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_31600 | The gene MECP2 (methyl-CpG binding protein 2) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Rett syndrome | CTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCA... | CTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCA... |
Task1_train_31601 | Assess the clinical impact of this variant on gene MECP2 (methyl-CpG binding protein 2), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Rett syndrome | GCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGA... | GCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGA... |
Task1_train_31602 | This variant lies on Chromosome X and affects the gene MECP2 (methyl-CpG binding protein 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Rett syndrome | TTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCACTCTGTCACCCAGGCAGGAGTTCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACACGCTCAAGCCACCATGGCCAGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCGCCGTGTTAGCCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCACCCGCCTAGGCCTCCCAAAGCGCTGTGATTACAGGCATGAGCCACCTTGCCCAGCCACCTGATCAATTTTTAAG... | TTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCACTCTGTCACCCAGGCAGGAGTTCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACACGCTCAAGCCACCATGGCCAGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCGCCGTGTTAGCCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCACCCGCCTAGGCCTCCCAAAGCGCTGTGATTACAGGCATGAGCCACCTTGCCCAGCCACCTGATCAATTTTTAAG... |
Task1_train_31603 | Consider this mutation in MECP2 (methyl-CpG binding protein 2) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; Rett syndrome | TGAGACCGAGTCTCACTCTGTCACCCAGGCAGGAGTTCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACACGCTCAAGCCACCATGGCCAGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCGCCGTGTTAGCCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCACCCGCCTAGGCCTCCCAAAGCGCTGTGATTACAGGCATGAGCCACCTTGCCCAGCCACCTGATCAATTTTTAAGTGGTTTGATTTTTCTATAA... | TGAGACCGAGTCTCACTCTGTCACCCAGGCAGGAGTTCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACACGCTCAAGCCACCATGGCCAGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCGCCGTGTTAGCCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCACCCGCCTAGGCCTCCCAAAGCGCTGTGATTACAGGCATGAGCCACCTTGCCCAGCCACCTGATCAATTTTTAAGTGGTTTGATTTTTCTATAA... |
Task1_train_31604 | This mutation is located in gene LOC130068854, MECP2 (ATAC-STARR-seq lymphoblastoid silent region 21085| methyl-CpG binding protein 2) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; X-linked intellectual disability-psychosis-macroorchidism syndrome | TATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTA... | TATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTA... |
Task1_train_31605 | Consider a variant on Chromosome X in gene OPN1LW (opsin 1, long wave sensitive). Determine its clinical classification and disease relevance. | Pathogenic; Protan defect | CATGTGTTAAACGTATTAGTGACACCACTCAGTATTAAGGTATTAAATAACAGGATCCCGCCTGACAACCACTGTTATTTCAGAGTAGTGATGAACATAAGTGGTATTCGAACTCTCTGCCACCTCTATGAATTGACAGGAAAACATCTGTGACCTCTCTTGCTGACCGAGTCACGGGTACTGCTAATACTGCCACGTTCATAATGGAAGGAAATGCCCAGTGTCTGTTCGAGGTTGGTGGAAAGAAAGATGTCGTTTTTTCCACCTCAGTCCGTGGAGCCCTGAATTCTGTGTGCAGACGTTTGGGGTCTAAGCAGGAC... | CATGTGTTAAACGTATTAGTGACACCACTCAGTATTAAGGTATTAAATAACAGGATCCCGCCTGACAACCACTGTTATTTCAGAGTAGTGATGAACATAAGTGGTATTCGAACTCTCTGCCACCTCTATGAATTGACAGGAAAACATCTGTGACCTCTCTTGCTGACCGAGTCACGGGTACTGCTAATACTGCCACGTTCATAATGGAAGGAAATGCCCAGTGTCTGTTCGAGGTTGGTGGAAAGAAAGATGTCGTTTTTTCCACCTCAGTCCGTGGAGCCCTGAATTCTGTGTGCAGACGTTTGGGGTCTAAGCAGGAC... |
Task1_train_31606 | This mutation is located in gene OPN1LW (opsin 1, long wave sensitive) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Protan defect | GCCGTGCGCTCTTCCCTTCCGGTGGCCCTAGAACTATGGCTGCCGAGCTTCAGGGGCTCTCCTGGCGTTCAGACGCTCTAGGAGTTGGTGAGCCCTAGGTACATCCACCCTAGGTGTGCCCCTCTTCTGTTCAGACTCGACCCTTCTCAACCTTCATCTCTCCATTTTCAAACCGTAACCTCTGGAATTTGTCTTCCTATAAGAACAAAAGCCGGCCCTCCTTGGCTACACTGACCAAGAGTTCAAGAGCTTTCACGAGTTCGTGGGTTAGTTCAGGGGGGACGTGCTGTGGTCCTGCCCAGAGGCAGCCTCCTTAGCTG... | GCCGTGCGCTCTTCCCTTCCGGTGGCCCTAGAACTATGGCTGCCGAGCTTCAGGGGCTCTCCTGGCGTTCAGACGCTCTAGGAGTTGGTGAGCCCTAGGTACATCCACCCTAGGTGTGCCCCTCTTCTGTTCAGACTCGACCCTTCTCAACCTTCATCTCTCCATTTTCAAACCGTAACCTCTGGAATTTGTCTTCCTATAAGAACAAAAGCCGGCCCTCCTTGGCTACACTGACCAAGAGTTCAAGAGCTTTCACGAGTTCGTGGGTTAGTTCAGGGGGGACGTGCTGTGGTCCTGCCCAGAGGCAGCCTCCTTAGCTG... |
Task1_train_31607 | This gene mutation involves OPN1MW (opsin 1, medium wave sensitive) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Deuteranomaly | TTCCTTCTGCACGGAGACTGACGCCATGCAGGTCTTCAATTGTCAATGGTCTGTCCCTGCTGCTCATACTGGGGGTTCCTGGGGAGCCAGTGCCAGGTATCGGGATTGCAGACATTGTCTGTGGGTTTCCAGAAGCTCCTTGTGTTAGGAACATATGGGGCCCGTGCACAGAGGGCAGCAGAGGCCTTGTGGGATCCAGCTGTGCTAGGGGTGAGATTTATCTGTCTCTCCTGGCCATAGCCAGGAAATCCCCATTTTTCTTAAGCTAGCTTGAGTTGGGCTTTTCTAACACACAGCTAAAGAATCTCTTGATAAACCTT... | TTCCTTCTGCACGGAGACTGACGCCATGCAGGTCTTCAATTGTCAATGGTCTGTCCCTGCTGCTCATACTGGGGGTTCCTGGGGAGCCAGTGCCAGGTATCGGGATTGCAGACATTGTCTGTGGGTTTCCAGAAGCTCCTTGTGTTAGGAACATATGGGGCCCGTGCACAGAGGGCAGCAGAGGCCTTGTGGGATCCAGCTGTGCTAGGGGTGAGATTTATCTGTCTCTCCTGGCCATAGCCAGGAAATCCCCATTTTTCTTAAGCTAGCTTGAGTTGGGCTTTTCTAACACACAGCTAAAGAATCTCTTGATAAACCTT... |
Task1_train_31608 | A mutation found in OPN1MW (opsin 1, medium wave sensitive) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Cone dystrophy 5, X-linked | CGGCCACCTCATGATGATCGGGGCCCAGCTGCTCCTGTAGGCCTGTCTCCCTCCACATCTGCGCCTCACATCCATATACTGAAGGGTTCTGGAGGCTTCCATCTGAACACTCACATTAAATTCAGCTCCCTTGAGTCAAACATACCCTGAGTTCCTACTCTTGAGTCAGGCTCTGCCCGGGGACAGCCAGTTTGGAGCTGTGGGGCTGGTGTGGGAGGAGACAGATACAGAGCTAGACAACCCCAGAACAGTAGGGGGGCGGGGACTCTGGGCACCCTGGACAGAACTCCCCTGCAATTAGGGATGCCTGCTCTTTCAGC... | CGGCCACCTCATGATGATCGGGGCCCAGCTGCTCCTGTAGGCCTGTCTCCCTCCACATCTGCGCCTCACATCCATATACTGAAGGGTTCTGGAGGCTTCCATCTGAACACTCACATTAAATTCAGCTCCCTTGAGTCAAACATACCCTGAGTTCCTACTCTTGAGTCAGGCTCTGCCCGGGGACAGCCAGTTTGGAGCTGTGGGGCTGGTGTGGGAGGAGACAGATACAGAGCTAGACAACCCCAGAACAGTAGGGGGGCGGGGACTCTGGGCACCCTGGACAGAACTCCCCTGCAATTAGGGATGCCTGCTCTTTCAGC... |
Task1_train_31609 | This genomic variant is located on Chromosome X, within the OPN1MW (opsin 1, medium wave sensitive) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Cone monochromatism | CATGTGTTAAACGTATTAGTGACACCACTCAGTATTAAGGTATTAAATAACAGGATCCCGCCTGACAACCACTGTTATTTCAGAGTAGTGATGAACATAAGTGGTATTCGAACTCTCTGCCACCTCTATGAATTGACAGGAAAACATCTGTGACCTCTCTTGCTGACCGAGTCACGGGTACTGCTAATACTGCCACGTTCATAATGGAAGGAAATGCCCAGTGTCTGTTCGAGGTTGGTGGAAAGAAAGATGTCGTTTTTTCCACCTCAGTCCGTGGAGCCCTGAATTCTGTGTGCAGACGTTTGGGGTCTAAGCAGGAC... | CATGTGTTAAACGTATTAGTGACACCACTCAGTATTAAGGTATTAAATAACAGGATCCCGCCTGACAACCACTGTTATTTCAGAGTAGTGATGAACATAAGTGGTATTCGAACTCTCTGCCACCTCTATGAATTGACAGGAAAACATCTGTGACCTCTCTTGCTGACCGAGTCACGGGTACTGCTAATACTGCCACGTTCATAATGGAAGGAAATGCCCAGTGTCTGTTCGAGGTTGGTGGAAAGAAAGATGTCGTTTTTTCCACCTCAGTCCGTGGAGCCCTGAATTCTGTGTGCAGACGTTTGGGGTCTAAGCAGGAC... |
Task1_train_31610 | The gene OPN1MW (opsin 1, medium wave sensitive) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Deuteranomaly | CATGTGTTAAACGTATTAGTGACACCACTCAGTATTAAGGTATTAAATAACAGGATCCCGCCTGACAACCACTGTTATTTCAGAGTAGTGATGAACATAAGTGGTATTCGAACTCTCTGCCACCTCTATGAATTGACAGGAAAACATCTGTGACCTCTCTTGCTGACCGAGTCACGGGTACTGCTAATACTGCCACGTTCATAATGGAAGGAAATGCCCAGTGTCTGTTCGAGGTTGGTGGAAAGAAAGATGTCGTTTTTTCCACCTCAGTCCGTGGAGCCCTGAATTCTGTGTGCAGACGTTTGGGGTCTAAGCAGGAC... | CATGTGTTAAACGTATTAGTGACACCACTCAGTATTAAGGTATTAAATAACAGGATCCCGCCTGACAACCACTGTTATTTCAGAGTAGTGATGAACATAAGTGGTATTCGAACTCTCTGCCACCTCTATGAATTGACAGGAAAACATCTGTGACCTCTCTTGCTGACCGAGTCACGGGTACTGCTAATACTGCCACGTTCATAATGGAAGGAAATGCCCAGTGTCTGTTCGAGGTTGGTGGAAAGAAAGATGTCGTTTTTTCCACCTCAGTCCGTGGAGCCCTGAATTCTGTGTGCAGACGTTTGGGGTCTAAGCAGGAC... |
Task1_train_31611 | This variant lies on Chromosome X and affects the gene OPN1MW (opsin 1, medium wave sensitive). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Deuteranomaly | TGGCATTTCCCAAAGCGTCTGTGTGCCGTGTGCTCTTCCCTTCCGGTGGCCCTAGAACTATGGCTGCCGAGCTTCAGGGGCTCTCCTGGCGTTCAGACGCTCTAGGAGTTGGTGAGCCCTAGGTACATCCACCCTAGGTGTGCCCCTCTTCTGTTCAGACTCGACCCTTCTCAACCTTCATCTCTCCATTTTCAAACCGTAACCTCTGGAATTTGTCTTCCTATAAGAACAAAAGCCGGCCCTCCTTGGCTACACTGACCAAGAGTTCAAGAGCTTTCACGAGTTCGTGGGTTAGTTCAGGGGGGACGTGCTGTGGTCCT... | TGGCATTTCCCAAAGCGTCTGTGTGCCGTGTGCTCTTCCCTTCCGGTGGCCCTAGAACTATGGCTGCCGAGCTTCAGGGGCTCTCCTGGCGTTCAGACGCTCTAGGAGTTGGTGAGCCCTAGGTACATCCACCCTAGGTGTGCCCCTCTTCTGTTCAGACTCGACCCTTCTCAACCTTCATCTCTCCATTTTCAAACCGTAACCTCTGGAATTTGTCTTCCTATAAGAACAAAAGCCGGCCCTCCTTGGCTACACTGACCAAGAGTTCAAGAGCTTTCACGAGTTCGTGGGTTAGTTCAGGGGGGACGTGCTGTGGTCCT... |
Task1_train_31612 | This alteration in FLNA (filamin A) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Heterotopia, periventricular, with frontometaphyseal dysplasia | CATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCTGCCTCGGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCCGGGCCTGCTGTTGATTATCTGGCCACCTCCACCAGGGAGCCTTCCTGACACCACCCTACCCAGTAATGGGCTCTCCTGCCCAGCTCTTTGCCTCCTTGCTGCCTGGGCTCCATTCCAGGTTGCT... | CATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCTGCCTCGGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCCGGGCCTGCTGTTGATTATCTGGCCACCTCCACCAGGGAGCCTTCCTGACACCACCCTACCCAGTAATGGGCTCTCCTGCCCAGCTCTTTGCCTCCTTGCTGCCTGGGCTCCATTCCAGGTTGCT... |
Task1_train_31613 | This sequence variant lies in FLNA (filamin A) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Neurodevelopmental disorder | GGCTGCCCACGTGCTTCACCAGGATCTCCTCGCAGGGGGTCCTTGGGCCATGAACCCCCACCAGCAGCATGTTGTTGCCTGAGGCAAGAGGGGTCCTCAGTCCCAGGTCCCAGCCCCCTTCCTCCCGCTGGTGTCCTGCTCTCCTCTCCTGTCCCTAAGCCAGTTCTGGGGTGACAGTTCTCTCTTCCTAAAGAGCTGCCAGCACCTCCCCAACCCAGGCCAGCTTAGCAGATTCCAGCTCCTCCCTGGTCTTTGTTTGAGGGGTCCAGGAGGTGGCAGGGAGGTGGCTCTAGAAGTGAAAGCCACGCCCCAAAGGCGGT... | GGCTGCCCACGTGCTTCACCAGGATCTCCTCGCAGGGGGTCCTTGGGCCATGAACCCCCACCAGCAGCATGTTGTTGCCTGAGGCAAGAGGGGTCCTCAGTCCCAGGTCCCAGCCCCCTTCCTCCCGCTGGTGTCCTGCTCTCCTCTCCTGTCCCTAAGCCAGTTCTGGGGTGACAGTTCTCTCTTCCTAAAGAGCTGCCAGCACCTCCCCAACCCAGGCCAGCTTAGCAGATTCCAGCTCCTCCCTGGTCTTTGTTTGAGGGGTCCAGGAGGTGGCAGGGAGGTGGCTCTAGAAGTGAAAGCCACGCCCCAAAGGCGGT... |
Task1_train_31614 | This gene mutation involves FLNA (filamin A) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Otopalatodigital syndrome spectrum disorder | GTTGCCTGGCTCTGTGGGGCAGTAGGTGACCCTGCACGTCCCGTCCTCCAGGTCCTCTGTGTTGATGTCCACCTTGCTGGGGCCCTCAATGGACAGGCTGAGCCCACCATAGCCTAGGGGATGGATACCCCTGAGCCTCGGTGCTATGCACAGTGCTCCCGCCCCAGCTGGTGGGCAGCCACTGCCTACCTGCATCGCGGGTATCAATGATAAACTCTGCAGGCTCAAAGGTGTGGCCTTCGTGAAGGCCCTGACCAGAGACCCGAACACGACTGGCATCCCCAATTTCCGACTGGCTGATCACCACCGGGATGGGGCTG... | GTTGCCTGGCTCTGTGGGGCAGTAGGTGACCCTGCACGTCCCGTCCTCCAGGTCCTCTGTGTTGATGTCCACCTTGCTGGGGCCCTCAATGGACAGGCTGAGCCCACCATAGCCTAGGGGATGGATACCCCTGAGCCTCGGTGCTATGCACAGTGCTCCCGCCCCAGCTGGTGGGCAGCCACTGCCTACCTGCATCGCGGGTATCAATGATAAACTCTGCAGGCTCAAAGGTGTGGCCTTCGTGAAGGCCCTGACCAGAGACCCGAACACGACTGGCATCCCCAATTTCCGACTGGCTGATCACCACCGGGATGGGGCTG... |
Task1_train_31615 | Located on Chromosome X, this mutation impacts FLNA (filamin A). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Melnick-Needles syndrome | CCCTGTCCTTCCCTGCCCTCCTTGGTGCAGCTCCGCAGGGAGATCAGACACCAGCCACCCGCAGCCCACACTCCAGCCGCCCAGGCCCCCCTGCCTCCCCTGCCTGTGCCCGGAGCTCACCGTGATCTGGACAGCCAGCAGGCCCTCCCCGGCGTCCTTTGCATCGATGGTGAACTCCACGGGCAGGCTGGCAGGCACGCCAGTGGTGTTGAGCCCGGGGCCACTGGCCTTCACCTTGCTGGCATCATGAGTAGGCAGCACCTTGACCTTGAAGGGGCTGTGAGGGATTGGTGTTGTGAGCAGTCAGACAGGTTCTCAGC... | CCCTGTCCTTCCCTGCCCTCCTTGGTGCAGCTCCGCAGGGAGATCAGACACCAGCCACCCGCAGCCCACACTCCAGCCGCCCAGGCCCCCCTGCCTCCCCTGCCTGTGCCCGGAGCTCACCGTGATCTGGACAGCCAGCAGGCCCTCCCCGGCGTCCTTTGCATCGATGGTGAACTCCACGGGCAGGCTGGCAGGCACGCCAGTGGTGTTGAGCCCGGGGCCACTGGCCTTCACCTTGCTGGCATCATGAGTAGGCAGCACCTTGACCTTGAAGGGGCTGTGAGGGATTGGTGTTGTGAGCAGTCAGACAGGTTCTCAGC... |
Task1_train_31616 | A sequence alteration has been identified in FLNA (filamin A) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Heterotopia, periventricular, X-linked dominant | CCCTGTCCTTCCCTGCCCTCCTTGGTGCAGCTCCGCAGGGAGATCAGACACCAGCCACCCGCAGCCCACACTCCAGCCGCCCAGGCCCCCCTGCCTCCCCTGCCTGTGCCCGGAGCTCACCGTGATCTGGACAGCCAGCAGGCCCTCCCCGGCGTCCTTTGCATCGATGGTGAACTCCACGGGCAGGCTGGCAGGCACGCCAGTGGTGTTGAGCCCGGGGCCACTGGCCTTCACCTTGCTGGCATCATGAGTAGGCAGCACCTTGACCTTGAAGGGGCTGTGAGGGATTGGTGTTGTGAGCAGTCAGACAGGTTCTCAGC... | CCCTGTCCTTCCCTGCCCTCCTTGGTGCAGCTCCGCAGGGAGATCAGACACCAGCCACCCGCAGCCCACACTCCAGCCGCCCAGGCCCCCCTGCCTCCCCTGCCTGTGCCCGGAGCTCACCGTGATCTGGACAGCCAGCAGGCCCTCCCCGGCGTCCTTTGCATCGATGGTGAACTCCACGGGCAGGCTGGCAGGCACGCCAGTGGTGTTGAGCCCGGGGCCACTGGCCTTCACCTTGCTGGCATCATGAGTAGGCAGCACCTTGACCTTGAAGGGGCTGTGAGGGATTGGTGTTGTGAGCAGTCAGACAGGTTCTCAGC... |
Task1_train_31617 | This mutation is located in gene FLNA (filamin A) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Frontometaphyseal dysplasia | CCCTGTCCTTCCCTGCCCTCCTTGGTGCAGCTCCGCAGGGAGATCAGACACCAGCCACCCGCAGCCCACACTCCAGCCGCCCAGGCCCCCCTGCCTCCCCTGCCTGTGCCCGGAGCTCACCGTGATCTGGACAGCCAGCAGGCCCTCCCCGGCGTCCTTTGCATCGATGGTGAACTCCACGGGCAGGCTGGCAGGCACGCCAGTGGTGTTGAGCCCGGGGCCACTGGCCTTCACCTTGCTGGCATCATGAGTAGGCAGCACCTTGACCTTGAAGGGGCTGTGAGGGATTGGTGTTGTGAGCAGTCAGACAGGTTCTCAGC... | CCCTGTCCTTCCCTGCCCTCCTTGGTGCAGCTCCGCAGGGAGATCAGACACCAGCCACCCGCAGCCCACACTCCAGCCGCCCAGGCCCCCCTGCCTCCCCTGCCTGTGCCCGGAGCTCACCGTGATCTGGACAGCCAGCAGGCCCTCCCCGGCGTCCTTTGCATCGATGGTGAACTCCACGGGCAGGCTGGCAGGCACGCCAGTGGTGTTGAGCCCGGGGCCACTGGCCTTCACCTTGCTGGCATCATGAGTAGGCAGCACCTTGACCTTGAAGGGGCTGTGAGGGATTGGTGTTGTGAGCAGTCAGACAGGTTCTCAGC... |
Task1_train_31618 | Located on Chromosome X, this mutation impacts FLNA (filamin A). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Oto-palato-digital syndrome, type II | CCCTGTCCTTCCCTGCCCTCCTTGGTGCAGCTCCGCAGGGAGATCAGACACCAGCCACCCGCAGCCCACACTCCAGCCGCCCAGGCCCCCCTGCCTCCCCTGCCTGTGCCCGGAGCTCACCGTGATCTGGACAGCCAGCAGGCCCTCCCCGGCGTCCTTTGCATCGATGGTGAACTCCACGGGCAGGCTGGCAGGCACGCCAGTGGTGTTGAGCCCGGGGCCACTGGCCTTCACCTTGCTGGCATCATGAGTAGGCAGCACCTTGACCTTGAAGGGGCTGTGAGGGATTGGTGTTGTGAGCAGTCAGACAGGTTCTCAGC... | CCCTGTCCTTCCCTGCCCTCCTTGGTGCAGCTCCGCAGGGAGATCAGACACCAGCCACCCGCAGCCCACACTCCAGCCGCCCAGGCCCCCCTGCCTCCCCTGCCTGTGCCCGGAGCTCACCGTGATCTGGACAGCCAGCAGGCCCTCCCCGGCGTCCTTTGCATCGATGGTGAACTCCACGGGCAGGCTGGCAGGCACGCCAGTGGTGTTGAGCCCGGGGCCACTGGCCTTCACCTTGCTGGCATCATGAGTAGGCAGCACCTTGACCTTGAAGGGGCTGTGAGGGATTGGTGTTGTGAGCAGTCAGACAGGTTCTCAGC... |
Task1_train_31619 | A variant was discovered on Chromosome X, affecting FLNA (filamin A). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Melnick-Needles syndrome | CCAGCCGCCCAGGCCCCCCTGCCTCCCCTGCCTGTGCCCGGAGCTCACCGTGATCTGGACAGCCAGCAGGCCCTCCCCGGCGTCCTTTGCATCGATGGTGAACTCCACGGGCAGGCTGGCAGGCACGCCAGTGGTGTTGAGCCCGGGGCCACTGGCCTTCACCTTGCTGGCATCATGAGTAGGCAGCACCTTGACCTTGAAGGGGCTGTGAGGGATTGGTGTTGTGAGCAGTCAGACAGGTTCTCAGCATCCAGCCTGGGCCACTCCCCACAGGCAGCAGGCCCTGCCTCTTACCTCCGGGGTACCTCTTCATCTCCATA... | CCAGCCGCCCAGGCCCCCCTGCCTCCCCTGCCTGTGCCCGGAGCTCACCGTGATCTGGACAGCCAGCAGGCCCTCCCCGGCGTCCTTTGCATCGATGGTGAACTCCACGGGCAGGCTGGCAGGCACGCCAGTGGTGTTGAGCCCGGGGCCACTGGCCTTCACCTTGCTGGCATCATGAGTAGGCAGCACCTTGACCTTGAAGGGGCTGTGAGGGATTGGTGTTGTGAGCAGTCAGACAGGTTCTCAGCATCCAGCCTGGGCCACTCCCCACAGGCAGCAGGCCCTGCCTCTTACCTCCGGGGTACCTCTTCATCTCCATA... |
Task1_train_31620 | A variant found in Chromosome X affects FLNA (filamin A). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Frontometaphyseal dysplasia | CCAGCCGCCCAGGCCCCCCTGCCTCCCCTGCCTGTGCCCGGAGCTCACCGTGATCTGGACAGCCAGCAGGCCCTCCCCGGCGTCCTTTGCATCGATGGTGAACTCCACGGGCAGGCTGGCAGGCACGCCAGTGGTGTTGAGCCCGGGGCCACTGGCCTTCACCTTGCTGGCATCATGAGTAGGCAGCACCTTGACCTTGAAGGGGCTGTGAGGGATTGGTGTTGTGAGCAGTCAGACAGGTTCTCAGCATCCAGCCTGGGCCACTCCCCACAGGCAGCAGGCCCTGCCTCTTACCTCCGGGGTACCTCTTCATCTCCATA... | CCAGCCGCCCAGGCCCCCCTGCCTCCCCTGCCTGTGCCCGGAGCTCACCGTGATCTGGACAGCCAGCAGGCCCTCCCCGGCGTCCTTTGCATCGATGGTGAACTCCACGGGCAGGCTGGCAGGCACGCCAGTGGTGTTGAGCCCGGGGCCACTGGCCTTCACCTTGCTGGCATCATGAGTAGGCAGCACCTTGACCTTGAAGGGGCTGTGAGGGATTGGTGTTGTGAGCAGTCAGACAGGTTCTCAGCATCCAGCCTGGGCCACTCCCCACAGGCAGCAGGCCCTGCCTCTTACCTCCGGGGTACCTCTTCATCTCCATA... |
Task1_train_31621 | Given this context: Chromosome X, gene FLNA (filamin A) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Heterotopia, periventricular, X-linked dominant | CCAGCCGCCCAGGCCCCCCTGCCTCCCCTGCCTGTGCCCGGAGCTCACCGTGATCTGGACAGCCAGCAGGCCCTCCCCGGCGTCCTTTGCATCGATGGTGAACTCCACGGGCAGGCTGGCAGGCACGCCAGTGGTGTTGAGCCCGGGGCCACTGGCCTTCACCTTGCTGGCATCATGAGTAGGCAGCACCTTGACCTTGAAGGGGCTGTGAGGGATTGGTGTTGTGAGCAGTCAGACAGGTTCTCAGCATCCAGCCTGGGCCACTCCCCACAGGCAGCAGGCCCTGCCTCTTACCTCCGGGGTACCTCTTCATCTCCATA... | CCAGCCGCCCAGGCCCCCCTGCCTCCCCTGCCTGTGCCCGGAGCTCACCGTGATCTGGACAGCCAGCAGGCCCTCCCCGGCGTCCTTTGCATCGATGGTGAACTCCACGGGCAGGCTGGCAGGCACGCCAGTGGTGTTGAGCCCGGGGCCACTGGCCTTCACCTTGCTGGCATCATGAGTAGGCAGCACCTTGACCTTGAAGGGGCTGTGAGGGATTGGTGTTGTGAGCAGTCAGACAGGTTCTCAGCATCCAGCCTGGGCCACTCCCCACAGGCAGCAGGCCCTGCCTCTTACCTCCGGGGTACCTCTTCATCTCCATA... |
Task1_train_31622 | This sequence change occurs on Chromosome X, altering FLNA (filamin A). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Oto-palato-digital syndrome, type II | CCAGCCGCCCAGGCCCCCCTGCCTCCCCTGCCTGTGCCCGGAGCTCACCGTGATCTGGACAGCCAGCAGGCCCTCCCCGGCGTCCTTTGCATCGATGGTGAACTCCACGGGCAGGCTGGCAGGCACGCCAGTGGTGTTGAGCCCGGGGCCACTGGCCTTCACCTTGCTGGCATCATGAGTAGGCAGCACCTTGACCTTGAAGGGGCTGTGAGGGATTGGTGTTGTGAGCAGTCAGACAGGTTCTCAGCATCCAGCCTGGGCCACTCCCCACAGGCAGCAGGCCCTGCCTCTTACCTCCGGGGTACCTCTTCATCTCCATA... | CCAGCCGCCCAGGCCCCCCTGCCTCCCCTGCCTGTGCCCGGAGCTCACCGTGATCTGGACAGCCAGCAGGCCCTCCCCGGCGTCCTTTGCATCGATGGTGAACTCCACGGGCAGGCTGGCAGGCACGCCAGTGGTGTTGAGCCCGGGGCCACTGGCCTTCACCTTGCTGGCATCATGAGTAGGCAGCACCTTGACCTTGAAGGGGCTGTGAGGGATTGGTGTTGTGAGCAGTCAGACAGGTTCTCAGCATCCAGCCTGGGCCACTCCCCACAGGCAGCAGGCCCTGCCTCTTACCTCCGGGGTACCTCTTCATCTCCATA... |
Task1_train_31623 | The variant affects gene FLNA (filamin A), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Melnick-Needles syndrome | CCAGCCGCCCAGGCCCCCCTGCCTCCCCTGCCTGTGCCCGGAGCTCACCGTGATCTGGACAGCCAGCAGGCCCTCCCCGGCGTCCTTTGCATCGATGGTGAACTCCACGGGCAGGCTGGCAGGCACGCCAGTGGTGTTGAGCCCGGGGCCACTGGCCTTCACCTTGCTGGCATCATGAGTAGGCAGCACCTTGACCTTGAAGGGGCTGTGAGGGATTGGTGTTGTGAGCAGTCAGACAGGTTCTCAGCATCCAGCCTGGGCCACTCCCCACAGGCAGCAGGCCCTGCCTCTTACCTCCGGGGTACCTCTTCATCTCCATA... | CCAGCCGCCCAGGCCCCCCTGCCTCCCCTGCCTGTGCCCGGAGCTCACCGTGATCTGGACAGCCAGCAGGCCCTCCCCGGCGTCCTTTGCATCGATGGTGAACTCCACGGGCAGGCTGGCAGGCACGCCAGTGGTGTTGAGCCCGGGGCCACTGGCCTTCACCTTGCTGGCATCATGAGTAGGCAGCACCTTGACCTTGAAGGGGCTGTGAGGGATTGGTGTTGTGAGCAGTCAGACAGGTTCTCAGCATCCAGCCTGGGCCACTCCCCACAGGCAGCAGGCCCTGCCTCTTACCTCCGGGGTACCTCTTCATCTCCATA... |
Task1_train_31624 | A variant affecting Chromosome X, within the gene FLNA (filamin A), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Melnick-Needles syndrome | TGCCCGGAGCTCACCGTGATCTGGACAGCCAGCAGGCCCTCCCCGGCGTCCTTTGCATCGATGGTGAACTCCACGGGCAGGCTGGCAGGCACGCCAGTGGTGTTGAGCCCGGGGCCACTGGCCTTCACCTTGCTGGCATCATGAGTAGGCAGCACCTTGACCTTGAAGGGGCTGTGAGGGATTGGTGTTGTGAGCAGTCAGACAGGTTCTCAGCATCCAGCCTGGGCCACTCCCCACAGGCAGCAGGCCCTGCCTCTTACCTCCGGGGTACCTCTTCATCTCCATACAGTACTGAGATGCTGTAGGGCCCTTCTCGGCTG... | TGCCCGGAGCTCACCGTGATCTGGACAGCCAGCAGGCCCTCCCCGGCGTCCTTTGCATCGATGGTGAACTCCACGGGCAGGCTGGCAGGCACGCCAGTGGTGTTGAGCCCGGGGCCACTGGCCTTCACCTTGCTGGCATCATGAGTAGGCAGCACCTTGACCTTGAAGGGGCTGTGAGGGATTGGTGTTGTGAGCAGTCAGACAGGTTCTCAGCATCCAGCCTGGGCCACTCCCCACAGGCAGCAGGCCCTGCCTCTTACCTCCGGGGTACCTCTTCATCTCCATACAGTACTGAGATGCTGTAGGGCCCTTCTCGGCTG... |
Task1_train_31625 | A variant was discovered on Chromosome X, affecting FLNA (filamin A). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Frontometaphyseal dysplasia 1 | AGGCACGCCAGTGGTGTTGAGCCCGGGGCCACTGGCCTTCACCTTGCTGGCATCATGAGTAGGCAGCACCTTGACCTTGAAGGGGCTGTGAGGGATTGGTGTTGTGAGCAGTCAGACAGGTTCTCAGCATCCAGCCTGGGCCACTCCCCACAGGCAGCAGGCCCTGCCTCTTACCTCCGGGGTACCTCTTCATCTCCATACAGTACTGAGATGCTGTAGGGCCCTTCTCGGCTGGGCACATAATTGACGGTCTGGGTGCCATCAGCGTTGTCTACCACGTCCACTGGCTCCACCAGGCCTGGCCCCAGCCCCAGGGACAG... | AGGCACGCCAGTGGTGTTGAGCCCGGGGCCACTGGCCTTCACCTTGCTGGCATCATGAGTAGGCAGCACCTTGACCTTGAAGGGGCTGTGAGGGATTGGTGTTGTGAGCAGTCAGACAGGTTCTCAGCATCCAGCCTGGGCCACTCCCCACAGGCAGCAGGCCCTGCCTCTTACCTCCGGGGTACCTCTTCATCTCCATACAGTACTGAGATGCTGTAGGGCCCTTCTCGGCTGGGCACATAATTGACGGTCTGGGTGCCATCAGCGTTGTCTACCACGTCCACTGGCTCCACCAGGCCTGGCCCCAGCCCCAGGGACAG... |
Task1_train_31626 | A variant was discovered on Chromosome X, affecting FLNA (filamin A). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Cardiac valvular dysplasia, X-linked | AACCTGCCATGGGGTACCTGTCCTCACCAGTGCGACTGAGGCCAGGGCCCTCGGCCTTCACCTTACTGGCGTCATGAGAGGGCTCCACCTTGACTCGGATGGGGCTGGTGGGCGTGGCCTGCAGGCAGTGGGAGGAGAAGGCCTTAGAGGAGGGCAGACGTCATCCGCAATGACATCTTAGCGGCCAGGAGCGCAGCACCCACCTGGTCAGCAAAGAGGACCATAATGGTGTAGCTGCCAGCCCCCCGGGGCGTGTACTTGACCGTGAAGGTGTCATTGTCATTGCGGATGATGTCGAAGTCGATGTCAGCTTCGGCGGG... | AACCTGCCATGGGGTACCTGTCCTCACCAGTGCGACTGAGGCCAGGGCCCTCGGCCTTCACCTTACTGGCGTCATGAGAGGGCTCCACCTTGACTCGGATGGGGCTGGTGGGCGTGGCCTGCAGGCAGTGGGAGGAGAAGGCCTTAGAGGAGGGCAGACGTCATCCGCAATGACATCTTAGCGGCCAGGAGCGCAGCACCCACCTGGTCAGCAAAGAGGACCATAATGGTGTAGCTGCCAGCCCCCCGGGGCGTGTACTTGACCGTGAAGGTGTCATTGTCATTGCGGATGATGTCGAAGTCGATGTCAGCTTCGGCGGG... |
Task1_train_31627 | A variant affecting Chromosome X, within the gene FLNA (filamin A), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Cardiac valvular dysplasia, X-linked | AGAGGAGCGGAGGCTGAGACCTCGCAGGGACACCCCAGCCACCTGCCCTCCCACCCACAGCCAGGCCTTACCCTGGCCAGCCTCGGCGCAGTCCACAGTGAAGTAGGTGGGCTCGTGGGCCTTGAGCCCTGTCTTGGCTACTCCGGGGCCGTATACTTTGACCTTGTTGGGGTGGCTGCCAGCTCCCACATTCACCTGCAGGGCACAGGGGCAAGGGCAAGGGCATGAGCAGCCTGGAGGAGACTCAGAAGCTCCCTCAGCTACACTGGCAGGCACACAAAATGGTCCAGCTGCCTTGGGAAGAGTCTGGCAGTTCCTCA... | AGAGGAGCGGAGGCTGAGACCTCGCAGGGACACCCCAGCCACCTGCCCTCCCACCCACAGCCAGGCCTTACCCTGGCCAGCCTCGGCGCAGTCCACAGTGAAGTAGGTGGGCTCGTGGGCCTTGAGCCCTGTCTTGGCTACTCCGGGGCCGTATACTTTGACCTTGTTGGGGTGGCTGCCAGCTCCCACATTCACCTGCAGGGCACAGGGGCAAGGGCAAGGGCATGAGCAGCCTGGAGGAGACTCAGAAGCTCCCTCAGCTACACTGGCAGGCACACAAAATGGTCCAGCTGCCTTGGGAAGAGTCTGGCAGTTCCTCA... |
Task1_train_31628 | A mutation on Chromosome X affecting FLNA (filamin A) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Cardiac valvular dysplasia, X-linked | AGAGGAGCGGAGGCTGAGACCTCGCAGGGACACCCCAGCCACCTGCCCTCCCACCCACAGCCAGGCCTTACCCTGGCCAGCCTCGGCGCAGTCCACAGTGAAGTAGGTGGGCTCGTGGGCCTTGAGCCCTGTCTTGGCTACTCCGGGGCCGTATACTTTGACCTTGTTGGGGTGGCTGCCAGCTCCCACATTCACCTGCAGGGCACAGGGGCAAGGGCAAGGGCATGAGCAGCCTGGAGGAGACTCAGAAGCTCCCTCAGCTACACTGGCAGGCACACAAAATGGTCCAGCTGCCTTGGGAAGAGTCTGGCAGTTCCTCA... | AGAGGAGCGGAGGCTGAGACCTCGCAGGGACACCCCAGCCACCTGCCCTCCCACCCACAGCCAGGCCTTACCCTGGCCAGCCTCGGCGCAGTCCACAGTGAAGTAGGTGGGCTCGTGGGCCTTGAGCCCTGTCTTGGCTACTCCGGGGCCGTATACTTTGACCTTGTTGGGGTGGCTGCCAGCTCCCACATTCACCTGCAGGGCACAGGGGCAAGGGCAAGGGCATGAGCAGCCTGGAGGAGACTCAGAAGCTCCCTCAGCTACACTGGCAGGCACACAAAATGGTCCAGCTGCCTTGGGAAGAGTCTGGCAGTTCCTCA... |
Task1_train_31629 | The following genetic variant occurs in FLNA (filamin A) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Melnick-Needles syndrome | CCTTCACGGTGACCTTCAGCTCCCCACTGCCAGCGCCCTTTGTGTACACCTTGAAGTCAGCTGTCTCCTTCACCCGCACACCCTTGGGCTGGAGGCCCCGGCCAACCGCCCGGCAGGCACTCGGGTTACAGGCTGCAGGCAGAGGGGCCAGCTGAGCACCAGCAGCTCGGCTGGGCGACCCCTCCCTTGCCTCCCACAGGGCCGGGCTGTCAGGATTGGTGGGTCCCTCAGAGCTTGGCTGGAGGGGGACATGCAAGACAGAACTGGAAGGGACTGTGACCCCAGGAACTGTGGCCTGGGCCAGGACATGGCAGGCCTCC... | CCTTCACGGTGACCTTCAGCTCCCCACTGCCAGCGCCCTTTGTGTACACCTTGAAGTCAGCTGTCTCCTTCACCCGCACACCCTTGGGCTGGAGGCCCCGGCCAACCGCCCGGCAGGCACTCGGGTTACAGGCTGCAGGCAGAGGGGCCAGCTGAGCACCAGCAGCTCGGCTGGGCGACCCCTCCCTTGCCTCCCACAGGGCCGGGCTGTCAGGATTGGTGGGTCCCTCAGAGCTTGGCTGGAGGGGGACATGCAAGACAGAACTGGAAGGGACTGTGACCCCAGGAACTGTGGCCTGGGCCAGGACATGGCAGGCCTCC... |
Task1_train_31630 | This variant impacts the gene FLNA (filamin A) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Frontometaphyseal dysplasia | CCTTCACGGTGACCTTCAGCTCCCCACTGCCAGCGCCCTTTGTGTACACCTTGAAGTCAGCTGTCTCCTTCACCCGCACACCCTTGGGCTGGAGGCCCCGGCCAACCGCCCGGCAGGCACTCGGGTTACAGGCTGCAGGCAGAGGGGCCAGCTGAGCACCAGCAGCTCGGCTGGGCGACCCCTCCCTTGCCTCCCACAGGGCCGGGCTGTCAGGATTGGTGGGTCCCTCAGAGCTTGGCTGGAGGGGGACATGCAAGACAGAACTGGAAGGGACTGTGACCCCAGGAACTGTGGCCTGGGCCAGGACATGGCAGGCCTCC... | CCTTCACGGTGACCTTCAGCTCCCCACTGCCAGCGCCCTTTGTGTACACCTTGAAGTCAGCTGTCTCCTTCACCCGCACACCCTTGGGCTGGAGGCCCCGGCCAACCGCCCGGCAGGCACTCGGGTTACAGGCTGCAGGCAGAGGGGCCAGCTGAGCACCAGCAGCTCGGCTGGGCGACCCCTCCCTTGCCTCCCACAGGGCCGGGCTGTCAGGATTGGTGGGTCCCTCAGAGCTTGGCTGGAGGGGGACATGCAAGACAGAACTGGAAGGGACTGTGACCCCAGGAACTGTGGCCTGGGCCAGGACATGGCAGGCCTCC... |
Task1_train_31631 | The gene FLNA (filamin A) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Heterotopia, periventricular, X-linked dominant | CCTTCACGGTGACCTTCAGCTCCCCACTGCCAGCGCCCTTTGTGTACACCTTGAAGTCAGCTGTCTCCTTCACCCGCACACCCTTGGGCTGGAGGCCCCGGCCAACCGCCCGGCAGGCACTCGGGTTACAGGCTGCAGGCAGAGGGGCCAGCTGAGCACCAGCAGCTCGGCTGGGCGACCCCTCCCTTGCCTCCCACAGGGCCGGGCTGTCAGGATTGGTGGGTCCCTCAGAGCTTGGCTGGAGGGGGACATGCAAGACAGAACTGGAAGGGACTGTGACCCCAGGAACTGTGGCCTGGGCCAGGACATGGCAGGCCTCC... | CCTTCACGGTGACCTTCAGCTCCCCACTGCCAGCGCCCTTTGTGTACACCTTGAAGTCAGCTGTCTCCTTCACCCGCACACCCTTGGGCTGGAGGCCCCGGCCAACCGCCCGGCAGGCACTCGGGTTACAGGCTGCAGGCAGAGGGGCCAGCTGAGCACCAGCAGCTCGGCTGGGCGACCCCTCCCTTGCCTCCCACAGGGCCGGGCTGTCAGGATTGGTGGGTCCCTCAGAGCTTGGCTGGAGGGGGACATGCAAGACAGAACTGGAAGGGACTGTGACCCCAGGAACTGTGGCCTGGGCCAGGACATGGCAGGCCTCC... |
Task1_train_31632 | Gene FLNA (filamin A) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Oto-palato-digital syndrome, type II | CCTTCACGGTGACCTTCAGCTCCCCACTGCCAGCGCCCTTTGTGTACACCTTGAAGTCAGCTGTCTCCTTCACCCGCACACCCTTGGGCTGGAGGCCCCGGCCAACCGCCCGGCAGGCACTCGGGTTACAGGCTGCAGGCAGAGGGGCCAGCTGAGCACCAGCAGCTCGGCTGGGCGACCCCTCCCTTGCCTCCCACAGGGCCGGGCTGTCAGGATTGGTGGGTCCCTCAGAGCTTGGCTGGAGGGGGACATGCAAGACAGAACTGGAAGGGACTGTGACCCCAGGAACTGTGGCCTGGGCCAGGACATGGCAGGCCTCC... | CCTTCACGGTGACCTTCAGCTCCCCACTGCCAGCGCCCTTTGTGTACACCTTGAAGTCAGCTGTCTCCTTCACCCGCACACCCTTGGGCTGGAGGCCCCGGCCAACCGCCCGGCAGGCACTCGGGTTACAGGCTGCAGGCAGAGGGGCCAGCTGAGCACCAGCAGCTCGGCTGGGCGACCCCTCCCTTGCCTCCCACAGGGCCGGGCTGTCAGGATTGGTGGGTCCCTCAGAGCTTGGCTGGAGGGGGACATGCAAGACAGAACTGGAAGGGACTGTGACCCCAGGAACTGTGGCCTGGGCCAGGACATGGCAGGCCTCC... |
Task1_train_31633 | This mutation occurs in FLNA (filamin A) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Heterotopia, periventricular, X-linked dominant | CCTTCACGGTGACCTTCAGCTCCCCACTGCCAGCGCCCTTTGTGTACACCTTGAAGTCAGCTGTCTCCTTCACCCGCACACCCTTGGGCTGGAGGCCCCGGCCAACCGCCCGGCAGGCACTCGGGTTACAGGCTGCAGGCAGAGGGGCCAGCTGAGCACCAGCAGCTCGGCTGGGCGACCCCTCCCTTGCCTCCCACAGGGCCGGGCTGTCAGGATTGGTGGGTCCCTCAGAGCTTGGCTGGAGGGGGACATGCAAGACAGAACTGGAAGGGACTGTGACCCCAGGAACTGTGGCCTGGGCCAGGACATGGCAGGCCTCC... | CCTTCACGGTGACCTTCAGCTCCCCACTGCCAGCGCCCTTTGTGTACACCTTGAAGTCAGCTGTCTCCTTCACCCGCACACCCTTGGGCTGGAGGCCCCGGCCAACCGCCCGGCAGGCACTCGGGTTACAGGCTGCAGGCAGAGGGGCCAGCTGAGCACCAGCAGCTCGGCTGGGCGACCCCTCCCTTGCCTCCCACAGGGCCGGGCTGTCAGGATTGGTGGGTCCCTCAGAGCTTGGCTGGAGGGGGACATGCAAGACAGAACTGGAAGGGACTGTGACCCCAGGAACTGTGGCCTGGGCCAGGACATGGCAGGCCTCC... |
Task1_train_31634 | This genomic variant is located on Chromosome X, within the FLNA (filamin A) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Frontometaphyseal dysplasia | CAACCGCCCGGCAGGCACTCGGGTTACAGGCTGCAGGCAGAGGGGCCAGCTGAGCACCAGCAGCTCGGCTGGGCGACCCCTCCCTTGCCTCCCACAGGGCCGGGCTGTCAGGATTGGTGGGTCCCTCAGAGCTTGGCTGGAGGGGGACATGCAAGACAGAACTGGAAGGGACTGTGACCCCAGGAACTGTGGCCTGGGCCAGGACATGGCAGGCCTCCTCCCACCTGCTCCACACCAGCCCAGAGCCCCCCACCCTCCCCCTTCCAAGAAGAAGACAGATCCAAGTACCGTTGACCCTGTGGGCAGAGCAGAGAGCAGCA... | CAACCGCCCGGCAGGCACTCGGGTTACAGGCTGCAGGCAGAGGGGCCAGCTGAGCACCAGCAGCTCGGCTGGGCGACCCCTCCCTTGCCTCCCACAGGGCCGGGCTGTCAGGATTGGTGGGTCCCTCAGAGCTTGGCTGGAGGGGGACATGCAAGACAGAACTGGAAGGGACTGTGACCCCAGGAACTGTGGCCTGGGCCAGGACATGGCAGGCCTCCTCCCACCTGCTCCACACCAGCCCAGAGCCCCCCACCCTCCCCCTTCCAAGAAGAAGACAGATCCAAGTACCGTTGACCCTGTGGGCAGAGCAGAGAGCAGCA... |
Task1_train_31635 | The variant affects gene FLNA (filamin A), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Heterotopia, periventricular, X-linked dominant | CAACCGCCCGGCAGGCACTCGGGTTACAGGCTGCAGGCAGAGGGGCCAGCTGAGCACCAGCAGCTCGGCTGGGCGACCCCTCCCTTGCCTCCCACAGGGCCGGGCTGTCAGGATTGGTGGGTCCCTCAGAGCTTGGCTGGAGGGGGACATGCAAGACAGAACTGGAAGGGACTGTGACCCCAGGAACTGTGGCCTGGGCCAGGACATGGCAGGCCTCCTCCCACCTGCTCCACACCAGCCCAGAGCCCCCCACCCTCCCCCTTCCAAGAAGAAGACAGATCCAAGTACCGTTGACCCTGTGGGCAGAGCAGAGAGCAGCA... | CAACCGCCCGGCAGGCACTCGGGTTACAGGCTGCAGGCAGAGGGGCCAGCTGAGCACCAGCAGCTCGGCTGGGCGACCCCTCCCTTGCCTCCCACAGGGCCGGGCTGTCAGGATTGGTGGGTCCCTCAGAGCTTGGCTGGAGGGGGACATGCAAGACAGAACTGGAAGGGACTGTGACCCCAGGAACTGTGGCCTGGGCCAGGACATGGCAGGCCTCCTCCCACCTGCTCCACACCAGCCCAGAGCCCCCCACCCTCCCCCTTCCAAGAAGAAGACAGATCCAAGTACCGTTGACCCTGTGGGCAGAGCAGAGAGCAGCA... |
Task1_train_31636 | Chromosome X houses a mutation in gene FLNA (filamin A). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Oto-palato-digital syndrome, type II | CAACCGCCCGGCAGGCACTCGGGTTACAGGCTGCAGGCAGAGGGGCCAGCTGAGCACCAGCAGCTCGGCTGGGCGACCCCTCCCTTGCCTCCCACAGGGCCGGGCTGTCAGGATTGGTGGGTCCCTCAGAGCTTGGCTGGAGGGGGACATGCAAGACAGAACTGGAAGGGACTGTGACCCCAGGAACTGTGGCCTGGGCCAGGACATGGCAGGCCTCCTCCCACCTGCTCCACACCAGCCCAGAGCCCCCCACCCTCCCCCTTCCAAGAAGAAGACAGATCCAAGTACCGTTGACCCTGTGGGCAGAGCAGAGAGCAGCA... | CAACCGCCCGGCAGGCACTCGGGTTACAGGCTGCAGGCAGAGGGGCCAGCTGAGCACCAGCAGCTCGGCTGGGCGACCCCTCCCTTGCCTCCCACAGGGCCGGGCTGTCAGGATTGGTGGGTCCCTCAGAGCTTGGCTGGAGGGGGACATGCAAGACAGAACTGGAAGGGACTGTGACCCCAGGAACTGTGGCCTGGGCCAGGACATGGCAGGCCTCCTCCCACCTGCTCCACACCAGCCCAGAGCCCCCCACCCTCCCCCTTCCAAGAAGAAGACAGATCCAAGTACCGTTGACCCTGTGGGCAGAGCAGAGAGCAGCA... |
Task1_train_31637 | A mutation on Chromosome X affecting FLNA (filamin A) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Melnick-Needles syndrome | CAACCGCCCGGCAGGCACTCGGGTTACAGGCTGCAGGCAGAGGGGCCAGCTGAGCACCAGCAGCTCGGCTGGGCGACCCCTCCCTTGCCTCCCACAGGGCCGGGCTGTCAGGATTGGTGGGTCCCTCAGAGCTTGGCTGGAGGGGGACATGCAAGACAGAACTGGAAGGGACTGTGACCCCAGGAACTGTGGCCTGGGCCAGGACATGGCAGGCCTCCTCCCACCTGCTCCACACCAGCCCAGAGCCCCCCACCCTCCCCCTTCCAAGAAGAAGACAGATCCAAGTACCGTTGACCCTGTGGGCAGAGCAGAGAGCAGCA... | CAACCGCCCGGCAGGCACTCGGGTTACAGGCTGCAGGCAGAGGGGCCAGCTGAGCACCAGCAGCTCGGCTGGGCGACCCCTCCCTTGCCTCCCACAGGGCCGGGCTGTCAGGATTGGTGGGTCCCTCAGAGCTTGGCTGGAGGGGGACATGCAAGACAGAACTGGAAGGGACTGTGACCCCAGGAACTGTGGCCTGGGCCAGGACATGGCAGGCCTCCTCCCACCTGCTCCACACCAGCCCAGAGCCCCCCACCCTCCCCCTTCCAAGAAGAAGACAGATCCAAGTACCGTTGACCCTGTGGGCAGAGCAGAGAGCAGCA... |
Task1_train_31638 | The following genetic variant occurs in FLNA (filamin A) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Oto-palato-digital syndrome, type II | TGACCCCAGGAACTGTGGCCTGGGCCAGGACATGGCAGGCCTCCTCCCACCTGCTCCACACCAGCCCAGAGCCCCCCACCCTCCCCCTTCCAAGAAGAAGACAGATCCAAGTACCGTTGACCCTGTGGGCAGAGCAGAGAGCAGCAGGTTTCTAGACAGCTGGAGCGAGCTCTTCCGAAGGTGAAAGCGTGAGGAGAGAGATGGAGAGGGGCGAGGAGAGGAGAGGAGGAAGGGCCCCAGCAGGGGAGGAAAAACAGCATGTGCCCAGACAGTAGAAGCTCAAAGAGTAGGGGCCCCGGGGCGGGCTGCAGCGGGACTGG... | TGACCCCAGGAACTGTGGCCTGGGCCAGGACATGGCAGGCCTCCTCCCACCTGCTCCACACCAGCCCAGAGCCCCCCACCCTCCCCCTTCCAAGAAGAAGACAGATCCAAGTACCGTTGACCCTGTGGGCAGAGCAGAGAGCAGCAGGTTTCTAGACAGCTGGAGCGAGCTCTTCCGAAGGTGAAAGCGTGAGGAGAGAGATGGAGAGGGGCGAGGAGAGGAGAGGAGGAAGGGCCCCAGCAGGGGAGGAAAAACAGCATGTGCCCAGACAGTAGAAGCTCAAAGAGTAGGGGCCCCGGGGCGGGCTGCAGCGGGACTGG... |
Task1_train_31639 | A sequence alteration has been identified in FLNA (filamin A) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Oto-palato-digital syndrome, type II | CTCCACACCAGCCCAGAGCCCCCCACCCTCCCCCTTCCAAGAAGAAGACAGATCCAAGTACCGTTGACCCTGTGGGCAGAGCAGAGAGCAGCAGGTTTCTAGACAGCTGGAGCGAGCTCTTCCGAAGGTGAAAGCGTGAGGAGAGAGATGGAGAGGGGCGAGGAGAGGAGAGGAGGAAGGGCCCCAGCAGGGGAGGAAAAACAGCATGTGCCCAGACAGTAGAAGCTCAAAGAGTAGGGGCCCCGGGGCGGGCTGCAGCGGGACTGGCCCAGGGGGTCCCCCTCCTGTGGGAGGCCCAGACTGCAGTGCCACAGCAGAGG... | CTCCACACCAGCCCAGAGCCCCCCACCCTCCCCCTTCCAAGAAGAAGACAGATCCAAGTACCGTTGACCCTGTGGGCAGAGCAGAGAGCAGCAGGTTTCTAGACAGCTGGAGCGAGCTCTTCCGAAGGTGAAAGCGTGAGGAGAGAGATGGAGAGGGGCGAGGAGAGGAGAGGAGGAAGGGCCCCAGCAGGGGAGGAAAAACAGCATGTGCCCAGACAGTAGAAGCTCAAAGAGTAGGGGCCCCGGGGCGGGCTGCAGCGGGACTGGCCCAGGGGGTCCCCCTCCTGTGGGAGGCCCAGACTGCAGTGCCACAGCAGAGG... |
Task1_train_31640 | This variant impacts the gene FLNA (filamin A) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT, WITH MELNICK-NEEDLES SYNDROME | AGCGAGCTCTTCCGAAGGTGAAAGCGTGAGGAGAGAGATGGAGAGGGGCGAGGAGAGGAGAGGAGGAAGGGCCCCAGCAGGGGAGGAAAAACAGCATGTGCCCAGACAGTAGAAGCTCAAAGAGTAGGGGCCCCGGGGCGGGCTGCAGCGGGACTGGCCCAGGGGGTCCCCCTCCTGTGGGAGGCCCAGACTGCAGTGCCACAGCAGAGGGCAGTCAGGGCCGGGCCTACCTTGGCCAACAGTGACAGTGTAGGGGCTGCGAGGGATGGGCACGCCGGCAAACGTGACGTGCACGGTGTGGACGCCCTCCATGGTGGGCT... | AGCGAGCTCTTCCGAAGGTGAAAGCGTGAGGAGAGAGATGGAGAGGGGCGAGGAGAGGAGAGGAGGAAGGGCCCCAGCAGGGGAGGAAAAACAGCATGTGCCCAGACAGTAGAAGCTCAAAGAGTAGGGGCCCCGGGGCGGGCTGCAGCGGGACTGGCCCAGGGGGTCCCCCTCCTGTGGGAGGCCCAGACTGCAGTGCCACAGCAGAGGGCAGTCAGGGCCGGGCCTACCTTGGCCAACAGTGACAGTGTAGGGGCTGCGAGGGATGGGCACGCCGGCAAACGTGACGTGCACGGTGTGGACGCCCTCCATGGTGGGCT... |
Task1_train_31641 | Here is a variant affecting FLNA (filamin A) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Oto-palato-digital syndrome, type I | AGGTGAAAGCGTGAGGAGAGAGATGGAGAGGGGCGAGGAGAGGAGAGGAGGAAGGGCCCCAGCAGGGGAGGAAAAACAGCATGTGCCCAGACAGTAGAAGCTCAAAGAGTAGGGGCCCCGGGGCGGGCTGCAGCGGGACTGGCCCAGGGGGTCCCCCTCCTGTGGGAGGCCCAGACTGCAGTGCCACAGCAGAGGGCAGTCAGGGCCGGGCCTACCTTGGCCAACAGTGACAGTGTAGGGGCTGCGAGGGATGGGCACGCCGGCAAACGTGACGTGCACGGTGTGGACGCCCTCCATGGTGGGCTGGTAGCTGCAGCGGT... | AGGTGAAAGCGTGAGGAGAGAGATGGAGAGGGGCGAGGAGAGGAGAGGAGGAAGGGCCCCAGCAGGGGAGGAAAAACAGCATGTGCCCAGACAGTAGAAGCTCAAAGAGTAGGGGCCCCGGGGCGGGCTGCAGCGGGACTGGCCCAGGGGGTCCCCCTCCTGTGGGAGGCCCAGACTGCAGTGCCACAGCAGAGGGCAGTCAGGGCCGGGCCTACCTTGGCCAACAGTGACAGTGTAGGGGCTGCGAGGGATGGGCACGCCGGCAAACGTGACGTGCACGGTGTGGACGCCCTCCATGGTGGGCTGGTAGCTGCAGCGGT... |
Task1_train_31642 | Consider a variant on Chromosome X in gene FLNA (filamin A). Determine its clinical classification and disease relevance. | Pathogenic; Heterotopia, periventricular, X-linked dominant | CAGTGACAGTGTAGGGGCTGCGAGGGATGGGCACGCCGGCAAACGTGACGTGCACGGTGTGGACGCCCTCCATGGTGGGCTGGTAGCTGCAGCGGTATGTGCTGTCGCCCCGGGCCTCCAGCTGAGGCTCTACCGTGCCCTTCTGTCCCATGGGGTCCTGGATCACAACCTCGACCTCGCCCGTGCCAGCTCCTGCCACGAGGCACCTGCTCAGCTCCCAGGCCCCAGTGCGGCTCTCCCCACAGACCAGCTGGGCCTTGGCAGCCTCCCCTCACCTGCCGTAAAGATCTCAAAGTAGGTGGTCTTGTTGGCGATGTTGC... | CAGTGACAGTGTAGGGGCTGCGAGGGATGGGCACGCCGGCAAACGTGACGTGCACGGTGTGGACGCCCTCCATGGTGGGCTGGTAGCTGCAGCGGTATGTGCTGTCGCCCCGGGCCTCCAGCTGAGGCTCTACCGTGCCCTTCTGTCCCATGGGGTCCTGGATCACAACCTCGACCTCGCCCGTGCCAGCTCCTGCCACGAGGCACCTGCTCAGCTCCCAGGCCCCAGTGCGGCTCTCCCCACAGACCAGCTGGGCCTTGGCAGCCTCCCCTCACCTGCCGTAAAGATCTCAAAGTAGGTGGTCTTGTTGGCGATGTTGC... |
Task1_train_31643 | A mutation in FLNA (filamin A), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Frontometaphyseal dysplasia | CCCCCATCACCATGGCAACCCTGCTGGGCTCTGGGCCCCACCCAAGGCTACTTCTGGGTCTCAGGCTCAAGGCAGGATGGCTCATCTTTAGAAGCCCTGTCAGCCTCCCCCATAATCAGACAAAATACTTCTCTGGTGAGTCAACTAGGGGGCGGGCCTATGAGGAGGGGCTGGGCTGTCCATGGCAGCTGCTTCCCAGCCCAGCAGGCAGCACCTGGAGGGCCAGGTGAGCCGCTCAGAGTGGCCTCCCCAGTTCCCAGGTTGGTCCTGGCCCCACGAGGCTGCCTTTCACTCTCCCCAAATGGCAGCAGGGAGGGGGA... | CCCCCATCACCATGGCAACCCTGCTGGGCTCTGGGCCCCACCCAAGGCTACTTCTGGGTCTCAGGCTCAAGGCAGGATGGCTCATCTTTAGAAGCCCTGTCAGCCTCCCCCATAATCAGACAAAATACTTCTCTGGTGAGTCAACTAGGGGGCGGGCCTATGAGGAGGGGCTGGGCTGTCCATGGCAGCTGCTTCCCAGCCCAGCAGGCAGCACCTGGAGGGCCAGGTGAGCCGCTCAGAGTGGCCTCCCCAGTTCCCAGGTTGGTCCTGGCCCCACGAGGCTGCCTTTCACTCTCCCCAAATGGCAGCAGGGAGGGGGA... |
Task1_train_31644 | This mutation is located in gene FLNA (filamin A) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Oto-palato-digital syndrome, type II | CCCCCATCACCATGGCAACCCTGCTGGGCTCTGGGCCCCACCCAAGGCTACTTCTGGGTCTCAGGCTCAAGGCAGGATGGCTCATCTTTAGAAGCCCTGTCAGCCTCCCCCATAATCAGACAAAATACTTCTCTGGTGAGTCAACTAGGGGGCGGGCCTATGAGGAGGGGCTGGGCTGTCCATGGCAGCTGCTTCCCAGCCCAGCAGGCAGCACCTGGAGGGCCAGGTGAGCCGCTCAGAGTGGCCTCCCCAGTTCCCAGGTTGGTCCTGGCCCCACGAGGCTGCCTTTCACTCTCCCCAAATGGCAGCAGGGAGGGGGA... | CCCCCATCACCATGGCAACCCTGCTGGGCTCTGGGCCCCACCCAAGGCTACTTCTGGGTCTCAGGCTCAAGGCAGGATGGCTCATCTTTAGAAGCCCTGTCAGCCTCCCCCATAATCAGACAAAATACTTCTCTGGTGAGTCAACTAGGGGGCGGGCCTATGAGGAGGGGCTGGGCTGTCCATGGCAGCTGCTTCCCAGCCCAGCAGGCAGCACCTGGAGGGCCAGGTGAGCCGCTCAGAGTGGCCTCCCCAGTTCCCAGGTTGGTCCTGGCCCCACGAGGCTGCCTTTCACTCTCCCCAAATGGCAGCAGGGAGGGGGA... |
Task1_train_31645 | A variant was discovered on Chromosome X, affecting FLNA (filamin A). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Heterotopia, periventricular, X-linked dominant | CCCCCATCACCATGGCAACCCTGCTGGGCTCTGGGCCCCACCCAAGGCTACTTCTGGGTCTCAGGCTCAAGGCAGGATGGCTCATCTTTAGAAGCCCTGTCAGCCTCCCCCATAATCAGACAAAATACTTCTCTGGTGAGTCAACTAGGGGGCGGGCCTATGAGGAGGGGCTGGGCTGTCCATGGCAGCTGCTTCCCAGCCCAGCAGGCAGCACCTGGAGGGCCAGGTGAGCCGCTCAGAGTGGCCTCCCCAGTTCCCAGGTTGGTCCTGGCCCCACGAGGCTGCCTTTCACTCTCCCCAAATGGCAGCAGGGAGGGGGA... | CCCCCATCACCATGGCAACCCTGCTGGGCTCTGGGCCCCACCCAAGGCTACTTCTGGGTCTCAGGCTCAAGGCAGGATGGCTCATCTTTAGAAGCCCTGTCAGCCTCCCCCATAATCAGACAAAATACTTCTCTGGTGAGTCAACTAGGGGGCGGGCCTATGAGGAGGGGCTGGGCTGTCCATGGCAGCTGCTTCCCAGCCCAGCAGGCAGCACCTGGAGGGCCAGGTGAGCCGCTCAGAGTGGCCTCCCCAGTTCCCAGGTTGGTCCTGGCCCCACGAGGCTGCCTTTCACTCTCCCCAAATGGCAGCAGGGAGGGGGA... |
Task1_train_31646 | This alteration occurs within gene FLNA (filamin A) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; Melnick-Needles syndrome | CCCCCATCACCATGGCAACCCTGCTGGGCTCTGGGCCCCACCCAAGGCTACTTCTGGGTCTCAGGCTCAAGGCAGGATGGCTCATCTTTAGAAGCCCTGTCAGCCTCCCCCATAATCAGACAAAATACTTCTCTGGTGAGTCAACTAGGGGGCGGGCCTATGAGGAGGGGCTGGGCTGTCCATGGCAGCTGCTTCCCAGCCCAGCAGGCAGCACCTGGAGGGCCAGGTGAGCCGCTCAGAGTGGCCTCCCCAGTTCCCAGGTTGGTCCTGGCCCCACGAGGCTGCCTTTCACTCTCCCCAAATGGCAGCAGGGAGGGGGA... | CCCCCATCACCATGGCAACCCTGCTGGGCTCTGGGCCCCACCCAAGGCTACTTCTGGGTCTCAGGCTCAAGGCAGGATGGCTCATCTTTAGAAGCCCTGTCAGCCTCCCCCATAATCAGACAAAATACTTCTCTGGTGAGTCAACTAGGGGGCGGGCCTATGAGGAGGGGCTGGGCTGTCCATGGCAGCTGCTTCCCAGCCCAGCAGGCAGCACCTGGAGGGCCAGGTGAGCCGCTCAGAGTGGCCTCCCCAGTTCCCAGGTTGGTCCTGGCCCCACGAGGCTGCCTTTCACTCTCCCCAAATGGCAGCAGGGAGGGGGA... |
Task1_train_31647 | A sequence alteration has been identified in FLNA (filamin A) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Heterotopia, periventricular, X-linked dominant | TCTCTGGTGAGTCAACTAGGGGGCGGGCCTATGAGGAGGGGCTGGGCTGTCCATGGCAGCTGCTTCCCAGCCCAGCAGGCAGCACCTGGAGGGCCAGGTGAGCCGCTCAGAGTGGCCTCCCCAGTTCCCAGGTTGGTCCTGGCCCCACGAGGCTGCCTTTCACTCTCCCCAAATGGCAGCAGGGAGGGGGACTCGGAGAGGACCAAGGGTGCAGGGCCAGGGAACAAGGCCAGCCAGGGCTTCCCATCAGGCCCCCACCCCAGTCCAGCCTCAGACCCCTCAACGACCCCCACACGGGGAGCAACCAGGCCCACCAGGTC... | TCTCTGGTGAGTCAACTAGGGGGCGGGCCTATGAGGAGGGGCTGGGCTGTCCATGGCAGCTGCTTCCCAGCCCAGCAGGCAGCACCTGGAGGGCCAGGTGAGCCGCTCAGAGTGGCCTCCCCAGTTCCCAGGTTGGTCCTGGCCCCACGAGGCTGCCTTTCACTCTCCCCAAATGGCAGCAGGGAGGGGGACTCGGAGAGGACCAAGGGTGCAGGGCCAGGGAACAAGGCCAGCCAGGGCTTCCCATCAGGCCCCCACCCCAGTCCAGCCTCAGACCCCTCAACGACCCCCACACGGGGAGCAACCAGGCCCACCAGGTC... |
Task1_train_31648 | A genomic change on Chromosome X affects FLNA (filamin A). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Heterotopia, periventricular, X-linked dominant | GGAGGGGCTGGGCTGTCCATGGCAGCTGCTTCCCAGCCCAGCAGGCAGCACCTGGAGGGCCAGGTGAGCCGCTCAGAGTGGCCTCCCCAGTTCCCAGGTTGGTCCTGGCCCCACGAGGCTGCCTTTCACTCTCCCCAAATGGCAGCAGGGAGGGGGACTCGGAGAGGACCAAGGGTGCAGGGCCAGGGAACAAGGCCAGCCAGGGCTTCCCATCAGGCCCCCACCCCAGTCCAGCCTCAGACCCCTCAACGACCCCCACACGGGGAGCAACCAGGCCCACCAGGTCCATGTTAGGCCAGCCTACTCCGTCCCCATCCCCC... | GGAGGGGCTGGGCTGTCCATGGCAGCTGCTTCCCAGCCCAGCAGGCAGCACCTGGAGGGCCAGGTGAGCCGCTCAGAGTGGCCTCCCCAGTTCCCAGGTTGGTCCTGGCCCCACGAGGCTGCCTTTCACTCTCCCCAAATGGCAGCAGGGAGGGGGACTCGGAGAGGACCAAGGGTGCAGGGCCAGGGAACAAGGCCAGCCAGGGCTTCCCATCAGGCCCCCACCCCAGTCCAGCCTCAGACCCCTCAACGACCCCCACACGGGGAGCAACCAGGCCCACCAGGTCCATGTTAGGCCAGCCTACTCCGTCCCCATCCCCC... |
Task1_train_31649 | Consider this mutation in EMD (emerin) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; X-linked Emery-Dreifuss muscular dystrophy | CAGCCCTCAACTGTGAAACTACAGATGGCATGTCACCTCTTCATGCTCCCAGTTTGGGGCCTACCCAGTGAGGGGCACACTAGTTGATTCCATACACCCTCAGCTGGCTTTGTTTAGAATGTGAATGTCACAGCCAGGCGCGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGCCGGACTGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAATCCTGTTTCTACTAAAAATACAAATACTAAATACTAAAAATACAAAGCCAGGCATGGTGGCATGTGACTGTACTCCCAGCTA... | CAGCCCTCAACTGTGAAACTACAGATGGCATGTCACCTCTTCATGCTCCCAGTTTGGGGCCTACCCAGTGAGGGGCACACTAGTTGATTCCATACACCCTCAGCTGGCTTTGTTTAGAATGTGAATGTCACAGCCAGGCGCGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGCCGGACTGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAATCCTGTTTCTACTAAAAATACAAATACTAAATACTAAAAATACAAAGCCAGGCATGGTGGCATGTGACTGTACTCCCAGCTA... |
Task1_train_31650 | A mutation found in EMD (emerin) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; X-linked Emery-Dreifuss muscular dystrophy | AGCCCTCAACTGTGAAACTACAGATGGCATGTCACCTCTTCATGCTCCCAGTTTGGGGCCTACCCAGTGAGGGGCACACTAGTTGATTCCATACACCCTCAGCTGGCTTTGTTTAGAATGTGAATGTCACAGCCAGGCGCGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGCCGGACTGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAATCCTGTTTCTACTAAAAATACAAATACTAAATACTAAAAATACAAAGCCAGGCATGGTGGCATGTGACTGTACTCCCAGCTAC... | AGCCCTCAACTGTGAAACTACAGATGGCATGTCACCTCTTCATGCTCCCAGTTTGGGGCCTACCCAGTGAGGGGCACACTAGTTGATTCCATACACCCTCAGCTGGCTTTGTTTAGAATGTGAATGTCACAGCCAGGCGCGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGCCGGACTGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAATCCTGTTTCTACTAAAAATACAAATACTAAATACTAAAAATACAAAGCCAGGCATGGTGGCATGTGACTGTACTCCCAGCTAC... |
Task1_train_31651 | Here’s a variant in EMD (emerin) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; X-linked Emery-Dreifuss muscular dystrophy | GCCCTCAACTGTGAAACTACAGATGGCATGTCACCTCTTCATGCTCCCAGTTTGGGGCCTACCCAGTGAGGGGCACACTAGTTGATTCCATACACCCTCAGCTGGCTTTGTTTAGAATGTGAATGTCACAGCCAGGCGCGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGCCGGACTGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAATCCTGTTTCTACTAAAAATACAAATACTAAATACTAAAAATACAAAGCCAGGCATGGTGGCATGTGACTGTACTCCCAGCTACT... | GCCCTCAACTGTGAAACTACAGATGGCATGTCACCTCTTCATGCTCCCAGTTTGGGGCCTACCCAGTGAGGGGCACACTAGTTGATTCCATACACCCTCAGCTGGCTTTGTTTAGAATGTGAATGTCACAGCCAGGCGCGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGCCGGACTGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAATCCTGTTTCTACTAAAAATACAAATACTAAATACTAAAAATACAAAGCCAGGCATGGTGGCATGTGACTGTACTCCCAGCTACT... |
Task1_train_31652 | Consider this mutation in EMD (emerin) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; X-linked Emery-Dreifuss muscular dystrophy | GCTCCGCGCCCGCGCGGGCCCCTCCCCCTCCATCGCTAGCCAATCCCCGTTTTGTGACGTATGGGCTCGCGGCCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGT... | GCTCCGCGCCCGCGCGGGCCCCTCCCCCTCCATCGCTAGCCAATCCCCGTTTTGTGACGTATGGGCTCGCGGCCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGT... |
Task1_train_31653 | A sequence alteration has been identified in EMD (emerin) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; X-linked Emery-Dreifuss muscular dystrophy | CTCCGCGCCCGCGCGGGCCCCTCCCCCTCCATCGCTAGCCAATCCCCGTTTTGTGACGTATGGGCTCGCGGCCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTG... | CTCCGCGCCCGCGCGGGCCCCTCCCCCTCCATCGCTAGCCAATCCCCGTTTTGTGACGTATGGGCTCGCGGCCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTG... |
Task1_train_31654 | Consider this mutation in RPL10 (ribosomal protein L10) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; Intellectual disability, X-linked, syndromic, 35 | CGTGGAGATTTCTCCTCGACCTCTTCCCCGCGGCAATGTGCGAACCCTGGGTCTCCAGGAAACGGGGATACGGGGCATGGCTCCCAGCAAGGCCTGGTCCAGCCTCTCCGGTAGGGGAATGGGTCTCCCCCTCCGGCCTCCCGGGTTGACAAAGGAACGCGGGCCCAGATCCCCGTATGGCGCTTCACCGCCGGGGCCTCTAGCCTAGAAGGAGGCACGGAGCGCGTGTCCGAGACCCGTGCAAGCTCAGGGACACTCTCGCGGTCGCCGGGAGGCCCACCTAGGGTACTTTCCTTTTTTCCACTCTCAGAAATATACGT... | CGTGGAGATTTCTCCTCGACCTCTTCCCCGCGGCAATGTGCGAACCCTGGGTCTCCAGGAAACGGGGATACGGGGCATGGCTCCCAGCAAGGCCTGGTCCAGCCTCTCCGGTAGGGGAATGGGTCTCCCCCTCCGGCCTCCCGGGTTGACAAAGGAACGCGGGCCCAGATCCCCGTATGGCGCTTCACCGCCGGGGCCTCTAGCCTAGAAGGAGGCACGGAGCGCGTGTCCGAGACCCGTGCAAGCTCAGGGACACTCTCGCGGTCGCCGGGAGGCCCACCTAGGGTACTTTCCTTTTTTCCACTCTCAGAAATATACGT... |
Task1_train_31655 | This sequence change occurs on Chromosome X, altering RPL10 (ribosomal protein L10). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | GAACCCTGGGTCTCCAGGAAACGGGGATACGGGGCATGGCTCCCAGCAAGGCCTGGTCCAGCCTCTCCGGTAGGGGAATGGGTCTCCCCCTCCGGCCTCCCGGGTTGACAAAGGAACGCGGGCCCAGATCCCCGTATGGCGCTTCACCGCCGGGGCCTCTAGCCTAGAAGGAGGCACGGAGCGCGTGTCCGAGACCCGTGCAAGCTCAGGGACACTCTCGCGGTCGCCGGGAGGCCCACCTAGGGTACTTTCCTTTTTTCCACTCTCAGAAATATACGTCTGTCACAGTTAACGGCAAAGCCTAGGGCAAGAGTTCTACG... | GAACCCTGGGTCTCCAGGAAACGGGGATACGGGGCATGGCTCCCAGCAAGGCCTGGTCCAGCCTCTCCGGTAGGGGAATGGGTCTCCCCCTCCGGCCTCCCGGGTTGACAAAGGAACGCGGGCCCAGATCCCCGTATGGCGCTTCACCGCCGGGGCCTCTAGCCTAGAAGGAGGCACGGAGCGCGTGTCCGAGACCCGTGCAAGCTCAGGGACACTCTCGCGGTCGCCGGGAGGCCCACCTAGGGTACTTTCCTTTTTTCCACTCTCAGAAATATACGTCTGTCACAGTTAACGGCAAAGCCTAGGGCAAGAGTTCTACG... |
Task1_train_31656 | A sequence alteration has been identified in RPL10 (ribosomal protein L10) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Intellectual disability, X-linked, syndromic, 35 | CACTGCTGGGAAACGGGCGGGGAAAGAAGTGCCTATGGCCGCTGAAAACAATTGTGGGGTGGAGCCTCCCCCGTGCGGCGGCCCTGTCTTGGGAACTGACCCTATGTTTTACACCTCCCGGCTATTTTTTAGTCTGCAATATTACTGTCTGTTCCTTCGTTCCCGTGTCGGTGTGGAAGCGACGGTTCCCTCGTATCTCTGCCTGTGTCCTGCAAGCTCACCGCATTTTCGGGCGCTAGATACGCTCTTGGGGCCTTTGTGTGCGTTCTCTGTCTTATTTCCGGGCGACGTGCCGCGTGCGTTGTCGGACGTGAAGGGCA... | CACTGCTGGGAAACGGGCGGGGAAAGAAGTGCCTATGGCCGCTGAAAACAATTGTGGGGTGGAGCCTCCCCCGTGCGGCGGCCCTGTCTTGGGAACTGACCCTATGTTTTACACCTCCCGGCTATTTTTTAGTCTGCAATATTACTGTCTGTTCCTTCGTTCCCGTGTCGGTGTGGAAGCGACGGTTCCCTCGTATCTCTGCCTGTGTCCTGCAAGCTCACCGCATTTTCGGGCGCTAGATACGCTCTTGGGGCCTTTGTGTGCGTTCTCTGTCTTATTTCCGGGCGACGTGCCGCGTGCGTTGTCGGACGTGAAGGGCA... |
Task1_train_31657 | Given this variant in gene TAFAZZIN (tafazzin, phospholipid-lysophospholipid transacylase) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | AGGCTGAGGCAGGAGAATTGCTTGAGCCTGGAAGGCGGAGCTTGCAGTGAGCCGAGATCACACCACTGCACTCGCACTCCAGCCCGGGCGACAGTGCGAGACTCCATCTCAAAAAAAAAAATCAATAAATTATGGTTTAAAAATAAAAAACAGGCCAGGTAGGATGACTCACACTTTGGGAGGAGAGGCAGACAGATCACCTGAGGCCGGGAGTTCGAGACCAGCTTGACCAACATGAAGAAACCCAGCCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCTTGCGCCTGTAATCCCAGCTACTCAGGAGGCTG... | AGGCTGAGGCAGGAGAATTGCTTGAGCCTGGAAGGCGGAGCTTGCAGTGAGCCGAGATCACACCACTGCACTCGCACTCCAGCCCGGGCGACAGTGCGAGACTCCATCTCAAAAAAAAAAATCAATAAATTATGGTTTAAAAATAAAAAACAGGCCAGGTAGGATGACTCACACTTTGGGAGGAGAGGCAGACAGATCACCTGAGGCCGGGAGTTCGAGACCAGCTTGACCAACATGAAGAAACCCAGCCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCTTGCGCCTGTAATCCCAGCTACTCAGGAGGCTG... |
Task1_train_31658 | With a mutation on Chromosome X in gene TAFAZZIN (tafazzin, phospholipid-lysophospholipid transacylase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; 3-Methylglutaconic aciduria type 2 | TTGGGAGGCCGAGGCGGGTGGATCAGAGTGTGATGGCGGGCGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAGTCTGGGAGATCGAGGCTGCAGTGAGCCATGATCCCATCACTGCACTCCAGCCTGGGTCTGGCTGGACCCTGTGTCAAACAAAAAACAGAAACACTAGAGAGACAAAAGGCGAGCGCAGGAGGCTGCCAGGAAGCGGGAGCCCCACGGGGTGACGGCCACTTCCCGCCGCCCCGGGGCTGGCCTCGCTGCCGTCAAGCGGCCCGTGCGCGCTTTGCGACAGTCGGTCGGGC... | TTGGGAGGCCGAGGCGGGTGGATCAGAGTGTGATGGCGGGCGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAGTCTGGGAGATCGAGGCTGCAGTGAGCCATGATCCCATCACTGCACTCCAGCCTGGGTCTGGCTGGACCCTGTGTCAAACAAAAAACAGAAACACTAGAGAGACAAAAGGCGAGCGCAGGAGGCTGCCAGGAAGCGGGAGCCCCACGGGGTGACGGCCACTTCCCGCCGCCCCGGGGCTGGCCTCGCTGCCGTCAAGCGGCCCGTGCGCGCTTTGCGACAGTCGGTCGGGC... |
Task1_train_31659 | Here is a genetic alteration in TAFAZZIN (tafazzin, phospholipid-lysophospholipid transacylase) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; 3-Methylglutaconic aciduria type 2 | CCCGGGGCTGGCCTCGCTGCCGTCAAGCGGCCCGTGCGCGCTTTGCGACAGTCGGTCGGGCTGGGCACCGGCGCAGGTTCGCTTTCCGGCGGTTGCACCGGGCCGGGGTGCCAGCGCCCGCCTTCCCGTTTCCTCCCGTTCCGCAGCGCGCCCACGGCCTGTGACCCCGGCGACCGCTCCCCAGTGACGAGAGAGCGGGGCCGGGCGCTGCTCCGGCCTGACCTGCGAAGGGACCTCGGTCCAGTCCCCTGTTGCGCCGCGCCCCCGTCCGTCCGTGCGCGGGCCAGTCAGGGGCCAGTGTCTCGAGCGGTCGAGGTCGC... | CCCGGGGCTGGCCTCGCTGCCGTCAAGCGGCCCGTGCGCGCTTTGCGACAGTCGGTCGGGCTGGGCACCGGCGCAGGTTCGCTTTCCGGCGGTTGCACCGGGCCGGGGTGCCAGCGCCCGCCTTCCCGTTTCCTCCCGTTCCGCAGCGCGCCCACGGCCTGTGACCCCGGCGACCGCTCCCCAGTGACGAGAGAGCGGGGCCGGGCGCTGCTCCGGCCTGACCTGCGAAGGGACCTCGGTCCAGTCCCCTGTTGCGCCGCGCCCCCGTCCGTCCGTGCGCGGGCCAGTCAGGGGCCAGTGTCTCGAGCGGTCGAGGTCGC... |
Task1_train_31660 | Here is a genetic alteration in TAFAZZIN (tafazzin, phospholipid-lysophospholipid transacylase) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | TATTTCTAGCTGGTCAAAGTAGAATGTGGTAAAACCCAATAAAGTAACAGCAAATAACAAAGAGGGGCTTTTAATGGAAAGCTGCAGTGCCTGCCCCTCACCTCCCTAGCCCCACTCCTCAGAAGCAGCCCCCTGGAGCGGTTTCTCTTTCTGCTGCTTTTGGAGGCTACTTCTGTCTCTGTAAAGGAACTTCTGTCTCTGTAAAGGAACAAGCAGAGGCCACAGTGTCTTGGCAAATGACCGTGGCATTGTTTATCCCAACCTGCTCTGAGAGATGGGGACTCTGCTGATTCACCCCTCGTCCCTGCCTCTTTAGTTCC... | TATTTCTAGCTGGTCAAAGTAGAATGTGGTAAAACCCAATAAAGTAACAGCAAATAACAAAGAGGGGCTTTTAATGGAAAGCTGCAGTGCCTGCCCCTCACCTCCCTAGCCCCACTCCTCAGAAGCAGCCCCCTGGAGCGGTTTCTCTTTCTGCTGCTTTTGGAGGCTACTTCTGTCTCTGTAAAGGAACTTCTGTCTCTGTAAAGGAACAAGCAGAGGCCACAGTGTCTTGGCAAATGACCGTGGCATTGTTTATCCCAACCTGCTCTGAGAGATGGGGACTCTGCTGATTCACCCCTCGTCCCTGCCTCTTTAGTTCC... |
Task1_train_31661 | Given a variant located on Chromosome X and affecting TAFAZZIN (tafazzin, phospholipid-lysophospholipid transacylase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; 3-Methylglutaconic aciduria type 2 | TATTTAAGTATCAAAGTGATTTGACACAAGTGACACAAGTGAGCAGTAGTAGCATTTGCAAAAGCTACAAATGATGAAGTCTTGCTCCAAAAGCATATTATTATTATTTTTTAAATTCCAGTTTCAAGCTCAATGGATAGGTTGCGTCAGTGGGTTTTAGTAGAGAAGGGGCCAGTACCTATGAAGACTCCCCTGTACTATTACACATGCTGCGTCCCAAGTAGGGAAACTCCAGTGGGTCATCACCCCCTCCCTCTAGCCCAAGTGGGCTGCTGGGTCAGGGCACTGTTTGGGTTGGGTTGAGATTCCTGGATCCCTAA... | TATTTAAGTATCAAAGTGATTTGACACAAGTGACACAAGTGAGCAGTAGTAGCATTTGCAAAAGCTACAAATGATGAAGTCTTGCTCCAAAAGCATATTATTATTATTTTTTAAATTCCAGTTTCAAGCTCAATGGATAGGTTGCGTCAGTGGGTTTTAGTAGAGAAGGGGCCAGTACCTATGAAGACTCCCCTGTACTATTACACATGCTGCGTCCCAAGTAGGGAAACTCCAGTGGGTCATCACCCCCTCCCTCTAGCCCAAGTGGGCTGCTGGGTCAGGGCACTGTTTGGGTTGGGTTGAGATTCCTGGATCCCTAA... |
Task1_train_31662 | This sequence variant lies in TAFAZZIN (tafazzin, phospholipid-lysophospholipid transacylase) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; TAFAZZIN-related disorder | TATTTAAGTATCAAAGTGATTTGACACAAGTGACACAAGTGAGCAGTAGTAGCATTTGCAAAAGCTACAAATGATGAAGTCTTGCTCCAAAAGCATATTATTATTATTTTTTAAATTCCAGTTTCAAGCTCAATGGATAGGTTGCGTCAGTGGGTTTTAGTAGAGAAGGGGCCAGTACCTATGAAGACTCCCCTGTACTATTACACATGCTGCGTCCCAAGTAGGGAAACTCCAGTGGGTCATCACCCCCTCCCTCTAGCCCAAGTGGGCTGCTGGGTCAGGGCACTGTTTGGGTTGGGTTGAGATTCCTGGATCCCTAA... | TATTTAAGTATCAAAGTGATTTGACACAAGTGACACAAGTGAGCAGTAGTAGCATTTGCAAAAGCTACAAATGATGAAGTCTTGCTCCAAAAGCATATTATTATTATTTTTTAAATTCCAGTTTCAAGCTCAATGGATAGGTTGCGTCAGTGGGTTTTAGTAGAGAAGGGGCCAGTACCTATGAAGACTCCCCTGTACTATTACACATGCTGCGTCCCAAGTAGGGAAACTCCAGTGGGTCATCACCCCCTCCCTCTAGCCCAAGTGGGCTGCTGGGTCAGGGCACTGTTTGGGTTGGGTTGAGATTCCTGGATCCCTAA... |
Task1_train_31663 | This variant impacts the gene TAFAZZIN (tafazzin, phospholipid-lysophospholipid transacylase) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Primary dilated cardiomyopathy | AGTGCCATGGTCTCAGGGTTATCTCCAATGTGGAAAGTTGCTAGACCAGGAGCAGTTTGACTCCACTGTTTTTCAGTCTAGCAAGTTTGAGTTTTTCCCAAGCTCTTGATGTGTGTTCAAATGAATGTTCTCCCTTTCCCAAGAGACCTCCCTATAAGGGAGGGTCTAGTTTCCCGGGGTGCCCTGAGAAGAAGGGGTCAGCAGGGGGGAGGAATGGTGGAGGCTGAGGCCTCAGGCAGGTGCCCTGTGAGGAGTGGCTGTGACAAGCGGCTGAGATCCCAGCAAAGGGTTGTTGCCCAGAATCTGGGGCCTAAGCGAGG... | AGTGCCATGGTCTCAGGGTTATCTCCAATGTGGAAAGTTGCTAGACCAGGAGCAGTTTGACTCCACTGTTTTTCAGTCTAGCAAGTTTGAGTTTTTCCCAAGCTCTTGATGTGTGTTCAAATGAATGTTCTCCCTTTCCCAAGAGACCTCCCTATAAGGGAGGGTCTAGTTTCCCGGGGTGCCCTGAGAAGAAGGGGTCAGCAGGGGGGAGGAATGGTGGAGGCTGAGGCCTCAGGCAGGTGCCCTGTGAGGAGTGGCTGTGACAAGCGGCTGAGATCCCAGCAAAGGGTTGTTGCCCAGAATCTGGGGCCTAAGCGAGG... |
Task1_train_31664 | A variant was discovered in gene ATP6AP1 (ATPase H+ transporting accessory protein 1), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Immunodeficiency 47 | ATATTCATGACCCTGTATCATGACCTGCTGTCCTGCATGTCCTCTAGACCAAACTGTCAACTTCCGGGGCAGAGTCCAGGTGCCTGGCCCATAGCAGGTGCTTCAGGAAGCCTCCAGGGCCATCACTCCAGGGACCCCTAGCAATGCAGGGAAGAATAAAAGCAGCCACAGGTGGGTTTCTTCCCTAAGCATGGAAGCAGCTCAGCAACAGAGTCCTGGCGGAGGCAAGATTGCCTTCCGCATTCCAGAGGAAGTATTTGCCTTGAAACTATGTAACAAAAGTAACAGAAACATAATAGACATGCTTTCCTTTTTAAGTT... | ATATTCATGACCCTGTATCATGACCTGCTGTCCTGCATGTCCTCTAGACCAAACTGTCAACTTCCGGGGCAGAGTCCAGGTGCCTGGCCCATAGCAGGTGCTTCAGGAAGCCTCCAGGGCCATCACTCCAGGGACCCCTAGCAATGCAGGGAAGAATAAAAGCAGCCACAGGTGGGTTTCTTCCCTAAGCATGGAAGCAGCTCAGCAACAGAGTCCTGGCGGAGGCAAGATTGCCTTCCGCATTCCAGAGGAAGTATTTGCCTTGAAACTATGTAACAAAAGTAACAGAAACATAATAGACATGCTTTCCTTTTTAAGTT... |
Task1_train_31665 | A change on Chromosome X affects gene ATP6AP1 (ATPase H+ transporting accessory protein 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Immunodeficiency 47 | ATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACCTCAGCCTCCCAAACTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTGAGGGGGAATTCTTATAATCCACATAAAACATCTAGCCAGGATCCCCCAGTCTTAGGGCATTCACCCATTCATTCATTTGCCCAATATGGAAAGCCTACTATGTGCCAGGTATTGTGAAGTGTTGGGGATATGGCAGTGAGCAGAAGAACCCAAGCCCCCACCCTCAGGAAGCTGACATTCTT... | ATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACCTCAGCCTCCCAAACTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTGAGGGGGAATTCTTATAATCCACATAAAACATCTAGCCAGGATCCCCCAGTCTTAGGGCATTCACCCATTCATTCATTTGCCCAATATGGAAAGCCTACTATGTGCCAGGTATTGTGAAGTGTTGGGGATATGGCAGTGAGCAGAAGAACCCAAGCCCCCACCCTCAGGAAGCTGACATTCTT... |
Task1_train_31666 | A variant on Chromosome X in gene ATP6AP1 (ATPase H+ transporting accessory protein 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Immunodeficiency 47 | TGAGAGTGCTGGAGGGAAGAGGTGAGTCTCCCACCCCACCCCCACCAACACACAGTTGTGCTCCACCATACTGAACCTGACTCTCAGTGAGACTTTGCTGGCCCTGAGAATGCACGGGGAAGGTGGCTGTCCCCTGCCTTGGCCCCCATCACTTGCCAAACCTCCTCAGATGTCTCCCCTATTTCCCTAATAGCTGAGCATTGAGGATTTCACAGCATATGGCGGTGTGTTTGGAAACAAGCAGGACAGCGCCTTTTCTAACCTAGAGGTGAGAGTCCTCTCCCAGCCAGGGGCCATGGGGGACATTCTGTGCTCCTTCT... | TGAGAGTGCTGGAGGGAAGAGGTGAGTCTCCCACCCCACCCCCACCAACACACAGTTGTGCTCCACCATACTGAACCTGACTCTCAGTGAGACTTTGCTGGCCCTGAGAATGCACGGGGAAGGTGGCTGTCCCCTGCCTTGGCCCCCATCACTTGCCAAACCTCCTCAGATGTCTCCCCTATTTCCCTAATAGCTGAGCATTGAGGATTTCACAGCATATGGCGGTGTGTTTGGAAACAAGCAGGACAGCGCCTTTTCTAACCTAGAGGTGAGAGTCCTCTCCCAGCCAGGGGCCATGGGGGACATTCTGTGCTCCTTCT... |
Task1_train_31667 | A genetic alteration is present in ATP6AP1 (ATPase H+ transporting accessory protein 1) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | AGCAGGGAAATGCTGGCTCCCAGGACCAGCCAGGGACCACCTGACAGAAGACCCTGTCCAGCCAGACCCCACTTGGCAGAGGGGGGCGGCTCTCTGTGCTGGAGGCTGTGGAGCCAGTTTCTGTGCAGGCAGCGTGAATCCTAGAGTTATGGGTTTAATAAGACTGCAGACATTTGGAAAAACAATTCTGGGGACTCATCTATTTGCAATAAAGGACAGTCACTCCCCATGGAAAGGCAGTCGTGAACCTTTCATGGGTGGATGTGGAGTTTTCTGTATTGATATGTATTTTCTTATGTCACATAGGTAGGGCTTGGCAT... | AGCAGGGAAATGCTGGCTCCCAGGACCAGCCAGGGACCACCTGACAGAAGACCCTGTCCAGCCAGACCCCACTTGGCAGAGGGGGGCGGCTCTCTGTGCTGGAGGCTGTGGAGCCAGTTTCTGTGCAGGCAGCGTGAATCCTAGAGTTATGGGTTTAATAAGACTGCAGACATTTGGAAAAACAATTCTGGGGACTCATCTATTTGCAATAAAGGACAGTCACTCCCCATGGAAAGGCAGTCGTGAACCTTTCATGGGTGGATGTGGAGTTTTCTGTATTGATATGTATTTTCTTATGTCACATAGGTAGGGCTTGGCAT... |
Task1_train_31668 | A variant has been detected on Chromosome X in ATP6AP1 (ATPase H+ transporting accessory protein 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Immunodeficiency 47 | TTCCAGGGTATGTGCCCTTCCAGCAGGGGCTCTGGGGCGTGCAGGGAGAGGCAGTGTGGTGAGTCTGCTTGGAGGTGGGGAGTGTATGCCACAGGTAGGCTGCCCAGGAGGCCCAGCATAGGGGAAGCATGAGGCACAGAACCCCTGTGGTGTGACTATTTGGAGTGGCTGACTCTGGGGGCAGGGCTAGGATGAGCACTCAAGTCCTGCCTCCCCATTCCAGGGGCAGCTTTCCATCTCGTCCTGTGAGGCTTGTGGGTGGCAGACTTGGACACTAAGTCTAAATGACCCTAAGTTTGAGGGACTAGGAATGTCATCAG... | TTCCAGGGTATGTGCCCTTCCAGCAGGGGCTCTGGGGCGTGCAGGGAGAGGCAGTGTGGTGAGTCTGCTTGGAGGTGGGGAGTGTATGCCACAGGTAGGCTGCCCAGGAGGCCCAGCATAGGGGAAGCATGAGGCACAGAACCCCTGTGGTGTGACTATTTGGAGTGGCTGACTCTGGGGGCAGGGCTAGGATGAGCACTCAAGTCCTGCCTCCCCATTCCAGGGGCAGCTTTCCATCTCGTCCTGTGAGGCTTGTGGGTGGCAGACTTGGACACTAAGTCTAAATGACCCTAAGTTTGAGGGACTAGGAATGTCATCAG... |
Task1_train_31669 | Given this context: Chromosome X, gene GDI1 (GDP dissociation inhibitor 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Intellectual disability, X-linked 41 | CTAGGGCCAGGAGTGGAGATGGCCGCCTTGAGCATTTTCTTGGTAGTATTTCCTCCTTTCCAATTCGTGCTCTTCATTTACTTCACTCCATCCTTGGGTGATGAGGGCACAACCCCAGTGCACTGAAGTACAGAAGTCTCCACACTTGAAAAAACGAGTCTCCACAAATGTGACTTGCTCAGTTCCCGGCAGCACCAGGACTGGGCCCAGGGTCCCAGAACCTTGAGTCAGGGCTTAGCTGGGAGCTGACCTATCTCCAGAGAGTCCATTCTGGTCCCTCAGGCTGTCTTGGTGCGGAGCACTGATCCCTCATGCCCCCT... | CTAGGGCCAGGAGTGGAGATGGCCGCCTTGAGCATTTTCTTGGTAGTATTTCCTCCTTTCCAATTCGTGCTCTTCATTTACTTCACTCCATCCTTGGGTGATGAGGGCACAACCCCAGTGCACTGAAGTACAGAAGTCTCCACACTTGAAAAAACGAGTCTCCACAAATGTGACTTGCTCAGTTCCCGGCAGCACCAGGACTGGGCCCAGGGTCCCAGAACCTTGAGTCAGGGCTTAGCTGGGAGCTGACCTATCTCCAGAGAGTCCATTCTGGTCCCTCAGGCTGTCTTGGTGCGGAGCACTGATCCCTCATGCCCCCT... |
Task1_train_31670 | Here’s a variant in LAGE3 (L antigen family member 3) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Galloway-Mowat syndrome 2, X-linked | CAGCACTTTTGGAGGCCCAGGCGGGAAGATCACTGGAGCCCAGGAGTTCAGGACCAGCCTGGGCAACAAAGCGAGATCCCCTCTCTACAAAAAATAAAAAACTAGCCAGGCATGGTGGTGCATGCCTGTGGTCCCAGTTACTCAGGAGGCTGAGGTGCTGGGGAACAAGGCTGCAGTGAGCTGTGATTGTGCCAGCCTAGGTGACAGAGCCAGACCCTGTATCAAAAAAAATAATAATAATTAAAAAACAAAAGATCGGCTGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGACCA... | CAGCACTTTTGGAGGCCCAGGCGGGAAGATCACTGGAGCCCAGGAGTTCAGGACCAGCCTGGGCAACAAAGCGAGATCCCCTCTCTACAAAAAATAAAAAACTAGCCAGGCATGGTGGTGCATGCCTGTGGTCCCAGTTACTCAGGAGGCTGAGGTGCTGGGGAACAAGGCTGCAGTGAGCTGTGATTGTGCCAGCCTAGGTGACAGAGCCAGACCCTGTATCAAAAAAAATAATAATAATTAAAAAACAAAAGATCGGCTGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGACCA... |
Task1_train_31671 | The following genetic variant occurs in LAGE3 (L antigen family member 3) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Galloway-Mowat syndrome 2, X-linked | CACCTGAGGTCGGGAGTTCGAGACCAGCCTCACCAACATGGAGAAACCCTGTGTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATTCTAGCTACTTGGGAGGCTGAGGCAGGAGAATTCACTTGAACCCGGGAAGTGGAGGTTGCGGTGAGCCAAGATCGCACCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACACTGTCTCAAAAAAAAAAAAAAAAAGTGAAAGATCTAAATTGTCAACTATTCGTCAATAATTAATGTCTAAAAAATATTAAGAAAGGAAGAAAGGAATGAGAGCAA... | CACCTGAGGTCGGGAGTTCGAGACCAGCCTCACCAACATGGAGAAACCCTGTGTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATTCTAGCTACTTGGGAGGCTGAGGCAGGAGAATTCACTTGAACCCGGGAAGTGGAGGTTGCGGTGAGCCAAGATCGCACCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACACTGTCTCAAAAAAAAAAAAAAAAAGTGAAAGATCTAAATTGTCAACTATTCGTCAATAATTAATGTCTAAAAAATATTAAGAAAGGAAGAAAGGAATGAGAGCAA... |
Task1_train_31672 | Here is a mutation in G6PD (glucose-6-phosphate dehydrogenase) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | GCCCTGGAACCTACCCTGCTTAGCCTTACCACACCCCATCAGCCCCCAGCCCAACCCGACTCTCAGCCTTGCCACAGCCCCTTCTGGAGGCCACAGGAACCAGGACAAGAGGACTAAAACCACTGCCCCTGTGGCCGAAGCCTGGCCCCCAATCCTGTGCACACAGAGCCCACTGAGCCTGTGACCTGTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGAT... | GCCCTGGAACCTACCCTGCTTAGCCTTACCACACCCCATCAGCCCCCAGCCCAACCCGACTCTCAGCCTTGCCACAGCCCCTTCTGGAGGCCACAGGAACCAGGACAAGAGGACTAAAACCACTGCCCCTGTGGCCGAAGCCTGGCCCCCAATCCTGTGCACACAGAGCCCACTGAGCCTGTGACCTGTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGAT... |
Task1_train_31673 | This variant lies on Chromosome X and affects the gene G6PD (glucose-6-phosphate dehydrogenase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not specified | CCCTGGAACCTACCCTGCTTAGCCTTACCACACCCCATCAGCCCCCAGCCCAACCCGACTCTCAGCCTTGCCACAGCCCCTTCTGGAGGCCACAGGAACCAGGACAAGAGGACTAAAACCACTGCCCCTGTGGCCGAAGCCTGGCCCCCAATCCTGTGCACACAGAGCCCACTGAGCCTGTGACCTGTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGATG... | CCCTGGAACCTACCCTGCTTAGCCTTACCACACCCCATCAGCCCCCAGCCCAACCCGACTCTCAGCCTTGCCACAGCCCCTTCTGGAGGCCACAGGAACCAGGACAAGAGGACTAAAACCACTGCCCCTGTGGCCGAAGCCTGGCCCCCAATCCTGTGCACACAGAGCCCACTGAGCCTGTGACCTGTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGATG... |
Task1_train_31674 | Given this variant in gene G6PD (glucose-6-phosphate dehydrogenase) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | CCCTGGAACCTACCCTGCTTAGCCTTACCACACCCCATCAGCCCCCAGCCCAACCCGACTCTCAGCCTTGCCACAGCCCCTTCTGGAGGCCACAGGAACCAGGACAAGAGGACTAAAACCACTGCCCCTGTGGCCGAAGCCTGGCCCCCAATCCTGTGCACACAGAGCCCACTGAGCCTGTGACCTGTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGATG... | CCCTGGAACCTACCCTGCTTAGCCTTACCACACCCCATCAGCCCCCAGCCCAACCCGACTCTCAGCCTTGCCACAGCCCCTTCTGGAGGCCACAGGAACCAGGACAAGAGGACTAAAACCACTGCCCCTGTGGCCGAAGCCTGGCCCCCAATCCTGTGCACACAGAGCCCACTGAGCCTGTGACCTGTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGATG... |
Task1_train_31675 | Given this variant in gene G6PD (glucose-6-phosphate dehydrogenase) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | CTGGAACCTACCCTGCTTAGCCTTACCACACCCCATCAGCCCCCAGCCCAACCCGACTCTCAGCCTTGCCACAGCCCCTTCTGGAGGCCACAGGAACCAGGACAAGAGGACTAAAACCACTGCCCCTGTGGCCGAAGCCTGGCCCCCAATCCTGTGCACACAGAGCCCACTGAGCCTGTGACCTGTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGATGCA... | CTGGAACCTACCCTGCTTAGCCTTACCACACCCCATCAGCCCCCAGCCCAACCCGACTCTCAGCCTTGCCACAGCCCCTTCTGGAGGCCACAGGAACCAGGACAAGAGGACTAAAACCACTGCCCCTGTGGCCGAAGCCTGGCCCCCAATCCTGTGCACACAGAGCCCACTGAGCCTGTGACCTGTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGATGCA... |
Task1_train_31676 | Consider this mutation in G6PD (glucose-6-phosphate dehydrogenase) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | AGCCTGTGACCTGTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCA... | AGCCTGTGACCTGTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCA... |
Task1_train_31677 | Here is a variant affecting G6PD (glucose-6-phosphate dehydrogenase) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Inborn genetic diseases | AGCCTGTGACCTGTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCA... | AGCCTGTGACCTGTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCA... |
Task1_train_31678 | A variant was discovered on Chromosome X, affecting G6PD (glucose-6-phosphate dehydrogenase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Malaria, susceptibility to | AGCCTGTGACCTGTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCA... | AGCCTGTGACCTGTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCA... |
Task1_train_31679 | A mutation on Chromosome X affecting G6PD (glucose-6-phosphate dehydrogenase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | AGCCTGTGACCTGTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCA... | AGCCTGTGACCTGTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCA... |
Task1_train_31680 | Here is a genetic alteration in G6PD (glucose-6-phosphate dehydrogenase) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | AGCCTGTGACCTGTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCA... | AGCCTGTGACCTGTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCA... |
Task1_train_31681 | A genetic alteration is present in G6PD (glucose-6-phosphate dehydrogenase) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; G6PD deficiency | AGCCTGTGACCTGTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCA... | AGCCTGTGACCTGTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCA... |
Task1_train_31682 | Consider a variant on Chromosome X in gene G6PD (glucose-6-phosphate dehydrogenase). Determine its clinical classification and disease relevance. | Pathogenic; Malaria, susceptibility to | AGCCTGTGACCTGTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCA... | AGCCTGTGACCTGTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCA... |
Task1_train_31683 | The gene G6PD (glucose-6-phosphate dehydrogenase) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Malaria, susceptibility to | GTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCAGCACCACCTGGT... | GTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCAGCACCACCTGGT... |
Task1_train_31684 | A variant was discovered in gene G6PD (glucose-6-phosphate dehydrogenase), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | GTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCAGCACCACCTGGT... | GTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCAGCACCACCTGGT... |
Task1_train_31685 | A variant was discovered on Chromosome X, affecting G6PD (glucose-6-phosphate dehydrogenase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | GTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCAGCACCACCTGGT... | GTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCAGCACCACCTGGT... |
Task1_train_31686 | Given this context: Chromosome X, gene G6PD (glucose-6-phosphate dehydrogenase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; G6PD deficiency | GTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCAGCACCACCTGGT... | GTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCAGCACCACCTGGT... |
Task1_train_31687 | A change on Chromosome X affects gene G6PD (glucose-6-phosphate dehydrogenase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Malaria, susceptibility to | GTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCAGCACCACCTGGT... | GTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCAGCACCACCTGGT... |
Task1_train_31688 | This mutation is located in gene G6PD (glucose-6-phosphate dehydrogenase) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | GTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCAGCACCACCTGGT... | GTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCAGCACCACCTGGT... |
Task1_train_31689 | This gene mutation involves G6PD (glucose-6-phosphate dehydrogenase) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Malaria, susceptibility to | GTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCAGCACCACCTGGT... | GTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCAGCACCACCTGGT... |
Task1_train_31690 | Gene G6PD (glucose-6-phosphate dehydrogenase), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; G6PD deficiency | GTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCAGCACCACCTGGT... | GTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCAGCACCACCTGGT... |
Task1_train_31691 | Gene G6PD (glucose-6-phosphate dehydrogenase), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | TGAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCAGCACCACCTGGTTATTTTGTTCCCTGCCGGCCTCACCTCCTAGAACCCGGGCCACAAGTGCAGGGACCATAGTGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGT... | TGAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCAGCACCACCTGGTTATTTTGTTCCCTGCCGGCCTCACCTCCTAGAACCCGGGCCACAAGTGCAGGGACCATAGTGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGT... |
Task1_train_31692 | This mutation is located in gene G6PD (glucose-6-phosphate dehydrogenase) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | GAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCAGCACCACCTGGTTATTTTGTTCCCTGCCGGCCTCACCTCCTAGAACCCGGGCCACAAGTGCAGGGACCATAGTGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTG... | GAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCAGCACCACCTGGTTATTTTGTTCCCTGCCGGCCTCACCTCCTAGAACCCGGGCCACAAGTGCAGGGACCATAGTGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTG... |
Task1_train_31693 | A variant affecting Chromosome X, within the gene G6PD (glucose-6-phosphate dehydrogenase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Malaria, susceptibility to | GAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCAGCACCACCTGGTTATTTTGTTCCCTGCCGGCCTCACCTCCTAGAACCCGGGCCACAAGTGCAGGGACCATAGTGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTG... | GAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCAGCACCACCTGGTTATTTTGTTCCCTGCCGGCCTCACCTCCTAGAACCCGGGCCACAAGTGCAGGGACCATAGTGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTG... |
Task1_train_31694 | Given this context: Chromosome X, gene G6PD (glucose-6-phosphate dehydrogenase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; G6PD deficiency | GAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCAGCACCACCTGGTTATTTTGTTCCCTGCCGGCCTCACCTCCTAGAACCCGGGCCACAAGTGCAGGGACCATAGTGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTG... | GAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCAGCACCACCTGGTTATTTTGTTCCCTGCCGGCCTCACCTCCTAGAACCCGGGCCACAAGTGCAGGGACCATAGTGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTG... |
Task1_train_31695 | A variant affecting Chromosome X, within the gene G6PD (glucose-6-phosphate dehydrogenase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Malaria, susceptibility to | GAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCAGCACCACCTGGTTATTTTGTTCCCTGCCGGCCTCACCTCCTAGAACCCGGGCCACAAGTGCAGGGACCATAGTGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTG... | GAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCAGCACCACCTGGTTATTTTGTTCCCTGCCGGCCTCACCTCCTAGAACCCGGGCCACAAGTGCAGGGACCATAGTGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTG... |
Task1_train_31696 | Gene G6PD (glucose-6-phosphate dehydrogenase) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | GAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCAGCACCACCTGGTTATTTTGTTCCCTGCCGGCCTCACCTCCTAGAACCCGGGCCACAAGTGCAGGGACCATAGTGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTG... | GAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCAGCACCACCTGGTTATTTTGTTCCCTGCCGGCCTCACCTCCTAGAACCCGGGCCACAAGTGCAGGGACCATAGTGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTG... |
Task1_train_31697 | Consider this mutation in G6PD (glucose-6-phosphate dehydrogenase) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | ACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCAGCACCACCTGGTTATTTTGTTCCCTGCCGGCCTCACCTCCTAGAACCCGGGCCACAAGTGCAGGGACCATAGTGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACAT... | ACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCAGCACCACCTGGTTATTTTGTTCCCTGCCGGCCTCACCTCCTAGAACCCGGGCCACAAGTGCAGGGACCATAGTGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACAT... |
Task1_train_31698 | This variant affects the gene G6PD (glucose-6-phosphate dehydrogenase) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not specified | ACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCAGCACCACCTGGTTATTTTGTTCCCTGCCGGCCTCACCTCCTAGAACCCGGGCCACAAGTGCAGGGACCATAGTGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACAT... | ACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCAGCACCACCTGGTTATTTTGTTCCCTGCCGGCCTCACCTCCTAGAACCCGGGCCACAAGTGCAGGGACCATAGTGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACAT... |
Task1_train_31699 | This variant affects gene G6PD (glucose-6-phosphate dehydrogenase) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | ATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCAGCACCACCTGGTTATTTTGTTCCCTGCCGGCCTCACCTCCTAGAACCCGGGCCACAAGTGCAGGGACCATAGTGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCC... | ATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCAGCACCACCTGGTTATTTTGTTCCCTGCCGGCCTCACCTCCTAGAACCCGGGCCACAAGTGCAGGGACCATAGTGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCC... |
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