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_5700 | Here is a genetic alteration in CHRNG (cholinergic receptor nicotinic gamma subunit) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Autosomal recessive multiple pterygium syndrome | AAAATGGAAAGGCAAGGCTCTCAGAAGTGAGAAGGAAACGAGGGCTTTGTAAATTCCAGGAAAAGTGGGCCACACAGAGAGAAGCTCAGTGGGGGGGATGCCCAGGGAGGGGGAAGCTCAGGAAGGGGGAAGCTCAGGGAGGAGGAAGCTCAGAGAGGAGGAAGCTCAGGGAAAGGGAAGCCCAGTGAGGGGGAAGCTTAGGGAGGGAGAAGCTCAGGGAGGGGGAAGCTCTGGGAGGAGGAAGCTCAGGGAAAGGGAAGCCCAGTGAGGGGGAAGGTCAGCGAGGGGGAAGTTCAGGGAGAGGGATGCTGAGTGAGGGG... | AAAATGGAAAGGCAAGGCTCTCAGAAGTGAGAAGGAAACGAGGGCTTTGTAAATTCCAGGAAAAGTGGGCCACACAGAGAGAAGCTCAGTGGGGGGGATGCCCAGGGAGGGGGAAGCTCAGGAAGGGGGAAGCTCAGGGAGGAGGAAGCTCAGAGAGGAGGAAGCTCAGGGAAAGGGAAGCCCAGTGAGGGGGAAGCTTAGGGAGGGAGAAGCTCAGGGAGGGGGAAGCTCTGGGAGGAGGAAGCTCAGGGAAAGGGAAGCCCAGTGAGGGGGAAGGTCAGCGAGGGGGAAGTTCAGGGAGAGGGATGCTGAGTGAGGGG... |
Task1_train_5701 | A mutation found in CHRNG (cholinergic receptor nicotinic gamma subunit) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Lethal multiple pterygium syndrome | CCCAGCTGGCCCTGGCTGTCCTTGCCCCCCATGTGGAACATGGAGGTGAGGCTGGGACAACTGAGCCCGAGTTGGGGCTGGAAGGTGGATGTCTCTTTTGGGGCAGACGGGGCCCCTGTCTCCCCTCTCCAGCCCAGGTAACCTGAGCCCAGCATTGTGTCCATCCTGGAACAGCTGACAACGCTGTGGTCAGACAGCTGGTGGGGCTGGGCCAGGCTGGCCGGGCTGGCTGGGCTGGCTGGGGTGGGAGTGTAGGCTGTTATATGACACCCAGAGCCCATCTCTCTCTGCCCCAGACCTTGGAGCTGTTGTCCCACCCC... | CCCAGCTGGCCCTGGCTGTCCTTGCCCCCCATGTGGAACATGGAGGTGAGGCTGGGACAACTGAGCCCGAGTTGGGGCTGGAAGGTGGATGTCTCTTTTGGGGCAGACGGGGCCCCTGTCTCCCCTCTCCAGCCCAGGTAACCTGAGCCCAGCATTGTGTCCATCCTGGAACAGCTGACAACGCTGTGGTCAGACAGCTGGTGGGGCTGGGCCAGGCTGGCCGGGCTGGCTGGGCTGGCTGGGGTGGGAGTGTAGGCTGTTATATGACACCCAGAGCCCATCTCTCTCTGCCCCAGACCTTGGAGCTGTTGTCCCACCCC... |
Task1_train_5702 | A variant has been detected on Chromosome 2 in CHRNG (cholinergic receptor nicotinic gamma subunit). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Lethal multiple pterygium syndrome | GGCCACCTGGGTGGGCTGCTCCCTTCCCTGTAACATGGGGCCGCTGACGGGTCCTATAGAAGCTGGCGAGAGTCAACAAGACAGGCATGAAAAGTGCATCACTCGGGGGCTGGCACATGGTGTGGGCTTAACACATTAGTCGCTATTATGACTATTATTATTATTATTATTATTATGATTAAAACAAGAGAGAGTAAGATAAGCAGAAATTAGGAGGTGGTGCCTGAGGAAGTCTGTCTGGGGCGGGGGGTGGCAGGAGGATTGCTGGGGGGACCTAGTGGTCCGGGTGGGAACCAGTCAGGGGGTGACAGGCTGGTAGG... | GGCCACCTGGGTGGGCTGCTCCCTTCCCTGTAACATGGGGCCGCTGACGGGTCCTATAGAAGCTGGCGAGAGTCAACAAGACAGGCATGAAAAGTGCATCACTCGGGGGCTGGCACATGGTGTGGGCTTAACACATTAGTCGCTATTATGACTATTATTATTATTATTATTATTATGATTAAAACAAGAGAGAGTAAGATAAGCAGAAATTAGGAGGTGGTGCCTGAGGAAGTCTGTCTGGGGCGGGGGGTGGCAGGAGGATTGCTGGGGGGACCTAGTGGTCCGGGTGGGAACCAGTCAGGGGGTGACAGGCTGGTAGG... |
Task1_train_5703 | Chromosome 2 houses a mutation in gene CHRNG (cholinergic receptor nicotinic gamma subunit). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Autosomal recessive multiple pterygium syndrome | GGCCACCTGGGTGGGCTGCTCCCTTCCCTGTAACATGGGGCCGCTGACGGGTCCTATAGAAGCTGGCGAGAGTCAACAAGACAGGCATGAAAAGTGCATCACTCGGGGGCTGGCACATGGTGTGGGCTTAACACATTAGTCGCTATTATGACTATTATTATTATTATTATTATTATGATTAAAACAAGAGAGAGTAAGATAAGCAGAAATTAGGAGGTGGTGCCTGAGGAAGTCTGTCTGGGGCGGGGGGTGGCAGGAGGATTGCTGGGGGGACCTAGTGGTCCGGGTGGGAACCAGTCAGGGGGTGACAGGCTGGTAGG... | GGCCACCTGGGTGGGCTGCTCCCTTCCCTGTAACATGGGGCCGCTGACGGGTCCTATAGAAGCTGGCGAGAGTCAACAAGACAGGCATGAAAAGTGCATCACTCGGGGGCTGGCACATGGTGTGGGCTTAACACATTAGTCGCTATTATGACTATTATTATTATTATTATTATTATGATTAAAACAAGAGAGAGTAAGATAAGCAGAAATTAGGAGGTGGTGCCTGAGGAAGTCTGTCTGGGGCGGGGGGTGGCAGGAGGATTGCTGGGGGGACCTAGTGGTCCGGGTGGGAACCAGTCAGGGGGTGACAGGCTGGTAGG... |
Task1_train_5704 | A sequence alteration has been identified in GIGYF2, KCNJ13 (GRB10 interacting GYF protein 2| potassium inwardly rectifying channel subfamily J member 13) on Chromosome 2. Is it disease-inducing or harmless? | Pathogenic; Leber congenital amaurosis 16 | TCTTGTTAATTTATTATAGAAATAAGAATTCTTGCTGTCTTTATGTGTTACAATAGTCTTGGGTTGGGAAAATCTGTTGGTCTGATTTCTACTTAAGAATGAATGTCTAAGATTTTCAAACAGCAAAAGTTCACAATAATTAAGTTTCTGTGTTCTTGATATTCTTCTGCTATTATCAGTCTTAGACCACTCCAGAGTTCTTCTTTATTTTCTTTTCCTTTTGGTCAAATAGTAGAAAAATGTGACTTGCTGCTGAGCCCTGCTCTTCACACCTGCTTGCCTTTACTCAGCTAGTATTTATTTCAAGAGATGATTCCTGC... | TCTTGTTAATTTATTATAGAAATAAGAATTCTTGCTGTCTTTATGTGTTACAATAGTCTTGGGTTGGGAAAATCTGTTGGTCTGATTTCTACTTAAGAATGAATGTCTAAGATTTTCAAACAGCAAAAGTTCACAATAATTAAGTTTCTGTGTTCTTGATATTCTTCTGCTATTATCAGTCTTAGACCACTCCAGAGTTCTTCTTTATTTTCTTTTCCTTTTGGTCAAATAGTAGAAAAATGTGACTTGCTGCTGAGCCCTGCTCTTCACACCTGCTTGCCTTTACTCAGCTAGTATTTATTTCAAGAGATGATTCCTGC... |
Task1_train_5705 | This sequence change occurs on Chromosome 2, altering GIGYF2, KCNJ13 (GRB10 interacting GYF protein 2| potassium inwardly rectifying channel subfamily J member 13). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Leber congenital amaurosis 16 | AAATAGTAGAAAAATGTGACTTGCTGCTGAGCCCTGCTCTTCACACCTGCTTGCCTTTACTCAGCTAGTATTTATTTCAAGAGATGATTCCTGCCTAGGTCATCACCAGTGGGGAAGGTTAATCTTTCATTTTTCCCACAGAAACCTGAATAAGGGAAATTTCAGAAAAGAACAGCCACAAATCTGTTTGAAACCTGATAGGGTGACTTTTTTGGTTTTTGTTTTGTTTTAAGGACAGTTTCTCTTTTTTTTATTGAAATGAAAATCATGCAAATGATCATCTTAAACTGGACATAAGGGAAAGGGCTCATTTTAGCATA... | AAATAGTAGAAAAATGTGACTTGCTGCTGAGCCCTGCTCTTCACACCTGCTTGCCTTTACTCAGCTAGTATTTATTTCAAGAGATGATTCCTGCCTAGGTCATCACCAGTGGGGAAGGTTAATCTTTCATTTTTCCCACAGAAACCTGAATAAGGGAAATTTCAGAAAAGAACAGCCACAAATCTGTTTGAAACCTGATAGGGTGACTTTTTTGGTTTTTGTTTTGTTTTAAGGACAGTTTCTCTTTTTTTTATTGAAATGAAAATCATGCAAATGATCATCTTAAACTGGACATAAGGGAAAGGGCTCATTTTAGCATA... |
Task1_train_5706 | This variant lies on Chromosome 2 and affects the gene SAG (S-antigen visual arrestin). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Retinal dystrophy | TTAGCCAGGCATGGTGGCGCGTGCCTGTAATCCCAGCCAATTGCTTGAACCTGGGAGGCGGAGATTGCAGTGAGCCGAGATTGTGCCACTGCATTCCAGCCTGGGCATTAGAGCAAGGCTCCATCTCAAAAAAAAAAAAAAAAAATTAGCTGGGCATGGTAGTGTGCTACTTGGGAGGCTGAGGTAGGAGAATCACTCAAACTTGGGAGGCGGAGGTTGCAGTGAACTGAAATTGTGCCACTACACTCCAGCCTGAGCAACAGAGCAAGACTCCATCTAAAAAAAAAAAAAAATAGAACAGAACAAAATGGAATGGATTG... | TTAGCCAGGCATGGTGGCGCGTGCCTGTAATCCCAGCCAATTGCTTGAACCTGGGAGGCGGAGATTGCAGTGAGCCGAGATTGTGCCACTGCATTCCAGCCTGGGCATTAGAGCAAGGCTCCATCTCAAAAAAAAAAAAAAAAAATTAGCTGGGCATGGTAGTGTGCTACTTGGGAGGCTGAGGTAGGAGAATCACTCAAACTTGGGAGGCGGAGGTTGCAGTGAACTGAAATTGTGCCACTACACTCCAGCCTGAGCAACAGAGCAAGACTCCATCTAAAAAAAAAAAAAAATAGAACAGAACAAAATGGAATGGATTG... |
Task1_train_5707 | This alteration in UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 (UDP glucuronosyltransferase family 1 member A complex locus| UDP glucuronosyltransferase family 1 member A1| UDP glucuronosyltransferase family 1 member A10| UDP glucuronosyltransferase family 1 member A3| UDP glucuronosy... | Pathogenic; Gilbert syndrome | ATGTTGGGATCTGTGCAGTTATCTTGGAATTGTATAGTACAGCAGTATATCCCCCCCAAAAAGAGTGTAATACTTCCAATTCTGGCTGCACAATACTTGCCCCATAGTCCATGGTCAATAAATACAAATTTGAGTTGTTTTTGCTCATCTTTCCCTTTTGACTTCAAATCAGTCATCAGAATTTCCCCAAATGCCTTTCCCCTGGATCTTGGGCCAGTGGAATGAGTACAATTTAACTTAATTGAATTTGCTTATCTATTTGGTTTCCTGTTGTGAACAAAAGTTCTCTGAAAAGGAATTTGGAAGAAAGAGACTTTGTT... | ATGTTGGGATCTGTGCAGTTATCTTGGAATTGTATAGTACAGCAGTATATCCCCCCCAAAAAGAGTGTAATACTTCCAATTCTGGCTGCACAATACTTGCCCCATAGTCCATGGTCAATAAATACAAATTTGAGTTGTTTTTGCTCATCTTTCCCTTTTGACTTCAAATCAGTCATCAGAATTTCCCCAAATGCCTTTCCCCTGGATCTTGGGCCAGTGGAATGAGTACAATTTAACTTAATTGAATTTGCTTATCTATTTGGTTTCCTGTTGTGAACAAAAGTTCTCTGAAAAGGAATTTGGAAGAAAGAGACTTTGTT... |
Task1_train_5708 | A variant on Chromosome 2 in gene UGT1A9, UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8 (UDP glucuronosyltransferase family 1 member A9| UDP glucuronosyltransferase family 1 member A complex locus| UDP glucuronosyltransferase family 1 member A1| UDP glucuronosyltransferase family 1 member A10| ... | Pathogenic; Crigler-Najjar syndrome, type II | AATTTGGAAGAAAGAGACTTTGTTCTAGTGAACAGTTTGCAAACCAGGGAGTTACAGCCTCTGGTACGCAATGAAGGTGAGTTCCACAGAACACAAGGCAGGCAGGTTTCACGGCAAAAAGTTCCTTCCCAGGTTCCCAATCAGGTCCATTTATGCAAATGAAGGATGGAAACTTGCTTAGTTCTTATTGGTCACTGCAGCTGCATTCTGATTGGTTGATGAAGCTGAGCCCTGAGTGGCTGAGGTGGGTGAGCTTTAATTGGTTGGTTCAGGTGAGCGCTGAAAATCTCAACTATAAAAAGGTACAGGTTTTCAGGATA... | AATTTGGAAGAAAGAGACTTTGTTCTAGTGAACAGTTTGCAAACCAGGGAGTTACAGCCTCTGGTACGCAATGAAGGTGAGTTCCACAGAACACAAGGCAGGCAGGTTTCACGGCAAAAAGTTCCTTCCCAGGTTCCCAATCAGGTCCATTTATGCAAATGAAGGATGGAAACTTGCTTAGTTCTTATTGGTCACTGCAGCTGCATTCTGATTGGTTGATGAAGCTGAGCCCTGAGTGGCTGAGGTGGGTGAGCTTTAATTGGTTGGTTCAGGTGAGCGCTGAAAATCTCAACTATAAAAAGGTACAGGTTTTCAGGATA... |
Task1_train_5709 | A variant found in Chromosome 2 affects UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 (UDP glucuronosyltransferase family 1 member A complex locus| UDP glucuronosyltransferase family 1 member A1| UDP glucuronosyltransferase family 1 member A10| UDP glucuronosyltransferase family 1 membe... | Pathogenic; Crigler-Najjar syndrome | CCATGTTGATGAAACAGGAAAACTTTCCTTGTCCCCCTCACAGAGCATGTGACAGCGGGAGGGGCTCACTTTCTCAGTGCGCCACTGCTCAAACCTCTAGGGGAGCATACAGACGGGCAGGTTGTGGGGCTCTGACCTCACCGGCAGTGTCTAGAGGTGGATGTTTACAGCTCCTGAAGCTCCAGTGGGCGTGGGTTATGGCCTTCTTTTAGTTTTGCCCTCTATAGTCAGCTTGTGTTAACCAGCTCAATTACACCCTCTACCTTGTCGCAAGGACAGAGGGCTTTCTGTATCCTGGGGGCTTGCCTTGGTGTACCAGA... | CCATGTTGATGAAACAGGAAAACTTTCCTTGTCCCCCTCACAGAGCATGTGACAGCGGGAGGGGCTCACTTTCTCAGTGCGCCACTGCTCAAACCTCTAGGGGAGCATACAGACGGGCAGGTTGTGGGGCTCTGACCTCACCGGCAGTGTCTAGAGGTGGATGTTTACAGCTCCTGAAGCTCCAGTGGGCGTGGGTTATGGCCTTCTTTTAGTTTTGCCCTCTATAGTCAGCTTGTGTTAACCAGCTCAATTACACCCTCTACCTTGTCGCAAGGACAGAGGGCTTTCTGTATCCTGGGGGCTTGCCTTGGTGTACCAGA... |
Task1_train_5710 | A genetic alteration is present in UGT1A5, UGT1A6, UGT1A7, UGT1A, UGT1A8, UGT1A9, UGT1A10, UGT1A3, UGT1A4, UGT1A1 (UDP glucuronosyltransferase family 1 member A5| UDP glucuronosyltransferase family 1 member A6| UDP glucuronosyltransferase family 1 member A7| UDP glucuronosyltransferase family 1 member A complex locus| ... | Pathogenic; Gilbert syndrome | CTCACTTTCTCAGTGCGCCACTGCTCAAACCTCTAGGGGAGCATACAGACGGGCAGGTTGTGGGGCTCTGACCTCACCGGCAGTGTCTAGAGGTGGATGTTTACAGCTCCTGAAGCTCCAGTGGGCGTGGGTTATGGCCTTCTTTTAGTTTTGCCCTCTATAGTCAGCTTGTGTTAACCAGCTCAATTACACCCTCTACCTTGTCGCAAGGACAGAGGGCTTTCTGTATCCTGGGGGCTTGCCTTGGTGTACCAGAAGAATCGAATCCCACCTGGGCTTGGAGAATGAGTGCAAGGATTTATTGAGTGGATGTAGCTCTC... | CTCACTTTCTCAGTGCGCCACTGCTCAAACCTCTAGGGGAGCATACAGACGGGCAGGTTGTGGGGCTCTGACCTCACCGGCAGTGTCTAGAGGTGGATGTTTACAGCTCCTGAAGCTCCAGTGGGCGTGGGTTATGGCCTTCTTTTAGTTTTGCCCTCTATAGTCAGCTTGTGTTAACCAGCTCAATTACACCCTCTACCTTGTCGCAAGGACAGAGGGCTTTCTGTATCCTGGGGGCTTGCCTTGGTGTACCAGAAGAATCGAATCCCACCTGGGCTTGGAGAATGAGTGCAAGGATTTATTGAGTGGATGTAGCTCTC... |
Task1_train_5711 | Gene UGT1A5, UGT1A6, UGT1A7, UGT1A, UGT1A8, UGT1A9, UGT1A10, UGT1A3, UGT1A4, UGT1A1 (UDP glucuronosyltransferase family 1 member A5| UDP glucuronosyltransferase family 1 member A6| UDP glucuronosyltransferase family 1 member A7| UDP glucuronosyltransferase family 1 member A complex locus| UDP glucuronosyltransferase fa... | Pathogenic; Lucey-Driscoll syndrome | CTCACTTTCTCAGTGCGCCACTGCTCAAACCTCTAGGGGAGCATACAGACGGGCAGGTTGTGGGGCTCTGACCTCACCGGCAGTGTCTAGAGGTGGATGTTTACAGCTCCTGAAGCTCCAGTGGGCGTGGGTTATGGCCTTCTTTTAGTTTTGCCCTCTATAGTCAGCTTGTGTTAACCAGCTCAATTACACCCTCTACCTTGTCGCAAGGACAGAGGGCTTTCTGTATCCTGGGGGCTTGCCTTGGTGTACCAGAAGAATCGAATCCCACCTGGGCTTGGAGAATGAGTGCAAGGATTTATTGAGTGGATGTAGCTCTC... | CTCACTTTCTCAGTGCGCCACTGCTCAAACCTCTAGGGGAGCATACAGACGGGCAGGTTGTGGGGCTCTGACCTCACCGGCAGTGTCTAGAGGTGGATGTTTACAGCTCCTGAAGCTCCAGTGGGCGTGGGTTATGGCCTTCTTTTAGTTTTGCCCTCTATAGTCAGCTTGTGTTAACCAGCTCAATTACACCCTCTACCTTGTCGCAAGGACAGAGGGCTTTCTGTATCCTGGGGGCTTGCCTTGGTGTACCAGAAGAATCGAATCCCACCTGGGCTTGGAGAATGAGTGCAAGGATTTATTGAGTGGATGTAGCTCTC... |
Task1_train_5712 | Mutation context: Chromosome 2, Gene UGT1A5, UGT1A6, UGT1A7, UGT1A, UGT1A8, UGT1A9, UGT1A10, UGT1A3, UGT1A4, UGT1A1 (UDP glucuronosyltransferase family 1 member A5| UDP glucuronosyltransferase family 1 member A6| UDP glucuronosyltransferase family 1 member A7| UDP glucuronosyltransferase family 1 member A complex locus... | Pathogenic; Crigler-Najjar syndrome type 1 | CTCACTTTCTCAGTGCGCCACTGCTCAAACCTCTAGGGGAGCATACAGACGGGCAGGTTGTGGGGCTCTGACCTCACCGGCAGTGTCTAGAGGTGGATGTTTACAGCTCCTGAAGCTCCAGTGGGCGTGGGTTATGGCCTTCTTTTAGTTTTGCCCTCTATAGTCAGCTTGTGTTAACCAGCTCAATTACACCCTCTACCTTGTCGCAAGGACAGAGGGCTTTCTGTATCCTGGGGGCTTGCCTTGGTGTACCAGAAGAATCGAATCCCACCTGGGCTTGGAGAATGAGTGCAAGGATTTATTGAGTGGATGTAGCTCTC... | CTCACTTTCTCAGTGCGCCACTGCTCAAACCTCTAGGGGAGCATACAGACGGGCAGGTTGTGGGGCTCTGACCTCACCGGCAGTGTCTAGAGGTGGATGTTTACAGCTCCTGAAGCTCCAGTGGGCGTGGGTTATGGCCTTCTTTTAGTTTTGCCCTCTATAGTCAGCTTGTGTTAACCAGCTCAATTACACCCTCTACCTTGTCGCAAGGACAGAGGGCTTTCTGTATCCTGGGGGCTTGCCTTGGTGTACCAGAAGAATCGAATCCCACCTGGGCTTGGAGAATGAGTGCAAGGATTTATTGAGTGGATGTAGCTCTC... |
Task1_train_5713 | This variant lies on Chromosome 2 and affects the gene UGT1A5, UGT1A6, UGT1A7, UGT1A, UGT1A8, UGT1A9, UGT1A10, UGT1A3, UGT1A4, UGT1A1 (UDP glucuronosyltransferase family 1 member A5| UDP glucuronosyltransferase family 1 member A6| UDP glucuronosyltransferase family 1 member A7| UDP glucuronosyltransferase family 1 memb... | Pathogenic; Gilbert syndrome | CTCACTTTCTCAGTGCGCCACTGCTCAAACCTCTAGGGGAGCATACAGACGGGCAGGTTGTGGGGCTCTGACCTCACCGGCAGTGTCTAGAGGTGGATGTTTACAGCTCCTGAAGCTCCAGTGGGCGTGGGTTATGGCCTTCTTTTAGTTTTGCCCTCTATAGTCAGCTTGTGTTAACCAGCTCAATTACACCCTCTACCTTGTCGCAAGGACAGAGGGCTTTCTGTATCCTGGGGGCTTGCCTTGGTGTACCAGAAGAATCGAATCCCACCTGGGCTTGGAGAATGAGTGCAAGGATTTATTGAGTGGATGTAGCTCTC... | CTCACTTTCTCAGTGCGCCACTGCTCAAACCTCTAGGGGAGCATACAGACGGGCAGGTTGTGGGGCTCTGACCTCACCGGCAGTGTCTAGAGGTGGATGTTTACAGCTCCTGAAGCTCCAGTGGGCGTGGGTTATGGCCTTCTTTTAGTTTTGCCCTCTATAGTCAGCTTGTGTTAACCAGCTCAATTACACCCTCTACCTTGTCGCAAGGACAGAGGGCTTTCTGTATCCTGGGGGCTTGCCTTGGTGTACCAGAAGAATCGAATCCCACCTGGGCTTGGAGAATGAGTGCAAGGATTTATTGAGTGGATGTAGCTCTC... |
Task1_train_5714 | A mutation in UGT1A5, UGT1A6, UGT1A7, UGT1A, UGT1A8, UGT1A9, UGT1A10, UGT1A3, UGT1A4, UGT1A1 (UDP glucuronosyltransferase family 1 member A5| UDP glucuronosyltransferase family 1 member A6| UDP glucuronosyltransferase family 1 member A7| UDP glucuronosyltransferase family 1 member A complex locus| UDP glucuronosyltrans... | Pathogenic; Crigler-Najjar syndrome, type II | CTCACTTTCTCAGTGCGCCACTGCTCAAACCTCTAGGGGAGCATACAGACGGGCAGGTTGTGGGGCTCTGACCTCACCGGCAGTGTCTAGAGGTGGATGTTTACAGCTCCTGAAGCTCCAGTGGGCGTGGGTTATGGCCTTCTTTTAGTTTTGCCCTCTATAGTCAGCTTGTGTTAACCAGCTCAATTACACCCTCTACCTTGTCGCAAGGACAGAGGGCTTTCTGTATCCTGGGGGCTTGCCTTGGTGTACCAGAAGAATCGAATCCCACCTGGGCTTGGAGAATGAGTGCAAGGATTTATTGAGTGGATGTAGCTCTC... | CTCACTTTCTCAGTGCGCCACTGCTCAAACCTCTAGGGGAGCATACAGACGGGCAGGTTGTGGGGCTCTGACCTCACCGGCAGTGTCTAGAGGTGGATGTTTACAGCTCCTGAAGCTCCAGTGGGCGTGGGTTATGGCCTTCTTTTAGTTTTGCCCTCTATAGTCAGCTTGTGTTAACCAGCTCAATTACACCCTCTACCTTGTCGCAAGGACAGAGGGCTTTCTGTATCCTGGGGGCTTGCCTTGGTGTACCAGAAGAATCGAATCCCACCTGGGCTTGGAGAATGAGTGCAAGGATTTATTGAGTGGATGTAGCTCTC... |
Task1_train_5715 | A genetic alteration is present in UGT1A5, UGT1A6, UGT1A7, UGT1A, UGT1A8, UGT1A9, UGT1A10, UGT1A3, UGT1A4, UGT1A1 (UDP glucuronosyltransferase family 1 member A5| UDP glucuronosyltransferase family 1 member A6| UDP glucuronosyltransferase family 1 member A7| UDP glucuronosyltransferase family 1 member A complex locus| ... | Pathogenic; Bilirubin, serum level of, quantitative trait locus 1 | CTCACTTTCTCAGTGCGCCACTGCTCAAACCTCTAGGGGAGCATACAGACGGGCAGGTTGTGGGGCTCTGACCTCACCGGCAGTGTCTAGAGGTGGATGTTTACAGCTCCTGAAGCTCCAGTGGGCGTGGGTTATGGCCTTCTTTTAGTTTTGCCCTCTATAGTCAGCTTGTGTTAACCAGCTCAATTACACCCTCTACCTTGTCGCAAGGACAGAGGGCTTTCTGTATCCTGGGGGCTTGCCTTGGTGTACCAGAAGAATCGAATCCCACCTGGGCTTGGAGAATGAGTGCAAGGATTTATTGAGTGGATGTAGCTCTC... | CTCACTTTCTCAGTGCGCCACTGCTCAAACCTCTAGGGGAGCATACAGACGGGCAGGTTGTGGGGCTCTGACCTCACCGGCAGTGTCTAGAGGTGGATGTTTACAGCTCCTGAAGCTCCAGTGGGCGTGGGTTATGGCCTTCTTTTAGTTTTGCCCTCTATAGTCAGCTTGTGTTAACCAGCTCAATTACACCCTCTACCTTGTCGCAAGGACAGAGGGCTTTCTGTATCCTGGGGGCTTGCCTTGGTGTACCAGAAGAATCGAATCCCACCTGGGCTTGGAGAATGAGTGCAAGGATTTATTGAGTGGATGTAGCTCTC... |
Task1_train_5716 | Chromosome 2 houses a mutation in gene UGT1A, UGT1A5, UGT1A7, UGT1A8, UGT1A9, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A6 (UDP glucuronosyltransferase family 1 member A complex locus| UDP glucuronosyltransferase family 1 member A5| UDP glucuronosyltransferase family 1 member A7| UDP glucuronosyltransferase family 1 member ... | Pathogenic; Crigler-Najjar syndrome | AGAAGGGGATGGAATGGGAAGGGTTTCCCCTGGAGTCAGACCGCTCAGTGGCCCGGGCTCGGTGGCCCGGGCTCGGTGGCCTGGGCTCTCCTCCGACTGCCTCAGCCAAACTCCGCGTTGTTCTGCTGGTCAGTGGCCTGCCGGTGCCTGTTGGTGAGTTCTTCTCAATGTCCAGCTGTCCTTGCGTCCCTCCGCTGATGTGCTCCTCCCGATGTCCAGCTACCTGTGTGTCTGCCTGCTAGGGTCTTGGGGTTTTTATAGGCACATGATGGGGGCGTGGCAGGCCAGGGTGGTTTTGGGAAATGAAACATTTAGGCAGG... | AGAAGGGGATGGAATGGGAAGGGTTTCCCCTGGAGTCAGACCGCTCAGTGGCCCGGGCTCGGTGGCCCGGGCTCGGTGGCCTGGGCTCTCCTCCGACTGCCTCAGCCAAACTCCGCGTTGTTCTGCTGGTCAGTGGCCTGCCGGTGCCTGTTGGTGAGTTCTTCTCAATGTCCAGCTGTCCTTGCGTCCCTCCGCTGATGTGCTCCTCCCGATGTCCAGCTACCTGTGTGTCTGCCTGCTAGGGTCTTGGGGTTTTTATAGGCACATGATGGGGGCGTGGCAGGCCAGGGTGGTTTTGGGAAATGAAACATTTAGGCAGG... |
Task1_train_5717 | The gene UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 (UDP glucuronosyltransferase family 1 member A complex locus| UDP glucuronosyltransferase family 1 member A1| UDP glucuronosyltransferase family 1 member A10| UDP glucuronosyltransferase family 1 member A3| UDP glucuronosyltransfera... | Pathogenic; not specified | GAGTCAGACCGCTCAGTGGCCCGGGCTCGGTGGCCCGGGCTCGGTGGCCTGGGCTCTCCTCCGACTGCCTCAGCCAAACTCCGCGTTGTTCTGCTGGTCAGTGGCCTGCCGGTGCCTGTTGGTGAGTTCTTCTCAATGTCCAGCTGTCCTTGCGTCCCTCCGCTGATGTGCTCCTCCCGATGTCCAGCTACCTGTGTGTCTGCCTGCTAGGGTCTTGGGGTTTTTATAGGCACATGATGGGGGCGTGGCAGGCCAGGGTGGTTTTGGGAAATGAAACATTTAGGCAGGAAAACAAAAATGCCTGTCCTCACCTAGGTCCA... | GAGTCAGACCGCTCAGTGGCCCGGGCTCGGTGGCCCGGGCTCGGTGGCCTGGGCTCTCCTCCGACTGCCTCAGCCAAACTCCGCGTTGTTCTGCTGGTCAGTGGCCTGCCGGTGCCTGTTGGTGAGTTCTTCTCAATGTCCAGCTGTCCTTGCGTCCCTCCGCTGATGTGCTCCTCCCGATGTCCAGCTACCTGTGTGTCTGCCTGCTAGGGTCTTGGGGTTTTTATAGGCACATGATGGGGGCGTGGCAGGCCAGGGTGGTTTTGGGAAATGAAACATTTAGGCAGGAAAACAAAAATGCCTGTCCTCACCTAGGTCCA... |
Task1_train_5718 | Here is a mutation in UGT1A3, UGT1A, UGT1A1, UGT1A10, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 (UDP glucuronosyltransferase family 1 member A3| UDP glucuronosyltransferase family 1 member A complex locus| UDP glucuronosyltransferase family 1 member A1| UDP glucuronosyltransferase family 1 member A10| UDP glucuron... | Pathogenic; Crigler-Najjar syndrome | GGTGGCCCGGGCTCGGTGGCCTGGGCTCTCCTCCGACTGCCTCAGCCAAACTCCGCGTTGTTCTGCTGGTCAGTGGCCTGCCGGTGCCTGTTGGTGAGTTCTTCTCAATGTCCAGCTGTCCTTGCGTCCCTCCGCTGATGTGCTCCTCCCGATGTCCAGCTACCTGTGTGTCTGCCTGCTAGGGTCTTGGGGTTTTTATAGGCACATGATGGGGGCGTGGCAGGCCAGGGTGGTTTTGGGAAATGAAACATTTAGGCAGGAAAACAAAAATGCCTGTCCTCACCTAGGTCCATGGGCACAGGTCTGGGGGTGGAGCCCTC... | GGTGGCCCGGGCTCGGTGGCCTGGGCTCTCCTCCGACTGCCTCAGCCAAACTCCGCGTTGTTCTGCTGGTCAGTGGCCTGCCGGTGCCTGTTGGTGAGTTCTTCTCAATGTCCAGCTGTCCTTGCGTCCCTCCGCTGATGTGCTCCTCCCGATGTCCAGCTACCTGTGTGTCTGCCTGCTAGGGTCTTGGGGTTTTTATAGGCACATGATGGGGGCGTGGCAGGCCAGGGTGGTTTTGGGAAATGAAACATTTAGGCAGGAAAACAAAAATGCCTGTCCTCACCTAGGTCCATGGGCACAGGTCTGGGGGTGGAGCCCTC... |
Task1_train_5719 | This is a variant in UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 (UDP glucuronosyltransferase family 1 member A complex locus| UDP glucuronosyltransferase family 1 member A1| UDP glucuronosyltransferase family 1 member A10| UDP glucuronosyltransferase family 1 member A3| UDP glucurono... | Pathogenic; not provided | AAAATTTTCAAACATCAGTTTATGCTGACAACCAGGCCATAATAGGTGCTCAATTACTATTGAATGAATGAATGAAAGTTCTGGCCAGGTACGGTGGCTCATGCCTGTAGTCCCAACACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTTAGGAGTTCGAAACCAACCTGACCAACATGAAGAAACCTTATCTCTACCAAAAAAATATAAAAAAATTACCCAGGCATGGTGGTGTATGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGCAGGAAAATCACTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCTGAG... | AAAATTTTCAAACATCAGTTTATGCTGACAACCAGGCCATAATAGGTGCTCAATTACTATTGAATGAATGAATGAAAGTTCTGGCCAGGTACGGTGGCTCATGCCTGTAGTCCCAACACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTTAGGAGTTCGAAACCAACCTGACCAACATGAAGAAACCTTATCTCTACCAAAAAAATATAAAAAAATTACCCAGGCATGGTGGTGTATGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGCAGGAAAATCACTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCTGAG... |
Task1_train_5720 | Here is a genetic alteration in ACKR3 (atypical chemokine receptor 3) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Oculomotor-abducens synkinesis | TGACCCTTGTCCTTGATCCTCCAGGAAATTCTCATATGTAACCTGGAATCCACTTTAAATGAACTCGGTAAATAATGTCTTGACTCTAGGCCAGTCATTACCTGGGACAGGTGAGGGGGAAGGGCAACCACCTGACTATGTCACTGTCAACAGTGCATCCTTGGGCTGAGGTTTTCATTTTACAGTGGGGTTCAGGCAGGGCTAATTGCTGACCCAGGACTGTGGCCTGGAGGGATTTCAGGGCCTTCCCATGGGCGGACTGACAGTAGAAGACAGCCCCTGTCAGTCTATCTGAAGAAATCAGTGCCAGATAACAATGG... | TGACCCTTGTCCTTGATCCTCCAGGAAATTCTCATATGTAACCTGGAATCCACTTTAAATGAACTCGGTAAATAATGTCTTGACTCTAGGCCAGTCATTACCTGGGACAGGTGAGGGGGAAGGGCAACCACCTGACTATGTCACTGTCAACAGTGCATCCTTGGGCTGAGGTTTTCATTTTACAGTGGGGTTCAGGCAGGGCTAATTGCTGACCCAGGACTGTGGCCTGGAGGGATTTCAGGGCCTTCCCATGGGCGGACTGACAGTAGAAGACAGCCCCTGTCAGTCTATCTGAAGAAATCAGTGCCAGATAACAATGG... |
Task1_train_5721 | This variant affects gene LOC122889011, COL6A3 (Sharpr-MPRA regulatory region 1020| collagen type VI alpha 3 chain) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Bethlem myopathy 1A | CCCAAAGCCCTAATGGCACTCACATTCTTCCCAGTTTCTCCAGGTCCTCCAGGTACTCCATCTCTCCCTGGGACACCCTGGTGTGGGGAAAATTAGCATGAGATTCTCATCTGCAGAGAAGAATGTCTAGCTCTGAAATGCTGCACAAGACATTGCAGGGAAAGGGGTCGATTCACAGAGGAAGAGCCCGTCTGCAGGACAGTTGCACACTTTGCAGGATGCACCGGACTTCAGTACACTCCCACCTCTACAAGCCTTTGGCTTAACAAGCACCTTCCGTAAATATCTAAGAGGCACAGATTCTGCTGAGAAGCCCCACT... | CCCAAAGCCCTAATGGCACTCACATTCTTCCCAGTTTCTCCAGGTCCTCCAGGTACTCCATCTCTCCCTGGGACACCCTGGTGTGGGGAAAATTAGCATGAGATTCTCATCTGCAGAGAAGAATGTCTAGCTCTGAAATGCTGCACAAGACATTGCAGGGAAAGGGGTCGATTCACAGAGGAAGAGCCCGTCTGCAGGACAGTTGCACACTTTGCAGGATGCACCGGACTTCAGTACACTCCCACCTCTACAAGCCTTTGGCTTAACAAGCACCTTCCGTAAATATCTAAGAGGCACAGATTCTGCTGAGAAGCCCCACT... |
Task1_train_5722 | Here is a variant affecting COL6A3 (collagen type VI alpha 3 chain) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Bethlem myopathy 1A | CAAACAGGTGCAATCGTTCTTCCCCAGGGAGGAGGATGCCCCAGGCTCACTCCTGCTTATCCTTGGCCACAGAGGCAGGATGGACTGGAAGAAGAGGCTAGCTTGTACTGCTCATTTGCTTAAACGTTTTACAGAGACACAAAATGAGAAAAGCTGCAAACTCTTCTCTTTTCCAAAAGCAAATTTGAAGTGCCCTGATACCACATTTTTGGAAACTTCTCAGATATTTGTATAACAGGACTTGCAAATGATTATCTGGTTAGCAAGAGAACCAACACATCTCCCCAAACCCCCAAACTGCAAGAAAAAGACAAAGCACA... | CAAACAGGTGCAATCGTTCTTCCCCAGGGAGGAGGATGCCCCAGGCTCACTCCTGCTTATCCTTGGCCACAGAGGCAGGATGGACTGGAAGAAGAGGCTAGCTTGTACTGCTCATTTGCTTAAACGTTTTACAGAGACACAAAATGAGAAAAGCTGCAAACTCTTCTCTTTTCCAAAAGCAAATTTGAAGTGCCCTGATACCACATTTTTGGAAACTTCTCAGATATTTGTATAACAGGACTTGCAAATGATTATCTGGTTAGCAAGAGAACCAACACATCTCCCCAAACCCCCAAACTGCAAGAAAAAGACAAAGCACA... |
Task1_train_5723 | This alteration in COL6A3 (collagen type VI alpha 3 chain) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Bethlem myopathy 1A | GCAATCGTTCTTCCCCAGGGAGGAGGATGCCCCAGGCTCACTCCTGCTTATCCTTGGCCACAGAGGCAGGATGGACTGGAAGAAGAGGCTAGCTTGTACTGCTCATTTGCTTAAACGTTTTACAGAGACACAAAATGAGAAAAGCTGCAAACTCTTCTCTTTTCCAAAAGCAAATTTGAAGTGCCCTGATACCACATTTTTGGAAACTTCTCAGATATTTGTATAACAGGACTTGCAAATGATTATCTGGTTAGCAAGAGAACCAACACATCTCCCCAAACCCCCAAACTGCAAGAAAAAGACAAAGCACATATTTTATC... | GCAATCGTTCTTCCCCAGGGAGGAGGATGCCCCAGGCTCACTCCTGCTTATCCTTGGCCACAGAGGCAGGATGGACTGGAAGAAGAGGCTAGCTTGTACTGCTCATTTGCTTAAACGTTTTACAGAGACACAAAATGAGAAAAGCTGCAAACTCTTCTCTTTTCCAAAAGCAAATTTGAAGTGCCCTGATACCACATTTTTGGAAACTTCTCAGATATTTGTATAACAGGACTTGCAAATGATTATCTGGTTAGCAAGAGAACCAACACATCTCCCCAAACCCCCAAACTGCAAGAAAAAGACAAAGCACATATTTTATC... |
Task1_train_5724 | This mutation occurs in COL6A3 (collagen type VI alpha 3 chain) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Bethlem myopathy 1A | TTCCCCAGGGAGGAGGATGCCCCAGGCTCACTCCTGCTTATCCTTGGCCACAGAGGCAGGATGGACTGGAAGAAGAGGCTAGCTTGTACTGCTCATTTGCTTAAACGTTTTACAGAGACACAAAATGAGAAAAGCTGCAAACTCTTCTCTTTTCCAAAAGCAAATTTGAAGTGCCCTGATACCACATTTTTGGAAACTTCTCAGATATTTGTATAACAGGACTTGCAAATGATTATCTGGTTAGCAAGAGAACCAACACATCTCCCCAAACCCCCAAACTGCAAGAAAAAGACAAAGCACATATTTTATCAACGTGTTTT... | TTCCCCAGGGAGGAGGATGCCCCAGGCTCACTCCTGCTTATCCTTGGCCACAGAGGCAGGATGGACTGGAAGAAGAGGCTAGCTTGTACTGCTCATTTGCTTAAACGTTTTACAGAGACACAAAATGAGAAAAGCTGCAAACTCTTCTCTTTTCCAAAAGCAAATTTGAAGTGCCCTGATACCACATTTTTGGAAACTTCTCAGATATTTGTATAACAGGACTTGCAAATGATTATCTGGTTAGCAAGAGAACCAACACATCTCCCCAAACCCCCAAACTGCAAGAAAAAGACAAAGCACATATTTTATCAACGTGTTTT... |
Task1_train_5725 | A genetic alteration is present in COL6A3 (collagen type VI alpha 3 chain) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | AAGGTCACACCTGCTGCAATTTCTATCACAGACTGAGTTGTTAGTTTCTGGAATCTTCAGAACCAAAAGCAGTTTGGACTTAGAGTAAAATCACTTACATCTTCACCATCCAGACCATCCAGTCCAATTTCTCCTACTTCGCCCTAAGAGGGAATAAGGCGGACAGGTAAGTATAGAAAGCTATTCTGGCAAAGGAAGAAATGAGAAATACTGGGAGAGTTTTCCATTTGTAAAACAAAACCAAGCTTGCATACCTTCTCTCCTGGGAATCCCCGAGAGCCCTAGAAGGCAAGGCGATAGGGGAAGCATTAGCTTTTCCT... | AAGGTCACACCTGCTGCAATTTCTATCACAGACTGAGTTGTTAGTTTCTGGAATCTTCAGAACCAAAAGCAGTTTGGACTTAGAGTAAAATCACTTACATCTTCACCATCCAGACCATCCAGTCCAATTTCTCCTACTTCGCCCTAAGAGGGAATAAGGCGGACAGGTAAGTATAGAAAGCTATTCTGGCAAAGGAAGAAATGAGAAATACTGGGAGAGTTTTCCATTTGTAAAACAAAACCAAGCTTGCATACCTTCTCTCCTGGGAATCCCCGAGAGCCCTAGAAGGCAAGGCGATAGGGGAAGCATTAGCTTTTCCT... |
Task1_train_5726 | Located on Chromosome 2, this mutation impacts COL6A3 (collagen type VI alpha 3 chain). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not provided | ATTTCTATCACAGACTGAGTTGTTAGTTTCTGGAATCTTCAGAACCAAAAGCAGTTTGGACTTAGAGTAAAATCACTTACATCTTCACCATCCAGACCATCCAGTCCAATTTCTCCTACTTCGCCCTAAGAGGGAATAAGGCGGACAGGTAAGTATAGAAAGCTATTCTGGCAAAGGAAGAAATGAGAAATACTGGGAGAGTTTTCCATTTGTAAAACAAAACCAAGCTTGCATACCTTCTCTCCTGGGAATCCCCGAGAGCCCTAGAAGGCAAGGCGATAGGGGAAGCATTAGCTTTTCCTGCAGGGCTGGTCCCTCGG... | ATTTCTATCACAGACTGAGTTGTTAGTTTCTGGAATCTTCAGAACCAAAAGCAGTTTGGACTTAGAGTAAAATCACTTACATCTTCACCATCCAGACCATCCAGTCCAATTTCTCCTACTTCGCCCTAAGAGGGAATAAGGCGGACAGGTAAGTATAGAAAGCTATTCTGGCAAAGGAAGAAATGAGAAATACTGGGAGAGTTTTCCATTTGTAAAACAAAACCAAGCTTGCATACCTTCTCTCCTGGGAATCCCCGAGAGCCCTAGAAGGCAAGGCGATAGGGGAAGCATTAGCTTTTCCTGCAGGGCTGGTCCCTCGG... |
Task1_train_5727 | Consider a variant on Chromosome 2 in gene COL6A3 (collagen type VI alpha 3 chain). Determine its clinical classification and disease relevance. | Pathogenic; Bethlem myopathy 1A | TCAAACTTCAGCAAACAGAGAAGCAAGTTCACCAGCCTTCAACCCACCTGCTGTCCTCTCACTCCACTCCCTTCCCTGACTGCTCCCACGGTCCAGGGCCGGGGCCGTGGGCACCAGCCTACCCTCCGCCCTGGCCCATGTTCTCTCCTTGTGAGGGTTTCCTGGCTTCTTCATGTTTCCACAGGAAACTATTTCTCCATTCTCAGGCTCCCCACCAGCTGCAGCCCCTGCTCCTGAACCCACCCTGCTCAGAACTGCCTTCCAATGAGAGGTCACGGGCTGCTGAATGCTGAGGTCAAGAAGCCTGGACCAGCGCCTCC... | TCAAACTTCAGCAAACAGAGAAGCAAGTTCACCAGCCTTCAACCCACCTGCTGTCCTCTCACTCCACTCCCTTCCCTGACTGCTCCCACGGTCCAGGGCCGGGGCCGTGGGCACCAGCCTACCCTCCGCCCTGGCCCATGTTCTCTCCTTGTGAGGGTTTCCTGGCTTCTTCATGTTTCCACAGGAAACTATTTCTCCATTCTCAGGCTCCCCACCAGCTGCAGCCCCTGCTCCTGAACCCACCCTGCTCAGAACTGCCTTCCAATGAGAGGTCACGGGCTGCTGAATGCTGAGGTCAAGAAGCCTGGACCAGCGCCTCC... |
Task1_train_5728 | This mutation is located in gene COL6A3 (collagen type VI alpha 3 chain) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Bethlem myopathy 1C | AATTGTGTCCCCTCAAAATTTGTATGTTAAGTCCTAAACCCCAGTACCGTAAGAATGGGACTGTATTTGGAGATAGGGTCTTTAAAGAGGTAATTAAGGTTAATGAGATCTTTAGAGTGAACCTTAATCTAGTATGACTGATGTCCTTTTAGAAGAGGAGATTTGGACACAGACATGCACAGAGAGAAAGCCATGTGGAGACACAGGGAGAAGACCCCTGCCTACAAGCCAAGCAGAGAAGACTCAGGAGAAACAGCCCTGCCGACACCTCGAGGATGTCAAGCCTCCAAGACTGTGAGAAAATAAATGTCTGTTCCAAA... | AATTGTGTCCCCTCAAAATTTGTATGTTAAGTCCTAAACCCCAGTACCGTAAGAATGGGACTGTATTTGGAGATAGGGTCTTTAAAGAGGTAATTAAGGTTAATGAGATCTTTAGAGTGAACCTTAATCTAGTATGACTGATGTCCTTTTAGAAGAGGAGATTTGGACACAGACATGCACAGAGAGAAAGCCATGTGGAGACACAGGGAGAAGACCCCTGCCTACAAGCCAAGCAGAGAAGACTCAGGAGAAACAGCCCTGCCGACACCTCGAGGATGTCAAGCCTCCAAGACTGTGAGAAAATAAATGTCTGTTCCAAA... |
Task1_train_5729 | The gene COL6A3 (collagen type VI alpha 3 chain) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | TGTGTCCCCTCAAAATTTGTATGTTAAGTCCTAAACCCCAGTACCGTAAGAATGGGACTGTATTTGGAGATAGGGTCTTTAAAGAGGTAATTAAGGTTAATGAGATCTTTAGAGTGAACCTTAATCTAGTATGACTGATGTCCTTTTAGAAGAGGAGATTTGGACACAGACATGCACAGAGAGAAAGCCATGTGGAGACACAGGGAGAAGACCCCTGCCTACAAGCCAAGCAGAGAAGACTCAGGAGAAACAGCCCTGCCGACACCTCGAGGATGTCAAGCCTCCAAGACTGTGAGAAAATAAATGTCTGTTCCAAAAGC... | TGTGTCCCCTCAAAATTTGTATGTTAAGTCCTAAACCCCAGTACCGTAAGAATGGGACTGTATTTGGAGATAGGGTCTTTAAAGAGGTAATTAAGGTTAATGAGATCTTTAGAGTGAACCTTAATCTAGTATGACTGATGTCCTTTTAGAAGAGGAGATTTGGACACAGACATGCACAGAGAGAAAGCCATGTGGAGACACAGGGAGAAGACCCCTGCCTACAAGCCAAGCAGAGAAGACTCAGGAGAAACAGCCCTGCCGACACCTCGAGGATGTCAAGCCTCCAAGACTGTGAGAAAATAAATGTCTGTTCCAAAAGC... |
Task1_train_5730 | Here is a mutation in MLPH (melanophilin) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Griscelli syndrome type 3 | AGCTGCAAGCACAGAAAAGCACCTGCCATGTGCTGGGAACGGACAGAGGTGCTATTCTTGTGGAGCTTAACAATAACTAATGAGACATCACCAACTGTTAAGGGGTATAAAGAAACGTTAAAGGGATGGGGACAGGTGAAGGAGTAAAAACCACAGGATGATCAGGGAAGTCCTCTGTGGGGAGCGTGCACAGTTTTGCAGTGTCCCAGTGTGCATGCATTGGTGGTGAAGTTCTCCCTGGTACAATTGTTCCTCCAATTTTATACCCAGCAGTAATGTCCACATCAATATAAGCTGTGAGGCCTGTGTGATATTGCCAT... | AGCTGCAAGCACAGAAAAGCACCTGCCATGTGCTGGGAACGGACAGAGGTGCTATTCTTGTGGAGCTTAACAATAACTAATGAGACATCACCAACTGTTAAGGGGTATAAAGAAACGTTAAAGGGATGGGGACAGGTGAAGGAGTAAAAACCACAGGATGATCAGGGAAGTCCTCTGTGGGGAGCGTGCACAGTTTTGCAGTGTCCCAGTGTGCATGCATTGGTGGTGAAGTTCTCCCTGGTACAATTGTTCCTCCAATTTTATACCCAGCAGTAATGTCCACATCAATATAAGCTGTGAGGCCTGTGTGATATTGCCAT... |
Task1_train_5731 | This is a variant in PER2 (period circadian regulator 2), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Advanced sleep phase syndrome 1 | TGGCTCTGATCCCTGTGCCAGCGTCCCAGGGGGAAGGGAAGAGGCCCCATCTCTAACAAGTGTCTGGGGGTATGGGAAGGAACTGGGGGATCAGGAGCCAGACTTCTGGGCCAGGAAAGGGGTGAAGAAGCTCATCTATTTTACTTCATCCCTTGACCTTCAACCCCCCAAGTGGCACCTGGCCTACACAGCAGCTTCCCACACCATGACCATGGACTCTGCCTGACTCTGGAGTCCAAAGCCCAGCCCTGAGGCTGGCCCAGTCAGGAGGGTGCATCTCCTGGGGAGAAGGGCACCAGAAATGGTACATCCCTCCTTCC... | TGGCTCTGATCCCTGTGCCAGCGTCCCAGGGGGAAGGGAAGAGGCCCCATCTCTAACAAGTGTCTGGGGGTATGGGAAGGAACTGGGGGATCAGGAGCCAGACTTCTGGGCCAGGAAAGGGGTGAAGAAGCTCATCTATTTTACTTCATCCCTTGACCTTCAACCCCCCAAGTGGCACCTGGCCTACACAGCAGCTTCCCACACCATGACCATGGACTCTGCCTGACTCTGGAGTCCAAAGCCCAGCCCTGAGGCTGGCCCAGTCAGGAGGGTGCATCTCCTGGGGAGAAGGGCACCAGAAATGGTACATCCCTCCTTCC... |
Task1_train_5732 | The gene TRAF3IP1 (TRAF3 interacting protein 1) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Senior-Loken syndrome 9 | TCTTGCTCTGTTGCCCAGGCAGGAGTGCAGTGGTGCCATCTTGGCTCACTGCAAGCTCCAACCCCCGGGTTCAAGCGATTCTTGTGCCTCAGCCTTCCAAGTAGCTGGGGTTACAGGCACACACCACTACGCCCAGCTAATTTTTATATTTTTAGTAGAGACAGGCTTTCACCATTTTGGCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCTGCCTGCCTCAGGCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTACCCCTAGAATTCTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCACCCAG... | TCTTGCTCTGTTGCCCAGGCAGGAGTGCAGTGGTGCCATCTTGGCTCACTGCAAGCTCCAACCCCCGGGTTCAAGCGATTCTTGTGCCTCAGCCTTCCAAGTAGCTGGGGTTACAGGCACACACCACTACGCCCAGCTAATTTTTATATTTTTAGTAGAGACAGGCTTTCACCATTTTGGCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCTGCCTGCCTCAGGCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTACCCCTAGAATTCTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCACCCAG... |
Task1_train_5733 | This gene mutation involves TRAF3IP1 (TRAF3 interacting protein 1) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Senior-Loken syndrome 9 | GTGCCCTGTGGAGGAGCAGGTTGGACTTGTATTGAGAGTGTAATTAATACAGTTTTTCACATACCTAGTGGGTGGTTGGCTGGGGGCTAACCTTAAATGTGACCCAAATGGGAACAGGTAGGTTTCAGCCCCCTCAACAGCAGTGGGTAGTGGAGGTGCATAGTGGTATCAGGCCGACTCCTAGGAGGCCCCCCCAGTGCAGGTCCAGCATGCAAACTTAGAGACTTGGAAGCAGATCTTGCCAGTACACTGGCCTCTGTCCCTAGGCTCCCCAGCTCCCCTTCCCGGGTCCTTTATGTTTCTCATCTTTCTAAAAAGCA... | GTGCCCTGTGGAGGAGCAGGTTGGACTTGTATTGAGAGTGTAATTAATACAGTTTTTCACATACCTAGTGGGTGGTTGGCTGGGGGCTAACCTTAAATGTGACCCAAATGGGAACAGGTAGGTTTCAGCCCCCTCAACAGCAGTGGGTAGTGGAGGTGCATAGTGGTATCAGGCCGACTCCTAGGAGGCCCCCCCAGTGCAGGTCCAGCATGCAAACTTAGAGACTTGGAAGCAGATCTTGCCAGTACACTGGCCTCTGTCCCTAGGCTCCCCAGCTCCCCTTCCCGGGTCCTTTATGTTTCTCATCTTTCTAAAAAGCA... |
Task1_train_5734 | The gene TRAF3IP1 (TRAF3 interacting protein 1) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Senior-Loken syndrome 9 | TGCCCTGTGGAGGAGCAGGTTGGACTTGTATTGAGAGTGTAATTAATACAGTTTTTCACATACCTAGTGGGTGGTTGGCTGGGGGCTAACCTTAAATGTGACCCAAATGGGAACAGGTAGGTTTCAGCCCCCTCAACAGCAGTGGGTAGTGGAGGTGCATAGTGGTATCAGGCCGACTCCTAGGAGGCCCCCCCAGTGCAGGTCCAGCATGCAAACTTAGAGACTTGGAAGCAGATCTTGCCAGTACACTGGCCTCTGTCCCTAGGCTCCCCAGCTCCCCTTCCCGGGTCCTTTATGTTTCTCATCTTTCTAAAAAGCAC... | TGCCCTGTGGAGGAGCAGGTTGGACTTGTATTGAGAGTGTAATTAATACAGTTTTTCACATACCTAGTGGGTGGTTGGCTGGGGGCTAACCTTAAATGTGACCCAAATGGGAACAGGTAGGTTTCAGCCCCCTCAACAGCAGTGGGTAGTGGAGGTGCATAGTGGTATCAGGCCGACTCCTAGGAGGCCCCCCCAGTGCAGGTCCAGCATGCAAACTTAGAGACTTGGAAGCAGATCTTGCCAGTACACTGGCCTCTGTCCCTAGGCTCCCCAGCTCCCCTTCCCGGGTCCTTTATGTTTCTCATCTTTCTAAAAAGCAC... |
Task1_train_5735 | This is a variant in TWIST2 (twist family bHLH transcription factor 2), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Ablepharon macrostomia syndrome | TTAAATTTTTATTTGAGAATTTTAAAGAAAGGGACCTGGAAAGCTATTTTGTTGGGCTAGAGGGGCCGTGGGCCTTCCCAGCGCGGAGGAAGGAGGGCGGTCAGGCCGGGTGGGGCTGGGTGCGGTGGCTCTGCAGAACCTTTAGGCACCGAACTGAAGCCGCGGGTCCGGTGCGCGGACACTGCGCAGGGCGCTGCTACCGACTCACATGCATGCGAGGGCCCGCTCCTAGGCGTTCTGCCTTCCTGGACGGATTGTTGGTAAAACGTCCCCTAGAACGGCCGGAGCCAGGGCCCTCGGACAGGGGCGCGAAGGGCCCG... | TTAAATTTTTATTTGAGAATTTTAAAGAAAGGGACCTGGAAAGCTATTTTGTTGGGCTAGAGGGGCCGTGGGCCTTCCCAGCGCGGAGGAAGGAGGGCGGTCAGGCCGGGTGGGGCTGGGTGCGGTGGCTCTGCAGAACCTTTAGGCACCGAACTGAAGCCGCGGGTCCGGTGCGCGGACACTGCGCAGGGCGCTGCTACCGACTCACATGCATGCGAGGGCCCGCTCCTAGGCGTTCTGCCTTCCTGGACGGATTGTTGGTAAAACGTCCCCTAGAACGGCCGGAGCCAGGGCCCTCGGACAGGGGCGCGAAGGGCCCG... |
Task1_train_5736 | This sequence variant lies in TWIST2 (twist family bHLH transcription factor 2) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Inborn genetic diseases | TTAAATTTTTATTTGAGAATTTTAAAGAAAGGGACCTGGAAAGCTATTTTGTTGGGCTAGAGGGGCCGTGGGCCTTCCCAGCGCGGAGGAAGGAGGGCGGTCAGGCCGGGTGGGGCTGGGTGCGGTGGCTCTGCAGAACCTTTAGGCACCGAACTGAAGCCGCGGGTCCGGTGCGCGGACACTGCGCAGGGCGCTGCTACCGACTCACATGCATGCGAGGGCCCGCTCCTAGGCGTTCTGCCTTCCTGGACGGATTGTTGGTAAAACGTCCCCTAGAACGGCCGGAGCCAGGGCCCTCGGACAGGGGCGCGAAGGGCCCG... | TTAAATTTTTATTTGAGAATTTTAAAGAAAGGGACCTGGAAAGCTATTTTGTTGGGCTAGAGGGGCCGTGGGCCTTCCCAGCGCGGAGGAAGGAGGGCGGTCAGGCCGGGTGGGGCTGGGTGCGGTGGCTCTGCAGAACCTTTAGGCACCGAACTGAAGCCGCGGGTCCGGTGCGCGGACACTGCGCAGGGCGCTGCTACCGACTCACATGCATGCGAGGGCCCGCTCCTAGGCGTTCTGCCTTCCTGGACGGATTGTTGGTAAAACGTCCCCTAGAACGGCCGGAGCCAGGGCCCTCGGACAGGGGCGCGAAGGGCCCG... |
Task1_train_5737 | Gene TWIST2 (twist family bHLH transcription factor 2) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Barber-Say syndrome | TTAAATTTTTATTTGAGAATTTTAAAGAAAGGGACCTGGAAAGCTATTTTGTTGGGCTAGAGGGGCCGTGGGCCTTCCCAGCGCGGAGGAAGGAGGGCGGTCAGGCCGGGTGGGGCTGGGTGCGGTGGCTCTGCAGAACCTTTAGGCACCGAACTGAAGCCGCGGGTCCGGTGCGCGGACACTGCGCAGGGCGCTGCTACCGACTCACATGCATGCGAGGGCCCGCTCCTAGGCGTTCTGCCTTCCTGGACGGATTGTTGGTAAAACGTCCCCTAGAACGGCCGGAGCCAGGGCCCTCGGACAGGGGCGCGAAGGGCCCG... | TTAAATTTTTATTTGAGAATTTTAAAGAAAGGGACCTGGAAAGCTATTTTGTTGGGCTAGAGGGGCCGTGGGCCTTCCCAGCGCGGAGGAAGGAGGGCGGTCAGGCCGGGTGGGGCTGGGTGCGGTGGCTCTGCAGAACCTTTAGGCACCGAACTGAAGCCGCGGGTCCGGTGCGCGGACACTGCGCAGGGCGCTGCTACCGACTCACATGCATGCGAGGGCCCGCTCCTAGGCGTTCTGCCTTCCTGGACGGATTGTTGGTAAAACGTCCCCTAGAACGGCCGGAGCCAGGGCCCTCGGACAGGGGCGCGAAGGGCCCG... |
Task1_train_5738 | Chromosome 2 houses a mutation in gene TWIST2 (twist family bHLH transcription factor 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Barber-Say syndrome | TAAATTTTTATTTGAGAATTTTAAAGAAAGGGACCTGGAAAGCTATTTTGTTGGGCTAGAGGGGCCGTGGGCCTTCCCAGCGCGGAGGAAGGAGGGCGGTCAGGCCGGGTGGGGCTGGGTGCGGTGGCTCTGCAGAACCTTTAGGCACCGAACTGAAGCCGCGGGTCCGGTGCGCGGACACTGCGCAGGGCGCTGCTACCGACTCACATGCATGCGAGGGCCCGCTCCTAGGCGTTCTGCCTTCCTGGACGGATTGTTGGTAAAACGTCCCCTAGAACGGCCGGAGCCAGGGCCCTCGGACAGGGGCGCGAAGGGCCCGC... | TAAATTTTTATTTGAGAATTTTAAAGAAAGGGACCTGGAAAGCTATTTTGTTGGGCTAGAGGGGCCGTGGGCCTTCCCAGCGCGGAGGAAGGAGGGCGGTCAGGCCGGGTGGGGCTGGGTGCGGTGGCTCTGCAGAACCTTTAGGCACCGAACTGAAGCCGCGGGTCCGGTGCGCGGACACTGCGCAGGGCGCTGCTACCGACTCACATGCATGCGAGGGCCCGCTCCTAGGCGTTCTGCCTTCCTGGACGGATTGTTGGTAAAACGTCCCCTAGAACGGCCGGAGCCAGGGCCCTCGGACAGGGGCGCGAAGGGCCCGC... |
Task1_train_5739 | Assess the clinical impact of this variant on gene HDAC4 (histone deacetylase 4), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Neurodevelopmental disorder with central hypotonia and dysmorphic facies | CCACGCATGGCTCCTGGGTGAGCTCGGCACTGATCATGCCCTGTCACACATGACTCCTGGGTGAGCTTAGCACTGATCAAGCCCTGTCACACATGGCTCCTGGGTGAGCTCAGCATTGATCACGCCCTGTCACACATGACTCCTGGGTGAGCTCAGCACTGATCATGCCCTGTCACACATGACTCCTGGGTGAGCTCAGCACTGATCACGCCCTGCCGCATGGCTCCTGGGTGAGCTCAGCAATGATCGTGCCCTGTCACACATGACTCCTGGGTGAGCTCAGCACTGATCACGCCCTGTGACGCATGGCTCCTGGGTGA... | CCACGCATGGCTCCTGGGTGAGCTCGGCACTGATCATGCCCTGTCACACATGACTCCTGGGTGAGCTTAGCACTGATCAAGCCCTGTCACACATGGCTCCTGGGTGAGCTCAGCATTGATCACGCCCTGTCACACATGACTCCTGGGTGAGCTCAGCACTGATCATGCCCTGTCACACATGACTCCTGGGTGAGCTCAGCACTGATCACGCCCTGCCGCATGGCTCCTGGGTGAGCTCAGCAATGATCGTGCCCTGTCACACATGACTCCTGGGTGAGCTCAGCACTGATCACGCCCTGTGACGCATGGCTCCTGGGTGA... |
Task1_train_5740 | A sequence alteration has been identified in HDAC4 (histone deacetylase 4) on Chromosome 2. Is it disease-inducing or harmless? | Pathogenic; Neurodevelopmental disorder with central hypotonia and dysmorphic facies | ACGCATGGCTCCTGGGTGAGCTCGGCACTGATCATGCCCTGTCACACATGACTCCTGGGTGAGCTTAGCACTGATCAAGCCCTGTCACACATGGCTCCTGGGTGAGCTCAGCATTGATCACGCCCTGTCACACATGACTCCTGGGTGAGCTCAGCACTGATCATGCCCTGTCACACATGACTCCTGGGTGAGCTCAGCACTGATCACGCCCTGCCGCATGGCTCCTGGGTGAGCTCAGCAATGATCGTGCCCTGTCACACATGACTCCTGGGTGAGCTCAGCACTGATCACGCCCTGTGACGCATGGCTCCTGGGTGAGC... | ACGCATGGCTCCTGGGTGAGCTCGGCACTGATCATGCCCTGTCACACATGACTCCTGGGTGAGCTTAGCACTGATCAAGCCCTGTCACACATGGCTCCTGGGTGAGCTCAGCATTGATCACGCCCTGTCACACATGACTCCTGGGTGAGCTCAGCACTGATCATGCCCTGTCACACATGACTCCTGGGTGAGCTCAGCACTGATCACGCCCTGCCGCATGGCTCCTGGGTGAGCTCAGCAATGATCGTGCCCTGTCACACATGACTCCTGGGTGAGCTCAGCACTGATCACGCCCTGTGACGCATGGCTCCTGGGTGAGC... |
Task1_train_5741 | This variant impacts the gene HDAC4 (histone deacetylase 4) on Chromosome 2. Is the change likely to result in a pathogenic outcome? | Pathogenic; HDAC4-related disorder | CCCACCACTCACCGCGGACTTTGGTTTTGTTGATGGAATTTGATTAATAATAGCATCAGTCCCCAGAAAGGGAACCTGGAGGGCGATTTGTAAGAATCAGCCCACAGATTCTCTCCTGATACTACTGGGCACATCTTTCTGGAAAAAATACTGATCTCTAAATCCGTTCTTTCTGTCAAGCTTTAGGGCGCTCTCCAGGTGAAATCCAGGACCATTCTCAGTAGAAGCATCAGTAAGAACCACAGGCTCACACCCATGAAACAAAGCAGCAGAAGCTCTAGGTTCACTTTTCCCAATAAAGGTTTATGGCCCAAATGGAA... | CCCACCACTCACCGCGGACTTTGGTTTTGTTGATGGAATTTGATTAATAATAGCATCAGTCCCCAGAAAGGGAACCTGGAGGGCGATTTGTAAGAATCAGCCCACAGATTCTCTCCTGATACTACTGGGCACATCTTTCTGGAAAAAATACTGATCTCTAAATCCGTTCTTTCTGTCAAGCTTTAGGGCGCTCTCCAGGTGAAATCCAGGACCATTCTCAGTAGAAGCATCAGTAAGAACCACAGGCTCACACCCATGAAACAAAGCAGCAGAAGCTCTAGGTTCACTTTTCCCAATAAAGGTTTATGGCCCAAATGGAA... |
Task1_train_5742 | This is a variant in HDAC4 (histone deacetylase 4), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Intellectual disability, severe | CCCACCACTCACCGCGGACTTTGGTTTTGTTGATGGAATTTGATTAATAATAGCATCAGTCCCCAGAAAGGGAACCTGGAGGGCGATTTGTAAGAATCAGCCCACAGATTCTCTCCTGATACTACTGGGCACATCTTTCTGGAAAAAATACTGATCTCTAAATCCGTTCTTTCTGTCAAGCTTTAGGGCGCTCTCCAGGTGAAATCCAGGACCATTCTCAGTAGAAGCATCAGTAAGAACCACAGGCTCACACCCATGAAACAAAGCAGCAGAAGCTCTAGGTTCACTTTTCCCAATAAAGGTTTATGGCCCAAATGGAA... | CCCACCACTCACCGCGGACTTTGGTTTTGTTGATGGAATTTGATTAATAATAGCATCAGTCCCCAGAAAGGGAACCTGGAGGGCGATTTGTAAGAATCAGCCCACAGATTCTCTCCTGATACTACTGGGCACATCTTTCTGGAAAAAATACTGATCTCTAAATCCGTTCTTTCTGTCAAGCTTTAGGGCGCTCTCCAGGTGAAATCCAGGACCATTCTCAGTAGAAGCATCAGTAAGAACCACAGGCTCACACCCATGAAACAAAGCAGCAGAAGCTCTAGGTTCACTTTTCCCAATAAAGGTTTATGGCCCAAATGGAA... |
Task1_train_5743 | Here is a mutation in NDUFA10 (NADH:ubiquinone oxidoreductase subunit A10) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 22 | GTTTACATTTTGATCAGTGAACTTTTAGTGACATGTGCAGTGAGCCAGCTGTCCCTCTGGTCATCCTAGGAGACTACTGTATCACTCACATCCCATCAGGCAGAGAAAGAAGGTAAGCACCAACGGCCTAAGAACACCAACATCACAGGGCCAAGAACAGAGCTGCCATCTGTAGGCACCAACTTCCTAATTTACATCCAAACGTTGAGGAGAGGGAAGTTGAGTGCCCCGGCCATCCTTGTGCCTCCAGGCCCTCGAGAGGCAAAGTGTTGGTGCAGTCTGCACAGAGCATCCTGGGTAGAGGCAGGAAGCAGCACAGG... | GTTTACATTTTGATCAGTGAACTTTTAGTGACATGTGCAGTGAGCCAGCTGTCCCTCTGGTCATCCTAGGAGACTACTGTATCACTCACATCCCATCAGGCAGAGAAAGAAGGTAAGCACCAACGGCCTAAGAACACCAACATCACAGGGCCAAGAACAGAGCTGCCATCTGTAGGCACCAACTTCCTAATTTACATCCAAACGTTGAGGAGAGGGAAGTTGAGTGCCCCGGCCATCCTTGTGCCTCCAGGCCCTCGAGAGGCAAAGTGTTGGTGCAGTCTGCACAGAGCATCCTGGGTAGAGGCAGGAAGCAGCACAGG... |
Task1_train_5744 | Here is a variant affecting NDUFA10 (NADH:ubiquinone oxidoreductase subunit A10) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 22 | TCCTCAGAGCAGCCACCACTCACTTGGGGCAAGACATTCCTGTTTCCACATCGAGTCTTCATCCCTCTACTAAAACACAGGCTTCCCTCCCTGTGGCGCCCTTAGCTCCCAGAATGGGTCTGGCACACAGCAGACATGCACTAAATATTTAATGAATACGTTAACCCAGTTCCAATTTGCCCCAAGAATACTGAGATGGGAGCAAGCTGCACTTTTTTTTTCTAAATGGGAAATAGGTTACTATAGCACCAAAAAAAGCAAGGCTTTATTTAACAAGTAAAATGTTTCTTTTTCATTTTAAGAAATGAGTAGTCAGAAGA... | TCCTCAGAGCAGCCACCACTCACTTGGGGCAAGACATTCCTGTTTCCACATCGAGTCTTCATCCCTCTACTAAAACACAGGCTTCCCTCCCTGTGGCGCCCTTAGCTCCCAGAATGGGTCTGGCACACAGCAGACATGCACTAAATATTTAATGAATACGTTAACCCAGTTCCAATTTGCCCCAAGAATACTGAGATGGGAGCAAGCTGCACTTTTTTTTTCTAAATGGGAAATAGGTTACTATAGCACCAAAAAAAGCAAGGCTTTATTTAACAAGTAAAATGTTTCTTTTTCATTTTAAGAAATGAGTAGTCAGAAGA... |
Task1_train_5745 | A variant has been detected on Chromosome 2 in KIF1A (kinesin family member 1A). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hereditary spastic paraplegia 30 | AGACAGACAGAGGGAGGGAGAGAAAAAAGATGAAGATGGGAAAAAGTAAGAGATGGGGCCCAGAGAAGGCAAGAAACAGAAACCATCAACGAGGCACAGCAGCCCTGCCAGGCCCAGGACAAGCGCATGCAAGGCCTTCCTGCCACCCCTTGCCTACGATGGGACGGGGCCAGCAGTGGCGCGCACTTGCCCGCCTGCCCCCCAGGCCTGCCCTCCCCAGCAGCAGCATGGCACAGACCTAGGCACTCTGGAGCTCCCCTGCACCCCCTGCGCCAGGCTTCTTGCTTTCCCACAGCTGCACTCCAGGCCCCACTGCCAGG... | AGACAGACAGAGGGAGGGAGAGAAAAAAGATGAAGATGGGAAAAAGTAAGAGATGGGGCCCAGAGAAGGCAAGAAACAGAAACCATCAACGAGGCACAGCAGCCCTGCCAGGCCCAGGACAAGCGCATGCAAGGCCTTCCTGCCACCCCTTGCCTACGATGGGACGGGGCCAGCAGTGGCGCGCACTTGCCCGCCTGCCCCCCAGGCCTGCCCTCCCCAGCAGCAGCATGGCACAGACCTAGGCACTCTGGAGCTCCCCTGCACCCCCTGCGCCAGGCTTCTTGCTTTCCCACAGCTGCACTCCAGGCCCCACTGCCAGG... |
Task1_train_5746 | This sequence change occurs on Chromosome 2, altering KIF1A (kinesin family member 1A). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hereditary spastic paraplegia 30 | AGACAGACAGAGGGAGGGAGAGAAAAAAGATGAAGATGGGAAAAAGTAAGAGATGGGGCCCAGAGAAGGCAAGAAACAGAAACCATCAACGAGGCACAGCAGCCCTGCCAGGCCCAGGACAAGCGCATGCAAGGCCTTCCTGCCACCCCTTGCCTACGATGGGACGGGGCCAGCAGTGGCGCGCACTTGCCCGCCTGCCCCCCAGGCCTGCCCTCCCCAGCAGCAGCATGGCACAGACCTAGGCACTCTGGAGCTCCCCTGCACCCCCTGCGCCAGGCTTCTTGCTTTCCCACAGCTGCACTCCAGGCCCCACTGCCAGG... | AGACAGACAGAGGGAGGGAGAGAAAAAAGATGAAGATGGGAAAAAGTAAGAGATGGGGCCCAGAGAAGGCAAGAAACAGAAACCATCAACGAGGCACAGCAGCCCTGCCAGGCCCAGGACAAGCGCATGCAAGGCCTTCCTGCCACCCCTTGCCTACGATGGGACGGGGCCAGCAGTGGCGCGCACTTGCCCGCCTGCCCCCCAGGCCTGCCCTCCCCAGCAGCAGCATGGCACAGACCTAGGCACTCTGGAGCTCCCCTGCACCCCCTGCGCCAGGCTTCTTGCTTTCCCACAGCTGCACTCCAGGCCCCACTGCCAGG... |
Task1_train_5747 | Here is a genetic alteration in KIF1A (kinesin family member 1A) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Neuropathy, hereditary sensory, type 2C | AGACAGACAGAGGGAGGGAGAGAAAAAAGATGAAGATGGGAAAAAGTAAGAGATGGGGCCCAGAGAAGGCAAGAAACAGAAACCATCAACGAGGCACAGCAGCCCTGCCAGGCCCAGGACAAGCGCATGCAAGGCCTTCCTGCCACCCCTTGCCTACGATGGGACGGGGCCAGCAGTGGCGCGCACTTGCCCGCCTGCCCCCCAGGCCTGCCCTCCCCAGCAGCAGCATGGCACAGACCTAGGCACTCTGGAGCTCCCCTGCACCCCCTGCGCCAGGCTTCTTGCTTTCCCACAGCTGCACTCCAGGCCCCACTGCCAGG... | AGACAGACAGAGGGAGGGAGAGAAAAAAGATGAAGATGGGAAAAAGTAAGAGATGGGGCCCAGAGAAGGCAAGAAACAGAAACCATCAACGAGGCACAGCAGCCCTGCCAGGCCCAGGACAAGCGCATGCAAGGCCTTCCTGCCACCCCTTGCCTACGATGGGACGGGGCCAGCAGTGGCGCGCACTTGCCCGCCTGCCCCCCAGGCCTGCCCTCCCCAGCAGCAGCATGGCACAGACCTAGGCACTCTGGAGCTCCCCTGCACCCCCTGCGCCAGGCTTCTTGCTTTCCCACAGCTGCACTCCAGGCCCCACTGCCAGG... |
Task1_train_5748 | Located on Chromosome 2, this mutation impacts KIF1A (kinesin family member 1A). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Intellectual disability, autosomal dominant 9 | AGACAGACAGAGGGAGGGAGAGAAAAAAGATGAAGATGGGAAAAAGTAAGAGATGGGGCCCAGAGAAGGCAAGAAACAGAAACCATCAACGAGGCACAGCAGCCCTGCCAGGCCCAGGACAAGCGCATGCAAGGCCTTCCTGCCACCCCTTGCCTACGATGGGACGGGGCCAGCAGTGGCGCGCACTTGCCCGCCTGCCCCCCAGGCCTGCCCTCCCCAGCAGCAGCATGGCACAGACCTAGGCACTCTGGAGCTCCCCTGCACCCCCTGCGCCAGGCTTCTTGCTTTCCCACAGCTGCACTCCAGGCCCCACTGCCAGG... | AGACAGACAGAGGGAGGGAGAGAAAAAAGATGAAGATGGGAAAAAGTAAGAGATGGGGCCCAGAGAAGGCAAGAAACAGAAACCATCAACGAGGCACAGCAGCCCTGCCAGGCCCAGGACAAGCGCATGCAAGGCCTTCCTGCCACCCCTTGCCTACGATGGGACGGGGCCAGCAGTGGCGCGCACTTGCCCGCCTGCCCCCCAGGCCTGCCCTCCCCAGCAGCAGCATGGCACAGACCTAGGCACTCTGGAGCTCCCCTGCACCCCCTGCGCCAGGCTTCTTGCTTTCCCACAGCTGCACTCCAGGCCCCACTGCCAGG... |
Task1_train_5749 | This genomic variant is located on Chromosome 2, within the KIF1A (kinesin family member 1A) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Intellectual disability, autosomal dominant 9 | GCATTGCAGATGGAGGCCTGAGCCAAGAGCTGGGGACAGGACAGTCCCTCCAGCCCTCCTGGCCCTTTGGTGCTGATATCCTGACCTTCGCAGGCCTTTGGGTGCACAGGGGGTCAGAGGACCTGATCTCGGCCATGTTTAGCCTGAGAAGGCCTCAGCGACACCCTGACTCCCCCGTTGCTTTGGTTTCTCATGTAGACCATATGGGTGGGAAGGAGCCAGGAGTGTGGGCTCAGAGGCAGACAGAATCCCACATCTACGAGCAGGGCCCTGTGGCTGAGGGAGAGCAGTGCTTTCTGCCCCCCAAAAAGGAGAAGAAA... | GCATTGCAGATGGAGGCCTGAGCCAAGAGCTGGGGACAGGACAGTCCCTCCAGCCCTCCTGGCCCTTTGGTGCTGATATCCTGACCTTCGCAGGCCTTTGGGTGCACAGGGGGTCAGAGGACCTGATCTCGGCCATGTTTAGCCTGAGAAGGCCTCAGCGACACCCTGACTCCCCCGTTGCTTTGGTTTCTCATGTAGACCATATGGGTGGGAAGGAGCCAGGAGTGTGGGCTCAGAGGCAGACAGAATCCCACATCTACGAGCAGGGCCCTGTGGCTGAGGGAGAGCAGTGCTTTCTGCCCCCCAAAAAGGAGAAGAAA... |
Task1_train_5750 | A variant was discovered in gene KIF1A (kinesin family member 1A), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Hereditary spastic paraplegia 30 | GCATTGCAGATGGAGGCCTGAGCCAAGAGCTGGGGACAGGACAGTCCCTCCAGCCCTCCTGGCCCTTTGGTGCTGATATCCTGACCTTCGCAGGCCTTTGGGTGCACAGGGGGTCAGAGGACCTGATCTCGGCCATGTTTAGCCTGAGAAGGCCTCAGCGACACCCTGACTCCCCCGTTGCTTTGGTTTCTCATGTAGACCATATGGGTGGGAAGGAGCCAGGAGTGTGGGCTCAGAGGCAGACAGAATCCCACATCTACGAGCAGGGCCCTGTGGCTGAGGGAGAGCAGTGCTTTCTGCCCCCCAAAAAGGAGAAGAAA... | GCATTGCAGATGGAGGCCTGAGCCAAGAGCTGGGGACAGGACAGTCCCTCCAGCCCTCCTGGCCCTTTGGTGCTGATATCCTGACCTTCGCAGGCCTTTGGGTGCACAGGGGGTCAGAGGACCTGATCTCGGCCATGTTTAGCCTGAGAAGGCCTCAGCGACACCCTGACTCCCCCGTTGCTTTGGTTTCTCATGTAGACCATATGGGTGGGAAGGAGCCAGGAGTGTGGGCTCAGAGGCAGACAGAATCCCACATCTACGAGCAGGGCCCTGTGGCTGAGGGAGAGCAGTGCTTTCTGCCCCCCAAAAAGGAGAAGAAA... |
Task1_train_5751 | The following genetic variant occurs in KIF1A (kinesin family member 1A) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Neuropathy, hereditary sensory, type 2C | GCATTGCAGATGGAGGCCTGAGCCAAGAGCTGGGGACAGGACAGTCCCTCCAGCCCTCCTGGCCCTTTGGTGCTGATATCCTGACCTTCGCAGGCCTTTGGGTGCACAGGGGGTCAGAGGACCTGATCTCGGCCATGTTTAGCCTGAGAAGGCCTCAGCGACACCCTGACTCCCCCGTTGCTTTGGTTTCTCATGTAGACCATATGGGTGGGAAGGAGCCAGGAGTGTGGGCTCAGAGGCAGACAGAATCCCACATCTACGAGCAGGGCCCTGTGGCTGAGGGAGAGCAGTGCTTTCTGCCCCCCAAAAAGGAGAAGAAA... | GCATTGCAGATGGAGGCCTGAGCCAAGAGCTGGGGACAGGACAGTCCCTCCAGCCCTCCTGGCCCTTTGGTGCTGATATCCTGACCTTCGCAGGCCTTTGGGTGCACAGGGGGTCAGAGGACCTGATCTCGGCCATGTTTAGCCTGAGAAGGCCTCAGCGACACCCTGACTCCCCCGTTGCTTTGGTTTCTCATGTAGACCATATGGGTGGGAAGGAGCCAGGAGTGTGGGCTCAGAGGCAGACAGAATCCCACATCTACGAGCAGGGCCCTGTGGCTGAGGGAGAGCAGTGCTTTCTGCCCCCCAAAAAGGAGAAGAAA... |
Task1_train_5752 | Here is a variant affecting KIF1A (kinesin family member 1A) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Intellectual disability, autosomal dominant 9 | GCATTGCAGATGGAGGCCTGAGCCAAGAGCTGGGGACAGGACAGTCCCTCCAGCCCTCCTGGCCCTTTGGTGCTGATATCCTGACCTTCGCAGGCCTTTGGGTGCACAGGGGGTCAGAGGACCTGATCTCGGCCATGTTTAGCCTGAGAAGGCCTCAGCGACACCCTGACTCCCCCGTTGCTTTGGTTTCTCATGTAGACCATATGGGTGGGAAGGAGCCAGGAGTGTGGGCTCAGAGGCAGACAGAATCCCACATCTACGAGCAGGGCCCTGTGGCTGAGGGAGAGCAGTGCTTTCTGCCCCCCAAAAAGGAGAAGAAA... | GCATTGCAGATGGAGGCCTGAGCCAAGAGCTGGGGACAGGACAGTCCCTCCAGCCCTCCTGGCCCTTTGGTGCTGATATCCTGACCTTCGCAGGCCTTTGGGTGCACAGGGGGTCAGAGGACCTGATCTCGGCCATGTTTAGCCTGAGAAGGCCTCAGCGACACCCTGACTCCCCCGTTGCTTTGGTTTCTCATGTAGACCATATGGGTGGGAAGGAGCCAGGAGTGTGGGCTCAGAGGCAGACAGAATCCCACATCTACGAGCAGGGCCCTGTGGCTGAGGGAGAGCAGTGCTTTCTGCCCCCCAAAAAGGAGAAGAAA... |
Task1_train_5753 | This is a variant in KIF1A (kinesin family member 1A), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Hereditary spastic paraplegia 30 | TGAGCCAAGAGCTGGGGACAGGACAGTCCCTCCAGCCCTCCTGGCCCTTTGGTGCTGATATCCTGACCTTCGCAGGCCTTTGGGTGCACAGGGGGTCAGAGGACCTGATCTCGGCCATGTTTAGCCTGAGAAGGCCTCAGCGACACCCTGACTCCCCCGTTGCTTTGGTTTCTCATGTAGACCATATGGGTGGGAAGGAGCCAGGAGTGTGGGCTCAGAGGCAGACAGAATCCCACATCTACGAGCAGGGCCCTGTGGCTGAGGGAGAGCAGTGCTTTCTGCCCCCCAAAAAGGAGAAGAAAGCAGAGCAGGTACCCTGG... | TGAGCCAAGAGCTGGGGACAGGACAGTCCCTCCAGCCCTCCTGGCCCTTTGGTGCTGATATCCTGACCTTCGCAGGCCTTTGGGTGCACAGGGGGTCAGAGGACCTGATCTCGGCCATGTTTAGCCTGAGAAGGCCTCAGCGACACCCTGACTCCCCCGTTGCTTTGGTTTCTCATGTAGACCATATGGGTGGGAAGGAGCCAGGAGTGTGGGCTCAGAGGCAGACAGAATCCCACATCTACGAGCAGGGCCCTGTGGCTGAGGGAGAGCAGTGCTTTCTGCCCCCCAAAAAGGAGAAGAAAGCAGAGCAGGTACCCTGG... |
Task1_train_5754 | Consider a variant on Chromosome 2 in gene KIF1A (kinesin family member 1A). Determine its clinical classification and disease relevance. | Pathogenic; Hereditary spastic paraplegia 30 | TGGGGACAGGACAGTCCCTCCAGCCCTCCTGGCCCTTTGGTGCTGATATCCTGACCTTCGCAGGCCTTTGGGTGCACAGGGGGTCAGAGGACCTGATCTCGGCCATGTTTAGCCTGAGAAGGCCTCAGCGACACCCTGACTCCCCCGTTGCTTTGGTTTCTCATGTAGACCATATGGGTGGGAAGGAGCCAGGAGTGTGGGCTCAGAGGCAGACAGAATCCCACATCTACGAGCAGGGCCCTGTGGCTGAGGGAGAGCAGTGCTTTCTGCCCCCCAAAAAGGAGAAGAAAGCAGAGCAGGTACCCTGGGGTTCACCCCTC... | TGGGGACAGGACAGTCCCTCCAGCCCTCCTGGCCCTTTGGTGCTGATATCCTGACCTTCGCAGGCCTTTGGGTGCACAGGGGGTCAGAGGACCTGATCTCGGCCATGTTTAGCCTGAGAAGGCCTCAGCGACACCCTGACTCCCCCGTTGCTTTGGTTTCTCATGTAGACCATATGGGTGGGAAGGAGCCAGGAGTGTGGGCTCAGAGGCAGACAGAATCCCACATCTACGAGCAGGGCCCTGTGGCTGAGGGAGAGCAGTGCTTTCTGCCCCCCAAAAAGGAGAAGAAAGCAGAGCAGGTACCCTGGGGTTCACCCCTC... |
Task1_train_5755 | Given a variant located on Chromosome 2 and affecting KIF1A (kinesin family member 1A), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Neuropathy, hereditary sensory, type 2C | CATAAGACACACCTATGTCCCCTCTGCTATCTAAAAATCCCCAGTGGTTACCCCGGCCGGCAGGTGAGTGTAAACTGCTTCGCCCAGCAGGCACAGCTCTCCCAGTCTGGTGCCACGGGGCCCTGGGCTGCCTGCAGCCCCAAAGCACACCCCCAAAGGCTCCATGGAGGGAATAGAACAGGGCCTATGCAGGCCCAGGAGCCTCAGAACAGTCTCTTCCAGCCTCACAGAGTCCAGGGTATACCCCTCACAAAGAGTCGCCCCTGGTCACTGGTGCTTCCTAATTCAAGCACGAGAGGATCCATCCCCCAAGACCAGGG... | CATAAGACACACCTATGTCCCCTCTGCTATCTAAAAATCCCCAGTGGTTACCCCGGCCGGCAGGTGAGTGTAAACTGCTTCGCCCAGCAGGCACAGCTCTCCCAGTCTGGTGCCACGGGGCCCTGGGCTGCCTGCAGCCCCAAAGCACACCCCCAAAGGCTCCATGGAGGGAATAGAACAGGGCCTATGCAGGCCCAGGAGCCTCAGAACAGTCTCTTCCAGCCTCACAGAGTCCAGGGTATACCCCTCACAAAGAGTCGCCCCTGGTCACTGGTGCTTCCTAATTCAAGCACGAGAGGATCCATCCCCCAAGACCAGGG... |
Task1_train_5756 | Here is a variant affecting KIF1A (kinesin family member 1A) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Intellectual disability, autosomal dominant 9 | CATAAGACACACCTATGTCCCCTCTGCTATCTAAAAATCCCCAGTGGTTACCCCGGCCGGCAGGTGAGTGTAAACTGCTTCGCCCAGCAGGCACAGCTCTCCCAGTCTGGTGCCACGGGGCCCTGGGCTGCCTGCAGCCCCAAAGCACACCCCCAAAGGCTCCATGGAGGGAATAGAACAGGGCCTATGCAGGCCCAGGAGCCTCAGAACAGTCTCTTCCAGCCTCACAGAGTCCAGGGTATACCCCTCACAAAGAGTCGCCCCTGGTCACTGGTGCTTCCTAATTCAAGCACGAGAGGATCCATCCCCCAAGACCAGGG... | CATAAGACACACCTATGTCCCCTCTGCTATCTAAAAATCCCCAGTGGTTACCCCGGCCGGCAGGTGAGTGTAAACTGCTTCGCCCAGCAGGCACAGCTCTCCCAGTCTGGTGCCACGGGGCCCTGGGCTGCCTGCAGCCCCAAAGCACACCCCCAAAGGCTCCATGGAGGGAATAGAACAGGGCCTATGCAGGCCCAGGAGCCTCAGAACAGTCTCTTCCAGCCTCACAGAGTCCAGGGTATACCCCTCACAAAGAGTCGCCCCTGGTCACTGGTGCTTCCTAATTCAAGCACGAGAGGATCCATCCCCCAAGACCAGGG... |
Task1_train_5757 | This is a variant in KIF1A (kinesin family member 1A), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Hereditary spastic paraplegia 30 | CATAAGACACACCTATGTCCCCTCTGCTATCTAAAAATCCCCAGTGGTTACCCCGGCCGGCAGGTGAGTGTAAACTGCTTCGCCCAGCAGGCACAGCTCTCCCAGTCTGGTGCCACGGGGCCCTGGGCTGCCTGCAGCCCCAAAGCACACCCCCAAAGGCTCCATGGAGGGAATAGAACAGGGCCTATGCAGGCCCAGGAGCCTCAGAACAGTCTCTTCCAGCCTCACAGAGTCCAGGGTATACCCCTCACAAAGAGTCGCCCCTGGTCACTGGTGCTTCCTAATTCAAGCACGAGAGGATCCATCCCCCAAGACCAGGG... | CATAAGACACACCTATGTCCCCTCTGCTATCTAAAAATCCCCAGTGGTTACCCCGGCCGGCAGGTGAGTGTAAACTGCTTCGCCCAGCAGGCACAGCTCTCCCAGTCTGGTGCCACGGGGCCCTGGGCTGCCTGCAGCCCCAAAGCACACCCCCAAAGGCTCCATGGAGGGAATAGAACAGGGCCTATGCAGGCCCAGGAGCCTCAGAACAGTCTCTTCCAGCCTCACAGAGTCCAGGGTATACCCCTCACAAAGAGTCGCCCCTGGTCACTGGTGCTTCCTAATTCAAGCACGAGAGGATCCATCCCCCAAGACCAGGG... |
Task1_train_5758 | Here’s a variant in KIF1A (kinesin family member 1A) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hereditary spastic paraplegia 30 | TACACACACACACACACAGCTCACACACACACACACACACACACACAGCTCCACACACACACACAGCTCTACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCCCACACACACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTACACACACACACAGCTCCACACACACACAGCTCCACACACACACACAGCTCC... | TACACACACACACACACAGCTCACACACACACACACACACACACACAGCTCCACACACACACACAGCTCTACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCCCACACACACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTACACACACACACAGCTCCACACACACACAGCTCCACACACACACACAGCTCC... |
Task1_train_5759 | Here is a genetic alteration in KIF1A (kinesin family member 1A) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | CACACACACACAGCTCACACACACACACACACACACACACAGCTCCACACACACACACAGCTCTACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCCCACACACACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTACACACACACACAGCTCCACACACACACAGCTCCACACACACACACAGCTCCACACAC... | CACACACACACAGCTCACACACACACACACACACACACACAGCTCCACACACACACACAGCTCTACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCCCACACACACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTACACACACACACAGCTCCACACACACACAGCTCCACACACACACACAGCTCCACACAC... |
Task1_train_5760 | Gene KIF1A (kinesin family member 1A) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Neuropathy, hereditary sensory, type 2C | ACACAGCTCCACACACACACACAGCTCTACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCCCACACACACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTACACACACACACAGCTCCACACACACACAGCTCCACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACAGCTCCCCACAC... | ACACAGCTCCACACACACACACAGCTCTACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCCCACACACACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTACACACACACACAGCTCCACACACACACAGCTCCACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACAGCTCCCCACAC... |
Task1_train_5761 | Consider this mutation in KIF1A (kinesin family member 1A) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Hereditary spastic paraplegia 30 | ACACAGCTCCACACACACACACAGCTCTACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCCCACACACACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTACACACACACACAGCTCCACACACACACAGCTCCACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACAGCTCCCCACAC... | ACACAGCTCCACACACACACACAGCTCTACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCCCACACACACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTACACACACACACAGCTCCACACACACACAGCTCCACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACAGCTCCCCACAC... |
Task1_train_5762 | This sequence change occurs on Chromosome 2, altering KIF1A (kinesin family member 1A). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Intellectual disability, autosomal dominant 9 | ACACAGCTCCACACACACACACAGCTCTACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCCCACACACACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTACACACACACACAGCTCCACACACACACAGCTCCACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACAGCTCCCCACAC... | ACACAGCTCCACACACACACACAGCTCTACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCCCACACACACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTACACACACACACAGCTCCACACACACACAGCTCCACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACAGCTCCCCACAC... |
Task1_train_5763 | A variant was discovered in gene KIF1A (kinesin family member 1A), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Spastic paraplegia 30b, autosomal recessive | TCCTCTCCCGTTCCCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCA... | TCCTCTCCCGTTCCCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCA... |
Task1_train_5764 | This alteration occurs within gene KIF1A (kinesin family member 1A) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | TCTCCCGTTCCCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTC... | TCTCCCGTTCCCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTC... |
Task1_train_5765 | Gene KIF1A (kinesin family member 1A) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Hereditary spastic paraplegia 30 | CCGTTCCCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTT... | CCGTTCCCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTT... |
Task1_train_5766 | A variant on Chromosome 2 in gene KIF1A (kinesin family member 1A) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Neuropathy, hereditary sensory, type 2C | CCGTTCCCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTT... | CCGTTCCCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTT... |
Task1_train_5767 | A variant has been detected on Chromosome 2 in KIF1A (kinesin family member 1A). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Intellectual disability, autosomal dominant 9 | CCGTTCCCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTT... | CCGTTCCCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTT... |
Task1_train_5768 | This mutation is located in gene KIF1A (kinesin family member 1A) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Intellectual disability, autosomal dominant 9 | CCGTTCCCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTT... | CCGTTCCCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTT... |
Task1_train_5769 | Here is a mutation in KIF1A (kinesin family member 1A) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Hereditary spastic paraplegia 30 | CCGTTCCCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTT... | CCGTTCCCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTT... |
Task1_train_5770 | A variant was discovered in gene KIF1A (kinesin family member 1A), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Neuropathy, hereditary sensory, type 2C | CCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCC... | CCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCC... |
Task1_train_5771 | Consider this mutation in KIF1A (kinesin family member 1A) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Intellectual disability, autosomal dominant 9 | CCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCC... | CCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCC... |
Task1_train_5772 | Gene KIF1A (kinesin family member 1A), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Hereditary spastic paraplegia 30 | CCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCC... | CCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCC... |
Task1_train_5773 | A sequence alteration has been identified in KIF1A (kinesin family member 1A) on Chromosome 2. Is it disease-inducing or harmless? | Pathogenic; Hereditary spastic paraplegia 30 | ACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCCGGTCCCTCGAACGC... | ACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCCGGTCCCTCGAACGC... |
Task1_train_5774 | A variant found in Chromosome 2 affects KIF1A (kinesin family member 1A). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Neuropathy, hereditary sensory, type 2C | ACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCCGGTCCCTCGAACGC... | ACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCCGGTCCCTCGAACGC... |
Task1_train_5775 | Located on Chromosome 2, this mutation impacts KIF1A (kinesin family member 1A). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Intellectual disability, autosomal dominant 9 | ACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCCGGTCCCTCGAACGC... | ACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCCGGTCCCTCGAACGC... |
Task1_train_5776 | A mutation found in KIF1A (kinesin family member 1A) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Hereditary spastic paraplegia 30 | CTCTGGGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCA... | CTCTGGGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCA... |
Task1_train_5777 | A variant was discovered on Chromosome 2, affecting KIF1A (kinesin family member 1A). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Neuropathy, hereditary sensory and autonomic, type 2A | GGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAA... | GGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAA... |
Task1_train_5778 | The gene KIF1A (kinesin family member 1A), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | TTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACC... | TTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACC... |
Task1_train_5779 | This mutation occurs in KIF1A (kinesin family member 1A) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hereditary spastic paraplegia 30 | CTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATA... | CTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATA... |
Task1_train_5780 | Gene KIF1A (kinesin family member 1A) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Intellectual disability, autosomal dominant 9 | TATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATAT... | TATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATAT... |
Task1_train_5781 | A variant on Chromosome 2 in gene KIF1A (kinesin family member 1A) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hereditary spastic paraplegia 30 | TATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATAT... | TATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATAT... |
Task1_train_5782 | This gene mutation involves KIF1A (kinesin family member 1A) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Hereditary spastic paraplegia 30 | CTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGC... | CTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGC... |
Task1_train_5783 | This sequence variant lies in KIF1A (kinesin family member 1A) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | CCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCC... | CCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCC... |
Task1_train_5784 | Here is a variant affecting KIF1A (kinesin family member 1A) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | AGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGC... | AGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGC... |
Task1_train_5785 | Here is a variant affecting KIF1A (kinesin family member 1A) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hereditary spastic paraplegia 30 | CAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAA... | CAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAA... |
Task1_train_5786 | Gene KIF1A (kinesin family member 1A), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Neuropathy, hereditary sensory, type 2C | CAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAA... | CAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAA... |
Task1_train_5787 | Gene KIF1A (kinesin family member 1A), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Intellectual disability, autosomal dominant 9 | CAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAA... | CAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAA... |
Task1_train_5788 | An alteration has been detected in KIF1A (kinesin family member 1A) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Inborn genetic diseases | CTGGGACTAGCAGAGCAGCTGCCCCATCGAAGCAGCAGCCACAGATGCTGCCAGCACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACC... | CTGGGACTAGCAGAGCAGCTGCCCCATCGAAGCAGCAGCCACAGATGCTGCCAGCACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACC... |
Task1_train_5789 | A genetic alteration is present in KIF1A (kinesin family member 1A) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | AGATGCTGCCAGCACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGT... | AGATGCTGCCAGCACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGT... |
Task1_train_5790 | The gene KIF1A (kinesin family member 1A) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Hereditary spastic paraplegia 30 | CACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAG... | CACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAG... |
Task1_train_5791 | Gene KIF1A (kinesin family member 1A) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Neuropathy, hereditary sensory, type 2C | CACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAG... | CACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAG... |
Task1_train_5792 | This mutation occurs in KIF1A (kinesin family member 1A) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Intellectual disability, autosomal dominant 9 | CACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAG... | CACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAG... |
Task1_train_5793 | A change on Chromosome 2 affects gene KIF1A (kinesin family member 1A). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Intellectual disability, autosomal dominant 9 | CACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAG... | CACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAG... |
Task1_train_5794 | A sequence alteration has been identified in KIF1A (kinesin family member 1A) on Chromosome 2. Is it disease-inducing or harmless? | Pathogenic; PEHO syndrome | CACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAG... | CACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAG... |
Task1_train_5795 | A mutation on Chromosome 2 affecting KIF1A (kinesin family member 1A) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Intellectual disability, autosomal dominant 9 | GACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCC... | GACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCC... |
Task1_train_5796 | This variant affects the gene KIF1A (kinesin family member 1A) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hereditary spastic paraplegia 30 | CAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCC... | CAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCC... |
Task1_train_5797 | Gene KIF1A (kinesin family member 1A) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Hereditary spastic paraplegia 30 | TCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGTCAC... | TCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGTCAC... |
Task1_train_5798 | Consider a variant on Chromosome 2 in gene KIF1A (kinesin family member 1A). Determine its clinical classification and disease relevance. | Pathogenic; Hereditary spastic paraplegia 30 | GTACCCTCCCGTTTCTGGATCCTATGAGGGGAAATGCATAATGGGGAGGCCGCCTACCCAGTGCCCCTGGAGGCTGAGCCAGGGGGCAGGTCGGAGGCTGCAAGGGTGCCACTCGCCCACCCTGGCCGTCACTTCTGGGACACACATTCCAACCCGCCCACCTGCCTAACCCTGTCATTTAGGGTCTGGCCTGAGGCTGGGCCATTCTCAAGGTTCAGGGGCAGGAGGGTCCCATCTCTGAGGCTTTGTTCTTCCATCCACTCTGCTTCTGGTGGTCTTTAGCTGCTCGACGGGTCTGGTTCTTGTCACTGTGCCAACCA... | GTACCCTCCCGTTTCTGGATCCTATGAGGGGAAATGCATAATGGGGAGGCCGCCTACCCAGTGCCCCTGGAGGCTGAGCCAGGGGGCAGGTCGGAGGCTGCAAGGGTGCCACTCGCCCACCCTGGCCGTCACTTCTGGGACACACATTCCAACCCGCCCACCTGCCTAACCCTGTCATTTAGGGTCTGGCCTGAGGCTGGGCCATTCTCAAGGTTCAGGGGCAGGAGGGTCCCATCTCTGAGGCTTTGTTCTTCCATCCACTCTGCTTCTGGTGGTCTTTAGCTGCTCGACGGGTCTGGTTCTTGTCACTGTGCCAACCA... |
Task1_train_5799 | This sequence variant lies in AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Primary hyperoxaluria, type I | GTGCTGTCATCAACAGGACCCGTTGCACCTACATTTATGTGTCTGGAGAAGTGGAAACCGATGCCCAAGAAATCATCAAACAAGCCAAATGGCTACACACACTTTCCCAAAGCAACCAAGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGC... | GTGCTGTCATCAACAGGACCCGTTGCACCTACATTTATGTGTCTGGAGAAGTGGAAACCGATGCCCAAGAAATCATCAAACAAGCCAAATGGCTACACACACTTTCCCAAAGCAACCAAGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGC... |
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