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_19200 | Mutation context: Chromosome 13, Gene RB1 (RB transcriptional corepressor 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Retinoblastoma | TCTGCTTTGTTGTGTGGCATTAATGAGGATAATATACAAAAATATATTGGAAAACTGGAGTCCACTGTACACATTTATTTCAGTGTAGTGAGGTTATATTTTGATGCCATCAGTGTTTTAAACATTGATATTTAATGGTTCTTTTTGATTCTACAGCCATGCACCACTTAACAGGGATATGTTCTGACAAATGCATCATTAGGCAATTTTGTTGTGTGAACCTGGTAGAGTGTGTCTGTACAAACCTAGATGGTATAGCCGATTGTACATCTAAGCTGTATGATATAGCCTATTCATTCCTAGGCTACAGGCCTCTACAG... | TCTGCTTTGTTGTGTGGCATTAATGAGGATAATATACAAAAATATATTGGAAAACTGGAGTCCACTGTACACATTTATTTCAGTGTAGTGAGGTTATATTTTGATGCCATCAGTGTTTTAAACATTGATATTTAATGGTTCTTTTTGATTCTACAGCCATGCACCACTTAACAGGGATATGTTCTGACAAATGCATCATTAGGCAATTTTGTTGTGTGAACCTGGTAGAGTGTGTCTGTACAAACCTAGATGGTATAGCCGATTGTACATCTAAGCTGTATGATATAGCCTATTCATTCCTAGGCTACAGGCCTCTACAG... |
Task1_train_19201 | The gene RB1 (RB transcriptional corepressor 1), on Chromosome 13, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Retinoblastoma | AATTGTCAGCTGGGTATAGTGGTACATGCCTATAATCCCAGCCTCTTGGGAGGCCAAAGCAGGAGGATCTCTTGAGCCCAGGAGTGTGAAGGCCAGCCTGGGCAAAACAGTGAGACTCCATCTCAAAAAAAAAAAAAATTTCATAATTGTGATTTTCTAAAATAGCAGGCTCTTATTTTTCTTTTTGTTTGTTTGTAGCGATACAAACTTGGAGTTCGCTTGTATTACCGAGTAATGGAATCCATGCTTAAATCAGTAAGTTAAAAACAATATAAAAAAATTTCAGCCGGGCGCGGTGGCTCACGCCTGCAATCCCAGCA... | AATTGTCAGCTGGGTATAGTGGTACATGCCTATAATCCCAGCCTCTTGGGAGGCCAAAGCAGGAGGATCTCTTGAGCCCAGGAGTGTGAAGGCCAGCCTGGGCAAAACAGTGAGACTCCATCTCAAAAAAAAAAAAAATTTCATAATTGTGATTTTCTAAAATAGCAGGCTCTTATTTTTCTTTTTGTTTGTTTGTAGCGATACAAACTTGGAGTTCGCTTGTATTACCGAGTAATGGAATCCATGCTTAAATCAGTAAGTTAAAAACAATATAAAAAAATTTCAGCCGGGCGCGGTGGCTCACGCCTGCAATCCCAGCA... |
Task1_train_19202 | A sequence alteration has been identified in RB1 (RB transcriptional corepressor 1) on Chromosome 13. Is it disease-inducing or harmless? | Pathogenic; Retinoblastoma | AATTGTCAGCTGGGTATAGTGGTACATGCCTATAATCCCAGCCTCTTGGGAGGCCAAAGCAGGAGGATCTCTTGAGCCCAGGAGTGTGAAGGCCAGCCTGGGCAAAACAGTGAGACTCCATCTCAAAAAAAAAAAAAATTTCATAATTGTGATTTTCTAAAATAGCAGGCTCTTATTTTTCTTTTTGTTTGTTTGTAGCGATACAAACTTGGAGTTCGCTTGTATTACCGAGTAATGGAATCCATGCTTAAATCAGTAAGTTAAAAACAATATAAAAAAATTTCAGCCGGGCGCGGTGGCTCACGCCTGCAATCCCAGCA... | AATTGTCAGCTGGGTATAGTGGTACATGCCTATAATCCCAGCCTCTTGGGAGGCCAAAGCAGGAGGATCTCTTGAGCCCAGGAGTGTGAAGGCCAGCCTGGGCAAAACAGTGAGACTCCATCTCAAAAAAAAAAAAAATTTCATAATTGTGATTTTCTAAAATAGCAGGCTCTTATTTTTCTTTTTGTTTGTTTGTAGCGATACAAACTTGGAGTTCGCTTGTATTACCGAGTAATGGAATCCATGCTTAAATCAGTAAGTTAAAAACAATATAAAAAAATTTCAGCCGGGCGCGGTGGCTCACGCCTGCAATCCCAGCA... |
Task1_train_19203 | The gene RB1 (RB transcriptional corepressor 1) on Chromosome 13 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Retinoblastoma | ATTGTCAGCTGGGTATAGTGGTACATGCCTATAATCCCAGCCTCTTGGGAGGCCAAAGCAGGAGGATCTCTTGAGCCCAGGAGTGTGAAGGCCAGCCTGGGCAAAACAGTGAGACTCCATCTCAAAAAAAAAAAAAATTTCATAATTGTGATTTTCTAAAATAGCAGGCTCTTATTTTTCTTTTTGTTTGTTTGTAGCGATACAAACTTGGAGTTCGCTTGTATTACCGAGTAATGGAATCCATGCTTAAATCAGTAAGTTAAAAACAATATAAAAAAATTTCAGCCGGGCGCGGTGGCTCACGCCTGCAATCCCAGCAC... | ATTGTCAGCTGGGTATAGTGGTACATGCCTATAATCCCAGCCTCTTGGGAGGCCAAAGCAGGAGGATCTCTTGAGCCCAGGAGTGTGAAGGCCAGCCTGGGCAAAACAGTGAGACTCCATCTCAAAAAAAAAAAAAATTTCATAATTGTGATTTTCTAAAATAGCAGGCTCTTATTTTTCTTTTTGTTTGTTTGTAGCGATACAAACTTGGAGTTCGCTTGTATTACCGAGTAATGGAATCCATGCTTAAATCAGTAAGTTAAAAACAATATAAAAAAATTTCAGCCGGGCGCGGTGGCTCACGCCTGCAATCCCAGCAC... |
Task1_train_19204 | The variant affects gene LPAR6, RB1 (lysophosphatidic acid receptor 6| RB transcriptional corepressor 1), which is on Chromosome 13. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Hypotrichosis 8 | CCATATAAGCCTAGGTGTGTAATAGTGTATACCTTCTAGAGTTGTGTAAGTACACACTGTGATGTTTGCACGACATAATTACCTAAGCAAGCATCATAAGCAACACGTGACAGTATATTACTTTCTAAATGCCAAGTACTATATTTCACTATCTCTGATGTTTCTCCGACCTAACATACTTAAAACATAAGTTCTTGACTGTGATGTAAGTGCACCTTTAAAATGTACCTCTGGTAGTATTTTATTTTTTTGCTAAGTAAAAACTTAGCAAAATGACATTTTATTAGTTTTCTCCCTCTCAATTTTTGTGGCATATATCA... | CCATATAAGCCTAGGTGTGTAATAGTGTATACCTTCTAGAGTTGTGTAAGTACACACTGTGATGTTTGCACGACATAATTACCTAAGCAAGCATCATAAGCAACACGTGACAGTATATTACTTTCTAAATGCCAAGTACTATATTTCACTATCTCTGATGTTTCTCCGACCTAACATACTTAAAACATAAGTTCTTGACTGTGATGTAAGTGCACCTTTAAAATGTACCTCTGGTAGTATTTTATTTTTTTGCTAAGTAAAAACTTAGCAAAATGACATTTTATTAGTTTTCTCCCTCTCAATTTTTGTGGCATATATCA... |
Task1_train_19205 | A genetic alteration is present in RB1 (RB transcriptional corepressor 1) on Chromosome 13. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Retinoblastoma | TGGAGTTCATTCATGATTTGGCTCTTTGCTTGCTTATTGTTGGTGTATAGGAATGCTAGCGATTATTGCACATTGATTTTGTATCTGAGAGTTTGCTGAAGTTGCTTATCAGCTTAAGAATGTTTTGGGTTAAGATGATAATTTGACCTCCTCTCTTCCTATATGAATATCTTTGTTTCTTTCTCTTGCCTGATTGCCCTGGCCAGATCTTCCAATACTATGTTGAATAGGATTGGTGAGAGAGAGTATCCTTGTCTTGTGCTGGTTTTCAAGGGGAATGCTTCCAGCTTTTCCCCATTCAGTATTATGTTGGCTGTGGA... | TGGAGTTCATTCATGATTTGGCTCTTTGCTTGCTTATTGTTGGTGTATAGGAATGCTAGCGATTATTGCACATTGATTTTGTATCTGAGAGTTTGCTGAAGTTGCTTATCAGCTTAAGAATGTTTTGGGTTAAGATGATAATTTGACCTCCTCTCTTCCTATATGAATATCTTTGTTTCTTTCTCTTGCCTGATTGCCCTGGCCAGATCTTCCAATACTATGTTGAATAGGATTGGTGAGAGAGAGTATCCTTGTCTTGTGCTGGTTTTCAAGGGGAATGCTTCCAGCTTTTCCCCATTCAGTATTATGTTGGCTGTGGA... |
Task1_train_19206 | An alteration has been detected in RB1 (RB transcriptional corepressor 1) on Chromosome 13. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Retinoblastoma | TTGTTTCTGTTTAATTCTGTGTAGGAACTGACATTACAGTATTCTGTATTAGTGCAGGGGCCATTTTCCAGAGATGTCATTTTCATGCTAACTTGTACCCAAAGTGTTTCTGGCATATGGAGACCCTGCCTTCATGTATACATTTGTTTCCTAAGTAATGCATTGTATAAATAAGTTAAGCCTTGTTTTTTTAAAATTCAAGAAGCAGTCATCTGTAAACTGCCAGGAAGTGGTGTAGGCACTGGGAATACAGAAGTAAGATGGCCTGGGTCCTTCCCCTCATAGAGCTTACATTCTGGAGGAGGAACACAGGCAATGAA... | TTGTTTCTGTTTAATTCTGTGTAGGAACTGACATTACAGTATTCTGTATTAGTGCAGGGGCCATTTTCCAGAGATGTCATTTTCATGCTAACTTGTACCCAAAGTGTTTCTGGCATATGGAGACCCTGCCTTCATGTATACATTTGTTTCCTAAGTAATGCATTGTATAAATAAGTTAAGCCTTGTTTTTTTAAAATTCAAGAAGCAGTCATCTGTAAACTGCCAGGAAGTGGTGTAGGCACTGGGAATACAGAAGTAAGATGGCCTGGGTCCTTCCCCTCATAGAGCTTACATTCTGGAGGAGGAACACAGGCAATGAA... |
Task1_train_19207 | A genomic change on Chromosome 13 affects RB1 (RB transcriptional corepressor 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Retinoblastoma | TTACAGTATTCTGTATTAGTGCAGGGGCCATTTTCCAGAGATGTCATTTTCATGCTAACTTGTACCCAAAGTGTTTCTGGCATATGGAGACCCTGCCTTCATGTATACATTTGTTTCCTAAGTAATGCATTGTATAAATAAGTTAAGCCTTGTTTTTTTAAAATTCAAGAAGCAGTCATCTGTAAACTGCCAGGAAGTGGTGTAGGCACTGGGAATACAGAAGTAAGATGGCCTGGGTCCTTCCCCTCATAGAGCTTACATTCTGGAGGAGGAACACAGGCAATGAACAAGTAAACCAAGATGTAAGATGATTTTAGAGT... | TTACAGTATTCTGTATTAGTGCAGGGGCCATTTTCCAGAGATGTCATTTTCATGCTAACTTGTACCCAAAGTGTTTCTGGCATATGGAGACCCTGCCTTCATGTATACATTTGTTTCCTAAGTAATGCATTGTATAAATAAGTTAAGCCTTGTTTTTTTAAAATTCAAGAAGCAGTCATCTGTAAACTGCCAGGAAGTGGTGTAGGCACTGGGAATACAGAAGTAAGATGGCCTGGGTCCTTCCCCTCATAGAGCTTACATTCTGGAGGAGGAACACAGGCAATGAACAAGTAAACCAAGATGTAAGATGATTTTAGAGT... |
Task1_train_19208 | This sequence variant lies in RB1 (RB transcriptional corepressor 1) on Chromosome 13. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Retinoblastoma | TTACAGTATTCTGTATTAGTGCAGGGGCCATTTTCCAGAGATGTCATTTTCATGCTAACTTGTACCCAAAGTGTTTCTGGCATATGGAGACCCTGCCTTCATGTATACATTTGTTTCCTAAGTAATGCATTGTATAAATAAGTTAAGCCTTGTTTTTTTAAAATTCAAGAAGCAGTCATCTGTAAACTGCCAGGAAGTGGTGTAGGCACTGGGAATACAGAAGTAAGATGGCCTGGGTCCTTCCCCTCATAGAGCTTACATTCTGGAGGAGGAACACAGGCAATGAACAAGTAAACCAAGATGTAAGATGATTTTAGAGT... | TTACAGTATTCTGTATTAGTGCAGGGGCCATTTTCCAGAGATGTCATTTTCATGCTAACTTGTACCCAAAGTGTTTCTGGCATATGGAGACCCTGCCTTCATGTATACATTTGTTTCCTAAGTAATGCATTGTATAAATAAGTTAAGCCTTGTTTTTTTAAAATTCAAGAAGCAGTCATCTGTAAACTGCCAGGAAGTGGTGTAGGCACTGGGAATACAGAAGTAAGATGGCCTGGGTCCTTCCCCTCATAGAGCTTACATTCTGGAGGAGGAACACAGGCAATGAACAAGTAAACCAAGATGTAAGATGATTTTAGAGT... |
Task1_train_19209 | The gene RB1 (RB transcriptional corepressor 1) is located on Chromosome 13, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Hereditary cancer-predisposing syndrome | TTACAGTATTCTGTATTAGTGCAGGGGCCATTTTCCAGAGATGTCATTTTCATGCTAACTTGTACCCAAAGTGTTTCTGGCATATGGAGACCCTGCCTTCATGTATACATTTGTTTCCTAAGTAATGCATTGTATAAATAAGTTAAGCCTTGTTTTTTTAAAATTCAAGAAGCAGTCATCTGTAAACTGCCAGGAAGTGGTGTAGGCACTGGGAATACAGAAGTAAGATGGCCTGGGTCCTTCCCCTCATAGAGCTTACATTCTGGAGGAGGAACACAGGCAATGAACAAGTAAACCAAGATGTAAGATGATTTTAGAGT... | TTACAGTATTCTGTATTAGTGCAGGGGCCATTTTCCAGAGATGTCATTTTCATGCTAACTTGTACCCAAAGTGTTTCTGGCATATGGAGACCCTGCCTTCATGTATACATTTGTTTCCTAAGTAATGCATTGTATAAATAAGTTAAGCCTTGTTTTTTTAAAATTCAAGAAGCAGTCATCTGTAAACTGCCAGGAAGTGGTGTAGGCACTGGGAATACAGAAGTAAGATGGCCTGGGTCCTTCCCCTCATAGAGCTTACATTCTGGAGGAGGAACACAGGCAATGAACAAGTAAACCAAGATGTAAGATGATTTTAGAGT... |
Task1_train_19210 | Mutation context: Chromosome 13, Gene RB1 (RB transcriptional corepressor 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Retinoblastoma | GCTGCCCTCAGCCCCCGCCTCGGCTTCCCCCCCGTGCTCGTCAGCGCCCAAAGTCTGGAGAGGGCTGAGGCGGCAGGGGGCTGGCGTGTCAGCGCTGCCTTGAGCGTGCGCACATCTGGCTGGGCTGCAGCAGCACCCAGGCTCAGCCCTGACTTTGCTCCGAGATTGGAGTGGGCGCTGGCAGCAGGGAGAAACCAGGCAGTGGGAGCAGGCACTTCTGAGCCTGCGAGGGCGGTGGCAGTTGGGGGGTGCCTTCCCCGGCCCCCAAGTATACAGAGATGCCTGGGTCCACAGCCACGGTTTGGGTAGCTGCAGCTGCA... | GCTGCCCTCAGCCCCCGCCTCGGCTTCCCCCCCGTGCTCGTCAGCGCCCAAAGTCTGGAGAGGGCTGAGGCGGCAGGGGGCTGGCGTGTCAGCGCTGCCTTGAGCGTGCGCACATCTGGCTGGGCTGCAGCAGCACCCAGGCTCAGCCCTGACTTTGCTCCGAGATTGGAGTGGGCGCTGGCAGCAGGGAGAAACCAGGCAGTGGGAGCAGGCACTTCTGAGCCTGCGAGGGCGGTGGCAGTTGGGGGGTGCCTTCCCCGGCCCCCAAGTATACAGAGATGCCTGGGTCCACAGCCACGGTTTGGGTAGCTGCAGCTGCA... |
Task1_train_19211 | An alteration has been detected in RB1 (RB transcriptional corepressor 1) on Chromosome 13. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Retinoblastoma | GCTGCCCTCAGCCCCCGCCTCGGCTTCCCCCCCGTGCTCGTCAGCGCCCAAAGTCTGGAGAGGGCTGAGGCGGCAGGGGGCTGGCGTGTCAGCGCTGCCTTGAGCGTGCGCACATCTGGCTGGGCTGCAGCAGCACCCAGGCTCAGCCCTGACTTTGCTCCGAGATTGGAGTGGGCGCTGGCAGCAGGGAGAAACCAGGCAGTGGGAGCAGGCACTTCTGAGCCTGCGAGGGCGGTGGCAGTTGGGGGGTGCCTTCCCCGGCCCCCAAGTATACAGAGATGCCTGGGTCCACAGCCACGGTTTGGGTAGCTGCAGCTGCA... | GCTGCCCTCAGCCCCCGCCTCGGCTTCCCCCCCGTGCTCGTCAGCGCCCAAAGTCTGGAGAGGGCTGAGGCGGCAGGGGGCTGGCGTGTCAGCGCTGCCTTGAGCGTGCGCACATCTGGCTGGGCTGCAGCAGCACCCAGGCTCAGCCCTGACTTTGCTCCGAGATTGGAGTGGGCGCTGGCAGCAGGGAGAAACCAGGCAGTGGGAGCAGGCACTTCTGAGCCTGCGAGGGCGGTGGCAGTTGGGGGGTGCCTTCCCCGGCCCCCAAGTATACAGAGATGCCTGGGTCCACAGCCACGGTTTGGGTAGCTGCAGCTGCA... |
Task1_train_19212 | The gene RB1 (RB transcriptional corepressor 1), on Chromosome 13, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Small cell lung carcinoma | GCTGCCCTCAGCCCCCGCCTCGGCTTCCCCCCCGTGCTCGTCAGCGCCCAAAGTCTGGAGAGGGCTGAGGCGGCAGGGGGCTGGCGTGTCAGCGCTGCCTTGAGCGTGCGCACATCTGGCTGGGCTGCAGCAGCACCCAGGCTCAGCCCTGACTTTGCTCCGAGATTGGAGTGGGCGCTGGCAGCAGGGAGAAACCAGGCAGTGGGAGCAGGCACTTCTGAGCCTGCGAGGGCGGTGGCAGTTGGGGGGTGCCTTCCCCGGCCCCCAAGTATACAGAGATGCCTGGGTCCACAGCCACGGTTTGGGTAGCTGCAGCTGCA... | GCTGCCCTCAGCCCCCGCCTCGGCTTCCCCCCCGTGCTCGTCAGCGCCCAAAGTCTGGAGAGGGCTGAGGCGGCAGGGGGCTGGCGTGTCAGCGCTGCCTTGAGCGTGCGCACATCTGGCTGGGCTGCAGCAGCACCCAGGCTCAGCCCTGACTTTGCTCCGAGATTGGAGTGGGCGCTGGCAGCAGGGAGAAACCAGGCAGTGGGAGCAGGCACTTCTGAGCCTGCGAGGGCGGTGGCAGTTGGGGGGTGCCTTCCCCGGCCCCCAAGTATACAGAGATGCCTGGGTCCACAGCCACGGTTTGGGTAGCTGCAGCTGCA... |
Task1_train_19213 | An alteration has been detected in RB1 (RB transcriptional corepressor 1) on Chromosome 13. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Malignant tumor of urinary bladder | GCTGCCCTCAGCCCCCGCCTCGGCTTCCCCCCCGTGCTCGTCAGCGCCCAAAGTCTGGAGAGGGCTGAGGCGGCAGGGGGCTGGCGTGTCAGCGCTGCCTTGAGCGTGCGCACATCTGGCTGGGCTGCAGCAGCACCCAGGCTCAGCCCTGACTTTGCTCCGAGATTGGAGTGGGCGCTGGCAGCAGGGAGAAACCAGGCAGTGGGAGCAGGCACTTCTGAGCCTGCGAGGGCGGTGGCAGTTGGGGGGTGCCTTCCCCGGCCCCCAAGTATACAGAGATGCCTGGGTCCACAGCCACGGTTTGGGTAGCTGCAGCTGCA... | GCTGCCCTCAGCCCCCGCCTCGGCTTCCCCCCCGTGCTCGTCAGCGCCCAAAGTCTGGAGAGGGCTGAGGCGGCAGGGGGCTGGCGTGTCAGCGCTGCCTTGAGCGTGCGCACATCTGGCTGGGCTGCAGCAGCACCCAGGCTCAGCCCTGACTTTGCTCCGAGATTGGAGTGGGCGCTGGCAGCAGGGAGAAACCAGGCAGTGGGAGCAGGCACTTCTGAGCCTGCGAGGGCGGTGGCAGTTGGGGGGTGCCTTCCCCGGCCCCCAAGTATACAGAGATGCCTGGGTCCACAGCCACGGTTTGGGTAGCTGCAGCTGCA... |
Task1_train_19214 | A variant was discovered in gene RB1 (RB transcriptional corepressor 1), Chromosome 13. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Bone osteosarcoma | GCTGCCCTCAGCCCCCGCCTCGGCTTCCCCCCCGTGCTCGTCAGCGCCCAAAGTCTGGAGAGGGCTGAGGCGGCAGGGGGCTGGCGTGTCAGCGCTGCCTTGAGCGTGCGCACATCTGGCTGGGCTGCAGCAGCACCCAGGCTCAGCCCTGACTTTGCTCCGAGATTGGAGTGGGCGCTGGCAGCAGGGAGAAACCAGGCAGTGGGAGCAGGCACTTCTGAGCCTGCGAGGGCGGTGGCAGTTGGGGGGTGCCTTCCCCGGCCCCCAAGTATACAGAGATGCCTGGGTCCACAGCCACGGTTTGGGTAGCTGCAGCTGCA... | GCTGCCCTCAGCCCCCGCCTCGGCTTCCCCCCCGTGCTCGTCAGCGCCCAAAGTCTGGAGAGGGCTGAGGCGGCAGGGGGCTGGCGTGTCAGCGCTGCCTTGAGCGTGCGCACATCTGGCTGGGCTGCAGCAGCACCCAGGCTCAGCCCTGACTTTGCTCCGAGATTGGAGTGGGCGCTGGCAGCAGGGAGAAACCAGGCAGTGGGAGCAGGCACTTCTGAGCCTGCGAGGGCGGTGGCAGTTGGGGGGTGCCTTCCCCGGCCCCCAAGTATACAGAGATGCCTGGGTCCACAGCCACGGTTTGGGTAGCTGCAGCTGCA... |
Task1_train_19215 | A mutation in RB1 (RB transcriptional corepressor 1), located on Chromosome 13, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hereditary cancer-predisposing syndrome | GCTGCCCTCAGCCCCCGCCTCGGCTTCCCCCCCGTGCTCGTCAGCGCCCAAAGTCTGGAGAGGGCTGAGGCGGCAGGGGGCTGGCGTGTCAGCGCTGCCTTGAGCGTGCGCACATCTGGCTGGGCTGCAGCAGCACCCAGGCTCAGCCCTGACTTTGCTCCGAGATTGGAGTGGGCGCTGGCAGCAGGGAGAAACCAGGCAGTGGGAGCAGGCACTTCTGAGCCTGCGAGGGCGGTGGCAGTTGGGGGGTGCCTTCCCCGGCCCCCAAGTATACAGAGATGCCTGGGTCCACAGCCACGGTTTGGGTAGCTGCAGCTGCA... | GCTGCCCTCAGCCCCCGCCTCGGCTTCCCCCCCGTGCTCGTCAGCGCCCAAAGTCTGGAGAGGGCTGAGGCGGCAGGGGGCTGGCGTGTCAGCGCTGCCTTGAGCGTGCGCACATCTGGCTGGGCTGCAGCAGCACCCAGGCTCAGCCCTGACTTTGCTCCGAGATTGGAGTGGGCGCTGGCAGCAGGGAGAAACCAGGCAGTGGGAGCAGGCACTTCTGAGCCTGCGAGGGCGGTGGCAGTTGGGGGGTGCCTTCCCCGGCCCCCAAGTATACAGAGATGCCTGGGTCCACAGCCACGGTTTGGGTAGCTGCAGCTGCA... |
Task1_train_19216 | A variant was discovered on Chromosome 13, affecting RB1 (RB transcriptional corepressor 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Vulvar adenocarcinoma of mammary gland type | GCTGCCCTCAGCCCCCGCCTCGGCTTCCCCCCCGTGCTCGTCAGCGCCCAAAGTCTGGAGAGGGCTGAGGCGGCAGGGGGCTGGCGTGTCAGCGCTGCCTTGAGCGTGCGCACATCTGGCTGGGCTGCAGCAGCACCCAGGCTCAGCCCTGACTTTGCTCCGAGATTGGAGTGGGCGCTGGCAGCAGGGAGAAACCAGGCAGTGGGAGCAGGCACTTCTGAGCCTGCGAGGGCGGTGGCAGTTGGGGGGTGCCTTCCCCGGCCCCCAAGTATACAGAGATGCCTGGGTCCACAGCCACGGTTTGGGTAGCTGCAGCTGCA... | GCTGCCCTCAGCCCCCGCCTCGGCTTCCCCCCCGTGCTCGTCAGCGCCCAAAGTCTGGAGAGGGCTGAGGCGGCAGGGGGCTGGCGTGTCAGCGCTGCCTTGAGCGTGCGCACATCTGGCTGGGCTGCAGCAGCACCCAGGCTCAGCCCTGACTTTGCTCCGAGATTGGAGTGGGCGCTGGCAGCAGGGAGAAACCAGGCAGTGGGAGCAGGCACTTCTGAGCCTGCGAGGGCGGTGGCAGTTGGGGGGTGCCTTCCCCGGCCCCCAAGTATACAGAGATGCCTGGGTCCACAGCCACGGTTTGGGTAGCTGCAGCTGCA... |
Task1_train_19217 | This mutation occurs in RB1 (RB transcriptional corepressor 1) on Chromosome 13. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Lip and oral cavity carcinoma | AGAGGGCTGAGGCGGCAGGGGGCTGGCGTGTCAGCGCTGCCTTGAGCGTGCGCACATCTGGCTGGGCTGCAGCAGCACCCAGGCTCAGCCCTGACTTTGCTCCGAGATTGGAGTGGGCGCTGGCAGCAGGGAGAAACCAGGCAGTGGGAGCAGGCACTTCTGAGCCTGCGAGGGCGGTGGCAGTTGGGGGGTGCCTTCCCCGGCCCCCAAGTATACAGAGATGCCTGGGTCCACAGCCACGGTTTGGGTAGCTGCAGCTGCACTGGGGAGGGTGGGACTCCTACCTGCTCCCCAGCCCAGAGAGCACAGGGATGCCTGGG... | AGAGGGCTGAGGCGGCAGGGGGCTGGCGTGTCAGCGCTGCCTTGAGCGTGCGCACATCTGGCTGGGCTGCAGCAGCACCCAGGCTCAGCCCTGACTTTGCTCCGAGATTGGAGTGGGCGCTGGCAGCAGGGAGAAACCAGGCAGTGGGAGCAGGCACTTCTGAGCCTGCGAGGGCGGTGGCAGTTGGGGGGTGCCTTCCCCGGCCCCCAAGTATACAGAGATGCCTGGGTCCACAGCCACGGTTTGGGTAGCTGCAGCTGCACTGGGGAGGGTGGGACTCCTACCTGCTCCCCAGCCCAGAGAGCACAGGGATGCCTGGG... |
Task1_train_19218 | Chromosome 13 houses a mutation in gene RB1 (RB transcriptional corepressor 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Retinoblastoma | TGGGCTGCAGCAGCACCCAGGCTCAGCCCTGACTTTGCTCCGAGATTGGAGTGGGCGCTGGCAGCAGGGAGAAACCAGGCAGTGGGAGCAGGCACTTCTGAGCCTGCGAGGGCGGTGGCAGTTGGGGGGTGCCTTCCCCGGCCCCCAAGTATACAGAGATGCCTGGGTCCACAGCCACGGTTTGGGTAGCTGCAGCTGCACTGGGGAGGGTGGGACTCCTACCTGCTCCCCAGCCCAGAGAGCACAGGGATGCCTGGGTCCGCAGCGGTGGCTTGGGCGGCTGCAGAAGCACTGGGGAGCTCCTGTCCCAACTCGGAAGG... | TGGGCTGCAGCAGCACCCAGGCTCAGCCCTGACTTTGCTCCGAGATTGGAGTGGGCGCTGGCAGCAGGGAGAAACCAGGCAGTGGGAGCAGGCACTTCTGAGCCTGCGAGGGCGGTGGCAGTTGGGGGGTGCCTTCCCCGGCCCCCAAGTATACAGAGATGCCTGGGTCCACAGCCACGGTTTGGGTAGCTGCAGCTGCACTGGGGAGGGTGGGACTCCTACCTGCTCCCCAGCCCAGAGAGCACAGGGATGCCTGGGTCCGCAGCGGTGGCTTGGGCGGCTGCAGAAGCACTGGGGAGCTCCTGTCCCAACTCGGAAGG... |
Task1_train_19219 | Consider a variant on Chromosome 13 in gene RB1 (RB transcriptional corepressor 1). Determine its clinical classification and disease relevance. | Pathogenic; Hereditary cancer-predisposing syndrome | CTGCAGCAGCACCCAGGCTCAGCCCTGACTTTGCTCCGAGATTGGAGTGGGCGCTGGCAGCAGGGAGAAACCAGGCAGTGGGAGCAGGCACTTCTGAGCCTGCGAGGGCGGTGGCAGTTGGGGGGTGCCTTCCCCGGCCCCCAAGTATACAGAGATGCCTGGGTCCACAGCCACGGTTTGGGTAGCTGCAGCTGCACTGGGGAGGGTGGGACTCCTACCTGCTCCCCAGCCCAGAGAGCACAGGGATGCCTGGGTCCGCAGCGGTGGCTTGGGCGGCTGCAGAAGCACTGGGGAGCTCCTGTCCCAACTCGGAAGGGGCG... | CTGCAGCAGCACCCAGGCTCAGCCCTGACTTTGCTCCGAGATTGGAGTGGGCGCTGGCAGCAGGGAGAAACCAGGCAGTGGGAGCAGGCACTTCTGAGCCTGCGAGGGCGGTGGCAGTTGGGGGGTGCCTTCCCCGGCCCCCAAGTATACAGAGATGCCTGGGTCCACAGCCACGGTTTGGGTAGCTGCAGCTGCACTGGGGAGGGTGGGACTCCTACCTGCTCCCCAGCCCAGAGAGCACAGGGATGCCTGGGTCCGCAGCGGTGGCTTGGGCGGCTGCAGAAGCACTGGGGAGCTCCTGTCCCAACTCGGAAGGGGCG... |
Task1_train_19220 | With a mutation on Chromosome 13 in gene RB1 (RB transcriptional corepressor 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Retinoblastoma | CCATGTGTATATCTTCTTTAGAGAAATGTCTATCAGACCGTTTGCCCATTTTATTTTTTATTTATTTTTTTTATTTTTGACACGGAGTCTTGCTCTGTCGCCCAGGCTAGAGTGCAGTGGCACGATCTCGGCTCACGGCAATCTTCGCCTTCTGGGTTCAAGCAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGTGCCACCACACCTGGCTAATTTCTGTATTTTTAGTAGAGACGGGGTTTCATTATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTTGTGTTCCACCCGCCTTGGCCTCCCAA... | CCATGTGTATATCTTCTTTAGAGAAATGTCTATCAGACCGTTTGCCCATTTTATTTTTTATTTATTTTTTTTATTTTTGACACGGAGTCTTGCTCTGTCGCCCAGGCTAGAGTGCAGTGGCACGATCTCGGCTCACGGCAATCTTCGCCTTCTGGGTTCAAGCAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGTGCCACCACACCTGGCTAATTTCTGTATTTTTAGTAGAGACGGGGTTTCATTATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTTGTGTTCCACCCGCCTTGGCCTCCCAA... |
Task1_train_19221 | A mutation found in RB1 (RB transcriptional corepressor 1) on Chromosome 13 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Retinoblastoma | TCTTTAGAGAAATGTCTATCAGACCGTTTGCCCATTTTATTTTTTATTTATTTTTTTTATTTTTGACACGGAGTCTTGCTCTGTCGCCCAGGCTAGAGTGCAGTGGCACGATCTCGGCTCACGGCAATCTTCGCCTTCTGGGTTCAAGCAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGTGCCACCACACCTGGCTAATTTCTGTATTTTTAGTAGAGACGGGGTTTCATTATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTTGTGTTCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTAC... | TCTTTAGAGAAATGTCTATCAGACCGTTTGCCCATTTTATTTTTTATTTATTTTTTTTATTTTTGACACGGAGTCTTGCTCTGTCGCCCAGGCTAGAGTGCAGTGGCACGATCTCGGCTCACGGCAATCTTCGCCTTCTGGGTTCAAGCAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGTGCCACCACACCTGGCTAATTTCTGTATTTTTAGTAGAGACGGGGTTTCATTATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTTGTGTTCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTAC... |
Task1_train_19222 | With a mutation on Chromosome 13 in gene RCBTB1 (RCC1 and BTB domain containing protein 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | CAAGCACAGAGCATCATGACCCACTTATTCCCTCTGCTTATAAATAAAACAACTTAAAAGAAATATGCTAGCAAAAAGGCAAACATAAACAAGAAATAAAATAAAAAGATTAAAGTCACCTTGTAAATGGCTACTCAGTTTTAAGACATCCTAGCTTTTTCAGCCAATAATGGACTCTTAAAGAAGACAATATTCAGAAAAGGTACAGATTATGTAACCAAATATCACCCCAAATTCCACTACCCTTTATAATACCTCTGTTTTGATGCCCTTCTGAAATAAAAGAATTTGAAATCAGTTGAAAGACAAAGATAGAAAGA... | CAAGCACAGAGCATCATGACCCACTTATTCCCTCTGCTTATAAATAAAACAACTTAAAAGAAATATGCTAGCAAAAAGGCAAACATAAACAAGAAATAAAATAAAAAGATTAAAGTCACCTTGTAAATGGCTACTCAGTTTTAAGACATCCTAGCTTTTTCAGCCAATAATGGACTCTTAAAGAAGACAATATTCAGAAAAGGTACAGATTATGTAACCAAATATCACCCCAAATTCCACTACCCTTTATAATACCTCTGTTTTGATGCCCTTCTGAAATAAAAGAATTTGAAATCAGTTGAAAGACAAAGATAGAAAGA... |
Task1_train_19223 | A variant has been detected on Chromosome 13 in KPNA3 (karyopherin subunit alpha 3). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Spastic paraplegia 88, autosomal dominant | TTCCAATATATTTACTCCACACATCATATACATGTTTATCAATTTCACACCTTAATATTCTTCCTTGAAATGTCTTTTTGAAGGTTATTTTAAAATAGTTGCAATTTTTTCTTATATACTAATAAACCAAAAGAATGGGGGAAATCGTTGCCAAAGTGCTTTATACAATTATAAAATATTAATATGTATCCTATTACTCCTATAGACAAAAGTAACTATATTGATAAAAAGCTGAAGAGTAGTAATTCTCTAAGTTGCTCAAACTTACTGTGTTATGAACCTGACTACAATTTTTAATTATCTTAATAGTAAGAAGATCT... | TTCCAATATATTTACTCCACACATCATATACATGTTTATCAATTTCACACCTTAATATTCTTCCTTGAAATGTCTTTTTGAAGGTTATTTTAAAATAGTTGCAATTTTTTCTTATATACTAATAAACCAAAAGAATGGGGGAAATCGTTGCCAAAGTGCTTTATACAATTATAAAATATTAATATGTATCCTATTACTCCTATAGACAAAAGTAACTATATTGATAAAAAGCTGAAGAGTAGTAATTCTCTAAGTTGCTCAAACTTACTGTGTTATGAACCTGACTACAATTTTTAATTATCTTAATAGTAAGAAGATCT... |
Task1_train_19224 | A sequence alteration has been identified in KPNA3 (karyopherin subunit alpha 3) on Chromosome 13. Is it disease-inducing or harmless? | Pathogenic; Spastic paraplegia 88, autosomal dominant | AGCTACTAGGGAGGCTGAGGTAGGAGAATTGCTTAAACCCGGGAGACGGAGGTTGCGGTGAGCCATTACACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAAATAAATAAATAAAAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAGAAAGAAAGAAATCCTCCCAGTCTGAATATTCTACGGTACTACTGCATTTGTTTTCTCTTAAAATAAATAAATAAATAAACAATAGAATATTCATATAAAGTAGTCAATGAAATGTAAAATCTAAAACATGACATTATGATAAA... | AGCTACTAGGGAGGCTGAGGTAGGAGAATTGCTTAAACCCGGGAGACGGAGGTTGCGGTGAGCCATTACACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAAATAAATAAATAAAAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAGAAAGAAAGAAATCCTCCCAGTCTGAATATTCTACGGTACTACTGCATTTGTTTTCTCTTAAAATAAATAAATAAATAAACAATAGAATATTCATATAAAGTAGTCAATGAAATGTAAAATCTAAAACATGACATTATGATAAA... |
Task1_train_19225 | Gene KPNA3 (karyopherin subunit alpha 3) on Chromosome 13 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Spastic paraplegia 88, autosomal dominant | ATTTCTATGAAATTTTCCTCTACCCCCCACGATACCCTCACTTAAAAGCATACTACATCACAGGCCGGAACCTTTCTCTGCTGACTTCTGCCCAGCTTCCTCACTTCTCAGTTGTTTCCAATTATGGAATATATTCATTTAGCTAAAAAAAAAAAAATCACCTATATTGTTAAAAATTTCTTTAGTAAAAGTAACTGGCCCAGAGTCTGAAAGTCTCTGGCTTCTTTGTCTTCACTGGAACAAATGTATCTATAAAATGTGTTTTTTGACACCATACTTTTCTATAAGAACCCAACAGTCAAATTATACTCAAGCAACTA... | ATTTCTATGAAATTTTCCTCTACCCCCCACGATACCCTCACTTAAAAGCATACTACATCACAGGCCGGAACCTTTCTCTGCTGACTTCTGCCCAGCTTCCTCACTTCTCAGTTGTTTCCAATTATGGAATATATTCATTTAGCTAAAAAAAAAAAAATCACCTATATTGTTAAAAATTTCTTTAGTAAAAGTAACTGGCCCAGAGTCTGAAAGTCTCTGGCTTCTTTGTCTTCACTGGAACAAATGTATCTATAAAATGTGTTTTTTGACACCATACTTTTCTATAAGAACCCAACAGTCAAATTATACTCAAGCAACTA... |
Task1_train_19226 | A sequence alteration has been identified in KPNA3 (karyopherin subunit alpha 3) on Chromosome 13. Is it disease-inducing or harmless? | Pathogenic; Spastic paraplegia 88, autosomal dominant | TCTACCCCCCACGATACCCTCACTTAAAAGCATACTACATCACAGGCCGGAACCTTTCTCTGCTGACTTCTGCCCAGCTTCCTCACTTCTCAGTTGTTTCCAATTATGGAATATATTCATTTAGCTAAAAAAAAAAAAATCACCTATATTGTTAAAAATTTCTTTAGTAAAAGTAACTGGCCCAGAGTCTGAAAGTCTCTGGCTTCTTTGTCTTCACTGGAACAAATGTATCTATAAAATGTGTTTTTTGACACCATACTTTTCTATAAGAACCCAACAGTCAAATTATACTCAAGCAACTATACAAATATAGTTATGAT... | TCTACCCCCCACGATACCCTCACTTAAAAGCATACTACATCACAGGCCGGAACCTTTCTCTGCTGACTTCTGCCCAGCTTCCTCACTTCTCAGTTGTTTCCAATTATGGAATATATTCATTTAGCTAAAAAAAAAAAAATCACCTATATTGTTAAAAATTTCTTTAGTAAAAGTAACTGGCCCAGAGTCTGAAAGTCTCTGGCTTCTTTGTCTTCACTGGAACAAATGTATCTATAAAATGTGTTTTTTGACACCATACTTTTCTATAAGAACCCAACAGTCAAATTATACTCAAGCAACTATACAAATATAGTTATGAT... |
Task1_train_19227 | Here is a variant affecting KPNA3 (karyopherin subunit alpha 3) on Chromosome 13. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | TCACAGGCCGGAACCTTTCTCTGCTGACTTCTGCCCAGCTTCCTCACTTCTCAGTTGTTTCCAATTATGGAATATATTCATTTAGCTAAAAAAAAAAAAATCACCTATATTGTTAAAAATTTCTTTAGTAAAAGTAACTGGCCCAGAGTCTGAAAGTCTCTGGCTTCTTTGTCTTCACTGGAACAAATGTATCTATAAAATGTGTTTTTTGACACCATACTTTTCTATAAGAACCCAACAGTCAAATTATACTCAAGCAACTATACAAATATAGTTATGATGACGAAGAAGAAATGATCAGTTCTGCTGGGTTTGGGTGA... | TCACAGGCCGGAACCTTTCTCTGCTGACTTCTGCCCAGCTTCCTCACTTCTCAGTTGTTTCCAATTATGGAATATATTCATTTAGCTAAAAAAAAAAAAATCACCTATATTGTTAAAAATTTCTTTAGTAAAAGTAACTGGCCCAGAGTCTGAAAGTCTCTGGCTTCTTTGTCTTCACTGGAACAAATGTATCTATAAAATGTGTTTTTTGACACCATACTTTTCTATAAGAACCCAACAGTCAAATTATACTCAAGCAACTATACAAATATAGTTATGATGACGAAGAAGAAATGATCAGTTCTGCTGGGTTTGGGTGA... |
Task1_train_19228 | Here is a mutation in LOC130009810, RNASEH2B, RNASEH2B-AS1 (ATAC-STARR-seq lymphoblastoid silent region 5362| ribonuclease H2 subunit B| RNASEH2B antisense RNA 1) on Chromosome 13. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | ATTCGTAAGTTTTAAATTGTACAGTGTTCTGAGTGGTGTGAAGAAATCTTGCACCATCCAGCTTCGTCCTGCAAAGGACCTGAATTCTACCTTTGTCCAGCGGATCCACACTGCAGAAGGTCCCCTCCTTATGAGTCACTTAGTAGCTGCAAGAGTAGTGATGCTGGCATACTGTGAGAATTGTTCTATTTTATTATTATTGTTGTTCATCTCTTACTGGGCCTAATTTTCAAATTAAACTTTATCACAGATATACATGCAAAGGAAAAAACAGTATATTAGGGTTTGGTACTATTTGCGGTTTTAGGCCTTCACTGGGG... | ATTCGTAAGTTTTAAATTGTACAGTGTTCTGAGTGGTGTGAAGAAATCTTGCACCATCCAGCTTCGTCCTGCAAAGGACCTGAATTCTACCTTTGTCCAGCGGATCCACACTGCAGAAGGTCCCCTCCTTATGAGTCACTTAGTAGCTGCAAGAGTAGTGATGCTGGCATACTGTGAGAATTGTTCTATTTTATTATTATTGTTGTTCATCTCTTACTGGGCCTAATTTTCAAATTAAACTTTATCACAGATATACATGCAAAGGAAAAAACAGTATATTAGGGTTTGGTACTATTTGCGGTTTTAGGCCTTCACTGGGG... |
Task1_train_19229 | Gene RNASEH2B (ribonuclease H2 subunit B) on Chromosome 13 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Aicardi-Goutieres syndrome 2 | AGCATGTGCTGGGGTATGCATGAGCCCTGGTAGCATGGCTCAGTCTGTGCTCTCTGCCCCTTCTTAGAGAATAATTCCCAGAGGTAGAGGAGAAGCCTCCTAGTGGGGCTCAGGGAGTGGGAGACAGGAAGGAAAACAGCAGCAGATGGTAGACATTCTTTGAGAAAATTTGGAGGTAGAGGCAAGAAAGAAGTGAGATGCCAGATCAGGGTAGGATTTTCAGGAGAACCTTGAGCAGTGAGCTTCTTTTGGAGTTTTTTTTTCCTCAGGCAATGAACATAACTTCTAAAAGCCATTCAGCGTCATATATTTATTTAGTG... | AGCATGTGCTGGGGTATGCATGAGCCCTGGTAGCATGGCTCAGTCTGTGCTCTCTGCCCCTTCTTAGAGAATAATTCCCAGAGGTAGAGGAGAAGCCTCCTAGTGGGGCTCAGGGAGTGGGAGACAGGAAGGAAAACAGCAGCAGATGGTAGACATTCTTTGAGAAAATTTGGAGGTAGAGGCAAGAAAGAAGTGAGATGCCAGATCAGGGTAGGATTTTCAGGAGAACCTTGAGCAGTGAGCTTCTTTTGGAGTTTTTTTTTCCTCAGGCAATGAACATAACTTCTAAAAGCCATTCAGCGTCATATATTTATTTAGTG... |
Task1_train_19230 | This is a variant in ATP7B (ATPase copper transporting beta), located on Chromosome 13. Is this mutation a likely cause of disease or not? | Pathogenic; Wilson disease | TGCAGGCTCAGGGAGGCTGTGTTTTCCTCCTATTTGGGCAGTACCATTTCCTCCAAGCCACACAAGGCCAGGCGCTAGTCACATGAATTCTCTACTGAACCCCACGAGGTGACAGTCAGAAGACTGAAAACGAAGCCCCTTGGGCCGTGCAGGGAGGCTCCTGCACACATACGTTTCCCATGGGGCAAACGTTTCAAGCACCACAGGCTGGGCAGGGATATGGAAGGACGTCCTGAATCGCGAGAACCTACACCCCACAGGAAGCCGAGTACGGACTCTCAGGTCAGGCTCTGAGGCCCTCACTCCAGCTGGTCAGCAAC... | TGCAGGCTCAGGGAGGCTGTGTTTTCCTCCTATTTGGGCAGTACCATTTCCTCCAAGCCACACAAGGCCAGGCGCTAGTCACATGAATTCTCTACTGAACCCCACGAGGTGACAGTCAGAAGACTGAAAACGAAGCCCCTTGGGCCGTGCAGGGAGGCTCCTGCACACATACGTTTCCCATGGGGCAAACGTTTCAAGCACCACAGGCTGGGCAGGGATATGGAAGGACGTCCTGAATCGCGAGAACCTACACCCCACAGGAAGCCGAGTACGGACTCTCAGGTCAGGCTCTGAGGCCCTCACTCCAGCTGGTCAGCAAC... |
Task1_train_19231 | This sequence change occurs on Chromosome 13, altering ATP7B (ATPase copper transporting beta). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Wilson disease | TCTGCTTGATGTTCACATAAACAGCCCTTGAGGAGCAGAGTAAGGGCAGCCCAGCACGTGAATGGGCAGCAGTGAATTGCCTGCTCATGGTGCTGATAAGTTACATGCATGCACACCAGGCTCCATGTGGGCTGCCACTGCAGCATTTGTCCCAGGTGAATGAATGGGAAATGAGAGGCAAGTTCCACTGTGCTAAGCATGCAGAATGACAAGGCCTCCTGGGAGCCTCCCACAGATGCTCCACCTGAGGGGACTCACCACTTGAGCTGCAGGGATGAGAGCACCACAGACACAGAGGAGGCTGCCATGGCCGCTGAGCC... | TCTGCTTGATGTTCACATAAACAGCCCTTGAGGAGCAGAGTAAGGGCAGCCCAGCACGTGAATGGGCAGCAGTGAATTGCCTGCTCATGGTGCTGATAAGTTACATGCATGCACACCAGGCTCCATGTGGGCTGCCACTGCAGCATTTGTCCCAGGTGAATGAATGGGAAATGAGAGGCAAGTTCCACTGTGCTAAGCATGCAGAATGACAAGGCCTCCTGGGAGCCTCCCACAGATGCTCCACCTGAGGGGACTCACCACTTGAGCTGCAGGGATGAGAGCACCACAGACACAGAGGAGGCTGCCATGGCCGCTGAGCC... |
Task1_train_19232 | This alteration occurs within gene ATP7B (ATPase copper transporting beta) located on Chromosome 13. Is it associated with a disease or is it a benign variant? | Pathogenic; Wilson disease | CTGTGCTAAGCATGCAGAATGACAAGGCCTCCTGGGAGCCTCCCACAGATGCTCCACCTGAGGGGACTCACCACTTGAGCTGCAGGGATGAGAGCACCACAGACACAGAGGAGGCTGCCATGGCCGCTGAGCCCATCCAGGGCTGCAGCACAATGCCGATGGGCATGAAGACACCTGGGGAAGAAAGAACTCGCACTCACACCTAGGTCTGGGGAGAGGAGCCAGGAGAGGGCTTCAGGCACCGGGCTGCCCCACCCTCAGCGGCCCCCAGTGAGGTCTCCACCTGGCGTGCTCAGAAGCCCCTGCCAATGGATCTTGCC... | CTGTGCTAAGCATGCAGAATGACAAGGCCTCCTGGGAGCCTCCCACAGATGCTCCACCTGAGGGGACTCACCACTTGAGCTGCAGGGATGAGAGCACCACAGACACAGAGGAGGCTGCCATGGCCGCTGAGCCCATCCAGGGCTGCAGCACAATGCCGATGGGCATGAAGACACCTGGGGAAGAAAGAACTCGCACTCACACCTAGGTCTGGGGAGAGGAGCCAGGAGAGGGCTTCAGGCACCGGGCTGCCCCACCCTCAGCGGCCCCCAGTGAGGTCTCCACCTGGCGTGCTCAGAAGCCCCTGCCAATGGATCTTGCC... |
Task1_train_19233 | This variant affects the gene ATP7B (ATPase copper transporting beta) found on Chromosome 13. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Inborn genetic diseases | CTGTGCTAAGCATGCAGAATGACAAGGCCTCCTGGGAGCCTCCCACAGATGCTCCACCTGAGGGGACTCACCACTTGAGCTGCAGGGATGAGAGCACCACAGACACAGAGGAGGCTGCCATGGCCGCTGAGCCCATCCAGGGCTGCAGCACAATGCCGATGGGCATGAAGACACCTGGGGAAGAAAGAACTCGCACTCACACCTAGGTCTGGGGAGAGGAGCCAGGAGAGGGCTTCAGGCACCGGGCTGCCCCACCCTCAGCGGCCCCCAGTGAGGTCTCCACCTGGCGTGCTCAGAAGCCCCTGCCAATGGATCTTGCC... | CTGTGCTAAGCATGCAGAATGACAAGGCCTCCTGGGAGCCTCCCACAGATGCTCCACCTGAGGGGACTCACCACTTGAGCTGCAGGGATGAGAGCACCACAGACACAGAGGAGGCTGCCATGGCCGCTGAGCCCATCCAGGGCTGCAGCACAATGCCGATGGGCATGAAGACACCTGGGGAAGAAAGAACTCGCACTCACACCTAGGTCTGGGGAGAGGAGCCAGGAGAGGGCTTCAGGCACCGGGCTGCCCCACCCTCAGCGGCCCCCAGTGAGGTCTCCACCTGGCGTGCTCAGAAGCCCCTGCCAATGGATCTTGCC... |
Task1_train_19234 | Gene ATP7B (ATPase copper transporting beta), found on Chromosome 13, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | GCCAAGCATCTCCACTAGCTTTTTAGAAAGGACCAGAGTGAATGAAGGTTTCAGGTCCTCTCCACAGTTTCTCATTTAAAGACATATAAAGCAGGGGACATGAAAAAAAAAAAAAAACAGCCTTTCTAAAACGCCTCTAGCCAGCCAGTGAGTGAGCCACTCACTAACCCCAGCAGGAACCTGGGAGACAGAAGCCTTTCTGGGCGCAGCTGGAGCACAGTGGGTAAGAGCTGCCTACCTGCTGCAATGGGTATCCCAACCAGGTTATAAATCAGTGCCAGGACCAGGTTGATGCGTATCCTTCGGACAGTCCTCTTGGA... | GCCAAGCATCTCCACTAGCTTTTTAGAAAGGACCAGAGTGAATGAAGGTTTCAGGTCCTCTCCACAGTTTCTCATTTAAAGACATATAAAGCAGGGGACATGAAAAAAAAAAAAAAACAGCCTTTCTAAAACGCCTCTAGCCAGCCAGTGAGTGAGCCACTCACTAACCCCAGCAGGAACCTGGGAGACAGAAGCCTTTCTGGGCGCAGCTGGAGCACAGTGGGTAAGAGCTGCCTACCTGCTGCAATGGGTATCCCAACCAGGTTATAAATCAGTGCCAGGACCAGGTTGATGCGTATCCTTCGGACAGTCCTCTTGGA... |
Task1_train_19235 | Given a variant located on Chromosome 13 and affecting ATP7B (ATPase copper transporting beta), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Wilson disease | AGCTCTGGCTGTCTTCCGGTTGTCCCCCGTGATCAGAACCACGTCCACACCCATGCTCTGCAGCGTGTGCACAGCCAGGGCAGCCTCCTGCTTGACAGCGTCTGCGATTGCGATCATCCCACAGAGCACACCTGGAGCGAACCAGCCAGCATCAGCAGCTACACAAGTTGGGGCACCCCGCACCAAGATACCACACTTGCAATGTTCTCATCATATAATATTATGTGCAAAAAACAAAACATCAAATTATATAACACAATGTGGTTTTTTTGCTTTTTAAAAAGTACATGCATTTACGGATGTACACAAAAGTCTGGAAG... | AGCTCTGGCTGTCTTCCGGTTGTCCCCCGTGATCAGAACCACGTCCACACCCATGCTCTGCAGCGTGTGCACAGCCAGGGCAGCCTCCTGCTTGACAGCGTCTGCGATTGCGATCATCCCACAGAGCACACCTGGAGCGAACCAGCCAGCATCAGCAGCTACACAAGTTGGGGCACCCCGCACCAAGATACCACACTTGCAATGTTCTCATCATATAATATTATGTGCAAAAAACAAAACATCAAATTATATAACACAATGTGGTTTTTTTGCTTTTTAAAAAGTACATGCATTTACGGATGTACACAAAAGTCTGGAAG... |
Task1_train_19236 | The gene ATP7B (ATPase copper transporting beta) on Chromosome 13 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Wilson disease | GGAGTTCGAGACCAGCCTGGTGAAACCCCGTCTCTACTAAAAATACAAAATGTAGCTGGGCGTGGTGGCGGGGGCCTGTAATCCCAGCTACTCAGGAGTCTGAGGCAGGAGAATTGCTTGAACCCGGAAGGTGGAGCTTGTAGTGAGACAAGTCACACCACTCCACTGCACTACAGCCTGGGTGACAAGAGGGAAACTCAGTCTAAAAAAGAAAAAGAAAGTAATAATAAATAAATAAAGCAGACAGAGAAGGGTGGCATGGATCTCATTATTTAAATGCATCCTGTAGTTAAACCTGCTGGGAAGTGAATTCCTGCTCT... | GGAGTTCGAGACCAGCCTGGTGAAACCCCGTCTCTACTAAAAATACAAAATGTAGCTGGGCGTGGTGGCGGGGGCCTGTAATCCCAGCTACTCAGGAGTCTGAGGCAGGAGAATTGCTTGAACCCGGAAGGTGGAGCTTGTAGTGAGACAAGTCACACCACTCCACTGCACTACAGCCTGGGTGACAAGAGGGAAACTCAGTCTAAAAAAGAAAAAGAAAGTAATAATAAATAAATAAAGCAGACAGAGAAGGGTGGCATGGATCTCATTATTTAAATGCATCCTGTAGTTAAACCTGCTGGGAAGTGAATTCCTGCTCT... |
Task1_train_19237 | This alteration in ATP7B (ATPase copper transporting beta) on Chromosome 13 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Wilson disease | AACCCCGTCTCTACTAAAAATACAAAATGTAGCTGGGCGTGGTGGCGGGGGCCTGTAATCCCAGCTACTCAGGAGTCTGAGGCAGGAGAATTGCTTGAACCCGGAAGGTGGAGCTTGTAGTGAGACAAGTCACACCACTCCACTGCACTACAGCCTGGGTGACAAGAGGGAAACTCAGTCTAAAAAAGAAAAAGAAAGTAATAATAAATAAATAAAGCAGACAGAGAAGGGTGGCATGGATCTCATTATTTAAATGCATCCTGTAGTTAAACCTGCTGGGAAGTGAATTCCTGCTCTGTCTGCAGGGATGAAGGAGAAGG... | AACCCCGTCTCTACTAAAAATACAAAATGTAGCTGGGCGTGGTGGCGGGGGCCTGTAATCCCAGCTACTCAGGAGTCTGAGGCAGGAGAATTGCTTGAACCCGGAAGGTGGAGCTTGTAGTGAGACAAGTCACACCACTCCACTGCACTACAGCCTGGGTGACAAGAGGGAAACTCAGTCTAAAAAAGAAAAAGAAAGTAATAATAAATAAATAAAGCAGACAGAGAAGGGTGGCATGGATCTCATTATTTAAATGCATCCTGTAGTTAAACCTGCTGGGAAGTGAATTCCTGCTCTGTCTGCAGGGATGAAGGAGAAGG... |
Task1_train_19238 | A mutation found in ATP7B (ATPase copper transporting beta) on Chromosome 13 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Wilson disease | CCCCGTCTCTACTAAAAATACAAAATGTAGCTGGGCGTGGTGGCGGGGGCCTGTAATCCCAGCTACTCAGGAGTCTGAGGCAGGAGAATTGCTTGAACCCGGAAGGTGGAGCTTGTAGTGAGACAAGTCACACCACTCCACTGCACTACAGCCTGGGTGACAAGAGGGAAACTCAGTCTAAAAAAGAAAAAGAAAGTAATAATAAATAAATAAAGCAGACAGAGAAGGGTGGCATGGATCTCATTATTTAAATGCATCCTGTAGTTAAACCTGCTGGGAAGTGAATTCCTGCTCTGTCTGCAGGGATGAAGGAGAAGGAT... | CCCCGTCTCTACTAAAAATACAAAATGTAGCTGGGCGTGGTGGCGGGGGCCTGTAATCCCAGCTACTCAGGAGTCTGAGGCAGGAGAATTGCTTGAACCCGGAAGGTGGAGCTTGTAGTGAGACAAGTCACACCACTCCACTGCACTACAGCCTGGGTGACAAGAGGGAAACTCAGTCTAAAAAAGAAAAAGAAAGTAATAATAAATAAATAAAGCAGACAGAGAAGGGTGGCATGGATCTCATTATTTAAATGCATCCTGTAGTTAAACCTGCTGGGAAGTGAATTCCTGCTCTGTCTGCAGGGATGAAGGAGAAGGAT... |
Task1_train_19239 | Assess the clinical impact of this variant on gene ATP7B (ATPase copper transporting beta), found on Chromosome 13. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Inborn genetic diseases | ACTCTGTAGCTTATGAGAAGCAAGACCGATATGGGATAAGAAAGAGGAGAATCAAAATCATGGGTCAGCTAAACAATGCTCTATGAATTTAAGGCAGCCATAAGCAACAAAATTTAGACGCACCCAAGAACATAAGAGAAACTTTCCTGGGTGTGGGGAGGCAGGCTTGGGTGCCTTAGCCATGAACCGTCTGCCGCACAGCAGAGGCAATCACTGCTGGGCGTGGTGCTCTCTGTGGTTTGACCCACCTCTACTTTTAACCAGCTGCAGAGACAAAAGCCAGCAATACCTTTTTCTGCGGGAAGGCTGCCAGCCTCATT... | ACTCTGTAGCTTATGAGAAGCAAGACCGATATGGGATAAGAAAGAGGAGAATCAAAATCATGGGTCAGCTAAACAATGCTCTATGAATTTAAGGCAGCCATAAGCAACAAAATTTAGACGCACCCAAGAACATAAGAGAAACTTTCCTGGGTGTGGGGAGGCAGGCTTGGGTGCCTTAGCCATGAACCGTCTGCCGCACAGCAGAGGCAATCACTGCTGGGCGTGGTGCTCTCTGTGGTTTGACCCACCTCTACTTTTAACCAGCTGCAGAGACAAAAGCCAGCAATACCTTTTTCTGCGGGAAGGCTGCCAGCCTCATT... |
Task1_train_19240 | Located on Chromosome 13, this mutation impacts ATP7B (ATPase copper transporting beta). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Wilson disease | ACTCTGTAGCTTATGAGAAGCAAGACCGATATGGGATAAGAAAGAGGAGAATCAAAATCATGGGTCAGCTAAACAATGCTCTATGAATTTAAGGCAGCCATAAGCAACAAAATTTAGACGCACCCAAGAACATAAGAGAAACTTTCCTGGGTGTGGGGAGGCAGGCTTGGGTGCCTTAGCCATGAACCGTCTGCCGCACAGCAGAGGCAATCACTGCTGGGCGTGGTGCTCTCTGTGGTTTGACCCACCTCTACTTTTAACCAGCTGCAGAGACAAAAGCCAGCAATACCTTTTTCTGCGGGAAGGCTGCCAGCCTCATT... | ACTCTGTAGCTTATGAGAAGCAAGACCGATATGGGATAAGAAAGAGGAGAATCAAAATCATGGGTCAGCTAAACAATGCTCTATGAATTTAAGGCAGCCATAAGCAACAAAATTTAGACGCACCCAAGAACATAAGAGAAACTTTCCTGGGTGTGGGGAGGCAGGCTTGGGTGCCTTAGCCATGAACCGTCTGCCGCACAGCAGAGGCAATCACTGCTGGGCGTGGTGCTCTCTGTGGTTTGACCCACCTCTACTTTTAACCAGCTGCAGAGACAAAAGCCAGCAATACCTTTTTCTGCGGGAAGGCTGCCAGCCTCATT... |
Task1_train_19241 | A genetic alteration is present in ATP7B (ATPase copper transporting beta) on Chromosome 13. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Wilson disease | CTCTGTAGCTTATGAGAAGCAAGACCGATATGGGATAAGAAAGAGGAGAATCAAAATCATGGGTCAGCTAAACAATGCTCTATGAATTTAAGGCAGCCATAAGCAACAAAATTTAGACGCACCCAAGAACATAAGAGAAACTTTCCTGGGTGTGGGGAGGCAGGCTTGGGTGCCTTAGCCATGAACCGTCTGCCGCACAGCAGAGGCAATCACTGCTGGGCGTGGTGCTCTCTGTGGTTTGACCCACCTCTACTTTTAACCAGCTGCAGAGACAAAAGCCAGCAATACCTTTTTCTGCGGGAAGGCTGCCAGCCTCATTC... | CTCTGTAGCTTATGAGAAGCAAGACCGATATGGGATAAGAAAGAGGAGAATCAAAATCATGGGTCAGCTAAACAATGCTCTATGAATTTAAGGCAGCCATAAGCAACAAAATTTAGACGCACCCAAGAACATAAGAGAAACTTTCCTGGGTGTGGGGAGGCAGGCTTGGGTGCCTTAGCCATGAACCGTCTGCCGCACAGCAGAGGCAATCACTGCTGGGCGTGGTGCTCTCTGTGGTTTGACCCACCTCTACTTTTAACCAGCTGCAGAGACAAAAGCCAGCAATACCTTTTTCTGCGGGAAGGCTGCCAGCCTCATTC... |
Task1_train_19242 | This sequence change occurs on Chromosome 13, altering ATP7B (ATPase copper transporting beta). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Inborn genetic diseases | CCGATATGGGATAAGAAAGAGGAGAATCAAAATCATGGGTCAGCTAAACAATGCTCTATGAATTTAAGGCAGCCATAAGCAACAAAATTTAGACGCACCCAAGAACATAAGAGAAACTTTCCTGGGTGTGGGGAGGCAGGCTTGGGTGCCTTAGCCATGAACCGTCTGCCGCACAGCAGAGGCAATCACTGCTGGGCGTGGTGCTCTCTGTGGTTTGACCCACCTCTACTTTTAACCAGCTGCAGAGACAAAAGCCAGCAATACCTTTTTCTGCGGGAAGGCTGCCAGCCTCATTCAGGTGACTGGCCGGTGCACTCAAA... | CCGATATGGGATAAGAAAGAGGAGAATCAAAATCATGGGTCAGCTAAACAATGCTCTATGAATTTAAGGCAGCCATAAGCAACAAAATTTAGACGCACCCAAGAACATAAGAGAAACTTTCCTGGGTGTGGGGAGGCAGGCTTGGGTGCCTTAGCCATGAACCGTCTGCCGCACAGCAGAGGCAATCACTGCTGGGCGTGGTGCTCTCTGTGGTTTGACCCACCTCTACTTTTAACCAGCTGCAGAGACAAAAGCCAGCAATACCTTTTTCTGCGGGAAGGCTGCCAGCCTCATTCAGGTGACTGGCCGGTGCACTCAAA... |
Task1_train_19243 | Consider this mutation in ATP7B (ATPase copper transporting beta) on Chromosome 13. Is this a benign change or a disease-causing variant? | Pathogenic; not specified | CCGATATGGGATAAGAAAGAGGAGAATCAAAATCATGGGTCAGCTAAACAATGCTCTATGAATTTAAGGCAGCCATAAGCAACAAAATTTAGACGCACCCAAGAACATAAGAGAAACTTTCCTGGGTGTGGGGAGGCAGGCTTGGGTGCCTTAGCCATGAACCGTCTGCCGCACAGCAGAGGCAATCACTGCTGGGCGTGGTGCTCTCTGTGGTTTGACCCACCTCTACTTTTAACCAGCTGCAGAGACAAAAGCCAGCAATACCTTTTTCTGCGGGAAGGCTGCCAGCCTCATTCAGGTGACTGGCCGGTGCACTCAAA... | CCGATATGGGATAAGAAAGAGGAGAATCAAAATCATGGGTCAGCTAAACAATGCTCTATGAATTTAAGGCAGCCATAAGCAACAAAATTTAGACGCACCCAAGAACATAAGAGAAACTTTCCTGGGTGTGGGGAGGCAGGCTTGGGTGCCTTAGCCATGAACCGTCTGCCGCACAGCAGAGGCAATCACTGCTGGGCGTGGTGCTCTCTGTGGTTTGACCCACCTCTACTTTTAACCAGCTGCAGAGACAAAAGCCAGCAATACCTTTTTCTGCGGGAAGGCTGCCAGCCTCATTCAGGTGACTGGCCGGTGCACTCAAA... |
Task1_train_19244 | The following genetic variant occurs in ATP7B (ATPase copper transporting beta) on Chromosome 13. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Wilson disease | CCGATATGGGATAAGAAAGAGGAGAATCAAAATCATGGGTCAGCTAAACAATGCTCTATGAATTTAAGGCAGCCATAAGCAACAAAATTTAGACGCACCCAAGAACATAAGAGAAACTTTCCTGGGTGTGGGGAGGCAGGCTTGGGTGCCTTAGCCATGAACCGTCTGCCGCACAGCAGAGGCAATCACTGCTGGGCGTGGTGCTCTCTGTGGTTTGACCCACCTCTACTTTTAACCAGCTGCAGAGACAAAAGCCAGCAATACCTTTTTCTGCGGGAAGGCTGCCAGCCTCATTCAGGTGACTGGCCGGTGCACTCAAA... | CCGATATGGGATAAGAAAGAGGAGAATCAAAATCATGGGTCAGCTAAACAATGCTCTATGAATTTAAGGCAGCCATAAGCAACAAAATTTAGACGCACCCAAGAACATAAGAGAAACTTTCCTGGGTGTGGGGAGGCAGGCTTGGGTGCCTTAGCCATGAACCGTCTGCCGCACAGCAGAGGCAATCACTGCTGGGCGTGGTGCTCTCTGTGGTTTGACCCACCTCTACTTTTAACCAGCTGCAGAGACAAAAGCCAGCAATACCTTTTTCTGCGGGAAGGCTGCCAGCCTCATTCAGGTGACTGGCCGGTGCACTCAAA... |
Task1_train_19245 | The gene ATP7B (ATPase copper transporting beta), on Chromosome 13, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Wilson disease | GCACCCAAGAACATAAGAGAAACTTTCCTGGGTGTGGGGAGGCAGGCTTGGGTGCCTTAGCCATGAACCGTCTGCCGCACAGCAGAGGCAATCACTGCTGGGCGTGGTGCTCTCTGTGGTTTGACCCACCTCTACTTTTAACCAGCTGCAGAGACAAAAGCCAGCAATACCTTTTTCTGCGGGAAGGCTGCCAGCCTCATTCAGGTGACTGGCCGGTGCACTCAAAGGGCGCTCACTGTGGGCCAGGATGCCTTCCACGTTGCTGACTTTGCACCCAATTCCACAGCCTGGCACTGCCTGGAAGTCCGTGCAGTATCCCA... | GCACCCAAGAACATAAGAGAAACTTTCCTGGGTGTGGGGAGGCAGGCTTGGGTGCCTTAGCCATGAACCGTCTGCCGCACAGCAGAGGCAATCACTGCTGGGCGTGGTGCTCTCTGTGGTTTGACCCACCTCTACTTTTAACCAGCTGCAGAGACAAAAGCCAGCAATACCTTTTTCTGCGGGAAGGCTGCCAGCCTCATTCAGGTGACTGGCCGGTGCACTCAAAGGGCGCTCACTGTGGGCCAGGATGCCTTCCACGTTGCTGACTTTGCACCCAATTCCACAGCCTGGCACTGCCTGGAAGTCCGTGCAGTATCCCA... |
Task1_train_19246 | The gene ATP7B (ATPase copper transporting beta) on Chromosome 13 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Wilson disease | AACATAAGAGAAACTTTCCTGGGTGTGGGGAGGCAGGCTTGGGTGCCTTAGCCATGAACCGTCTGCCGCACAGCAGAGGCAATCACTGCTGGGCGTGGTGCTCTCTGTGGTTTGACCCACCTCTACTTTTAACCAGCTGCAGAGACAAAAGCCAGCAATACCTTTTTCTGCGGGAAGGCTGCCAGCCTCATTCAGGTGACTGGCCGGTGCACTCAAAGGGCGCTCACTGTGGGCCAGGATGCCTTCCACGTTGCTGACTTTGCACCCAATTCCACAGCCTGGCACTGCCTGGAAGTCCGTGCAGTATCCCAAGGTCTCTG... | AACATAAGAGAAACTTTCCTGGGTGTGGGGAGGCAGGCTTGGGTGCCTTAGCCATGAACCGTCTGCCGCACAGCAGAGGCAATCACTGCTGGGCGTGGTGCTCTCTGTGGTTTGACCCACCTCTACTTTTAACCAGCTGCAGAGACAAAAGCCAGCAATACCTTTTTCTGCGGGAAGGCTGCCAGCCTCATTCAGGTGACTGGCCGGTGCACTCAAAGGGCGCTCACTGTGGGCCAGGATGCCTTCCACGTTGCTGACTTTGCACCCAATTCCACAGCCTGGCACTGCCTGGAAGTCCGTGCAGTATCCCAAGGTCTCTG... |
Task1_train_19247 | A variant has been detected on Chromosome 13 in ATP7B (ATPase copper transporting beta). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Wilson disease | TCTTGTCAAACATCACAGTCTTTATCTGCCAAAAACAACCACAACTCACTGACCACAATACAGATGGAGGGGCTTCCATAGTCACACTCCTGAGGCAGAACTTCACCCAACCTGCCTCAGACAGGAAACAAGACACCTGCACAGCTTCCTAACGTGATCCTCTGTCGTTCAATCTCAGGGTTCAACAACTCCCACTGCAAAGAAACTGTTTCCCTATGTGTCCAGTCAAACCAGCCACACTGAGGCTTGACCTTGACCAGGCAAAGCCAGAAACCCTCAGTCGGCTGTACAGGAGATGGCACAGCACTGTCCCCCAGACA... | TCTTGTCAAACATCACAGTCTTTATCTGCCAAAAACAACCACAACTCACTGACCACAATACAGATGGAGGGGCTTCCATAGTCACACTCCTGAGGCAGAACTTCACCCAACCTGCCTCAGACAGGAAACAAGACACCTGCACAGCTTCCTAACGTGATCCTCTGTCGTTCAATCTCAGGGTTCAACAACTCCCACTGCAAAGAAACTGTTTCCCTATGTGTCCAGTCAAACCAGCCACACTGAGGCTTGACCTTGACCAGGCAAAGCCAGAAACCCTCAGTCGGCTGTACAGGAGATGGCACAGCACTGTCCCCCAGACA... |
Task1_train_19248 | This variant impacts the gene ATP7B (ATPase copper transporting beta) on Chromosome 13. Is the change likely to result in a pathogenic outcome? | Pathogenic; Wilson disease | AAAACAACCACAACTCACTGACCACAATACAGATGGAGGGGCTTCCATAGTCACACTCCTGAGGCAGAACTTCACCCAACCTGCCTCAGACAGGAAACAAGACACCTGCACAGCTTCCTAACGTGATCCTCTGTCGTTCAATCTCAGGGTTCAACAACTCCCACTGCAAAGAAACTGTTTCCCTATGTGTCCAGTCAAACCAGCCACACTGAGGCTTGACCTTGACCAGGCAAAGCCAGAAACCCTCAGTCGGCTGTACAGGAGATGGCACAGCACTGTCCCCCAGACAGTGACACCATCCACATACTCCCCCACATCAG... | AAAACAACCACAACTCACTGACCACAATACAGATGGAGGGGCTTCCATAGTCACACTCCTGAGGCAGAACTTCACCCAACCTGCCTCAGACAGGAAACAAGACACCTGCACAGCTTCCTAACGTGATCCTCTGTCGTTCAATCTCAGGGTTCAACAACTCCCACTGCAAAGAAACTGTTTCCCTATGTGTCCAGTCAAACCAGCCACACTGAGGCTTGACCTTGACCAGGCAAAGCCAGAAACCCTCAGTCGGCTGTACAGGAGATGGCACAGCACTGTCCCCCAGACAGTGACACCATCCACATACTCCCCCACATCAG... |
Task1_train_19249 | This genomic variant is located on Chromosome 13, within the ATP7B (ATPase copper transporting beta) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Wilson disease | AACTCACTGACCACAATACAGATGGAGGGGCTTCCATAGTCACACTCCTGAGGCAGAACTTCACCCAACCTGCCTCAGACAGGAAACAAGACACCTGCACAGCTTCCTAACGTGATCCTCTGTCGTTCAATCTCAGGGTTCAACAACTCCCACTGCAAAGAAACTGTTTCCCTATGTGTCCAGTCAAACCAGCCACACTGAGGCTTGACCTTGACCAGGCAAAGCCAGAAACCCTCAGTCGGCTGTACAGGAGATGGCACAGCACTGTCCCCCAGACAGTGACACCATCCACATACTCCCCCACATCAGGTCAGGAGTCA... | AACTCACTGACCACAATACAGATGGAGGGGCTTCCATAGTCACACTCCTGAGGCAGAACTTCACCCAACCTGCCTCAGACAGGAAACAAGACACCTGCACAGCTTCCTAACGTGATCCTCTGTCGTTCAATCTCAGGGTTCAACAACTCCCACTGCAAAGAAACTGTTTCCCTATGTGTCCAGTCAAACCAGCCACACTGAGGCTTGACCTTGACCAGGCAAAGCCAGAAACCCTCAGTCGGCTGTACAGGAGATGGCACAGCACTGTCCCCCAGACAGTGACACCATCCACATACTCCCCCACATCAGGTCAGGAGTCA... |
Task1_train_19250 | The following genetic variant occurs in ATP7B (ATPase copper transporting beta) on Chromosome 13. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; ATP7B-related disorder | AACTCACTGACCACAATACAGATGGAGGGGCTTCCATAGTCACACTCCTGAGGCAGAACTTCACCCAACCTGCCTCAGACAGGAAACAAGACACCTGCACAGCTTCCTAACGTGATCCTCTGTCGTTCAATCTCAGGGTTCAACAACTCCCACTGCAAAGAAACTGTTTCCCTATGTGTCCAGTCAAACCAGCCACACTGAGGCTTGACCTTGACCAGGCAAAGCCAGAAACCCTCAGTCGGCTGTACAGGAGATGGCACAGCACTGTCCCCCAGACAGTGACACCATCCACATACTCCCCCACATCAGGTCAGGAGTCA... | AACTCACTGACCACAATACAGATGGAGGGGCTTCCATAGTCACACTCCTGAGGCAGAACTTCACCCAACCTGCCTCAGACAGGAAACAAGACACCTGCACAGCTTCCTAACGTGATCCTCTGTCGTTCAATCTCAGGGTTCAACAACTCCCACTGCAAAGAAACTGTTTCCCTATGTGTCCAGTCAAACCAGCCACACTGAGGCTTGACCTTGACCAGGCAAAGCCAGAAACCCTCAGTCGGCTGTACAGGAGATGGCACAGCACTGTCCCCCAGACAGTGACACCATCCACATACTCCCCCACATCAGGTCAGGAGTCA... |
Task1_train_19251 | A variant was discovered on Chromosome 13, affecting ATP7B (ATPase copper transporting beta). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Inborn genetic diseases | ACTTCACCCAACCTGCCTCAGACAGGAAACAAGACACCTGCACAGCTTCCTAACGTGATCCTCTGTCGTTCAATCTCAGGGTTCAACAACTCCCACTGCAAAGAAACTGTTTCCCTATGTGTCCAGTCAAACCAGCCACACTGAGGCTTGACCTTGACCAGGCAAAGCCAGAAACCCTCAGTCGGCTGTACAGGAGATGGCACAGCACTGTCCCCCAGACAGTGACACCATCCACATACTCCCCCACATCAGGTCAGGAGTCAGGACCCTGAGGGACACCTGCCTCCCTGTCCACTGCCATCCGCCGAGCCCAACCTCAG... | ACTTCACCCAACCTGCCTCAGACAGGAAACAAGACACCTGCACAGCTTCCTAACGTGATCCTCTGTCGTTCAATCTCAGGGTTCAACAACTCCCACTGCAAAGAAACTGTTTCCCTATGTGTCCAGTCAAACCAGCCACACTGAGGCTTGACCTTGACCAGGCAAAGCCAGAAACCCTCAGTCGGCTGTACAGGAGATGGCACAGCACTGTCCCCCAGACAGTGACACCATCCACATACTCCCCCACATCAGGTCAGGAGTCAGGACCCTGAGGGACACCTGCCTCCCTGTCCACTGCCATCCGCCGAGCCCAACCTCAG... |
Task1_train_19252 | Here is a variant affecting ATP7B (ATPase copper transporting beta) on Chromosome 13. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Wilson disease | ACTTCACCCAACCTGCCTCAGACAGGAAACAAGACACCTGCACAGCTTCCTAACGTGATCCTCTGTCGTTCAATCTCAGGGTTCAACAACTCCCACTGCAAAGAAACTGTTTCCCTATGTGTCCAGTCAAACCAGCCACACTGAGGCTTGACCTTGACCAGGCAAAGCCAGAAACCCTCAGTCGGCTGTACAGGAGATGGCACAGCACTGTCCCCCAGACAGTGACACCATCCACATACTCCCCCACATCAGGTCAGGAGTCAGGACCCTGAGGGACACCTGCCTCCCTGTCCACTGCCATCCGCCGAGCCCAACCTCAG... | ACTTCACCCAACCTGCCTCAGACAGGAAACAAGACACCTGCACAGCTTCCTAACGTGATCCTCTGTCGTTCAATCTCAGGGTTCAACAACTCCCACTGCAAAGAAACTGTTTCCCTATGTGTCCAGTCAAACCAGCCACACTGAGGCTTGACCTTGACCAGGCAAAGCCAGAAACCCTCAGTCGGCTGTACAGGAGATGGCACAGCACTGTCCCCCAGACAGTGACACCATCCACATACTCCCCCACATCAGGTCAGGAGTCAGGACCCTGAGGGACACCTGCCTCCCTGTCCACTGCCATCCGCCGAGCCCAACCTCAG... |
Task1_train_19253 | A change on Chromosome 13 affects gene ATP7B (ATPase copper transporting beta). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Wilson disease | GGAAACAAGACACCTGCACAGCTTCCTAACGTGATCCTCTGTCGTTCAATCTCAGGGTTCAACAACTCCCACTGCAAAGAAACTGTTTCCCTATGTGTCCAGTCAAACCAGCCACACTGAGGCTTGACCTTGACCAGGCAAAGCCAGAAACCCTCAGTCGGCTGTACAGGAGATGGCACAGCACTGTCCCCCAGACAGTGACACCATCCACATACTCCCCCACATCAGGTCAGGAGTCAGGACCCTGAGGGACACCTGCCTCCCTGTCCACTGCCATCCGCCGAGCCCAACCTCAGCTTCCTTTTGCCTGCCTAAGTGCA... | GGAAACAAGACACCTGCACAGCTTCCTAACGTGATCCTCTGTCGTTCAATCTCAGGGTTCAACAACTCCCACTGCAAAGAAACTGTTTCCCTATGTGTCCAGTCAAACCAGCCACACTGAGGCTTGACCTTGACCAGGCAAAGCCAGAAACCCTCAGTCGGCTGTACAGGAGATGGCACAGCACTGTCCCCCAGACAGTGACACCATCCACATACTCCCCCACATCAGGTCAGGAGTCAGGACCCTGAGGGACACCTGCCTCCCTGTCCACTGCCATCCGCCGAGCCCAACCTCAGCTTCCTTTTGCCTGCCTAAGTGCA... |
Task1_train_19254 | This genomic variant is located on Chromosome 13, within the ATP7B (ATPase copper transporting beta) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Wilson disease | TATTTAGGTAGAGGGATATATTAAGATTTTTAGACATAAAGATTATGTAATCTTTTTTAAAAATACACTAATTCTTGTCAAAATCACACCTGGCATTCTGATAGGACTGGGTGGACTTCTGGAAGTTACCATGAGCCCTTCTCTACAATGACTTTTGTACAGCAGAGAGATGACAGTATCTTAAAGGAACATGCAGTACCTCATTTGCCAGCATCCTCCCTGATATTGCAGATAAAAACAAAAGAAGCCAAAGTAAGATGGAAAGGCATGGAACAGCAGAAAGCCACAGATTCCAACTTGTTTAGGACTGAGTCTTCCCA... | TATTTAGGTAGAGGGATATATTAAGATTTTTAGACATAAAGATTATGTAATCTTTTTTAAAAATACACTAATTCTTGTCAAAATCACACCTGGCATTCTGATAGGACTGGGTGGACTTCTGGAAGTTACCATGAGCCCTTCTCTACAATGACTTTTGTACAGCAGAGAGATGACAGTATCTTAAAGGAACATGCAGTACCTCATTTGCCAGCATCCTCCCTGATATTGCAGATAAAAACAAAAGAAGCCAAAGTAAGATGGAAAGGCATGGAACAGCAGAAAGCCACAGATTCCAACTTGTTTAGGACTGAGTCTTCCCA... |
Task1_train_19255 | Here is a variant affecting ATP7B (ATPase copper transporting beta) on Chromosome 13. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Wilson disease | GAGGGATATATTAAGATTTTTAGACATAAAGATTATGTAATCTTTTTTAAAAATACACTAATTCTTGTCAAAATCACACCTGGCATTCTGATAGGACTGGGTGGACTTCTGGAAGTTACCATGAGCCCTTCTCTACAATGACTTTTGTACAGCAGAGAGATGACAGTATCTTAAAGGAACATGCAGTACCTCATTTGCCAGCATCCTCCCTGATATTGCAGATAAAAACAAAAGAAGCCAAAGTAAGATGGAAAGGCATGGAACAGCAGAAAGCCACAGATTCCAACTTGTTTAGGACTGAGTCTTCCCATGGCCATATG... | GAGGGATATATTAAGATTTTTAGACATAAAGATTATGTAATCTTTTTTAAAAATACACTAATTCTTGTCAAAATCACACCTGGCATTCTGATAGGACTGGGTGGACTTCTGGAAGTTACCATGAGCCCTTCTCTACAATGACTTTTGTACAGCAGAGAGATGACAGTATCTTAAAGGAACATGCAGTACCTCATTTGCCAGCATCCTCCCTGATATTGCAGATAAAAACAAAAGAAGCCAAAGTAAGATGGAAAGGCATGGAACAGCAGAAAGCCACAGATTCCAACTTGTTTAGGACTGAGTCTTCCCATGGCCATATG... |
Task1_train_19256 | Here is a mutation in ATP7B (ATPase copper transporting beta) on Chromosome 13. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Wilson disease | ACACTAATTCTTGTCAAAATCACACCTGGCATTCTGATAGGACTGGGTGGACTTCTGGAAGTTACCATGAGCCCTTCTCTACAATGACTTTTGTACAGCAGAGAGATGACAGTATCTTAAAGGAACATGCAGTACCTCATTTGCCAGCATCCTCCCTGATATTGCAGATAAAAACAAAAGAAGCCAAAGTAAGATGGAAAGGCATGGAACAGCAGAAAGCCACAGATTCCAACTTGTTTAGGACTGAGTCTTCCCATGGCCATATGCCAACGCACTGCTTTCCCGAAAAAGCCGAAATTATAGGCAGTCAGGTGCCATGG... | ACACTAATTCTTGTCAAAATCACACCTGGCATTCTGATAGGACTGGGTGGACTTCTGGAAGTTACCATGAGCCCTTCTCTACAATGACTTTTGTACAGCAGAGAGATGACAGTATCTTAAAGGAACATGCAGTACCTCATTTGCCAGCATCCTCCCTGATATTGCAGATAAAAACAAAAGAAGCCAAAGTAAGATGGAAAGGCATGGAACAGCAGAAAGCCACAGATTCCAACTTGTTTAGGACTGAGTCTTCCCATGGCCATATGCCAACGCACTGCTTTCCCGAAAAAGCCGAAATTATAGGCAGTCAGGTGCCATGG... |
Task1_train_19257 | This variant affects gene ATP7B (ATPase copper transporting beta) located on Chromosome 13. Evaluate its biological effect and specify any disease association. | Pathogenic; Inborn genetic diseases | TCTTGTCAAAATCACACCTGGCATTCTGATAGGACTGGGTGGACTTCTGGAAGTTACCATGAGCCCTTCTCTACAATGACTTTTGTACAGCAGAGAGATGACAGTATCTTAAAGGAACATGCAGTACCTCATTTGCCAGCATCCTCCCTGATATTGCAGATAAAAACAAAAGAAGCCAAAGTAAGATGGAAAGGCATGGAACAGCAGAAAGCCACAGATTCCAACTTGTTTAGGACTGAGTCTTCCCATGGCCATATGCCAACGCACTGCTTTCCCGAAAAAGCCGAAATTATAGGCAGTCAGGTGCCATGGATAGCCAC... | TCTTGTCAAAATCACACCTGGCATTCTGATAGGACTGGGTGGACTTCTGGAAGTTACCATGAGCCCTTCTCTACAATGACTTTTGTACAGCAGAGAGATGACAGTATCTTAAAGGAACATGCAGTACCTCATTTGCCAGCATCCTCCCTGATATTGCAGATAAAAACAAAAGAAGCCAAAGTAAGATGGAAAGGCATGGAACAGCAGAAAGCCACAGATTCCAACTTGTTTAGGACTGAGTCTTCCCATGGCCATATGCCAACGCACTGCTTTCCCGAAAAAGCCGAAATTATAGGCAGTCAGGTGCCATGGATAGCCAC... |
Task1_train_19258 | With a mutation on Chromosome 13 in gene ATP7B (ATPase copper transporting beta), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Wilson disease | TCTTGTCAAAATCACACCTGGCATTCTGATAGGACTGGGTGGACTTCTGGAAGTTACCATGAGCCCTTCTCTACAATGACTTTTGTACAGCAGAGAGATGACAGTATCTTAAAGGAACATGCAGTACCTCATTTGCCAGCATCCTCCCTGATATTGCAGATAAAAACAAAAGAAGCCAAAGTAAGATGGAAAGGCATGGAACAGCAGAAAGCCACAGATTCCAACTTGTTTAGGACTGAGTCTTCCCATGGCCATATGCCAACGCACTGCTTTCCCGAAAAAGCCGAAATTATAGGCAGTCAGGTGCCATGGATAGCCAC... | TCTTGTCAAAATCACACCTGGCATTCTGATAGGACTGGGTGGACTTCTGGAAGTTACCATGAGCCCTTCTCTACAATGACTTTTGTACAGCAGAGAGATGACAGTATCTTAAAGGAACATGCAGTACCTCATTTGCCAGCATCCTCCCTGATATTGCAGATAAAAACAAAAGAAGCCAAAGTAAGATGGAAAGGCATGGAACAGCAGAAAGCCACAGATTCCAACTTGTTTAGGACTGAGTCTTCCCATGGCCATATGCCAACGCACTGCTTTCCCGAAAAAGCCGAAATTATAGGCAGTCAGGTGCCATGGATAGCCAC... |
Task1_train_19259 | An alteration has been detected in ATP7B (ATPase copper transporting beta) on Chromosome 13. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Wilson disease | CCCAGGTTGGAGTGCAGTGGCTATTCACAGGCACGATCATAGCACACTACAGCCTCAAACTCCTGGACTCAAATGATCCTCTGCCTTAGCCTCCCAAGTAGCTGAGTCTACAGGTGCATCACCACACCCAGTATGGTTTCTCATTCTATGGCTCTATGGTATAACAAGCACTAGACTGGGCTAGGAATAAGATAAGGTAAAAACATTGTTCCGCTCATTGTGCCATTACCAAATACTGTTCTAAGTGTGCCATTAGCTTTTTAAGTACATTATCAAGGTTTCAACCTCAGTGCTACTGACATTTGGGGCCAGATAACTCT... | CCCAGGTTGGAGTGCAGTGGCTATTCACAGGCACGATCATAGCACACTACAGCCTCAAACTCCTGGACTCAAATGATCCTCTGCCTTAGCCTCCCAAGTAGCTGAGTCTACAGGTGCATCACCACACCCAGTATGGTTTCTCATTCTATGGCTCTATGGTATAACAAGCACTAGACTGGGCTAGGAATAAGATAAGGTAAAAACATTGTTCCGCTCATTGTGCCATTACCAAATACTGTTCTAAGTGTGCCATTAGCTTTTTAAGTACATTATCAAGGTTTCAACCTCAGTGCTACTGACATTTGGGGCCAGATAACTCT... |
Task1_train_19260 | The variant affects gene ATP7B (ATPase copper transporting beta), which is on Chromosome 13. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Wilson disease | CGATCATAGCACACTACAGCCTCAAACTCCTGGACTCAAATGATCCTCTGCCTTAGCCTCCCAAGTAGCTGAGTCTACAGGTGCATCACCACACCCAGTATGGTTTCTCATTCTATGGCTCTATGGTATAACAAGCACTAGACTGGGCTAGGAATAAGATAAGGTAAAAACATTGTTCCGCTCATTGTGCCATTACCAAATACTGTTCTAAGTGTGCCATTAGCTTTTTAAGTACATTATCAAGGTTTCAACCTCAGTGCTACTGACATTTGGGGCCAGATAACTCTTTGTTGTAGGGCCTGTGATGTGCCTTGCAGGAT... | CGATCATAGCACACTACAGCCTCAAACTCCTGGACTCAAATGATCCTCTGCCTTAGCCTCCCAAGTAGCTGAGTCTACAGGTGCATCACCACACCCAGTATGGTTTCTCATTCTATGGCTCTATGGTATAACAAGCACTAGACTGGGCTAGGAATAAGATAAGGTAAAAACATTGTTCCGCTCATTGTGCCATTACCAAATACTGTTCTAAGTGTGCCATTAGCTTTTTAAGTACATTATCAAGGTTTCAACCTCAGTGCTACTGACATTTGGGGCCAGATAACTCTTTGTTGTAGGGCCTGTGATGTGCCTTGCAGGAT... |
Task1_train_19261 | This mutation is located in gene ATP7B (ATPase copper transporting beta) on Chromosome 13. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not specified | CGATCATAGCACACTACAGCCTCAAACTCCTGGACTCAAATGATCCTCTGCCTTAGCCTCCCAAGTAGCTGAGTCTACAGGTGCATCACCACACCCAGTATGGTTTCTCATTCTATGGCTCTATGGTATAACAAGCACTAGACTGGGCTAGGAATAAGATAAGGTAAAAACATTGTTCCGCTCATTGTGCCATTACCAAATACTGTTCTAAGTGTGCCATTAGCTTTTTAAGTACATTATCAAGGTTTCAACCTCAGTGCTACTGACATTTGGGGCCAGATAACTCTTTGTTGTAGGGCCTGTGATGTGCCTTGCAGGAT... | CGATCATAGCACACTACAGCCTCAAACTCCTGGACTCAAATGATCCTCTGCCTTAGCCTCCCAAGTAGCTGAGTCTACAGGTGCATCACCACACCCAGTATGGTTTCTCATTCTATGGCTCTATGGTATAACAAGCACTAGACTGGGCTAGGAATAAGATAAGGTAAAAACATTGTTCCGCTCATTGTGCCATTACCAAATACTGTTCTAAGTGTGCCATTAGCTTTTTAAGTACATTATCAAGGTTTCAACCTCAGTGCTACTGACATTTGGGGCCAGATAACTCTTTGTTGTAGGGCCTGTGATGTGCCTTGCAGGAT... |
Task1_train_19262 | This alteration occurs within gene ATP7B (ATPase copper transporting beta) located on Chromosome 13. Is it associated with a disease or is it a benign variant? | Pathogenic; Wilson disease | AATGATCCTCTGCCTTAGCCTCCCAAGTAGCTGAGTCTACAGGTGCATCACCACACCCAGTATGGTTTCTCATTCTATGGCTCTATGGTATAACAAGCACTAGACTGGGCTAGGAATAAGATAAGGTAAAAACATTGTTCCGCTCATTGTGCCATTACCAAATACTGTTCTAAGTGTGCCATTAGCTTTTTAAGTACATTATCAAGGTTTCAACCTCAGTGCTACTGACATTTGGGGCCAGATAACTCTTTGTTGTAGGGCCTGTGATGTGCCTTGCAGGATGTTTAGCAGCATCCCCCCAGTCACAAACACCGAAAATG... | AATGATCCTCTGCCTTAGCCTCCCAAGTAGCTGAGTCTACAGGTGCATCACCACACCCAGTATGGTTTCTCATTCTATGGCTCTATGGTATAACAAGCACTAGACTGGGCTAGGAATAAGATAAGGTAAAAACATTGTTCCGCTCATTGTGCCATTACCAAATACTGTTCTAAGTGTGCCATTAGCTTTTTAAGTACATTATCAAGGTTTCAACCTCAGTGCTACTGACATTTGGGGCCAGATAACTCTTTGTTGTAGGGCCTGTGATGTGCCTTGCAGGATGTTTAGCAGCATCCCCCCAGTCACAAACACCGAAAATG... |
Task1_train_19263 | A change on Chromosome 13 affects gene ATP7B (ATPase copper transporting beta). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Wilson disease | AGGGCCAGCTGCACCAGCCCTGCAGACCCCATGGGGAAGCAAGGGGTCTGTCTCAGCCTTCACGCCCAGGCCTCCAGGACACAGCTAGGGCAGGCTGGCTCCATCAACAGTGTGATACATGGACAAGGGCACACAAGGGAGGGGCAAGGCACAACGCCTCTGAAAATGGGAGTGGTTAGAGTCTGCATGACATCGGAGGATAAGAATCAGAGACACCAAAAACCACTGAGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAG... | AGGGCCAGCTGCACCAGCCCTGCAGACCCCATGGGGAAGCAAGGGGTCTGTCTCAGCCTTCACGCCCAGGCCTCCAGGACACAGCTAGGGCAGGCTGGCTCCATCAACAGTGTGATACATGGACAAGGGCACACAAGGGAGGGGCAAGGCACAACGCCTCTGAAAATGGGAGTGGTTAGAGTCTGCATGACATCGGAGGATAAGAATCAGAGACACCAAAAACCACTGAGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAG... |
Task1_train_19264 | This variant affects gene ATP7B (ATPase copper transporting beta) located on Chromosome 13. Evaluate its biological effect and specify any disease association. | Pathogenic; ATP7B-related disorder | CCTGCAGACCCCATGGGGAAGCAAGGGGTCTGTCTCAGCCTTCACGCCCAGGCCTCCAGGACACAGCTAGGGCAGGCTGGCTCCATCAACAGTGTGATACATGGACAAGGGCACACAAGGGAGGGGCAAGGCACAACGCCTCTGAAAATGGGAGTGGTTAGAGTCTGCATGACATCGGAGGATAAGAATCAGAGACACCAAAAACCACTGAGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAGGCTAGCTGTGTAGGCTGA... | CCTGCAGACCCCATGGGGAAGCAAGGGGTCTGTCTCAGCCTTCACGCCCAGGCCTCCAGGACACAGCTAGGGCAGGCTGGCTCCATCAACAGTGTGATACATGGACAAGGGCACACAAGGGAGGGGCAAGGCACAACGCCTCTGAAAATGGGAGTGGTTAGAGTCTGCATGACATCGGAGGATAAGAATCAGAGACACCAAAAACCACTGAGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAGGCTAGCTGTGTAGGCTGA... |
Task1_train_19265 | This mutation is located in gene ATP7B (ATPase copper transporting beta) on Chromosome 13. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Inborn genetic diseases | CCTGCAGACCCCATGGGGAAGCAAGGGGTCTGTCTCAGCCTTCACGCCCAGGCCTCCAGGACACAGCTAGGGCAGGCTGGCTCCATCAACAGTGTGATACATGGACAAGGGCACACAAGGGAGGGGCAAGGCACAACGCCTCTGAAAATGGGAGTGGTTAGAGTCTGCATGACATCGGAGGATAAGAATCAGAGACACCAAAAACCACTGAGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAGGCTAGCTGTGTAGGCTGA... | CCTGCAGACCCCATGGGGAAGCAAGGGGTCTGTCTCAGCCTTCACGCCCAGGCCTCCAGGACACAGCTAGGGCAGGCTGGCTCCATCAACAGTGTGATACATGGACAAGGGCACACAAGGGAGGGGCAAGGCACAACGCCTCTGAAAATGGGAGTGGTTAGAGTCTGCATGACATCGGAGGATAAGAATCAGAGACACCAAAAACCACTGAGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAGGCTAGCTGTGTAGGCTGA... |
Task1_train_19266 | This variant affects gene ATP7B (ATPase copper transporting beta) located on Chromosome 13. Evaluate its biological effect and specify any disease association. | Pathogenic; Wilson disease | CCTGCAGACCCCATGGGGAAGCAAGGGGTCTGTCTCAGCCTTCACGCCCAGGCCTCCAGGACACAGCTAGGGCAGGCTGGCTCCATCAACAGTGTGATACATGGACAAGGGCACACAAGGGAGGGGCAAGGCACAACGCCTCTGAAAATGGGAGTGGTTAGAGTCTGCATGACATCGGAGGATAAGAATCAGAGACACCAAAAACCACTGAGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAGGCTAGCTGTGTAGGCTGA... | CCTGCAGACCCCATGGGGAAGCAAGGGGTCTGTCTCAGCCTTCACGCCCAGGCCTCCAGGACACAGCTAGGGCAGGCTGGCTCCATCAACAGTGTGATACATGGACAAGGGCACACAAGGGAGGGGCAAGGCACAACGCCTCTGAAAATGGGAGTGGTTAGAGTCTGCATGACATCGGAGGATAAGAATCAGAGACACCAAAAACCACTGAGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAGGCTAGCTGTGTAGGCTGA... |
Task1_train_19267 | This alteration occurs within gene ATP7B (ATPase copper transporting beta) located on Chromosome 13. Is it associated with a disease or is it a benign variant? | Pathogenic; Wilson disease | CCTGCAGACCCCATGGGGAAGCAAGGGGTCTGTCTCAGCCTTCACGCCCAGGCCTCCAGGACACAGCTAGGGCAGGCTGGCTCCATCAACAGTGTGATACATGGACAAGGGCACACAAGGGAGGGGCAAGGCACAACGCCTCTGAAAATGGGAGTGGTTAGAGTCTGCATGACATCGGAGGATAAGAATCAGAGACACCAAAAACCACTGAGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAGGCTAGCTGTGTAGGCTGA... | CCTGCAGACCCCATGGGGAAGCAAGGGGTCTGTCTCAGCCTTCACGCCCAGGCCTCCAGGACACAGCTAGGGCAGGCTGGCTCCATCAACAGTGTGATACATGGACAAGGGCACACAAGGGAGGGGCAAGGCACAACGCCTCTGAAAATGGGAGTGGTTAGAGTCTGCATGACATCGGAGGATAAGAATCAGAGACACCAAAAACCACTGAGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAGGCTAGCTGTGTAGGCTGA... |
Task1_train_19268 | Gene ATP7B (ATPase copper transporting beta) on Chromosome 13 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Inborn genetic diseases | CTGCAGACCCCATGGGGAAGCAAGGGGTCTGTCTCAGCCTTCACGCCCAGGCCTCCAGGACACAGCTAGGGCAGGCTGGCTCCATCAACAGTGTGATACATGGACAAGGGCACACAAGGGAGGGGCAAGGCACAACGCCTCTGAAAATGGGAGTGGTTAGAGTCTGCATGACATCGGAGGATAAGAATCAGAGACACCAAAAACCACTGAGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAGGCTAGCTGTGTAGGCTGAG... | CTGCAGACCCCATGGGGAAGCAAGGGGTCTGTCTCAGCCTTCACGCCCAGGCCTCCAGGACACAGCTAGGGCAGGCTGGCTCCATCAACAGTGTGATACATGGACAAGGGCACACAAGGGAGGGGCAAGGCACAACGCCTCTGAAAATGGGAGTGGTTAGAGTCTGCATGACATCGGAGGATAAGAATCAGAGACACCAAAAACCACTGAGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAGGCTAGCTGTGTAGGCTGAG... |
Task1_train_19269 | A sequence alteration has been identified in ATP7B (ATPase copper transporting beta) on Chromosome 13. Is it disease-inducing or harmless? | Pathogenic; Wilson disease | CTGCAGACCCCATGGGGAAGCAAGGGGTCTGTCTCAGCCTTCACGCCCAGGCCTCCAGGACACAGCTAGGGCAGGCTGGCTCCATCAACAGTGTGATACATGGACAAGGGCACACAAGGGAGGGGCAAGGCACAACGCCTCTGAAAATGGGAGTGGTTAGAGTCTGCATGACATCGGAGGATAAGAATCAGAGACACCAAAAACCACTGAGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAGGCTAGCTGTGTAGGCTGAG... | CTGCAGACCCCATGGGGAAGCAAGGGGTCTGTCTCAGCCTTCACGCCCAGGCCTCCAGGACACAGCTAGGGCAGGCTGGCTCCATCAACAGTGTGATACATGGACAAGGGCACACAAGGGAGGGGCAAGGCACAACGCCTCTGAAAATGGGAGTGGTTAGAGTCTGCATGACATCGGAGGATAAGAATCAGAGACACCAAAAACCACTGAGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAGGCTAGCTGTGTAGGCTGAG... |
Task1_train_19270 | A variant on Chromosome 13 in gene ATP7B (ATPase copper transporting beta) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Inborn genetic diseases | TCTGTCTCAGCCTTCACGCCCAGGCCTCCAGGACACAGCTAGGGCAGGCTGGCTCCATCAACAGTGTGATACATGGACAAGGGCACACAAGGGAGGGGCAAGGCACAACGCCTCTGAAAATGGGAGTGGTTAGAGTCTGCATGACATCGGAGGATAAGAATCAGAGACACCAAAAACCACTGAGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAGGCTAGCTGTGTAGGCTGAGGGACAGGGAACTGGAGGGTTTCCATCT... | TCTGTCTCAGCCTTCACGCCCAGGCCTCCAGGACACAGCTAGGGCAGGCTGGCTCCATCAACAGTGTGATACATGGACAAGGGCACACAAGGGAGGGGCAAGGCACAACGCCTCTGAAAATGGGAGTGGTTAGAGTCTGCATGACATCGGAGGATAAGAATCAGAGACACCAAAAACCACTGAGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAGGCTAGCTGTGTAGGCTGAGGGACAGGGAACTGGAGGGTTTCCATCT... |
Task1_train_19271 | A variant affecting Chromosome 13, within the gene ATP7B (ATPase copper transporting beta), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Wilson disease | TCTGTCTCAGCCTTCACGCCCAGGCCTCCAGGACACAGCTAGGGCAGGCTGGCTCCATCAACAGTGTGATACATGGACAAGGGCACACAAGGGAGGGGCAAGGCACAACGCCTCTGAAAATGGGAGTGGTTAGAGTCTGCATGACATCGGAGGATAAGAATCAGAGACACCAAAAACCACTGAGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAGGCTAGCTGTGTAGGCTGAGGGACAGGGAACTGGAGGGTTTCCATCT... | TCTGTCTCAGCCTTCACGCCCAGGCCTCCAGGACACAGCTAGGGCAGGCTGGCTCCATCAACAGTGTGATACATGGACAAGGGCACACAAGGGAGGGGCAAGGCACAACGCCTCTGAAAATGGGAGTGGTTAGAGTCTGCATGACATCGGAGGATAAGAATCAGAGACACCAAAAACCACTGAGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAGGCTAGCTGTGTAGGCTGAGGGACAGGGAACTGGAGGGTTTCCATCT... |
Task1_train_19272 | This alteration occurs within gene ATP7B (ATPase copper transporting beta) located on Chromosome 13. Is it associated with a disease or is it a benign variant? | Pathogenic; Wilson disease | TTCACGCCCAGGCCTCCAGGACACAGCTAGGGCAGGCTGGCTCCATCAACAGTGTGATACATGGACAAGGGCACACAAGGGAGGGGCAAGGCACAACGCCTCTGAAAATGGGAGTGGTTAGAGTCTGCATGACATCGGAGGATAAGAATCAGAGACACCAAAAACCACTGAGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAGGCTAGCTGTGTAGGCTGAGGGACAGGGAACTGGAGGGTTTCCATCTGAACACTTCTCC... | TTCACGCCCAGGCCTCCAGGACACAGCTAGGGCAGGCTGGCTCCATCAACAGTGTGATACATGGACAAGGGCACACAAGGGAGGGGCAAGGCACAACGCCTCTGAAAATGGGAGTGGTTAGAGTCTGCATGACATCGGAGGATAAGAATCAGAGACACCAAAAACCACTGAGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAGGCTAGCTGTGTAGGCTGAGGGACAGGGAACTGGAGGGTTTCCATCTGAACACTTCTCC... |
Task1_train_19273 | A mutation in ATP7B (ATPase copper transporting beta), located on Chromosome 13, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Wilson disease | GGCACAACGCCTCTGAAAATGGGAGTGGTTAGAGTCTGCATGACATCGGAGGATAAGAATCAGAGACACCAAAAACCACTGAGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAGGCTAGCTGTGTAGGCTGAGGGACAGGGAACTGGAGGGTTTCCATCTGAACACTTCTCCTTCCAGTAGTCCAAAGCGAGACCACAGGCTAATAGAAAATGTGGTGGGACCAGGGAGAGATTTTAGGAATATGAAGGAGGGCTGAAATA... | GGCACAACGCCTCTGAAAATGGGAGTGGTTAGAGTCTGCATGACATCGGAGGATAAGAATCAGAGACACCAAAAACCACTGAGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAGGCTAGCTGTGTAGGCTGAGGGACAGGGAACTGGAGGGTTTCCATCTGAACACTTCTCCTTCCAGTAGTCCAAAGCGAGACCACAGGCTAATAGAAAATGTGGTGGGACCAGGGAGAGATTTTAGGAATATGAAGGAGGGCTGAAATA... |
Task1_train_19274 | This alteration occurs within gene ATP7B (ATPase copper transporting beta) located on Chromosome 13. Is it associated with a disease or is it a benign variant? | Pathogenic; Wilson disease | CACTGAGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAGGCTAGCTGTGTAGGCTGAGGGACAGGGAACTGGAGGGTTTCCATCTGAACACTTCTCCTTCCAGTAGTCCAAAGCGAGACCACAGGCTAATAGAAAATGTGGTGGGACCAGGGAGAGATTTTAGGAATATGAAGGAGGGCTGAAATAACCATTGCCTAGAATATAAAAAAGAAGCTAACCCCAAGGAAATACAGAAGCCTTAATTAGAAAAATTTCCATATTA... | CACTGAGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAGGCTAGCTGTGTAGGCTGAGGGACAGGGAACTGGAGGGTTTCCATCTGAACACTTCTCCTTCCAGTAGTCCAAAGCGAGACCACAGGCTAATAGAAAATGTGGTGGGACCAGGGAGAGATTTTAGGAATATGAAGGAGGGCTGAAATAACCATTGCCTAGAATATAAAAAAGAAGCTAACCCCAAGGAAATACAGAAGCCTTAATTAGAAAAATTTCCATATTA... |
Task1_train_19275 | This variant impacts the gene ATP7B (ATPase copper transporting beta) on Chromosome 13. Is the change likely to result in a pathogenic outcome? | Pathogenic; Wilson disease | AGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAGGCTAGCTGTGTAGGCTGAGGGACAGGGAACTGGAGGGTTTCCATCTGAACACTTCTCCTTCCAGTAGTCCAAAGCGAGACCACAGGCTAATAGAAAATGTGGTGGGACCAGGGAGAGATTTTAGGAATATGAAGGAGGGCTGAAATAACCATTGCCTAGAATATAAAAAAGAAGCTAACCCCAAGGAAATACAGAAGCCTTAATTAGAAAAATTTCCATATTATTAAA... | AGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAGGCTAGCTGTGTAGGCTGAGGGACAGGGAACTGGAGGGTTTCCATCTGAACACTTCTCCTTCCAGTAGTCCAAAGCGAGACCACAGGCTAATAGAAAATGTGGTGGGACCAGGGAGAGATTTTAGGAATATGAAGGAGGGCTGAAATAACCATTGCCTAGAATATAAAAAAGAAGCTAACCCCAAGGAAATACAGAAGCCTTAATTAGAAAAATTTCCATATTATTAAA... |
Task1_train_19276 | The following genetic variant occurs in ATP7B (ATPase copper transporting beta) on Chromosome 13. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Wilson disease | GAGATTAGTGACTAGAGCACCTTAATTATATGGAGGTTTCCTATTTCTTTAAGTCTGTCTCTATGCTGTGTATAATTAGTAATTCTAAACATGGTGTTCAGAGGAAGTGAGATTTGTTTACTGAAGGAGCAGCTCTTTTCTGAACCTGAAGCTGCTGTTACCTTTGCCAAGTGTTCCAGCCACCGGCCCAGGGCAATGAACACAAAGAGCATGGGGGGCGTGTCGAAGAATGTCACAGGGCTCCTCTCCGCCTTCTCAGCCACAGCAACCACCAGGATGACCAGAGAATAAACATAAGCAATGCTTGTGGCCAGGACGAT... | GAGATTAGTGACTAGAGCACCTTAATTATATGGAGGTTTCCTATTTCTTTAAGTCTGTCTCTATGCTGTGTATAATTAGTAATTCTAAACATGGTGTTCAGAGGAAGTGAGATTTGTTTACTGAAGGAGCAGCTCTTTTCTGAACCTGAAGCTGCTGTTACCTTTGCCAAGTGTTCCAGCCACCGGCCCAGGGCAATGAACACAAAGAGCATGGGGGGCGTGTCGAAGAATGTCACAGGGCTCCTCTCCGCCTTCTCAGCCACAGCAACCACCAGGATGACCAGAGAATAAACATAAGCAATGCTTGTGGCCAGGACGAT... |
Task1_train_19277 | Given this context: Chromosome 13, gene ATP7B (ATPase copper transporting beta) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Wilson disease | CTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACAAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCATACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGACCATGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACACCAACTCAAAAAAAAAAAGAAAGAAAGAAATCAGAAATGGTGACTAAGTTGTGTTCAAAAGCACCACATGGGACTCTCCT... | CTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACAAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCATACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGACCATGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACACCAACTCAAAAAAAAAAAGAAAGAAAGAAATCAGAAATGGTGACTAAGTTGTGTTCAAAAGCACCACATGGGACTCTCCT... |
Task1_train_19278 | Gene ALG11 (ALG11 alpha-1,2-mannosyltransferase), found on Chromosome 13, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; ALG11-congenital disorder of glycosylation | AGGTCATTTTGGAGCTTTAAAAATTTGACTGCCCCACTGGATTTTGGACTTGCATGGGCCCTGTAACCCCCTTGTTTTGGCCAATTTCTCCCATTTGGAACAGCTGTACTTACCCAATACCTGTACTCCCATTGTATCTGGGAAGTAACTAGCTTACTTTTGATTTTACAGGCTCATAGGCAGAAGGGACTTGCCTTGTCTCGGATGAGACTTTGGACTGTGGACATATGGGTTAATGCTGAAATGAGTTAAGACTTTGGGGGACTGTTGGGAAGGCATAATTGGTTTTGAAATGTGATGACGTGAGATTTGGAGGGGCC... | AGGTCATTTTGGAGCTTTAAAAATTTGACTGCCCCACTGGATTTTGGACTTGCATGGGCCCTGTAACCCCCTTGTTTTGGCCAATTTCTCCCATTTGGAACAGCTGTACTTACCCAATACCTGTACTCCCATTGTATCTGGGAAGTAACTAGCTTACTTTTGATTTTACAGGCTCATAGGCAGAAGGGACTTGCCTTGTCTCGGATGAGACTTTGGACTGTGGACATATGGGTTAATGCTGAAATGAGTTAAGACTTTGGGGGACTGTTGGGAAGGCATAATTGGTTTTGAAATGTGATGACGTGAGATTTGGAGGGGCC... |
Task1_train_19279 | Here is a genetic alteration in ALG11 (ALG11 alpha-1,2-mannosyltransferase) on Chromosome 13. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; ALG11-congenital disorder of glycosylation | ATCCTTTAGGCTTCCCCAGCATCCTGTGGGTGTCTTTATCAATGCGTAGCACACAGTTTTGCAGTTATTTGTTTTGCATGTCTGTTTTCTCCACTGGACTGAACTTCTGAAGATAAAGACTCTCTCTCATCTCCATACCCCCAAAACCTGGCATCTCATTACTAGATGCTTAATAAATTTGTTTTTTTTTTTTTTTTTCAGATGGAGTTTCATTGTTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACCACAACCTCCGCCTACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATT... | ATCCTTTAGGCTTCCCCAGCATCCTGTGGGTGTCTTTATCAATGCGTAGCACACAGTTTTGCAGTTATTTGTTTTGCATGTCTGTTTTCTCCACTGGACTGAACTTCTGAAGATAAAGACTCTCTCTCATCTCCATACCCCCAAAACCTGGCATCTCATTACTAGATGCTTAATAAATTTGTTTTTTTTTTTTTTTTTCAGATGGAGTTTCATTGTTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACCACAACCTCCGCCTACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATT... |
Task1_train_19280 | A variant affecting Chromosome 13, within the gene ALG11 (ALG11 alpha-1,2-mannosyltransferase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; ALG11-related disorder | ATCCTTTAGGCTTCCCCAGCATCCTGTGGGTGTCTTTATCAATGCGTAGCACACAGTTTTGCAGTTATTTGTTTTGCATGTCTGTTTTCTCCACTGGACTGAACTTCTGAAGATAAAGACTCTCTCTCATCTCCATACCCCCAAAACCTGGCATCTCATTACTAGATGCTTAATAAATTTGTTTTTTTTTTTTTTTTTCAGATGGAGTTTCATTGTTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACCACAACCTCCGCCTACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATT... | ATCCTTTAGGCTTCCCCAGCATCCTGTGGGTGTCTTTATCAATGCGTAGCACACAGTTTTGCAGTTATTTGTTTTGCATGTCTGTTTTCTCCACTGGACTGAACTTCTGAAGATAAAGACTCTCTCTCATCTCCATACCCCCAAAACCTGGCATCTCATTACTAGATGCTTAATAAATTTGTTTTTTTTTTTTTTTTTCAGATGGAGTTTCATTGTTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACCACAACCTCCGCCTACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATT... |
Task1_train_19281 | A variant affecting Chromosome 13, within the gene ALG11 (ALG11 alpha-1,2-mannosyltransferase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; ALG11-congenital disorder of glycosylation | GACTCTCTCTCATCTCCATACCCCCAAAACCTGGCATCTCATTACTAGATGCTTAATAAATTTGTTTTTTTTTTTTTTTTTCAGATGGAGTTTCATTGTTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACCACAACCTCCGCCTACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACACCACACATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGC... | GACTCTCTCTCATCTCCATACCCCCAAAACCTGGCATCTCATTACTAGATGCTTAATAAATTTGTTTTTTTTTTTTTTTTTCAGATGGAGTTTCATTGTTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACCACAACCTCCGCCTACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACACCACACATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGC... |
Task1_train_19282 | A variant was discovered on Chromosome 13, affecting ALG11, UTP14C (ALG11 alpha-1,2-mannosyltransferase| UTP14C small subunit processome component). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; ALG11-congenital disorder of glycosylation | AAGTAGCTGGGATTACAGGCATGTGCCACCACACCACACATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCAATAAATGTTTTATGACTCAAAGAATAATTATAAACAGAGGGAGACCAAAGTATTACAAGTCATTAAAGAATATACTTTTAGATATTTTCATACTAATTATATCTAATTGTGATATAGGCACAAGATCTAGCTTTTAAAGACTTGCATTTTTCAGATAAAAACCCTGAGTATTGCTTTAGT... | AAGTAGCTGGGATTACAGGCATGTGCCACCACACCACACATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCAATAAATGTTTTATGACTCAAAGAATAATTATAAACAGAGGGAGACCAAAGTATTACAAGTCATTAAAGAATATACTTTTAGATATTTTCATACTAATTATATCTAATTGTGATATAGGCACAAGATCTAGCTTTTAAAGACTTGCATTTTTCAGATAAAAACCCTGAGTATTGCTTTAGT... |
Task1_train_19283 | The gene ALG11, UTP14C (ALG11 alpha-1,2-mannosyltransferase| UTP14C small subunit processome component) is located on Chromosome 13, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Inborn genetic diseases | GCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCAATAAATGTTTTATGACTCAAAGAATAATTATAAACAGAGGGAGACCAAAGTATTACAAGTCATTAAAGAATATACTTTTAGATATTTTCATACTAATTATATCTAATTGTGATATAGGCACAAGATCTAGCTTTTAAAGACTTGCATTTTTCAGATAAAAACCCTGAGTATTGCTTTAGTATTGTGATCCTATCTGAAGACAGGTTTGTTGAATCTTAATTCTTGTTTAT... | GCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCAATAAATGTTTTATGACTCAAAGAATAATTATAAACAGAGGGAGACCAAAGTATTACAAGTCATTAAAGAATATACTTTTAGATATTTTCATACTAATTATATCTAATTGTGATATAGGCACAAGATCTAGCTTTTAAAGACTTGCATTTTTCAGATAAAAACCCTGAGTATTGCTTTAGTATTGTGATCCTATCTGAAGACAGGTTTGTTGAATCTTAATTCTTGTTTAT... |
Task1_train_19284 | This sequence change occurs on Chromosome 13, altering PIBF1 (progesterone immunomodulatory binding factor 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; PIBF1-related disorder | GGAGATTATCAGCCGGACCCAATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTGAAGTCAGGAATCCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTATCTACTAAAAATATGAAAATTAGCCAGGCATGGTGGCGCACGCCTCTAATCCCAGCTACTCAGAAGGCTGAGGCAAGAGAATTTCTTGAATCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAATAAGTAAGTAAGTAAATAAATAAG... | GGAGATTATCAGCCGGACCCAATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTGAAGTCAGGAATCCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTATCTACTAAAAATATGAAAATTAGCCAGGCATGGTGGCGCACGCCTCTAATCCCAGCTACTCAGAAGGCTGAGGCAAGAGAATTTCTTGAATCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAATAAGTAAGTAAGTAAATAAATAAG... |
Task1_train_19285 | Given this variant in gene PIBF1 (progesterone immunomodulatory binding factor 1) on Chromosome 13, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Joubert syndrome 33 | GGAGATTATCAGCCGGACCCAATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTGAAGTCAGGAATCCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTATCTACTAAAAATATGAAAATTAGCCAGGCATGGTGGCGCACGCCTCTAATCCCAGCTACTCAGAAGGCTGAGGCAAGAGAATTTCTTGAATCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAATAAGTAAGTAAGTAAATAAATAAG... | GGAGATTATCAGCCGGACCCAATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTGAAGTCAGGAATCCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTATCTACTAAAAATATGAAAATTAGCCAGGCATGGTGGCGCACGCCTCTAATCCCAGCTACTCAGAAGGCTGAGGCAAGAGAATTTCTTGAATCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAATAAGTAAGTAAGTAAATAAATAAG... |
Task1_train_19286 | Given this variant in gene CLN5 (CLN5 intracellular trafficking protein) on Chromosome 13, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Neuronal ceroid lipofuscinosis 5 | GTTGAGCTGAATTCAGCTGCAGTGCCCCTCGAGTCCTATTGCTGTGGCCTTCTCCGGTCTTCTTTTCTTGCCTGCATTGTTGAGGTCACCTTCTAACTGATCTCTCATGTTTTATTTGGCCTCTCTCCATACCCTCTTTTAATTCGTGAAATAAGGTTTACTTTATAGCAAATTCAGTCCTGTCAGATCTGCTACTTAACATCCTTTAAGTTTAGCCCTCCCCAATTATAAGGCAGGGAATTCCATGCACATTCTCCTAGTGACAAAATGACAGCCCCTGCCAGTCTCTTCCGTCTCCATTCCTGCGTCGAGGCCTGAAA... | GTTGAGCTGAATTCAGCTGCAGTGCCCCTCGAGTCCTATTGCTGTGGCCTTCTCCGGTCTTCTTTTCTTGCCTGCATTGTTGAGGTCACCTTCTAACTGATCTCTCATGTTTTATTTGGCCTCTCTCCATACCCTCTTTTAATTCGTGAAATAAGGTTTACTTTATAGCAAATTCAGTCCTGTCAGATCTGCTACTTAACATCCTTTAAGTTTAGCCCTCCCCAATTATAAGGCAGGGAATTCCATGCACATTCTCCTAGTGACAAAATGACAGCCCCTGCCAGTCTCTTCCGTCTCCATTCCTGCGTCGAGGCCTGAAA... |
Task1_train_19287 | Gene FBXL3 (F-box and leucine rich repeat protein 3), found on Chromosome 13, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Intellectual disability, short stature, facial anomalies, and joint dislocations | TACAGTATAAACAAATTAAGTACTATGCATTTTGCTTATAAAGTGACAAAGTATTTTAAGCATTATATAATTCAATTTGTACAAAAAGTAAATTTCCAAATACAAGCTTTGGTTAGTAGAACTGATTATGTACTGTCAAATCCATTTTTCCAAAGTTGTTCAAGGAAAAACAACAACTTGACTAGCACAGGTAATTCTTGTACAATCAGAGCTTTTTACTATTTAGAAGGAGGGGATATATTACTATAATTGCTGTTAATTTTCGAATCTAGATAAGCCTTTTTTCTTCTCATATGTTGCTGTAGGAGAGCATATCATCA... | TACAGTATAAACAAATTAAGTACTATGCATTTTGCTTATAAAGTGACAAAGTATTTTAAGCATTATATAATTCAATTTGTACAAAAAGTAAATTTCCAAATACAAGCTTTGGTTAGTAGAACTGATTATGTACTGTCAAATCCATTTTTCCAAAGTTGTTCAAGGAAAAACAACAACTTGACTAGCACAGGTAATTCTTGTACAATCAGAGCTTTTTACTATTTAGAAGGAGGGGATATATTACTATAATTGCTGTTAATTTTCGAATCTAGATAAGCCTTTTTTCTTCTCATATGTTGCTGTAGGAGAGCATATCATCA... |
Task1_train_19288 | Here is a mutation in EDNRB, EDNRB-AS1 (endothelin receptor type B| EDNRB antisense RNA 1) on Chromosome 13. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Waardenburg syndrome type 4A | GCTTTGTCTTCACATAAGAAACTTATCCTTAGAGTATTTTTTGTGTGAAATATAACACCTAAATATGTAAAGATAACTTAGTGTTTAGATGAAGTTCTCATTTTTTAGCAAGTTTGTTTAATGGGAACAACAGATACGAAAAGGTCTAGGTTAACCATTTAGCTCAGTAACATATAAATCTAACCTCGCAAAAAGACAAAATCTGCTTTTGACTTATGTCGTATCTCTTATTCTTTTTCTTCTCTGTTATCTTTTTCATATTGCTTTAGATATATCTGTGTTGGAGAGGAAATTATGTAACCTAGGCAGCACTTTTTTTT... | GCTTTGTCTTCACATAAGAAACTTATCCTTAGAGTATTTTTTGTGTGAAATATAACACCTAAATATGTAAAGATAACTTAGTGTTTAGATGAAGTTCTCATTTTTTAGCAAGTTTGTTTAATGGGAACAACAGATACGAAAAGGTCTAGGTTAACCATTTAGCTCAGTAACATATAAATCTAACCTCGCAAAAAGACAAAATCTGCTTTTGACTTATGTCGTATCTCTTATTCTTTTTCTTCTCTGTTATCTTTTTCATATTGCTTTAGATATATCTGTGTTGGAGAGGAAATTATGTAACCTAGGCAGCACTTTTTTTT... |
Task1_train_19289 | A variant on Chromosome 13 in gene OBI1-AS1, POU4F1 (OBI1 antisense RNA 1| POU class 4 homeobox 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Ataxia, intention tremor, and hypotonia syndrome, childhood-onset | TTGTTCTGTTTTCAATGTTTTAGTTATGATTAAAGGATGGTAACAAACCATCTCTACGAGAGATCCAAAGAGTATCTTGTACACAAAGCAGGCATTTTACCTAACCACCTTCAACTATCTTAATTTTTTAAAATCCACCAGCAGCTTGTAAGGTACCTGATTATTACTATGAAATACTATACATGATTTTCTATTTGGGAGACTGGTAGTGCAAATTAAAGTTCTTGCTACCCAACATTTATCCCCTGTAATAAATGACTCTTGAATAATAAGAACAAGTAAAAGGAAACACAGTTGTTCTGTTTTCGCCCAACATGCAG... | TTGTTCTGTTTTCAATGTTTTAGTTATGATTAAAGGATGGTAACAAACCATCTCTACGAGAGATCCAAAGAGTATCTTGTACACAAAGCAGGCATTTTACCTAACCACCTTCAACTATCTTAATTTTTTAAAATCCACCAGCAGCTTGTAAGGTACCTGATTATTACTATGAAATACTATACATGATTTTCTATTTGGGAGACTGGTAGTGCAAATTAAAGTTCTTGCTACCCAACATTTATCCCCTGTAATAAATGACTCTTGAATAATAAGAACAAGTAAAAGGAAACACAGTTGTTCTGTTTTCGCCCAACATGCAG... |
Task1_train_19290 | Given this variant in gene SLITRK6 (SLIT and NTRK like family member 6) on Chromosome 13, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Global developmental delay | CTCACCATGTGCTGTTCATAGAGTGAGGCAGAGGGTCTTTCAGTAGTGTGATGAGTGGTTTTATGGCCATACATGCTGTACTGAAGATGCACAGGACTGTTGTCTCTCATTTGCTCATCTACTTGTTTCTTTTTGTATCTTCTCCTGCGGTGAAGAACAAGAACCACTATCCCTGCAGCACAGAAAACAATAGTGATGAACATAATCAGAAGTCCCAATATTAGAACAGACAGTGGCACAGCGTCCGTAAGAGATCGTAAAATAGTATCAGCCGTATTTGTTGTTGTTGCAGGAGTGGTGACCATAAGGTAACTAGTCTG... | CTCACCATGTGCTGTTCATAGAGTGAGGCAGAGGGTCTTTCAGTAGTGTGATGAGTGGTTTTATGGCCATACATGCTGTACTGAAGATGCACAGGACTGTTGTCTCTCATTTGCTCATCTACTTGTTTCTTTTTGTATCTTCTCCTGCGGTGAAGAACAAGAACCACTATCCCTGCAGCACAGAAAACAATAGTGATGAACATAATCAGAAGTCCCAATATTAGAACAGACAGTGGCACAGCGTCCGTAAGAGATCGTAAAATAGTATCAGCCGTATTTGTTGTTGTTGCAGGAGTGGTGACCATAAGGTAACTAGTCTG... |
Task1_train_19291 | An alteration has been detected in GPC6, GPC6-AS2 (glypican 6| GPC6 antisense RNA 2) on Chromosome 13. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | GCAAGGCCAAGCTACTTTCATTCTTGGTTTCCAGATCGGAAGGTTTAACTTATGATATTCTCATACTTTTATATTAATAATTTAATATAGTTTCCATTTTAGGACAAACTAGATAACTAGCATTTTTGAAAAAAGTATGAAATTCTCTTGATTTCCTAAAATGATAAGCAATATCAGCATACAGCATATATAAATATTTTGATAAATTTATGCTTCTCAATTTTGCAAATTTCGCCCTATCTGCTTCAATAGTCATTTTCTTTACCGAATCCCTAAAGATTCAGAGAGATTTAATAATATTCAACTTTATTTTACATTTA... | GCAAGGCCAAGCTACTTTCATTCTTGGTTTCCAGATCGGAAGGTTTAACTTATGATATTCTCATACTTTTATATTAATAATTTAATATAGTTTCCATTTTAGGACAAACTAGATAACTAGCATTTTTGAAAAAAGTATGAAATTCTCTTGATTTCCTAAAATGATAAGCAATATCAGCATACAGCATATATAAATATTTTGATAAATTTATGCTTCTCAATTTTGCAAATTTCGCCCTATCTGCTTCAATAGTCATTTTCTTTACCGAATCCCTAAAGATTCAGAGAGATTTAATAATATTCAACTTTATTTTACATTTA... |
Task1_train_19292 | This variant lies on Chromosome 13 and affects the gene DCT (dopachrome tautomerase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Oculocutaneous albinism type 8 | TATTCTTCTGAATGACAGAATTAAAAATATTACTACAAAATGATTATAAAGCCAGAACTATTTATTTATTTATTTATTTTTTTGAGACAGATCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATTTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGTCTCAGCCCCCAGAGTAGCTGGGATTACAGGTGCCTGCCACCACACCCAGATAATTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAAGTGACCCACCCACTTCAGC... | TATTCTTCTGAATGACAGAATTAAAAATATTACTACAAAATGATTATAAAGCCAGAACTATTTATTTATTTATTTATTTTTTTGAGACAGATCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATTTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGTCTCAGCCCCCAGAGTAGCTGGGATTACAGGTGCCTGCCACCACACCCAGATAATTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAAGTGACCCACCCACTTCAGC... |
Task1_train_19293 | A mutation in TGDS (TDP-glucose 4,6-dehydratase), located on Chromosome 13, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Catel-Manzke syndrome | AAAAAAGAAATGGTGAATTAGGGCCTAAGACATCCTATATTGCCTAAAAACGAACATTTCAGAGACTTTCTTAGGCACTGAGTTCAAAACCAGTGAAGGTTGCCTTCTCCCTAGCACCACTACCCCTCATGGTTGTCCGAATCAGGAGACTTCTTCCTGGCTACCCTTAGGGAGAGTCTTCTACACCTATTATTTCCTAGTTTCTAGGAGAAAGGGTTTCAGAAAGAATTTTGACATTTAAATTCTATGCCAGTACTGAAACTCTCCCAAAGATTGAGGCATTCTGCATTTGAATTTTATACAGAAAGTCATGAATCTAA... | AAAAAAGAAATGGTGAATTAGGGCCTAAGACATCCTATATTGCCTAAAAACGAACATTTCAGAGACTTTCTTAGGCACTGAGTTCAAAACCAGTGAAGGTTGCCTTCTCCCTAGCACCACTACCCCTCATGGTTGTCCGAATCAGGAGACTTCTTCCTGGCTACCCTTAGGGAGAGTCTTCTACACCTATTATTTCCTAGTTTCTAGGAGAAAGGGTTTCAGAAAGAATTTTGACATTTAAATTCTATGCCAGTACTGAAACTCTCCCAAAGATTGAGGCATTCTGCATTTGAATTTTATACAGAAAGTCATGAATCTAA... |
Task1_train_19294 | The variant affects gene TGDS (TDP-glucose 4,6-dehydratase), which is on Chromosome 13. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Catel-Manzke syndrome | AGGCAGAGACAAATAAATGAAGAGAGACAGAGATACAAAAATAAACTTGATATGACGGAGGGCAGAAACTGGTGAACTTTTCAATAAATGGTACAGGAACAATTGGTATTCACATGGAAAAACATGAAATTGGGGTTATATAAGAATTAATTTCAGATGGATTACAAATCTAAACATAAAAGACAAAATTATAAAGCTTTGAAAAGATAATATACAAAAATACATCTTCGTGACCTTGGGGTAGGAGAGAATTTAAGAACTGAAAAAGCATTAAGCATAAAGGAAAAAACATACATTGAAAACATCTGTTCATCAAAACA... | AGGCAGAGACAAATAAATGAAGAGAGACAGAGATACAAAAATAAACTTGATATGACGGAGGGCAGAAACTGGTGAACTTTTCAATAAATGGTACAGGAACAATTGGTATTCACATGGAAAAACATGAAATTGGGGTTATATAAGAATTAATTTCAGATGGATTACAAATCTAAACATAAAAGACAAAATTATAAAGCTTTGAAAAGATAATATACAAAAATACATCTTCGTGACCTTGGGGTAGGAGAGAATTTAAGAACTGAAAAAGCATTAAGCATAAAGGAAAAAACATACATTGAAAACATCTGTTCATCAAAACA... |
Task1_train_19295 | Here is a genetic alteration in TGDS (TDP-glucose 4,6-dehydratase) on Chromosome 13. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Catel-Manzke syndrome | GACAGAGATACAAAAATAAACTTGATATGACGGAGGGCAGAAACTGGTGAACTTTTCAATAAATGGTACAGGAACAATTGGTATTCACATGGAAAAACATGAAATTGGGGTTATATAAGAATTAATTTCAGATGGATTACAAATCTAAACATAAAAGACAAAATTATAAAGCTTTGAAAAGATAATATACAAAAATACATCTTCGTGACCTTGGGGTAGGAGAGAATTTAAGAACTGAAAAAGCATTAAGCATAAAGGAAAAAACATACATTGAAAACATCTGTTCATCAAAACACACTGTCAAAAAAGTGAGAAGATAG... | GACAGAGATACAAAAATAAACTTGATATGACGGAGGGCAGAAACTGGTGAACTTTTCAATAAATGGTACAGGAACAATTGGTATTCACATGGAAAAACATGAAATTGGGGTTATATAAGAATTAATTTCAGATGGATTACAAATCTAAACATAAAAGACAAAATTATAAAGCTTTGAAAAGATAATATACAAAAATACATCTTCGTGACCTTGGGGTAGGAGAGAATTTAAGAACTGAAAAAGCATTAAGCATAAAGGAAAAAACATACATTGAAAACATCTGTTCATCAAAACACACTGTCAAAAAAGTGAGAAGATAG... |
Task1_train_19296 | A mutation on Chromosome 13 affecting CLDN10 (claudin 10) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; HELIX syndrome | AACACTTTAAAAAGGCAAGCCATACAAAAGAATAGAGGATGCTTTGTAGTCATTGCTCAAAGGTGACTGATTTGCATAGCAAGGAGAATGAGAAGGAAGAGGTTAGGAAGATACTTTTTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGATTTCACCGTGTTAGCCAGGATAGTCTCGATCTCCTGACTTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGCCAGGGAGATACTTCTTAAACTCAGTTTTTAAGTTTAGTTTACCAGTGAACCTAAC... | AACACTTTAAAAAGGCAAGCCATACAAAAGAATAGAGGATGCTTTGTAGTCATTGCTCAAAGGTGACTGATTTGCATAGCAAGGAGAATGAGAAGGAAGAGGTTAGGAAGATACTTTTTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGATTTCACCGTGTTAGCCAGGATAGTCTCGATCTCCTGACTTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGCCAGGGAGATACTTCTTAAACTCAGTTTTTAAGTTTAGTTTACCAGTGAACCTAAC... |
Task1_train_19297 | A sequence alteration has been identified in CLDN10 (claudin 10) on Chromosome 13. Is it disease-inducing or harmless? | Pathogenic; HELIX syndrome | ATTTTTAGTAGAGACGGGATTTCACCGTGTTAGCCAGGATAGTCTCGATCTCCTGACTTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGCCAGGGAGATACTTCTTAAACTCAGTTTTTAAGTTTAGTTTACCAGTGAACCTAACATGATACATCAGGACAAGCTGGGGTTCAGAGCAGAACAGTAGGGTAACCATGTCTGCATTGTCACCCTTGTACCCATTCACGAAAGCCATGGGACCATTAAGCACAGAGAAGCCCACTACCTGCCAGCCGCTGCACGGCTGC... | ATTTTTAGTAGAGACGGGATTTCACCGTGTTAGCCAGGATAGTCTCGATCTCCTGACTTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGCCAGGGAGATACTTCTTAAACTCAGTTTTTAAGTTTAGTTTACCAGTGAACCTAACATGATACATCAGGACAAGCTGGGGTTCAGAGCAGAACAGTAGGGTAACCATGTCTGCATTGTCACCCTTGTACCCATTCACGAAAGCCATGGGACCATTAAGCACAGAGAAGCCCACTACCTGCCAGCCGCTGCACGGCTGC... |
Task1_train_19298 | Gene CLDN10 (claudin 10), found on Chromosome 13, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; HELIX syndrome | AGCGGAGACCCAGATAGCCCTGCAGCACAATGATTGCTATGAAAGAAGCCTTCATTATCCTGTTTTGCTAAAAATAAGTTTGTTTTGCTGTTTTTGATAGCCACGGTGTTAGTGAAATTGTTTTCTGTATGGAAATATTTCACACTACACAATGGAAGGTCACTGTCCTTGCAGTCTGCATTTGTGGGAGTCTAAAGTGTTTACAATTAAGTAGAGCAGCTCCTGTTTGCTCTTCAAAAATGGGTCCAAGGAATAGGATTAAAACTTCAATTTCATTCTTTTCCAAAGAAACACAGACTGGGGCCAGGTGCAGTGGCTCA... | AGCGGAGACCCAGATAGCCCTGCAGCACAATGATTGCTATGAAAGAAGCCTTCATTATCCTGTTTTGCTAAAAATAAGTTTGTTTTGCTGTTTTTGATAGCCACGGTGTTAGTGAAATTGTTTTCTGTATGGAAATATTTCACACTACACAATGGAAGGTCACTGTCCTTGCAGTCTGCATTTGTGGGAGTCTAAAGTGTTTACAATTAAGTAGAGCAGCTCCTGTTTGCTCTTCAAAAATGGGTCCAAGGAATAGGATTAAAACTTCAATTTCATTCTTTTCCAAAGAAACACAGACTGGGGCCAGGTGCAGTGGCTCA... |
Task1_train_19299 | Here is a variant affecting DZIP1 (DAZ interacting zinc finger protein 1) on Chromosome 13. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Spermatogenic failure 47 | CATTTCTATAGTAACCCCAAAAAAGGAAAAAAAAGTTTATAAACATACAATTTCTGTATGTTAGAGGTTTTAACATTTCACTAGATGGCTGCTAAAGCTGGACTATAATAAATCTTTAAAAATGTTTAAATAGAATCCATTATATTCGTTGCACAAGAAAAAAACCATCTTAGCACTATTTGTAAATATTTAATTTTTAAGCAGCATTTATAAAACAAATAAGCAATTAGCAATGCCCAGTGTCATTTGAAGATTATACCTCAGGGTTGTCTACCCAAGACCAAACACTAAGTCCTTCTAATAATATTCCTAATTGTTCC... | CATTTCTATAGTAACCCCAAAAAAGGAAAAAAAAGTTTATAAACATACAATTTCTGTATGTTAGAGGTTTTAACATTTCACTAGATGGCTGCTAAAGCTGGACTATAATAAATCTTTAAAAATGTTTAAATAGAATCCATTATATTCGTTGCACAAGAAAAAAACCATCTTAGCACTATTTGTAAATATTTAATTTTTAAGCAGCATTTATAAAACAAATAAGCAATTAGCAATGCCCAGTGTCATTTGAAGATTATACCTCAGGGTTGTCTACCCAAGACCAAACACTAAGTCCTTCTAATAATATTCCTAATTGTTCC... |
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