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_2700 | A sequence alteration has been identified in USH2A (usherin) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Usher syndrome type 2A | AAGTAACTAACTAAAACACAAGTGTAGGGCAAGGTCCAAGAGGCAGAGATGTTCACAAGTCATACATGAGTGTATGAGACAGTGCTACCATCTGAAAAGCTAAAATGCACTAACATATAAGCCCATATTTATGTAACAAAATGATAGAAATATAAGCATTTTATATAGTTTGTATGTTTGTCCCCTCCAAATCTCATGTTGAAATGTGATCCCCAGTGTTGGAGGTGAGCCTGGTGGGAGATGTTTGGGTTATGGAGGTGGATCCTTCATGAAGTGCCTTCCCTTCAGCAGTGAGACCTCACTCTGTTAGTTCATGGCTG... | AAGTAACTAACTAAAACACAAGTGTAGGGCAAGGTCCAAGAGGCAGAGATGTTCACAAGTCATACATGAGTGTATGAGACAGTGCTACCATCTGAAAAGCTAAAATGCACTAACATATAAGCCCATATTTATGTAACAAAATGATAGAAATATAAGCATTTTATATAGTTTGTATGTTTGTCCCCTCCAAATCTCATGTTGAAATGTGATCCCCAGTGTTGGAGGTGAGCCTGGTGGGAGATGTTTGGGTTATGGAGGTGGATCCTTCATGAAGTGCCTTCCCTTCAGCAGTGAGACCTCACTCTGTTAGTTCATGGCTG... |
Task1_train_2701 | A mutation on Chromosome 1 affecting USH2A (usherin) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Retinitis pigmentosa 39 | AAGTAACTAACTAAAACACAAGTGTAGGGCAAGGTCCAAGAGGCAGAGATGTTCACAAGTCATACATGAGTGTATGAGACAGTGCTACCATCTGAAAAGCTAAAATGCACTAACATATAAGCCCATATTTATGTAACAAAATGATAGAAATATAAGCATTTTATATAGTTTGTATGTTTGTCCCCTCCAAATCTCATGTTGAAATGTGATCCCCAGTGTTGGAGGTGAGCCTGGTGGGAGATGTTTGGGTTATGGAGGTGGATCCTTCATGAAGTGCCTTCCCTTCAGCAGTGAGACCTCACTCTGTTAGTTCATGGCTG... | AAGTAACTAACTAAAACACAAGTGTAGGGCAAGGTCCAAGAGGCAGAGATGTTCACAAGTCATACATGAGTGTATGAGACAGTGCTACCATCTGAAAAGCTAAAATGCACTAACATATAAGCCCATATTTATGTAACAAAATGATAGAAATATAAGCATTTTATATAGTTTGTATGTTTGTCCCCTCCAAATCTCATGTTGAAATGTGATCCCCAGTGTTGGAGGTGAGCCTGGTGGGAGATGTTTGGGTTATGGAGGTGGATCCTTCATGAAGTGCCTTCCCTTCAGCAGTGAGACCTCACTCTGTTAGTTCATGGCTG... |
Task1_train_2702 | This alteration in USH2A (usherin) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Rare genetic deafness | GTGTATTGTAAAGATAATTTTCAAGCCAACCTCTAAAGGGAAATGGAATTTTTTATATCTATACCAACCACGTACCAAGGGAAGGCATTTACTACACTATTTAAAATACAGTTAAGAATATAAAGTTCAGGCTGAGCACGGTGGCTCACGCCTGTAATCTCAGCATGTTGGGAGACTCAGGCGGGTAGATCACTTGAGGTCAGGAGTTTGAGAGCAGCCTGAGCAACATGGCAAAACCCCATCTCTACAAAAAGTGAAAAAAAAAATCAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGTTACTTTGGAGGCTGAGA... | GTGTATTGTAAAGATAATTTTCAAGCCAACCTCTAAAGGGAAATGGAATTTTTTATATCTATACCAACCACGTACCAAGGGAAGGCATTTACTACACTATTTAAAATACAGTTAAGAATATAAAGTTCAGGCTGAGCACGGTGGCTCACGCCTGTAATCTCAGCATGTTGGGAGACTCAGGCGGGTAGATCACTTGAGGTCAGGAGTTTGAGAGCAGCCTGAGCAACATGGCAAAACCCCATCTCTACAAAAAGTGAAAAAAAAAATCAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGTTACTTTGGAGGCTGAGA... |
Task1_train_2703 | The gene USH2A (usherin) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Retinal dystrophy | GTGTATTGTAAAGATAATTTTCAAGCCAACCTCTAAAGGGAAATGGAATTTTTTATATCTATACCAACCACGTACCAAGGGAAGGCATTTACTACACTATTTAAAATACAGTTAAGAATATAAAGTTCAGGCTGAGCACGGTGGCTCACGCCTGTAATCTCAGCATGTTGGGAGACTCAGGCGGGTAGATCACTTGAGGTCAGGAGTTTGAGAGCAGCCTGAGCAACATGGCAAAACCCCATCTCTACAAAAAGTGAAAAAAAAAATCAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGTTACTTTGGAGGCTGAGA... | GTGTATTGTAAAGATAATTTTCAAGCCAACCTCTAAAGGGAAATGGAATTTTTTATATCTATACCAACCACGTACCAAGGGAAGGCATTTACTACACTATTTAAAATACAGTTAAGAATATAAAGTTCAGGCTGAGCACGGTGGCTCACGCCTGTAATCTCAGCATGTTGGGAGACTCAGGCGGGTAGATCACTTGAGGTCAGGAGTTTGAGAGCAGCCTGAGCAACATGGCAAAACCCCATCTCTACAAAAAGTGAAAAAAAAAATCAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGTTACTTTGGAGGCTGAGA... |
Task1_train_2704 | Here is a variant affecting USH2A (usherin) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; USH2A-related disorder | GTGTATTGTAAAGATAATTTTCAAGCCAACCTCTAAAGGGAAATGGAATTTTTTATATCTATACCAACCACGTACCAAGGGAAGGCATTTACTACACTATTTAAAATACAGTTAAGAATATAAAGTTCAGGCTGAGCACGGTGGCTCACGCCTGTAATCTCAGCATGTTGGGAGACTCAGGCGGGTAGATCACTTGAGGTCAGGAGTTTGAGAGCAGCCTGAGCAACATGGCAAAACCCCATCTCTACAAAAAGTGAAAAAAAAAATCAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGTTACTTTGGAGGCTGAGA... | GTGTATTGTAAAGATAATTTTCAAGCCAACCTCTAAAGGGAAATGGAATTTTTTATATCTATACCAACCACGTACCAAGGGAAGGCATTTACTACACTATTTAAAATACAGTTAAGAATATAAAGTTCAGGCTGAGCACGGTGGCTCACGCCTGTAATCTCAGCATGTTGGGAGACTCAGGCGGGTAGATCACTTGAGGTCAGGAGTTTGAGAGCAGCCTGAGCAACATGGCAAAACCCCATCTCTACAAAAAGTGAAAAAAAAAATCAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGTTACTTTGGAGGCTGAGA... |
Task1_train_2705 | This sequence change occurs on Chromosome 1, altering USH2A (usherin). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Usher syndrome type 2A | GTGTATTGTAAAGATAATTTTCAAGCCAACCTCTAAAGGGAAATGGAATTTTTTATATCTATACCAACCACGTACCAAGGGAAGGCATTTACTACACTATTTAAAATACAGTTAAGAATATAAAGTTCAGGCTGAGCACGGTGGCTCACGCCTGTAATCTCAGCATGTTGGGAGACTCAGGCGGGTAGATCACTTGAGGTCAGGAGTTTGAGAGCAGCCTGAGCAACATGGCAAAACCCCATCTCTACAAAAAGTGAAAAAAAAAATCAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGTTACTTTGGAGGCTGAGA... | GTGTATTGTAAAGATAATTTTCAAGCCAACCTCTAAAGGGAAATGGAATTTTTTATATCTATACCAACCACGTACCAAGGGAAGGCATTTACTACACTATTTAAAATACAGTTAAGAATATAAAGTTCAGGCTGAGCACGGTGGCTCACGCCTGTAATCTCAGCATGTTGGGAGACTCAGGCGGGTAGATCACTTGAGGTCAGGAGTTTGAGAGCAGCCTGAGCAACATGGCAAAACCCCATCTCTACAAAAAGTGAAAAAAAAAATCAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGTTACTTTGGAGGCTGAGA... |
Task1_train_2706 | A genetic alteration is present in USH2A (usherin) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Retinitis pigmentosa 39 | GTGTATTGTAAAGATAATTTTCAAGCCAACCTCTAAAGGGAAATGGAATTTTTTATATCTATACCAACCACGTACCAAGGGAAGGCATTTACTACACTATTTAAAATACAGTTAAGAATATAAAGTTCAGGCTGAGCACGGTGGCTCACGCCTGTAATCTCAGCATGTTGGGAGACTCAGGCGGGTAGATCACTTGAGGTCAGGAGTTTGAGAGCAGCCTGAGCAACATGGCAAAACCCCATCTCTACAAAAAGTGAAAAAAAAAATCAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGTTACTTTGGAGGCTGAGA... | GTGTATTGTAAAGATAATTTTCAAGCCAACCTCTAAAGGGAAATGGAATTTTTTATATCTATACCAACCACGTACCAAGGGAAGGCATTTACTACACTATTTAAAATACAGTTAAGAATATAAAGTTCAGGCTGAGCACGGTGGCTCACGCCTGTAATCTCAGCATGTTGGGAGACTCAGGCGGGTAGATCACTTGAGGTCAGGAGTTTGAGAGCAGCCTGAGCAACATGGCAAAACCCCATCTCTACAAAAAGTGAAAAAAAAAATCAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGTTACTTTGGAGGCTGAGA... |
Task1_train_2707 | Consider a variant on Chromosome 1 in gene USH2A (usherin). Determine its clinical classification and disease relevance. | Pathogenic; Retinitis pigmentosa 39 | GTGTATTGTAAAGATAATTTTCAAGCCAACCTCTAAAGGGAAATGGAATTTTTTATATCTATACCAACCACGTACCAAGGGAAGGCATTTACTACACTATTTAAAATACAGTTAAGAATATAAAGTTCAGGCTGAGCACGGTGGCTCACGCCTGTAATCTCAGCATGTTGGGAGACTCAGGCGGGTAGATCACTTGAGGTCAGGAGTTTGAGAGCAGCCTGAGCAACATGGCAAAACCCCATCTCTACAAAAAGTGAAAAAAAAAATCAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGTTACTTTGGAGGCTGAGA... | GTGTATTGTAAAGATAATTTTCAAGCCAACCTCTAAAGGGAAATGGAATTTTTTATATCTATACCAACCACGTACCAAGGGAAGGCATTTACTACACTATTTAAAATACAGTTAAGAATATAAAGTTCAGGCTGAGCACGGTGGCTCACGCCTGTAATCTCAGCATGTTGGGAGACTCAGGCGGGTAGATCACTTGAGGTCAGGAGTTTGAGAGCAGCCTGAGCAACATGGCAAAACCCCATCTCTACAAAAAGTGAAAAAAAAAATCAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGTTACTTTGGAGGCTGAGA... |
Task1_train_2708 | A variant affecting Chromosome 1, within the gene USH2A (usherin), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Usher syndrome type 2A | GTGTATTGTAAAGATAATTTTCAAGCCAACCTCTAAAGGGAAATGGAATTTTTTATATCTATACCAACCACGTACCAAGGGAAGGCATTTACTACACTATTTAAAATACAGTTAAGAATATAAAGTTCAGGCTGAGCACGGTGGCTCACGCCTGTAATCTCAGCATGTTGGGAGACTCAGGCGGGTAGATCACTTGAGGTCAGGAGTTTGAGAGCAGCCTGAGCAACATGGCAAAACCCCATCTCTACAAAAAGTGAAAAAAAAAATCAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGTTACTTTGGAGGCTGAGA... | GTGTATTGTAAAGATAATTTTCAAGCCAACCTCTAAAGGGAAATGGAATTTTTTATATCTATACCAACCACGTACCAAGGGAAGGCATTTACTACACTATTTAAAATACAGTTAAGAATATAAAGTTCAGGCTGAGCACGGTGGCTCACGCCTGTAATCTCAGCATGTTGGGAGACTCAGGCGGGTAGATCACTTGAGGTCAGGAGTTTGAGAGCAGCCTGAGCAACATGGCAAAACCCCATCTCTACAAAAAGTGAAAAAAAAAATCAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGTTACTTTGGAGGCTGAGA... |
Task1_train_2709 | This sequence change occurs on Chromosome 1, altering USH2A (usherin). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Usher syndrome | GTGTATTGTAAAGATAATTTTCAAGCCAACCTCTAAAGGGAAATGGAATTTTTTATATCTATACCAACCACGTACCAAGGGAAGGCATTTACTACACTATTTAAAATACAGTTAAGAATATAAAGTTCAGGCTGAGCACGGTGGCTCACGCCTGTAATCTCAGCATGTTGGGAGACTCAGGCGGGTAGATCACTTGAGGTCAGGAGTTTGAGAGCAGCCTGAGCAACATGGCAAAACCCCATCTCTACAAAAAGTGAAAAAAAAAATCAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGTTACTTTGGAGGCTGAGA... | GTGTATTGTAAAGATAATTTTCAAGCCAACCTCTAAAGGGAAATGGAATTTTTTATATCTATACCAACCACGTACCAAGGGAAGGCATTTACTACACTATTTAAAATACAGTTAAGAATATAAAGTTCAGGCTGAGCACGGTGGCTCACGCCTGTAATCTCAGCATGTTGGGAGACTCAGGCGGGTAGATCACTTGAGGTCAGGAGTTTGAGAGCAGCCTGAGCAACATGGCAAAACCCCATCTCTACAAAAAGTGAAAAAAAAAATCAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGTTACTTTGGAGGCTGAGA... |
Task1_train_2710 | The gene USH2A (usherin) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Usher syndrome type 2A | TCAAGCCAACCTCTAAAGGGAAATGGAATTTTTTATATCTATACCAACCACGTACCAAGGGAAGGCATTTACTACACTATTTAAAATACAGTTAAGAATATAAAGTTCAGGCTGAGCACGGTGGCTCACGCCTGTAATCTCAGCATGTTGGGAGACTCAGGCGGGTAGATCACTTGAGGTCAGGAGTTTGAGAGCAGCCTGAGCAACATGGCAAAACCCCATCTCTACAAAAAGTGAAAAAAAAAATCAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGTTACTTTGGAGGCTGAGATGAGAGGATCACTTGAGGCC... | TCAAGCCAACCTCTAAAGGGAAATGGAATTTTTTATATCTATACCAACCACGTACCAAGGGAAGGCATTTACTACACTATTTAAAATACAGTTAAGAATATAAAGTTCAGGCTGAGCACGGTGGCTCACGCCTGTAATCTCAGCATGTTGGGAGACTCAGGCGGGTAGATCACTTGAGGTCAGGAGTTTGAGAGCAGCCTGAGCAACATGGCAAAACCCCATCTCTACAAAAAGTGAAAAAAAAAATCAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGTTACTTTGGAGGCTGAGATGAGAGGATCACTTGAGGCC... |
Task1_train_2711 | Mutation context: Chromosome 1, Gene USH2A (usherin). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Retinitis pigmentosa 39 | TCAAGCCAACCTCTAAAGGGAAATGGAATTTTTTATATCTATACCAACCACGTACCAAGGGAAGGCATTTACTACACTATTTAAAATACAGTTAAGAATATAAAGTTCAGGCTGAGCACGGTGGCTCACGCCTGTAATCTCAGCATGTTGGGAGACTCAGGCGGGTAGATCACTTGAGGTCAGGAGTTTGAGAGCAGCCTGAGCAACATGGCAAAACCCCATCTCTACAAAAAGTGAAAAAAAAAATCAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGTTACTTTGGAGGCTGAGATGAGAGGATCACTTGAGGCC... | TCAAGCCAACCTCTAAAGGGAAATGGAATTTTTTATATCTATACCAACCACGTACCAAGGGAAGGCATTTACTACACTATTTAAAATACAGTTAAGAATATAAAGTTCAGGCTGAGCACGGTGGCTCACGCCTGTAATCTCAGCATGTTGGGAGACTCAGGCGGGTAGATCACTTGAGGTCAGGAGTTTGAGAGCAGCCTGAGCAACATGGCAAAACCCCATCTCTACAAAAAGTGAAAAAAAAAATCAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGTTACTTTGGAGGCTGAGATGAGAGGATCACTTGAGGCC... |
Task1_train_2712 | A mutation found in USH2A (usherin) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not specified | TCAAGCCAACCTCTAAAGGGAAATGGAATTTTTTATATCTATACCAACCACGTACCAAGGGAAGGCATTTACTACACTATTTAAAATACAGTTAAGAATATAAAGTTCAGGCTGAGCACGGTGGCTCACGCCTGTAATCTCAGCATGTTGGGAGACTCAGGCGGGTAGATCACTTGAGGTCAGGAGTTTGAGAGCAGCCTGAGCAACATGGCAAAACCCCATCTCTACAAAAAGTGAAAAAAAAAATCAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGTTACTTTGGAGGCTGAGATGAGAGGATCACTTGAGGCC... | TCAAGCCAACCTCTAAAGGGAAATGGAATTTTTTATATCTATACCAACCACGTACCAAGGGAAGGCATTTACTACACTATTTAAAATACAGTTAAGAATATAAAGTTCAGGCTGAGCACGGTGGCTCACGCCTGTAATCTCAGCATGTTGGGAGACTCAGGCGGGTAGATCACTTGAGGTCAGGAGTTTGAGAGCAGCCTGAGCAACATGGCAAAACCCCATCTCTACAAAAAGTGAAAAAAAAAATCAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGTTACTTTGGAGGCTGAGATGAGAGGATCACTTGAGGCC... |
Task1_train_2713 | Located on Chromosome 1, this mutation impacts USH2A (usherin). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Usher syndrome type 2A | GCATTTACTACACTATTTAAAATACAGTTAAGAATATAAAGTTCAGGCTGAGCACGGTGGCTCACGCCTGTAATCTCAGCATGTTGGGAGACTCAGGCGGGTAGATCACTTGAGGTCAGGAGTTTGAGAGCAGCCTGAGCAACATGGCAAAACCCCATCTCTACAAAAAGTGAAAAAAAAAATCAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGTTACTTTGGAGGCTGAGATGAGAGGATCACTTGAGGCCCAGAAGTCGAGGTTGCAACGAGCCATGATCATGCCATTGCATGCCAGCCTGGGTGACAGAGCAA... | GCATTTACTACACTATTTAAAATACAGTTAAGAATATAAAGTTCAGGCTGAGCACGGTGGCTCACGCCTGTAATCTCAGCATGTTGGGAGACTCAGGCGGGTAGATCACTTGAGGTCAGGAGTTTGAGAGCAGCCTGAGCAACATGGCAAAACCCCATCTCTACAAAAAGTGAAAAAAAAAATCAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGTTACTTTGGAGGCTGAGATGAGAGGATCACTTGAGGCCCAGAAGTCGAGGTTGCAACGAGCCATGATCATGCCATTGCATGCCAGCCTGGGTGACAGAGCAA... |
Task1_train_2714 | Gene USH2A (usherin) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Usher syndrome | ATCATTTCAAAATGTAAAGCTTGAAATCTGGCTTGCTCTGACATCTTAATGTGCTGTTAAGACAGTAAGTATGACAAAAACCTTGTTGAAAACAAAATTCATAATAATACCTCCCACTAATGGTGATTTCGTCCACTGCATAATATCTGTGTCTGAGGTTAACAGCAGTCTCAGTTGTATAGTACTGCCCATGAAAATGAAACCTTATTTGCGTGGCTTTTACGAACTCTTGAAGAGATGGGGTATTATAGAAGTTATTGTATCCAGGACGATAATTTGGTCCAGGTGTCAGGATGCTAAATGTGACATTGCCACGGGAA... | ATCATTTCAAAATGTAAAGCTTGAAATCTGGCTTGCTCTGACATCTTAATGTGCTGTTAAGACAGTAAGTATGACAAAAACCTTGTTGAAAACAAAATTCATAATAATACCTCCCACTAATGGTGATTTCGTCCACTGCATAATATCTGTGTCTGAGGTTAACAGCAGTCTCAGTTGTATAGTACTGCCCATGAAAATGAAACCTTATTTGCGTGGCTTTTACGAACTCTTGAAGAGATGGGGTATTATAGAAGTTATTGTATCCAGGACGATAATTTGGTCCAGGTGTCAGGATGCTAAATGTGACATTGCCACGGGAA... |
Task1_train_2715 | A genetic alteration is present in USH2A (usherin) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Usher syndrome | CCTTGTTGAAAACAAAATTCATAATAATACCTCCCACTAATGGTGATTTCGTCCACTGCATAATATCTGTGTCTGAGGTTAACAGCAGTCTCAGTTGTATAGTACTGCCCATGAAAATGAAACCTTATTTGCGTGGCTTTTACGAACTCTTGAAGAGATGGGGTATTATAGAAGTTATTGTATCCAGGACGATAATTTGGTCCAGGTGTCAGGATGCTAAATGTGACATTGCCACGGGAATATGGAGTAAAACTGTTAATGAAAGAAATTCGATGTCATGAAAATCTATTCACATTTTTGGCAAAACAGAAATCAAAATG... | CCTTGTTGAAAACAAAATTCATAATAATACCTCCCACTAATGGTGATTTCGTCCACTGCATAATATCTGTGTCTGAGGTTAACAGCAGTCTCAGTTGTATAGTACTGCCCATGAAAATGAAACCTTATTTGCGTGGCTTTTACGAACTCTTGAAGAGATGGGGTATTATAGAAGTTATTGTATCCAGGACGATAATTTGGTCCAGGTGTCAGGATGCTAAATGTGACATTGCCACGGGAATATGGAGTAAAACTGTTAATGAAAGAAATTCGATGTCATGAAAATCTATTCACATTTTTGGCAAAACAGAAATCAAAATG... |
Task1_train_2716 | A variant has been detected on Chromosome 1 in USH2A (usherin). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Usher syndrome type 2A | CGTCCACTGCATAATATCTGTGTCTGAGGTTAACAGCAGTCTCAGTTGTATAGTACTGCCCATGAAAATGAAACCTTATTTGCGTGGCTTTTACGAACTCTTGAAGAGATGGGGTATTATAGAAGTTATTGTATCCAGGACGATAATTTGGTCCAGGTGTCAGGATGCTAAATGTGACATTGCCACGGGAATATGGAGTAAAACTGTTAATGAAAGAAATTCGATGTCATGAAAATCTATTCACATTTTTGGCAAAACAGAAATCAAAATGTTGAGAAATTACTACACAGTATCAATAAAAGCTTAAATTATTCATTCTA... | CGTCCACTGCATAATATCTGTGTCTGAGGTTAACAGCAGTCTCAGTTGTATAGTACTGCCCATGAAAATGAAACCTTATTTGCGTGGCTTTTACGAACTCTTGAAGAGATGGGGTATTATAGAAGTTATTGTATCCAGGACGATAATTTGGTCCAGGTGTCAGGATGCTAAATGTGACATTGCCACGGGAATATGGAGTAAAACTGTTAATGAAAGAAATTCGATGTCATGAAAATCTATTCACATTTTTGGCAAAACAGAAATCAAAATGTTGAGAAATTACTACACAGTATCAATAAAAGCTTAAATTATTCATTCTA... |
Task1_train_2717 | This variant impacts the gene USH2A (usherin) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; Retinitis pigmentosa 39 | CGTCCACTGCATAATATCTGTGTCTGAGGTTAACAGCAGTCTCAGTTGTATAGTACTGCCCATGAAAATGAAACCTTATTTGCGTGGCTTTTACGAACTCTTGAAGAGATGGGGTATTATAGAAGTTATTGTATCCAGGACGATAATTTGGTCCAGGTGTCAGGATGCTAAATGTGACATTGCCACGGGAATATGGAGTAAAACTGTTAATGAAAGAAATTCGATGTCATGAAAATCTATTCACATTTTTGGCAAAACAGAAATCAAAATGTTGAGAAATTACTACACAGTATCAATAAAAGCTTAAATTATTCATTCTA... | CGTCCACTGCATAATATCTGTGTCTGAGGTTAACAGCAGTCTCAGTTGTATAGTACTGCCCATGAAAATGAAACCTTATTTGCGTGGCTTTTACGAACTCTTGAAGAGATGGGGTATTATAGAAGTTATTGTATCCAGGACGATAATTTGGTCCAGGTGTCAGGATGCTAAATGTGACATTGCCACGGGAATATGGAGTAAAACTGTTAATGAAAGAAATTCGATGTCATGAAAATCTATTCACATTTTTGGCAAAACAGAAATCAAAATGTTGAGAAATTACTACACAGTATCAATAAAAGCTTAAATTATTCATTCTA... |
Task1_train_2718 | A genetic alteration is present in USH2A (usherin) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Usher syndrome | CGTCCACTGCATAATATCTGTGTCTGAGGTTAACAGCAGTCTCAGTTGTATAGTACTGCCCATGAAAATGAAACCTTATTTGCGTGGCTTTTACGAACTCTTGAAGAGATGGGGTATTATAGAAGTTATTGTATCCAGGACGATAATTTGGTCCAGGTGTCAGGATGCTAAATGTGACATTGCCACGGGAATATGGAGTAAAACTGTTAATGAAAGAAATTCGATGTCATGAAAATCTATTCACATTTTTGGCAAAACAGAAATCAAAATGTTGAGAAATTACTACACAGTATCAATAAAAGCTTAAATTATTCATTCTA... | CGTCCACTGCATAATATCTGTGTCTGAGGTTAACAGCAGTCTCAGTTGTATAGTACTGCCCATGAAAATGAAACCTTATTTGCGTGGCTTTTACGAACTCTTGAAGAGATGGGGTATTATAGAAGTTATTGTATCCAGGACGATAATTTGGTCCAGGTGTCAGGATGCTAAATGTGACATTGCCACGGGAATATGGAGTAAAACTGTTAATGAAAGAAATTCGATGTCATGAAAATCTATTCACATTTTTGGCAAAACAGAAATCAAAATGTTGAGAAATTACTACACAGTATCAATAAAAGCTTAAATTATTCATTCTA... |
Task1_train_2719 | This alteration occurs within gene USH2A (usherin) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Usher syndrome type 2A | GATTGGGCATGCAATCTGAGAAGATCTCCAGAGAAGACTTCCAGAATCTCTCTGTGGGAGTCAAGAGGGAGACTGTAAGGACAAAGAGCTTAACAGTAATAGAACTTCTAGGAGTCGTTACAAATGAATGTCACTCGTTTAGTGCTTTCATGAGTATCCATTTAGTTTTAATAATTTGATGCATGAAACATAAAATAAAACTTATTTTTGGCCAAATAAACAAATTCATTATCATAAAATGTATATCAAAACCCACACATTTTAATATTAACTTTTTATTTATATCAAGAAGCATGCATAAGCCCTTGTCTGATTATTAA... | GATTGGGCATGCAATCTGAGAAGATCTCCAGAGAAGACTTCCAGAATCTCTCTGTGGGAGTCAAGAGGGAGACTGTAAGGACAAAGAGCTTAACAGTAATAGAACTTCTAGGAGTCGTTACAAATGAATGTCACTCGTTTAGTGCTTTCATGAGTATCCATTTAGTTTTAATAATTTGATGCATGAAACATAAAATAAAACTTATTTTTGGCCAAATAAACAAATTCATTATCATAAAATGTATATCAAAACCCACACATTTTAATATTAACTTTTTATTTATATCAAGAAGCATGCATAAGCCCTTGTCTGATTATTAA... |
Task1_train_2720 | This gene mutation involves USH2A (usherin) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Retinitis pigmentosa 39 | GATTGGGCATGCAATCTGAGAAGATCTCCAGAGAAGACTTCCAGAATCTCTCTGTGGGAGTCAAGAGGGAGACTGTAAGGACAAAGAGCTTAACAGTAATAGAACTTCTAGGAGTCGTTACAAATGAATGTCACTCGTTTAGTGCTTTCATGAGTATCCATTTAGTTTTAATAATTTGATGCATGAAACATAAAATAAAACTTATTTTTGGCCAAATAAACAAATTCATTATCATAAAATGTATATCAAAACCCACACATTTTAATATTAACTTTTTATTTATATCAAGAAGCATGCATAAGCCCTTGTCTGATTATTAA... | GATTGGGCATGCAATCTGAGAAGATCTCCAGAGAAGACTTCCAGAATCTCTCTGTGGGAGTCAAGAGGGAGACTGTAAGGACAAAGAGCTTAACAGTAATAGAACTTCTAGGAGTCGTTACAAATGAATGTCACTCGTTTAGTGCTTTCATGAGTATCCATTTAGTTTTAATAATTTGATGCATGAAACATAAAATAAAACTTATTTTTGGCCAAATAAACAAATTCATTATCATAAAATGTATATCAAAACCCACACATTTTAATATTAACTTTTTATTTATATCAAGAAGCATGCATAAGCCCTTGTCTGATTATTAA... |
Task1_train_2721 | A variant was discovered on Chromosome 1, affecting USH2A (usherin). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Usher syndrome | GATTGGGCATGCAATCTGAGAAGATCTCCAGAGAAGACTTCCAGAATCTCTCTGTGGGAGTCAAGAGGGAGACTGTAAGGACAAAGAGCTTAACAGTAATAGAACTTCTAGGAGTCGTTACAAATGAATGTCACTCGTTTAGTGCTTTCATGAGTATCCATTTAGTTTTAATAATTTGATGCATGAAACATAAAATAAAACTTATTTTTGGCCAAATAAACAAATTCATTATCATAAAATGTATATCAAAACCCACACATTTTAATATTAACTTTTTATTTATATCAAGAAGCATGCATAAGCCCTTGTCTGATTATTAA... | GATTGGGCATGCAATCTGAGAAGATCTCCAGAGAAGACTTCCAGAATCTCTCTGTGGGAGTCAAGAGGGAGACTGTAAGGACAAAGAGCTTAACAGTAATAGAACTTCTAGGAGTCGTTACAAATGAATGTCACTCGTTTAGTGCTTTCATGAGTATCCATTTAGTTTTAATAATTTGATGCATGAAACATAAAATAAAACTTATTTTTGGCCAAATAAACAAATTCATTATCATAAAATGTATATCAAAACCCACACATTTTAATATTAACTTTTTATTTATATCAAGAAGCATGCATAAGCCCTTGTCTGATTATTAA... |
Task1_train_2722 | This genomic variant is located on Chromosome 1, within the USH2A (usherin) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Retinal dystrophy | GATTGGGCATGCAATCTGAGAAGATCTCCAGAGAAGACTTCCAGAATCTCTCTGTGGGAGTCAAGAGGGAGACTGTAAGGACAAAGAGCTTAACAGTAATAGAACTTCTAGGAGTCGTTACAAATGAATGTCACTCGTTTAGTGCTTTCATGAGTATCCATTTAGTTTTAATAATTTGATGCATGAAACATAAAATAAAACTTATTTTTGGCCAAATAAACAAATTCATTATCATAAAATGTATATCAAAACCCACACATTTTAATATTAACTTTTTATTTATATCAAGAAGCATGCATAAGCCCTTGTCTGATTATTAA... | GATTGGGCATGCAATCTGAGAAGATCTCCAGAGAAGACTTCCAGAATCTCTCTGTGGGAGTCAAGAGGGAGACTGTAAGGACAAAGAGCTTAACAGTAATAGAACTTCTAGGAGTCGTTACAAATGAATGTCACTCGTTTAGTGCTTTCATGAGTATCCATTTAGTTTTAATAATTTGATGCATGAAACATAAAATAAAACTTATTTTTGGCCAAATAAACAAATTCATTATCATAAAATGTATATCAAAACCCACACATTTTAATATTAACTTTTTATTTATATCAAGAAGCATGCATAAGCCCTTGTCTGATTATTAA... |
Task1_train_2723 | A mutation in USH2A (usherin), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Usher syndrome | GATCTCCAGAGAAGACTTCCAGAATCTCTCTGTGGGAGTCAAGAGGGAGACTGTAAGGACAAAGAGCTTAACAGTAATAGAACTTCTAGGAGTCGTTACAAATGAATGTCACTCGTTTAGTGCTTTCATGAGTATCCATTTAGTTTTAATAATTTGATGCATGAAACATAAAATAAAACTTATTTTTGGCCAAATAAACAAATTCATTATCATAAAATGTATATCAAAACCCACACATTTTAATATTAACTTTTTATTTATATCAAGAAGCATGCATAAGCCCTTGTCTGATTATTAAGATACTTATTTAAATACCACAA... | GATCTCCAGAGAAGACTTCCAGAATCTCTCTGTGGGAGTCAAGAGGGAGACTGTAAGGACAAAGAGCTTAACAGTAATAGAACTTCTAGGAGTCGTTACAAATGAATGTCACTCGTTTAGTGCTTTCATGAGTATCCATTTAGTTTTAATAATTTGATGCATGAAACATAAAATAAAACTTATTTTTGGCCAAATAAACAAATTCATTATCATAAAATGTATATCAAAACCCACACATTTTAATATTAACTTTTTATTTATATCAAGAAGCATGCATAAGCCCTTGTCTGATTATTAAGATACTTATTTAAATACCACAA... |
Task1_train_2724 | A sequence alteration has been identified in USH2A (usherin) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Usher syndrome type 2A | GATCTCCAGAGAAGACTTCCAGAATCTCTCTGTGGGAGTCAAGAGGGAGACTGTAAGGACAAAGAGCTTAACAGTAATAGAACTTCTAGGAGTCGTTACAAATGAATGTCACTCGTTTAGTGCTTTCATGAGTATCCATTTAGTTTTAATAATTTGATGCATGAAACATAAAATAAAACTTATTTTTGGCCAAATAAACAAATTCATTATCATAAAATGTATATCAAAACCCACACATTTTAATATTAACTTTTTATTTATATCAAGAAGCATGCATAAGCCCTTGTCTGATTATTAAGATACTTATTTAAATACCACAA... | GATCTCCAGAGAAGACTTCCAGAATCTCTCTGTGGGAGTCAAGAGGGAGACTGTAAGGACAAAGAGCTTAACAGTAATAGAACTTCTAGGAGTCGTTACAAATGAATGTCACTCGTTTAGTGCTTTCATGAGTATCCATTTAGTTTTAATAATTTGATGCATGAAACATAAAATAAAACTTATTTTTGGCCAAATAAACAAATTCATTATCATAAAATGTATATCAAAACCCACACATTTTAATATTAACTTTTTATTTATATCAAGAAGCATGCATAAGCCCTTGTCTGATTATTAAGATACTTATTTAAATACCACAA... |
Task1_train_2725 | Consider this mutation in USH2A (usherin) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | CCAGAATCTCTCTGTGGGAGTCAAGAGGGAGACTGTAAGGACAAAGAGCTTAACAGTAATAGAACTTCTAGGAGTCGTTACAAATGAATGTCACTCGTTTAGTGCTTTCATGAGTATCCATTTAGTTTTAATAATTTGATGCATGAAACATAAAATAAAACTTATTTTTGGCCAAATAAACAAATTCATTATCATAAAATGTATATCAAAACCCACACATTTTAATATTAACTTTTTATTTATATCAAGAAGCATGCATAAGCCCTTGTCTGATTATTAAGATACTTATTTAAATACCACAATATTTTACCGTGTCTATT... | CCAGAATCTCTCTGTGGGAGTCAAGAGGGAGACTGTAAGGACAAAGAGCTTAACAGTAATAGAACTTCTAGGAGTCGTTACAAATGAATGTCACTCGTTTAGTGCTTTCATGAGTATCCATTTAGTTTTAATAATTTGATGCATGAAACATAAAATAAAACTTATTTTTGGCCAAATAAACAAATTCATTATCATAAAATGTATATCAAAACCCACACATTTTAATATTAACTTTTTATTTATATCAAGAAGCATGCATAAGCCCTTGTCTGATTATTAAGATACTTATTTAAATACCACAATATTTTACCGTGTCTATT... |
Task1_train_2726 | A mutation in USH2A (usherin), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Usher syndrome type 2 | TGTTATCTTCTTAAACTACATGGCCAATTTTTAGTGTGCGAAAATATAAACCACATAGTCCAGTTAATTATATGTTAATATTATTTCTCAGTTTTCATCTAATACTGTACAGTCCTACTTTAACAATGCTGTACATTAAAATCCAGCCCCATGCCCAAGAAAGAGAAAATATAGTTTATATACAGGCATTGTGCTTAGCACTTCATCCATTCATTCATTTAACAAATAAATATTGAATATCTAATACATGCCAGGTGCTTGAAACACAGTAATGTTTTACATGACATTGCTTCATTTGATCCTTACATTGGCCCTATGGG... | TGTTATCTTCTTAAACTACATGGCCAATTTTTAGTGTGCGAAAATATAAACCACATAGTCCAGTTAATTATATGTTAATATTATTTCTCAGTTTTCATCTAATACTGTACAGTCCTACTTTAACAATGCTGTACATTAAAATCCAGCCCCATGCCCAAGAAAGAGAAAATATAGTTTATATACAGGCATTGTGCTTAGCACTTCATCCATTCATTCATTTAACAAATAAATATTGAATATCTAATACATGCCAGGTGCTTGAAACACAGTAATGTTTTACATGACATTGCTTCATTTGATCCTTACATTGGCCCTATGGG... |
Task1_train_2727 | The variant affects gene USH2A (usherin), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Usher syndrome type 2 | CATAAGTACTTTAACCTTTTCTTGAAAGAAGAGAAAGATTTAAAGATTCATGAAGAAATTTTGCCTAAACTAGTAAATGACTCATATTTGACATGTATTGAAATGATAATGCTGATTTCAGTAGGCACTCTAAGAGCATTTTATCCCCAAGGGAGTAATTCAGTCATGGTTACCGCTCTGCATTTAGATTTTAAACTTTCTTTGTGAAGCTTTTAATGTACTACTGCCTGCCAAAACATGGCACAGTTTCACAGATAACACAAAATAAAGGCAAGTAAAGATAATTTTTTTGTCATTGTTGATACAAAAATATGCAACAA... | CATAAGTACTTTAACCTTTTCTTGAAAGAAGAGAAAGATTTAAAGATTCATGAAGAAATTTTGCCTAAACTAGTAAATGACTCATATTTGACATGTATTGAAATGATAATGCTGATTTCAGTAGGCACTCTAAGAGCATTTTATCCCCAAGGGAGTAATTCAGTCATGGTTACCGCTCTGCATTTAGATTTTAAACTTTCTTTGTGAAGCTTTTAATGTACTACTGCCTGCCAAAACATGGCACAGTTTCACAGATAACACAAAATAAAGGCAAGTAAAGATAATTTTTTTGTCATTGTTGATACAAAAATATGCAACAA... |
Task1_train_2728 | Gene USH2A (usherin) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | AACCTTTTCTTGAAAGAAGAGAAAGATTTAAAGATTCATGAAGAAATTTTGCCTAAACTAGTAAATGACTCATATTTGACATGTATTGAAATGATAATGCTGATTTCAGTAGGCACTCTAAGAGCATTTTATCCCCAAGGGAGTAATTCAGTCATGGTTACCGCTCTGCATTTAGATTTTAAACTTTCTTTGTGAAGCTTTTAATGTACTACTGCCTGCCAAAACATGGCACAGTTTCACAGATAACACAAAATAAAGGCAAGTAAAGATAATTTTTTTGTCATTGTTGATACAAAAATATGCAACAAACATATCTATTT... | AACCTTTTCTTGAAAGAAGAGAAAGATTTAAAGATTCATGAAGAAATTTTGCCTAAACTAGTAAATGACTCATATTTGACATGTATTGAAATGATAATGCTGATTTCAGTAGGCACTCTAAGAGCATTTTATCCCCAAGGGAGTAATTCAGTCATGGTTACCGCTCTGCATTTAGATTTTAAACTTTCTTTGTGAAGCTTTTAATGTACTACTGCCTGCCAAAACATGGCACAGTTTCACAGATAACACAAAATAAAGGCAAGTAAAGATAATTTTTTTGTCATTGTTGATACAAAAATATGCAACAAACATATCTATTT... |
Task1_train_2729 | A variant found in Chromosome 1 affects USH2A (usherin). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | AACCTTTTCTTGAAAGAAGAGAAAGATTTAAAGATTCATGAAGAAATTTTGCCTAAACTAGTAAATGACTCATATTTGACATGTATTGAAATGATAATGCTGATTTCAGTAGGCACTCTAAGAGCATTTTATCCCCAAGGGAGTAATTCAGTCATGGTTACCGCTCTGCATTTAGATTTTAAACTTTCTTTGTGAAGCTTTTAATGTACTACTGCCTGCCAAAACATGGCACAGTTTCACAGATAACACAAAATAAAGGCAAGTAAAGATAATTTTTTTGTCATTGTTGATACAAAAATATGCAACAAACATATCTATTT... | AACCTTTTCTTGAAAGAAGAGAAAGATTTAAAGATTCATGAAGAAATTTTGCCTAAACTAGTAAATGACTCATATTTGACATGTATTGAAATGATAATGCTGATTTCAGTAGGCACTCTAAGAGCATTTTATCCCCAAGGGAGTAATTCAGTCATGGTTACCGCTCTGCATTTAGATTTTAAACTTTCTTTGTGAAGCTTTTAATGTACTACTGCCTGCCAAAACATGGCACAGTTTCACAGATAACACAAAATAAAGGCAAGTAAAGATAATTTTTTTGTCATTGTTGATACAAAAATATGCAACAAACATATCTATTT... |
Task1_train_2730 | Here is a variant affecting USH2A (usherin) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Retinitis pigmentosa 39 | AAGGTTTTATATAAGTAGAAATAAAAGTTTTATATAAATTCTACTGCAAATTATATTTTTAACCCTTCAGTAGTTGAATATTTCTAATTTACTGAAGTGAATTTGTTTTTATCCCTACCCATCAGGTCTTAACCTGAAAAGAGTTTGCCCCTATTCATTTTTCTTCTGTTTAAATCTACAAGTGAGAATTCGACCATTACTCAAGAATGTATTTACCAAATGCAGACTTATTTTCCCAAGCTTACTGAAAATGCATTTCTTAATATGTTATTGATTATCTTCCTTGCTATTTTGTTTGCTTGTAAACATACTAGCTTTGG... | AAGGTTTTATATAAGTAGAAATAAAAGTTTTATATAAATTCTACTGCAAATTATATTTTTAACCCTTCAGTAGTTGAATATTTCTAATTTACTGAAGTGAATTTGTTTTTATCCCTACCCATCAGGTCTTAACCTGAAAAGAGTTTGCCCCTATTCATTTTTCTTCTGTTTAAATCTACAAGTGAGAATTCGACCATTACTCAAGAATGTATTTACCAAATGCAGACTTATTTTCCCAAGCTTACTGAAAATGCATTTCTTAATATGTTATTGATTATCTTCCTTGCTATTTTGTTTGCTTGTAAACATACTAGCTTTGG... |
Task1_train_2731 | Gene TGFB2 (transforming growth factor beta 2) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Atrial septal defect 1 | AAATCTCAGATGGAATCAGGAAAGTGTTGAGGATGCCATAAAATAAATGAAAAAGCCCTTTCTTCACAGCTTCCCAAAATAGCATTAGGTAAGGGTGACTTCTGTTTCACTTGAACCTAATTCACTCCAATTCAGTTAAGTCTCAGTTTATGTTCATTAGGAAAGTCTTTTGAGTTTAGTAGTCTTAGGAAGAGTGTGAACCAGCGGGTGACAAGGCATGTTCTATTGCCATGTGTTCAGTTGTTGAGGGCTTGAACGCAGCCTAAACTGAGGATTGACTAAAATAAACTGCCTAGATTGCCCTTGGACTATAGGTCAAA... | AAATCTCAGATGGAATCAGGAAAGTGTTGAGGATGCCATAAAATAAATGAAAAAGCCCTTTCTTCACAGCTTCCCAAAATAGCATTAGGTAAGGGTGACTTCTGTTTCACTTGAACCTAATTCACTCCAATTCAGTTAAGTCTCAGTTTATGTTCATTAGGAAAGTCTTTTGAGTTTAGTAGTCTTAGGAAGAGTGTGAACCAGCGGGTGACAAGGCATGTTCTATTGCCATGTGTTCAGTTGTTGAGGGCTTGAACGCAGCCTAAACTGAGGATTGACTAAAATAAACTGCCTAGATTGCCCTTGGACTATAGGTCAAA... |
Task1_train_2732 | The following genetic variant occurs in TGFB2 (transforming growth factor beta 2) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Loeys-Dietz syndrome 4 | AATCTCAGATGGAATCAGGAAAGTGTTGAGGATGCCATAAAATAAATGAAAAAGCCCTTTCTTCACAGCTTCCCAAAATAGCATTAGGTAAGGGTGACTTCTGTTTCACTTGAACCTAATTCACTCCAATTCAGTTAAGTCTCAGTTTATGTTCATTAGGAAAGTCTTTTGAGTTTAGTAGTCTTAGGAAGAGTGTGAACCAGCGGGTGACAAGGCATGTTCTATTGCCATGTGTTCAGTTGTTGAGGGCTTGAACGCAGCCTAAACTGAGGATTGACTAAAATAAACTGCCTAGATTGCCCTTGGACTATAGGTCAAAG... | AATCTCAGATGGAATCAGGAAAGTGTTGAGGATGCCATAAAATAAATGAAAAAGCCCTTTCTTCACAGCTTCCCAAAATAGCATTAGGTAAGGGTGACTTCTGTTTCACTTGAACCTAATTCACTCCAATTCAGTTAAGTCTCAGTTTATGTTCATTAGGAAAGTCTTTTGAGTTTAGTAGTCTTAGGAAGAGTGTGAACCAGCGGGTGACAAGGCATGTTCTATTGCCATGTGTTCAGTTGTTGAGGGCTTGAACGCAGCCTAAACTGAGGATTGACTAAAATAAACTGCCTAGATTGCCCTTGGACTATAGGTCAAAG... |
Task1_train_2733 | A mutation found in SLC30A10 (solute carrier family 30 member 10) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Hypermanganesemia with dystonia, polycythemia, and cirrhosis | ATGTTATTGTTGTTATCTTCTGGATTTTCCCTATAGGTTCACTCTGAGAATTCCTTTGTAAAACAGATGTGAGACACTCAAAGTGAAGGTATCTCCTGAATTATTAATTTTTCATTGTATTATTTCCATCAAAGCCCCACTTACAGGCTTTCCCCAAACCACAGGAAAGTAGAGGGTTGCTTAATCCTTGTTGGAATTCTCAAAGTCAAAATTGGGGATTAACCCCTTCTGGGATCACTCTGAAGCAAAGTCTATGCCCAAGAAGTTGGAAGGGAGAGATGTTGGCTACAATGGTGTCCAGCGAGAAACACATCTCAAAA... | ATGTTATTGTTGTTATCTTCTGGATTTTCCCTATAGGTTCACTCTGAGAATTCCTTTGTAAAACAGATGTGAGACACTCAAAGTGAAGGTATCTCCTGAATTATTAATTTTTCATTGTATTATTTCCATCAAAGCCCCACTTACAGGCTTTCCCCAAACCACAGGAAAGTAGAGGGTTGCTTAATCCTTGTTGGAATTCTCAAAGTCAAAATTGGGGATTAACCCCTTCTGGGATCACTCTGAAGCAAAGTCTATGCCCAAGAAGTTGGAAGGGAGAGATGTTGGCTACAATGGTGTCCAGCGAGAAACACATCTCAAAA... |
Task1_train_2734 | A mutation in EPRS1 (glutamyl-prolyl-tRNA synthetase 1), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Leukodystrophy, hypomyelinating, 15 | AGTCGAAACCTACCAGTGGCTATATTATTAACACGAATCAGCTGTGTGATTTCTAATCTTATATATAATGTCTACTAATTACCTGCAAATCACTTACCCGTGCTAAATGCATTTTCATCTGACCCACTATATTTCACTTAATCTATTTTTCATATGTGTGTGTATATATATATATATATATTTTTTTTTCCCCCCCAGCCTCCCAAGTAGCTGGGACTATCAGTGCATGCCACCACACCTGGCTAATTTTTTGTAGACTAGATTTTGCCATGTTGCCCAGGCTTAGTCTCAAACTCCTGGGCTCAAGCAATCTGCCCGCC... | AGTCGAAACCTACCAGTGGCTATATTATTAACACGAATCAGCTGTGTGATTTCTAATCTTATATATAATGTCTACTAATTACCTGCAAATCACTTACCCGTGCTAAATGCATTTTCATCTGACCCACTATATTTCACTTAATCTATTTTTCATATGTGTGTGTATATATATATATATATATTTTTTTTTCCCCCCCAGCCTCCCAAGTAGCTGGGACTATCAGTGCATGCCACCACACCTGGCTAATTTTTTGTAGACTAGATTTTGCCATGTTGCCCAGGCTTAGTCTCAAACTCCTGGGCTCAAGCAATCTGCCCGCC... |
Task1_train_2735 | A sequence alteration has been identified in EPRS1 (glutamyl-prolyl-tRNA synthetase 1) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Leukodystrophy, hypomyelinating, 15 | TATTTTCCTTACCTGAACACATGCTACACGGGGTGGTAATACTAAACCCATGTTGTCCCCATGAACCATGGTCATAACACCAATAGTTCGAGTTGTCAGGCCCCAGGAGTTTTGATAGGCAAATTGCTTCTCTCCTGGTATCTTTGGATCTTCAAAAACGATTTCAAACATTTTGGAAAAATTCTGCCCTAAATGATGTGATGTTCCTCCCTAAAATAGAGAGAGAAAAATAAGCTTCATTTTTAATAACCTATTATGCCCTTGAAAATGATTACTATAAGATCACATGCTTTAAAATGGCACTACACTTTTTTTCTCCC... | TATTTTCCTTACCTGAACACATGCTACACGGGGTGGTAATACTAAACCCATGTTGTCCCCATGAACCATGGTCATAACACCAATAGTTCGAGTTGTCAGGCCCCAGGAGTTTTGATAGGCAAATTGCTTCTCTCCTGGTATCTTTGGATCTTCAAAAACGATTTCAAACATTTTGGAAAAATTCTGCCCTAAATGATGTGATGTTCCTCCCTAAAATAGAGAGAGAAAAATAAGCTTCATTTTTAATAACCTATTATGCCCTTGAAAATGATTACTATAAGATCACATGCTTTAAAATGGCACTACACTTTTTTTCTCCC... |
Task1_train_2736 | Gene EPRS1 (glutamyl-prolyl-tRNA synthetase 1), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Intellectual disability | AGTCTCACCCTGTCACCCAGGCTGGATTGCAGTGGTGTGATCAGGACTCACTGCGGCCTTGACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTAGAACTACAAGCATGCACGACCAGGCCTAGCTAATTTTTTTTTTTTTTTTTTTTTTGGAGAGATGGGGTATCACTATGTTGTCTAGGCTGGTCTCAAAATCCCAGGCTCAGGCGATCCTCCTACCTTGGCCTTCTGAACTGCTGGGAGTAGAGGCATGAGAACCTGGCTTTTTTTTTTTTTTTTAACAGAAAAACAAAAACAAAAACAAAAA... | AGTCTCACCCTGTCACCCAGGCTGGATTGCAGTGGTGTGATCAGGACTCACTGCGGCCTTGACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTAGAACTACAAGCATGCACGACCAGGCCTAGCTAATTTTTTTTTTTTTTTTTTTTTTGGAGAGATGGGGTATCACTATGTTGTCTAGGCTGGTCTCAAAATCCCAGGCTCAGGCGATCCTCCTACCTTGGCCTTCTGAACTGCTGGGAGTAGAGGCATGAGAACCTGGCTTTTTTTTTTTTTTTTAACAGAAAAACAAAAACAAAAACAAAAA... |
Task1_train_2737 | This is a variant in EPRS1 (glutamyl-prolyl-tRNA synthetase 1), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Global developmental delay | CACAATATCTAGCAAAAACCTGCCCTGTATGCATACAAACTGTTAAACAATAATTTTCTGTGGAAGCTACTAGAAATGTAAGACACTTGCCCTCAAATAATCAAGATAGGTCTAAAAGTCCATTGGTTAGCCACCTCTGAAAATGTAGAAAACCTTTTCAAAATAAAAAAGACTCATTATAACTATTTTAATTTACTAATACTTCCCAAATGTGGCACTCCAGGTTTAATTATAGTGAAGTTCTGACAACATAATTACAGAATGAAAATCACCCAATTTAGAAGTTCAGGAGAGAAGCCATGAATAAGAAAGATATGCTC... | CACAATATCTAGCAAAAACCTGCCCTGTATGCATACAAACTGTTAAACAATAATTTTCTGTGGAAGCTACTAGAAATGTAAGACACTTGCCCTCAAATAATCAAGATAGGTCTAAAAGTCCATTGGTTAGCCACCTCTGAAAATGTAGAAAACCTTTTCAAAATAAAAAAGACTCATTATAACTATTTTAATTTACTAATACTTCCCAAATGTGGCACTCCAGGTTTAATTATAGTGAAGTTCTGACAACATAATTACAGAATGAAAATCACCCAATTTAGAAGTTCAGGAGAGAAGCCATGAATAAGAAAGATATGCTC... |
Task1_train_2738 | A variant affecting Chromosome 1, within the gene IARS2 (isoleucyl-tRNA synthetase 2, mitochondrial), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | CTCTGAGTACACTGTAAGTTCTGCAATGGTTTGATGATATTTCTTAGCTCAATATAAATAATATTAGACTATTTGTGTCAATAGTTTTTTTATGAGTTAATTTATACGTTTCCTTTCAAATTGCAGTTTTAAAAATGGTATTAAGTTTAAAAAAAAGAACATAAATTGTAGGCCAAATATTTTATGTATGAATGCTAATTATCATTTTATCTTTGCAGATTTTGAAATACATGGCCAAATATTTTATGTATGAATGATAATTATCATTTTATCTTTGCAGATTTTGAAAGACATAGCCAATCGATTCCATATGATGAATG... | CTCTGAGTACACTGTAAGTTCTGCAATGGTTTGATGATATTTCTTAGCTCAATATAAATAATATTAGACTATTTGTGTCAATAGTTTTTTTATGAGTTAATTTATACGTTTCCTTTCAAATTGCAGTTTTAAAAATGGTATTAAGTTTAAAAAAAAGAACATAAATTGTAGGCCAAATATTTTATGTATGAATGCTAATTATCATTTTATCTTTGCAGATTTTGAAATACATGGCCAAATATTTTATGTATGAATGATAATTATCATTTTATCTTTGCAGATTTTGAAAGACATAGCCAATCGATTCCATATGATGAATG... |
Task1_train_2739 | A genetic alteration is present in IARS2 (isoleucyl-tRNA synthetase 2, mitochondrial) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | TTGTGGTCCTTTTAACTTATTTCAGGCCTGACTCTCCAGTTAGGTCCCAAACCACGCTGTTTCTTTTTTAATTGTCTGAGAGCCTTTAAAATGTGTAGATCCTTTTGTGATTCGTAAGCGTGATGATTGGGTTTTCGCACTATTGTGTGAGGTGTGCCTCCCTCAAACCTTGTTACAGTGTTGGCACATTGCTGTCTGAAGTGAAAAAAGAATATGTAAAGTGTGATTGTGTAGTTAAATGGAAATGATGAAAAATGAGATTGCAACTTCAAAATGCGCATTTCATTATTATATTGTTGAAAATTATACACTTTAAAGCA... | TTGTGGTCCTTTTAACTTATTTCAGGCCTGACTCTCCAGTTAGGTCCCAAACCACGCTGTTTCTTTTTTAATTGTCTGAGAGCCTTTAAAATGTGTAGATCCTTTTGTGATTCGTAAGCGTGATGATTGGGTTTTCGCACTATTGTGTGAGGTGTGCCTCCCTCAAACCTTGTTACAGTGTTGGCACATTGCTGTCTGAAGTGAAAAAAGAATATGTAAAGTGTGATTGTGTAGTTAAATGGAAATGATGAAAAATGAGATTGCAACTTCAAAATGCGCATTTCATTATTATATTGTTGAAAATTATACACTTTAAAGCA... |
Task1_train_2740 | Here is a genetic alteration in IARS2 (isoleucyl-tRNA synthetase 2, mitochondrial) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | TTTGCATTAGTGTACCCTTAAGTCAGAGGTGTACATACCAATTTTGCCCAAATCAAAAATAAATGAGGCATAAATGAAGGAACACTAATGAATTGTTGGTGACGTCCACTGTTTGCTGTTGTTAAAATGGTGTGATTTTGTTATTTACAATCTCATTCTTTCCTTAATTAATGTCCTTTCGTAGTTCTCAGAGTAAAATAGTATTTTCTGAGTGTAGTCAAATGTGTTATCCAGAAATGACATTTGGAAGATTCCCAGGAGTTCTTGCATATTGCCTGTTTTGTATTTGTCTCATTGAAACATATTTTTGAAAGGAGCAT... | TTTGCATTAGTGTACCCTTAAGTCAGAGGTGTACATACCAATTTTGCCCAAATCAAAAATAAATGAGGCATAAATGAAGGAACACTAATGAATTGTTGGTGACGTCCACTGTTTGCTGTTGTTAAAATGGTGTGATTTTGTTATTTACAATCTCATTCTTTCCTTAATTAATGTCCTTTCGTAGTTCTCAGAGTAAAATAGTATTTTCTGAGTGTAGTCAAATGTGTTATCCAGAAATGACATTTGGAAGATTCCCAGGAGTTCTTGCATATTGCCTGTTTTGTATTTGTCTCATTGAAACATATTTTTGAAAGGAGCAT... |
Task1_train_2741 | This variant affects gene IARS2 (isoleucyl-tRNA synthetase 2, mitochondrial) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | GCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGATTGGGTTCCGGAGTCAAGTCTGAGTATAAAGGTTTGACCTCCCGCTTACTAGCTTTCTGATTTGGGGCAACTTATTCTGTAATCTGTTTCTTCATCTGTAAAATGGGTATAATAATACTTACCTCGTGATTGAGAAGGAAAAGCAATAATGTGCTTAAAGCTGTGCTTGATAAAGTGTTCAAAAAATCATCACTACTAATATCAGACGATGAACATAATGCTTGTTCTCAGGAGTTCTCAAATCCTGAGGGGAAGAGAGAGATATATATG... | GCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGATTGGGTTCCGGAGTCAAGTCTGAGTATAAAGGTTTGACCTCCCGCTTACTAGCTTTCTGATTTGGGGCAACTTATTCTGTAATCTGTTTCTTCATCTGTAAAATGGGTATAATAATACTTACCTCGTGATTGAGAAGGAAAAGCAATAATGTGCTTAAAGCTGTGCTTGATAAAGTGTTCAAAAAATCATCACTACTAATATCAGACGATGAACATAATGCTTGTTCTCAGGAGTTCTCAAATCCTGAGGGGAAGAGAGAGATATATATG... |
Task1_train_2742 | Gene IARS2 (isoleucyl-tRNA synthetase 2, mitochondrial) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | TCTGATTTGGGGCAACTTATTCTGTAATCTGTTTCTTCATCTGTAAAATGGGTATAATAATACTTACCTCGTGATTGAGAAGGAAAAGCAATAATGTGCTTAAAGCTGTGCTTGATAAAGTGTTCAAAAAATCATCACTACTAATATCAGACGATGAACATAATGCTTGTTCTCAGGAGTTCTCAAATCCTGAGGGGAAGAGAGAGATATATATGTGCAATTATATGGTAACAGTGTATAATATTAGCAGTATCCTTGTAGAAGAGGCCTTGATGCCAAGTCTTCATCTGTTGCTCCAGTGTGCAGGTGACGGTCCTACC... | TCTGATTTGGGGCAACTTATTCTGTAATCTGTTTCTTCATCTGTAAAATGGGTATAATAATACTTACCTCGTGATTGAGAAGGAAAAGCAATAATGTGCTTAAAGCTGTGCTTGATAAAGTGTTCAAAAAATCATCACTACTAATATCAGACGATGAACATAATGCTTGTTCTCAGGAGTTCTCAAATCCTGAGGGGAAGAGAGAGATATATATGTGCAATTATATGGTAACAGTGTATAATATTAGCAGTATCCTTGTAGAAGAGGCCTTGATGCCAAGTCTTCATCTGTTGCTCCAGTGTGCAGGTGACGGTCCTACC... |
Task1_train_2743 | This gene mutation involves IARS2 (isoleucyl-tRNA synthetase 2, mitochondrial) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | CTGATTTGGGGCAACTTATTCTGTAATCTGTTTCTTCATCTGTAAAATGGGTATAATAATACTTACCTCGTGATTGAGAAGGAAAAGCAATAATGTGCTTAAAGCTGTGCTTGATAAAGTGTTCAAAAAATCATCACTACTAATATCAGACGATGAACATAATGCTTGTTCTCAGGAGTTCTCAAATCCTGAGGGGAAGAGAGAGATATATATGTGCAATTATATGGTAACAGTGTATAATATTAGCAGTATCCTTGTAGAAGAGGCCTTGATGCCAAGTCTTCATCTGTTGCTCCAGTGTGCAGGTGACGGTCCTACCT... | CTGATTTGGGGCAACTTATTCTGTAATCTGTTTCTTCATCTGTAAAATGGGTATAATAATACTTACCTCGTGATTGAGAAGGAAAAGCAATAATGTGCTTAAAGCTGTGCTTGATAAAGTGTTCAAAAAATCATCACTACTAATATCAGACGATGAACATAATGCTTGTTCTCAGGAGTTCTCAAATCCTGAGGGGAAGAGAGAGATATATATGTGCAATTATATGGTAACAGTGTATAATATTAGCAGTATCCTTGTAGAAGAGGCCTTGATGCCAAGTCTTCATCTGTTGCTCCAGTGTGCAGGTGACGGTCCTACCT... |
Task1_train_2744 | Mutation context: Chromosome 1, Gene RAB3GAP2 (RAB3 GTPase activating non-catalytic protein subunit 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Martsolf syndrome 1 | ACTGCTGGGTGGTAGCTACTGAAGCTAAACATGTGTCTGCTCTATCACCCGACAATTCTGCTGGGTATATACACTAGAGAAATGAATACAGAACATATGTATGAGATTGTTGGGAACAGTTTTATTCCCAACAGCCAAACACTAGAAACAATCCCAATGTCTGCCAATTGATTTTTTTCACATATAACTGCAAACTAAAGTATGTAGTTATATAAAAAAGTATTAAAAACAAAATATATAAAAAACAAACAAACAAACAAACCAGGCTGGGCAACATGGCCAGAACCCATCCCTATGAAAAAATGTTTAAAAAATTAGGC... | ACTGCTGGGTGGTAGCTACTGAAGCTAAACATGTGTCTGCTCTATCACCCGACAATTCTGCTGGGTATATACACTAGAGAAATGAATACAGAACATATGTATGAGATTGTTGGGAACAGTTTTATTCCCAACAGCCAAACACTAGAAACAATCCCAATGTCTGCCAATTGATTTTTTTCACATATAACTGCAAACTAAAGTATGTAGTTATATAAAAAAGTATTAAAAACAAAATATATAAAAAACAAACAAACAAACAAACCAGGCTGGGCAACATGGCCAGAACCCATCCCTATGAAAAAATGTTTAAAAAATTAGGC... |
Task1_train_2745 | The following genetic variant occurs in FBXO28 (F-box protein 28) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Developmental and epileptic encephalopathy 100 | GGCCAAGATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTAGCCAGACGTGATGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTCGAACCAGCTGACATCGCACCACTGCACTCTAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAAAAATAAATAAATAAATAAAGGAAAATAATAGAAGCATGCTTATCCTTCAATGTGTATTTCCTAAAGACAAAGACATTGTCTTATATGACCATAATACAATTACCCAAATCGAAAAATTTAATATGATTACAGTATAATCTAATATA... | GGCCAAGATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTAGCCAGACGTGATGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTCGAACCAGCTGACATCGCACCACTGCACTCTAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAAAAATAAATAAATAAATAAAGGAAAATAATAGAAGCATGCTTATCCTTCAATGTGTATTTCCTAAAGACAAAGACATTGTCTTATATGACCATAATACAATTACCCAAATCGAAAAATTTAATATGATTACAGTATAATCTAATATA... |
Task1_train_2746 | Gene FBXO28 (F-box protein 28), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Developmental and epileptic encephalopathy 100 | AAAGAATTTAGTAAAACTTTTTGTTTTGTTCAGATTAGTTAGCTCCCTGTAGTACTCAGTGAGGCAACCGAGTGGCTTTCTGTAATTGAGTAATAAAGCCTACACATCTCAGCATTAATGTATCTGTTATTTATTGAGTACCTATTATGCGCACAGCACTGTACTGTGTCCTGTGGAGACTAAAAAGAAGTGTAATACGTGGTGTCTGCTCTCAAGGATCTTACTATTTCAAAAGGTAAGATATACCCAGACTTGAAGTTAAATAAATTATCATAGGCAAAACAAATAAGGCAATGTCCAATTAAATGTCAAATGAGAGC... | AAAGAATTTAGTAAAACTTTTTGTTTTGTTCAGATTAGTTAGCTCCCTGTAGTACTCAGTGAGGCAACCGAGTGGCTTTCTGTAATTGAGTAATAAAGCCTACACATCTCAGCATTAATGTATCTGTTATTTATTGAGTACCTATTATGCGCACAGCACTGTACTGTGTCCTGTGGAGACTAAAAAGAAGTGTAATACGTGGTGTCTGCTCTCAAGGATCTTACTATTTCAAAAGGTAAGATATACCCAGACTTGAAGTTAAATAAATTATCATAGGCAAAACAAATAAGGCAATGTCCAATTAAATGTCAAATGAGAGC... |
Task1_train_2747 | Given this context: Chromosome 1, gene DEGS1 (delta 4-desaturase, sphingolipid 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Leukodystrophy | ATGGCATCACTGTACTTCAGCCTGAGTGACAGAGGTAGACCCTGTCTCTAAATATTTTAAGGTTCATTAAAATAATATATTTTCAATAAAATAATATTTCAATAAAATAATATTTTAAGGTTCATTCATGTTATAGCATATGTCAGTGTATGATTCCTTTTTCTGGCTGAATAATATTCCTTTGTATGGATATACCAGGTGTTTAACATTTTGAGGAACTGCTGTACAGTTTTCCAAAGCAGCTGCACCATTTTATATTCCCACTAGCAAAGTATGAGGGTTCTAATTTCTCCACATCCTTGTTTTTACCTACCTTTTTT... | ATGGCATCACTGTACTTCAGCCTGAGTGACAGAGGTAGACCCTGTCTCTAAATATTTTAAGGTTCATTAAAATAATATATTTTCAATAAAATAATATTTCAATAAAATAATATTTTAAGGTTCATTCATGTTATAGCATATGTCAGTGTATGATTCCTTTTTCTGGCTGAATAATATTCCTTTGTATGGATATACCAGGTGTTTAACATTTTGAGGAACTGCTGTACAGTTTTCCAAAGCAGCTGCACCATTTTATATTCCCACTAGCAAAGTATGAGGGTTCTAATTTCTCCACATCCTTGTTTTTACCTACCTTTTTT... |
Task1_train_2748 | Here is a variant affecting DEGS1 (delta 4-desaturase, sphingolipid 1) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Leukodystrophy, hypomyelinating, 18 | ATGGCATCACTGTACTTCAGCCTGAGTGACAGAGGTAGACCCTGTCTCTAAATATTTTAAGGTTCATTAAAATAATATATTTTCAATAAAATAATATTTCAATAAAATAATATTTTAAGGTTCATTCATGTTATAGCATATGTCAGTGTATGATTCCTTTTTCTGGCTGAATAATATTCCTTTGTATGGATATACCAGGTGTTTAACATTTTGAGGAACTGCTGTACAGTTTTCCAAAGCAGCTGCACCATTTTATATTCCCACTAGCAAAGTATGAGGGTTCTAATTTCTCCACATCCTTGTTTTTACCTACCTTTTTT... | ATGGCATCACTGTACTTCAGCCTGAGTGACAGAGGTAGACCCTGTCTCTAAATATTTTAAGGTTCATTAAAATAATATATTTTCAATAAAATAATATTTCAATAAAATAATATTTTAAGGTTCATTCATGTTATAGCATATGTCAGTGTATGATTCCTTTTTCTGGCTGAATAATATTCCTTTGTATGGATATACCAGGTGTTTAACATTTTGAGGAACTGCTGTACAGTTTTCCAAAGCAGCTGCACCATTTTATATTCCCACTAGCAAAGTATGAGGGTTCTAATTTCTCCACATCCTTGTTTTTACCTACCTTTTTT... |
Task1_train_2749 | The gene WDR26 (WD repeat domain 26), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Skraban-Deardorff syndrome | ATCGATTGCTTGAGACCAGAAGTTCAAGACCAGCTGGGGCAAGAGACCCCATCTCTACAAAAAAACTTAAGAATTAGCCAGGCATGGTAGTGCATGCCTATATAGTCCTAGCTACTCAGAAGGCTGAGGTGAGTGGATCACTTGAGCCTAAGGCTATATAGTAGCCTATGATCATGCCACTGCACTCTATCCTGGGCAACAGAGAGGCTGTGTCTAAAAAAGAAACCAACAAAAACATCAAGAACAAAATAAAGCTATACTTTAATTTTAGAGACCATTAAAATAGTAGGTATATTTTTACTCAAAATACTCCTAATGTC... | ATCGATTGCTTGAGACCAGAAGTTCAAGACCAGCTGGGGCAAGAGACCCCATCTCTACAAAAAAACTTAAGAATTAGCCAGGCATGGTAGTGCATGCCTATATAGTCCTAGCTACTCAGAAGGCTGAGGTGAGTGGATCACTTGAGCCTAAGGCTATATAGTAGCCTATGATCATGCCACTGCACTCTATCCTGGGCAACAGAGAGGCTGTGTCTAAAAAAGAAACCAACAAAAACATCAAGAACAAAATAAAGCTATACTTTAATTTTAGAGACCATTAAAATAGTAGGTATATTTTTACTCAAAATACTCCTAATGTC... |
Task1_train_2750 | This variant lies on Chromosome 1 and affects the gene WDR26 (WD repeat domain 26). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Skraban-Deardorff syndrome | TTGGAAGGCTGAGGCAGGTGGATCACCTGAGGTCAGAAGTTCGAGACCAGCCTGGCCAATGTGGTGAGACCCCATCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCGCATGCCTATAATCCCAGCTACTCAGGAGGCAAGGCTGAAGCATCACTTGAACCCAGGAGGCGAAGGCTGCAGTGAGCTGAGATTGCACCATTGCACCCCAGCCTGGGTGACAATAGTGAAACTCTGTCTCAAAAAAAAAAAAGGAAAGAAATTAAGAGTGAAGACAATGTAACTAGGTGGGAAGCTACTATAATATTCTAGGAGAGA... | TTGGAAGGCTGAGGCAGGTGGATCACCTGAGGTCAGAAGTTCGAGACCAGCCTGGCCAATGTGGTGAGACCCCATCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCGCATGCCTATAATCCCAGCTACTCAGGAGGCAAGGCTGAAGCATCACTTGAACCCAGGAGGCGAAGGCTGCAGTGAGCTGAGATTGCACCATTGCACCCCAGCCTGGGTGACAATAGTGAAACTCTGTCTCAAAAAAAAAAAAGGAAAGAAATTAAGAGTGAAGACAATGTAACTAGGTGGGAAGCTACTATAATATTCTAGGAGAGA... |
Task1_train_2751 | Here is a mutation in LBR (lamin B receptor) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | AGTTTTAAACAGCAGTTGGCCAGGGGTCCCAAACAGATGATCCTAGGAAAACAGGAGGCTGGGCAGGGGTGGGAATCTAAGGGCTCCTGTCTTGGTCCCAAAAATCTCAGTTTCAAGCAAGAAAGGGAAAAAAAAAAGGCTCCAAAGTGATCAAAATGTTGCTACATTTTATTTTCAACTTAAAACTTCATTATAAAATTTGCCAAATAAACATGTCAAAAACAAACTTAAAAACAAAGTGTAGCTGATATCCAGAAATTGCAGCACTGTATTGATAAAGGGCTCTTTTCATTACCAGGGAAAGAATTTAATGTCCTTCC... | AGTTTTAAACAGCAGTTGGCCAGGGGTCCCAAACAGATGATCCTAGGAAAACAGGAGGCTGGGCAGGGGTGGGAATCTAAGGGCTCCTGTCTTGGTCCCAAAAATCTCAGTTTCAAGCAAGAAAGGGAAAAAAAAAAGGCTCCAAAGTGATCAAAATGTTGCTACATTTTATTTTCAACTTAAAACTTCATTATAAAATTTGCCAAATAAACATGTCAAAAACAAACTTAAAAACAAAGTGTAGCTGATATCCAGAAATTGCAGCACTGTATTGATAAAGGGCTCTTTTCATTACCAGGGAAAGAATTTAATGTCCTTCC... |
Task1_train_2752 | Here is a variant affecting LBR (lamin B receptor) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Greenberg dysplasia | AGTTTTAAACAGCAGTTGGCCAGGGGTCCCAAACAGATGATCCTAGGAAAACAGGAGGCTGGGCAGGGGTGGGAATCTAAGGGCTCCTGTCTTGGTCCCAAAAATCTCAGTTTCAAGCAAGAAAGGGAAAAAAAAAAGGCTCCAAAGTGATCAAAATGTTGCTACATTTTATTTTCAACTTAAAACTTCATTATAAAATTTGCCAAATAAACATGTCAAAAACAAACTTAAAAACAAAGTGTAGCTGATATCCAGAAATTGCAGCACTGTATTGATAAAGGGCTCTTTTCATTACCAGGGAAAGAATTTAATGTCCTTCC... | AGTTTTAAACAGCAGTTGGCCAGGGGTCCCAAACAGATGATCCTAGGAAAACAGGAGGCTGGGCAGGGGTGGGAATCTAAGGGCTCCTGTCTTGGTCCCAAAAATCTCAGTTTCAAGCAAGAAAGGGAAAAAAAAAAGGCTCCAAAGTGATCAAAATGTTGCTACATTTTATTTTCAACTTAAAACTTCATTATAAAATTTGCCAAATAAACATGTCAAAAACAAACTTAAAAACAAAGTGTAGCTGATATCCAGAAATTGCAGCACTGTATTGATAAAGGGCTCTTTTCATTACCAGGGAAAGAATTTAATGTCCTTCC... |
Task1_train_2753 | Consider a variant on Chromosome 1 in gene LBR (lamin B receptor). Determine its clinical classification and disease relevance. | Pathogenic; Pelger-Huët anomaly | CTAGGAAAACAGGAGGCTGGGCAGGGGTGGGAATCTAAGGGCTCCTGTCTTGGTCCCAAAAATCTCAGTTTCAAGCAAGAAAGGGAAAAAAAAAAGGCTCCAAAGTGATCAAAATGTTGCTACATTTTATTTTCAACTTAAAACTTCATTATAAAATTTGCCAAATAAACATGTCAAAAACAAACTTAAAAACAAAGTGTAGCTGATATCCAGAAATTGCAGCACTGTATTGATAAAGGGCTCTTTTCATTACCAGGGAAAGAATTTAATGTCCTTCCTTCCTCCCCAAAAGCTTCCTTGGTGCAATCCAGTACAGAAAA... | CTAGGAAAACAGGAGGCTGGGCAGGGGTGGGAATCTAAGGGCTCCTGTCTTGGTCCCAAAAATCTCAGTTTCAAGCAAGAAAGGGAAAAAAAAAAGGCTCCAAAGTGATCAAAATGTTGCTACATTTTATTTTCAACTTAAAACTTCATTATAAAATTTGCCAAATAAACATGTCAAAAACAAACTTAAAAACAAAGTGTAGCTGATATCCAGAAATTGCAGCACTGTATTGATAAAGGGCTCTTTTCATTACCAGGGAAAGAATTTAATGTCCTTCCTTCCTCCCCAAAAGCTTCCTTGGTGCAATCCAGTACAGAAAA... |
Task1_train_2754 | Here is a genetic alteration in LBR (lamin B receptor) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Greenberg dysplasia | ATATTTTCCTATGTTAATAACTTAGTTATACTCTAATGCTTAATAGCATCTGTAATTTCTCTTAAAAATGATTTCTATGCTCTGAGGAAATTTCCAAAGCAGACTCCTAGGCTCAAGAGATCCTCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCCTGATTCTTAAGAACAACTCAAAACCTCTAAATCCCACTATGTAAAAAGATGGTAACCCGTCCGAAATCTATCACACTACTTTAATCATCCACCTAGGAAACGCTCTGAAGGCAAAACAAATATAGTTACATCCATGAAAG... | ATATTTTCCTATGTTAATAACTTAGTTATACTCTAATGCTTAATAGCATCTGTAATTTCTCTTAAAAATGATTTCTATGCTCTGAGGAAATTTCCAAAGCAGACTCCTAGGCTCAAGAGATCCTCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCCTGATTCTTAAGAACAACTCAAAACCTCTAAATCCCACTATGTAAAAAGATGGTAACCCGTCCGAAATCTATCACACTACTTTAATCATCCACCTAGGAAACGCTCTGAAGGCAAAACAAATATAGTTACATCCATGAAAG... |
Task1_train_2755 | Consider a variant on Chromosome 1 in gene LBR (lamin B receptor). Determine its clinical classification and disease relevance. | Pathogenic; not provided | GGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCACGCACGGTAGCGGGCACCTGTAATTCCAGCTACTTCGGAAGCTGAGGCAGGAAAATCTCTTGAACCCGGAGACGGAGGTTGCATTGAGCCAAGACCGCGCCATTGCACTCCAGCCTGGGCAACAAGAATGAAACTCCGCCTCAAAAAAAAAAAAAACAACTTTGATCTTTCACGTAATCAGACTGAATGTC... | GGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCACGCACGGTAGCGGGCACCTGTAATTCCAGCTACTTCGGAAGCTGAGGCAGGAAAATCTCTTGAACCCGGAGACGGAGGTTGCATTGAGCCAAGACCGCGCCATTGCACTCCAGCCTGGGCAACAAGAATGAAACTCCGCCTCAAAAAAAAAAAAAACAACTTTGATCTTTCACGTAATCAGACTGAATGTC... |
Task1_train_2756 | This variant lies on Chromosome 1 and affects the gene TMEM63A (transmembrane protein 63A). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Leukodystrophy | TTTTAAAAAATAAATTTTGTTTTGAAAGTGTAAATACTGTAGATTTTTAAAACTACACAAGAAAGTATACAGGGAAAACTAAAACAACTTTTCCCCCTAAAACTCAGCTATCACTGCCAGCAGTCTCTTGGGTTTTTTGTTTCCTTCTAGAGCCTTTCATTAATCTGCCAGTTGCAGATGTTTTATTTCAGTGGCCAGGACCTTGGTCTTTAAACAGTCCTGAGTTCAAAGGCTGGTTCTCCTGCTTACTAACAACATACGAAGTTATTTTGTGTGAAGGGGGAATAGAAACAGGAACTGCCTTGTAGGATGAGGTGAGA... | TTTTAAAAAATAAATTTTGTTTTGAAAGTGTAAATACTGTAGATTTTTAAAACTACACAAGAAAGTATACAGGGAAAACTAAAACAACTTTTCCCCCTAAAACTCAGCTATCACTGCCAGCAGTCTCTTGGGTTTTTTGTTTCCTTCTAGAGCCTTTCATTAATCTGCCAGTTGCAGATGTTTTATTTCAGTGGCCAGGACCTTGGTCTTTAAACAGTCCTGAGTTCAAAGGCTGGTTCTCCTGCTTACTAACAACATACGAAGTTATTTTGTGTGAAGGGGGAATAGAAACAGGAACTGCCTTGTAGGATGAGGTGAGA... |
Task1_train_2757 | Located on Chromosome 1, this mutation impacts TMEM63A (transmembrane protein 63A). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Leukodystrophy, hypomyelinating, 19, transient infantile | AAAGTGTAAATACTGTAGATTTTTAAAACTACACAAGAAAGTATACAGGGAAAACTAAAACAACTTTTCCCCCTAAAACTCAGCTATCACTGCCAGCAGTCTCTTGGGTTTTTTGTTTCCTTCTAGAGCCTTTCATTAATCTGCCAGTTGCAGATGTTTTATTTCAGTGGCCAGGACCTTGGTCTTTAAACAGTCCTGAGTTCAAAGGCTGGTTCTCCTGCTTACTAACAACATACGAAGTTATTTTGTGTGAAGGGGGAATAGAAACAGGAACTGCCTTGTAGGATGAGGTGAGAAATGTGGTAATCCACGTGGAGGCA... | AAAGTGTAAATACTGTAGATTTTTAAAACTACACAAGAAAGTATACAGGGAAAACTAAAACAACTTTTCCCCCTAAAACTCAGCTATCACTGCCAGCAGTCTCTTGGGTTTTTTGTTTCCTTCTAGAGCCTTTCATTAATCTGCCAGTTGCAGATGTTTTATTTCAGTGGCCAGGACCTTGGTCTTTAAACAGTCCTGAGTTCAAAGGCTGGTTCTCCTGCTTACTAACAACATACGAAGTTATTTTGTGTGAAGGGGGAATAGAAACAGGAACTGCCTTGTAGGATGAGGTGAGAAATGTGGTAATCCACGTGGAGGCA... |
Task1_train_2758 | The variant affects gene TMEM63A (transmembrane protein 63A), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Leukodystrophy | GATAGATCATAAGATGAGGATTGAGCTGGTCACTGGACTTGTCAATCTGAAAGTCACTGTCAACCTAGACTATTGCTGGCTGTATGTATGTGTGTCTGTCACAGTCATCAGCTCCCAACTCATCAGCTTACTCAGCAAGAACTCATTTAAAATAACTCGCCCCATCCTTACAGGTAAGCACATTCTTTTAGGAAAGTCAATGCCAAGCCTCTGGACCTATATTAAGACCTAATGTATAGTCTGTAGGGGCTGGGGTTGAATCCCAGCTCTGTTCCTTAACCAGCTGGATAAACTTGGGCAAGTTATTCAACGTCTCCAAA... | GATAGATCATAAGATGAGGATTGAGCTGGTCACTGGACTTGTCAATCTGAAAGTCACTGTCAACCTAGACTATTGCTGGCTGTATGTATGTGTGTCTGTCACAGTCATCAGCTCCCAACTCATCAGCTTACTCAGCAAGAACTCATTTAAAATAACTCGCCCCATCCTTACAGGTAAGCACATTCTTTTAGGAAAGTCAATGCCAAGCCTCTGGACCTATATTAAGACCTAATGTATAGTCTGTAGGGGCTGGGGTTGAATCCCAGCTCTGTTCCTTAACCAGCTGGATAAACTTGGGCAAGTTATTCAACGTCTCCAAA... |
Task1_train_2759 | This alteration occurs within gene TMEM63A (transmembrane protein 63A) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Leukodystrophy | TCCTACGTGGAGGGGGCTCAGCTCCCCTCCCACCCCACCTGCTTACCGGAAGTGGCTCTCCACAGTCTCCTTCCTGGCATCTCTGGGGAGTCCTGTGATGAACAGGGTCCGCCTCACCTGTCCGGGAAATACAGCAGGGAGAGAAGTCACCCACAAGCCAGTGTGCCGGTATGCTCAGGTTTCCTACCCAACTCCAGCCTCTGGAAAGTAAACAACAGGAAATCAGAAGGCTCCAGTTTTCTCCTTCTGTGGCCGGGGGAGCCCCCAAAGCATGTCATTTACACAGCGTCTTCTTCCAGGCTGTACAAAGAATCCACTTC... | TCCTACGTGGAGGGGGCTCAGCTCCCCTCCCACCCCACCTGCTTACCGGAAGTGGCTCTCCACAGTCTCCTTCCTGGCATCTCTGGGGAGTCCTGTGATGAACAGGGTCCGCCTCACCTGTCCGGGAAATACAGCAGGGAGAGAAGTCACCCACAAGCCAGTGTGCCGGTATGCTCAGGTTTCCTACCCAACTCCAGCCTCTGGAAAGTAAACAACAGGAAATCAGAAGGCTCCAGTTTTCTCCTTCTGTGGCCGGGGGAGCCCCCAAAGCATGTCATTTACACAGCGTCTTCTTCCAGGCTGTACAAAGAATCCACTTC... |
Task1_train_2760 | Gene PYCR2 (pyrroline-5-carboxylate reductase 2), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Hypomyelinating leukodystrophy 10 | AGCACAAATGGGGTAAGTTGCTTATCCCTCTAGGCCTCCAGATGGTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGTTGGAGTACAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTTTTTTAATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGGCTCGGCCTCCCAAAGTGCTGG... | AGCACAAATGGGGTAAGTTGCTTATCCCTCTAGGCCTCCAGATGGTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGTTGGAGTACAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTTTTTTAATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGGCTCGGCCTCCCAAAGTGCTGG... |
Task1_train_2761 | This mutation is located in gene PYCR2 (pyrroline-5-carboxylate reductase 2) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hypomyelinating leukodystrophy 10 | TATCCCTCTAGGCCTCCAGATGGTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGTTGGAGTACAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTTTTTTAATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGGCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGC... | TATCCCTCTAGGCCTCCAGATGGTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGTTGGAGTACAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTTTTTTAATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGGCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGC... |
Task1_train_2762 | Gene PYCR2 (pyrroline-5-carboxylate reductase 2), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Hypomyelinating leukodystrophy 10 | TCTGTTGCCCAGGTTGGAGTACAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTTTTTTAATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGGCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTGGCCTCGACATCTATACGGTGAGAAAAGAACAGTTCTTCCTTCAGAGGG... | TCTGTTGCCCAGGTTGGAGTACAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTTTTTTAATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGGCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTGGCCTCGACATCTATACGGTGAGAAAAGAACAGTTCTTCCTTCAGAGGG... |
Task1_train_2763 | Gene H3-3A (H3.3 histone A), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | CCCAAACCCGGGCTTCGGGGGTTCGACGCCGTGCGCACACGGAGCGGGATGGGAGTGCAGGGCCGGGGGCGGGGGCTGGCCGGGTGCGGGCGGCAGTCTCGGCGGGAGCCGGCGGCCCCTCAGCGTGTCTTTTGTGTTTGTACACACACGGCGCGAGGCGGCCTGGAGGAGGGAGCGGGCGGCGCGCGGGGGAGGGGCGAGCGCGCGCCAGCGAACGGGCGCGCGGGGGGAAGGGCGGGGGCGGGGCGCGAGAGGAGCTATGGGGGCGGGGCCGAGCCTTCCCTCCATTGTGTGTGATTGGCTGGCGCGCGGCGCGGGGG... | CCCAAACCCGGGCTTCGGGGGTTCGACGCCGTGCGCACACGGAGCGGGATGGGAGTGCAGGGCCGGGGGCGGGGGCTGGCCGGGTGCGGGCGGCAGTCTCGGCGGGAGCCGGCGGCCCCTCAGCGTGTCTTTTGTGTTTGTACACACACGGCGCGAGGCGGCCTGGAGGAGGGAGCGGGCGGCGCGCGGGGGAGGGGCGAGCGCGCGCCAGCGAACGGGCGCGCGGGGGGAAGGGCGGGGGCGGGGCGCGAGAGGAGCTATGGGGGCGGGGCCGAGCCTTCCCTCCATTGTGTGTGATTGGCTGGCGCGCGGCGCGGGGG... |
Task1_train_2764 | Here is a genetic alteration in H3-3A (H3.3 histone A) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Bryant-Li-Bhoj neurodevelopmental syndrome 1 | ATAAGACTGTTTTCTCCCTTAATATATCTTCAGCAGAGAAATAACTTTTCCTTATAGAAAAGGAGAGAGAGCCAACTAACCTATCATTTCATGCTCCAGATCCAAAACTGTTGGATTTATGATTATTTTTTAAAATGGTAATTTCTCCATTTCAAAATGAGTAAGCAGGCCGGGCATGGCGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAAGTTAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGACGTGATGGTGCA... | ATAAGACTGTTTTCTCCCTTAATATATCTTCAGCAGAGAAATAACTTTTCCTTATAGAAAAGGAGAGAGAGCCAACTAACCTATCATTTCATGCTCCAGATCCAAAACTGTTGGATTTATGATTATTTTTTAAAATGGTAATTTCTCCATTTCAAAATGAGTAAGCAGGCCGGGCATGGCGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAAGTTAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGACGTGATGGTGCA... |
Task1_train_2765 | A genetic alteration is present in ITPKB (inositol-trisphosphate 3-kinase B) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not specified | TGAAGAGTATTTGATATTCAAGATGAAATCGGAAGGCTACCTACTATAATAAAATGCAGACTTTCCCCCAATATAGCACAACCACCCCTGGCACACTGAACTAGGAAATTCCCCATGCTCTCTGGAAAAGCTAAGAGAAAGCCCAGACCTTTTCAGAAGTGCTAGCTTCAACTCCTATGTCTTCTGTAAGATACTCTGATCCTCCTAAGAGTAAAAGCAGCCTACAAGTTCGATTAACCATGTAATAGAAATAAACTCCTGTCTACTGCCATAACCAGAACAAGATGTCAGTGTGATGACCCAAACCAGAGGCACGTGAA... | TGAAGAGTATTTGATATTCAAGATGAAATCGGAAGGCTACCTACTATAATAAAATGCAGACTTTCCCCCAATATAGCACAACCACCCCTGGCACACTGAACTAGGAAATTCCCCATGCTCTCTGGAAAAGCTAAGAGAAAGCCCAGACCTTTTCAGAAGTGCTAGCTTCAACTCCTATGTCTTCTGTAAGATACTCTGATCCTCCTAAGAGTAAAAGCAGCCTACAAGTTCGATTAACCATGTAATAGAAATAAACTCCTGTCTACTGCCATAACCAGAACAAGATGTCAGTGTGATGACCCAAACCAGAGGCACGTGAA... |
Task1_train_2766 | Gene ITPKB (inositol-trisphosphate 3-kinase B), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Myeloproliferative neoplasm, unclassifiable | TGAAGAGTATTTGATATTCAAGATGAAATCGGAAGGCTACCTACTATAATAAAATGCAGACTTTCCCCCAATATAGCACAACCACCCCTGGCACACTGAACTAGGAAATTCCCCATGCTCTCTGGAAAAGCTAAGAGAAAGCCCAGACCTTTTCAGAAGTGCTAGCTTCAACTCCTATGTCTTCTGTAAGATACTCTGATCCTCCTAAGAGTAAAAGCAGCCTACAAGTTCGATTAACCATGTAATAGAAATAAACTCCTGTCTACTGCCATAACCAGAACAAGATGTCAGTGTGATGACCCAAACCAGAGGCACGTGAA... | TGAAGAGTATTTGATATTCAAGATGAAATCGGAAGGCTACCTACTATAATAAAATGCAGACTTTCCCCCAATATAGCACAACCACCCCTGGCACACTGAACTAGGAAATTCCCCATGCTCTCTGGAAAAGCTAAGAGAAAGCCCAGACCTTTTCAGAAGTGCTAGCTTCAACTCCTATGTCTTCTGTAAGATACTCTGATCCTCCTAAGAGTAAAAGCAGCCTACAAGTTCGATTAACCATGTAATAGAAATAAACTCCTGTCTACTGCCATAACCAGAACAAGATGTCAGTGTGATGACCCAAACCAGAGGCACGTGAA... |
Task1_train_2767 | This variant lies on Chromosome 1 and affects the gene PSEN2 (presenilin 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Alzheimer disease 4 | AAGCTTTTGGGGCAGGACTTGTGTCCAAGTCTCCAGGTCGCCTCCAGCCACCCCCTGAGTCCTCCACTGCCTTTGTCTCACAGGAAAGTGGAACAAGGTCCTTGTGCTCCTTTTTCCAGGTGCTTCCAGAGGCAGGGCTATGCTCACATTCATGGCCTCTGACAGCGAGGAAGAAGTGTGTGATGAGCGGACGTCCCTAATGTCGGCTGAGAGCCCCACGCCGCGCTCCTGCCAGGAGGGCAGGCAGGGCCCAGAGGATGGAGAGAACACTGCCCAGTGGGTAGGTCCCACCAGCAGCTGGGGGCCTTCAAACAGGTCCC... | AAGCTTTTGGGGCAGGACTTGTGTCCAAGTCTCCAGGTCGCCTCCAGCCACCCCCTGAGTCCTCCACTGCCTTTGTCTCACAGGAAAGTGGAACAAGGTCCTTGTGCTCCTTTTTCCAGGTGCTTCCAGAGGCAGGGCTATGCTCACATTCATGGCCTCTGACAGCGAGGAAGAAGTGTGTGATGAGCGGACGTCCCTAATGTCGGCTGAGAGCCCCACGCCGCGCTCCTGCCAGGAGGGCAGGCAGGGCCCAGAGGATGGAGAGAACACTGCCCAGTGGGTAGGTCCCACCAGCAGCTGGGGGCCTTCAAACAGGTCCC... |
Task1_train_2768 | This variant affects the gene PSEN2 (presenilin 2) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Alzheimer disease 4 | CCTTCATTTATGGTGCTTCATCCAGCTCCAAATCTTCTCTACTTTGTCCTCACAAACTTTTCATATGCCCTAGTAGCTCATAGACTGCTCCTTATATCTGGAAAGCAACATTCAAACTTCTCATTTCTGGTTCCAAAAATCCGTGCATTACATGGATAGGCTGCCGTGGGGGACATTCTGCGGCCCTCACGATGTGGTTTCCCACAGAGAAGCCAGGAGAACGAGGAGGACGGTGAGGAGGACCCTGACCGCTATGTCTGTAGTGGGGTTCCCGGGCGGCCGCCAGGCCTGGAGGAAGAGCTGACCCTCAAATACGGAGC... | CCTTCATTTATGGTGCTTCATCCAGCTCCAAATCTTCTCTACTTTGTCCTCACAAACTTTTCATATGCCCTAGTAGCTCATAGACTGCTCCTTATATCTGGAAAGCAACATTCAAACTTCTCATTTCTGGTTCCAAAAATCCGTGCATTACATGGATAGGCTGCCGTGGGGGACATTCTGCGGCCCTCACGATGTGGTTTCCCACAGAGAAGCCAGGAGAACGAGGAGGACGGTGAGGAGGACCCTGACCGCTATGTCTGTAGTGGGGTTCCCGGGCGGCCGCCAGGCCTGGAGGAAGAGCTGACCCTCAAATACGGAGC... |
Task1_train_2769 | A variant was discovered in gene PSEN2 (presenilin 2), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Alzheimer disease 4 | TTTTCATATGCCCTAGTAGCTCATAGACTGCTCCTTATATCTGGAAAGCAACATTCAAACTTCTCATTTCTGGTTCCAAAAATCCGTGCATTACATGGATAGGCTGCCGTGGGGGACATTCTGCGGCCCTCACGATGTGGTTTCCCACAGAGAAGCCAGGAGAACGAGGAGGACGGTGAGGAGGACCCTGACCGCTATGTCTGTAGTGGGGTTCCCGGGCGGCCGCCAGGCCTGGAGGAAGAGCTGACCCTCAAATACGGAGCGAAGCACGTGATCATGCTGTTTGTGCCTGTCACTCTGTGCATGATCGTGGTGGTAGC... | TTTTCATATGCCCTAGTAGCTCATAGACTGCTCCTTATATCTGGAAAGCAACATTCAAACTTCTCATTTCTGGTTCCAAAAATCCGTGCATTACATGGATAGGCTGCCGTGGGGGACATTCTGCGGCCCTCACGATGTGGTTTCCCACAGAGAAGCCAGGAGAACGAGGAGGACGGTGAGGAGGACCCTGACCGCTATGTCTGTAGTGGGGTTCCCGGGCGGCCGCCAGGCCTGGAGGAAGAGCTGACCCTCAAATACGGAGCGAAGCACGTGATCATGCTGTTTGTGCCTGTCACTCTGTGCATGATCGTGGTGGTAGC... |
Task1_train_2770 | A genomic change on Chromosome 1 affects PSEN2 (presenilin 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Alzheimer disease 4 | TCTCTAAAAAAATAATAATAAAATAAGTAACAATTACCTGTGTAACTGTGACGAGGCAGGGTTTGAACATTGCCGCTGGGAGGTTGGCAGATGGTGGGAAGCAGGGTGGAGGGCTGCTGGTTTGGAGCAGAGGATACAGATTGCATGGGGTCAAGCTAGAAATTGCGTGGCAGATGTGAAGAGCTGGCCCCACTGCGGGCAGTAGGTGTCTGGTGGCCAGTCCCAGAGGCTGTGAAGAGGGGCTCAGCCATCTGTCTAGTAGGGCTTCCTTGGAGGTTCCACGATACAGGCAGATGGTGGTGGCCCGGGCAGCCAGGTGG... | TCTCTAAAAAAATAATAATAAAATAAGTAACAATTACCTGTGTAACTGTGACGAGGCAGGGTTTGAACATTGCCGCTGGGAGGTTGGCAGATGGTGGGAAGCAGGGTGGAGGGCTGCTGGTTTGGAGCAGAGGATACAGATTGCATGGGGTCAAGCTAGAAATTGCGTGGCAGATGTGAAGAGCTGGCCCCACTGCGGGCAGTAGGTGTCTGGTGGCCAGTCCCAGAGGCTGTGAAGAGGGGCTCAGCCATCTGTCTAGTAGGGCTTCCTTGGAGGTTCCACGATACAGGCAGATGGTGGTGGCCCGGGCAGCCAGGTGG... |
Task1_train_2771 | Assess the clinical impact of this variant on gene PSEN2 (presenilin 2), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Alzheimer disease 4 | TCTAAAAAAATAATAATAAAATAAGTAACAATTACCTGTGTAACTGTGACGAGGCAGGGTTTGAACATTGCCGCTGGGAGGTTGGCAGATGGTGGGAAGCAGGGTGGAGGGCTGCTGGTTTGGAGCAGAGGATACAGATTGCATGGGGTCAAGCTAGAAATTGCGTGGCAGATGTGAAGAGCTGGCCCCACTGCGGGCAGTAGGTGTCTGGTGGCCAGTCCCAGAGGCTGTGAAGAGGGGCTCAGCCATCTGTCTAGTAGGGCTTCCTTGGAGGTTCCACGATACAGGCAGATGGTGGTGGCCCGGGCAGCCAGGTGGTG... | TCTAAAAAAATAATAATAAAATAAGTAACAATTACCTGTGTAACTGTGACGAGGCAGGGTTTGAACATTGCCGCTGGGAGGTTGGCAGATGGTGGGAAGCAGGGTGGAGGGCTGCTGGTTTGGAGCAGAGGATACAGATTGCATGGGGTCAAGCTAGAAATTGCGTGGCAGATGTGAAGAGCTGGCCCCACTGCGGGCAGTAGGTGTCTGGTGGCCAGTCCCAGAGGCTGTGAAGAGGGGCTCAGCCATCTGTCTAGTAGGGCTTCCTTGGAGGTTCCACGATACAGGCAGATGGTGGTGGCCCGGGCAGCCAGGTGGTG... |
Task1_train_2772 | A change on Chromosome 1 affects gene COQ8A (coenzyme Q8A). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Autosomal recessive ataxia due to ubiquinone deficiency | ACCCGAGGCTTAGGCTGGAGTGGGGTGGCCCTGGGCAGCCCCAAACTGTGCTCCAGCTTCCTGACCAGGCCCTGGCACCCTCTGGACTGGAGGACACCGGCCACCCTGGCTGAGCTCTGCCCTGGAAGGACCTTTCCTGAGCTGGGGGCACACTGCCGTAGCCCTGGGCCCATCCCCACTTGCCAGGTCATTCTCACAGCCAGCCCTGCCTGGGTGGGGGACATACCTCCAGCCTGTGGCATTGACCAGCTTTGCCAATGGGCTACCTGGGAAAGCCCGGATTGGGCCAGGCACCGTTCCCATCTCTCAGGAGTGCTGCT... | ACCCGAGGCTTAGGCTGGAGTGGGGTGGCCCTGGGCAGCCCCAAACTGTGCTCCAGCTTCCTGACCAGGCCCTGGCACCCTCTGGACTGGAGGACACCGGCCACCCTGGCTGAGCTCTGCCCTGGAAGGACCTTTCCTGAGCTGGGGGCACACTGCCGTAGCCCTGGGCCCATCCCCACTTGCCAGGTCATTCTCACAGCCAGCCCTGCCTGGGTGGGGGACATACCTCCAGCCTGTGGCATTGACCAGCTTTGCCAATGGGCTACCTGGGAAAGCCCGGATTGGGCCAGGCACCGTTCCCATCTCTCAGGAGTGCTGCT... |
Task1_train_2773 | This sequence change occurs on Chromosome 1, altering COQ8A (coenzyme Q8A). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Autosomal recessive ataxia due to ubiquinone deficiency | CCCGAGGCTTAGGCTGGAGTGGGGTGGCCCTGGGCAGCCCCAAACTGTGCTCCAGCTTCCTGACCAGGCCCTGGCACCCTCTGGACTGGAGGACACCGGCCACCCTGGCTGAGCTCTGCCCTGGAAGGACCTTTCCTGAGCTGGGGGCACACTGCCGTAGCCCTGGGCCCATCCCCACTTGCCAGGTCATTCTCACAGCCAGCCCTGCCTGGGTGGGGGACATACCTCCAGCCTGTGGCATTGACCAGCTTTGCCAATGGGCTACCTGGGAAAGCCCGGATTGGGCCAGGCACCGTTCCCATCTCTCAGGAGTGCTGCTG... | CCCGAGGCTTAGGCTGGAGTGGGGTGGCCCTGGGCAGCCCCAAACTGTGCTCCAGCTTCCTGACCAGGCCCTGGCACCCTCTGGACTGGAGGACACCGGCCACCCTGGCTGAGCTCTGCCCTGGAAGGACCTTTCCTGAGCTGGGGGCACACTGCCGTAGCCCTGGGCCCATCCCCACTTGCCAGGTCATTCTCACAGCCAGCCCTGCCTGGGTGGGGGACATACCTCCAGCCTGTGGCATTGACCAGCTTTGCCAATGGGCTACCTGGGAAAGCCCGGATTGGGCCAGGCACCGTTCCCATCTCTCAGGAGTGCTGCTG... |
Task1_train_2774 | An alteration has been detected in COQ8A (coenzyme Q8A) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | CCCGAGGCTTAGGCTGGAGTGGGGTGGCCCTGGGCAGCCCCAAACTGTGCTCCAGCTTCCTGACCAGGCCCTGGCACCCTCTGGACTGGAGGACACCGGCCACCCTGGCTGAGCTCTGCCCTGGAAGGACCTTTCCTGAGCTGGGGGCACACTGCCGTAGCCCTGGGCCCATCCCCACTTGCCAGGTCATTCTCACAGCCAGCCCTGCCTGGGTGGGGGACATACCTCCAGCCTGTGGCATTGACCAGCTTTGCCAATGGGCTACCTGGGAAAGCCCGGATTGGGCCAGGCACCGTTCCCATCTCTCAGGAGTGCTGCTG... | CCCGAGGCTTAGGCTGGAGTGGGGTGGCCCTGGGCAGCCCCAAACTGTGCTCCAGCTTCCTGACCAGGCCCTGGCACCCTCTGGACTGGAGGACACCGGCCACCCTGGCTGAGCTCTGCCCTGGAAGGACCTTTCCTGAGCTGGGGGCACACTGCCGTAGCCCTGGGCCCATCCCCACTTGCCAGGTCATTCTCACAGCCAGCCCTGCCTGGGTGGGGGACATACCTCCAGCCTGTGGCATTGACCAGCTTTGCCAATGGGCTACCTGGGAAAGCCCGGATTGGGCCAGGCACCGTTCCCATCTCTCAGGAGTGCTGCTG... |
Task1_train_2775 | Here is a variant affecting COQ8A (coenzyme Q8A) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | GTGGCCCAGGCAGGGCATGCTCAGAGCCCCTCCCTGGCCCTGCCCTTCAGAAAACTCTCAACAACGACCTGGGCCCCAACTGGCGGGACAAGTTGGAATACTTCGAGGAGCGGCCCTTCGCCGCCGCATCCATTGGGCAGGTGCACTTGGCCCGAATGAAGGGCGGCCGCGAGGTGGCCATGAAGATCCAGGTAGGCGGCCTGATGCGCAGTGCCTGTCCCTATGGGGGCTGCAAGGGGCAGAGCTGGGGCCTGGCTCATGGAGGCCTCTACACCCCACGTCCCGCAGGGCACCCTCTCTCCTGGCAGGGCCATATGTGG... | GTGGCCCAGGCAGGGCATGCTCAGAGCCCCTCCCTGGCCCTGCCCTTCAGAAAACTCTCAACAACGACCTGGGCCCCAACTGGCGGGACAAGTTGGAATACTTCGAGGAGCGGCCCTTCGCCGCCGCATCCATTGGGCAGGTGCACTTGGCCCGAATGAAGGGCGGCCGCGAGGTGGCCATGAAGATCCAGGTAGGCGGCCTGATGCGCAGTGCCTGTCCCTATGGGGGCTGCAAGGGGCAGAGCTGGGGCCTGGCTCATGGAGGCCTCTACACCCCACGTCCCGCAGGGCACCCTCTCTCCTGGCAGGGCCATATGTGG... |
Task1_train_2776 | Given this context: Chromosome 1, gene COQ8A (coenzyme Q8A) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Autosomal recessive ataxia due to ubiquinone deficiency | GCTCAGAGCCCCTCCCTGGCCCTGCCCTTCAGAAAACTCTCAACAACGACCTGGGCCCCAACTGGCGGGACAAGTTGGAATACTTCGAGGAGCGGCCCTTCGCCGCCGCATCCATTGGGCAGGTGCACTTGGCCCGAATGAAGGGCGGCCGCGAGGTGGCCATGAAGATCCAGGTAGGCGGCCTGATGCGCAGTGCCTGTCCCTATGGGGGCTGCAAGGGGCAGAGCTGGGGCCTGGCTCATGGAGGCCTCTACACCCCACGTCCCGCAGGGCACCCTCTCTCCTGGCAGGGCCATATGTGGTGTCTTCTGGCCCCAGTG... | GCTCAGAGCCCCTCCCTGGCCCTGCCCTTCAGAAAACTCTCAACAACGACCTGGGCCCCAACTGGCGGGACAAGTTGGAATACTTCGAGGAGCGGCCCTTCGCCGCCGCATCCATTGGGCAGGTGCACTTGGCCCGAATGAAGGGCGGCCGCGAGGTGGCCATGAAGATCCAGGTAGGCGGCCTGATGCGCAGTGCCTGTCCCTATGGGGGCTGCAAGGGGCAGAGCTGGGGCCTGGCTCATGGAGGCCTCTACACCCCACGTCCCGCAGGGCACCCTCTCTCCTGGCAGGGCCATATGTGGTGTCTTCTGGCCCCAGTG... |
Task1_train_2777 | Here’s a variant in COQ8A (coenzyme Q8A) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Autosomal recessive ataxia due to ubiquinone deficiency | CGAGTTCCACTTCATGCAAACAGACCCCAACTGGTCCAACTTCTTCTATGACCCCCAGCAGCACAAGGTGAGCCCCAGGGTGGGGGCACCCGCAGCCAGGCCTGAGAGCTTCTCCGAATGGGGCACGTGAGGCCCTGGACTGCCCCTTGTCCTGGGAAAGTCAGCAGAGAGCTCAGGGCTCTGGGAGTGGGGATCCTCACTGCCCTCTGTTGCACCCCCTTCCCGGCCCCACACACCCGCACCATGGAGCACCAGGGCCAAACTTCTCCTGGTGTCTCTGTCCCCAGGTGGCTCTTTTGGATTTTGGGGCAACGCGGGAA... | CGAGTTCCACTTCATGCAAACAGACCCCAACTGGTCCAACTTCTTCTATGACCCCCAGCAGCACAAGGTGAGCCCCAGGGTGGGGGCACCCGCAGCCAGGCCTGAGAGCTTCTCCGAATGGGGCACGTGAGGCCCTGGACTGCCCCTTGTCCTGGGAAAGTCAGCAGAGAGCTCAGGGCTCTGGGAGTGGGGATCCTCACTGCCCTCTGTTGCACCCCCTTCCCGGCCCCACACACCCGCACCATGGAGCACCAGGGCCAAACTTCTCCTGGTGTCTCTGTCCCCAGGTGGCTCTTTTGGATTTTGGGGCAACGCGGGAA... |
Task1_train_2778 | Gene ARF1, LOC126806039 (ARF GTPase 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:228284937-228286136) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Periventricular nodular heterotopia 8 | AAATAGTATTCTGTCTTCAGTCTCCTGTCTTGGTTGCCTCCTTGCAGATTCCTTTTATATTTGGGTCTCTTATGTTGGTGGCCTTTCAAAGGCAGACAGGCCTGTCTCTTGGTGGGGGGTGGGGGTGGGCGGAGCTCCAGTTGCTTGTGTGTGGATCTGCTGGGGCATATAGAACTCTCAGGAATTATTCTGGAATTTCATGGCTCAAGTGTGTTGTCATGGCTCAGCGCAGGCCTAAGCCCTGCTGCAGCTGCTCCCCTAGACCAAGCTTGTCCAACCCTTAGGCCGCATGTGGCCCAGGATGGCTTTGAACCCGACCC... | AAATAGTATTCTGTCTTCAGTCTCCTGTCTTGGTTGCCTCCTTGCAGATTCCTTTTATATTTGGGTCTCTTATGTTGGTGGCCTTTCAAAGGCAGACAGGCCTGTCTCTTGGTGGGGGGTGGGGGTGGGCGGAGCTCCAGTTGCTTGTGTGTGGATCTGCTGGGGCATATAGAACTCTCAGGAATTATTCTGGAATTTCATGGCTCAAGTGTGTTGTCATGGCTCAGCGCAGGCCTAAGCCCTGCTGCAGCTGCTCCCCTAGACCAAGCTTGTCCAACCCTTAGGCCGCATGTGGCCCAGGATGGCTTTGAACCCGACCC... |
Task1_train_2779 | This is a variant in ARF1, LOC126806039 (ARF GTPase 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:228284937-228286136), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Periventricular nodular heterotopia 8 | AAATAGTATTCTGTCTTCAGTCTCCTGTCTTGGTTGCCTCCTTGCAGATTCCTTTTATATTTGGGTCTCTTATGTTGGTGGCCTTTCAAAGGCAGACAGGCCTGTCTCTTGGTGGGGGGTGGGGGTGGGCGGAGCTCCAGTTGCTTGTGTGTGGATCTGCTGGGGCATATAGAACTCTCAGGAATTATTCTGGAATTTCATGGCTCAAGTGTGTTGTCATGGCTCAGCGCAGGCCTAAGCCCTGCTGCAGCTGCTCCCCTAGACCAAGCTTGTCCAACCCTTAGGCCGCATGTGGCCCAGGATGGCTTTGAACCCGACCC... | AAATAGTATTCTGTCTTCAGTCTCCTGTCTTGGTTGCCTCCTTGCAGATTCCTTTTATATTTGGGTCTCTTATGTTGGTGGCCTTTCAAAGGCAGACAGGCCTGTCTCTTGGTGGGGGGTGGGGGTGGGCGGAGCTCCAGTTGCTTGTGTGTGGATCTGCTGGGGCATATAGAACTCTCAGGAATTATTCTGGAATTTCATGGCTCAAGTGTGTTGTCATGGCTCAGCGCAGGCCTAAGCCCTGCTGCAGCTGCTCCCCTAGACCAAGCTTGTCCAACCCTTAGGCCGCATGTGGCCCAGGATGGCTTTGAACCCGACCC... |
Task1_train_2780 | The gene ARF1, LOC126806039 (ARF GTPase 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:228284937-228286136) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Periventricular nodular heterotopia 8 | GGCGGAGCTCCAGTTGCTTGTGTGTGGATCTGCTGGGGCATATAGAACTCTCAGGAATTATTCTGGAATTTCATGGCTCAAGTGTGTTGTCATGGCTCAGCGCAGGCCTAAGCCCTGCTGCAGCTGCTCCCCTAGACCAAGCTTGTCCAACCCTTAGGCCGCATGTGGCCCAGGATGGCTTTGAACCCGACCCAACACAAATTTCTAATAAAACATTGAGATTTTGGGGGTTTTTGTTTTGGTTTGGTTCACCAGCTGTTGTGTTAGTATATTTTGTGTGTGGTCCAAGACAATTCTTCTTCCATTGTGGCCCAGGGTAG... | GGCGGAGCTCCAGTTGCTTGTGTGTGGATCTGCTGGGGCATATAGAACTCTCAGGAATTATTCTGGAATTTCATGGCTCAAGTGTGTTGTCATGGCTCAGCGCAGGCCTAAGCCCTGCTGCAGCTGCTCCCCTAGACCAAGCTTGTCCAACCCTTAGGCCGCATGTGGCCCAGGATGGCTTTGAACCCGACCCAACACAAATTTCTAATAAAACATTGAGATTTTGGGGGTTTTTGTTTTGGTTTGGTTCACCAGCTGTTGTGTTAGTATATTTTGTGTGTGGTCCAAGACAATTCTTCTTCCATTGTGGCCCAGGGTAG... |
Task1_train_2781 | Here is a variant affecting ARF1, LOC126806039 (ARF GTPase 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:228284937-228286136) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Periventricular nodular heterotopia 8 | CGGAGCTCCAGTTGCTTGTGTGTGGATCTGCTGGGGCATATAGAACTCTCAGGAATTATTCTGGAATTTCATGGCTCAAGTGTGTTGTCATGGCTCAGCGCAGGCCTAAGCCCTGCTGCAGCTGCTCCCCTAGACCAAGCTTGTCCAACCCTTAGGCCGCATGTGGCCCAGGATGGCTTTGAACCCGACCCAACACAAATTTCTAATAAAACATTGAGATTTTGGGGGTTTTTGTTTTGGTTTGGTTCACCAGCTGTTGTGTTAGTATATTTTGTGTGTGGTCCAAGACAATTCTTCTTCCATTGTGGCCCAGGGTAGCC... | CGGAGCTCCAGTTGCTTGTGTGTGGATCTGCTGGGGCATATAGAACTCTCAGGAATTATTCTGGAATTTCATGGCTCAAGTGTGTTGTCATGGCTCAGCGCAGGCCTAAGCCCTGCTGCAGCTGCTCCCCTAGACCAAGCTTGTCCAACCCTTAGGCCGCATGTGGCCCAGGATGGCTTTGAACCCGACCCAACACAAATTTCTAATAAAACATTGAGATTTTGGGGGTTTTTGTTTTGGTTTGGTTCACCAGCTGTTGTGTTAGTATATTTTGTGTGTGGTCCAAGACAATTCTTCTTCCATTGTGGCCCAGGGTAGCC... |
Task1_train_2782 | This sequence variant lies in ARF1, LOC126806039 (ARF GTPase 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:228284937-228286136) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Periventricular nodular heterotopia 8 | GGGTCCCAGGCGGTCCAGTTTTCTCTGCCTGGTCAATCATCACATCCAAGGTCTTCCTCCCTTTTCTCTCTGCCCTTCAAGGCGTGTGTGTCATTTTGGTGTCTTCATTGGTAGTGGTTGCAGGAGTGGACTGAGAGGGCAGGTATTCAGTCTCTTCTGTGCTCCATGGGTGGTGGTCTTCCTCTGGGCTTAGAAAACCTGGCCGTCCCCAAAAAGGGAACACTACAGTGAAGGTCCTTATAAATTTCAGAACTCATTTAAATTTCAGAATAGGTGACATGTTCAAAACCAAGAGCAAAGTGTCCAAAGGACACTGATCC... | GGGTCCCAGGCGGTCCAGTTTTCTCTGCCTGGTCAATCATCACATCCAAGGTCTTCCTCCCTTTTCTCTCTGCCCTTCAAGGCGTGTGTGTCATTTTGGTGTCTTCATTGGTAGTGGTTGCAGGAGTGGACTGAGAGGGCAGGTATTCAGTCTCTTCTGTGCTCCATGGGTGGTGGTCTTCCTCTGGGCTTAGAAAACCTGGCCGTCCCCAAAAAGGGAACACTACAGTGAAGGTCCTTATAAATTTCAGAACTCATTTAAATTTCAGAATAGGTGACATGTTCAAAACCAAGAGCAAAGTGTCCAAAGGACACTGATCC... |
Task1_train_2783 | This variant affects gene ARF1, LOC126806039 (ARF GTPase 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:228284937-228286136) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Periventricular nodular heterotopia 8 | GTCTCTTCTGTGCTCCATGGGTGGTGGTCTTCCTCTGGGCTTAGAAAACCTGGCCGTCCCCAAAAAGGGAACACTACAGTGAAGGTCCTTATAAATTTCAGAACTCATTTAAATTTCAGAATAGGTGACATGTTCAAAACCAAGAGCAAAGTGTCCAAAGGACACTGATCCAGCTTGAAGGGGTTCTGTGGCTCATCTGGGATGATGGCAGTGTTAAATCAGACACGGGCGGCCAGTTCACACCCACTGAAACACACAGGCATGTGTGGGCTCTTGCTGATGTTGAGAAATGGAGAAGAGGCATTTCCTTGCCGTAGCGT... | GTCTCTTCTGTGCTCCATGGGTGGTGGTCTTCCTCTGGGCTTAGAAAACCTGGCCGTCCCCAAAAAGGGAACACTACAGTGAAGGTCCTTATAAATTTCAGAACTCATTTAAATTTCAGAATAGGTGACATGTTCAAAACCAAGAGCAAAGTGTCCAAAGGACACTGATCCAGCTTGAAGGGGTTCTGTGGCTCATCTGGGATGATGGCAGTGTTAAATCAGACACGGGCGGCCAGTTCACACCCACTGAAACACACAGGCATGTGTGGGCTCTTGCTGATGTTGAGAAATGGAGAAGAGGCATTTCCTTGCCGTAGCGT... |
Task1_train_2784 | The gene ARF1, LOC126806039 (ARF GTPase 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:228284937-228286136) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Periventricular nodular heterotopia 8 | GTCTCTTCTGTGCTCCATGGGTGGTGGTCTTCCTCTGGGCTTAGAAAACCTGGCCGTCCCCAAAAAGGGAACACTACAGTGAAGGTCCTTATAAATTTCAGAACTCATTTAAATTTCAGAATAGGTGACATGTTCAAAACCAAGAGCAAAGTGTCCAAAGGACACTGATCCAGCTTGAAGGGGTTCTGTGGCTCATCTGGGATGATGGCAGTGTTAAATCAGACACGGGCGGCCAGTTCACACCCACTGAAACACACAGGCATGTGTGGGCTCTTGCTGATGTTGAGAAATGGAGAAGAGGCATTTCCTTGCCGTAGCGT... | GTCTCTTCTGTGCTCCATGGGTGGTGGTCTTCCTCTGGGCTTAGAAAACCTGGCCGTCCCCAAAAAGGGAACACTACAGTGAAGGTCCTTATAAATTTCAGAACTCATTTAAATTTCAGAATAGGTGACATGTTCAAAACCAAGAGCAAAGTGTCCAAAGGACACTGATCCAGCTTGAAGGGGTTCTGTGGCTCATCTGGGATGATGGCAGTGTTAAATCAGACACGGGCGGCCAGTTCACACCCACTGAAACACACAGGCATGTGTGGGCTCTTGCTGATGTTGAGAAATGGAGAAGAGGCATTTCCTTGCCGTAGCGT... |
Task1_train_2785 | A genetic alteration is present in GJC2 (gap junction protein gamma 2) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hereditary spastic paraplegia 44 | GCCACTCCGCAGTCAGCCACAACGGGAATGCTCACACCATGGGCACTGGCAGGCGCCATTACTGCAGGCTGCCCCCAGAGAGCCATTTGTTCAATATTGCCCCCACACAGCTGGGCAGGCTGGCCCTGGCACTGAAGGCCTCCTGCCCCATCTCTCCCTTGAGCCTGCTCTGTCTCAGGTTCCTGTCGGGCTGGAATCAGTGGGCCTTAGCCTGCTGTGATGGGTCAGGTGGGGAGGGAGGTGGGCCCTGCCTACTGGAGCCAGGGAGATAGGGGAGGTGGCCTCAGGGCTGGAGTGTGCCCGCCTGTGCATGTGTGTGC... | GCCACTCCGCAGTCAGCCACAACGGGAATGCTCACACCATGGGCACTGGCAGGCGCCATTACTGCAGGCTGCCCCCAGAGAGCCATTTGTTCAATATTGCCCCCACACAGCTGGGCAGGCTGGCCCTGGCACTGAAGGCCTCCTGCCCCATCTCTCCCTTGAGCCTGCTCTGTCTCAGGTTCCTGTCGGGCTGGAATCAGTGGGCCTTAGCCTGCTGTGATGGGTCAGGTGGGGAGGGAGGTGGGCCCTGCCTACTGGAGCCAGGGAGATAGGGGAGGTGGCCTCAGGGCTGGAGTGTGCCCGCCTGTGCATGTGTGTGC... |
Task1_train_2786 | A variant was discovered in gene GJC2 (gap junction protein gamma 2), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Lymphatic malformation 3 | ACCATGGGCACTGGCAGGCGCCATTACTGCAGGCTGCCCCCAGAGAGCCATTTGTTCAATATTGCCCCCACACAGCTGGGCAGGCTGGCCCTGGCACTGAAGGCCTCCTGCCCCATCTCTCCCTTGAGCCTGCTCTGTCTCAGGTTCCTGTCGGGCTGGAATCAGTGGGCCTTAGCCTGCTGTGATGGGTCAGGTGGGGAGGGAGGTGGGCCCTGCCTACTGGAGCCAGGGAGATAGGGGAGGTGGCCTCAGGGCTGGAGTGTGCCCGCCTGTGCATGTGTGTGCCTGATCACACGTGTGTGTGTGTGCACGGGTCTGTG... | ACCATGGGCACTGGCAGGCGCCATTACTGCAGGCTGCCCCCAGAGAGCCATTTGTTCAATATTGCCCCCACACAGCTGGGCAGGCTGGCCCTGGCACTGAAGGCCTCCTGCCCCATCTCTCCCTTGAGCCTGCTCTGTCTCAGGTTCCTGTCGGGCTGGAATCAGTGGGCCTTAGCCTGCTGTGATGGGTCAGGTGGGGAGGGAGGTGGGCCCTGCCTACTGGAGCCAGGGAGATAGGGGAGGTGGCCTCAGGGCTGGAGTGTGCCCGCCTGTGCATGTGTGTGCCTGATCACACGTGTGTGTGTGTGCACGGGTCTGTG... |
Task1_train_2787 | Gene GJC2 (gap junction protein gamma 2) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hypomyelinating leukodystrophy 2 | ATTGCCCCCACACAGCTGGGCAGGCTGGCCCTGGCACTGAAGGCCTCCTGCCCCATCTCTCCCTTGAGCCTGCTCTGTCTCAGGTTCCTGTCGGGCTGGAATCAGTGGGCCTTAGCCTGCTGTGATGGGTCAGGTGGGGAGGGAGGTGGGCCCTGCCTACTGGAGCCAGGGAGATAGGGGAGGTGGCCTCAGGGCTGGAGTGTGCCCGCCTGTGCATGTGTGTGCCTGATCACACGTGTGTGTGTGTGCACGGGTCTGTGTGCATGTGTGTGCATATATGTGTATGTGGTTGTGCATACGTATGTGCATGTGTGTGCATA... | ATTGCCCCCACACAGCTGGGCAGGCTGGCCCTGGCACTGAAGGCCTCCTGCCCCATCTCTCCCTTGAGCCTGCTCTGTCTCAGGTTCCTGTCGGGCTGGAATCAGTGGGCCTTAGCCTGCTGTGATGGGTCAGGTGGGGAGGGAGGTGGGCCCTGCCTACTGGAGCCAGGGAGATAGGGGAGGTGGCCTCAGGGCTGGAGTGTGCCCGCCTGTGCATGTGTGTGCCTGATCACACGTGTGTGTGTGTGCACGGGTCTGTGTGCATGTGTGTGCATATATGTGTATGTGGTTGTGCATACGTATGTGCATGTGTGTGCATA... |
Task1_train_2788 | Here is a genetic alteration in GJC2 (gap junction protein gamma 2) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Spastic paraplegia | ATTGCCCCCACACAGCTGGGCAGGCTGGCCCTGGCACTGAAGGCCTCCTGCCCCATCTCTCCCTTGAGCCTGCTCTGTCTCAGGTTCCTGTCGGGCTGGAATCAGTGGGCCTTAGCCTGCTGTGATGGGTCAGGTGGGGAGGGAGGTGGGCCCTGCCTACTGGAGCCAGGGAGATAGGGGAGGTGGCCTCAGGGCTGGAGTGTGCCCGCCTGTGCATGTGTGTGCCTGATCACACGTGTGTGTGTGTGCACGGGTCTGTGTGCATGTGTGTGCATATATGTGTATGTGGTTGTGCATACGTATGTGCATGTGTGTGCATA... | ATTGCCCCCACACAGCTGGGCAGGCTGGCCCTGGCACTGAAGGCCTCCTGCCCCATCTCTCCCTTGAGCCTGCTCTGTCTCAGGTTCCTGTCGGGCTGGAATCAGTGGGCCTTAGCCTGCTGTGATGGGTCAGGTGGGGAGGGAGGTGGGCCCTGCCTACTGGAGCCAGGGAGATAGGGGAGGTGGCCTCAGGGCTGGAGTGTGCCCGCCTGTGCATGTGTGTGCCTGATCACACGTGTGTGTGTGTGCACGGGTCTGTGTGCATGTGTGTGCATATATGTGTATGTGGTTGTGCATACGTATGTGCATGTGTGTGCATA... |
Task1_train_2789 | This mutation occurs in GJC2 (gap junction protein gamma 2) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hypomyelinating leukodystrophy 2 | GAGCCTGCTCTGTCTCAGGTTCCTGTCGGGCTGGAATCAGTGGGCCTTAGCCTGCTGTGATGGGTCAGGTGGGGAGGGAGGTGGGCCCTGCCTACTGGAGCCAGGGAGATAGGGGAGGTGGCCTCAGGGCTGGAGTGTGCCCGCCTGTGCATGTGTGTGCCTGATCACACGTGTGTGTGTGTGCACGGGTCTGTGTGCATGTGTGTGCATATATGTGTATGTGGTTGTGCATACGTATGTGCATGTGTGTGCATATGCACAAGTGTGTATGTGCCACTGTTTTCATGCATGTGCATCTGCATGTGAGTGCAAAGAAGCAT... | GAGCCTGCTCTGTCTCAGGTTCCTGTCGGGCTGGAATCAGTGGGCCTTAGCCTGCTGTGATGGGTCAGGTGGGGAGGGAGGTGGGCCCTGCCTACTGGAGCCAGGGAGATAGGGGAGGTGGCCTCAGGGCTGGAGTGTGCCCGCCTGTGCATGTGTGTGCCTGATCACACGTGTGTGTGTGTGCACGGGTCTGTGTGCATGTGTGTGCATATATGTGTATGTGGTTGTGCATACGTATGTGCATGTGTGTGCATATGCACAAGTGTGTATGTGCCACTGTTTTCATGCATGTGCATCTGCATGTGAGTGCAAAGAAGCAT... |
Task1_train_2790 | Gene GJC2 (gap junction protein gamma 2), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Lymphatic malformation 3 | TGTGAATGTGTGTGGCTCTGAGGGGTACTGCACAGATGTGAGGAAGCAGGGCCACTTCCCCAGGAACCCTGACTGCCCCCTCTTCCTGCCCCGGGTGGGGAGGCCTCAGCTGCATAAAGAGGCCGGGAGCCTCACCAGCGACTGCTGCTGGTCCCACACCTGCCGCTGCTGCCTCCCAGGCCAGGTACCGGGAGGGGGCCAGAGGCGGAGGGAGCTAAGGGGTCTCCTGCCTCAGCGACCCAGGAGCAGGTACTGGCCCTGGGGCAACCGCCAGCAGAGGGTGGGCAGGGGAGCTGCAGGAGCTCTCCTTCTTTGGAGCA... | TGTGAATGTGTGTGGCTCTGAGGGGTACTGCACAGATGTGAGGAAGCAGGGCCACTTCCCCAGGAACCCTGACTGCCCCCTCTTCCTGCCCCGGGTGGGGAGGCCTCAGCTGCATAAAGAGGCCGGGAGCCTCACCAGCGACTGCTGCTGGTCCCACACCTGCCGCTGCTGCCTCCCAGGCCAGGTACCGGGAGGGGGCCAGAGGCGGAGGGAGCTAAGGGGTCTCCTGCCTCAGCGACCCAGGAGCAGGTACTGGCCCTGGGGCAACCGCCAGCAGAGGGTGGGCAGGGGAGCTGCAGGAGCTCTCCTTCTTTGGAGCA... |
Task1_train_2791 | This variant affects gene GJC2 (gap junction protein gamma 2) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Hypomyelinating leukodystrophy 2 | GTGTGGCTCTGAGGGGTACTGCACAGATGTGAGGAAGCAGGGCCACTTCCCCAGGAACCCTGACTGCCCCCTCTTCCTGCCCCGGGTGGGGAGGCCTCAGCTGCATAAAGAGGCCGGGAGCCTCACCAGCGACTGCTGCTGGTCCCACACCTGCCGCTGCTGCCTCCCAGGCCAGGTACCGGGAGGGGGCCAGAGGCGGAGGGAGCTAAGGGGTCTCCTGCCTCAGCGACCCAGGAGCAGGTACTGGCCCTGGGGCAACCGCCAGCAGAGGGTGGGCAGGGGAGCTGCAGGAGCTCTCCTTCTTTGGAGCACAGGCCCTG... | GTGTGGCTCTGAGGGGTACTGCACAGATGTGAGGAAGCAGGGCCACTTCCCCAGGAACCCTGACTGCCCCCTCTTCCTGCCCCGGGTGGGGAGGCCTCAGCTGCATAAAGAGGCCGGGAGCCTCACCAGCGACTGCTGCTGGTCCCACACCTGCCGCTGCTGCCTCCCAGGCCAGGTACCGGGAGGGGGCCAGAGGCGGAGGGAGCTAAGGGGTCTCCTGCCTCAGCGACCCAGGAGCAGGTACTGGCCCTGGGGCAACCGCCAGCAGAGGGTGGGCAGGGGAGCTGCAGGAGCTCTCCTTCTTTGGAGCACAGGCCCTG... |
Task1_train_2792 | A sequence alteration has been identified in GJC2 (gap junction protein gamma 2) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Hypomyelinating leukodystrophy 2 | TGTGAGGAAGCAGGGCCACTTCCCCAGGAACCCTGACTGCCCCCTCTTCCTGCCCCGGGTGGGGAGGCCTCAGCTGCATAAAGAGGCCGGGAGCCTCACCAGCGACTGCTGCTGGTCCCACACCTGCCGCTGCTGCCTCCCAGGCCAGGTACCGGGAGGGGGCCAGAGGCGGAGGGAGCTAAGGGGTCTCCTGCCTCAGCGACCCAGGAGCAGGTACTGGCCCTGGGGCAACCGCCAGCAGAGGGTGGGCAGGGGAGCTGCAGGAGCTCTCCTTCTTTGGAGCACAGGCCCTGCTGCACAGCCCTTTCCTGGGCACTTGC... | TGTGAGGAAGCAGGGCCACTTCCCCAGGAACCCTGACTGCCCCCTCTTCCTGCCCCGGGTGGGGAGGCCTCAGCTGCATAAAGAGGCCGGGAGCCTCACCAGCGACTGCTGCTGGTCCCACACCTGCCGCTGCTGCCTCCCAGGCCAGGTACCGGGAGGGGGCCAGAGGCGGAGGGAGCTAAGGGGTCTCCTGCCTCAGCGACCCAGGAGCAGGTACTGGCCCTGGGGCAACCGCCAGCAGAGGGTGGGCAGGGGAGCTGCAGGAGCTCTCCTTCTTTGGAGCACAGGCCCTGCTGCACAGCCCTTTCCTGGGCACTTGC... |
Task1_train_2793 | The gene GJC2 (gap junction protein gamma 2) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; See cases | CTCTTCCTGCCCCGGGTGGGGAGGCCTCAGCTGCATAAAGAGGCCGGGAGCCTCACCAGCGACTGCTGCTGGTCCCACACCTGCCGCTGCTGCCTCCCAGGCCAGGTACCGGGAGGGGGCCAGAGGCGGAGGGAGCTAAGGGGTCTCCTGCCTCAGCGACCCAGGAGCAGGTACTGGCCCTGGGGCAACCGCCAGCAGAGGGTGGGCAGGGGAGCTGCAGGAGCTCTCCTTCTTTGGAGCACAGGCCCTGCTGCACAGCCCTTTCCTGGGCACTTGCCCACCTTGGGCTTGGCTGGTCTGCGGCATAGCTGTCTCTGAGG... | CTCTTCCTGCCCCGGGTGGGGAGGCCTCAGCTGCATAAAGAGGCCGGGAGCCTCACCAGCGACTGCTGCTGGTCCCACACCTGCCGCTGCTGCCTCCCAGGCCAGGTACCGGGAGGGGGCCAGAGGCGGAGGGAGCTAAGGGGTCTCCTGCCTCAGCGACCCAGGAGCAGGTACTGGCCCTGGGGCAACCGCCAGCAGAGGGTGGGCAGGGGAGCTGCAGGAGCTCTCCTTCTTTGGAGCACAGGCCCTGCTGCACAGCCCTTTCCTGGGCACTTGCCCACCTTGGGCTTGGCTGGTCTGCGGCATAGCTGTCTCTGAGG... |
Task1_train_2794 | This mutation occurs in IBA57 (iron-sulfur cluster assembly factor IBA57) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hereditary spastic paraplegia 74 | GGCCGCCAGGCAGGGCCCCACACCACATGATGCGCCTTGGTGCAGTCTTCCTCACTGATGTTACTACGCATCATGAGGAATTTTTTTATTCAACAGATACAAAGACCTCTGCTTGCTGGGACTCTGCACCATAAGGACACATTGAGTAAGTCTTCTTTGGTGCTTTGAGTGGAGGGCAGTGGAGAGGGGAATGTCAACAGGGTGCATGGGCCCCAGGAGGCCAGCAAGGCAGGGATGGCTTGGACCAGGGCAGTCAGACTCTAGGGCTGAAGGCTGCTGGGGCCACCTTGTAGATGTGTCACCTACTACCAGGGAAAGTG... | GGCCGCCAGGCAGGGCCCCACACCACATGATGCGCCTTGGTGCAGTCTTCCTCACTGATGTTACTACGCATCATGAGGAATTTTTTTATTCAACAGATACAAAGACCTCTGCTTGCTGGGACTCTGCACCATAAGGACACATTGAGTAAGTCTTCTTTGGTGCTTTGAGTGGAGGGCAGTGGAGAGGGGAATGTCAACAGGGTGCATGGGCCCCAGGAGGCCAGCAAGGCAGGGATGGCTTGGACCAGGGCAGTCAGACTCTAGGGCTGAAGGCTGCTGGGGCCACCTTGTAGATGTGTCACCTACTACCAGGGAAAGTG... |
Task1_train_2795 | A change on Chromosome 1 affects gene IBA57 (iron-sulfur cluster assembly factor IBA57). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Multiple mitochondrial dysfunctions syndrome 3 | GGCCGCCAGGCAGGGCCCCACACCACATGATGCGCCTTGGTGCAGTCTTCCTCACTGATGTTACTACGCATCATGAGGAATTTTTTTATTCAACAGATACAAAGACCTCTGCTTGCTGGGACTCTGCACCATAAGGACACATTGAGTAAGTCTTCTTTGGTGCTTTGAGTGGAGGGCAGTGGAGAGGGGAATGTCAACAGGGTGCATGGGCCCCAGGAGGCCAGCAAGGCAGGGATGGCTTGGACCAGGGCAGTCAGACTCTAGGGCTGAAGGCTGCTGGGGCCACCTTGTAGATGTGTCACCTACTACCAGGGAAAGTG... | GGCCGCCAGGCAGGGCCCCACACCACATGATGCGCCTTGGTGCAGTCTTCCTCACTGATGTTACTACGCATCATGAGGAATTTTTTTATTCAACAGATACAAAGACCTCTGCTTGCTGGGACTCTGCACCATAAGGACACATTGAGTAAGTCTTCTTTGGTGCTTTGAGTGGAGGGCAGTGGAGAGGGGAATGTCAACAGGGTGCATGGGCCCCAGGAGGCCAGCAAGGCAGGGATGGCTTGGACCAGGGCAGTCAGACTCTAGGGCTGAAGGCTGCTGGGGCCACCTTGTAGATGTGTCACCTACTACCAGGGAAAGTG... |
Task1_train_2796 | A variant has been detected on Chromosome 1 in IBA57 (iron-sulfur cluster assembly factor IBA57). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Multiple mitochondrial dysfunctions syndrome 3 | GGCCGCCAGGCAGGGCCCCACACCACATGATGCGCCTTGGTGCAGTCTTCCTCACTGATGTTACTACGCATCATGAGGAATTTTTTTATTCAACAGATACAAAGACCTCTGCTTGCTGGGACTCTGCACCATAAGGACACATTGAGTAAGTCTTCTTTGGTGCTTTGAGTGGAGGGCAGTGGAGAGGGGAATGTCAACAGGGTGCATGGGCCCCAGGAGGCCAGCAAGGCAGGGATGGCTTGGACCAGGGCAGTCAGACTCTAGGGCTGAAGGCTGCTGGGGCCACCTTGTAGATGTGTCACCTACTACCAGGGAAAGTG... | GGCCGCCAGGCAGGGCCCCACACCACATGATGCGCCTTGGTGCAGTCTTCCTCACTGATGTTACTACGCATCATGAGGAATTTTTTTATTCAACAGATACAAAGACCTCTGCTTGCTGGGACTCTGCACCATAAGGACACATTGAGTAAGTCTTCTTTGGTGCTTTGAGTGGAGGGCAGTGGAGAGGGGAATGTCAACAGGGTGCATGGGCCCCAGGAGGCCAGCAAGGCAGGGATGGCTTGGACCAGGGCAGTCAGACTCTAGGGCTGAAGGCTGCTGGGGCCACCTTGTAGATGTGTCACCTACTACCAGGGAAAGTG... |
Task1_train_2797 | Consider a variant on Chromosome 1 in gene IBA57 (iron-sulfur cluster assembly factor IBA57). Determine its clinical classification and disease relevance. | Pathogenic; Multiple mitochondrial dysfunctions syndrome 3 | CTGTGCTGTCCTTGCTGTTCCTCCCGTCATCTTAGCCCACGTGTGTAAATGACATATGTTCCCCTCCCTTGTGGGTGTTGTTTTTGATGTCCTGTGACCGCTGTCCTGGAGTGTGGGCCAGATTCACTGGCTGTCACAGCTGGCTATGCCCACCCTCCCTGCGGCAGGGTCCTCAGTGAGACCTGTGCCTACTGGTTCTGGGTGATGAGCGTGAACGTTCTCCGTGGCTGCTGGCACGTGGGCATGACCACAGGGTAGAGTGAGACTGCAGAGATGAGGGCAGCAGGCCCCTGCTTGGCACCTGAAGCCCTGGGCAACTG... | CTGTGCTGTCCTTGCTGTTCCTCCCGTCATCTTAGCCCACGTGTGTAAATGACATATGTTCCCCTCCCTTGTGGGTGTTGTTTTTGATGTCCTGTGACCGCTGTCCTGGAGTGTGGGCCAGATTCACTGGCTGTCACAGCTGGCTATGCCCACCCTCCCTGCGGCAGGGTCCTCAGTGAGACCTGTGCCTACTGGTTCTGGGTGATGAGCGTGAACGTTCTCCGTGGCTGCTGGCACGTGGGCATGACCACAGGGTAGAGTGAGACTGCAGAGATGAGGGCAGCAGGCCCCTGCTTGGCACCTGAAGCCCTGGGCAACTG... |
Task1_train_2798 | Gene IBA57 (iron-sulfur cluster assembly factor IBA57) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Multiple mitochondrial dysfunctions syndrome 3 | TGGTTCTGGGTGATGAGCGTGAACGTTCTCCGTGGCTGCTGGCACGTGGGCATGACCACAGGGTAGAGTGAGACTGCAGAGATGAGGGCAGCAGGCCCCTGCTTGGCACCTGAAGCCCTGGGCAACTGGCAAGGACTGAGCCCTCTCCTGGCTGGAAGGGGCTGGGCCACCTGCTCTTGGGCTTGTCTCTGGAAGGCCCTCTGGGGGTCTTACTACCTCCCTGTCTCAGCTCCCACCAGCCTGTGAAGCCCTGTGCAGTCCATACCTGCAATCAACCCCAGCCATGGAGGTGGCTGTACCCCAGGTGTCTCCACTTAGTG... | TGGTTCTGGGTGATGAGCGTGAACGTTCTCCGTGGCTGCTGGCACGTGGGCATGACCACAGGGTAGAGTGAGACTGCAGAGATGAGGGCAGCAGGCCCCTGCTTGGCACCTGAAGCCCTGGGCAACTGGCAAGGACTGAGCCCTCTCCTGGCTGGAAGGGGCTGGGCCACCTGCTCTTGGGCTTGTCTCTGGAAGGCCCTCTGGGGGTCTTACTACCTCCCTGTCTCAGCTCCCACCAGCCTGTGAAGCCCTGTGCAGTCCATACCTGCAATCAACCCCAGCCATGGAGGTGGCTGTACCCCAGGTGTCTCCACTTAGTG... |
Task1_train_2799 | The gene IBA57 (iron-sulfur cluster assembly factor IBA57) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Multiple mitochondrial dysfunctions syndrome 3 | GAACGTTCTCCGTGGCTGCTGGCACGTGGGCATGACCACAGGGTAGAGTGAGACTGCAGAGATGAGGGCAGCAGGCCCCTGCTTGGCACCTGAAGCCCTGGGCAACTGGCAAGGACTGAGCCCTCTCCTGGCTGGAAGGGGCTGGGCCACCTGCTCTTGGGCTTGTCTCTGGAAGGCCCTCTGGGGGTCTTACTACCTCCCTGTCTCAGCTCCCACCAGCCTGTGAAGCCCTGTGCAGTCCATACCTGCAATCAACCCCAGCCATGGAGGTGGCTGTACCCCAGGTGTCTCCACTTAGTGCCCCCCCCCCCGACATGCCC... | GAACGTTCTCCGTGGCTGCTGGCACGTGGGCATGACCACAGGGTAGAGTGAGACTGCAGAGATGAGGGCAGCAGGCCCCTGCTTGGCACCTGAAGCCCTGGGCAACTGGCAAGGACTGAGCCCTCTCCTGGCTGGAAGGGGCTGGGCCACCTGCTCTTGGGCTTGTCTCTGGAAGGCCCTCTGGGGGTCTTACTACCTCCCTGTCTCAGCTCCCACCAGCCTGTGAAGCCCTGTGCAGTCCATACCTGCAATCAACCCCAGCCATGGAGGTGGCTGTACCCCAGGTGTCTCCACTTAGTGCCCCCCCCCCCGACATGCCC... |
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