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_500 | This variant affects the gene ALPL (alkaline phosphatase, biomineralization associated) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Adult hypophosphatasia | TGATGGGGAGAGGCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGTGTGCCTGCAT... | TGATGGGGAGAGGCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGTGTGCCTGCAT... |
Task1_train_501 | This mutation is located in gene ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hypophosphatasia | CACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATT... | CACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATT... |
Task1_train_502 | A variant was discovered in gene ALPL (alkaline phosphatase, biomineralization associated), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Hypophosphatasia | GCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCAC... | GCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCAC... |
Task1_train_503 | Assess the clinical impact of this variant on gene ALPL (alkaline phosphatase, biomineralization associated), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Osteogenesis imperfecta | GCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCAC... | GCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCAC... |
Task1_train_504 | A variant was discovered in gene ALPL (alkaline phosphatase, biomineralization associated), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Adult hypophosphatasia | GCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCAC... | GCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCAC... |
Task1_train_505 | Gene ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Childhood hypophosphatasia | GCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCAC... | GCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCAC... |
Task1_train_506 | A variant found in Chromosome 1 affects ALPL (alkaline phosphatase, biomineralization associated). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; ALPL-related disorder | GCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCAC... | GCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCAC... |
Task1_train_507 | This alteration in ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Childhood hypophosphatasia | GCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCAC... | GCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCAC... |
Task1_train_508 | This alteration in ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Adult hypophosphatasia | GCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCAC... | GCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCAC... |
Task1_train_509 | The gene ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Infantile hypophosphatasia | GCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCAC... | GCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCAC... |
Task1_train_510 | The gene ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Adult hypophosphatasia | TGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGG... | TGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGG... |
Task1_train_511 | This mutation occurs in ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hypophosphatasia | TGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGG... | TGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGG... |
Task1_train_512 | Located on Chromosome 1, this mutation impacts ALPL (alkaline phosphatase, biomineralization associated). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hypophosphatasia | CAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCC... | CAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCC... |
Task1_train_513 | A genomic change on Chromosome 1 affects ALPL (alkaline phosphatase, biomineralization associated). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hypophosphatasia | ACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGC... | ACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGC... |
Task1_train_514 | This variant affects gene ALPL (alkaline phosphatase, biomineralization associated) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Hypophosphatasia | GGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTG... | GGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTG... |
Task1_train_515 | A mutation on Chromosome 1 affecting ALPL (alkaline phosphatase, biomineralization associated) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Adult hypophosphatasia | GGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTG... | GGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTG... |
Task1_train_516 | This mutation is located in gene ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Adult hypophosphatasia | GGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTG... | GGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTG... |
Task1_train_517 | The gene ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Childhood hypophosphatasia | GGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTG... | GGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTG... |
Task1_train_518 | Mutation context: Chromosome 1, Gene ALPL (alkaline phosphatase, biomineralization associated). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Infantile hypophosphatasia | GGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTG... | GGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTG... |
Task1_train_519 | Here is a mutation in ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Inborn genetic diseases | GAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAG... | GAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAG... |
Task1_train_520 | A mutation in ALPL (alkaline phosphatase, biomineralization associated), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Childhood hypophosphatasia | GAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAG... | GAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAG... |
Task1_train_521 | This variant affects gene ALPL (alkaline phosphatase, biomineralization associated) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Adult hypophosphatasia | GAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAG... | GAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAG... |
Task1_train_522 | The gene ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Hypophosphatasia | GAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAG... | GAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAG... |
Task1_train_523 | A variant was discovered on Chromosome 1, affecting ALPL (alkaline phosphatase, biomineralization associated). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Adult hypophosphatasia | GAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAG... | GAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAG... |
Task1_train_524 | This sequence variant lies in ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Childhood hypophosphatasia | GAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAG... | GAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAG... |
Task1_train_525 | A genetic alteration is present in ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Infantile hypophosphatasia | GAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAG... | GAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAG... |
Task1_train_526 | Consider a variant on Chromosome 1 in gene ALPL (alkaline phosphatase, biomineralization associated). Determine its clinical classification and disease relevance. | Pathogenic; Adult hypophosphatasia | GTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGAT... | GTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGAT... |
Task1_train_527 | This variant impacts the gene ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; Adult hypophosphatasia | GTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGAT... | GTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGAT... |
Task1_train_528 | A genomic change on Chromosome 1 affects ALPL (alkaline phosphatase, biomineralization associated). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Childhood hypophosphatasia | GTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGAT... | GTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGAT... |
Task1_train_529 | Given this context: Chromosome 1, gene ALPL (alkaline phosphatase, biomineralization associated) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Infantile hypophosphatasia | GTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGAT... | GTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGAT... |
Task1_train_530 | A genetic alteration is present in ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | CTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCC... | CTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCC... |
Task1_train_531 | Consider a variant on Chromosome 1 in gene ALPL (alkaline phosphatase, biomineralization associated). Determine its clinical classification and disease relevance. | Pathogenic; Adult hypophosphatasia | GCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGG... | GCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGG... |
Task1_train_532 | A variant was discovered in gene ALPL (alkaline phosphatase, biomineralization associated), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Childhood hypophosphatasia | GCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGG... | GCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGG... |
Task1_train_533 | This mutation occurs in ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Infantile hypophosphatasia | GCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGG... | GCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGG... |
Task1_train_534 | The gene ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Hypophosphatasia | GCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGG... | GCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGG... |
Task1_train_535 | This mutation occurs in ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hypophosphatasia | GGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACG... | GGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACG... |
Task1_train_536 | This alteration occurs within gene ALPL (alkaline phosphatase, biomineralization associated) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Adult hypophosphatasia | GGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACG... | GGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACG... |
Task1_train_537 | Here is a mutation in ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Adult hypophosphatasia | TTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGAC... | TTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGAC... |
Task1_train_538 | Chromosome 1 houses a mutation in gene ALPL (alkaline phosphatase, biomineralization associated). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Adult hypophosphatasia | TTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGAC... | TTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGAC... |
Task1_train_539 | This variant lies on Chromosome 1 and affects the gene ALPL (alkaline phosphatase, biomineralization associated). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Childhood hypophosphatasia | TTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGAC... | TTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGAC... |
Task1_train_540 | Assess the clinical impact of this variant on gene ALPL (alkaline phosphatase, biomineralization associated), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Infantile hypophosphatasia | TTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGAC... | TTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGAC... |
Task1_train_541 | A mutation on Chromosome 1 affecting ALPL (alkaline phosphatase, biomineralization associated) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hypophosphatasia | TTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGAC... | TTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGAC... |
Task1_train_542 | Chromosome 1 houses a mutation in gene ALPL (alkaline phosphatase, biomineralization associated). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Hypophosphatasia | ATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGG... | ATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGG... |
Task1_train_543 | A variant found in Chromosome 1 affects ALPL (alkaline phosphatase, biomineralization associated). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Infantile hypophosphatasia | ATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCA... | ATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCA... |
Task1_train_544 | A variant has been detected on Chromosome 1 in ALPL (alkaline phosphatase, biomineralization associated). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Adult hypophosphatasia | AGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTC... | AGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTC... |
Task1_train_545 | This is a variant in ALPL (alkaline phosphatase, biomineralization associated), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Adult hypophosphatasia | AGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTC... | AGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTC... |
Task1_train_546 | Here’s a variant in ALPL (alkaline phosphatase, biomineralization associated) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Childhood hypophosphatasia | AGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTC... | AGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTC... |
Task1_train_547 | This sequence change occurs on Chromosome 1, altering ALPL (alkaline phosphatase, biomineralization associated). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Infantile hypophosphatasia | AGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTC... | AGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTC... |
Task1_train_548 | An alteration has been detected in ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hypophosphatasia | CCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAG... | CCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAG... |
Task1_train_549 | The gene ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Adult hypophosphatasia | CCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAG... | CCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAG... |
Task1_train_550 | Here is a variant affecting ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | CTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGG... | CTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGG... |
Task1_train_551 | Assess the clinical impact of this variant on gene ALPL (alkaline phosphatase, biomineralization associated), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Adult hypophosphatasia | GAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGAC... | GAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGAC... |
Task1_train_552 | Consider this mutation in ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Childhood hypophosphatasia | GAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGAC... | GAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGAC... |
Task1_train_553 | A genetic alteration is present in ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Infantile hypophosphatasia | GAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGAC... | GAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGAC... |
Task1_train_554 | The gene ALPL (alkaline phosphatase, biomineralization associated), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Adult hypophosphatasia | GAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGAC... | GAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGAC... |
Task1_train_555 | A variant has been detected on Chromosome 1 in ALPL (alkaline phosphatase, biomineralization associated). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hypophosphatasia | GAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGAC... | GAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGAC... |
Task1_train_556 | This is a variant in ALPL (alkaline phosphatase, biomineralization associated), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | GGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAG... | GGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAG... |
Task1_train_557 | The gene ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Childhood hypophosphatasia | AGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGG... | AGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGG... |
Task1_train_558 | This gene mutation involves USP48 (ubiquitin specific peptidase 48) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Hearing loss, autosomal dominant 85 | AATTTAGTTAAAATATATTCTTATAGACTTGGCAATTTTTGTTTACATTTTGCTTAAAGTTATACTAGTAATGGAAAATTAAGATATTAAAAAGACAAACCACAAGTACAATTATGCTTAAGTATTTATTTTCTAAAGTAAGGACTAAATTGTCTCTCTTCCTTAAGTAGGAATTAGGCTTGGGGAATTCATGTCTTTAAAATGACAAAGATAACTTAATACAAATGGCACATCAGCCTTTAAAAAGGCTTAATTTGGTTTCATTTTGAGACATCAGGTAAACCTGAATAAACATATACAGAAAAGGGATAAGCTGGATT... | AATTTAGTTAAAATATATTCTTATAGACTTGGCAATTTTTGTTTACATTTTGCTTAAAGTTATACTAGTAATGGAAAATTAAGATATTAAAAAGACAAACCACAAGTACAATTATGCTTAAGTATTTATTTTCTAAAGTAAGGACTAAATTGTCTCTCTTCCTTAAGTAGGAATTAGGCTTGGGGAATTCATGTCTTTAAAATGACAAAGATAACTTAATACAAATGGCACATCAGCCTTTAAAAAGGCTTAATTTGGTTTCATTTTGAGACATCAGGTAAACCTGAATAAACATATACAGAAAAGGGATAAGCTGGATT... |
Task1_train_559 | Here is a variant affecting HSPG2 (heparan sulfate proteoglycan 2) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Schwartz-Jampel syndrome type 1 | GGACGTGGGTGGATCACCTGAGATCAGGAGTTAGAGACCAGCCTGCCAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAATTCGCCAGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGTGACAAAAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGG... | GGACGTGGGTGGATCACCTGAGATCAGGAGTTAGAGACCAGCCTGCCAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAATTCGCCAGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGTGACAAAAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGG... |
Task1_train_560 | Gene CDC42 (cell division cycle 42), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Inborn genetic diseases | TCTCCCAGTTACTGGCTGAATAGCCTTGGCTTAGTTACTTGCTGAGCCTCACTCTTCTTATCTGTAAAATAGGGATAATACAGCACATACTTCATAGGCTTTTTGGGAGGATGAAATGTGTGAATATGTGTAATATGTTTTGAACAGTACATAGCACTTAGTAAATGCTGTATGAGTGTTTGCTGCTTACTATTATTATTTGAGTGCTTTTAGATTTAACCAGTAATTGATTGATCTTAGGGATCAGGGTTGTTAATCTTTAATGCTGTATTAGTTAGTATGGGTGCTTCTTAGTGCATAAAAGGGAAAGGAGAAGGAAA... | TCTCCCAGTTACTGGCTGAATAGCCTTGGCTTAGTTACTTGCTGAGCCTCACTCTTCTTATCTGTAAAATAGGGATAATACAGCACATACTTCATAGGCTTTTTGGGAGGATGAAATGTGTGAATATGTGTAATATGTTTTGAACAGTACATAGCACTTAGTAAATGCTGTATGAGTGTTTGCTGCTTACTATTATTATTTGAGTGCTTTTAGATTTAACCAGTAATTGATTGATCTTAGGGATCAGGGTTGTTAATCTTTAATGCTGTATTAGTTAGTATGGGTGCTTCTTAGTGCATAAAAGGGAAAGGAGAAGGAAA... |
Task1_train_561 | Chromosome 1 houses a mutation in gene CDC42 (cell division cycle 42). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | TCTCCCAGTTACTGGCTGAATAGCCTTGGCTTAGTTACTTGCTGAGCCTCACTCTTCTTATCTGTAAAATAGGGATAATACAGCACATACTTCATAGGCTTTTTGGGAGGATGAAATGTGTGAATATGTGTAATATGTTTTGAACAGTACATAGCACTTAGTAAATGCTGTATGAGTGTTTGCTGCTTACTATTATTATTTGAGTGCTTTTAGATTTAACCAGTAATTGATTGATCTTAGGGATCAGGGTTGTTAATCTTTAATGCTGTATTAGTTAGTATGGGTGCTTCTTAGTGCATAAAAGGGAAAGGAGAAGGAAA... | TCTCCCAGTTACTGGCTGAATAGCCTTGGCTTAGTTACTTGCTGAGCCTCACTCTTCTTATCTGTAAAATAGGGATAATACAGCACATACTTCATAGGCTTTTTGGGAGGATGAAATGTGTGAATATGTGTAATATGTTTTGAACAGTACATAGCACTTAGTAAATGCTGTATGAGTGTTTGCTGCTTACTATTATTATTTGAGTGCTTTTAGATTTAACCAGTAATTGATTGATCTTAGGGATCAGGGTTGTTAATCTTTAATGCTGTATTAGTTAGTATGGGTGCTTCTTAGTGCATAAAAGGGAAAGGAGAAGGAAA... |
Task1_train_562 | An alteration has been detected in CDC42 (cell division cycle 42) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Neurodevelopmental disorder | TCTCCCAGTTACTGGCTGAATAGCCTTGGCTTAGTTACTTGCTGAGCCTCACTCTTCTTATCTGTAAAATAGGGATAATACAGCACATACTTCATAGGCTTTTTGGGAGGATGAAATGTGTGAATATGTGTAATATGTTTTGAACAGTACATAGCACTTAGTAAATGCTGTATGAGTGTTTGCTGCTTACTATTATTATTTGAGTGCTTTTAGATTTAACCAGTAATTGATTGATCTTAGGGATCAGGGTTGTTAATCTTTAATGCTGTATTAGTTAGTATGGGTGCTTCTTAGTGCATAAAAGGGAAAGGAGAAGGAAA... | TCTCCCAGTTACTGGCTGAATAGCCTTGGCTTAGTTACTTGCTGAGCCTCACTCTTCTTATCTGTAAAATAGGGATAATACAGCACATACTTCATAGGCTTTTTGGGAGGATGAAATGTGTGAATATGTGTAATATGTTTTGAACAGTACATAGCACTTAGTAAATGCTGTATGAGTGTTTGCTGCTTACTATTATTATTTGAGTGCTTTTAGATTTAACCAGTAATTGATTGATCTTAGGGATCAGGGTTGTTAATCTTTAATGCTGTATTAGTTAGTATGGGTGCTTCTTAGTGCATAAAAGGGAAAGGAGAAGGAAA... |
Task1_train_563 | This variant impacts the gene CDC42 (cell division cycle 42) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | TGATTTGTATTTCCTTAATGATTAGTGATGTTGAGCATCTTATGGCCATTTATATATCTTTGGAGAAAGGTCTGTTTAATCAAGTTCTTTGCCCATTTTTGAATTGGGATTTTTTTTTTGGGGTAAGTTTTAGGAGTTCTTTGTAGATTCCGGGTATTAATCTCTTATCACATACACGATTTGCATATATTTTTTCCTATTTTGTGGGTTGCGTTTTTATTCTGTTGATACTATTTTCTGATGTATAAAATTTTCACAGCTTCATGAAGTTTGTCTATTTTTTGGTGGTTTGGTGTGATATCCAAACAAATTATTGCCAA... | TGATTTGTATTTCCTTAATGATTAGTGATGTTGAGCATCTTATGGCCATTTATATATCTTTGGAGAAAGGTCTGTTTAATCAAGTTCTTTGCCCATTTTTGAATTGGGATTTTTTTTTTGGGGTAAGTTTTAGGAGTTCTTTGTAGATTCCGGGTATTAATCTCTTATCACATACACGATTTGCATATATTTTTTCCTATTTTGTGGGTTGCGTTTTTATTCTGTTGATACTATTTTCTGATGTATAAAATTTTCACAGCTTCATGAAGTTTGTCTATTTTTTGGTGGTTTGGTGTGATATCCAAACAAATTATTGCCAA... |
Task1_train_564 | This sequence variant lies in CDC42 (cell division cycle 42) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Inborn genetic diseases | TGATTTGTATTTCCTTAATGATTAGTGATGTTGAGCATCTTATGGCCATTTATATATCTTTGGAGAAAGGTCTGTTTAATCAAGTTCTTTGCCCATTTTTGAATTGGGATTTTTTTTTTGGGGTAAGTTTTAGGAGTTCTTTGTAGATTCCGGGTATTAATCTCTTATCACATACACGATTTGCATATATTTTTTCCTATTTTGTGGGTTGCGTTTTTATTCTGTTGATACTATTTTCTGATGTATAAAATTTTCACAGCTTCATGAAGTTTGTCTATTTTTTGGTGGTTTGGTGTGATATCCAAACAAATTATTGCCAA... | TGATTTGTATTTCCTTAATGATTAGTGATGTTGAGCATCTTATGGCCATTTATATATCTTTGGAGAAAGGTCTGTTTAATCAAGTTCTTTGCCCATTTTTGAATTGGGATTTTTTTTTTGGGGTAAGTTTTAGGAGTTCTTTGTAGATTCCGGGTATTAATCTCTTATCACATACACGATTTGCATATATTTTTTCCTATTTTGTGGGTTGCGTTTTTATTCTGTTGATACTATTTTCTGATGTATAAAATTTTCACAGCTTCATGAAGTTTGTCTATTTTTTGGTGGTTTGGTGTGATATCCAAACAAATTATTGCCAA... |
Task1_train_565 | Here’s a variant in CDC42 (cell division cycle 42) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | ATATATCTTTGGAGAAAGGTCTGTTTAATCAAGTTCTTTGCCCATTTTTGAATTGGGATTTTTTTTTTGGGGTAAGTTTTAGGAGTTCTTTGTAGATTCCGGGTATTAATCTCTTATCACATACACGATTTGCATATATTTTTTCCTATTTTGTGGGTTGCGTTTTTATTCTGTTGATACTATTTTCTGATGTATAAAATTTTCACAGCTTCATGAAGTTTGTCTATTTTTTGGTGGTTTGGTGTGATATCCAAACAAATTATTGCCAAGTCCACCTGAATCTTTTGCCCTATGTTTTCTGGGAGTTTTAAAGTTTTAGG... | ATATATCTTTGGAGAAAGGTCTGTTTAATCAAGTTCTTTGCCCATTTTTGAATTGGGATTTTTTTTTTGGGGTAAGTTTTAGGAGTTCTTTGTAGATTCCGGGTATTAATCTCTTATCACATACACGATTTGCATATATTTTTTCCTATTTTGTGGGTTGCGTTTTTATTCTGTTGATACTATTTTCTGATGTATAAAATTTTCACAGCTTCATGAAGTTTGTCTATTTTTTGGTGGTTTGGTGTGATATCCAAACAAATTATTGCCAAGTCCACCTGAATCTTTTGCCCTATGTTTTCTGGGAGTTTTAAAGTTTTAGG... |
Task1_train_566 | With a mutation on Chromosome 1 in gene CDC42 (cell division cycle 42), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | AGTTAATTTTAGTATATAGTATTAGGTAAGGTTTCATCTTTGTCTTTTGCTTGTGAATATGTCATTTTCTCAGCACCATTTATTGAAGAGTCCTTTTACCACTGAATGGTCTTGGCACCCTTATCAAAAATTATTTGAGCTAGGCTAGGCACGGTGGCTCACACCTGTAATCTTAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGAAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCTGTGTCTACTAAAAATACAAAAATTAGCCTGGTGCGGTGGTGTGTGCCTATAGTCCCAGCTACTCAGA... | AGTTAATTTTAGTATATAGTATTAGGTAAGGTTTCATCTTTGTCTTTTGCTTGTGAATATGTCATTTTCTCAGCACCATTTATTGAAGAGTCCTTTTACCACTGAATGGTCTTGGCACCCTTATCAAAAATTATTTGAGCTAGGCTAGGCACGGTGGCTCACACCTGTAATCTTAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGAAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCTGTGTCTACTAAAAATACAAAAATTAGCCTGGTGCGGTGGTGTGTGCCTATAGTCCCAGCTACTCAGA... |
Task1_train_567 | This variant affects the gene CDC42 (cell division cycle 42) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Noonan-like syndrome | CTTGCTCTAATAACATTGCTGAATAACTGAAGTGTATGCTGTTTTTAGAGTCTGTTCTTTAAAGTCCTTCTAGTTGGTACTGTTGCACAATTAACACTTTTTAAATGTCTGAACCTTTCCGTTCTGGGAAACCAGTTTACTCTGAAATCTTGATTAATCACATTCAGATATGTCATTGAACCTAGAAACACATAGCATGCCTGTTAGTCTGCTATTTGTGTCCTTCAGTTATTCAGGGGCTGAATTCACATAAGCCTGAAATTGTAATAGATTTATTTCCAAAATGTGTTAGAAGTCAACATATTGCATTTTAATAAAAA... | CTTGCTCTAATAACATTGCTGAATAACTGAAGTGTATGCTGTTTTTAGAGTCTGTTCTTTAAAGTCCTTCTAGTTGGTACTGTTGCACAATTAACACTTTTTAAATGTCTGAACCTTTCCGTTCTGGGAAACCAGTTTACTCTGAAATCTTGATTAATCACATTCAGATATGTCATTGAACCTAGAAACACATAGCATGCCTGTTAGTCTGCTATTTGTGTCCTTCAGTTATTCAGGGGCTGAATTCACATAAGCCTGAAATTGTAATAGATTTATTTCCAAAATGTGTTAGAAGTCAACATATTGCATTTTAATAAAAA... |
Task1_train_568 | A mutation in CDC42 (cell division cycle 42), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | TAGAGTCTGTTCTTTAAAGTCCTTCTAGTTGGTACTGTTGCACAATTAACACTTTTTAAATGTCTGAACCTTTCCGTTCTGGGAAACCAGTTTACTCTGAAATCTTGATTAATCACATTCAGATATGTCATTGAACCTAGAAACACATAGCATGCCTGTTAGTCTGCTATTTGTGTCCTTCAGTTATTCAGGGGCTGAATTCACATAAGCCTGAAATTGTAATAGATTTATTTCCAAAATGTGTTAGAAGTCAACATATTGCATTTTAATAAAAATTGCTTTCCTGCTCAGTTAACCTTGCTTGAGGTGAAGTTTTTGGT... | TAGAGTCTGTTCTTTAAAGTCCTTCTAGTTGGTACTGTTGCACAATTAACACTTTTTAAATGTCTGAACCTTTCCGTTCTGGGAAACCAGTTTACTCTGAAATCTTGATTAATCACATTCAGATATGTCATTGAACCTAGAAACACATAGCATGCCTGTTAGTCTGCTATTTGTGTCCTTCAGTTATTCAGGGGCTGAATTCACATAAGCCTGAAATTGTAATAGATTTATTTCCAAAATGTGTTAGAAGTCAACATATTGCATTTTAATAAAAATTGCTTTCCTGCTCAGTTAACCTTGCTTGAGGTGAAGTTTTTGGT... |
Task1_train_569 | A variant was discovered on Chromosome 1, affecting CDC42 (cell division cycle 42). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | TGTTCTTTAAAGTCCTTCTAGTTGGTACTGTTGCACAATTAACACTTTTTAAATGTCTGAACCTTTCCGTTCTGGGAAACCAGTTTACTCTGAAATCTTGATTAATCACATTCAGATATGTCATTGAACCTAGAAACACATAGCATGCCTGTTAGTCTGCTATTTGTGTCCTTCAGTTATTCAGGGGCTGAATTCACATAAGCCTGAAATTGTAATAGATTTATTTCCAAAATGTGTTAGAAGTCAACATATTGCATTTTAATAAAAATTGCTTTCCTGCTCAGTTAACCTTGCTTGAGGTGAAGTTTTTGGTCAGTTAT... | TGTTCTTTAAAGTCCTTCTAGTTGGTACTGTTGCACAATTAACACTTTTTAAATGTCTGAACCTTTCCGTTCTGGGAAACCAGTTTACTCTGAAATCTTGATTAATCACATTCAGATATGTCATTGAACCTAGAAACACATAGCATGCCTGTTAGTCTGCTATTTGTGTCCTTCAGTTATTCAGGGGCTGAATTCACATAAGCCTGAAATTGTAATAGATTTATTTCCAAAATGTGTTAGAAGTCAACATATTGCATTTTAATAAAAATTGCTTTCCTGCTCAGTTAACCTTGCTTGAGGTGAAGTTTTTGGTCAGTTAT... |
Task1_train_570 | This is a variant in WNT4 (Wnt family member 4), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Mullerian aplasia and hyperandrogenism | TGGGTCAAGGGCAAGGTCTTGATCCATGCATGTCCTTCTCACAAGCCTGGGCGGGGCTCGTGATGGTTTGGCGGTTGTACAGGGTCAGGCCCAGGTTGCTGGTGCTGTCTCTTGGGAAATCTTGCAGTACCTATGGTACCTGGGACCCCAGGGACTCGGATGTGCTGGGGAGGGGTGCACCACACTGCTGAGACCTCACTGTCAGCCTTCCAGCTGTTCACATCTTTCCTCAGAGCCTGTTCTGCCCTTAGGAACCATGTGGGCTCCAGCTCAGCCTGTGGTCTCTGGCTCCTGCTGCTTCCCTGCCCCTTTTCGTCCAG... | TGGGTCAAGGGCAAGGTCTTGATCCATGCATGTCCTTCTCACAAGCCTGGGCGGGGCTCGTGATGGTTTGGCGGTTGTACAGGGTCAGGCCCAGGTTGCTGGTGCTGTCTCTTGGGAAATCTTGCAGTACCTATGGTACCTGGGACCCCAGGGACTCGGATGTGCTGGGGAGGGGTGCACCACACTGCTGAGACCTCACTGTCAGCCTTCCAGCTGTTCACATCTTTCCTCAGAGCCTGTTCTGCCCTTAGGAACCATGTGGGCTCCAGCTCAGCCTGTGGTCTCTGGCTCCTGCTGCTTCCCTGCCCCTTTTCGTCCAG... |
Task1_train_571 | Consider a variant on Chromosome 1 in gene WNT4 (Wnt family member 4). Determine its clinical classification and disease relevance. | Pathogenic; SERKAL syndrome | GGTGCCCTTGACCTGGTATCTGCTTGTTCCCTTTCTCAGGGCATTTGAGAGACATGGCTTCTAGGCTCAAGCTGCCAGGAGTCCATGTGTATGTGTGCTGGAGAGTTAAGAGTTCTTTTTTCCAGAGGGTGTGACTTCCATCAAGTCGGTACCTATTTTCCCTGCCATAAGGCCCCCTCTTCCCCGATGACACGGTCAGTAGCCATGTGGTGGTAATACTCCTTGTTACTCCACCTTAGGTCTGCAAGTAGAAAAACGGACACAGATAACAACTGAGTGGTCAGTGGCAGCCACATGCGGGCAGCCAGCGGCACGAGCAA... | GGTGCCCTTGACCTGGTATCTGCTTGTTCCCTTTCTCAGGGCATTTGAGAGACATGGCTTCTAGGCTCAAGCTGCCAGGAGTCCATGTGTATGTGTGCTGGAGAGTTAAGAGTTCTTTTTTCCAGAGGGTGTGACTTCCATCAAGTCGGTACCTATTTTCCCTGCCATAAGGCCCCCTCTTCCCCGATGACACGGTCAGTAGCCATGTGGTGGTAATACTCCTTGTTACTCCACCTTAGGTCTGCAAGTAGAAAAACGGACACAGATAACAACTGAGTGGTCAGTGGCAGCCACATGCGGGCAGCCAGCGGCACGAGCAA... |
Task1_train_572 | Mutation context: Chromosome 1, Gene WNT4 (Wnt family member 4). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Mullerian aplasia and hyperandrogenism | GTGTCTATATATAGAAATAGAGAATAACAAAGCAAATGGGTGAAAATGTAAGCTGTTGGTGAATCAAGTGAAAAGGATATAGGAATTACTTGTCCTACTTTTGCAACTCTTCTGTAAGTTTGAAATTATGATTTTAAAAAAATCCCACAGCAAGAACAAAGAGCTTTGGAGCCCAGAGGGAAGAGCTGAGAAGGTGTCGTGGAGGAGGGAACTGCTGAGCCCTCAAGAAGGGGGCTTGGGTGTTTGCGGTGGAGGACATTGCATATGCAAAGGGAGGAGTGAGAGAGGGTGACAGCCTGCCATATGAAACCCTGCCAATC... | GTGTCTATATATAGAAATAGAGAATAACAAAGCAAATGGGTGAAAATGTAAGCTGTTGGTGAATCAAGTGAAAAGGATATAGGAATTACTTGTCCTACTTTTGCAACTCTTCTGTAAGTTTGAAATTATGATTTTAAAAAAATCCCACAGCAAGAACAAAGAGCTTTGGAGCCCAGAGGGAAGAGCTGAGAAGGTGTCGTGGAGGAGGGAACTGCTGAGCCCTCAAGAAGGGGGCTTGGGTGTTTGCGGTGGAGGACATTGCATATGCAAAGGGAGGAGTGAGAGAGGGTGACAGCCTGCCATATGAAACCCTGCCAATC... |
Task1_train_573 | The following genetic variant occurs in WNT4 (Wnt family member 4) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Mullerian aplasia and hyperandrogenism | GCAGAGAACAGGTTTGCCAACCTCTCTTCTCCTAGGCTGCCCCTCCTCACCCCACCCCCAACAGCACAGGCAGGAGAACTGAGTTGTTGGAATTCCCCACAGTTTGCATGATCCAAAGCCGAGGCTGCCTTCCTGGCTGGGATTCTGGGGGTGGACATGGGTGAAGGTGAGTGGTGATGCCACCGGGCCATGCTGGCTCCACTTTGGGACAGCTTCAGGGAAGGGGGTATAGGGTCACTGCCTGGGAGTCAGAACACCTGGGTTCAGTTCTCAGCTCTGAGTTTGGGCAAGTAGCTTCCACTCCCTAGGCCTCAGTTTCC... | GCAGAGAACAGGTTTGCCAACCTCTCTTCTCCTAGGCTGCCCCTCCTCACCCCACCCCCAACAGCACAGGCAGGAGAACTGAGTTGTTGGAATTCCCCACAGTTTGCATGATCCAAAGCCGAGGCTGCCTTCCTGGCTGGGATTCTGGGGGTGGACATGGGTGAAGGTGAGTGGTGATGCCACCGGGCCATGCTGGCTCCACTTTGGGACAGCTTCAGGGAAGGGGGTATAGGGTCACTGCCTGGGAGTCAGAACACCTGGGTTCAGTTCTCAGCTCTGAGTTTGGGCAAGTAGCTTCCACTCCCTAGGCCTCAGTTTCC... |
Task1_train_574 | This alteration occurs within gene C1QC (complement C1q C chain) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; C1Q deficiency | ATACCCCACCATCCACCCACTACCCCGATGCAAAATCTCTGGCCCCTCTGGGAGGGGAATGAACTGGAGCTGCCCGGAGCGGGGCCAAGTGGGCGGGGCACGGGAGGGTTGAGCGTGGGCCGAGGCTGCCACCTGCTGGACAAGCCGAACCCAGGCGCAGAGGAGGTGAAGAGGGAGGAGAGGAGCCCAGAGCCGTTAGGCTGGGTGGCCCCCAGCCCCATAATGCAGTATCCATCATTTCTTCTCGGCCCAGGCTTCCACCCACCAGGGACTCCTAGGGCCAAGTGGGTTCATGCCCCTTAACTCACCCCACACTCTCT... | ATACCCCACCATCCACCCACTACCCCGATGCAAAATCTCTGGCCCCTCTGGGAGGGGAATGAACTGGAGCTGCCCGGAGCGGGGCCAAGTGGGCGGGGCACGGGAGGGTTGAGCGTGGGCCGAGGCTGCCACCTGCTGGACAAGCCGAACCCAGGCGCAGAGGAGGTGAAGAGGGAGGAGAGGAGCCCAGAGCCGTTAGGCTGGGTGGCCCCCAGCCCCATAATGCAGTATCCATCATTTCTTCTCGGCCCAGGCTTCCACCCACCAGGGACTCCTAGGGCCAAGTGGGTTCATGCCCCTTAACTCACCCCACACTCTCT... |
Task1_train_575 | The variant affects gene C1QC (complement C1q C chain), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | CCAACTCTCAAGTCCACATTCTCCACCACTGCCCTCAGCTGCCTCTCAAGTCCCCTCTGTATTGCTGTTTCCTGGCCCCCTCTCAATTGGTGGTTTGAAGACATCACGAAGGATGAGACGCTGCTCTGCTCAGCATCACTGGCAGCCATCACGAGGACCAGACACTCCAGAGCACGCTTCCTATGGTGTGCCTGGCACAGTGCCTGTCCCACTCCACCCTTTCAGGGACTCCCTCTTCTATTATGCCCGTATCTCAACTGAGCAAATACAGGCTCAGGGAGGGAGGTCACCCACCCAGGGTCACAGATGTGAAGGCCAGG... | CCAACTCTCAAGTCCACATTCTCCACCACTGCCCTCAGCTGCCTCTCAAGTCCCCTCTGTATTGCTGTTTCCTGGCCCCCTCTCAATTGGTGGTTTGAAGACATCACGAAGGATGAGACGCTGCTCTGCTCAGCATCACTGGCAGCCATCACGAGGACCAGACACTCCAGAGCACGCTTCCTATGGTGTGCCTGGCACAGTGCCTGTCCCACTCCACCCTTTCAGGGACTCCCTCTTCTATTATGCCCGTATCTCAACTGAGCAAATACAGGCTCAGGGAGGGAGGTCACCCACCCAGGGTCACAGATGTGAAGGCCAGG... |
Task1_train_576 | Given a variant located on Chromosome 1 and affecting C1QB (complement C1q B chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; C1Q deficiency | ATGGATGGATGGATGGATGGATGCAGATGGAGGAATAGAGAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGATAGGATCACCACGGTGGTAACCTCTCACATTGTCTTCTCCACAGGAGGCGTCTGACACAGTATGATGATGAAGATCCCATGGGGCAGCATCCCAGTACTGATGTTGCTCCTGCTCCTGGGCCTAATCGATATCTCCCAGGCCCAGCTCAGCTGCACCGGGCCCCCAGCCATCCCTGGCATCCCGGGTATCCCTGGGACACCTGGCCCCGATGGCCAACCTGGGACCCCAG... | ATGGATGGATGGATGGATGGATGCAGATGGAGGAATAGAGAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGATAGGATCACCACGGTGGTAACCTCTCACATTGTCTTCTCCACAGGAGGCGTCTGACACAGTATGATGATGAAGATCCCATGGGGCAGCATCCCAGTACTGATGTTGCTCCTGCTCCTGGGCCTAATCGATATCTCCCAGGCCCAGCTCAGCTGCACCGGGCCCCCAGCCATCCCTGGCATCCCGGGTATCCCTGGGACACCTGGCCCCGATGGCCAACCTGGGACCCCAG... |
Task1_train_577 | This mutation occurs in EPHB2 (EPH receptor B2) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Bleeding disorder, platelet-type, 22 | AAGATCTACATCGATCCTTTCACCTACGAGGACCCCAACGAGGCAGTGCGGGAGTTTGCCAAGGAAATTGACATCTCCTGTGTCAAAATTGAGCAGGTGATCGGAGCAGGTAGGTGGCTGGTACTCTCACATGTACTATGACCTTAGCCATGGCTGGTGAGACCACCCCAATGTATACCCTTGGGGCAGAAGGTAGGATGTGGGACAGGCGCCTCAAAGGACCCCCCAAGGCCTGAAGGTTCAGAATGACCATGAAAGAAGGGCCCTCAAAGGTCATCCAGTAAAACCACCTCACTGACAAAAGAGGAAACTGAGGCACA... | AAGATCTACATCGATCCTTTCACCTACGAGGACCCCAACGAGGCAGTGCGGGAGTTTGCCAAGGAAATTGACATCTCCTGTGTCAAAATTGAGCAGGTGATCGGAGCAGGTAGGTGGCTGGTACTCTCACATGTACTATGACCTTAGCCATGGCTGGTGAGACCACCCCAATGTATACCCTTGGGGCAGAAGGTAGGATGTGGGACAGGCGCCTCAAAGGACCCCCCAAGGCCTGAAGGTTCAGAATGACCATGAAAGAAGGGCCCTCAAAGGTCATCCAGTAAAACCACCTCACTGACAAAAGAGGAAACTGAGGCACA... |
Task1_train_578 | A variant was discovered on Chromosome 1, affecting KDM1A (lysine demethylase 1A). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | CATCCAGTTGACACTGGAAGAGCTTTAATCTGTACCATTTGCACACTTGTGTTTGACACATTCTGCCCTATTGTAGAGGCATATGTGATCTAGTAGTCCCTCTTGGCTGCTATAGCATCCTCTTGCTAGGCATTTTAGAAGCAACACATAGAAATATCACTTTTATACTCCAGGAAAAGCAGTCAGGCGCATTGCATCTGTGATCAGTTAAGGTCTCATAACTACCTAGATTTCACATTGAAATGTAATTGTTTCTCCTTTTTGAAAGAAAAACCAAATTTAGATTTCCAGAACCATCTTTTGTAGCATCATTGCAGGAT... | CATCCAGTTGACACTGGAAGAGCTTTAATCTGTACCATTTGCACACTTGTGTTTGACACATTCTGCCCTATTGTAGAGGCATATGTGATCTAGTAGTCCCTCTTGGCTGCTATAGCATCCTCTTGCTAGGCATTTTAGAAGCAACACATAGAAATATCACTTTTATACTCCAGGAAAAGCAGTCAGGCGCATTGCATCTGTGATCAGTTAAGGTCTCATAACTACCTAGATTTCACATTGAAATGTAATTGTTTCTCCTTTTTGAAAGAAAAACCAAATTTAGATTTCCAGAACCATCTTTTGTAGCATCATTGCAGGAT... |
Task1_train_579 | Here is a mutation in KDM1A (lysine demethylase 1A) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | GCAGGGCTATACCATCTTTTCTTAAATTTCAGTGTGATTTACTCTTCAAGTGAGAAATCACAAGGCTTCTTGGACCAATCTCTAAATCTGAGACTTTGGCCAGAATTAAGACTGTATAGGCTGGGTACGGTGGCTCACGCCTTTTTAAACCCAGCACTTTGGGAGGCCAGAGCAGGAGGATCAATTGAGTCAGGAGTTCAAGACCAGCCTGGCCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATTGCCTGAACCCAGGAGGCA... | GCAGGGCTATACCATCTTTTCTTAAATTTCAGTGTGATTTACTCTTCAAGTGAGAAATCACAAGGCTTCTTGGACCAATCTCTAAATCTGAGACTTTGGCCAGAATTAAGACTGTATAGGCTGGGTACGGTGGCTCACGCCTTTTTAAACCCAGCACTTTGGGAGGCCAGAGCAGGAGGATCAATTGAGTCAGGAGTTCAAGACCAGCCTGGCCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATTGCCTGAACCCAGGAGGCA... |
Task1_train_580 | This variant affects gene KDM1A (lysine demethylase 1A) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | ATTACTCCTCACTGCCCAGTGGTGAATGGTCTTTCACACCCCAGAGCCTCTAACTTCACAGAGGGGGAACTTGGCTCCCTGAGCACATTGCTTTCTGAGAGCAGCAGCGTGTCTTTTCCCTTCCCCATCCAGGCTGTCAAGTCCTGTCAGTGCTAGCCTTACAATCTCTTGCAAACCTATTTACTTTTTTCTATTGCCTACCTCCCAGTCCAAGCCATTCTTACCTGTTGCCTGGACGGTTACCAATAGCTACTACTGCTATTCCTGCTTCTTTTAGTGACTTTCTACTGCTGAAAGAAAATGTTCAAACTCCTTATCTT... | ATTACTCCTCACTGCCCAGTGGTGAATGGTCTTTCACACCCCAGAGCCTCTAACTTCACAGAGGGGGAACTTGGCTCCCTGAGCACATTGCTTTCTGAGAGCAGCAGCGTGTCTTTTCCCTTCCCCATCCAGGCTGTCAAGTCCTGTCAGTGCTAGCCTTACAATCTCTTGCAAACCTATTTACTTTTTTCTATTGCCTACCTCCCAGTCCAAGCCATTCTTACCTGTTGCCTGGACGGTTACCAATAGCTACTACTGCTATTCCTGCTTCTTTTAGTGACTTTCTACTGCTGAAAGAAAATGTTCAAACTCCTTATCTT... |
Task1_train_581 | A variant affecting Chromosome 1, within the gene HNRNPR (heterogeneous nuclear ribonucleoprotein R), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities | CTGGATCTGTCTTACCAAAGAAATACCCATGTTAACTCAAAACTATCATACAACAGACCATAATTCCTTTATCAGTTTCCAAAAAACTAAAATATCAATAAGGTCTGTTAAATGACTATACTGTGTAATGAGTGTACTTTGAAAAAGAAATGAAATATATTGACTTTCATCAGTAAATAGTAATCTTAAATTGAAATGAAAAGAAGCCATGAAACCCAATATGATCTAGCCAAGATTACACGGAATTAAGTGGCTTATGATTTTGAAATCTAATATTCCTATCACAAAGACACCAAACAGGAACAAAACACAGAATAATG... | CTGGATCTGTCTTACCAAAGAAATACCCATGTTAACTCAAAACTATCATACAACAGACCATAATTCCTTTATCAGTTTCCAAAAAACTAAAATATCAATAAGGTCTGTTAAATGACTATACTGTGTAATGAGTGTACTTTGAAAAAGAAATGAAATATATTGACTTTCATCAGTAAATAGTAATCTTAAATTGAAATGAAAAGAAGCCATGAAACCCAATATGATCTAGCCAAGATTACACGGAATTAAGTGGCTTATGATTTTGAAATCTAATATTCCTATCACAAAGACACCAAACAGGAACAAAACACAGAATAATG... |
Task1_train_582 | A variant on Chromosome 1 in gene GALE (UDP-galactose-4-epimerase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; UDPglucose-4-epimerase deficiency | GGGGGGTAGGGGGTAGGGGTGGCCGGTGAGTGAGCTGTGCCCTCATGACCCCTCTCTCTCCTCCCTCCAGGGCGGGGCCCTGTCCCTCTACACGGCCCTCACCTGCCCCCACCCTCTGGCTGGCATCGTGGCGTTGAGCTGCTGGCTGCCTCTGCACCGGGCCTTCCCCCAGGTGAATGTCCCCACTGACCCCCCCGCCCTTTGTGTCTGCATCCTCGTGGCTTGGGGACTGCTGCAGCACTAGCTTTGCCCTGAGTCCTGTCCGGCCTCCAGGCAGCTAATGGCAGTGCCAAGGACCTGGCCATACTCCAGTGCCATGG... | GGGGGGTAGGGGGTAGGGGTGGCCGGTGAGTGAGCTGTGCCCTCATGACCCCTCTCTCTCCTCCCTCCAGGGCGGGGCCCTGTCCCTCTACACGGCCCTCACCTGCCCCCACCCTCTGGCTGGCATCGTGGCGTTGAGCTGCTGGCTGCCTCTGCACCGGGCCTTCCCCCAGGTGAATGTCCCCACTGACCCCCCCGCCCTTTGTGTCTGCATCCTCGTGGCTTGGGGACTGCTGCAGCACTAGCTTTGCCCTGAGTCCTGTCCGGCCTCCAGGCAGCTAATGGCAGTGCCAAGGACCTGGCCATACTCCAGTGCCATGG... |
Task1_train_583 | This mutation occurs in GALE (UDP-galactose-4-epimerase) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Thrombocytopenia 13, syndromic | CTGTGACCTCAGGGTTTGGCCCATGGGGCCCCCCCAGGCCCCTGCCCCAACTGATTCTGCCCAGATAATCGTGTCTCCTGCCTCCACTCAGCTGCTTCTCAGTCATGAATGTGGCCATGGCCCCGGGGTCCCCTTGCTGCTGTGGGCTCCCTGTCCCTGGGCAGGAGTGCTGGTGAGGAGGTGGAGCCTTTTGAGGGGGGCCTTCCCTCAGCTGTTTCCCCACACTGGGGGGCTGGGCCCTGCCTCCCCGTTACCCTCCTTCCCTGCAGGCCTGGAGCCTGTAGGGCTGGACTGAGGTTCAGGTCTCCCCCCAGCTGTCT... | CTGTGACCTCAGGGTTTGGCCCATGGGGCCCCCCCAGGCCCCTGCCCCAACTGATTCTGCCCAGATAATCGTGTCTCCTGCCTCCACTCAGCTGCTTCTCAGTCATGAATGTGGCCATGGCCCCGGGGTCCCCTTGCTGCTGTGGGCTCCCTGTCCCTGGGCAGGAGTGCTGGTGAGGAGGTGGAGCCTTTTGAGGGGGGCCTTCCCTCAGCTGTTTCCCCACACTGGGGGGCTGGGCCCTGCCTCCCCGTTACCCTCCTTCCCTGCAGGCCTGGAGCCTGTAGGGCTGGACTGAGGTTCAGGTCTCCCCCCAGCTGTCT... |
Task1_train_584 | The gene GALE (UDP-galactose-4-epimerase) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; UDPglucose-4-epimerase deficiency | CTGTGACCTCAGGGTTTGGCCCATGGGGCCCCCCCAGGCCCCTGCCCCAACTGATTCTGCCCAGATAATCGTGTCTCCTGCCTCCACTCAGCTGCTTCTCAGTCATGAATGTGGCCATGGCCCCGGGGTCCCCTTGCTGCTGTGGGCTCCCTGTCCCTGGGCAGGAGTGCTGGTGAGGAGGTGGAGCCTTTTGAGGGGGGCCTTCCCTCAGCTGTTTCCCCACACTGGGGGGCTGGGCCCTGCCTCCCCGTTACCCTCCTTCCCTGCAGGCCTGGAGCCTGTAGGGCTGGACTGAGGTTCAGGTCTCCCCCCAGCTGTCT... | CTGTGACCTCAGGGTTTGGCCCATGGGGCCCCCCCAGGCCCCTGCCCCAACTGATTCTGCCCAGATAATCGTGTCTCCTGCCTCCACTCAGCTGCTTCTCAGTCATGAATGTGGCCATGGCCCCGGGGTCCCCTTGCTGCTGTGGGCTCCCTGTCCCTGGGCAGGAGTGCTGGTGAGGAGGTGGAGCCTTTTGAGGGGGGCCTTCCCTCAGCTGTTTCCCCACACTGGGGGGCTGGGCCCTGCCTCCCCGTTACCCTCCTTCCCTGCAGGCCTGGAGCCTGTAGGGCTGGACTGAGGTTCAGGTCTCCCCCCAGCTGTCT... |
Task1_train_585 | The gene GALE (UDP-galactose-4-epimerase) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; UDPglucose-4-epimerase deficiency | TCCCTGGCCCCTAACTGCAGGGGTCAGGCCAGCACTCACACATCCTGTCCAGCCCTAAGGCTGCTGTCCACCCCAGCTCCTCTTGGGCCAGGCTGGGGTTGGCGTAACAGGCTGCCACATCACCTTCCCGCCGTGCCACCACCTTGTACGGGATCTGCAAGACAGGAGGTAGTTGGAGCTTAGCTGAGCCGGCCCTGGCCCAGCTGCTGGCCAGGTCTTTAAGAAGCAGAAGTGCAGAGCAGCGGCTGGCCCGCAGGCACCGGGTGCTAGGCAGGCTGAGGAGACTGGGCAGTGCCAGGTACCCTCCAGAGAGGTGAGTG... | TCCCTGGCCCCTAACTGCAGGGGTCAGGCCAGCACTCACACATCCTGTCCAGCCCTAAGGCTGCTGTCCACCCCAGCTCCTCTTGGGCCAGGCTGGGGTTGGCGTAACAGGCTGCCACATCACCTTCCCGCCGTGCCACCACCTTGTACGGGATCTGCAAGACAGGAGGTAGTTGGAGCTTAGCTGAGCCGGCCCTGGCCCAGCTGCTGGCCAGGTCTTTAAGAAGCAGAAGTGCAGAGCAGCGGCTGGCCCGCAGGCACCGGGTGCTAGGCAGGCTGAGGAGACTGGGCAGTGCCAGGTACCCTCCAGAGAGGTGAGTG... |
Task1_train_586 | This is a variant in GALE (UDP-galactose-4-epimerase), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; UDPglucose-4-epimerase deficiency | ACATCCTGTCCAGCCCTAAGGCTGCTGTCCACCCCAGCTCCTCTTGGGCCAGGCTGGGGTTGGCGTAACAGGCTGCCACATCACCTTCCCGCCGTGCCACCACCTTGTACGGGATCTGCAAGACAGGAGGTAGTTGGAGCTTAGCTGAGCCGGCCCTGGCCCAGCTGCTGGCCAGGTCTTTAAGAAGCAGAAGTGCAGAGCAGCGGCTGGCCCGCAGGCACCGGGTGCTAGGCAGGCTGAGGAGACTGGGCAGTGCCAGGTACCCTCCAGAGAGGTGAGTGGGAAGGGCCAAAGCTGCTCTGTTGCTGAGAGCTGGGTGG... | ACATCCTGTCCAGCCCTAAGGCTGCTGTCCACCCCAGCTCCTCTTGGGCCAGGCTGGGGTTGGCGTAACAGGCTGCCACATCACCTTCCCGCCGTGCCACCACCTTGTACGGGATCTGCAAGACAGGAGGTAGTTGGAGCTTAGCTGAGCCGGCCCTGGCCCAGCTGCTGGCCAGGTCTTTAAGAAGCAGAAGTGCAGAGCAGCGGCTGGCCCGCAGGCACCGGGTGCTAGGCAGGCTGAGGAGACTGGGCAGTGCCAGGTACCCTCCAGAGAGGTGAGTGGGAAGGGCCAAAGCTGCTCTGTTGCTGAGAGCTGGGTGG... |
Task1_train_587 | This variant affects the gene HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Deficiency of hydroxymethylglutaryl-CoA lyase | CCCATCCATGAATCATCTGTGTGTGCCCCTATTTCCACATCATCCCCAGGGCTTCAGGTGGGCAAGGGGCTCAGAGTTTACAGGTAGCCTGAGCCACTTTGGAGCTAGTTTTTCTGTTCAGGGCTTGACAGATAAAGTTTCCAGCTTCCAGAAGCTTCTGGAGATTCACACCCTTTGAGAAACAAGTTAGAGGATGCGGTAAGTCATGGTATGCCCTCAACACCAGGGAAAACATCAGCATGGACAGACAACTGTGATACTGAAAAGTAAAGGTGAAGATAAACAGGCTTTTTCCTTGACAGCGGGGCACCAGCTGCCTG... | CCCATCCATGAATCATCTGTGTGTGCCCCTATTTCCACATCATCCCCAGGGCTTCAGGTGGGCAAGGGGCTCAGAGTTTACAGGTAGCCTGAGCCACTTTGGAGCTAGTTTTTCTGTTCAGGGCTTGACAGATAAAGTTTCCAGCTTCCAGAAGCTTCTGGAGATTCACACCCTTTGAGAAACAAGTTAGAGGATGCGGTAAGTCATGGTATGCCCTCAACACCAGGGAAAACATCAGCATGGACAGACAACTGTGATACTGAAAAGTAAAGGTGAAGATAAACAGGCTTTTTCCTTGACAGCGGGGCACCAGCTGCCTG... |
Task1_train_588 | A genomic change on Chromosome 1 affects HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Deficiency of hydroxymethylglutaryl-CoA lyase | GAGCCACTGTGCCCAGCCGAGGAGCCTCTCAAACGGAACATTTCAGATCATCTCCCTCCCCGCCCCTGCTCAAGACTCTCTGTTAGCTTCCCAGCTCAGTCTGAAAGAGTCAAAGTCCTACAAGGCCCCCGATCTGGCCTTCCTCTAACCCTGACATCTCTGCCCCCCTCTCCTCAGTCACACTGCTCCCGCCACATGCCTCCTCCTGATCCCTGAACACAGCAAGCACACTCCTCCCTCAGGGCTCTGCGCCTGCTTTCCTGGGTGGGGCTCCCTTCCCTCCCCCTCCCTGCTAGGGATCCGCAGGGCTCACTCCCTCG... | GAGCCACTGTGCCCAGCCGAGGAGCCTCTCAAACGGAACATTTCAGATCATCTCCCTCCCCGCCCCTGCTCAAGACTCTCTGTTAGCTTCCCAGCTCAGTCTGAAAGAGTCAAAGTCCTACAAGGCCCCCGATCTGGCCTTCCTCTAACCCTGACATCTCTGCCCCCCTCTCCTCAGTCACACTGCTCCCGCCACATGCCTCCTCCTGATCCCTGAACACAGCAAGCACACTCCTCCCTCAGGGCTCTGCGCCTGCTTTCCTGGGTGGGGCTCCCTTCCCTCCCCCTCCCTGCTAGGGATCCGCAGGGCTCACTCCCTCG... |
Task1_train_589 | Gene HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Deficiency of hydroxymethylglutaryl-CoA lyase | TTTTTTTTTTTTGAGACCGGGTCTCACTCTGTCATTCGGCTAGAGTGCAGTGGTGTGATCTCGGCTTACTGCAACCTTGGCCTCTCAGACTCAAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTTGGACCATATGTATAAAAATGTATATATTTTACATATATATATTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGTCTCCCAAGTAGCTGGGATCATAGGCACCTACCACCACGCCCCAC... | TTTTTTTTTTTTGAGACCGGGTCTCACTCTGTCATTCGGCTAGAGTGCAGTGGTGTGATCTCGGCTTACTGCAACCTTGGCCTCTCAGACTCAAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTTGGACCATATGTATAAAAATGTATATATTTTACATATATATATTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGTCTCCCAAGTAGCTGGGATCATAGGCACCTACCACCACGCCCCAC... |
Task1_train_590 | The gene HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Deficiency of hydroxymethylglutaryl-CoA lyase | TCTCGCTAGGTCCTCCCCTTGCCTGCCTTCTCCAGTTTCTCTCCCACTGCTCTAACTTAATCTTTCCACAAAATTTTTTTTTTTTTGAGATGGAGTCTCACTGTATTGCCCAGAGTGGAGTGCAGTGGCACAATCTCAGCTCACTGCGACCTCCGCCTTCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGATGGGATTACACAAGCATGCCACCACCCCAGCTCATTTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTC... | TCTCGCTAGGTCCTCCCCTTGCCTGCCTTCTCCAGTTTCTCTCCCACTGCTCTAACTTAATCTTTCCACAAAATTTTTTTTTTTTTGAGATGGAGTCTCACTGTATTGCCCAGAGTGGAGTGCAGTGGCACAATCTCAGCTCACTGCGACCTCCGCCTTCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGATGGGATTACACAAGCATGCCACCACCCCAGCTCATTTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTC... |
Task1_train_591 | A mutation found in FUCA1 (alpha-L-fucosidase 1) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Fucosidosis | CTTTTTTTTTTAGAAGTGTGCATGAAGTTGCTTTAAGACTGTGAAGAACCATATAAGCAATATTATTATCATCAGCTTGCTCTCTAATTCTGGGCAGAAAGTGATCTAATTAAAATTGGCTGTGCTAATCTACTTACACTAATGTGTTACTTTTTTCTTTCACAACCAGGCTTCATTTGCCTCACAAGAACTACATATTTGGAATTCTTTATATCTCATGGCACAATCCATAAATTTATGAATCAGTAACATAATGAGTTAGTGTATTTTAACTTTTACAAACACAGTTTTTTCTTCTCCAAGTTTTTGTTATTGTTCTT... | CTTTTTTTTTTAGAAGTGTGCATGAAGTTGCTTTAAGACTGTGAAGAACCATATAAGCAATATTATTATCATCAGCTTGCTCTCTAATTCTGGGCAGAAAGTGATCTAATTAAAATTGGCTGTGCTAATCTACTTACACTAATGTGTTACTTTTTTCTTTCACAACCAGGCTTCATTTGCCTCACAAGAACTACATATTTGGAATTCTTTATATCTCATGGCACAATCCATAAATTTATGAATCAGTAACATAATGAGTTAGTGTATTTTAACTTTTACAAACACAGTTTTTTCTTCTCCAAGTTTTTGTTATTGTTCTT... |
Task1_train_592 | This variant lies on Chromosome 1 and affects the gene FUCA1 (alpha-L-fucosidase 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Fucosidosis | AAGACGGGGTTTCGCCATGTTGGCCAGACTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTCGGATTACAGGCGTGAGTCACTGTTTTGGGCCTAATTTCTTTTTTTTTAAGTGATGGAGTCTTGCTGTGTTGCCCAACACAACTTGCTGTGTTGTGCTGGGCTCAAGTGATCCTCCCACCTTGGCCTTAGAAAGTGCTGGGATTACAGGCATGAAGCACTGCACAAGGCCACTCATTCCCCTTTCAATTATCTACCAAATCCCAGTCCTCGAGTCTGTCACTGTTACTAGGGAGCA... | AAGACGGGGTTTCGCCATGTTGGCCAGACTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTCGGATTACAGGCGTGAGTCACTGTTTTGGGCCTAATTTCTTTTTTTTTAAGTGATGGAGTCTTGCTGTGTTGCCCAACACAACTTGCTGTGTTGTGCTGGGCTCAAGTGATCCTCCCACCTTGGCCTTAGAAAGTGCTGGGATTACAGGCATGAAGCACTGCACAAGGCCACTCATTCCCCTTTCAATTATCTACCAAATCCCAGTCCTCGAGTCTGTCACTGTTACTAGGGAGCA... |
Task1_train_593 | A mutation found in FUCA1, LOC126805661 (alpha-L-fucosidase 1| BRD4-independent group 4 enhancer GRCh37_chr1:24191742-24192941) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Fucosidosis | TAACACCAAAATATTATTTAAACCATCTTTTATCTTTTAAGTCAATTATCCCAACAGAGTATAGTCCTGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCCCTTGAGTCCATGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCTTGTCTCCACAAAAACTGTAAAAATTAGCTGAGTGTGGTGGTGCGAGCCTGTAGTCCCAGCTACTTGGGAGGCTAAAGTGGGAGGATGGCTTGAGCCCAGGAGGTAGAGATTGCAGTGAGCTAAGATTGTGCCACTGGAGTCTA... | TAACACCAAAATATTATTTAAACCATCTTTTATCTTTTAAGTCAATTATCCCAACAGAGTATAGTCCTGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCCCTTGAGTCCATGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCTTGTCTCCACAAAAACTGTAAAAATTAGCTGAGTGTGGTGGTGCGAGCCTGTAGTCCCAGCTACTTGGGAGGCTAAAGTGGGAGGATGGCTTGAGCCCAGGAGGTAGAGATTGCAGTGAGCTAAGATTGTGCCACTGGAGTCTA... |
Task1_train_594 | A mutation on Chromosome 1 affecting FUCA1 (alpha-L-fucosidase 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Fucosidosis | CTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATTACCTGAGGTCAGGGGTTCAAGACCAACCTGGCCAATGAGGCGAAAACCCATCTCAACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGTGTGCCTGTAGTCCCAGGTATTTGAGAGGCTGGGGCATAAGAATCACTTGAGCCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCATGCAACTGTACTCCAGCCTGGGCTACAGAGCAAAACTGTTTCAAAACAACAATAACAACAAAATAGAAAACTTTCTAGAAAACTAAGCTGTTTGGTT... | CTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATTACCTGAGGTCAGGGGTTCAAGACCAACCTGGCCAATGAGGCGAAAACCCATCTCAACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGTGTGCCTGTAGTCCCAGGTATTTGAGAGGCTGGGGCATAAGAATCACTTGAGCCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCATGCAACTGTACTCCAGCCTGGGCTACAGAGCAAAACTGTTTCAAAACAACAATAACAACAAAATAGAAAACTTTCTAGAAAACTAAGCTGTTTGGTT... |
Task1_train_595 | The gene GRHL3 (grainyhead like transcription factor 3) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Van der Woude syndrome 2 | ATAATCCTGTACCCCTCTCCCGCTTAACAGTTTGGGGTACATCCTTCCAGATCTTTTCCTAAACATGTGTTAATTGTACTCAGAGATACACGTTTCTTCCACCCTCCCCACTTTGTACACACCCCGCTAGGGTTGACTCAATACAGTTGTTTTGAAGTAGGGACGTTTTGACACAGAGACATTTGACTTTGGCTAAAAATAAACGATTAAACTTTCAGGGTTTTTTTTTTTTTTAATAAGTACTGTAATGGATAAAACAGATGTTGCTCCCTTAACCCTGAGCCTGTGCTTGGTTCCATTCTCAGCACCTCCCTGCTCAT... | ATAATCCTGTACCCCTCTCCCGCTTAACAGTTTGGGGTACATCCTTCCAGATCTTTTCCTAAACATGTGTTAATTGTACTCAGAGATACACGTTTCTTCCACCCTCCCCACTTTGTACACACCCCGCTAGGGTTGACTCAATACAGTTGTTTTGAAGTAGGGACGTTTTGACACAGAGACATTTGACTTTGGCTAAAAATAAACGATTAAACTTTCAGGGTTTTTTTTTTTTTTAATAAGTACTGTAATGGATAAAACAGATGTTGCTCCCTTAACCCTGAGCCTGTGCTTGGTTCCATTCTCAGCACCTCCCTGCTCAT... |
Task1_train_596 | Given this context: Chromosome 1, gene GRHL3 (grainyhead like transcription factor 3) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Isolated cleft palate | AAGCCACTGGGGGCACCCACGTTTCCTGACTTCTTGGCCAGCGCAGAATGTCGCATGCAGGAGAAATGCGAAGGAGTCCGGTGAATGAGGGCTCGAATCCCAGTTATCTCACTTCTCTGAGCCTGTAAAAATGAGAACAGTAACCTGCCTGCTAGGATTGGAGTGCAGAGCCCACAAGATCATGCATGTCTACAAACCGGAGAGGCCTGAGAGATGGAGCCTCTGGTGATGTTTTCATGCCAGTAGTTAAGCCATTAAGATTCTTCCAGCCTTAGTGCTTGAGCCCAGCCGCGGGCTTGCCATGTGCGCATGGGCCTCGC... | AAGCCACTGGGGGCACCCACGTTTCCTGACTTCTTGGCCAGCGCAGAATGTCGCATGCAGGAGAAATGCGAAGGAGTCCGGTGAATGAGGGCTCGAATCCCAGTTATCTCACTTCTCTGAGCCTGTAAAAATGAGAACAGTAACCTGCCTGCTAGGATTGGAGTGCAGAGCCCACAAGATCATGCATGTCTACAAACCGGAGAGGCCTGAGAGATGGAGCCTCTGGTGATGTTTTCATGCCAGTAGTTAAGCCATTAAGATTCTTCCAGCCTTAGTGCTTGAGCCCAGCCGCGGGCTTGCCATGTGCGCATGGGCCTCGC... |
Task1_train_597 | The following genetic variant occurs in RHD, RSRP1 (Rh blood group D antigen| arginine and serine rich protein 1) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hemolytic disease of fetus and newborn, RH-induced | ACATGAGGTCAGGAGTTCGAGACCAGCTTGGCCAAAAATTAGCCAGGCGTGGTGGCGCGCGCCTGTGGTTCCCACTGAAGCACAGGAGGCTGAAGCACAAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGCGAGCCGAGATCGCACCACTGCACTCCAACCTGGGCAACAGAGAGACTCTGTCTCGAAAAAAAAAAATTGTCTACATGCTGGTTGCAGAAAATTTAAACACTAAAACTAAAAAAGTAAAACACCTCCCAAACTTAGAGACAATATTAATGACGGAAAAAAAATTCTTCAAGATCTCTCTCTCTCCAG... | ACATGAGGTCAGGAGTTCGAGACCAGCTTGGCCAAAAATTAGCCAGGCGTGGTGGCGCGCGCCTGTGGTTCCCACTGAAGCACAGGAGGCTGAAGCACAAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGCGAGCCGAGATCGCACCACTGCACTCCAACCTGGGCAACAGAGAGACTCTGTCTCGAAAAAAAAAAATTGTCTACATGCTGGTTGCAGAAAATTTAAACACTAAAACTAAAAAAGTAAAACACCTCCCAAACTTAGAGACAATATTAATGACGGAAAAAAAATTCTTCAAGATCTCTCTCTCTCCAG... |
Task1_train_598 | Consider this mutation in RHD, RSRP1 (Rh blood group D antigen| arginine and serine rich protein 1) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | AGGTTCAGGAGGCCTGGGGTATGCAGATTTCAACCCTCTTGGCCTTTGTTTCCTTGTCTGTAAAATGTGGTTAGCTGGTATCAGCTTGAGAGCTCGGAGGGGAGACGTGACTTCCCCATCTAACTCTAAGTGACAAGGCTGAGACTCTCCAGCCCTAGGATTCTCATCCAAAACCCCTCGAGGCTCAGACCTTTGGAGCAGGAGTGTGATTCTGGCCAACCACCCTCTCTGGCCCCCAGGCGCCCTCTTCTTGTGGATGTTCTGGCCAAGTTTCAACTCTGCTCTGCTGAGAAGTCCAATCGAAAGGAAGAATGCCGTGT... | AGGTTCAGGAGGCCTGGGGTATGCAGATTTCAACCCTCTTGGCCTTTGTTTCCTTGTCTGTAAAATGTGGTTAGCTGGTATCAGCTTGAGAGCTCGGAGGGGAGACGTGACTTCCCCATCTAACTCTAAGTGACAAGGCTGAGACTCTCCAGCCCTAGGATTCTCATCCAAAACCCCTCGAGGCTCAGACCTTTGGAGCAGGAGTGTGATTCTGGCCAACCACCCTCTCTGGCCCCCAGGCGCCCTCTTCTTGTGGATGTTCTGGCCAAGTTTCAACTCTGCTCTGCTGAGAAGTCCAATCGAAAGGAAGAATGCCGTGT... |
Task1_train_599 | The following genetic variant occurs in LDLRAP1 (low density lipoprotein receptor adaptor protein 1) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hypercholesterolemia, familial, 4 | TTGCCCAAGGTCTCACGGGCAGGTAGCATGGACCAGGGCACTGAACCCACCTGGGTCTCCAGACACCCTGGGACATGGCCTTTCTCCTCTCCCACGTCTCCAGCTTTGGGTCCTTGGGCTGAGATGCTGGCGATGCACCCAGGCAGGAGGCCTGCCTGAGGCCGTGCCTCCAGGCGCCCACCCTGAGCTTGTGTCCTGAGTCCCTGTAGCTTACCCAGGGCTGGGACAAGCCCCAGCTGTGAGCATGGGCTCCCCCAAACATAGTTCTTATCTCCTGCTTTGTTTTCCCCAAGGAGCTGGATGATGGCCTGGATGAAGCG... | TTGCCCAAGGTCTCACGGGCAGGTAGCATGGACCAGGGCACTGAACCCACCTGGGTCTCCAGACACCCTGGGACATGGCCTTTCTCCTCTCCCACGTCTCCAGCTTTGGGTCCTTGGGCTGAGATGCTGGCGATGCACCCAGGCAGGAGGCCTGCCTGAGGCCGTGCCTCCAGGCGCCCACCCTGAGCTTGTGTCCTGAGTCCCTGTAGCTTACCCAGGGCTGGGACAAGCCCCAGCTGTGAGCATGGGCTCCCCCAAACATAGTTCTTATCTCCTGCTTTGTTTTCCCCAAGGAGCTGGATGATGGCCTGGATGAAGCG... |
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