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_26800 | This sequence variant lies in NOTCH3 (notch receptor 3) on Chromosome 19. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | CAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGC... | CAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGC... |
Task1_train_26801 | This variant lies on Chromosome 19 and affects the gene NOTCH3 (notch receptor 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | AGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCC... | AGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCC... |
Task1_train_26802 | This mutation occurs in NOTCH3 (notch receptor 3) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | CTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCC... | CTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCC... |
Task1_train_26803 | The gene NOTCH3 (notch receptor 3), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | GACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAA... | GACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAA... |
Task1_train_26804 | This variant impacts the gene NOTCH3 (notch receptor 3) on Chromosome 19. Is the change likely to result in a pathogenic outcome? | Pathogenic; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | ACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAG... | ACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAG... |
Task1_train_26805 | A mutation found in NOTCH3 (notch receptor 3) on Chromosome 19 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | TGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATAC... | TGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATAC... |
Task1_train_26806 | Mutation context: Chromosome 19, Gene NOTCH3 (notch receptor 3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | CACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTA... | CACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTA... |
Task1_train_26807 | Given this variant in gene NOTCH3 (notch receptor 3) on Chromosome 19, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | TAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGC... | TAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGC... |
Task1_train_26808 | With a mutation on Chromosome 19 in gene NOTCH3 (notch receptor 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Migraine | AATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAA... | AATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAA... |
Task1_train_26809 | A sequence alteration has been identified in NOTCH3 (notch receptor 3) on Chromosome 19. Is it disease-inducing or harmless? | Pathogenic; Ischemic stroke | AATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAA... | AATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAA... |
Task1_train_26810 | A variant on Chromosome 19 in gene NOTCH3 (notch receptor 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Abnormal cerebral white matter morphology | AATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAA... | AATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAA... |
Task1_train_26811 | A variant on Chromosome 19 in gene NOTCH3 (notch receptor 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Migraine with aura | AATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAA... | AATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAA... |
Task1_train_26812 | The gene NOTCH3 (notch receptor 3) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Depression | AATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAA... | AATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAA... |
Task1_train_26813 | The gene NOTCH3 (notch receptor 3) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Atypical behavior | AATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAA... | AATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAA... |
Task1_train_26814 | This variant impacts the gene NOTCH3 (notch receptor 3) on Chromosome 19. Is the change likely to result in a pathogenic outcome? | Pathogenic; Cognitive impairment | AATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAA... | AATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAA... |
Task1_train_26815 | A mutation in NOTCH3 (notch receptor 3), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | AATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAA... | AATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAA... |
Task1_train_26816 | This variant impacts the gene NOTCH3 (notch receptor 3) on Chromosome 19. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | TGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACAT... | TGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACAT... |
Task1_train_26817 | This sequence change occurs on Chromosome 19, altering NOTCH3 (notch receptor 3). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | CACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGAC... | CACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGAC... |
Task1_train_26818 | This is a variant in NOTCH3 (notch receptor 3), located on Chromosome 19. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | CACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGAC... | CACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGAC... |
Task1_train_26819 | This sequence change occurs on Chromosome 19, altering NOTCH3 (notch receptor 3). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | ACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACT... | ACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACT... |
Task1_train_26820 | This variant affects gene NOTCH3 (notch receptor 3) located on Chromosome 19. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | AGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAA... | AGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAA... |
Task1_train_26821 | This sequence change occurs on Chromosome 19, altering NOTCH3 (notch receptor 3). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | GGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACAC... | GGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACAC... |
Task1_train_26822 | Gene NOTCH3 (notch receptor 3), found on Chromosome 19, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | GCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACT... | GCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACT... |
Task1_train_26823 | This alteration in NOTCH3 (notch receptor 3) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | GCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACT... | GCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACT... |
Task1_train_26824 | This is a variant in NOTCH3 (notch receptor 3), located on Chromosome 19. Is this mutation a likely cause of disease or not? | Pathogenic; NOTCH3-related disorder | GGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGC... | GGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGC... |
Task1_train_26825 | A genetic alteration is present in NOTCH3 (notch receptor 3) on Chromosome 19. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | GGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGC... | GGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGC... |
Task1_train_26826 | Chromosome 19 houses a mutation in gene NOTCH3 (notch receptor 3). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | GTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCC... | GTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCC... |
Task1_train_26827 | This alteration in NOTCH3 (notch receptor 3) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | AGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTT... | AGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTT... |
Task1_train_26828 | Located on Chromosome 19, this mutation impacts NOTCH3 (notch receptor 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not provided | TTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCAT... | TTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCAT... |
Task1_train_26829 | A variant affecting Chromosome 19, within the gene NOTCH3 (notch receptor 3), has been observed. Determine if it's benign or associated with disease. | Pathogenic; NOTCH3-related disorder | TTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCAT... | TTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCAT... |
Task1_train_26830 | A mutation found in NOTCH3 (notch receptor 3) on Chromosome 19 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | TCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATG... | TCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATG... |
Task1_train_26831 | The following genetic variant occurs in NOTCH3 (notch receptor 3) on Chromosome 19. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; NOTCH3-related disorder | GCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTA... | GCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTA... |
Task1_train_26832 | This genomic variant is located on Chromosome 19, within the NOTCH3 (notch receptor 3) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | GCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTA... | GCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTA... |
Task1_train_26833 | Mutation context: Chromosome 19, Gene NOTCH3 (notch receptor 3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Myofibromatosis, infantile, 2 | GCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTA... | GCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTA... |
Task1_train_26834 | This alteration occurs within gene NOTCH3 (notch receptor 3) located on Chromosome 19. Is it associated with a disease or is it a benign variant? | Pathogenic; Lateral meningocele syndrome | GCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTA... | GCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTA... |
Task1_train_26835 | This genomic variant is located on Chromosome 19, within the NOTCH3 (notch receptor 3) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | GCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTA... | GCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTA... |
Task1_train_26836 | Mutation context: Chromosome 19, Gene NOTCH3 (notch receptor 3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | ATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATAT... | ATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATAT... |
Task1_train_26837 | Consider a variant on Chromosome 19 in gene NOTCH3 (notch receptor 3). Determine its clinical classification and disease relevance. | Pathogenic; not provided | CTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAA... | CTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAA... |
Task1_train_26838 | This variant impacts the gene NOTCH3 (notch receptor 3) on Chromosome 19. Is the change likely to result in a pathogenic outcome? | Pathogenic; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | ATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTC... | ATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTC... |
Task1_train_26839 | Here is a variant affecting NOTCH3 (notch receptor 3) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Myofibromatosis, infantile, 2 | ATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTC... | ATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTC... |
Task1_train_26840 | Given this context: Chromosome 19, gene NOTCH3 (notch receptor 3) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Lateral meningocele syndrome | ATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTC... | ATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTC... |
Task1_train_26841 | Gene NOTCH3 (notch receptor 3) on Chromosome 19 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; not provided | GCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATT... | GCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATT... |
Task1_train_26842 | A genetic alteration is present in NOTCH3 (notch receptor 3) on Chromosome 19. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | GGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTT... | GGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTT... |
Task1_train_26843 | This sequence change occurs on Chromosome 19, altering NOTCH3 (notch receptor 3). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Lateral meningocele syndrome | GGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTT... | GGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTT... |
Task1_train_26844 | The gene NOTCH3 (notch receptor 3) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | GGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTT... | GGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTT... |
Task1_train_26845 | Given this variant in gene NOTCH3 (notch receptor 3) on Chromosome 19, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Myofibromatosis, infantile, 2 | GGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTT... | GGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTT... |
Task1_train_26846 | This variant impacts the gene NOTCH3 (notch receptor 3) on Chromosome 19. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | GAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCA... | GAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCA... |
Task1_train_26847 | A mutation on Chromosome 19 affecting NOTCH3 (notch receptor 3) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | TACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCC... | TACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCC... |
Task1_train_26848 | Gene NOTCH3 (notch receptor 3) on Chromosome 19 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; NOTCH3-related disorder | TCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACT... | TCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACT... |
Task1_train_26849 | Here is a mutation in NOTCH3 (notch receptor 3) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | TCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACT... | TCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACT... |
Task1_train_26850 | Chromosome 19 houses a mutation in gene NOTCH3 (notch receptor 3). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | CCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTA... | CCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTA... |
Task1_train_26851 | Assess the clinical impact of this variant on gene NOTCH3 (notch receptor 3), found on Chromosome 19. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | CCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTA... | CCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTA... |
Task1_train_26852 | This variant impacts the gene NOTCH3 (notch receptor 3) on Chromosome 19. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | GGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCA... | GGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCA... |
Task1_train_26853 | This alteration in NOTCH3 (notch receptor 3) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | GGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCA... | GGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCA... |
Task1_train_26854 | With a mutation on Chromosome 19 in gene NOTCH3 (notch receptor 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | GGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAA... | GGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAA... |
Task1_train_26855 | Given this context: Chromosome 19, gene NOTCH3 (notch receptor 3) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | ACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCA... | ACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCA... |
Task1_train_26856 | This variant affects the gene NOTCH3 (notch receptor 3) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not provided | TATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCA... | TATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCA... |
Task1_train_26857 | An alteration has been detected in NOTCH3 (notch receptor 3) on Chromosome 19. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | TTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGG... | TTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGG... |
Task1_train_26858 | A genomic change on Chromosome 19 affects NOTCH3 (notch receptor 3). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | CACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGG... | CACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGG... |
Task1_train_26859 | This variant affects the gene NOTCH3 (notch receptor 3) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not specified | AACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGC... | AACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGC... |
Task1_train_26860 | An alteration has been detected in NOTCH3 (notch receptor 3) on Chromosome 19. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | AACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGC... | AACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGC... |
Task1_train_26861 | This gene mutation involves NOTCH3 (notch receptor 3) on Chromosome 19. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | TTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTA... | TTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTA... |
Task1_train_26862 | A sequence alteration has been identified in NOTCH3 (notch receptor 3) on Chromosome 19. Is it disease-inducing or harmless? | Pathogenic; not provided | TGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTAT... | TGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTAT... |
Task1_train_26863 | This sequence change occurs on Chromosome 19, altering NOTCH3 (notch receptor 3). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | TGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTAT... | TGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTAT... |
Task1_train_26864 | This gene mutation involves NOTCH3 (notch receptor 3) on Chromosome 19. Is it associated with any clinical condition, or is it benign? | Pathogenic; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | CCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTT... | CCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTT... |
Task1_train_26865 | Consider this mutation in NOTCH3 (notch receptor 3) on Chromosome 19. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | GGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGAT... | GGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGAT... |
Task1_train_26866 | Given this variant in gene NOTCH3 (notch receptor 3) on Chromosome 19, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | GGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGAT... | GGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGAT... |
Task1_train_26867 | This sequence change occurs on Chromosome 19, altering NOTCH3 (notch receptor 3). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | GTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGATAGGGTTTTGCCATG... | GTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGATAGGGTTTTGCCATG... |
Task1_train_26868 | A mutation found in NOTCH3 (notch receptor 3) on Chromosome 19 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | TCACCCCCCTCTATCCCCCCACCCTCCGCCCCTGGCGCGGTTGTCCTCCCTCCGGCTTGTCCCAGACGCCTGAGACTGAACTCAACAAGCGGCTGACTCAGTCCTTAGCGTCACCCGCAAGATCCCCCCCACCCCGGCCCCCAGCGAAACAGGTCGGGGCACGGCCGAGCAAGCAAGGGTGCGGGTGGCGTTGGGAGGGGAGGGCACAGCTCCCGTCCCCTCCTCCAAGGCCCGCAGGGCGACCACTGCGGCCCCGACCGCGCGTCGGGAGGGGGCGCGCTGCGCTGGGCGCCGAGGATAGCTGGTCCCACCGCCAGGCA... | TCACCCCCCTCTATCCCCCCACCCTCCGCCCCTGGCGCGGTTGTCCTCCCTCCGGCTTGTCCCAGACGCCTGAGACTGAACTCAACAAGCGGCTGACTCAGTCCTTAGCGTCACCCGCAAGATCCCCCCCACCCCGGCCCCCAGCGAAACAGGTCGGGGCACGGCCGAGCAAGCAAGGGTGCGGGTGGCGTTGGGAGGGGAGGGCACAGCTCCCGTCCCCTCCTCCAAGGCCCGCAGGGCGACCACTGCGGCCCCGACCGCGCGTCGGGAGGGGGCGCGCTGCGCTGGGCGCCGAGGATAGCTGGTCCCACCGCCAGGCA... |
Task1_train_26869 | Assess the clinical impact of this variant on gene NOTCH3 (notch receptor 3), found on Chromosome 19. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | TCACCCCCCTCTATCCCCCCACCCTCCGCCCCTGGCGCGGTTGTCCTCCCTCCGGCTTGTCCCAGACGCCTGAGACTGAACTCAACAAGCGGCTGACTCAGTCCTTAGCGTCACCCGCAAGATCCCCCCCACCCCGGCCCCCAGCGAAACAGGTCGGGGCACGGCCGAGCAAGCAAGGGTGCGGGTGGCGTTGGGAGGGGAGGGCACAGCTCCCGTCCCCTCCTCCAAGGCCCGCAGGGCGACCACTGCGGCCCCGACCGCGCGTCGGGAGGGGGCGCGCTGCGCTGGGCGCCGAGGATAGCTGGTCCCACCGCCAGGCA... | TCACCCCCCTCTATCCCCCCACCCTCCGCCCCTGGCGCGGTTGTCCTCCCTCCGGCTTGTCCCAGACGCCTGAGACTGAACTCAACAAGCGGCTGACTCAGTCCTTAGCGTCACCCGCAAGATCCCCCCCACCCCGGCCCCCAGCGAAACAGGTCGGGGCACGGCCGAGCAAGCAAGGGTGCGGGTGGCGTTGGGAGGGGAGGGCACAGCTCCCGTCCCCTCCTCCAAGGCCCGCAGGGCGACCACTGCGGCCCCGACCGCGCGTCGGGAGGGGGCGCGCTGCGCTGGGCGCCGAGGATAGCTGGTCCCACCGCCAGGCA... |
Task1_train_26870 | A sequence alteration has been identified in NOTCH3 (notch receptor 3) on Chromosome 19. Is it disease-inducing or harmless? | Pathogenic; not provided | CACCCCCCTCTATCCCCCCACCCTCCGCCCCTGGCGCGGTTGTCCTCCCTCCGGCTTGTCCCAGACGCCTGAGACTGAACTCAACAAGCGGCTGACTCAGTCCTTAGCGTCACCCGCAAGATCCCCCCCACCCCGGCCCCCAGCGAAACAGGTCGGGGCACGGCCGAGCAAGCAAGGGTGCGGGTGGCGTTGGGAGGGGAGGGCACAGCTCCCGTCCCCTCCTCCAAGGCCCGCAGGGCGACCACTGCGGCCCCGACCGCGCGTCGGGAGGGGGCGCGCTGCGCTGGGCGCCGAGGATAGCTGGTCCCACCGCCAGGCAG... | CACCCCCCTCTATCCCCCCACCCTCCGCCCCTGGCGCGGTTGTCCTCCCTCCGGCTTGTCCCAGACGCCTGAGACTGAACTCAACAAGCGGCTGACTCAGTCCTTAGCGTCACCCGCAAGATCCCCCCCACCCCGGCCCCCAGCGAAACAGGTCGGGGCACGGCCGAGCAAGCAAGGGTGCGGGTGGCGTTGGGAGGGGAGGGCACAGCTCCCGTCCCCTCCTCCAAGGCCCGCAGGGCGACCACTGCGGCCCCGACCGCGCGTCGGGAGGGGGCGCGCTGCGCTGGGCGCCGAGGATAGCTGGTCCCACCGCCAGGCAG... |
Task1_train_26871 | The gene NOTCH3 (notch receptor 3), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | CCTCTATCCCCCCACCCTCCGCCCCTGGCGCGGTTGTCCTCCCTCCGGCTTGTCCCAGACGCCTGAGACTGAACTCAACAAGCGGCTGACTCAGTCCTTAGCGTCACCCGCAAGATCCCCCCCACCCCGGCCCCCAGCGAAACAGGTCGGGGCACGGCCGAGCAAGCAAGGGTGCGGGTGGCGTTGGGAGGGGAGGGCACAGCTCCCGTCCCCTCCTCCAAGGCCCGCAGGGCGACCACTGCGGCCCCGACCGCGCGTCGGGAGGGGGCGCGCTGCGCTGGGCGCCGAGGATAGCTGGTCCCACCGCCAGGCAGGGCGCG... | CCTCTATCCCCCCACCCTCCGCCCCTGGCGCGGTTGTCCTCCCTCCGGCTTGTCCCAGACGCCTGAGACTGAACTCAACAAGCGGCTGACTCAGTCCTTAGCGTCACCCGCAAGATCCCCCCCACCCCGGCCCCCAGCGAAACAGGTCGGGGCACGGCCGAGCAAGCAAGGGTGCGGGTGGCGTTGGGAGGGGAGGGCACAGCTCCCGTCCCCTCCTCCAAGGCCCGCAGGGCGACCACTGCGGCCCCGACCGCGCGTCGGGAGGGGGCGCGCTGCGCTGGGCGCCGAGGATAGCTGGTCCCACCGCCAGGCAGGGCGCG... |
Task1_train_26872 | Here is a genetic alteration in NOTCH3 (notch receptor 3) on Chromosome 19. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | CTGGCGCGGTTGTCCTCCCTCCGGCTTGTCCCAGACGCCTGAGACTGAACTCAACAAGCGGCTGACTCAGTCCTTAGCGTCACCCGCAAGATCCCCCCCACCCCGGCCCCCAGCGAAACAGGTCGGGGCACGGCCGAGCAAGCAAGGGTGCGGGTGGCGTTGGGAGGGGAGGGCACAGCTCCCGTCCCCTCCTCCAAGGCCCGCAGGGCGACCACTGCGGCCCCGACCGCGCGTCGGGAGGGGGCGCGCTGCGCTGGGCGCCGAGGATAGCTGGTCCCACCGCCAGGCAGGGCGCGACCCGCGCGGGCCCCCTCCCGACG... | CTGGCGCGGTTGTCCTCCCTCCGGCTTGTCCCAGACGCCTGAGACTGAACTCAACAAGCGGCTGACTCAGTCCTTAGCGTCACCCGCAAGATCCCCCCCACCCCGGCCCCCAGCGAAACAGGTCGGGGCACGGCCGAGCAAGCAAGGGTGCGGGTGGCGTTGGGAGGGGAGGGCACAGCTCCCGTCCCCTCCTCCAAGGCCCGCAGGGCGACCACTGCGGCCCCGACCGCGCGTCGGGAGGGGGCGCGCTGCGCTGGGCGCCGAGGATAGCTGGTCCCACCGCCAGGCAGGGCGCGACCCGCGCGGGCCCCCTCCCGACG... |
Task1_train_26873 | This genomic variant is located on Chromosome 19, within the NOTCH3 (notch receptor 3) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not provided | CCTCCGGCTTGTCCCAGACGCCTGAGACTGAACTCAACAAGCGGCTGACTCAGTCCTTAGCGTCACCCGCAAGATCCCCCCCACCCCGGCCCCCAGCGAAACAGGTCGGGGCACGGCCGAGCAAGCAAGGGTGCGGGTGGCGTTGGGAGGGGAGGGCACAGCTCCCGTCCCCTCCTCCAAGGCCCGCAGGGCGACCACTGCGGCCCCGACCGCGCGTCGGGAGGGGGCGCGCTGCGCTGGGCGCCGAGGATAGCTGGTCCCACCGCCAGGCAGGGCGCGACCCGCGCGGGCCCCCTCCCGACGCCCCGGGCGGGTTCCCA... | CCTCCGGCTTGTCCCAGACGCCTGAGACTGAACTCAACAAGCGGCTGACTCAGTCCTTAGCGTCACCCGCAAGATCCCCCCCACCCCGGCCCCCAGCGAAACAGGTCGGGGCACGGCCGAGCAAGCAAGGGTGCGGGTGGCGTTGGGAGGGGAGGGCACAGCTCCCGTCCCCTCCTCCAAGGCCCGCAGGGCGACCACTGCGGCCCCGACCGCGCGTCGGGAGGGGGCGCGCTGCGCTGGGCGCCGAGGATAGCTGGTCCCACCGCCAGGCAGGGCGCGACCCGCGCGGGCCCCCTCCCGACGCCCCGGGCGGGTTCCCA... |
Task1_train_26874 | Here is a variant affecting NOTCH3 (notch receptor 3) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Myofibromatosis, infantile, 2 | CTCCGGCTTGTCCCAGACGCCTGAGACTGAACTCAACAAGCGGCTGACTCAGTCCTTAGCGTCACCCGCAAGATCCCCCCCACCCCGGCCCCCAGCGAAACAGGTCGGGGCACGGCCGAGCAAGCAAGGGTGCGGGTGGCGTTGGGAGGGGAGGGCACAGCTCCCGTCCCCTCCTCCAAGGCCCGCAGGGCGACCACTGCGGCCCCGACCGCGCGTCGGGAGGGGGCGCGCTGCGCTGGGCGCCGAGGATAGCTGGTCCCACCGCCAGGCAGGGCGCGACCCGCGCGGGCCCCCTCCCGACGCCCCGGGCGGGTTCCCAC... | CTCCGGCTTGTCCCAGACGCCTGAGACTGAACTCAACAAGCGGCTGACTCAGTCCTTAGCGTCACCCGCAAGATCCCCCCCACCCCGGCCCCCAGCGAAACAGGTCGGGGCACGGCCGAGCAAGCAAGGGTGCGGGTGGCGTTGGGAGGGGAGGGCACAGCTCCCGTCCCCTCCTCCAAGGCCCGCAGGGCGACCACTGCGGCCCCGACCGCGCGTCGGGAGGGGGCGCGCTGCGCTGGGCGCCGAGGATAGCTGGTCCCACCGCCAGGCAGGGCGCGACCCGCGCGGGCCCCCTCCCGACGCCCCGGGCGGGTTCCCAC... |
Task1_train_26875 | Here is a mutation in NOTCH3 (notch receptor 3) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | CTCCGGCTTGTCCCAGACGCCTGAGACTGAACTCAACAAGCGGCTGACTCAGTCCTTAGCGTCACCCGCAAGATCCCCCCCACCCCGGCCCCCAGCGAAACAGGTCGGGGCACGGCCGAGCAAGCAAGGGTGCGGGTGGCGTTGGGAGGGGAGGGCACAGCTCCCGTCCCCTCCTCCAAGGCCCGCAGGGCGACCACTGCGGCCCCGACCGCGCGTCGGGAGGGGGCGCGCTGCGCTGGGCGCCGAGGATAGCTGGTCCCACCGCCAGGCAGGGCGCGACCCGCGCGGGCCCCCTCCCGACGCCCCGGGCGGGTTCCCAC... | CTCCGGCTTGTCCCAGACGCCTGAGACTGAACTCAACAAGCGGCTGACTCAGTCCTTAGCGTCACCCGCAAGATCCCCCCCACCCCGGCCCCCAGCGAAACAGGTCGGGGCACGGCCGAGCAAGCAAGGGTGCGGGTGGCGTTGGGAGGGGAGGGCACAGCTCCCGTCCCCTCCTCCAAGGCCCGCAGGGCGACCACTGCGGCCCCGACCGCGCGTCGGGAGGGGGCGCGCTGCGCTGGGCGCCGAGGATAGCTGGTCCCACCGCCAGGCAGGGCGCGACCCGCGCGGGCCCCCTCCCGACGCCCCGGGCGGGTTCCCAC... |
Task1_train_26876 | The gene NOTCH3 (notch receptor 3), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Lateral meningocele syndrome | CTCCGGCTTGTCCCAGACGCCTGAGACTGAACTCAACAAGCGGCTGACTCAGTCCTTAGCGTCACCCGCAAGATCCCCCCCACCCCGGCCCCCAGCGAAACAGGTCGGGGCACGGCCGAGCAAGCAAGGGTGCGGGTGGCGTTGGGAGGGGAGGGCACAGCTCCCGTCCCCTCCTCCAAGGCCCGCAGGGCGACCACTGCGGCCCCGACCGCGCGTCGGGAGGGGGCGCGCTGCGCTGGGCGCCGAGGATAGCTGGTCCCACCGCCAGGCAGGGCGCGACCCGCGCGGGCCCCCTCCCGACGCCCCGGGCGGGTTCCCAC... | CTCCGGCTTGTCCCAGACGCCTGAGACTGAACTCAACAAGCGGCTGACTCAGTCCTTAGCGTCACCCGCAAGATCCCCCCCACCCCGGCCCCCAGCGAAACAGGTCGGGGCACGGCCGAGCAAGCAAGGGTGCGGGTGGCGTTGGGAGGGGAGGGCACAGCTCCCGTCCCCTCCTCCAAGGCCCGCAGGGCGACCACTGCGGCCCCGACCGCGCGTCGGGAGGGGGCGCGCTGCGCTGGGCGCCGAGGATAGCTGGTCCCACCGCCAGGCAGGGCGCGACCCGCGCGGGCCCCCTCCCGACGCCCCGGGCGGGTTCCCAC... |
Task1_train_26877 | Chromosome 19 houses a mutation in gene NOTCH3 (notch receptor 3). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | CTCCGGCTTGTCCCAGACGCCTGAGACTGAACTCAACAAGCGGCTGACTCAGTCCTTAGCGTCACCCGCAAGATCCCCCCCACCCCGGCCCCCAGCGAAACAGGTCGGGGCACGGCCGAGCAAGCAAGGGTGCGGGTGGCGTTGGGAGGGGAGGGCACAGCTCCCGTCCCCTCCTCCAAGGCCCGCAGGGCGACCACTGCGGCCCCGACCGCGCGTCGGGAGGGGGCGCGCTGCGCTGGGCGCCGAGGATAGCTGGTCCCACCGCCAGGCAGGGCGCGACCCGCGCGGGCCCCCTCCCGACGCCCCGGGCGGGTTCCCAC... | CTCCGGCTTGTCCCAGACGCCTGAGACTGAACTCAACAAGCGGCTGACTCAGTCCTTAGCGTCACCCGCAAGATCCCCCCCACCCCGGCCCCCAGCGAAACAGGTCGGGGCACGGCCGAGCAAGCAAGGGTGCGGGTGGCGTTGGGAGGGGAGGGCACAGCTCCCGTCCCCTCCTCCAAGGCCCGCAGGGCGACCACTGCGGCCCCGACCGCGCGTCGGGAGGGGGCGCGCTGCGCTGGGCGCCGAGGATAGCTGGTCCCACCGCCAGGCAGGGCGCGACCCGCGCGGGCCCCCTCCCGACGCCCCGGGCGGGTTCCCAC... |
Task1_train_26878 | A mutation found in NOTCH3 (notch receptor 3) on Chromosome 19 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | CGCCTGAGACTGAACTCAACAAGCGGCTGACTCAGTCCTTAGCGTCACCCGCAAGATCCCCCCCACCCCGGCCCCCAGCGAAACAGGTCGGGGCACGGCCGAGCAAGCAAGGGTGCGGGTGGCGTTGGGAGGGGAGGGCACAGCTCCCGTCCCCTCCTCCAAGGCCCGCAGGGCGACCACTGCGGCCCCGACCGCGCGTCGGGAGGGGGCGCGCTGCGCTGGGCGCCGAGGATAGCTGGTCCCACCGCCAGGCAGGGCGCGACCCGCGCGGGCCCCCTCCCGACGCCCCGGGCGGGTTCCCACGCTCTGCGTCCCGCGCC... | CGCCTGAGACTGAACTCAACAAGCGGCTGACTCAGTCCTTAGCGTCACCCGCAAGATCCCCCCCACCCCGGCCCCCAGCGAAACAGGTCGGGGCACGGCCGAGCAAGCAAGGGTGCGGGTGGCGTTGGGAGGGGAGGGCACAGCTCCCGTCCCCTCCTCCAAGGCCCGCAGGGCGACCACTGCGGCCCCGACCGCGCGTCGGGAGGGGGCGCGCTGCGCTGGGCGCCGAGGATAGCTGGTCCCACCGCCAGGCAGGGCGCGACCCGCGCGGGCCCCCTCCCGACGCCCCGGGCGGGTTCCCACGCTCTGCGTCCCGCGCC... |
Task1_train_26879 | This alteration in CYP4F22 (cytochrome P450 family 4 subfamily F member 22) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Lamellar ichthyosis | TGAGCCTGACGGGGAAGGAGACACAGGAGCTGGAAAGGAGTCATTTGTTGGTTGAATCATTTGGCAATTGCTGAGCCTTATCACTGGCTAGGCACTGGGTTAGGCTCCTTTGTAGCTGAGCTCTTCTCTAATTCTCATAGCCTGTGAAGTGGGGATGGATCTGTCCTATTTCATGGATTCACACTTTTATGGATTTGAGCACAGAGAGGTTAAGTGGCTTGCTCAAAGTCACACAGCCGCTGAGGGTGGGTTTGAACTTGGATTTTTCTGACGTTGAGCCTGAAGCTTTCCTGCCTCATACAGCAGGTGAGGAAGTGCAG... | TGAGCCTGACGGGGAAGGAGACACAGGAGCTGGAAAGGAGTCATTTGTTGGTTGAATCATTTGGCAATTGCTGAGCCTTATCACTGGCTAGGCACTGGGTTAGGCTCCTTTGTAGCTGAGCTCTTCTCTAATTCTCATAGCCTGTGAAGTGGGGATGGATCTGTCCTATTTCATGGATTCACACTTTTATGGATTTGAGCACAGAGAGGTTAAGTGGCTTGCTCAAAGTCACACAGCCGCTGAGGGTGGGTTTGAACTTGGATTTTTCTGACGTTGAGCCTGAAGCTTTCCTGCCTCATACAGCAGGTGAGGAAGTGCAG... |
Task1_train_26880 | Gene CYP4F22 (cytochrome P450 family 4 subfamily F member 22), found on Chromosome 19, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Autosomal recessive congenital ichthyosis 5 | AGTATATAGAAGGAGGATCCATCCATTCATCCATCCACTCATTCATTCATTCATCCATCCACCTTCCACCTATCCACTCATTCATCCATCCATCCACTCATCCATCCATCCACCATCCACCCATCCATCCATTCATCCATCCATCCATCCACCCACCCACCATCTATCCATCTGCTATTCATCCATCCACTTATTTATCCATCCATGTACTCATCTGTCCCTCTACTCATCCATCCACCCATTTATTCTTTCATTCATCCATCCTTGGATTGACTTATTTATTCATTTAATAAAAATTTATCTAGCACAACATATCAGTA... | AGTATATAGAAGGAGGATCCATCCATTCATCCATCCACTCATTCATTCATTCATCCATCCACCTTCCACCTATCCACTCATTCATCCATCCATCCACTCATCCATCCATCCACCATCCACCCATCCATCCATTCATCCATCCATCCATCCACCCACCCACCATCTATCCATCTGCTATTCATCCATCCACTTATTTATCCATCCATGTACTCATCTGTCCCTCTACTCATCCATCCACCCATTTATTCTTTCATTCATCCATCCTTGGATTGACTTATTTATTCATTTAATAAAAATTTATCTAGCACAACATATCAGTA... |
Task1_train_26881 | Given this context: Chromosome 19, gene CYP4F22 (cytochrome P450 family 4 subfamily F member 22) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Autosomal recessive congenital ichthyosis 5 | TCCTGTTAAGGGGCTTGTAACTAAGTGGATACAATCCAGAGTGACTGCTGGGTCAGGGGTGGGGAGAAGCATTCAAGTTCTCATACAGGATGAGGGAAGAGTGTTTGGGGCAGAGAGAACAGCTGGTGGAAAGTCTCAGAGAAGAGAGAGCACGTGGTCTTTTTAAGGAGCTGAGAAAAGTTCTGTGGTGTGGCCGGGCATGGTGGCTTATGCCTGTAGTCCCAGCACTTTGGGAGGCTGAACTTGGAGGATCACTTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAATATGGCGATACCCTGTCCATACACAAAATTAA... | TCCTGTTAAGGGGCTTGTAACTAAGTGGATACAATCCAGAGTGACTGCTGGGTCAGGGGTGGGGAGAAGCATTCAAGTTCTCATACAGGATGAGGGAAGAGTGTTTGGGGCAGAGAGAACAGCTGGTGGAAAGTCTCAGAGAAGAGAGAGCACGTGGTCTTTTTAAGGAGCTGAGAAAAGTTCTGTGGTGTGGCCGGGCATGGTGGCTTATGCCTGTAGTCCCAGCACTTTGGGAGGCTGAACTTGGAGGATCACTTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAATATGGCGATACCCTGTCCATACACAAAATTAA... |
Task1_train_26882 | This mutation occurs in CYP4F22 (cytochrome P450 family 4 subfamily F member 22) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Autosomal recessive congenital ichthyosis 5 | GCACATAGTTGATGCTCAGAGAATATTTGTTGAGTAAATGAATCAAATAACCAATGCCTTGCTTCATTAATTCATTCATTCATCAAATATTCATTGTGCACCTACTACGTGCCTGGCACCATGATATTGCTGCTGAGAACAGGGTGGTGAACAACAGACAGTCACAGTTCTGTGAAGTTTATAGTCTAAGTGGGGACATAAGGAATAAGGGAGATAATTAATGCAAAACTTGCAACACATAGTAGGTCCTCAGTAACAAGCTAATGACTTCGTTACTCTAGGCATTATAGGGGCACGTTCCAGTTGGATAAGGCAGAGAT... | GCACATAGTTGATGCTCAGAGAATATTTGTTGAGTAAATGAATCAAATAACCAATGCCTTGCTTCATTAATTCATTCATTCATCAAATATTCATTGTGCACCTACTACGTGCCTGGCACCATGATATTGCTGCTGAGAACAGGGTGGTGAACAACAGACAGTCACAGTTCTGTGAAGTTTATAGTCTAAGTGGGGACATAAGGAATAAGGGAGATAATTAATGCAAAACTTGCAACACATAGTAGGTCCTCAGTAACAAGCTAATGACTTCGTTACTCTAGGCATTATAGGGGCACGTTCCAGTTGGATAAGGCAGAGAT... |
Task1_train_26883 | The following genetic variant occurs in CYP4F22 (cytochrome P450 family 4 subfamily F member 22) on Chromosome 19. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Autosomal recessive congenital ichthyosis 5 | GAGTAAATGAATCAAATAACCAATGCCTTGCTTCATTAATTCATTCATTCATCAAATATTCATTGTGCACCTACTACGTGCCTGGCACCATGATATTGCTGCTGAGAACAGGGTGGTGAACAACAGACAGTCACAGTTCTGTGAAGTTTATAGTCTAAGTGGGGACATAAGGAATAAGGGAGATAATTAATGCAAAACTTGCAACACATAGTAGGTCCTCAGTAACAAGCTAATGACTTCGTTACTCTAGGCATTATAGGGGCACGTTCCAGTTGGATAAGGCAGAGATTGTCTTAGAAATTAAATAATTAATTCATCCA... | GAGTAAATGAATCAAATAACCAATGCCTTGCTTCATTAATTCATTCATTCATCAAATATTCATTGTGCACCTACTACGTGCCTGGCACCATGATATTGCTGCTGAGAACAGGGTGGTGAACAACAGACAGTCACAGTTCTGTGAAGTTTATAGTCTAAGTGGGGACATAAGGAATAAGGGAGATAATTAATGCAAAACTTGCAACACATAGTAGGTCCTCAGTAACAAGCTAATGACTTCGTTACTCTAGGCATTATAGGGGCACGTTCCAGTTGGATAAGGCAGAGATTGTCTTAGAAATTAAATAATTAATTCATCCA... |
Task1_train_26884 | A variant was discovered in gene CYP4F22 (cytochrome P450 family 4 subfamily F member 22), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Lamellar ichthyosis | GAGTAAATGAATCAAATAACCAATGCCTTGCTTCATTAATTCATTCATTCATCAAATATTCATTGTGCACCTACTACGTGCCTGGCACCATGATATTGCTGCTGAGAACAGGGTGGTGAACAACAGACAGTCACAGTTCTGTGAAGTTTATAGTCTAAGTGGGGACATAAGGAATAAGGGAGATAATTAATGCAAAACTTGCAACACATAGTAGGTCCTCAGTAACAAGCTAATGACTTCGTTACTCTAGGCATTATAGGGGCACGTTCCAGTTGGATAAGGCAGAGATTGTCTTAGAAATTAAATAATTAATTCATCCA... | GAGTAAATGAATCAAATAACCAATGCCTTGCTTCATTAATTCATTCATTCATCAAATATTCATTGTGCACCTACTACGTGCCTGGCACCATGATATTGCTGCTGAGAACAGGGTGGTGAACAACAGACAGTCACAGTTCTGTGAAGTTTATAGTCTAAGTGGGGACATAAGGAATAAGGGAGATAATTAATGCAAAACTTGCAACACATAGTAGGTCCTCAGTAACAAGCTAATGACTTCGTTACTCTAGGCATTATAGGGGCACGTTCCAGTTGGATAAGGCAGAGATTGTCTTAGAAATTAAATAATTAATTCATCCA... |
Task1_train_26885 | Here is a mutation in CYP4F22 (cytochrome P450 family 4 subfamily F member 22) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Autosomal recessive congenital ichthyosis 5 | ACAACAGACAGTCACAGTTCTGTGAAGTTTATAGTCTAAGTGGGGACATAAGGAATAAGGGAGATAATTAATGCAAAACTTGCAACACATAGTAGGTCCTCAGTAACAAGCTAATGACTTCGTTACTCTAGGCATTATAGGGGCACGTTCCAGTTGGATAAGGCAGAGATTGTCTTAGAAATTAAATAATTAATTCATCCAAGAAATATTTACTGAGTGCCTAGTAAGTGCCAACCCTGAACTAGGTGCTGGGAACACCATATTCAACAAGAAAGACAAGATGTTGCTTTTCTAGAGCTTCCATTTTAGTAGGAAGACAG... | ACAACAGACAGTCACAGTTCTGTGAAGTTTATAGTCTAAGTGGGGACATAAGGAATAAGGGAGATAATTAATGCAAAACTTGCAACACATAGTAGGTCCTCAGTAACAAGCTAATGACTTCGTTACTCTAGGCATTATAGGGGCACGTTCCAGTTGGATAAGGCAGAGATTGTCTTAGAAATTAAATAATTAATTCATCCAAGAAATATTTACTGAGTGCCTAGTAAGTGCCAACCCTGAACTAGGTGCTGGGAACACCATATTCAACAAGAAAGACAAGATGTTGCTTTTCTAGAGCTTCCATTTTAGTAGGAAGACAG... |
Task1_train_26886 | Consider a variant on Chromosome 19 in gene CYP4F22 (cytochrome P450 family 4 subfamily F member 22). Determine its clinical classification and disease relevance. | Pathogenic; not specified | AATTAATGCAAAACTTGCAACACATAGTAGGTCCTCAGTAACAAGCTAATGACTTCGTTACTCTAGGCATTATAGGGGCACGTTCCAGTTGGATAAGGCAGAGATTGTCTTAGAAATTAAATAATTAATTCATCCAAGAAATATTTACTGAGTGCCTAGTAAGTGCCAACCCTGAACTAGGTGCTGGGAACACCATATTCAACAAGAAAGACAAGATGTTGCTTTTCTAGAGCTTCCATTTTAGTAGGAAGACAGGTAATAACCATGAACAAGTAAACAAACAAGAAAACGACAGACTGCAATAAGTGCATGAAAACAAG... | AATTAATGCAAAACTTGCAACACATAGTAGGTCCTCAGTAACAAGCTAATGACTTCGTTACTCTAGGCATTATAGGGGCACGTTCCAGTTGGATAAGGCAGAGATTGTCTTAGAAATTAAATAATTAATTCATCCAAGAAATATTTACTGAGTGCCTAGTAAGTGCCAACCCTGAACTAGGTGCTGGGAACACCATATTCAACAAGAAAGACAAGATGTTGCTTTTCTAGAGCTTCCATTTTAGTAGGAAGACAGGTAATAACCATGAACAAGTAAACAAACAAGAAAACGACAGACTGCAATAAGTGCATGAAAACAAG... |
Task1_train_26887 | A genetic alteration is present in CYP4F22 (cytochrome P450 family 4 subfamily F member 22) on Chromosome 19. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Autosomal recessive congenital ichthyosis 5 | ATGCAAAACTTGCAACACATAGTAGGTCCTCAGTAACAAGCTAATGACTTCGTTACTCTAGGCATTATAGGGGCACGTTCCAGTTGGATAAGGCAGAGATTGTCTTAGAAATTAAATAATTAATTCATCCAAGAAATATTTACTGAGTGCCTAGTAAGTGCCAACCCTGAACTAGGTGCTGGGAACACCATATTCAACAAGAAAGACAAGATGTTGCTTTTCTAGAGCTTCCATTTTAGTAGGAAGACAGGTAATAACCATGAACAAGTAAACAAACAAGAAAACGACAGACTGCAATAAGTGCATGAAAACAAGCCCAC... | ATGCAAAACTTGCAACACATAGTAGGTCCTCAGTAACAAGCTAATGACTTCGTTACTCTAGGCATTATAGGGGCACGTTCCAGTTGGATAAGGCAGAGATTGTCTTAGAAATTAAATAATTAATTCATCCAAGAAATATTTACTGAGTGCCTAGTAAGTGCCAACCCTGAACTAGGTGCTGGGAACACCATATTCAACAAGAAAGACAAGATGTTGCTTTTCTAGAGCTTCCATTTTAGTAGGAAGACAGGTAATAACCATGAACAAGTAAACAAACAAGAAAACGACAGACTGCAATAAGTGCATGAAAACAAGCCCAC... |
Task1_train_26888 | The gene CYP4F22 (cytochrome P450 family 4 subfamily F member 22) on Chromosome 19 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Autosomal recessive congenital ichthyosis 5 | TTCTGTCCCTCTTTACATCTTTCTTTTCTTTTTTCTTGTTTTTTAAAAATGTAATTTAAAGTTCCAGGATAAGCCGGGCGCAGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAAGCTGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACGAGCCTGGCCAACATATTGAAACACCGTCTCTACTAAAAATAAAAAAAAAATATTAGCCGGGCGTGGTGGCATGCATCTGTAATCCCAGCTCCTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGTAGTGAGCCAAGATTGCGCCAC... | TTCTGTCCCTCTTTACATCTTTCTTTTCTTTTTTCTTGTTTTTTAAAAATGTAATTTAAAGTTCCAGGATAAGCCGGGCGCAGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAAGCTGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACGAGCCTGGCCAACATATTGAAACACCGTCTCTACTAAAAATAAAAAAAAAATATTAGCCGGGCGTGGTGGCATGCATCTGTAATCCCAGCTCCTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGTAGTGAGCCAAGATTGCGCCAC... |
Task1_train_26889 | A variant on Chromosome 19 in gene CYP4F22 (cytochrome P450 family 4 subfamily F member 22) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Autosomal recessive congenital ichthyosis 5 | TGCCTCAGCCTCCTGAGTAGGTGGGACTATAGGAGTGTGCCACCACAACTGGCTAATTTTTAACATTTTTTTAAGAGATGGGGACTTGCTGTGTTGCCCAGGCTGCTCTCAAATCCCTGAGTGCAAGCAGTCCTCTTACTTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCAGCCATAAAGTTTCTTTGAAAGAGAACCTGGGCCAGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGCGGGTGGATCACTTGAGGCCAGAAATTCAAGACCAACCTGGGCAACATGGTG... | TGCCTCAGCCTCCTGAGTAGGTGGGACTATAGGAGTGTGCCACCACAACTGGCTAATTTTTAACATTTTTTTAAGAGATGGGGACTTGCTGTGTTGCCCAGGCTGCTCTCAAATCCCTGAGTGCAAGCAGTCCTCTTACTTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCAGCCATAAAGTTTCTTTGAAAGAGAACCTGGGCCAGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGCGGGTGGATCACTTGAGGCCAGAAATTCAAGACCAACCTGGGCAACATGGTG... |
Task1_train_26890 | This is a variant in CYP4F22 (cytochrome P450 family 4 subfamily F member 22), located on Chromosome 19. Is this mutation a likely cause of disease or not? | Pathogenic; Autosomal recessive congenital ichthyosis 5 | CAAGCAATTCTCTTGCCTCGGCCTCCCAAGTAGCTGAGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTGTTTTTTAGTAAAGATGGGGTTTTGCTATGTTGGCCAGACTGATCTTGAACTCCTGACCTCAGACGATCGCCCATCTCAGCCTCTGCAAGTGCTGGGATTACAGGCGAGAGCCACCACACCTGTCCTGCAGCAGTTTTTTAAGTACAGAAATGGACCATATAAACTGGCATATTGCTGTTGCCGTGAGTCCCCTTGGCTGTCCTGGCACCTCGCCTAGGTGCCCCTGGACCTCCACATAATTCA... | CAAGCAATTCTCTTGCCTCGGCCTCCCAAGTAGCTGAGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTGTTTTTTAGTAAAGATGGGGTTTTGCTATGTTGGCCAGACTGATCTTGAACTCCTGACCTCAGACGATCGCCCATCTCAGCCTCTGCAAGTGCTGGGATTACAGGCGAGAGCCACCACACCTGTCCTGCAGCAGTTTTTTAAGTACAGAAATGGACCATATAAACTGGCATATTGCTGTTGCCGTGAGTCCCCTTGGCTGTCCTGGCACCTCGCCTAGGTGCCCCTGGACCTCCACATAATTCA... |
Task1_train_26891 | Given this context: Chromosome 19, gene CYP4F22 (cytochrome P450 family 4 subfamily F member 22) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Lamellar ichthyosis | CAAGCAATTCTCTTGCCTCGGCCTCCCAAGTAGCTGAGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTGTTTTTTAGTAAAGATGGGGTTTTGCTATGTTGGCCAGACTGATCTTGAACTCCTGACCTCAGACGATCGCCCATCTCAGCCTCTGCAAGTGCTGGGATTACAGGCGAGAGCCACCACACCTGTCCTGCAGCAGTTTTTTAAGTACAGAAATGGACCATATAAACTGGCATATTGCTGTTGCCGTGAGTCCCCTTGGCTGTCCTGGCACCTCGCCTAGGTGCCCCTGGACCTCCACATAATTCA... | CAAGCAATTCTCTTGCCTCGGCCTCCCAAGTAGCTGAGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTGTTTTTTAGTAAAGATGGGGTTTTGCTATGTTGGCCAGACTGATCTTGAACTCCTGACCTCAGACGATCGCCCATCTCAGCCTCTGCAAGTGCTGGGATTACAGGCGAGAGCCACCACACCTGTCCTGCAGCAGTTTTTTAAGTACAGAAATGGACCATATAAACTGGCATATTGCTGTTGCCGTGAGTCCCCTTGGCTGTCCTGGCACCTCGCCTAGGTGCCCCTGGACCTCCACATAATTCA... |
Task1_train_26892 | Chromosome 19 houses a mutation in gene CYP4F22 (cytochrome P450 family 4 subfamily F member 22). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Autosomal recessive congenital ichthyosis 5 | GCAATTCTCTTGCCTCGGCCTCCCAAGTAGCTGAGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTGTTTTTTAGTAAAGATGGGGTTTTGCTATGTTGGCCAGACTGATCTTGAACTCCTGACCTCAGACGATCGCCCATCTCAGCCTCTGCAAGTGCTGGGATTACAGGCGAGAGCCACCACACCTGTCCTGCAGCAGTTTTTTAAGTACAGAAATGGACCATATAAACTGGCATATTGCTGTTGCCGTGAGTCCCCTTGGCTGTCCTGGCACCTCGCCTAGGTGCCCCTGGACCTCCACATAATTCATCA... | GCAATTCTCTTGCCTCGGCCTCCCAAGTAGCTGAGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTGTTTTTTAGTAAAGATGGGGTTTTGCTATGTTGGCCAGACTGATCTTGAACTCCTGACCTCAGACGATCGCCCATCTCAGCCTCTGCAAGTGCTGGGATTACAGGCGAGAGCCACCACACCTGTCCTGCAGCAGTTTTTTAAGTACAGAAATGGACCATATAAACTGGCATATTGCTGTTGCCGTGAGTCCCCTTGGCTGTCCTGGCACCTCGCCTAGGTGCCCCTGGACCTCCACATAATTCATCA... |
Task1_train_26893 | The gene CYP4F22 (cytochrome P450 family 4 subfamily F member 22) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Autosomal recessive congenital ichthyosis 5 | AATGGGCTAAAGGGAGAGACAGGGGCTGGAGTAGCTCCAATATGGAGAGGAATGCAGGGAGGGCTGCCTGGAGGAGGGAATGTGGGAGGTGAGGCTTGGAGTGTGGAAGTGAAAGAGTGAGCATGTTTATGGAGTAGAGCCTCAGGATGCAGATTTTGAAAGGCCTTGAGTGCCAGGTGATGGCGCTTGAACTCAATCCTGGGGGCAGCAGGGAGCCAAGGTAGGTGTTTGAGCTGAAGAGGAGCAATGTCAGATCTGCGAGTAAGAAAGATCCCTATGTGGCCAGCTTGGCAGCCAGAAAGAAGATGATAGGTTCCTCT... | AATGGGCTAAAGGGAGAGACAGGGGCTGGAGTAGCTCCAATATGGAGAGGAATGCAGGGAGGGCTGCCTGGAGGAGGGAATGTGGGAGGTGAGGCTTGGAGTGTGGAAGTGAAAGAGTGAGCATGTTTATGGAGTAGAGCCTCAGGATGCAGATTTTGAAAGGCCTTGAGTGCCAGGTGATGGCGCTTGAACTCAATCCTGGGGGCAGCAGGGAGCCAAGGTAGGTGTTTGAGCTGAAGAGGAGCAATGTCAGATCTGCGAGTAAGAAAGATCCCTATGTGGCCAGCTTGGCAGCCAGAAAGAAGATGATAGGTTCCTCT... |
Task1_train_26894 | Here is a mutation in CYP4F22 (cytochrome P450 family 4 subfamily F member 22) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Autosomal recessive congenital ichthyosis 5 | CCGCATTTAGCCATTTATTCACCCACTGATTGTTAATTCATTAGGGCAGAAAATATTTATTGAGCACCTACTGTGTGCCAGAGTGTGTGCTGGGCTCTGAAAATAGAGGATGATACTGTCTTTGCCTTTACAGGGCTCACAGTGAAGTTTTGGGGAAGACAATAAGCAAATAAATAAGATTTTGGGTATTGATACATGCACAAAAGAAAGAAAAACTGGGCCAGTTCCGGTTTACAGGTGCAGTGGCTCACACTTGTAATCCCAGCACTTTGAGAGGCTAAGGTGGGAGAATCGCTTGGGCCCAGGAGTTTGAGACCAGC... | CCGCATTTAGCCATTTATTCACCCACTGATTGTTAATTCATTAGGGCAGAAAATATTTATTGAGCACCTACTGTGTGCCAGAGTGTGTGCTGGGCTCTGAAAATAGAGGATGATACTGTCTTTGCCTTTACAGGGCTCACAGTGAAGTTTTGGGGAAGACAATAAGCAAATAAATAAGATTTTGGGTATTGATACATGCACAAAAGAAAGAAAAACTGGGCCAGTTCCGGTTTACAGGTGCAGTGGCTCACACTTGTAATCCCAGCACTTTGAGAGGCTAAGGTGGGAGAATCGCTTGGGCCCAGGAGTTTGAGACCAGC... |
Task1_train_26895 | An alteration has been detected in CYP4F22 (cytochrome P450 family 4 subfamily F member 22) on Chromosome 19. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Autosomal recessive congenital ichthyosis 5 | GGCAGAAAATATTTATTGAGCACCTACTGTGTGCCAGAGTGTGTGCTGGGCTCTGAAAATAGAGGATGATACTGTCTTTGCCTTTACAGGGCTCACAGTGAAGTTTTGGGGAAGACAATAAGCAAATAAATAAGATTTTGGGTATTGATACATGCACAAAAGAAAGAAAAACTGGGCCAGTTCCGGTTTACAGGTGCAGTGGCTCACACTTGTAATCCCAGCACTTTGAGAGGCTAAGGTGGGAGAATCGCTTGGGCCCAGGAGTTTGAGACCAGCCTGGGCAACACAGCGAGACCCCCCATCTCTACCAAAAAGGAAAA... | GGCAGAAAATATTTATTGAGCACCTACTGTGTGCCAGAGTGTGTGCTGGGCTCTGAAAATAGAGGATGATACTGTCTTTGCCTTTACAGGGCTCACAGTGAAGTTTTGGGGAAGACAATAAGCAAATAAATAAGATTTTGGGTATTGATACATGCACAAAAGAAAGAAAAACTGGGCCAGTTCCGGTTTACAGGTGCAGTGGCTCACACTTGTAATCCCAGCACTTTGAGAGGCTAAGGTGGGAGAATCGCTTGGGCCCAGGAGTTTGAGACCAGCCTGGGCAACACAGCGAGACCCCCCATCTCTACCAAAAAGGAAAA... |
Task1_train_26896 | Assess the clinical impact of this variant on gene CPAMD8 (C3 and PZP like alpha-2-macroglobulin domain containing 8), found on Chromosome 19. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Anterior segment dysgenesis 8 | ATTCATTTCAAAAACTGGCTGGGCGAGGTGGCTCACACCTGTAATCCCAGCACTTTGGGGGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTATCTACTAAAAAGACAAAAAAGTTAGTTGGGCATGATGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAGGAGAACCATTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCATTGCACTCCAGCCTGGGCGACAGGGTGAGACTCTGTCTCAAAAAAACAAAACAAAACAAAA... | ATTCATTTCAAAAACTGGCTGGGCGAGGTGGCTCACACCTGTAATCCCAGCACTTTGGGGGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTATCTACTAAAAAGACAAAAAAGTTAGTTGGGCATGATGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAGGAGAACCATTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCATTGCACTCCAGCCTGGGCGACAGGGTGAGACTCTGTCTCAAAAAAACAAAACAAAACAAAA... |
Task1_train_26897 | Given this context: Chromosome 19, gene GTPBP3 (GTP binding protein 3, mitochondrial) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | ACATATATATACATACATACATAAATGTTTCTATGTCCTATGTCTACATGGGACATACTAGTACTAAAAAATTATTCATTGTTTATTTGAAATTCACATTTAGCTGGGCGACCTGGGTTTTACCTGGCATTTGGCCAACCCCTGACTATTCTGAGTAGCTCAGTCTGTTAGACTGAAAGCCCAGCGAGGGTAGGAACGAGGGGCCAGGTCTGGTTCTCAATGCGAGCACACAGTAGGCGCTTGCTGTACGCTTGTTACAGATGTAACAACTAGCTTGTTACAGATGTAATAACTAGCTTGTTACAGATGTAACAACTAGA... | ACATATATATACATACATACATAAATGTTTCTATGTCCTATGTCTACATGGGACATACTAGTACTAAAAAATTATTCATTGTTTATTTGAAATTCACATTTAGCTGGGCGACCTGGGTTTTACCTGGCATTTGGCCAACCCCTGACTATTCTGAGTAGCTCAGTCTGTTAGACTGAAAGCCCAGCGAGGGTAGGAACGAGGGGCCAGGTCTGGTTCTCAATGCGAGCACACAGTAGGCGCTTGCTGTACGCTTGTTACAGATGTAACAACTAGCTTGTTACAGATGTAATAACTAGCTTGTTACAGATGTAACAACTAGA... |
Task1_train_26898 | Consider this mutation in GTPBP3 (GTP binding protein 3, mitochondrial) on Chromosome 19. Is this a benign change or a disease-causing variant? | Pathogenic; Combined oxidative phosphorylation defect type 23 | ATTCTGTCAGACAGATTTTTCTTAACACGCAAGTGCGCCGCCCGCCCGCTCTGATCCAGAACCAGAGAATCCGCCATGCGAAGGCGCTCCCGGAGACCCCGCCCAGCCAGTGCCTGGAATTCCACCATCAGCGCTTTATTCCGAGTTTCAGTGCTGTCCTGGGTTAACCTGAAAGCAATCTCCGAGGCTCCCCTTTCTGGCTTTCGGGGAGCCAGAGACTGACCGGACACTTGGCTCTGCAGGTGCAGACCTGGACCAGAGAGACAGAGAGCCAAGGAAGTCCACAGTGGAGAGAGGGCTGTGCTGGGGGTTCCAGGAAG... | ATTCTGTCAGACAGATTTTTCTTAACACGCAAGTGCGCCGCCCGCCCGCTCTGATCCAGAACCAGAGAATCCGCCATGCGAAGGCGCTCCCGGAGACCCCGCCCAGCCAGTGCCTGGAATTCCACCATCAGCGCTTTATTCCGAGTTTCAGTGCTGTCCTGGGTTAACCTGAAAGCAATCTCCGAGGCTCCCCTTTCTGGCTTTCGGGGAGCCAGAGACTGACCGGACACTTGGCTCTGCAGGTGCAGACCTGGACCAGAGAGACAGAGAGCCAAGGAAGTCCACAGTGGAGAGAGGGCTGTGCTGGGGGTTCCAGGAAG... |
Task1_train_26899 | Gene GTPBP3 (GTP binding protein 3, mitochondrial) on Chromosome 19 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Combined oxidative phosphorylation defect type 23 | GGTCTACCTGGTGGTGGGGGAGGAAGACACCTCATATCAGCCCTCAAAGGCTCCCCTCACTGTCTCTCTCTGCCTGCCTTCTCTCACCCACAGCCGACATCGAAGTACGGGCACTGCAGGTGGCCCTGGGTGCACATCTACGAGATGCCAGGCGCGGGCAGAGGCTCCGCTCAGGGGTGCACGTAGTGGTCACTGGACCCCCCAATGCGGGCAAGAGCAGCCTAGTGAACCTGCTCAGTGAGTAGGCGGCGGGAAGGGGGCGGGGCCTAGTGCCAGGGGCGGGGCCAAGAGCTGGGTTATTGAGTTAGTTGTTCAGGTCT... | GGTCTACCTGGTGGTGGGGGAGGAAGACACCTCATATCAGCCCTCAAAGGCTCCCCTCACTGTCTCTCTCTGCCTGCCTTCTCTCACCCACAGCCGACATCGAAGTACGGGCACTGCAGGTGGCCCTGGGTGCACATCTACGAGATGCCAGGCGCGGGCAGAGGCTCCGCTCAGGGGTGCACGTAGTGGTCACTGGACCCCCCAATGCGGGCAAGAGCAGCCTAGTGAACCTGCTCAGTGAGTAGGCGGCGGGAAGGGGGCGGGGCCTAGTGCCAGGGGCGGGGCCAAGAGCTGGGTTATTGAGTTAGTTGTTCAGGTCT... |
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