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 |
|---|---|---|---|---|
Task1_train_23900 | Located on Chromosome 17, this mutation impacts LOC111811965, MIR4733HG, NF1 (NF1 (neurofibromin 1) promoter region| MIR4733 host gene| neurofibromin 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hereditary cancer-predisposing syndrome | GGGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACA... | GGGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACA... |
Task1_train_23901 | A variant found in Chromosome 17 affects LOC111811965, MIR4733HG, NF1 (NF1 (neurofibromin 1) promoter region| MIR4733 host gene| neurofibromin 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Cardiovascular phenotype | GGGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACA... | GGGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACA... |
Task1_train_23902 | This mutation occurs in LOC111811965, MIR4733HG, NF1 (NF1 (neurofibromin 1) promoter region| MIR4733 host gene| neurofibromin 1) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hereditary cancer-predisposing syndrome | GGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACAC... | GGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACAC... |
Task1_train_23903 | A mutation found in LOC111811965, MIR4733HG, NF1 (NF1 (neurofibromin 1) promoter region| MIR4733 host gene| neurofibromin 1) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Cardiovascular phenotype | GGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACAC... | GGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACAC... |
Task1_train_23904 | A variant has been detected on Chromosome 17 in LOC111811965, MIR4733HG, NF1 (NF1 (neurofibromin 1) promoter region| MIR4733 host gene| neurofibromin 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Neurofibromatosis, type 1 | GGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACAC... | GGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACAC... |
Task1_train_23905 | With a mutation on Chromosome 17 in gene LOC111811965, MIR4733HG, NF1 (NF1 (neurofibromin 1) promoter region| MIR4733 host gene| neurofibromin 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Hereditary cancer-predisposing syndrome | GGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACAC... | GGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACAC... |
Task1_train_23906 | A variant was discovered in gene LOC111811965, MIR4733HG, NF1 (NF1 (neurofibromin 1) promoter region| MIR4733 host gene| neurofibromin 1), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Cardiovascular phenotype | GGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACAC... | GGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACAC... |
Task1_train_23907 | A variant was discovered in gene LOC111811965, MIR4733HG, NF1 (NF1 (neurofibromin 1) promoter region| MIR4733 host gene| neurofibromin 1), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Neurofibromatosis, type 1 | GGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACAC... | GGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACAC... |
Task1_train_23908 | Assess the clinical impact of this variant on gene LOC111811965, MIR4733HG, NF1 (NF1 (neurofibromin 1) promoter region| MIR4733 host gene| neurofibromin 1), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Neurofibromatosis, type 1 | GATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACACC... | GATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACACC... |
Task1_train_23909 | Here’s a variant in LOC111811965, MIR4733HG, NF1 (NF1 (neurofibromin 1) promoter region| MIR4733 host gene| neurofibromin 1) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Cardiovascular phenotype | GATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACACC... | GATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACACC... |
Task1_train_23910 | This variant lies on Chromosome 17 and affects the gene LOC111811965, MIR4733HG, NF1 (NF1 (neurofibromin 1) promoter region| MIR4733 host gene| neurofibromin 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hereditary cancer-predisposing syndrome | GATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACACC... | GATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACACC... |
Task1_train_23911 | Here is a mutation in LOC111811965, MIR4733HG, NF1 (NF1 (neurofibromin 1) promoter region| MIR4733 host gene| neurofibromin 1) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Neoplasm | GATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACACC... | GATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACACC... |
Task1_train_23912 | This is a variant in LOC111811965, MIR4733HG, NF1 (NF1 (neurofibromin 1) promoter region| MIR4733 host gene| neurofibromin 1), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Hereditary cancer-predisposing syndrome | GATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACACC... | GATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACACC... |
Task1_train_23913 | Gene LOC111811965, MIR4733HG, NF1 (NF1 (neurofibromin 1) promoter region| MIR4733 host gene| neurofibromin 1) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Cardiovascular phenotype | GATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACACC... | GATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACACC... |
Task1_train_23914 | A variant on Chromosome 17 in gene NF1 (neurofibromin 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hereditary cancer-predisposing syndrome | ATCAGTTTGTGTTTTTACTAGAGAAGTTCTAGTTTCTTTGATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCTGTTGCCTAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAGCCTCCACCTGCTGTTCAAGCCATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCTCGGCTAACTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTTTGACCTCAAGTGATCCACCTGCCTTGGTCTCCCAAAGTTCTGGGATTAC... | ATCAGTTTGTGTTTTTACTAGAGAAGTTCTAGTTTCTTTGATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCTGTTGCCTAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAGCCTCCACCTGCTGTTCAAGCCATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCTCGGCTAACTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTTTGACCTCAAGTGATCCACCTGCCTTGGTCTCCCAAAGTTCTGGGATTAC... |
Task1_train_23915 | A sequence alteration has been identified in NF1 (neurofibromin 1) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Cardiovascular phenotype | ATCAGTTTGTGTTTTTACTAGAGAAGTTCTAGTTTCTTTGATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCTGTTGCCTAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAGCCTCCACCTGCTGTTCAAGCCATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCTCGGCTAACTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTTTGACCTCAAGTGATCCACCTGCCTTGGTCTCCCAAAGTTCTGGGATTAC... | ATCAGTTTGTGTTTTTACTAGAGAAGTTCTAGTTTCTTTGATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCTGTTGCCTAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAGCCTCCACCTGCTGTTCAAGCCATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCTCGGCTAACTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTTTGACCTCAAGTGATCCACCTGCCTTGGTCTCCCAAAGTTCTGGGATTAC... |
Task1_train_23916 | Here is a mutation in NF1 (neurofibromin 1) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Neurofibromatosis, type 1 | ATCAGTTTGTGTTTTTACTAGAGAAGTTCTAGTTTCTTTGATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCTGTTGCCTAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAGCCTCCACCTGCTGTTCAAGCCATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCTCGGCTAACTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTTTGACCTCAAGTGATCCACCTGCCTTGGTCTCCCAAAGTTCTGGGATTAC... | ATCAGTTTGTGTTTTTACTAGAGAAGTTCTAGTTTCTTTGATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCTGTTGCCTAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAGCCTCCACCTGCTGTTCAAGCCATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCTCGGCTAACTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTTTGACCTCAAGTGATCCACCTGCCTTGGTCTCCCAAAGTTCTGGGATTAC... |
Task1_train_23917 | The gene NF1 (neurofibromin 1) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Hereditary cancer-predisposing syndrome | ATGAATGACAGGGTCTCATTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTTACTGTAACCTCCCCCTTCCCAGTTCAAGTGATTTTGCTGCCTCAGGCTCCCCAGTAGCTGGAATTACAGGCATGTGCCACCATGCTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACTATTTTGGCCAGGCTGGTCTCAAACTCCTGACATTAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCAGCCTGCATTTATAATCCCAGTTTGTATTTGTTTGT... | ATGAATGACAGGGTCTCATTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTTACTGTAACCTCCCCCTTCCCAGTTCAAGTGATTTTGCTGCCTCAGGCTCCCCAGTAGCTGGAATTACAGGCATGTGCCACCATGCTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACTATTTTGGCCAGGCTGGTCTCAAACTCCTGACATTAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCAGCCTGCATTTATAATCCCAGTTTGTATTTGTTTGT... |
Task1_train_23918 | This alteration in NF1 (neurofibromin 1) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Cardiovascular phenotype | ATGAATGACAGGGTCTCATTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTTACTGTAACCTCCCCCTTCCCAGTTCAAGTGATTTTGCTGCCTCAGGCTCCCCAGTAGCTGGAATTACAGGCATGTGCCACCATGCTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACTATTTTGGCCAGGCTGGTCTCAAACTCCTGACATTAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCAGCCTGCATTTATAATCCCAGTTTGTATTTGTTTGT... | ATGAATGACAGGGTCTCATTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTTACTGTAACCTCCCCCTTCCCAGTTCAAGTGATTTTGCTGCCTCAGGCTCCCCAGTAGCTGGAATTACAGGCATGTGCCACCATGCTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACTATTTTGGCCAGGCTGGTCTCAAACTCCTGACATTAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCAGCCTGCATTTATAATCCCAGTTTGTATTTGTTTGT... |
Task1_train_23919 | Given this context: Chromosome 17, gene NF1 (neurofibromin 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Neurofibromatosis, type 1 | ATGAATGACAGGGTCTCATTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTTACTGTAACCTCCCCCTTCCCAGTTCAAGTGATTTTGCTGCCTCAGGCTCCCCAGTAGCTGGAATTACAGGCATGTGCCACCATGCTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACTATTTTGGCCAGGCTGGTCTCAAACTCCTGACATTAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCAGCCTGCATTTATAATCCCAGTTTGTATTTGTTTGT... | ATGAATGACAGGGTCTCATTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTTACTGTAACCTCCCCCTTCCCAGTTCAAGTGATTTTGCTGCCTCAGGCTCCCCAGTAGCTGGAATTACAGGCATGTGCCACCATGCTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACTATTTTGGCCAGGCTGGTCTCAAACTCCTGACATTAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCAGCCTGCATTTATAATCCCAGTTTGTATTTGTTTGT... |
Task1_train_23920 | Here’s a variant in NF1 (neurofibromin 1) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Neurofibromatosis, type 1 | TGAATGACAGGGTCTCATTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTTACTGTAACCTCCCCCTTCCCAGTTCAAGTGATTTTGCTGCCTCAGGCTCCCCAGTAGCTGGAATTACAGGCATGTGCCACCATGCTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACTATTTTGGCCAGGCTGGTCTCAAACTCCTGACATTAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCAGCCTGCATTTATAATCCCAGTTTGTATTTGTTTGTA... | TGAATGACAGGGTCTCATTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTTACTGTAACCTCCCCCTTCCCAGTTCAAGTGATTTTGCTGCCTCAGGCTCCCCAGTAGCTGGAATTACAGGCATGTGCCACCATGCTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACTATTTTGGCCAGGCTGGTCTCAAACTCCTGACATTAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCAGCCTGCATTTATAATCCCAGTTTGTATTTGTTTGTA... |
Task1_train_23921 | This variant impacts the gene NF1 (neurofibromin 1) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Neurofibromatosis, type 1 | ATAAACAAGAAATAGGCATTGTAATGTGAATTCACAGGTTTTTGTGAAGTCTGTTTATGTACTGTCCCTATGTTTCAGTGTATTTGCATCTGAGAGTGCTTGGATTGCAGTTACAGAATTGAGCGTAGCATACAATTGTACACATTTTTGTTCTTTGCCATCTTGCTCAGTGTTATTAAAATTCTTATCCGCATGTAGTTATCAAGACTGTTAGGTGAAATAGTAATGTGGAACAGCATACCTACAGGATAGCTTATCCATTGATTGTGTGTTAATTGTAAAGTATATATTTACAAAGTAGAGATTTCACTGTTAACACC... | ATAAACAAGAAATAGGCATTGTAATGTGAATTCACAGGTTTTTGTGAAGTCTGTTTATGTACTGTCCCTATGTTTCAGTGTATTTGCATCTGAGAGTGCTTGGATTGCAGTTACAGAATTGAGCGTAGCATACAATTGTACACATTTTTGTTCTTTGCCATCTTGCTCAGTGTTATTAAAATTCTTATCCGCATGTAGTTATCAAGACTGTTAGGTGAAATAGTAATGTGGAACAGCATACCTACAGGATAGCTTATCCATTGATTGTGTGTTAATTGTAAAGTATATATTTACAAAGTAGAGATTTCACTGTTAACACC... |
Task1_train_23922 | An alteration has been detected in NF1 (neurofibromin 1) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hereditary cancer-predisposing syndrome | GAAGTCTGTTTATGTACTGTCCCTATGTTTCAGTGTATTTGCATCTGAGAGTGCTTGGATTGCAGTTACAGAATTGAGCGTAGCATACAATTGTACACATTTTTGTTCTTTGCCATCTTGCTCAGTGTTATTAAAATTCTTATCCGCATGTAGTTATCAAGACTGTTAGGTGAAATAGTAATGTGGAACAGCATACCTACAGGATAGCTTATCCATTGATTGTGTGTTAATTGTAAAGTATATATTTACAAAGTAGAGATTTCACTGTTAACACCGAAGTTATCAAACTTGGTGTCAATAACAGGACCACCTGGCCTTAT... | GAAGTCTGTTTATGTACTGTCCCTATGTTTCAGTGTATTTGCATCTGAGAGTGCTTGGATTGCAGTTACAGAATTGAGCGTAGCATACAATTGTACACATTTTTGTTCTTTGCCATCTTGCTCAGTGTTATTAAAATTCTTATCCGCATGTAGTTATCAAGACTGTTAGGTGAAATAGTAATGTGGAACAGCATACCTACAGGATAGCTTATCCATTGATTGTGTGTTAATTGTAAAGTATATATTTACAAAGTAGAGATTTCACTGTTAACACCGAAGTTATCAAACTTGGTGTCAATAACAGGACCACCTGGCCTTAT... |
Task1_train_23923 | This variant affects the gene NF1 (neurofibromin 1) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Cardiovascular phenotype | GAAGTCTGTTTATGTACTGTCCCTATGTTTCAGTGTATTTGCATCTGAGAGTGCTTGGATTGCAGTTACAGAATTGAGCGTAGCATACAATTGTACACATTTTTGTTCTTTGCCATCTTGCTCAGTGTTATTAAAATTCTTATCCGCATGTAGTTATCAAGACTGTTAGGTGAAATAGTAATGTGGAACAGCATACCTACAGGATAGCTTATCCATTGATTGTGTGTTAATTGTAAAGTATATATTTACAAAGTAGAGATTTCACTGTTAACACCGAAGTTATCAAACTTGGTGTCAATAACAGGACCACCTGGCCTTAT... | GAAGTCTGTTTATGTACTGTCCCTATGTTTCAGTGTATTTGCATCTGAGAGTGCTTGGATTGCAGTTACAGAATTGAGCGTAGCATACAATTGTACACATTTTTGTTCTTTGCCATCTTGCTCAGTGTTATTAAAATTCTTATCCGCATGTAGTTATCAAGACTGTTAGGTGAAATAGTAATGTGGAACAGCATACCTACAGGATAGCTTATCCATTGATTGTGTGTTAATTGTAAAGTATATATTTACAAAGTAGAGATTTCACTGTTAACACCGAAGTTATCAAACTTGGTGTCAATAACAGGACCACCTGGCCTTAT... |
Task1_train_23924 | The gene NF1 (neurofibromin 1), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Neurofibromatosis, type 1 | GAAGTCTGTTTATGTACTGTCCCTATGTTTCAGTGTATTTGCATCTGAGAGTGCTTGGATTGCAGTTACAGAATTGAGCGTAGCATACAATTGTACACATTTTTGTTCTTTGCCATCTTGCTCAGTGTTATTAAAATTCTTATCCGCATGTAGTTATCAAGACTGTTAGGTGAAATAGTAATGTGGAACAGCATACCTACAGGATAGCTTATCCATTGATTGTGTGTTAATTGTAAAGTATATATTTACAAAGTAGAGATTTCACTGTTAACACCGAAGTTATCAAACTTGGTGTCAATAACAGGACCACCTGGCCTTAT... | GAAGTCTGTTTATGTACTGTCCCTATGTTTCAGTGTATTTGCATCTGAGAGTGCTTGGATTGCAGTTACAGAATTGAGCGTAGCATACAATTGTACACATTTTTGTTCTTTGCCATCTTGCTCAGTGTTATTAAAATTCTTATCCGCATGTAGTTATCAAGACTGTTAGGTGAAATAGTAATGTGGAACAGCATACCTACAGGATAGCTTATCCATTGATTGTGTGTTAATTGTAAAGTATATATTTACAAAGTAGAGATTTCACTGTTAACACCGAAGTTATCAAACTTGGTGTCAATAACAGGACCACCTGGCCTTAT... |
Task1_train_23925 | A change on Chromosome 17 affects gene NF1 (neurofibromin 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Neurofibromatosis, type 1 | TGTGAAAAGTGCAATGAAAAAAGGCTTACTCGGTTTTCAAATACAAAGTAAATGTACCCTGTGAATATAAAGTTTCATTCGTGTTTCAAAAATCTAGTTGATAAAAGTAGAAGTTAGTAAAATCAAGTTTACTTATTATAGTTTTAGTCTTAATTCAAATTATACTTTTACTTGTAATTGGAAATATGAATTTTTAAAACTATTCATTGTGGAAAAATGGAAAAATACACATAGAATAGTACTTCAAATCCCCATGCATCTCTTACTCTGCTTTAACTGTTTCTGGCATGCTATGGTTTCTCTTCTTCCCTTTTCAGTAA... | TGTGAAAAGTGCAATGAAAAAAGGCTTACTCGGTTTTCAAATACAAAGTAAATGTACCCTGTGAATATAAAGTTTCATTCGTGTTTCAAAAATCTAGTTGATAAAAGTAGAAGTTAGTAAAATCAAGTTTACTTATTATAGTTTTAGTCTTAATTCAAATTATACTTTTACTTGTAATTGGAAATATGAATTTTTAAAACTATTCATTGTGGAAAAATGGAAAAATACACATAGAATAGTACTTCAAATCCCCATGCATCTCTTACTCTGCTTTAACTGTTTCTGGCATGCTATGGTTTCTCTTCTTCCCTTTTCAGTAA... |
Task1_train_23926 | This variant affects gene NF1 (neurofibromin 1) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Neurofibromatosis, type 1 | TGTGAAAAGTGCAATGAAAAAAGGCTTACTCGGTTTTCAAATACAAAGTAAATGTACCCTGTGAATATAAAGTTTCATTCGTGTTTCAAAAATCTAGTTGATAAAAGTAGAAGTTAGTAAAATCAAGTTTACTTATTATAGTTTTAGTCTTAATTCAAATTATACTTTTACTTGTAATTGGAAATATGAATTTTTAAAACTATTCATTGTGGAAAAATGGAAAAATACACATAGAATAGTACTTCAAATCCCCATGCATCTCTTACTCTGCTTTAACTGTTTCTGGCATGCTATGGTTTCTCTTCTTCCCTTTTCAGTAA... | TGTGAAAAGTGCAATGAAAAAAGGCTTACTCGGTTTTCAAATACAAAGTAAATGTACCCTGTGAATATAAAGTTTCATTCGTGTTTCAAAAATCTAGTTGATAAAAGTAGAAGTTAGTAAAATCAAGTTTACTTATTATAGTTTTAGTCTTAATTCAAATTATACTTTTACTTGTAATTGGAAATATGAATTTTTAAAACTATTCATTGTGGAAAAATGGAAAAATACACATAGAATAGTACTTCAAATCCCCATGCATCTCTTACTCTGCTTTAACTGTTTCTGGCATGCTATGGTTTCTCTTCTTCCCTTTTCAGTAA... |
Task1_train_23927 | This mutation is located in gene NF1 (neurofibromin 1) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Neurofibromatosis, type 1 | TTTTCTTTGGGAGCTTTGTGATTACTGATTAATCCCTTTACTAGTTATAGTTCTATTTAGATTTTCTATTTCCTCATGAGTTAGTTTCGGTAGACTGTGTGTTTGTAGAAATTTGTCCATTTTGTCCAGGTTATCCAAATTGTTGGCATACAGTTTTACATAGTATCGTCTCATAATTCTTTTTATTTTTGCAAAATCAGTAGTGTCACCACTTTTTTTGTTGTTGTTGAGGGGGTGGGGGGGATAGAGTCTTGCTCTTTCGCACAGGCTGGAGTGCAGTGACAAGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTT... | TTTTCTTTGGGAGCTTTGTGATTACTGATTAATCCCTTTACTAGTTATAGTTCTATTTAGATTTTCTATTTCCTCATGAGTTAGTTTCGGTAGACTGTGTGTTTGTAGAAATTTGTCCATTTTGTCCAGGTTATCCAAATTGTTGGCATACAGTTTTACATAGTATCGTCTCATAATTCTTTTTATTTTTGCAAAATCAGTAGTGTCACCACTTTTTTTGTTGTTGTTGAGGGGGTGGGGGGGATAGAGTCTTGCTCTTTCGCACAGGCTGGAGTGCAGTGACAAGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTT... |
Task1_train_23928 | This gene mutation involves NF1 (neurofibromin 1) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Neurofibromatosis, type 1 | ATTTTCTATTTCCTCATGAGTTAGTTTCGGTAGACTGTGTGTTTGTAGAAATTTGTCCATTTTGTCCAGGTTATCCAAATTGTTGGCATACAGTTTTACATAGTATCGTCTCATAATTCTTTTTATTTTTGCAAAATCAGTAGTGTCACCACTTTTTTTGTTGTTGTTGAGGGGGTGGGGGGGATAGAGTCTTGCTCTTTCGCACAGGCTGGAGTGCAGTGACAAGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCTTCCCTAGTAGCTGGGACTACAGGCATGCACCACCATG... | ATTTTCTATTTCCTCATGAGTTAGTTTCGGTAGACTGTGTGTTTGTAGAAATTTGTCCATTTTGTCCAGGTTATCCAAATTGTTGGCATACAGTTTTACATAGTATCGTCTCATAATTCTTTTTATTTTTGCAAAATCAGTAGTGTCACCACTTTTTTTGTTGTTGTTGAGGGGGTGGGGGGGATAGAGTCTTGCTCTTTCGCACAGGCTGGAGTGCAGTGACAAGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCTTCCCTAGTAGCTGGGACTACAGGCATGCACCACCATG... |
Task1_train_23929 | This alteration occurs within gene NF1 (neurofibromin 1) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Neurofibromatosis, type 1 | GTAGAAATTTGTCCATTTTGTCCAGGTTATCCAAATTGTTGGCATACAGTTTTACATAGTATCGTCTCATAATTCTTTTTATTTTTGCAAAATCAGTAGTGTCACCACTTTTTTTGTTGTTGTTGAGGGGGTGGGGGGGATAGAGTCTTGCTCTTTCGCACAGGCTGGAGTGCAGTGACAAGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCTTCCCTAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGTGTAATTTTTGTCTTCTTTACAGTAGAGATGGGGGTTTTA... | GTAGAAATTTGTCCATTTTGTCCAGGTTATCCAAATTGTTGGCATACAGTTTTACATAGTATCGTCTCATAATTCTTTTTATTTTTGCAAAATCAGTAGTGTCACCACTTTTTTTGTTGTTGTTGAGGGGGTGGGGGGGATAGAGTCTTGCTCTTTCGCACAGGCTGGAGTGCAGTGACAAGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCTTCCCTAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGTGTAATTTTTGTCTTCTTTACAGTAGAGATGGGGGTTTTA... |
Task1_train_23930 | A variant has been detected on Chromosome 17 in NF1 (neurofibromin 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Neurofibromatosis, type 1 | TGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCAAGTGGATCACCTGAGATCAGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTT... | TGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCAAGTGGATCACCTGAGATCAGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTT... |
Task1_train_23931 | A mutation found in NF1 (neurofibromin 1) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Neurofibromatosis-Noonan syndrome | AGGCAAGTGGATCACCTGAGATCAGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATCAAGTATTGTATACTGTACATAATTGTATGTG... | AGGCAAGTGGATCACCTGAGATCAGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATCAAGTATTGTATACTGTACATAATTGTATGTG... |
Task1_train_23932 | The following genetic variant occurs in NF1 (neurofibromin 1) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Juvenile myelomonocytic leukemia | AGGCAAGTGGATCACCTGAGATCAGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATCAAGTATTGTATACTGTACATAATTGTATGTG... | AGGCAAGTGGATCACCTGAGATCAGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATCAAGTATTGTATACTGTACATAATTGTATGTG... |
Task1_train_23933 | Given this context: Chromosome 17, gene NF1 (neurofibromin 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Café-au-lait macules with pulmonary stenosis | AGGCAAGTGGATCACCTGAGATCAGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATCAAGTATTGTATACTGTACATAATTGTATGTG... | AGGCAAGTGGATCACCTGAGATCAGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATCAAGTATTGTATACTGTACATAATTGTATGTG... |
Task1_train_23934 | Chromosome 17 houses a mutation in gene NF1 (neurofibromin 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Juvenile myelomonocytic leukemia | AGGCAAGTGGATCACCTGAGATCAGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATCAAGTATTGTATACTGTACATAATTGTATGTG... | AGGCAAGTGGATCACCTGAGATCAGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATCAAGTATTGTATACTGTACATAATTGTATGTG... |
Task1_train_23935 | A mutation on Chromosome 17 affecting NF1 (neurofibromin 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Neurofibromatosis-Noonan syndrome | AGGCAAGTGGATCACCTGAGATCAGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATCAAGTATTGTATACTGTACATAATTGTATGTG... | AGGCAAGTGGATCACCTGAGATCAGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATCAAGTATTGTATACTGTACATAATTGTATGTG... |
Task1_train_23936 | A variant found in Chromosome 17 affects NF1 (neurofibromin 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Neurofibromatosis, type 1 | AGGCAAGTGGATCACCTGAGATCAGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATCAAGTATTGTATACTGTACATAATTGTATGTG... | AGGCAAGTGGATCACCTGAGATCAGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATCAAGTATTGTATACTGTACATAATTGTATGTG... |
Task1_train_23937 | Here is a mutation in NF1 (neurofibromin 1) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Neurofibromatosis, familial spinal | AGGCAAGTGGATCACCTGAGATCAGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATCAAGTATTGTATACTGTACATAATTGTATGTG... | AGGCAAGTGGATCACCTGAGATCAGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATCAAGTATTGTATACTGTACATAATTGTATGTG... |
Task1_train_23938 | A genomic change on Chromosome 17 affects NF1 (neurofibromin 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Neurofibromatosis, type 1 | AGGCAAGTGGATCACCTGAGATCAGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATCAAGTATTGTATACTGTACATAATTGTATGTG... | AGGCAAGTGGATCACCTGAGATCAGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATCAAGTATTGTATACTGTACATAATTGTATGTG... |
Task1_train_23939 | Given this variant in gene NF1 (neurofibromin 1) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hereditary cancer-predisposing syndrome | AGGCAAGTGGATCACCTGAGATCAGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATCAAGTATTGTATACTGTACATAATTGTATGTG... | AGGCAAGTGGATCACCTGAGATCAGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATCAAGTATTGTATACTGTACATAATTGTATGTG... |
Task1_train_23940 | This alteration in NF1 (neurofibromin 1) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Neurofibromatosis, type 1 | AGGCAAGTGGATCACCTGAGATCAGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATCAAGTATTGTATACTGTACATAATTGTATGTG... | AGGCAAGTGGATCACCTGAGATCAGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATCAAGTATTGTATACTGTACATAATTGTATGTG... |
Task1_train_23941 | This is a variant in NF1 (neurofibromin 1), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Tibial pseudarthrosis | AGGCAAGTGGATCACCTGAGATCAGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATCAAGTATTGTATACTGTACATAATTGTATGTG... | AGGCAAGTGGATCACCTGAGATCAGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATCAAGTATTGTATACTGTACATAATTGTATGTG... |
Task1_train_23942 | Given a variant located on Chromosome 17 and affecting NF1 (neurofibromin 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Abnormality of the skin | AGGCAAGTGGATCACCTGAGATCAGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATCAAGTATTGTATACTGTACATAATTGTATGTG... | AGGCAAGTGGATCACCTGAGATCAGGAGTCGAGACCAGCCTGGCCAACATGGCAAAACCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATCAAGTATTGTATACTGTACATAATTGTATGTG... |
Task1_train_23943 | With a mutation on Chromosome 17 in gene NF1 (neurofibromin 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Neurofibromatosis, type 1 | CCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATCAAGTATTGTATACTGTACATAATTGTATGTGCTATACTTTTTTTTTATATGACTAGAAGTGAAGATTTGTTTACACCAGCATCACTAC... | CCTCTTCTCTACTAAAAATAGAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTGCAGTTAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTTGGTCTCAAAATATATATATTATAATAAATACATAAACCAGTAACAGTTATTTATTCTCATCAAGTATTGTATACTGTACATAATTGTATGTGCTATACTTTTTTTTTATATGACTAGAAGTGAAGATTTGTTTACACCAGCATCACTAC... |
Task1_train_23944 | Gene NF1 (neurofibromin 1) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Neurofibromatosis, type 1 | TGAATCACTATTTTCTTCCTTTTTATTGCCAAATATTTCATTGTATGGATCTGTTTTGTTCATCTAGTTATCAGTTGGTGGACGTTTGGTGTTGTTTCTACTTTTTAGCTATTACAAATAATGCTGCTATGAACATTTGTGTAAAAGTCTATATGTGGACATATCTCTTAAGTATATAGGAGTGGAACTGCTAAGTCGTGTGGTAACTCTGTCGAACTTTTGAGGAACTGTCAAACTCTTTTTCTGAAGCAGCTGTATCATTTTATATTCCCAGTAACAACATATGAAGGTTTTAATAGTTCTGTATGCTTGCTAACACT... | TGAATCACTATTTTCTTCCTTTTTATTGCCAAATATTTCATTGTATGGATCTGTTTTGTTCATCTAGTTATCAGTTGGTGGACGTTTGGTGTTGTTTCTACTTTTTAGCTATTACAAATAATGCTGCTATGAACATTTGTGTAAAAGTCTATATGTGGACATATCTCTTAAGTATATAGGAGTGGAACTGCTAAGTCGTGTGGTAACTCTGTCGAACTTTTGAGGAACTGTCAAACTCTTTTTCTGAAGCAGCTGTATCATTTTATATTCCCAGTAACAACATATGAAGGTTTTAATAGTTCTGTATGCTTGCTAACACT... |
Task1_train_23945 | Given this context: Chromosome 17, gene NF1 (neurofibromin 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Hereditary cancer-predisposing syndrome | TGAATCACTATTTTCTTCCTTTTTATTGCCAAATATTTCATTGTATGGATCTGTTTTGTTCATCTAGTTATCAGTTGGTGGACGTTTGGTGTTGTTTCTACTTTTTAGCTATTACAAATAATGCTGCTATGAACATTTGTGTAAAAGTCTATATGTGGACATATCTCTTAAGTATATAGGAGTGGAACTGCTAAGTCGTGTGGTAACTCTGTCGAACTTTTGAGGAACTGTCAAACTCTTTTTCTGAAGCAGCTGTATCATTTTATATTCCCAGTAACAACATATGAAGGTTTTAATAGTTCTGTATGCTTGCTAACACT... | TGAATCACTATTTTCTTCCTTTTTATTGCCAAATATTTCATTGTATGGATCTGTTTTGTTCATCTAGTTATCAGTTGGTGGACGTTTGGTGTTGTTTCTACTTTTTAGCTATTACAAATAATGCTGCTATGAACATTTGTGTAAAAGTCTATATGTGGACATATCTCTTAAGTATATAGGAGTGGAACTGCTAAGTCGTGTGGTAACTCTGTCGAACTTTTGAGGAACTGTCAAACTCTTTTTCTGAAGCAGCTGTATCATTTTATATTCCCAGTAACAACATATGAAGGTTTTAATAGTTCTGTATGCTTGCTAACACT... |
Task1_train_23946 | Given this variant in gene NF1 (neurofibromin 1) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Neurofibromatosis, type 1 | TGAATCACTATTTTCTTCCTTTTTATTGCCAAATATTTCATTGTATGGATCTGTTTTGTTCATCTAGTTATCAGTTGGTGGACGTTTGGTGTTGTTTCTACTTTTTAGCTATTACAAATAATGCTGCTATGAACATTTGTGTAAAAGTCTATATGTGGACATATCTCTTAAGTATATAGGAGTGGAACTGCTAAGTCGTGTGGTAACTCTGTCGAACTTTTGAGGAACTGTCAAACTCTTTTTCTGAAGCAGCTGTATCATTTTATATTCCCAGTAACAACATATGAAGGTTTTAATAGTTCTGTATGCTTGCTAACACT... | TGAATCACTATTTTCTTCCTTTTTATTGCCAAATATTTCATTGTATGGATCTGTTTTGTTCATCTAGTTATCAGTTGGTGGACGTTTGGTGTTGTTTCTACTTTTTAGCTATTACAAATAATGCTGCTATGAACATTTGTGTAAAAGTCTATATGTGGACATATCTCTTAAGTATATAGGAGTGGAACTGCTAAGTCGTGTGGTAACTCTGTCGAACTTTTGAGGAACTGTCAAACTCTTTTTCTGAAGCAGCTGTATCATTTTATATTCCCAGTAACAACATATGAAGGTTTTAATAGTTCTGTATGCTTGCTAACACT... |
Task1_train_23947 | Located on Chromosome 17, this mutation impacts NF1 (neurofibromin 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Neurofibromatosis, type 1 | GAATCACTATTTTCTTCCTTTTTATTGCCAAATATTTCATTGTATGGATCTGTTTTGTTCATCTAGTTATCAGTTGGTGGACGTTTGGTGTTGTTTCTACTTTTTAGCTATTACAAATAATGCTGCTATGAACATTTGTGTAAAAGTCTATATGTGGACATATCTCTTAAGTATATAGGAGTGGAACTGCTAAGTCGTGTGGTAACTCTGTCGAACTTTTGAGGAACTGTCAAACTCTTTTTCTGAAGCAGCTGTATCATTTTATATTCCCAGTAACAACATATGAAGGTTTTAATAGTTCTGTATGCTTGCTAACACTT... | GAATCACTATTTTCTTCCTTTTTATTGCCAAATATTTCATTGTATGGATCTGTTTTGTTCATCTAGTTATCAGTTGGTGGACGTTTGGTGTTGTTTCTACTTTTTAGCTATTACAAATAATGCTGCTATGAACATTTGTGTAAAAGTCTATATGTGGACATATCTCTTAAGTATATAGGAGTGGAACTGCTAAGTCGTGTGGTAACTCTGTCGAACTTTTGAGGAACTGTCAAACTCTTTTTCTGAAGCAGCTGTATCATTTTATATTCCCAGTAACAACATATGAAGGTTTTAATAGTTCTGTATGCTTGCTAACACTT... |
Task1_train_23948 | This genomic variant is located on Chromosome 17, within the NF1 (neurofibromin 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Neurofibromatosis, type 1 | GAATCACTATTTTCTTCCTTTTTATTGCCAAATATTTCATTGTATGGATCTGTTTTGTTCATCTAGTTATCAGTTGGTGGACGTTTGGTGTTGTTTCTACTTTTTAGCTATTACAAATAATGCTGCTATGAACATTTGTGTAAAAGTCTATATGTGGACATATCTCTTAAGTATATAGGAGTGGAACTGCTAAGTCGTGTGGTAACTCTGTCGAACTTTTGAGGAACTGTCAAACTCTTTTTCTGAAGCAGCTGTATCATTTTATATTCCCAGTAACAACATATGAAGGTTTTAATAGTTCTGTATGCTTGCTAACACTT... | GAATCACTATTTTCTTCCTTTTTATTGCCAAATATTTCATTGTATGGATCTGTTTTGTTCATCTAGTTATCAGTTGGTGGACGTTTGGTGTTGTTTCTACTTTTTAGCTATTACAAATAATGCTGCTATGAACATTTGTGTAAAAGTCTATATGTGGACATATCTCTTAAGTATATAGGAGTGGAACTGCTAAGTCGTGTGGTAACTCTGTCGAACTTTTGAGGAACTGTCAAACTCTTTTTCTGAAGCAGCTGTATCATTTTATATTCCCAGTAACAACATATGAAGGTTTTAATAGTTCTGTATGCTTGCTAACACTT... |
Task1_train_23949 | The gene NF1 (neurofibromin 1) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Neurofibromatosis, type 1 | AATCACTATTTTCTTCCTTTTTATTGCCAAATATTTCATTGTATGGATCTGTTTTGTTCATCTAGTTATCAGTTGGTGGACGTTTGGTGTTGTTTCTACTTTTTAGCTATTACAAATAATGCTGCTATGAACATTTGTGTAAAAGTCTATATGTGGACATATCTCTTAAGTATATAGGAGTGGAACTGCTAAGTCGTGTGGTAACTCTGTCGAACTTTTGAGGAACTGTCAAACTCTTTTTCTGAAGCAGCTGTATCATTTTATATTCCCAGTAACAACATATGAAGGTTTTAATAGTTCTGTATGCTTGCTAACACTTC... | AATCACTATTTTCTTCCTTTTTATTGCCAAATATTTCATTGTATGGATCTGTTTTGTTCATCTAGTTATCAGTTGGTGGACGTTTGGTGTTGTTTCTACTTTTTAGCTATTACAAATAATGCTGCTATGAACATTTGTGTAAAAGTCTATATGTGGACATATCTCTTAAGTATATAGGAGTGGAACTGCTAAGTCGTGTGGTAACTCTGTCGAACTTTTGAGGAACTGTCAAACTCTTTTTCTGAAGCAGCTGTATCATTTTATATTCCCAGTAACAACATATGAAGGTTTTAATAGTTCTGTATGCTTGCTAACACTTC... |
Task1_train_23950 | A variant has been detected on Chromosome 17 in NF1 (neurofibromin 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Optic nerve glioma | AATCACTATTTTCTTCCTTTTTATTGCCAAATATTTCATTGTATGGATCTGTTTTGTTCATCTAGTTATCAGTTGGTGGACGTTTGGTGTTGTTTCTACTTTTTAGCTATTACAAATAATGCTGCTATGAACATTTGTGTAAAAGTCTATATGTGGACATATCTCTTAAGTATATAGGAGTGGAACTGCTAAGTCGTGTGGTAACTCTGTCGAACTTTTGAGGAACTGTCAAACTCTTTTTCTGAAGCAGCTGTATCATTTTATATTCCCAGTAACAACATATGAAGGTTTTAATAGTTCTGTATGCTTGCTAACACTTC... | AATCACTATTTTCTTCCTTTTTATTGCCAAATATTTCATTGTATGGATCTGTTTTGTTCATCTAGTTATCAGTTGGTGGACGTTTGGTGTTGTTTCTACTTTTTAGCTATTACAAATAATGCTGCTATGAACATTTGTGTAAAAGTCTATATGTGGACATATCTCTTAAGTATATAGGAGTGGAACTGCTAAGTCGTGTGGTAACTCTGTCGAACTTTTGAGGAACTGTCAAACTCTTTTTCTGAAGCAGCTGTATCATTTTATATTCCCAGTAACAACATATGAAGGTTTTAATAGTTCTGTATGCTTGCTAACACTTC... |
Task1_train_23951 | A change on Chromosome 17 affects gene NF1 (neurofibromin 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Cafe au lait spots, multiple | AATCACTATTTTCTTCCTTTTTATTGCCAAATATTTCATTGTATGGATCTGTTTTGTTCATCTAGTTATCAGTTGGTGGACGTTTGGTGTTGTTTCTACTTTTTAGCTATTACAAATAATGCTGCTATGAACATTTGTGTAAAAGTCTATATGTGGACATATCTCTTAAGTATATAGGAGTGGAACTGCTAAGTCGTGTGGTAACTCTGTCGAACTTTTGAGGAACTGTCAAACTCTTTTTCTGAAGCAGCTGTATCATTTTATATTCCCAGTAACAACATATGAAGGTTTTAATAGTTCTGTATGCTTGCTAACACTTC... | AATCACTATTTTCTTCCTTTTTATTGCCAAATATTTCATTGTATGGATCTGTTTTGTTCATCTAGTTATCAGTTGGTGGACGTTTGGTGTTGTTTCTACTTTTTAGCTATTACAAATAATGCTGCTATGAACATTTGTGTAAAAGTCTATATGTGGACATATCTCTTAAGTATATAGGAGTGGAACTGCTAAGTCGTGTGGTAACTCTGTCGAACTTTTGAGGAACTGTCAAACTCTTTTTCTGAAGCAGCTGTATCATTTTATATTCCCAGTAACAACATATGAAGGTTTTAATAGTTCTGTATGCTTGCTAACACTTC... |
Task1_train_23952 | A change on Chromosome 17 affects gene NF1 (neurofibromin 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Neurofibroma | AATCACTATTTTCTTCCTTTTTATTGCCAAATATTTCATTGTATGGATCTGTTTTGTTCATCTAGTTATCAGTTGGTGGACGTTTGGTGTTGTTTCTACTTTTTAGCTATTACAAATAATGCTGCTATGAACATTTGTGTAAAAGTCTATATGTGGACATATCTCTTAAGTATATAGGAGTGGAACTGCTAAGTCGTGTGGTAACTCTGTCGAACTTTTGAGGAACTGTCAAACTCTTTTTCTGAAGCAGCTGTATCATTTTATATTCCCAGTAACAACATATGAAGGTTTTAATAGTTCTGTATGCTTGCTAACACTTC... | AATCACTATTTTCTTCCTTTTTATTGCCAAATATTTCATTGTATGGATCTGTTTTGTTCATCTAGTTATCAGTTGGTGGACGTTTGGTGTTGTTTCTACTTTTTAGCTATTACAAATAATGCTGCTATGAACATTTGTGTAAAAGTCTATATGTGGACATATCTCTTAAGTATATAGGAGTGGAACTGCTAAGTCGTGTGGTAACTCTGTCGAACTTTTGAGGAACTGTCAAACTCTTTTTCTGAAGCAGCTGTATCATTTTATATTCCCAGTAACAACATATGAAGGTTTTAATAGTTCTGTATGCTTGCTAACACTTC... |
Task1_train_23953 | This mutation occurs in NF1 (neurofibromin 1) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Cafe au lait spots, multiple | AATCACTATTTTCTTCCTTTTTATTGCCAAATATTTCATTGTATGGATCTGTTTTGTTCATCTAGTTATCAGTTGGTGGACGTTTGGTGTTGTTTCTACTTTTTAGCTATTACAAATAATGCTGCTATGAACATTTGTGTAAAAGTCTATATGTGGACATATCTCTTAAGTATATAGGAGTGGAACTGCTAAGTCGTGTGGTAACTCTGTCGAACTTTTGAGGAACTGTCAAACTCTTTTTCTGAAGCAGCTGTATCATTTTATATTCCCAGTAACAACATATGAAGGTTTTAATAGTTCTGTATGCTTGCTAACACTTC... | AATCACTATTTTCTTCCTTTTTATTGCCAAATATTTCATTGTATGGATCTGTTTTGTTCATCTAGTTATCAGTTGGTGGACGTTTGGTGTTGTTTCTACTTTTTAGCTATTACAAATAATGCTGCTATGAACATTTGTGTAAAAGTCTATATGTGGACATATCTCTTAAGTATATAGGAGTGGAACTGCTAAGTCGTGTGGTAACTCTGTCGAACTTTTGAGGAACTGTCAAACTCTTTTTCTGAAGCAGCTGTATCATTTTATATTCCCAGTAACAACATATGAAGGTTTTAATAGTTCTGTATGCTTGCTAACACTTC... |
Task1_train_23954 | A change on Chromosome 17 affects gene NF1 (neurofibromin 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Neurofibromatosis, type 1 | AATCACTATTTTCTTCCTTTTTATTGCCAAATATTTCATTGTATGGATCTGTTTTGTTCATCTAGTTATCAGTTGGTGGACGTTTGGTGTTGTTTCTACTTTTTAGCTATTACAAATAATGCTGCTATGAACATTTGTGTAAAAGTCTATATGTGGACATATCTCTTAAGTATATAGGAGTGGAACTGCTAAGTCGTGTGGTAACTCTGTCGAACTTTTGAGGAACTGTCAAACTCTTTTTCTGAAGCAGCTGTATCATTTTATATTCCCAGTAACAACATATGAAGGTTTTAATAGTTCTGTATGCTTGCTAACACTTC... | AATCACTATTTTCTTCCTTTTTATTGCCAAATATTTCATTGTATGGATCTGTTTTGTTCATCTAGTTATCAGTTGGTGGACGTTTGGTGTTGTTTCTACTTTTTAGCTATTACAAATAATGCTGCTATGAACATTTGTGTAAAAGTCTATATGTGGACATATCTCTTAAGTATATAGGAGTGGAACTGCTAAGTCGTGTGGTAACTCTGTCGAACTTTTGAGGAACTGTCAAACTCTTTTTCTGAAGCAGCTGTATCATTTTATATTCCCAGTAACAACATATGAAGGTTTTAATAGTTCTGTATGCTTGCTAACACTTC... |
Task1_train_23955 | A variant has been detected on Chromosome 17 in NF1 (neurofibromin 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hereditary cancer-predisposing syndrome | AATCACTATTTTCTTCCTTTTTATTGCCAAATATTTCATTGTATGGATCTGTTTTGTTCATCTAGTTATCAGTTGGTGGACGTTTGGTGTTGTTTCTACTTTTTAGCTATTACAAATAATGCTGCTATGAACATTTGTGTAAAAGTCTATATGTGGACATATCTCTTAAGTATATAGGAGTGGAACTGCTAAGTCGTGTGGTAACTCTGTCGAACTTTTGAGGAACTGTCAAACTCTTTTTCTGAAGCAGCTGTATCATTTTATATTCCCAGTAACAACATATGAAGGTTTTAATAGTTCTGTATGCTTGCTAACACTTC... | AATCACTATTTTCTTCCTTTTTATTGCCAAATATTTCATTGTATGGATCTGTTTTGTTCATCTAGTTATCAGTTGGTGGACGTTTGGTGTTGTTTCTACTTTTTAGCTATTACAAATAATGCTGCTATGAACATTTGTGTAAAAGTCTATATGTGGACATATCTCTTAAGTATATAGGAGTGGAACTGCTAAGTCGTGTGGTAACTCTGTCGAACTTTTGAGGAACTGTCAAACTCTTTTTCTGAAGCAGCTGTATCATTTTATATTCCCAGTAACAACATATGAAGGTTTTAATAGTTCTGTATGCTTGCTAACACTTC... |
Task1_train_23956 | A sequence alteration has been identified in NF1 (neurofibromin 1) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Juvenile myelomonocytic leukemia | AATCACTATTTTCTTCCTTTTTATTGCCAAATATTTCATTGTATGGATCTGTTTTGTTCATCTAGTTATCAGTTGGTGGACGTTTGGTGTTGTTTCTACTTTTTAGCTATTACAAATAATGCTGCTATGAACATTTGTGTAAAAGTCTATATGTGGACATATCTCTTAAGTATATAGGAGTGGAACTGCTAAGTCGTGTGGTAACTCTGTCGAACTTTTGAGGAACTGTCAAACTCTTTTTCTGAAGCAGCTGTATCATTTTATATTCCCAGTAACAACATATGAAGGTTTTAATAGTTCTGTATGCTTGCTAACACTTC... | AATCACTATTTTCTTCCTTTTTATTGCCAAATATTTCATTGTATGGATCTGTTTTGTTCATCTAGTTATCAGTTGGTGGACGTTTGGTGTTGTTTCTACTTTTTAGCTATTACAAATAATGCTGCTATGAACATTTGTGTAAAAGTCTATATGTGGACATATCTCTTAAGTATATAGGAGTGGAACTGCTAAGTCGTGTGGTAACTCTGTCGAACTTTTGAGGAACTGTCAAACTCTTTTTCTGAAGCAGCTGTATCATTTTATATTCCCAGTAACAACATATGAAGGTTTTAATAGTTCTGTATGCTTGCTAACACTTC... |
Task1_train_23957 | The following genetic variant occurs in NF1 (neurofibromin 1) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not specified | GCTTGCAGACCCCCACTGTGGAGCACTGGGTTTATAGGCAGTCTCTGCTGTGCATGTGGTTTATTGTTTCTTCTTATGTCTACTACAAGGATGAGATACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATTCATTATGGGAGAATGCCATTCTTATGTCTGGTTATATCTGCATTAGGTTAT... | GCTTGCAGACCCCCACTGTGGAGCACTGGGTTTATAGGCAGTCTCTGCTGTGCATGTGGTTTATTGTTTCTTCTTATGTCTACTACAAGGATGAGATACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATTCATTATGGGAGAATGCCATTCTTATGTCTGGTTATATCTGCATTAGGTTAT... |
Task1_train_23958 | The gene NF1 (neurofibromin 1) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; NF1-related disorder | GCTTGCAGACCCCCACTGTGGAGCACTGGGTTTATAGGCAGTCTCTGCTGTGCATGTGGTTTATTGTTTCTTCTTATGTCTACTACAAGGATGAGATACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATTCATTATGGGAGAATGCCATTCTTATGTCTGGTTATATCTGCATTAGGTTAT... | GCTTGCAGACCCCCACTGTGGAGCACTGGGTTTATAGGCAGTCTCTGCTGTGCATGTGGTTTATTGTTTCTTCTTATGTCTACTACAAGGATGAGATACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATTCATTATGGGAGAATGCCATTCTTATGTCTGGTTATATCTGCATTAGGTTAT... |
Task1_train_23959 | This is a variant in NF1 (neurofibromin 1), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Neurofibromatosis, type 1 | GCTTGCAGACCCCCACTGTGGAGCACTGGGTTTATAGGCAGTCTCTGCTGTGCATGTGGTTTATTGTTTCTTCTTATGTCTACTACAAGGATGAGATACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATTCATTATGGGAGAATGCCATTCTTATGTCTGGTTATATCTGCATTAGGTTAT... | GCTTGCAGACCCCCACTGTGGAGCACTGGGTTTATAGGCAGTCTCTGCTGTGCATGTGGTTTATTGTTTCTTCTTATGTCTACTACAAGGATGAGATACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATTCATTATGGGAGAATGCCATTCTTATGTCTGGTTATATCTGCATTAGGTTAT... |
Task1_train_23960 | This alteration in NF1 (neurofibromin 1) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Tibial pseudarthrosis | GCTTGCAGACCCCCACTGTGGAGCACTGGGTTTATAGGCAGTCTCTGCTGTGCATGTGGTTTATTGTTTCTTCTTATGTCTACTACAAGGATGAGATACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATTCATTATGGGAGAATGCCATTCTTATGTCTGGTTATATCTGCATTAGGTTAT... | GCTTGCAGACCCCCACTGTGGAGCACTGGGTTTATAGGCAGTCTCTGCTGTGCATGTGGTTTATTGTTTCTTCTTATGTCTACTACAAGGATGAGATACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATTCATTATGGGAGAATGCCATTCTTATGTCTGGTTATATCTGCATTAGGTTAT... |
Task1_train_23961 | A mutation found in NF1 (neurofibromin 1) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Hereditary cancer-predisposing syndrome | GCTTGCAGACCCCCACTGTGGAGCACTGGGTTTATAGGCAGTCTCTGCTGTGCATGTGGTTTATTGTTTCTTCTTATGTCTACTACAAGGATGAGATACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATTCATTATGGGAGAATGCCATTCTTATGTCTGGTTATATCTGCATTAGGTTAT... | GCTTGCAGACCCCCACTGTGGAGCACTGGGTTTATAGGCAGTCTCTGCTGTGCATGTGGTTTATTGTTTCTTCTTATGTCTACTACAAGGATGAGATACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATTCATTATGGGAGAATGCCATTCTTATGTCTGGTTATATCTGCATTAGGTTAT... |
Task1_train_23962 | This variant affects gene NF1 (neurofibromin 1) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Neurofibromatosis, type 1 | GCTTGCAGACCCCCACTGTGGAGCACTGGGTTTATAGGCAGTCTCTGCTGTGCATGTGGTTTATTGTTTCTTCTTATGTCTACTACAAGGATGAGATACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATTCATTATGGGAGAATGCCATTCTTATGTCTGGTTATATCTGCATTAGGTTAT... | GCTTGCAGACCCCCACTGTGGAGCACTGGGTTTATAGGCAGTCTCTGCTGTGCATGTGGTTTATTGTTTCTTCTTATGTCTACTACAAGGATGAGATACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATTCATTATGGGAGAATGCCATTCTTATGTCTGGTTATATCTGCATTAGGTTAT... |
Task1_train_23963 | The variant affects gene NF1 (neurofibromin 1), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Neurofibromatosis, type 1 | TCCTCTATGGTCAGCTTCTTCTGTACTTTTTCTGTATCATTTTATGTGCTCTGTTTGTTTTCTGAATGAAATTTGGTAAATTTCATCTAGGTAATATAGTGTAATAGTGAAAAACTGCTTAGAATCTAGTTCTATTACTGCTCTTTGTGGAACTTTGGGCAAGTTCTTAACATCCTTGTTCCTCAGTTCCTCAACTTTAAAATGGGGACAGTAATAGTTCCTGCCCCAGAGTTGTTAAAGAGGGTTAAATAAAAGGATGTGTAAATAGCACTTGACACTTACAAGCTATATCTGATAATTATAATTATTATAAACCTCCA... | TCCTCTATGGTCAGCTTCTTCTGTACTTTTTCTGTATCATTTTATGTGCTCTGTTTGTTTTCTGAATGAAATTTGGTAAATTTCATCTAGGTAATATAGTGTAATAGTGAAAAACTGCTTAGAATCTAGTTCTATTACTGCTCTTTGTGGAACTTTGGGCAAGTTCTTAACATCCTTGTTCCTCAGTTCCTCAACTTTAAAATGGGGACAGTAATAGTTCCTGCCCCAGAGTTGTTAAAGAGGGTTAAATAAAAGGATGTGTAAATAGCACTTGACACTTACAAGCTATATCTGATAATTATAATTATTATAAACCTCCA... |
Task1_train_23964 | This variant affects the gene NF1 (neurofibromin 1) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hereditary cancer-predisposing syndrome | TCCTCTATGGTCAGCTTCTTCTGTACTTTTTCTGTATCATTTTATGTGCTCTGTTTGTTTTCTGAATGAAATTTGGTAAATTTCATCTAGGTAATATAGTGTAATAGTGAAAAACTGCTTAGAATCTAGTTCTATTACTGCTCTTTGTGGAACTTTGGGCAAGTTCTTAACATCCTTGTTCCTCAGTTCCTCAACTTTAAAATGGGGACAGTAATAGTTCCTGCCCCAGAGTTGTTAAAGAGGGTTAAATAAAAGGATGTGTAAATAGCACTTGACACTTACAAGCTATATCTGATAATTATAATTATTATAAACCTCCA... | TCCTCTATGGTCAGCTTCTTCTGTACTTTTTCTGTATCATTTTATGTGCTCTGTTTGTTTTCTGAATGAAATTTGGTAAATTTCATCTAGGTAATATAGTGTAATAGTGAAAAACTGCTTAGAATCTAGTTCTATTACTGCTCTTTGTGGAACTTTGGGCAAGTTCTTAACATCCTTGTTCCTCAGTTCCTCAACTTTAAAATGGGGACAGTAATAGTTCCTGCCCCAGAGTTGTTAAAGAGGGTTAAATAAAAGGATGTGTAAATAGCACTTGACACTTACAAGCTATATCTGATAATTATAATTATTATAAACCTCCA... |
Task1_train_23965 | A mutation found in NF1 (neurofibromin 1) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Cardiovascular phenotype | TCCTCTATGGTCAGCTTCTTCTGTACTTTTTCTGTATCATTTTATGTGCTCTGTTTGTTTTCTGAATGAAATTTGGTAAATTTCATCTAGGTAATATAGTGTAATAGTGAAAAACTGCTTAGAATCTAGTTCTATTACTGCTCTTTGTGGAACTTTGGGCAAGTTCTTAACATCCTTGTTCCTCAGTTCCTCAACTTTAAAATGGGGACAGTAATAGTTCCTGCCCCAGAGTTGTTAAAGAGGGTTAAATAAAAGGATGTGTAAATAGCACTTGACACTTACAAGCTATATCTGATAATTATAATTATTATAAACCTCCA... | TCCTCTATGGTCAGCTTCTTCTGTACTTTTTCTGTATCATTTTATGTGCTCTGTTTGTTTTCTGAATGAAATTTGGTAAATTTCATCTAGGTAATATAGTGTAATAGTGAAAAACTGCTTAGAATCTAGTTCTATTACTGCTCTTTGTGGAACTTTGGGCAAGTTCTTAACATCCTTGTTCCTCAGTTCCTCAACTTTAAAATGGGGACAGTAATAGTTCCTGCCCCAGAGTTGTTAAAGAGGGTTAAATAAAAGGATGTGTAAATAGCACTTGACACTTACAAGCTATATCTGATAATTATAATTATTATAAACCTCCA... |
Task1_train_23966 | Here’s a variant in NF1 (neurofibromin 1) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Neurofibromatosis, type 1 | CCTCTATGGTCAGCTTCTTCTGTACTTTTTCTGTATCATTTTATGTGCTCTGTTTGTTTTCTGAATGAAATTTGGTAAATTTCATCTAGGTAATATAGTGTAATAGTGAAAAACTGCTTAGAATCTAGTTCTATTACTGCTCTTTGTGGAACTTTGGGCAAGTTCTTAACATCCTTGTTCCTCAGTTCCTCAACTTTAAAATGGGGACAGTAATAGTTCCTGCCCCAGAGTTGTTAAAGAGGGTTAAATAAAAGGATGTGTAAATAGCACTTGACACTTACAAGCTATATCTGATAATTATAATTATTATAAACCTCCAC... | CCTCTATGGTCAGCTTCTTCTGTACTTTTTCTGTATCATTTTATGTGCTCTGTTTGTTTTCTGAATGAAATTTGGTAAATTTCATCTAGGTAATATAGTGTAATAGTGAAAAACTGCTTAGAATCTAGTTCTATTACTGCTCTTTGTGGAACTTTGGGCAAGTTCTTAACATCCTTGTTCCTCAGTTCCTCAACTTTAAAATGGGGACAGTAATAGTTCCTGCCCCAGAGTTGTTAAAGAGGGTTAAATAAAAGGATGTGTAAATAGCACTTGACACTTACAAGCTATATCTGATAATTATAATTATTATAAACCTCCAC... |
Task1_train_23967 | Here is a variant affecting NF1 (neurofibromin 1) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Neurofibromatosis, type 1 | CCTCTATGGTCAGCTTCTTCTGTACTTTTTCTGTATCATTTTATGTGCTCTGTTTGTTTTCTGAATGAAATTTGGTAAATTTCATCTAGGTAATATAGTGTAATAGTGAAAAACTGCTTAGAATCTAGTTCTATTACTGCTCTTTGTGGAACTTTGGGCAAGTTCTTAACATCCTTGTTCCTCAGTTCCTCAACTTTAAAATGGGGACAGTAATAGTTCCTGCCCCAGAGTTGTTAAAGAGGGTTAAATAAAAGGATGTGTAAATAGCACTTGACACTTACAAGCTATATCTGATAATTATAATTATTATAAACCTCCAC... | CCTCTATGGTCAGCTTCTTCTGTACTTTTTCTGTATCATTTTATGTGCTCTGTTTGTTTTCTGAATGAAATTTGGTAAATTTCATCTAGGTAATATAGTGTAATAGTGAAAAACTGCTTAGAATCTAGTTCTATTACTGCTCTTTGTGGAACTTTGGGCAAGTTCTTAACATCCTTGTTCCTCAGTTCCTCAACTTTAAAATGGGGACAGTAATAGTTCCTGCCCCAGAGTTGTTAAAGAGGGTTAAATAAAAGGATGTGTAAATAGCACTTGACACTTACAAGCTATATCTGATAATTATAATTATTATAAACCTCCAC... |
Task1_train_23968 | This sequence change occurs on Chromosome 17, altering NF1 (neurofibromin 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Neurofibromatosis, type 1 | TTAGTGAAAGGAAGTTTTTGGCTTTATCATTTGAAGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAA... | TTAGTGAAAGGAAGTTTTTGGCTTTATCATTTGAAGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAA... |
Task1_train_23969 | A sequence alteration has been identified in NF1 (neurofibromin 1) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Neurofibromatosis, type 1 | TTTATCATTTGAAGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTAT... | TTTATCATTTGAAGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTAT... |
Task1_train_23970 | This genomic variant is located on Chromosome 17, within the NF1 (neurofibromin 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Neurofibromatosis, type 1 | TTTATCATTTGAAGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTAT... | TTTATCATTTGAAGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTAT... |
Task1_train_23971 | A mutation on Chromosome 17 affecting NF1 (neurofibromin 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Neurofibromatosis, type 1 | TATCATTTGAAGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAA... | TATCATTTGAAGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAA... |
Task1_train_23972 | Gene NF1 (neurofibromin 1), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Neurofibromatosis, type 1 | ATCATTTGAAGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAAT... | ATCATTTGAAGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAAT... |
Task1_train_23973 | The gene NF1 (neurofibromin 1), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Neurofibromatosis, type 1 | CATTTGAAGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATAT... | CATTTGAAGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATAT... |
Task1_train_23974 | This alteration occurs within gene NF1 (neurofibromin 1) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Neurofibromatosis, type 1 | ATTTGAAGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATC... | ATTTGAAGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATC... |
Task1_train_23975 | A genomic change on Chromosome 17 affects NF1 (neurofibromin 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Neurofibromatosis, type 1 | TGAAGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGA... | TGAAGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGA... |
Task1_train_23976 | The gene NF1 (neurofibromin 1), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hereditary cancer-predisposing syndrome | TGAAGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGA... | TGAAGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGA... |
Task1_train_23977 | Given a variant located on Chromosome 17 and affecting NF1 (neurofibromin 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Cardiovascular phenotype | TGAAGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGA... | TGAAGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGA... |
Task1_train_23978 | This variant affects gene NF1 (neurofibromin 1) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Neurofibromatosis, type 1 | AAGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGT... | AAGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGT... |
Task1_train_23979 | Gene NF1 (neurofibromin 1) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Neurofibromatosis, type 1 | AGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTA... | AGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTA... |
Task1_train_23980 | The following genetic variant occurs in NF1 (neurofibromin 1) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Neurofibromatosis-Noonan syndrome | AGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTA... | AGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTA... |
Task1_train_23981 | A genomic change on Chromosome 17 affects NF1 (neurofibromin 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Juvenile myelomonocytic leukemia | AGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTA... | AGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTA... |
Task1_train_23982 | Given this context: Chromosome 17, gene NF1 (neurofibromin 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Neurofibromatosis, familial spinal | AGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTA... | AGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTA... |
Task1_train_23983 | The variant affects gene NF1 (neurofibromin 1), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Neurofibromatosis, type 1 | AGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTA... | AGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTA... |
Task1_train_23984 | A genomic change on Chromosome 17 affects NF1 (neurofibromin 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Café-au-lait macules with pulmonary stenosis | AGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTA... | AGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTA... |
Task1_train_23985 | The variant affects gene NF1 (neurofibromin 1), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Neurofibromatosis, type 1 | TGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTG... | TGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTG... |
Task1_train_23986 | This variant impacts the gene NF1 (neurofibromin 1) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Hereditary cancer-predisposing syndrome | TGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTG... | TGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTG... |
Task1_train_23987 | Mutation context: Chromosome 17, Gene NF1 (neurofibromin 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Cardiovascular phenotype | TGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTG... | TGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTG... |
Task1_train_23988 | A variant was discovered on Chromosome 17, affecting NF1 (neurofibromin 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Neurofibromatosis, type 1 | CACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTGATAATTGCCTTCATTTTAGGCTTGGGAAGATACACATGCAAAATGGGAACAAGCAACAAAGCTA... | CACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTGATAATTGCCTTCATTTTAGGCTTGGGAAGATACACATGCAAAATGGGAACAAGCAACAAAGCTA... |
Task1_train_23989 | A mutation in NF1 (neurofibromin 1), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hereditary cancer-predisposing syndrome | CACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTGATAATTGCCTTCATTTTAGGCTTGGGAAGATACACATGCAAAATGGGAACAAGCAACAAAGCTA... | CACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTGATAATTGCCTTCATTTTAGGCTTGGGAAGATACACATGCAAAATGGGAACAAGCAACAAAGCTA... |
Task1_train_23990 | A mutation found in NF1 (neurofibromin 1) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Cardiovascular phenotype | CACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTGATAATTGCCTTCATTTTAGGCTTGGGAAGATACACATGCAAAATGGGAACAAGCAACAAAGCTA... | CACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTGATAATTGCCTTCATTTTAGGCTTGGGAAGATACACATGCAAAATGGGAACAAGCAACAAAGCTA... |
Task1_train_23991 | A sequence alteration has been identified in NF1 (neurofibromin 1) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Neurofibromatosis, type 1 | GCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTGATAATTGCCTTCATTTTAGGCTTGGGAAGATACACATGCAAAATGGGAACAAGCAACAAAGCTAATCCTTAACTAT... | GCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTGATAATTGCCTTCATTTTAGGCTTGGGAAGATACACATGCAAAATGGGAACAAGCAACAAAGCTAATCCTTAACTAT... |
Task1_train_23992 | This alteration in NF1 (neurofibromin 1) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Neurofibromatosis, type 1 | GCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTGATAATTGCCTTCATTTTAGGCTTGGGAAGATACACATGCAAAATGGGAACAAGCAACAAAGCTAATCCTTAACTATCCAAAAGCCAAAATGGA... | GCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTGATAATTGCCTTCATTTTAGGCTTGGGAAGATACACATGCAAAATGGGAACAAGCAACAAAGCTAATCCTTAACTATCCAAAAGCCAAAATGGA... |
Task1_train_23993 | Given this variant in gene NF1 (neurofibromin 1) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Neurofibromatosis, type 1 | GTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTGATAATTGCCTTCATTTTAGGCTTGGGAAGATACACATGCAAAATGGGAACAAGCAACAAAGCTAATCCTTAACTATCCAAAAGCCAAAATGGAAGATGGCCAGGTAAGTCTGTAAAGTTGACTTTTGTCTGTTAACTGATCTGCTAAATATATGTACTTCACTTTGATA... | GTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTGATAATTGCCTTCATTTTAGGCTTGGGAAGATACACATGCAAAATGGGAACAAGCAACAAAGCTAATCCTTAACTATCCAAAAGCCAAAATGGAAGATGGCCAGGTAAGTCTGTAAAGTTGACTTTTGTCTGTTAACTGATCTGCTAAATATATGTACTTCACTTTGATA... |
Task1_train_23994 | Consider a variant on Chromosome 17 in gene NF1 (neurofibromin 1). Determine its clinical classification and disease relevance. | Pathogenic; Neurofibromatosis, type 1 | TAATGATCAGTTAGTGTTTGTGTGTATTTGATTTGTAATGTTCATATTGCTCTCATTATTAGGTGATTTATAAAAACTGGTTGTTCCTCCATGGTGTTTTTGTCATGCTTAATTACAATAGGAAAAAGTTATATTTTTACGAAGCAAATGTGTGTACCTAATACCTTTATTTGGAGGGGACATGTAGCTTTAGAATGAAAGCTTTTGGGGGGATAACTGTTTTATATAATTACATACCATACAGTTCACCCATTTAAAGTGTCCAATTCAGTGACTGTTTTTAATGTATTCACAGAGTTGTGCAACCATCACCACAATCA... | TAATGATCAGTTAGTGTTTGTGTGTATTTGATTTGTAATGTTCATATTGCTCTCATTATTAGGTGATTTATAAAAACTGGTTGTTCCTCCATGGTGTTTTTGTCATGCTTAATTACAATAGGAAAAAGTTATATTTTTACGAAGCAAATGTGTGTACCTAATACCTTTATTTGGAGGGGACATGTAGCTTTAGAATGAAAGCTTTTGGGGGGATAACTGTTTTATATAATTACATACCATACAGTTCACCCATTTAAAGTGTCCAATTCAGTGACTGTTTTTAATGTATTCACAGAGTTGTGCAACCATCACCACAATCA... |
Task1_train_23995 | The gene NF1 (neurofibromin 1), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hereditary cancer-predisposing syndrome | TAATGATCAGTTAGTGTTTGTGTGTATTTGATTTGTAATGTTCATATTGCTCTCATTATTAGGTGATTTATAAAAACTGGTTGTTCCTCCATGGTGTTTTTGTCATGCTTAATTACAATAGGAAAAAGTTATATTTTTACGAAGCAAATGTGTGTACCTAATACCTTTATTTGGAGGGGACATGTAGCTTTAGAATGAAAGCTTTTGGGGGGATAACTGTTTTATATAATTACATACCATACAGTTCACCCATTTAAAGTGTCCAATTCAGTGACTGTTTTTAATGTATTCACAGAGTTGTGCAACCATCACCACAATCA... | TAATGATCAGTTAGTGTTTGTGTGTATTTGATTTGTAATGTTCATATTGCTCTCATTATTAGGTGATTTATAAAAACTGGTTGTTCCTCCATGGTGTTTTTGTCATGCTTAATTACAATAGGAAAAAGTTATATTTTTACGAAGCAAATGTGTGTACCTAATACCTTTATTTGGAGGGGACATGTAGCTTTAGAATGAAAGCTTTTGGGGGGATAACTGTTTTATATAATTACATACCATACAGTTCACCCATTTAAAGTGTCCAATTCAGTGACTGTTTTTAATGTATTCACAGAGTTGTGCAACCATCACCACAATCA... |
Task1_train_23996 | Gene NF1 (neurofibromin 1), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Cardiovascular phenotype | TAATGATCAGTTAGTGTTTGTGTGTATTTGATTTGTAATGTTCATATTGCTCTCATTATTAGGTGATTTATAAAAACTGGTTGTTCCTCCATGGTGTTTTTGTCATGCTTAATTACAATAGGAAAAAGTTATATTTTTACGAAGCAAATGTGTGTACCTAATACCTTTATTTGGAGGGGACATGTAGCTTTAGAATGAAAGCTTTTGGGGGGATAACTGTTTTATATAATTACATACCATACAGTTCACCCATTTAAAGTGTCCAATTCAGTGACTGTTTTTAATGTATTCACAGAGTTGTGCAACCATCACCACAATCA... | TAATGATCAGTTAGTGTTTGTGTGTATTTGATTTGTAATGTTCATATTGCTCTCATTATTAGGTGATTTATAAAAACTGGTTGTTCCTCCATGGTGTTTTTGTCATGCTTAATTACAATAGGAAAAAGTTATATTTTTACGAAGCAAATGTGTGTACCTAATACCTTTATTTGGAGGGGACATGTAGCTTTAGAATGAAAGCTTTTGGGGGGATAACTGTTTTATATAATTACATACCATACAGTTCACCCATTTAAAGTGTCCAATTCAGTGACTGTTTTTAATGTATTCACAGAGTTGTGCAACCATCACCACAATCA... |
Task1_train_23997 | This variant affects gene NF1 (neurofibromin 1) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Neurofibromatosis, type 1 | TGCTCTCATTATTAGGTGATTTATAAAAACTGGTTGTTCCTCCATGGTGTTTTTGTCATGCTTAATTACAATAGGAAAAAGTTATATTTTTACGAAGCAAATGTGTGTACCTAATACCTTTATTTGGAGGGGACATGTAGCTTTAGAATGAAAGCTTTTGGGGGGATAACTGTTTTATATAATTACATACCATACAGTTCACCCATTTAAAGTGTCCAATTCAGTGACTGTTTTTAATGTATTCACAGAGTTGTGCAACCATCACCACAATCAAGTTTTAGAACAATTTCATCAATTGAGAAAAAAACCCCGTACCCTTT... | TGCTCTCATTATTAGGTGATTTATAAAAACTGGTTGTTCCTCCATGGTGTTTTTGTCATGCTTAATTACAATAGGAAAAAGTTATATTTTTACGAAGCAAATGTGTGTACCTAATACCTTTATTTGGAGGGGACATGTAGCTTTAGAATGAAAGCTTTTGGGGGGATAACTGTTTTATATAATTACATACCATACAGTTCACCCATTTAAAGTGTCCAATTCAGTGACTGTTTTTAATGTATTCACAGAGTTGTGCAACCATCACCACAATCAAGTTTTAGAACAATTTCATCAATTGAGAAAAAAACCCCGTACCCTTT... |
Task1_train_23998 | The gene NF1 (neurofibromin 1), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Cardiovascular phenotype | TGCTCTCATTATTAGGTGATTTATAAAAACTGGTTGTTCCTCCATGGTGTTTTTGTCATGCTTAATTACAATAGGAAAAAGTTATATTTTTACGAAGCAAATGTGTGTACCTAATACCTTTATTTGGAGGGGACATGTAGCTTTAGAATGAAAGCTTTTGGGGGGATAACTGTTTTATATAATTACATACCATACAGTTCACCCATTTAAAGTGTCCAATTCAGTGACTGTTTTTAATGTATTCACAGAGTTGTGCAACCATCACCACAATCAAGTTTTAGAACAATTTCATCAATTGAGAAAAAAACCCCGTACCCTTT... | TGCTCTCATTATTAGGTGATTTATAAAAACTGGTTGTTCCTCCATGGTGTTTTTGTCATGCTTAATTACAATAGGAAAAAGTTATATTTTTACGAAGCAAATGTGTGTACCTAATACCTTTATTTGGAGGGGACATGTAGCTTTAGAATGAAAGCTTTTGGGGGGATAACTGTTTTATATAATTACATACCATACAGTTCACCCATTTAAAGTGTCCAATTCAGTGACTGTTTTTAATGTATTCACAGAGTTGTGCAACCATCACCACAATCAAGTTTTAGAACAATTTCATCAATTGAGAAAAAAACCCCGTACCCTTT... |
Task1_train_23999 | A variant on Chromosome 17 in gene NF1 (neurofibromin 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hereditary cancer-predisposing syndrome | TGCTCTCATTATTAGGTGATTTATAAAAACTGGTTGTTCCTCCATGGTGTTTTTGTCATGCTTAATTACAATAGGAAAAAGTTATATTTTTACGAAGCAAATGTGTGTACCTAATACCTTTATTTGGAGGGGACATGTAGCTTTAGAATGAAAGCTTTTGGGGGGATAACTGTTTTATATAATTACATACCATACAGTTCACCCATTTAAAGTGTCCAATTCAGTGACTGTTTTTAATGTATTCACAGAGTTGTGCAACCATCACCACAATCAAGTTTTAGAACAATTTCATCAATTGAGAAAAAAACCCCGTACCCTTT... | TGCTCTCATTATTAGGTGATTTATAAAAACTGGTTGTTCCTCCATGGTGTTTTTGTCATGCTTAATTACAATAGGAAAAAGTTATATTTTTACGAAGCAAATGTGTGTACCTAATACCTTTATTTGGAGGGGACATGTAGCTTTAGAATGAAAGCTTTTGGGGGGATAACTGTTTTATATAATTACATACCATACAGTTCACCCATTTAAAGTGTCCAATTCAGTGACTGTTTTTAATGTATTCACAGAGTTGTGCAACCATCACCACAATCAAGTTTTAGAACAATTTCATCAATTGAGAAAAAAACCCCGTACCCTTT... |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.