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_12800 | A variant affecting Chromosome 9, within the gene VCP (valosin containing protein), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | AAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAG... | AAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAG... |
Task1_train_12801 | The gene FANCG (FA complementation group G) on Chromosome 9 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Fanconi anemia complementation group G | CCAGCCGGGCCTGCCGGGTCCACGGCCCCTCACTCGCCCCCTAGCTTCCCTTCCCTCTTTCCTGGTCTCCACCTCTCTGACGCGCCCACGGCCAGGCCCCGCCGGGCCTACCCTGCGCGGCTGGTCCCGGTGCGCGCCGCCGCAGCAAGCGAACGGCGCGCGCACACTCACTCGGCTCCAGAAGCCATGGCGCGCGCCTCTCCCGGCCGGCGGCTGTGGCGGCCCGCGGGTAACGGCTACGAGCGGTGGCAAGCGACCGACTGGGCCGGGGCTCGGCTCTTCCAGGCGGTGGGCGAGCAGCGGCGACAAACCCGCAAGCG... | CCAGCCGGGCCTGCCGGGTCCACGGCCCCTCACTCGCCCCCTAGCTTCCCTTCCCTCTTTCCTGGTCTCCACCTCTCTGACGCGCCCACGGCCAGGCCCCGCCGGGCCTACCCTGCGCGGCTGGTCCCGGTGCGCGCCGCCGCAGCAAGCGAACGGCGCGCGCACACTCACTCGGCTCCAGAAGCCATGGCGCGCGCCTCTCCCGGCCGGCGGCTGTGGCGGCCCGCGGGTAACGGCTACGAGCGGTGGCAAGCGACCGACTGGGCCGGGGCTCGGCTCTTCCAGGCGGTGGGCGAGCAGCGGCGACAAACCCGCAAGCG... |
Task1_train_12802 | Gene FANCG (FA complementation group G) on Chromosome 9 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Fanconi anemia complementation group G | GGCGAGATCGATTAGTGAAAGGAGACCCTTTAATCCCTTAGAGGCGGACTCTCCCACTTGGCTCCAGTTCATTGGCTCCGGAGTTTATCCTCCTGGAAGAACGTGGCACAATAGACTGAACCCTTGTATTAGTCTAGTCCTATTGTGGTAACCCATACACCCATCTTCTCCCAAAACCTGGAGATCTTCTAAGACGCCATCACCACCCTGACACTTCTTGCTCCTTCTCAACGCTGCCTCCAACCACCCCTACTCTGAACTTTCTGACTAGCACCCCACTCCTACCCCATTGTCACTGCACCCTCTGGTAACCCCAATCC... | GGCGAGATCGATTAGTGAAAGGAGACCCTTTAATCCCTTAGAGGCGGACTCTCCCACTTGGCTCCAGTTCATTGGCTCCGGAGTTTATCCTCCTGGAAGAACGTGGCACAATAGACTGAACCCTTGTATTAGTCTAGTCCTATTGTGGTAACCCATACACCCATCTTCTCCCAAAACCTGGAGATCTTCTAAGACGCCATCACCACCCTGACACTTCTTGCTCCTTCTCAACGCTGCCTCCAACCACCCCTACTCTGAACTTTCTGACTAGCACCCCACTCCTACCCCATTGTCACTGCACCCTCTGGTAACCCCAATCC... |
Task1_train_12803 | This alteration occurs within gene FANCG (FA complementation group G) located on Chromosome 9. Is it associated with a disease or is it a benign variant? | Pathogenic; Fanconi anemia complementation group G | GCTCCGGAGTTTATCCTCCTGGAAGAACGTGGCACAATAGACTGAACCCTTGTATTAGTCTAGTCCTATTGTGGTAACCCATACACCCATCTTCTCCCAAAACCTGGAGATCTTCTAAGACGCCATCACCACCCTGACACTTCTTGCTCCTTCTCAACGCTGCCTCCAACCACCCCTACTCTGAACTTTCTGACTAGCACCCCACTCCTACCCCATTGTCACTGCACCCTCTGGTAACCCCAATCCCACAGCCTTTGCAGTTTCTCAGCGCTTGTGCCTTTCTTCCTCCCGTCATTAATATTAATACCTTATAATAAGGC... | GCTCCGGAGTTTATCCTCCTGGAAGAACGTGGCACAATAGACTGAACCCTTGTATTAGTCTAGTCCTATTGTGGTAACCCATACACCCATCTTCTCCCAAAACCTGGAGATCTTCTAAGACGCCATCACCACCCTGACACTTCTTGCTCCTTCTCAACGCTGCCTCCAACCACCCCTACTCTGAACTTTCTGACTAGCACCCCACTCCTACCCCATTGTCACTGCACCCTCTGGTAACCCCAATCCCACAGCCTTTGCAGTTTCTCAGCGCTTGTGCCTTTCTTCCTCCCGTCATTAATATTAATACCTTATAATAAGGC... |
Task1_train_12804 | Gene FANCG (FA complementation group G) on Chromosome 9 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Fanconi anemia | CAGAGTCATGGTCTTTGTGTCTGAGGATATCGGGGAAACCAGGGAACTCTTGGGAGCCCTGCATACACACTGTGTATATTTGAACACCTGGATATATCCCTAGGTATATATAGCACAACCCCAATCACCCCTCCTGTCTGAGAACACCACTCTTACACTTACGCCCAAGTATTTCCCATGGGCCTCTCTGTCCTTGCACATCTATGCATAGCCGACGTCATGCAAGTATACATACCTGGGCACATCTGCACACTGAGGAGGAAGTCCTGTAAGGCTTTGGTATCCTGGCCGCTGGCTACCCATTCCAGTCCACGACTAAT... | CAGAGTCATGGTCTTTGTGTCTGAGGATATCGGGGAAACCAGGGAACTCTTGGGAGCCCTGCATACACACTGTGTATATTTGAACACCTGGATATATCCCTAGGTATATATAGCACAACCCCAATCACCCCTCCTGTCTGAGAACACCACTCTTACACTTACGCCCAAGTATTTCCCATGGGCCTCTCTGTCCTTGCACATCTATGCATAGCCGACGTCATGCAAGTATACATACCTGGGCACATCTGCACACTGAGGAGGAAGTCCTGTAAGGCTTTGGTATCCTGGCCGCTGGCTACCCATTCCAGTCCACGACTAAT... |
Task1_train_12805 | With a mutation on Chromosome 9 in gene FANCG (FA complementation group G), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Fanconi anemia complementation group G | CAGAGTCATGGTCTTTGTGTCTGAGGATATCGGGGAAACCAGGGAACTCTTGGGAGCCCTGCATACACACTGTGTATATTTGAACACCTGGATATATCCCTAGGTATATATAGCACAACCCCAATCACCCCTCCTGTCTGAGAACACCACTCTTACACTTACGCCCAAGTATTTCCCATGGGCCTCTCTGTCCTTGCACATCTATGCATAGCCGACGTCATGCAAGTATACATACCTGGGCACATCTGCACACTGAGGAGGAAGTCCTGTAAGGCTTTGGTATCCTGGCCGCTGGCTACCCATTCCAGTCCACGACTAAT... | CAGAGTCATGGTCTTTGTGTCTGAGGATATCGGGGAAACCAGGGAACTCTTGGGAGCCCTGCATACACACTGTGTATATTTGAACACCTGGATATATCCCTAGGTATATATAGCACAACCCCAATCACCCCTCCTGTCTGAGAACACCACTCTTACACTTACGCCCAAGTATTTCCCATGGGCCTCTCTGTCCTTGCACATCTATGCATAGCCGACGTCATGCAAGTATACATACCTGGGCACATCTGCACACTGAGGAGGAAGTCCTGTAAGGCTTTGGTATCCTGGCCGCTGGCTACCCATTCCAGTCCACGACTAAT... |
Task1_train_12806 | A mutation found in FANCG (FA complementation group G) on Chromosome 9 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Fanconi anemia | ACTAGTCAAGTCACCCCATCACAAGCACCTCAGGAATCCTCCACCCCACATCTTCACCTGGCAGTTCCCTACCTCAACTAGCAGCTCCAGACTCTCCAGCTCTGCTGTTGTGTCCCCCAGTTGCTGATAGAGCCTAGAGGCCTCCAGAAGTGGAGGACCCCAGGCTGATCCCTCTTTCAGGGCTGCAACCAAGTACAACAGTGCTCTCTGTGGATTTCCCTAAAGGGATAGGAGGACACGGGCCTCAGCTACCCTTACAAAGCAAAAAGCTATACATAATGCTTGTGGTTTCCCCAATCCACCCTAGGACTGTCTTTACC... | ACTAGTCAAGTCACCCCATCACAAGCACCTCAGGAATCCTCCACCCCACATCTTCACCTGGCAGTTCCCTACCTCAACTAGCAGCTCCAGACTCTCCAGCTCTGCTGTTGTGTCCCCCAGTTGCTGATAGAGCCTAGAGGCCTCCAGAAGTGGAGGACCCCAGGCTGATCCCTCTTTCAGGGCTGCAACCAAGTACAACAGTGCTCTCTGTGGATTTCCCTAAAGGGATAGGAGGACACGGGCCTCAGCTACCCTTACAAAGCAAAAAGCTATACATAATGCTTGTGGTTTCCCCAATCCACCCTAGGACTGTCTTTACC... |
Task1_train_12807 | This alteration in FANCG (FA complementation group G) on Chromosome 9 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Fanconi anemia complementation group G | ACTAGTCAAGTCACCCCATCACAAGCACCTCAGGAATCCTCCACCCCACATCTTCACCTGGCAGTTCCCTACCTCAACTAGCAGCTCCAGACTCTCCAGCTCTGCTGTTGTGTCCCCCAGTTGCTGATAGAGCCTAGAGGCCTCCAGAAGTGGAGGACCCCAGGCTGATCCCTCTTTCAGGGCTGCAACCAAGTACAACAGTGCTCTCTGTGGATTTCCCTAAAGGGATAGGAGGACACGGGCCTCAGCTACCCTTACAAAGCAAAAAGCTATACATAATGCTTGTGGTTTCCCCAATCCACCCTAGGACTGTCTTTACC... | ACTAGTCAAGTCACCCCATCACAAGCACCTCAGGAATCCTCCACCCCACATCTTCACCTGGCAGTTCCCTACCTCAACTAGCAGCTCCAGACTCTCCAGCTCTGCTGTTGTGTCCCCCAGTTGCTGATAGAGCCTAGAGGCCTCCAGAAGTGGAGGACCCCAGGCTGATCCCTCTTTCAGGGCTGCAACCAAGTACAACAGTGCTCTCTGTGGATTTCCCTAAAGGGATAGGAGGACACGGGCCTCAGCTACCCTTACAAAGCAAAAAGCTATACATAATGCTTGTGGTTTCCCCAATCCACCCTAGGACTGTCTTTACC... |
Task1_train_12808 | The gene FANCG (FA complementation group G) on Chromosome 9 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Fanconi anemia complementation group G | GGACAACCAGAAGCTCCAAGCCTACAACCTCCTCGTCTTCTCCTATCTCCATCTATCCTGGCTAGACCTTGAGCTCAAGGGTCCTCTTGATCCTTGAGGACACAGGCCTCAGCTACCCTTACAAAGCAAGAAGCTATGCATAATGCCTGTAGTTTCCCCCAATTCTAAGAGATAGATAGCTATGAGGCAAGAATTAAAAAAAAGGAAGAAAAACCTGGGGCAGTGATGATCTATTCCAGCGTGCCTCCTCACTCAGGGCAAGGACCATATTTGAGTTACTAATAAGGAGACTAAGGCTGAGAGCTGACTTGAGCAAGATC... | GGACAACCAGAAGCTCCAAGCCTACAACCTCCTCGTCTTCTCCTATCTCCATCTATCCTGGCTAGACCTTGAGCTCAAGGGTCCTCTTGATCCTTGAGGACACAGGCCTCAGCTACCCTTACAAAGCAAGAAGCTATGCATAATGCCTGTAGTTTCCCCCAATTCTAAGAGATAGATAGCTATGAGGCAAGAATTAAAAAAAAGGAAGAAAAACCTGGGGCAGTGATGATCTATTCCAGCGTGCCTCCTCACTCAGGGCAAGGACCATATTTGAGTTACTAATAAGGAGACTAAGGCTGAGAGCTGACTTGAGCAAGATC... |
Task1_train_12809 | The variant affects gene PIGO (phosphatidylinositol glycan anchor biosynthesis class O), which is on Chromosome 9. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Hyperphosphatasia with intellectual disability syndrome 1 | GGCCAGAATCTAGAGGAGGAGAGGAGGGGCCACGTTACTTGTGAAGGAGAGGAGGAAGCGGAGCAAAAGGAGAGTTTCTATAGGCCCCTGTAAAAAATGGAAGCAGGAGAATAGTGCATGTCAGTGGAAAAAATATTGCATGTCCTGGGCTAGGAGTTAGGAGACCTACTTCCTGCCCTGCCCCAAGCACTGACTCACTATGTGACTTTGGGCAAGTCAGTATCCATCTGCAATGCTAACACTCAGGCTGTGCCCCCAGGATGGAGGAAGATATCAGTGCCACATCTGCCTCTGGAGGAAAGGAAGAGGATCCATGACCA... | GGCCAGAATCTAGAGGAGGAGAGGAGGGGCCACGTTACTTGTGAAGGAGAGGAGGAAGCGGAGCAAAAGGAGAGTTTCTATAGGCCCCTGTAAAAAATGGAAGCAGGAGAATAGTGCATGTCAGTGGAAAAAATATTGCATGTCCTGGGCTAGGAGTTAGGAGACCTACTTCCTGCCCTGCCCCAAGCACTGACTCACTATGTGACTTTGGGCAAGTCAGTATCCATCTGCAATGCTAACACTCAGGCTGTGCCCCCAGGATGGAGGAAGATATCAGTGCCACATCTGCCTCTGGAGGAAAGGAAGAGGATCCATGACCA... |
Task1_train_12810 | Located on Chromosome 9, this mutation impacts TPM2 (tropomyosin 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Congenital myopathy 23 | GATGGGGCCACACGTGCCCACATGCAGTGGTGAATCAGAGAGCGACAGCCAGGGAGTGCCTGTGCAGAGGGGTTTCAGCGTGGGCCATGGTGTTTTGTGGGTGGGCTCAGTGCAGGGGCTGGGGGTGTCAGTAAGTGCCAGGGTGTCAGGAGTGAACCAGTGCTCCGTGGTGGCGATAGAGGTGCTCTCTGGAGGGCAGGAAAACAGCATGGAGACCAAGTTCAGAATTTATTAAGCAGCAAAGGAGGGTGGAAGGGGATAGGTAAAGGATGAAGCCAGTGCCAGAGTGGGTGGTGGGCATGATGGGGGCTCTCCCTAGG... | GATGGGGCCACACGTGCCCACATGCAGTGGTGAATCAGAGAGCGACAGCCAGGGAGTGCCTGTGCAGAGGGGTTTCAGCGTGGGCCATGGTGTTTTGTGGGTGGGCTCAGTGCAGGGGCTGGGGGTGTCAGTAAGTGCCAGGGTGTCAGGAGTGAACCAGTGCTCCGTGGTGGCGATAGAGGTGCTCTCTGGAGGGCAGGAAAACAGCATGGAGACCAAGTTCAGAATTTATTAAGCAGCAAAGGAGGGTGGAAGGGGATAGGTAAAGGATGAAGCCAGTGCCAGAGTGGGTGGTGGGCATGATGGGGGCTCTCCCTAGG... |
Task1_train_12811 | Here is a genetic alteration in TPM2 (tropomyosin 2) on Chromosome 9. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Arthrogryposis, distal, type 1A | CCTGCCTCTCCAGGGAGCTGTGTGTACAATGCTCTCGACAAGCAGGAGTGCTTGCTTAGAGGGGAGAGGGAGGGTGCTGGAGCCAGAAAGGGCAAACCTCCTAAAGCTGGAGGTAAAATTGGAGCTTGCCTGAGAAGGCTGGAAGCGAGAGAAGTGGGAAAGTGAAAGGGTTATCACAGAATAAAAAGGAAAGGCAACTTTAGCCACATCATCATTAACAATAGAAATAGCCACAGACTCACAAATATCTGGATGTTTGCTTTTGTCAAATCTAGCTTAAAATAGTGTTTTCTATTAGTGCTGTCATGCAGACCTAGATG... | CCTGCCTCTCCAGGGAGCTGTGTGTACAATGCTCTCGACAAGCAGGAGTGCTTGCTTAGAGGGGAGAGGGAGGGTGCTGGAGCCAGAAAGGGCAAACCTCCTAAAGCTGGAGGTAAAATTGGAGCTTGCCTGAGAAGGCTGGAAGCGAGAGAAGTGGGAAAGTGAAAGGGTTATCACAGAATAAAAAGGAAAGGCAACTTTAGCCACATCATCATTAACAATAGAAATAGCCACAGACTCACAAATATCTGGATGTTTGCTTTTGTCAAATCTAGCTTAAAATAGTGTTTTCTATTAGTGCTGTCATGCAGACCTAGATG... |
Task1_train_12812 | A variant on Chromosome 9 in gene TPM2 (tropomyosin 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Arthrogryposis | CCTGCCTCTCCAGGGAGCTGTGTGTACAATGCTCTCGACAAGCAGGAGTGCTTGCTTAGAGGGGAGAGGGAGGGTGCTGGAGCCAGAAAGGGCAAACCTCCTAAAGCTGGAGGTAAAATTGGAGCTTGCCTGAGAAGGCTGGAAGCGAGAGAAGTGGGAAAGTGAAAGGGTTATCACAGAATAAAAAGGAAAGGCAACTTTAGCCACATCATCATTAACAATAGAAATAGCCACAGACTCACAAATATCTGGATGTTTGCTTTTGTCAAATCTAGCTTAAAATAGTGTTTTCTATTAGTGCTGTCATGCAGACCTAGATG... | CCTGCCTCTCCAGGGAGCTGTGTGTACAATGCTCTCGACAAGCAGGAGTGCTTGCTTAGAGGGGAGAGGGAGGGTGCTGGAGCCAGAAAGGGCAAACCTCCTAAAGCTGGAGGTAAAATTGGAGCTTGCCTGAGAAGGCTGGAAGCGAGAGAAGTGGGAAAGTGAAAGGGTTATCACAGAATAAAAAGGAAAGGCAACTTTAGCCACATCATCATTAACAATAGAAATAGCCACAGACTCACAAATATCTGGATGTTTGCTTTTGTCAAATCTAGCTTAAAATAGTGTTTTCTATTAGTGCTGTCATGCAGACCTAGATG... |
Task1_train_12813 | Gene TPM2 (tropomyosin 2) on Chromosome 9 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Arthrogryposis, distal, type 1A | AGCGAGAGAAGTGGGAAAGTGAAAGGGTTATCACAGAATAAAAAGGAAAGGCAACTTTAGCCACATCATCATTAACAATAGAAATAGCCACAGACTCACAAATATCTGGATGTTTGCTTTTGTCAAATCTAGCTTAAAATAGTGTTTTCTATTAGTGCTGTCATGCAGACCTAGATGTTCAGTCCAACAGCTCTCTAGTTAATAAGCCAGTCTCTGCACTAGAACTCTACTGCGTTACACTCGGGGACGGAATTGTCTATAAGGGTGCCACTCAGAGTGTGGCATGAGGACCAGCAGCATTGGCAGTACCAGAGAACTAG... | AGCGAGAGAAGTGGGAAAGTGAAAGGGTTATCACAGAATAAAAAGGAAAGGCAACTTTAGCCACATCATCATTAACAATAGAAATAGCCACAGACTCACAAATATCTGGATGTTTGCTTTTGTCAAATCTAGCTTAAAATAGTGTTTTCTATTAGTGCTGTCATGCAGACCTAGATGTTCAGTCCAACAGCTCTCTAGTTAATAAGCCAGTCTCTGCACTAGAACTCTACTGCGTTACACTCGGGGACGGAATTGTCTATAAGGGTGCCACTCAGAGTGTGGCATGAGGACCAGCAGCATTGGCAGTACCAGAGAACTAG... |
Task1_train_12814 | The variant affects gene TPM2 (tropomyosin 2), which is on Chromosome 9. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Arthrogryposis, distal, type 2B4 | AAAGGAAAGGCAACTTTAGCCACATCATCATTAACAATAGAAATAGCCACAGACTCACAAATATCTGGATGTTTGCTTTTGTCAAATCTAGCTTAAAATAGTGTTTTCTATTAGTGCTGTCATGCAGACCTAGATGTTCAGTCCAACAGCTCTCTAGTTAATAAGCCAGTCTCTGCACTAGAACTCTACTGCGTTACACTCGGGGACGGAATTGTCTATAAGGGTGCCACTCAGAGTGTGGCATGAGGACCAGCAGCATTGGCAGTACCAGAGAACTAGCTAGAAATGTAAATCCTCCAGCCCAAAGTCAGCAATCTCTT... | AAAGGAAAGGCAACTTTAGCCACATCATCATTAACAATAGAAATAGCCACAGACTCACAAATATCTGGATGTTTGCTTTTGTCAAATCTAGCTTAAAATAGTGTTTTCTATTAGTGCTGTCATGCAGACCTAGATGTTCAGTCCAACAGCTCTCTAGTTAATAAGCCAGTCTCTGCACTAGAACTCTACTGCGTTACACTCGGGGACGGAATTGTCTATAAGGGTGCCACTCAGAGTGTGGCATGAGGACCAGCAGCATTGGCAGTACCAGAGAACTAGCTAGAAATGTAAATCCTCCAGCCCAAAGTCAGCAATCTCTT... |
Task1_train_12815 | This variant affects gene TPM2 (tropomyosin 2) located on Chromosome 9. Evaluate its biological effect and specify any disease association. | Pathogenic; Arthrogryposis, distal, type 1A | TAGAAATAGCCACAGACTCACAAATATCTGGATGTTTGCTTTTGTCAAATCTAGCTTAAAATAGTGTTTTCTATTAGTGCTGTCATGCAGACCTAGATGTTCAGTCCAACAGCTCTCTAGTTAATAAGCCAGTCTCTGCACTAGAACTCTACTGCGTTACACTCGGGGACGGAATTGTCTATAAGGGTGCCACTCAGAGTGTGGCATGAGGACCAGCAGCATTGGCAGTACCAGAGAACTAGCTAGAAATGTAAATCCTCCAGCCCAAAGTCAGCAATCTCTTTGGGGCAGAGTCAAGGAATCTGTTTTTAAAACTCTCC... | TAGAAATAGCCACAGACTCACAAATATCTGGATGTTTGCTTTTGTCAAATCTAGCTTAAAATAGTGTTTTCTATTAGTGCTGTCATGCAGACCTAGATGTTCAGTCCAACAGCTCTCTAGTTAATAAGCCAGTCTCTGCACTAGAACTCTACTGCGTTACACTCGGGGACGGAATTGTCTATAAGGGTGCCACTCAGAGTGTGGCATGAGGACCAGCAGCATTGGCAGTACCAGAGAACTAGCTAGAAATGTAAATCCTCCAGCCCAAAGTCAGCAATCTCTTTGGGGCAGAGTCAAGGAATCTGTTTTTAAAACTCTCC... |
Task1_train_12816 | A change on Chromosome 9 affects gene TPM2 (tropomyosin 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Arthrogryposis, distal, type 1A | TGAATTGGGATGTGTAGGGCGGGGGCTTGGGAATCTTCTCTTTTTTTTTTAAAGCCCCCGAGTGATTCTGATGATAAGCCAAGTTTGGGAAATTGTAAAATAACATGCAGAAAGCACTGAGTACATTGCCTGCACAGGGTCCACATTCCATAAATATTAGGTTATCCCCTTTCTCTGTCAAAAACAAGGACACAGAGACCCTGAGATTTCAGAGTGGAAAGGAGAGAGGACCTGTGTAGGGAAAGGAGGTGGGGGGAGGGGCTGGGGGCAGCACTTGGACACAGCATAGGAAGCAGGTCCTTGGTCGGACTGTAGGGCAG... | TGAATTGGGATGTGTAGGGCGGGGGCTTGGGAATCTTCTCTTTTTTTTTTAAAGCCCCCGAGTGATTCTGATGATAAGCCAAGTTTGGGAAATTGTAAAATAACATGCAGAAAGCACTGAGTACATTGCCTGCACAGGGTCCACATTCCATAAATATTAGGTTATCCCCTTTCTCTGTCAAAAACAAGGACACAGAGACCCTGAGATTTCAGAGTGGAAAGGAGAGAGGACCTGTGTAGGGAAAGGAGGTGGGGGGAGGGGCTGGGGGCAGCACTTGGACACAGCATAGGAAGCAGGTCCTTGGTCGGACTGTAGGGCAG... |
Task1_train_12817 | A mutation in NPR2 (natriuretic peptide receptor 2), located on Chromosome 9, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Tall stature-scoliosis-macrodactyly of the great toes syndrome | CCCACCAAACCACTAGGTGTCGCCTTCATCTCAGGGAAACCATGCCCGTCCTCGCCCTATACACTCCCACCCCACTCCAGGGCTCCAGGAGCGCTCTTAGCTTGTGATTTCTGGAGAAATAGCTTGAAGGGGGGAGAGAAACCGTGGCTCTTAGCGCGGGCAGAGAATGGGCTTATGTGCATGTCCTTTATGACAGTTGGAGAAAAATCCCCAAGGTCCCATAGCAGTCCCTCTCAGCCACCATGAGATCATCCCTCACAAGCTGTTCTTGGGGTCAGATTGGCACTCCAGATATGAGGGCCCTAGGGAGAGCTTCCTAA... | CCCACCAAACCACTAGGTGTCGCCTTCATCTCAGGGAAACCATGCCCGTCCTCGCCCTATACACTCCCACCCCACTCCAGGGCTCCAGGAGCGCTCTTAGCTTGTGATTTCTGGAGAAATAGCTTGAAGGGGGGAGAGAAACCGTGGCTCTTAGCGCGGGCAGAGAATGGGCTTATGTGCATGTCCTTTATGACAGTTGGAGAAAAATCCCCAAGGTCCCATAGCAGTCCCTCTCAGCCACCATGAGATCATCCCTCACAAGCTGTTCTTGGGGTCAGATTGGCACTCCAGATATGAGGGCCCTAGGGAGAGCTTCCTAA... |
Task1_train_12818 | Gene NPR2 (natriuretic peptide receptor 2) on Chromosome 9 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Acromesomelic dysplasia 1, Maroteaux type | CCCACCAAACCACTAGGTGTCGCCTTCATCTCAGGGAAACCATGCCCGTCCTCGCCCTATACACTCCCACCCCACTCCAGGGCTCCAGGAGCGCTCTTAGCTTGTGATTTCTGGAGAAATAGCTTGAAGGGGGGAGAGAAACCGTGGCTCTTAGCGCGGGCAGAGAATGGGCTTATGTGCATGTCCTTTATGACAGTTGGAGAAAAATCCCCAAGGTCCCATAGCAGTCCCTCTCAGCCACCATGAGATCATCCCTCACAAGCTGTTCTTGGGGTCAGATTGGCACTCCAGATATGAGGGCCCTAGGGAGAGCTTCCTAA... | CCCACCAAACCACTAGGTGTCGCCTTCATCTCAGGGAAACCATGCCCGTCCTCGCCCTATACACTCCCACCCCACTCCAGGGCTCCAGGAGCGCTCTTAGCTTGTGATTTCTGGAGAAATAGCTTGAAGGGGGGAGAGAAACCGTGGCTCTTAGCGCGGGCAGAGAATGGGCTTATGTGCATGTCCTTTATGACAGTTGGAGAAAAATCCCCAAGGTCCCATAGCAGTCCCTCTCAGCCACCATGAGATCATCCCTCACAAGCTGTTCTTGGGGTCAGATTGGCACTCCAGATATGAGGGCCCTAGGGAGAGCTTCCTAA... |
Task1_train_12819 | This mutation occurs in NPR2 (natriuretic peptide receptor 2) on Chromosome 9. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Short stature with nonspecific skeletal abnormalities | GGAGAGAAACCGTGGCTCTTAGCGCGGGCAGAGAATGGGCTTATGTGCATGTCCTTTATGACAGTTGGAGAAAAATCCCCAAGGTCCCATAGCAGTCCCTCTCAGCCACCATGAGATCATCCCTCACAAGCTGTTCTTGGGGTCAGATTGGCACTCCAGATATGAGGGCCCTAGGGAGAGCTTCCTAAGGGAAGCTGGGAGCAAGGTGGAACCCCAGGAGAGCGTGGATGGGCTTCCACTGCGGGGAGTGTCCCGCCGGTCCGTTACAGGCTTTCCCCAGGCGCCAGCCTGCGCTGTGCAGGAGACAAAAGAAAATCGAG... | GGAGAGAAACCGTGGCTCTTAGCGCGGGCAGAGAATGGGCTTATGTGCATGTCCTTTATGACAGTTGGAGAAAAATCCCCAAGGTCCCATAGCAGTCCCTCTCAGCCACCATGAGATCATCCCTCACAAGCTGTTCTTGGGGTCAGATTGGCACTCCAGATATGAGGGCCCTAGGGAGAGCTTCCTAAGGGAAGCTGGGAGCAAGGTGGAACCCCAGGAGAGCGTGGATGGGCTTCCACTGCGGGGAGTGTCCCGCCGGTCCGTTACAGGCTTTCCCCAGGCGCCAGCCTGCGCTGTGCAGGAGACAAAAGAAAATCGAG... |
Task1_train_12820 | This alteration in NPR2 (natriuretic peptide receptor 2) on Chromosome 9 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Acromesomelic dysplasia 1, Maroteaux type | CATCCCTCACAAGCTGTTCTTGGGGTCAGATTGGCACTCCAGATATGAGGGCCCTAGGGAGAGCTTCCTAAGGGAAGCTGGGAGCAAGGTGGAACCCCAGGAGAGCGTGGATGGGCTTCCACTGCGGGGAGTGTCCCGCCGGTCCGTTACAGGCTTTCCCCAGGCGCCAGCCTGCGCTGTGCAGGAGACAAAAGAAAATCGAGGCCCTGACTGAGCAGATGGTGCGGAGGAAGCCGGGCGGGCTGCGGTGGGCCTCTGAGGACACGAGGAGGGCAGGGGGCATGGAGACAGCGGGGGGCCGAGAGTTGAGTCCCAAGCAA... | CATCCCTCACAAGCTGTTCTTGGGGTCAGATTGGCACTCCAGATATGAGGGCCCTAGGGAGAGCTTCCTAAGGGAAGCTGGGAGCAAGGTGGAACCCCAGGAGAGCGTGGATGGGCTTCCACTGCGGGGAGTGTCCCGCCGGTCCGTTACAGGCTTTCCCCAGGCGCCAGCCTGCGCTGTGCAGGAGACAAAAGAAAATCGAGGCCCTGACTGAGCAGATGGTGCGGAGGAAGCCGGGCGGGCTGCGGTGGGCCTCTGAGGACACGAGGAGGGCAGGGGGCATGGAGACAGCGGGGGGCCGAGAGTTGAGTCCCAAGCAA... |
Task1_train_12821 | The gene NPR2 (natriuretic peptide receptor 2), on Chromosome 9, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Acromesomelic dysplasia 1, Maroteaux type | CGTGGATGGGCTTCCACTGCGGGGAGTGTCCCGCCGGTCCGTTACAGGCTTTCCCCAGGCGCCAGCCTGCGCTGTGCAGGAGACAAAAGAAAATCGAGGCCCTGACTGAGCAGATGGTGCGGAGGAAGCCGGGCGGGCTGCGGTGGGCCTCTGAGGACACGAGGAGGGCAGGGGGCATGGAGACAGCGGGGGGCCGAGAGTTGAGTCCCAAGCAAGAAGGAGCCTCGTGGACTTTCTAAGGACTGGTGGGAAGTGTACAGCAGGGGCCCCTGGCTGCTGGAGGGGCCCGTCCAGGGAGCGGGCATGGTCCGCGGTGGAGT... | CGTGGATGGGCTTCCACTGCGGGGAGTGTCCCGCCGGTCCGTTACAGGCTTTCCCCAGGCGCCAGCCTGCGCTGTGCAGGAGACAAAAGAAAATCGAGGCCCTGACTGAGCAGATGGTGCGGAGGAAGCCGGGCGGGCTGCGGTGGGCCTCTGAGGACACGAGGAGGGCAGGGGGCATGGAGACAGCGGGGGGCCGAGAGTTGAGTCCCAAGCAAGAAGGAGCCTCGTGGACTTTCTAAGGACTGGTGGGAAGTGTACAGCAGGGGCCCCTGGCTGCTGGAGGGGCCCGTCCAGGGAGCGGGCATGGTCCGCGGTGGAGT... |
Task1_train_12822 | A variant was discovered on Chromosome 9, affecting NPR2 (natriuretic peptide receptor 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Acromesomelic dysplasia 1, Maroteaux type | AGACAAAAGAAAATCGAGGCCCTGACTGAGCAGATGGTGCGGAGGAAGCCGGGCGGGCTGCGGTGGGCCTCTGAGGACACGAGGAGGGCAGGGGGCATGGAGACAGCGGGGGGCCGAGAGTTGAGTCCCAAGCAAGAAGGAGCCTCGTGGACTTTCTAAGGACTGGTGGGAAGTGTACAGCAGGGGCCCCTGGCTGCTGGAGGGGCCCGTCCAGGGAGCGGGCATGGTCCGCGGTGGAGTAAGCCGCACTGCCGTCGGGAGGGCGCTATGGTTTGCTAGGTGAGGGGGCTGGTGAGGATACCACACGTCTGGGGATCCTC... | AGACAAAAGAAAATCGAGGCCCTGACTGAGCAGATGGTGCGGAGGAAGCCGGGCGGGCTGCGGTGGGCCTCTGAGGACACGAGGAGGGCAGGGGGCATGGAGACAGCGGGGGGCCGAGAGTTGAGTCCCAAGCAAGAAGGAGCCTCGTGGACTTTCTAAGGACTGGTGGGAAGTGTACAGCAGGGGCCCCTGGCTGCTGGAGGGGCCCGTCCAGGGAGCGGGCATGGTCCGCGGTGGAGTAAGCCGCACTGCCGTCGGGAGGGCGCTATGGTTTGCTAGGTGAGGGGGCTGGTGAGGATACCACACGTCTGGGGATCCTC... |
Task1_train_12823 | An alteration has been detected in NPR2 (natriuretic peptide receptor 2) on Chromosome 9. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Acromesomelic dysplasia 1, Maroteaux type | GATGGTGCGGAGGAAGCCGGGCGGGCTGCGGTGGGCCTCTGAGGACACGAGGAGGGCAGGGGGCATGGAGACAGCGGGGGGCCGAGAGTTGAGTCCCAAGCAAGAAGGAGCCTCGTGGACTTTCTAAGGACTGGTGGGAAGTGTACAGCAGGGGCCCCTGGCTGCTGGAGGGGCCCGTCCAGGGAGCGGGCATGGTCCGCGGTGGAGTAAGCCGCACTGCCGTCGGGAGGGCGCTATGGTTTGCTAGGTGAGGGGGCTGGTGAGGATACCACACGTCTGGGGATCCTCGACTGCTTCCTGGAGACTGGAACCACTGAGGG... | GATGGTGCGGAGGAAGCCGGGCGGGCTGCGGTGGGCCTCTGAGGACACGAGGAGGGCAGGGGGCATGGAGACAGCGGGGGGCCGAGAGTTGAGTCCCAAGCAAGAAGGAGCCTCGTGGACTTTCTAAGGACTGGTGGGAAGTGTACAGCAGGGGCCCCTGGCTGCTGGAGGGGCCCGTCCAGGGAGCGGGCATGGTCCGCGGTGGAGTAAGCCGCACTGCCGTCGGGAGGGCGCTATGGTTTGCTAGGTGAGGGGGCTGGTGAGGATACCACACGTCTGGGGATCCTCGACTGCTTCCTGGAGACTGGAACCACTGAGGG... |
Task1_train_12824 | Here is a genetic alteration in NPR2 (natriuretic peptide receptor 2) on Chromosome 9. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Tall stature-scoliosis-macrodactyly of the great toes syndrome | TGTATTGGTGATCACGTACCGAGAACCCCCAAATCCTGAGTATCAGGAATTCCAGAATCGTCTGCTGATAAGAGCCCGGGAAGACTTTGGTGTGGAGCTGGGCCCTTCCCTGGTAAGTAGATCTCTCCCTTCCTGAGAGTCAGGTCAAGCTTTGGGGAAGGGCTTCTCTCCCAAACTCAGCATCAAGTCTTGGCTGTGGAGCAAGCCCAACTTTGGGGGGTCTCCGCTTCTGTCCAGGATTTTTCCTTCTGCCCTATGGAGTAGTTAGGAAGGGATGGCACTTTAGGAATAAGAGGGAAGAAAGCAAACCAGAAGAGAGA... | TGTATTGGTGATCACGTACCGAGAACCCCCAAATCCTGAGTATCAGGAATTCCAGAATCGTCTGCTGATAAGAGCCCGGGAAGACTTTGGTGTGGAGCTGGGCCCTTCCCTGGTAAGTAGATCTCTCCCTTCCTGAGAGTCAGGTCAAGCTTTGGGGAAGGGCTTCTCTCCCAAACTCAGCATCAAGTCTTGGCTGTGGAGCAAGCCCAACTTTGGGGGGTCTCCGCTTCTGTCCAGGATTTTTCCTTCTGCCCTATGGAGTAGTTAGGAAGGGATGGCACTTTAGGAATAAGAGGGAAGAAAGCAAACCAGAAGAGAGA... |
Task1_train_12825 | The gene NPR2 (natriuretic peptide receptor 2) on Chromosome 9 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Disproportionate short stature | ACTTTAGGAATAAGAGGGAAGAAAGCAAACCAGAAGAGAGAATAGGTAGAAGGGAGACCCCAGAGAGAGGGGAAGGGGCCTTGCAGGACATTTGGAGAGTACTGCTGAAGTTGCCACCCCCAGATGAACCTCATCGCTGGCTGCTTCTATGATGGGATCCTGCTATATGCTGAAGTCCTGAATGAGACAATACAGGAAGGAGGCACCCGGGAGGATGGACTTCGAATTGTGGAAAAGATGCAGGGACGAAGATATCACGGTAATGAAGAGGGGTCAATGGGGGTCTGAGGGCTGATGTCAGGAATAGAGTGGGCTGAAGA... | ACTTTAGGAATAAGAGGGAAGAAAGCAAACCAGAAGAGAGAATAGGTAGAAGGGAGACCCCAGAGAGAGGGGAAGGGGCCTTGCAGGACATTTGGAGAGTACTGCTGAAGTTGCCACCCCCAGATGAACCTCATCGCTGGCTGCTTCTATGATGGGATCCTGCTATATGCTGAAGTCCTGAATGAGACAATACAGGAAGGAGGCACCCGGGAGGATGGACTTCGAATTGTGGAAAAGATGCAGGGACGAAGATATCACGGTAATGAAGAGGGGTCAATGGGGGTCTGAGGGCTGATGTCAGGAATAGAGTGGGCTGAAGA... |
Task1_train_12826 | This is a variant in NPR2 (natriuretic peptide receptor 2), located on Chromosome 9. Is this mutation a likely cause of disease or not? | Pathogenic; Tall stature-scoliosis-macrodactyly of the great toes syndrome | TTAAAAAAGGAACATTTACTAGTAGAACTAAGAGAAACCAAGGAAGATTGTACTAAAAACCTTTGGTACTCTTCTGTTATACTAGGTTTTAGCTATGTTCAAATGACTCAGAGGCCCATGGATTTGTGGAGCATAAAATAGAATCTTGCATGAGTTGGACAGGTTTTCTGAAATAAGTCTCATAGCCAATGAGCATCCCAGTGGATCACCCCACACTGTATCTGAAACTAGCTTTGGTTTTCTGCTGAATTCTCATGAAGTTATTTAAAAAGTATTTTTTTGTGTGTGAAAATTTGCTATCAAATGAGAGATAAAAATAT... | TTAAAAAAGGAACATTTACTAGTAGAACTAAGAGAAACCAAGGAAGATTGTACTAAAAACCTTTGGTACTCTTCTGTTATACTAGGTTTTAGCTATGTTCAAATGACTCAGAGGCCCATGGATTTGTGGAGCATAAAATAGAATCTTGCATGAGTTGGACAGGTTTTCTGAAATAAGTCTCATAGCCAATGAGCATCCCAGTGGATCACCCCACACTGTATCTGAAACTAGCTTTGGTTTTCTGCTGAATTCTCATGAAGTTATTTAAAAAGTATTTTTTTGTGTGTGAAAATTTGCTATCAAATGAGAGATAAAAATAT... |
Task1_train_12827 | This alteration in NPR2 (natriuretic peptide receptor 2) on Chromosome 9 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Acromesomelic dysplasia 1, Maroteaux type | TAAACATTTAGACAGAAATGTTTTTTGTTAGCATATTGAACCTTGTATCCTCTTTCTGTCTCACCTGAACTGACTTGGGTGGCTCCTAGGGTTTCATTTTTGGGGAGCATCATTAAGACTTTTTTTTTTTTTTTTCTGAGACAGGGTCTTATTCTGTCACCCAGGCTAGAGTGTAGTGGCTAGGTCACTGCTCACTGCAGCTTCGACCTCCTGGGCTCAAGTGATTCTCCCATCTTAGCCTCCTGAGTAGCTGGGACCACAGCGTGTGCTGCAGTGCCCGGCTCATTTTTATATTTTTGGTAGAGGTGGGGTTTCGCCAT... | TAAACATTTAGACAGAAATGTTTTTTGTTAGCATATTGAACCTTGTATCCTCTTTCTGTCTCACCTGAACTGACTTGGGTGGCTCCTAGGGTTTCATTTTTGGGGAGCATCATTAAGACTTTTTTTTTTTTTTTTCTGAGACAGGGTCTTATTCTGTCACCCAGGCTAGAGTGTAGTGGCTAGGTCACTGCTCACTGCAGCTTCGACCTCCTGGGCTCAAGTGATTCTCCCATCTTAGCCTCCTGAGTAGCTGGGACCACAGCGTGTGCTGCAGTGCCCGGCTCATTTTTATATTTTTGGTAGAGGTGGGGTTTCGCCAT... |
Task1_train_12828 | Gene NPR2 (natriuretic peptide receptor 2) on Chromosome 9 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Tall stature-scoliosis-macrodactyly of the great toes syndrome | TCCCTGGTGGCTGGGTGCCTGTGTCCTGCTTATGATACCAGGAACAGATGACTCTTCTGTTCTTCCTGCTTCCTTGGGTGGAAACTGCAAAGGATGCCTTCCAAAATCAGCTTATTATTTTTGTGGACCCAAGATCTGTAGACAGCTAGCCAGTGCCCATCTCATGGAGAGAGGGTATTCTAAGCCAGATATGATCCAATCCCATGACTTGATCTGTACCCTGCAGGGCATGGCCTTTCTCCACAACAGCATTATTTCATCGCATGGGAGTCTCAAGTCCTCCAACTGTGTGGTGGATAGTCGTTTTGTGCTCAAAATCA... | TCCCTGGTGGCTGGGTGCCTGTGTCCTGCTTATGATACCAGGAACAGATGACTCTTCTGTTCTTCCTGCTTCCTTGGGTGGAAACTGCAAAGGATGCCTTCCAAAATCAGCTTATTATTTTTGTGGACCCAAGATCTGTAGACAGCTAGCCAGTGCCCATCTCATGGAGAGAGGGTATTCTAAGCCAGATATGATCCAATCCCATGACTTGATCTGTACCCTGCAGGGCATGGCCTTTCTCCACAACAGCATTATTTCATCGCATGGGAGTCTCAAGTCCTCCAACTGTGTGGTGGATAGTCGTTTTGTGCTCAAAATCA... |
Task1_train_12829 | This mutation is located in gene NPR2, SPAG8 (natriuretic peptide receptor 2| sperm associated antigen 8) on Chromosome 9. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Acromesomelic dysplasia 1, Maroteaux type | CTTGCTTCAGCAAGTGTATGTAAAACAGTCCCAACTTGAGACAGCTCCCATGCACAGGGATTCCCCTCAAACCCCCCCGCCACTTGTGTGCCTTACCTTGCATTAGACTGTAATGTCTTCCCAGCCACTTTCCTCCCTCCCACCTGAAAAGCCTAGCTTTCTTGTTACAGCTCATCTCTGCTGCAGCCACATACACTTTCCCTCTCTCTTCCACTCCTGCTCTCTTGGAGTTTGGCTCATACGGCACCCTTGCTTCCTAGTTCAGTGGCAGAGCAGTTAAAACGGGGAGAGACTGTACAGGCTGAGGCCTTTGACAGTGT... | CTTGCTTCAGCAAGTGTATGTAAAACAGTCCCAACTTGAGACAGCTCCCATGCACAGGGATTCCCCTCAAACCCCCCCGCCACTTGTGTGCCTTACCTTGCATTAGACTGTAATGTCTTCCCAGCCACTTTCCTCCCTCCCACCTGAAAAGCCTAGCTTTCTTGTTACAGCTCATCTCTGCTGCAGCCACATACACTTTCCCTCTCTCTTCCACTCCTGCTCTCTTGGAGTTTGGCTCATACGGCACCCTTGCTTCCTAGTTCAGTGGCAGAGCAGTTAAAACGGGGAGAGACTGTACAGGCTGAGGCCTTTGACAGTGT... |
Task1_train_12830 | A mutation on Chromosome 9 affecting SPAG8, NPR2 (sperm associated antigen 8| natriuretic peptide receptor 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Acromesomelic dysplasia 1, Maroteaux type | AAACAGTCCCAACTTGAGACAGCTCCCATGCACAGGGATTCCCCTCAAACCCCCCCGCCACTTGTGTGCCTTACCTTGCATTAGACTGTAATGTCTTCCCAGCCACTTTCCTCCCTCCCACCTGAAAAGCCTAGCTTTCTTGTTACAGCTCATCTCTGCTGCAGCCACATACACTTTCCCTCTCTCTTCCACTCCTGCTCTCTTGGAGTTTGGCTCATACGGCACCCTTGCTTCCTAGTTCAGTGGCAGAGCAGTTAAAACGGGGAGAGACTGTACAGGCTGAGGCCTTTGACAGTGTTACCATCTACTTCAGTGACATT... | AAACAGTCCCAACTTGAGACAGCTCCCATGCACAGGGATTCCCCTCAAACCCCCCCGCCACTTGTGTGCCTTACCTTGCATTAGACTGTAATGTCTTCCCAGCCACTTTCCTCCCTCCCACCTGAAAAGCCTAGCTTTCTTGTTACAGCTCATCTCTGCTGCAGCCACATACACTTTCCCTCTCTCTTCCACTCCTGCTCTCTTGGAGTTTGGCTCATACGGCACCCTTGCTTCCTAGTTCAGTGGCAGAGCAGTTAAAACGGGGAGAGACTGTACAGGCTGAGGCCTTTGACAGTGTTACCATCTACTTCAGTGACATT... |
Task1_train_12831 | This sequence variant lies in GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Thrombocytopenia 12 with or without myopathy | ACTGGTAAAATTTCACAGCAGAGAGGAATATTTCATTAAATTCAGCTGATAGGGTCAAGGATACATTAAGTCATTTACAAATCAGATATTAGTATTAAAGTTTTTGGTGGCCTAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCAC... | ACTGGTAAAATTTCACAGCAGAGAGGAATATTTCATTAAATTCAGCTGATAGGGTCAAGGATACATTAAGTCATTTACAAATCAGATATTAGTATTAAAGTTTTTGGTGGCCTAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCAC... |
Task1_train_12832 | Given this variant in gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; GNE myopathy | ACTGGTAAAATTTCACAGCAGAGAGGAATATTTCATTAAATTCAGCTGATAGGGTCAAGGATACATTAAGTCATTTACAAATCAGATATTAGTATTAAAGTTTTTGGTGGCCTAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCAC... | ACTGGTAAAATTTCACAGCAGAGAGGAATATTTCATTAAATTCAGCTGATAGGGTCAAGGATACATTAAGTCATTTACAAATCAGATATTAGTATTAAAGTTTTTGGTGGCCTAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCAC... |
Task1_train_12833 | Here’s a variant in GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) located on Chromosome 9. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Sialuria | ACTGGTAAAATTTCACAGCAGAGAGGAATATTTCATTAAATTCAGCTGATAGGGTCAAGGATACATTAAGTCATTTACAAATCAGATATTAGTATTAAAGTTTTTGGTGGCCTAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCAC... | ACTGGTAAAATTTCACAGCAGAGAGGAATATTTCATTAAATTCAGCTGATAGGGTCAAGGATACATTAAGTCATTTACAAATCAGATATTAGTATTAAAGTTTTTGGTGGCCTAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCAC... |
Task1_train_12834 | Here is a variant affecting GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Sialuria | ACTGGTAAAATTTCACAGCAGAGAGGAATATTTCATTAAATTCAGCTGATAGGGTCAAGGATACATTAAGTCATTTACAAATCAGATATTAGTATTAAAGTTTTTGGTGGCCTAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCAC... | ACTGGTAAAATTTCACAGCAGAGAGGAATATTTCATTAAATTCAGCTGATAGGGTCAAGGATACATTAAGTCATTTACAAATCAGATATTAGTATTAAAGTTTTTGGTGGCCTAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCAC... |
Task1_train_12835 | This variant affects the gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) found on Chromosome 9. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; GNE myopathy | ACTGGTAAAATTTCACAGCAGAGAGGAATATTTCATTAAATTCAGCTGATAGGGTCAAGGATACATTAAGTCATTTACAAATCAGATATTAGTATTAAAGTTTTTGGTGGCCTAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCAC... | ACTGGTAAAATTTCACAGCAGAGAGGAATATTTCATTAAATTCAGCTGATAGGGTCAAGGATACATTAAGTCATTTACAAATCAGATATTAGTATTAAAGTTTTTGGTGGCCTAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCAC... |
Task1_train_12836 | An alteration has been detected in GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9. Is it pathogenic, and if so, what disease is involved? | Pathogenic; GNE myopathy | ACTGGTAAAATTTCACAGCAGAGAGGAATATTTCATTAAATTCAGCTGATAGGGTCAAGGATACATTAAGTCATTTACAAATCAGATATTAGTATTAAAGTTTTTGGTGGCCTAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCAC... | ACTGGTAAAATTTCACAGCAGAGAGGAATATTTCATTAAATTCAGCTGATAGGGTCAAGGATACATTAAGTCATTTACAAATCAGATATTAGTATTAAAGTTTTTGGTGGCCTAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCAC... |
Task1_train_12837 | The gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Sialuria | ACTGGTAAAATTTCACAGCAGAGAGGAATATTTCATTAAATTCAGCTGATAGGGTCAAGGATACATTAAGTCATTTACAAATCAGATATTAGTATTAAAGTTTTTGGTGGCCTAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCAC... | ACTGGTAAAATTTCACAGCAGAGAGGAATATTTCATTAAATTCAGCTGATAGGGTCAAGGATACATTAAGTCATTTACAAATCAGATATTAGTATTAAAGTTTTTGGTGGCCTAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCAC... |
Task1_train_12838 | Consider a variant on Chromosome 9 in gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase). Determine its clinical classification and disease relevance. | Pathogenic; Myopathy, autophagic vacuolar, infantile-onset | TAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCACCTAGTTCAGAGCCTGGCACACAGTAGGCACTTAATAAGTGGTGGCAGTTAGTATTTCTTCCAAGTTAACAATTCATAGCCAGAACTTTGGCTTTTGTATTTTGACACCAATG... | TAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCACCTAGTTCAGAGCCTGGCACACAGTAGGCACTTAATAAGTGGTGGCAGTTAGTATTTCTTCCAAGTTAACAATTCATAGCCAGAACTTTGGCTTTTGTATTTTGACACCAATG... |
Task1_train_12839 | A mutation found in GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; GNE myopathy | TAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCACCTAGTTCAGAGCCTGGCACACAGTAGGCACTTAATAAGTGGTGGCAGTTAGTATTTCTTCCAAGTTAACAATTCATAGCCAGAACTTTGGCTTTTGTATTTTGACACCAATG... | TAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCACCTAGTTCAGAGCCTGGCACACAGTAGGCACTTAATAAGTGGTGGCAGTTAGTATTTCTTCCAAGTTAACAATTCATAGCCAGAACTTTGGCTTTTGTATTTTGACACCAATG... |
Task1_train_12840 | This variant affects the gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) found on Chromosome 9. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Sialuria | TAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCACCTAGTTCAGAGCCTGGCACACAGTAGGCACTTAATAAGTGGTGGCAGTTAGTATTTCTTCCAAGTTAACAATTCATAGCCAGAACTTTGGCTTTTGTATTTTGACACCAATG... | TAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCACCTAGTTCAGAGCCTGGCACACAGTAGGCACTTAATAAGTGGTGGCAGTTAGTATTTCTTCCAAGTTAACAATTCATAGCCAGAACTTTGGCTTTTGTATTTTGACACCAATG... |
Task1_train_12841 | Here is a mutation in GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; GNE myopathy | TAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCACCTAGTTCAGAGCCTGGCACACAGTAGGCACTTAATAAGTGGTGGCAGTTAGTATTTCTTCCAAGTTAACAATTCATAGCCAGAACTTTGGCTTTTGTATTTTGACACCAATG... | TAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCACCTAGTTCAGAGCCTGGCACACAGTAGGCACTTAATAAGTGGTGGCAGTTAGTATTTCTTCCAAGTTAACAATTCATAGCCAGAACTTTGGCTTTTGTATTTTGACACCAATG... |
Task1_train_12842 | This mutation occurs in GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Thrombocytopenia 12 with or without myopathy | TAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCACCTAGTTCAGAGCCTGGCACACAGTAGGCACTTAATAAGTGGTGGCAGTTAGTATTTCTTCCAAGTTAACAATTCATAGCCAGAACTTTGGCTTTTGTATTTTGACACCAATG... | TAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCACCTAGTTCAGAGCCTGGCACACAGTAGGCACTTAATAAGTGGTGGCAGTTAGTATTTCTTCCAAGTTAACAATTCATAGCCAGAACTTTGGCTTTTGTATTTTGACACCAATG... |
Task1_train_12843 | A genomic change on Chromosome 9 affects GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Sialuria | TAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCACCTAGTTCAGAGCCTGGCACACAGTAGGCACTTAATAAGTGGTGGCAGTTAGTATTTCTTCCAAGTTAACAATTCATAGCCAGAACTTTGGCTTTTGTATTTTGACACCAATG... | TAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCACCTAGTTCAGAGCCTGGCACACAGTAGGCACTTAATAAGTGGTGGCAGTTAGTATTTCTTCCAAGTTAACAATTCATAGCCAGAACTTTGGCTTTTGTATTTTGACACCAATG... |
Task1_train_12844 | A mutation in GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase), located on Chromosome 9, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; GNE myopathy | TAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCACCTAGTTCAGAGCCTGGCACACAGTAGGCACTTAATAAGTGGTGGCAGTTAGTATTTCTTCCAAGTTAACAATTCATAGCCAGAACTTTGGCTTTTGTATTTTGACACCAATG... | TAGAGTGAATTAGAATATGTTAGCATTTTGAAAGTGTTTTTGAAATGAGAGGTTGTGTGGCTCAGCAGCAAAAGCACAGAGGGACCTGGGATCAAACCCTCTCTCTAGCCCCATAGCTTAACAGTCAAACACACCAAGTTCTATAAAATAAAAATTAAAACACCTACCTCATATGTTGAGATAATTTAGGATAATGTATATGAAGCACCTAGTTCAGAGCCTGGCACACAGTAGGCACTTAATAAGTGGTGGCAGTTAGTATTTCTTCCAAGTTAACAATTCATAGCCAGAACTTTGGCTTTTGTATTTTGACACCAATG... |
Task1_train_12845 | A variant was discovered on Chromosome 9, affecting GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Sialuria | TACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCC... | TACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCC... |
Task1_train_12846 | Assess the clinical impact of this variant on gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase), found on Chromosome 9. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; GNE myopathy | TACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCC... | TACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCC... |
Task1_train_12847 | The gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase), on Chromosome 9, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; GNE myopathy | TACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCC... | TACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCC... |
Task1_train_12848 | The gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Hereditary nonpolyposis colon cancer | TACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCC... | TACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCC... |
Task1_train_12849 | Here is a genetic alteration in GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Thrombocytopenia 12 with or without myopathy | TACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCC... | TACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCC... |
Task1_train_12850 | The gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Sialuria | TACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCC... | TACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCC... |
Task1_train_12851 | Gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Thrombocytopenia 12 with or without myopathy | TACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCC... | TACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCC... |
Task1_train_12852 | A mutation found in GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; GNE myopathy | TACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCC... | TACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCC... |
Task1_train_12853 | Here is a mutation in GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; GNE myopathy | ACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCC... | ACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCC... |
Task1_train_12854 | A genomic change on Chromosome 9 affects GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Sialuria | ACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCC... | ACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCC... |
Task1_train_12855 | Consider this mutation in GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9. Is this a benign change or a disease-causing variant? | Pathogenic; GNE myopathy | ACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCC... | ACATATGTCAAGGCTTATCAAATTGTAGGCTTTAAAAACAATAAAGCTGTTTTAAAAAAAAGTGTACTTAAGCCCTTCCTGGTAAGATTTCCCTCTGTTCTCTGACTGGATCACCTTCTGTGATCTTAGTTTGGGGTTAGAGGAGGAAGGATGTGTGTGTGTGTGTGTGTGTGTGTGTAGACGGAGTCTCGCTCTGTCACCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACGCCC... |
Task1_train_12856 | A variant found in Chromosome 9 affects GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; GNE myopathy | ACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACC... | ACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACC... |
Task1_train_12857 | Gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Sialuria | ACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACC... | ACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACC... |
Task1_train_12858 | Chromosome 9 houses a mutation in gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; GNE myopathy | ACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACC... | ACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACC... |
Task1_train_12859 | The gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) is located on Chromosome 9, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Sialuria | ACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACC... | ACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACC... |
Task1_train_12860 | This sequence change occurs on Chromosome 9, altering GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; GNE myopathy | ACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACC... | ACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACC... |
Task1_train_12861 | A mutation on Chromosome 9 affecting GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Thrombocytopenia 12 with or without myopathy | ACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACC... | ACTCGAAGGAAATGTTAATAGTTGATACCTCCAAATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACC... |
Task1_train_12862 | Here is a genetic alteration in GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; GNE myopathy | AATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCT... | AATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCT... |
Task1_train_12863 | The variant affects gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase), which is on Chromosome 9. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Sialuria | AATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCT... | AATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCT... |
Task1_train_12864 | A variant was discovered on Chromosome 9, affecting GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; GNE myopathy | AATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCT... | AATGGGAAAACTAAGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCT... |
Task1_train_12865 | Consider a variant on Chromosome 9 in gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase). Determine its clinical classification and disease relevance. | Pathogenic; Sialuria | AGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCA... | AGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCA... |
Task1_train_12866 | Gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase), found on Chromosome 9, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; GNE myopathy | AGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCA... | AGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCA... |
Task1_train_12867 | The gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Thrombocytopenia 12 with or without myopathy | AGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCA... | AGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCA... |
Task1_train_12868 | Consider this mutation in GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9. Is this a benign change or a disease-causing variant? | Pathogenic; Sialuria | AGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCA... | AGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCA... |
Task1_train_12869 | This alteration occurs within gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) located on Chromosome 9. Is it associated with a disease or is it a benign variant? | Pathogenic; GNE myopathy | AGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCA... | AGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCA... |
Task1_train_12870 | A change on Chromosome 9 affects gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; GNE myopathy | AGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCA... | AGTGATATTTTTTCTTACAACTGTCCTATATTTCTCTAAATTTCCTGTAAAATGAAAGGAGCATTTTTATAGTTGTCAAACCAAACCAACCACCTGCTGAAAAAGGCAATGCTGCCAAATACCTTGAATCCAATTCCCTTTTTACCTCTGAGTAATTAGGAAAGAAACCTCTGAACAGACACTGCAAAGCACCTGTCCCTAGGGAAGCAGGGTCTCTTCTGGGGCCGGGCTGGGCCATATGATATCTGAGGCCACCCCCTGCAGCACAGCCACCTGCAGCCACATGCTCACCTGTTCTTAGGATGCTCTGGGCCTTCGCA... |
Task1_train_12871 | A mutation on Chromosome 9 affecting GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | AGGTCGAGGCTGGCAGATCCCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAACCACTGTCTCTACAAAAAATACAAAAATTAGCCAGGCATGCTGGCATAAGCCTGTAGTCCCATCTACTCAGGAGGCTGAAGCACAAAAATCACTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAGTCTCAAAAAACAAAAATACATCTAGAGCTGGGCACAGTGGCATGTGCCTGTGGTCCTAGCTATTATACTTGGGAGGCTGAGGCAG... | AGGTCGAGGCTGGCAGATCCCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAACCACTGTCTCTACAAAAAATACAAAAATTAGCCAGGCATGCTGGCATAAGCCTGTAGTCCCATCTACTCAGGAGGCTGAAGCACAAAAATCACTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAGTCTCAAAAAACAAAAATACATCTAGAGCTGGGCACAGTGGCATGTGCCTGTGGTCCTAGCTATTATACTTGGGAGGCTGAGGCAG... |
Task1_train_12872 | The gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Sialuria | CTAGCTCTGCTCTTTCTCCAATTCTTCATAATTGCCACCTTTCTGTTATATTTACATCTTCTTCCCTTCTCATTCCCAGCATATCACTGCCCAATCAGAAATCTAGGCTTCCTTGTTGATTCCTTTCACCTCCGCATCCAAGCATCAGCAAGTACTATAACAAGACCCAAATCTAACTTTTTTCCATCTCTAATACTTCATCAAAGCCACTATCATCTCTCATCTGAGCAACTGAATCAGCCCCCTTACTGGTCTCCCTGCTTTTATTCTTGCCCCCCCGCCCCCCCTCCCGACATTCCATTCTGTATATTAGCAACCGG... | CTAGCTCTGCTCTTTCTCCAATTCTTCATAATTGCCACCTTTCTGTTATATTTACATCTTCTTCCCTTCTCATTCCCAGCATATCACTGCCCAATCAGAAATCTAGGCTTCCTTGTTGATTCCTTTCACCTCCGCATCCAAGCATCAGCAAGTACTATAACAAGACCCAAATCTAACTTTTTTCCATCTCTAATACTTCATCAAAGCCACTATCATCTCTCATCTGAGCAACTGAATCAGCCCCCTTACTGGTCTCCCTGCTTTTATTCTTGCCCCCCCGCCCCCCCTCCCGACATTCCATTCTGTATATTAGCAACCGG... |
Task1_train_12873 | Gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase), found on Chromosome 9, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; GNE myopathy | CTAGCTCTGCTCTTTCTCCAATTCTTCATAATTGCCACCTTTCTGTTATATTTACATCTTCTTCCCTTCTCATTCCCAGCATATCACTGCCCAATCAGAAATCTAGGCTTCCTTGTTGATTCCTTTCACCTCCGCATCCAAGCATCAGCAAGTACTATAACAAGACCCAAATCTAACTTTTTTCCATCTCTAATACTTCATCAAAGCCACTATCATCTCTCATCTGAGCAACTGAATCAGCCCCCTTACTGGTCTCCCTGCTTTTATTCTTGCCCCCCCGCCCCCCCTCCCGACATTCCATTCTGTATATTAGCAACCGG... | CTAGCTCTGCTCTTTCTCCAATTCTTCATAATTGCCACCTTTCTGTTATATTTACATCTTCTTCCCTTCTCATTCCCAGCATATCACTGCCCAATCAGAAATCTAGGCTTCCTTGTTGATTCCTTTCACCTCCGCATCCAAGCATCAGCAAGTACTATAACAAGACCCAAATCTAACTTTTTTCCATCTCTAATACTTCATCAAAGCCACTATCATCTCTCATCTGAGCAACTGAATCAGCCCCCTTACTGGTCTCCCTGCTTTTATTCTTGCCCCCCCGCCCCCCCTCCCGACATTCCATTCTGTATATTAGCAACCGG... |
Task1_train_12874 | A variant on Chromosome 9 in gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Sialuria | CTAGCTCTGCTCTTTCTCCAATTCTTCATAATTGCCACCTTTCTGTTATATTTACATCTTCTTCCCTTCTCATTCCCAGCATATCACTGCCCAATCAGAAATCTAGGCTTCCTTGTTGATTCCTTTCACCTCCGCATCCAAGCATCAGCAAGTACTATAACAAGACCCAAATCTAACTTTTTTCCATCTCTAATACTTCATCAAAGCCACTATCATCTCTCATCTGAGCAACTGAATCAGCCCCCTTACTGGTCTCCCTGCTTTTATTCTTGCCCCCCCGCCCCCCCTCCCGACATTCCATTCTGTATATTAGCAACCGG... | CTAGCTCTGCTCTTTCTCCAATTCTTCATAATTGCCACCTTTCTGTTATATTTACATCTTCTTCCCTTCTCATTCCCAGCATATCACTGCCCAATCAGAAATCTAGGCTTCCTTGTTGATTCCTTTCACCTCCGCATCCAAGCATCAGCAAGTACTATAACAAGACCCAAATCTAACTTTTTTCCATCTCTAATACTTCATCAAAGCCACTATCATCTCTCATCTGAGCAACTGAATCAGCCCCCTTACTGGTCTCCCTGCTTTTATTCTTGCCCCCCCGCCCCCCCTCCCGACATTCCATTCTGTATATTAGCAACCGG... |
Task1_train_12875 | Consider a variant on Chromosome 9 in gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase). Determine its clinical classification and disease relevance. | Pathogenic; Thrombocytopenia 12 with or without myopathy | TGCCACTCATTTAACCAAAGCTGTGCATGCATGGTTCTCAATTTTTTTAACTTTTATTGTGTTGCAAGGTAGGTAAATGGACTCAGGGTCTAATTCCCTGGAGAAGGCCTGGCCACTTCTCTCTATATACAGTCTTGCCAGAGCATCATCTGTAATTATTGTACAGGTTGAGCATCCCTTATTCGACATGGTTGGGACCAGAAATATTTTGGGTTTCAAGTTTTTTTGGATTTTGAAATATTTGTTATTCTGTAATACTTACCAGATCAGCATCCCCAATCTGAACATCCAAAATCCAACTGCTCCAATAAACGCTTCCT... | TGCCACTCATTTAACCAAAGCTGTGCATGCATGGTTCTCAATTTTTTTAACTTTTATTGTGTTGCAAGGTAGGTAAATGGACTCAGGGTCTAATTCCCTGGAGAAGGCCTGGCCACTTCTCTCTATATACAGTCTTGCCAGAGCATCATCTGTAATTATTGTACAGGTTGAGCATCCCTTATTCGACATGGTTGGGACCAGAAATATTTTGGGTTTCAAGTTTTTTTGGATTTTGAAATATTTGTTATTCTGTAATACTTACCAGATCAGCATCCCCAATCTGAACATCCAAAATCCAACTGCTCCAATAAACGCTTCCT... |
Task1_train_12876 | This genomic variant is located on Chromosome 9, within the GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; GNE myopathy | TGCCACTCATTTAACCAAAGCTGTGCATGCATGGTTCTCAATTTTTTTAACTTTTATTGTGTTGCAAGGTAGGTAAATGGACTCAGGGTCTAATTCCCTGGAGAAGGCCTGGCCACTTCTCTCTATATACAGTCTTGCCAGAGCATCATCTGTAATTATTGTACAGGTTGAGCATCCCTTATTCGACATGGTTGGGACCAGAAATATTTTGGGTTTCAAGTTTTTTTGGATTTTGAAATATTTGTTATTCTGTAATACTTACCAGATCAGCATCCCCAATCTGAACATCCAAAATCCAACTGCTCCAATAAACGCTTCCT... | TGCCACTCATTTAACCAAAGCTGTGCATGCATGGTTCTCAATTTTTTTAACTTTTATTGTGTTGCAAGGTAGGTAAATGGACTCAGGGTCTAATTCCCTGGAGAAGGCCTGGCCACTTCTCTCTATATACAGTCTTGCCAGAGCATCATCTGTAATTATTGTACAGGTTGAGCATCCCTTATTCGACATGGTTGGGACCAGAAATATTTTGGGTTTCAAGTTTTTTTGGATTTTGAAATATTTGTTATTCTGTAATACTTACCAGATCAGCATCCCCAATCTGAACATCCAAAATCCAACTGCTCCAATAAACGCTTCCT... |
Task1_train_12877 | A mutation found in GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Sialuria | TGCCACTCATTTAACCAAAGCTGTGCATGCATGGTTCTCAATTTTTTTAACTTTTATTGTGTTGCAAGGTAGGTAAATGGACTCAGGGTCTAATTCCCTGGAGAAGGCCTGGCCACTTCTCTCTATATACAGTCTTGCCAGAGCATCATCTGTAATTATTGTACAGGTTGAGCATCCCTTATTCGACATGGTTGGGACCAGAAATATTTTGGGTTTCAAGTTTTTTTGGATTTTGAAATATTTGTTATTCTGTAATACTTACCAGATCAGCATCCCCAATCTGAACATCCAAAATCCAACTGCTCCAATAAACGCTTCCT... | TGCCACTCATTTAACCAAAGCTGTGCATGCATGGTTCTCAATTTTTTTAACTTTTATTGTGTTGCAAGGTAGGTAAATGGACTCAGGGTCTAATTCCCTGGAGAAGGCCTGGCCACTTCTCTCTATATACAGTCTTGCCAGAGCATCATCTGTAATTATTGTACAGGTTGAGCATCCCTTATTCGACATGGTTGGGACCAGAAATATTTTGGGTTTCAAGTTTTTTTGGATTTTGAAATATTTGTTATTCTGTAATACTTACCAGATCAGCATCCCCAATCTGAACATCCAAAATCCAACTGCTCCAATAAACGCTTCCT... |
Task1_train_12878 | Gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase), found on Chromosome 9, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; GNE myopathy | TGCCACTCATTTAACCAAAGCTGTGCATGCATGGTTCTCAATTTTTTTAACTTTTATTGTGTTGCAAGGTAGGTAAATGGACTCAGGGTCTAATTCCCTGGAGAAGGCCTGGCCACTTCTCTCTATATACAGTCTTGCCAGAGCATCATCTGTAATTATTGTACAGGTTGAGCATCCCTTATTCGACATGGTTGGGACCAGAAATATTTTGGGTTTCAAGTTTTTTTGGATTTTGAAATATTTGTTATTCTGTAATACTTACCAGATCAGCATCCCCAATCTGAACATCCAAAATCCAACTGCTCCAATAAACGCTTCCT... | TGCCACTCATTTAACCAAAGCTGTGCATGCATGGTTCTCAATTTTTTTAACTTTTATTGTGTTGCAAGGTAGGTAAATGGACTCAGGGTCTAATTCCCTGGAGAAGGCCTGGCCACTTCTCTCTATATACAGTCTTGCCAGAGCATCATCTGTAATTATTGTACAGGTTGAGCATCCCTTATTCGACATGGTTGGGACCAGAAATATTTTGGGTTTCAAGTTTTTTTGGATTTTGAAATATTTGTTATTCTGTAATACTTACCAGATCAGCATCCCCAATCTGAACATCCAAAATCCAACTGCTCCAATAAACGCTTCCT... |
Task1_train_12879 | This variant affects the gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) found on Chromosome 9. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Sialuria | TGCCACTCATTTAACCAAAGCTGTGCATGCATGGTTCTCAATTTTTTTAACTTTTATTGTGTTGCAAGGTAGGTAAATGGACTCAGGGTCTAATTCCCTGGAGAAGGCCTGGCCACTTCTCTCTATATACAGTCTTGCCAGAGCATCATCTGTAATTATTGTACAGGTTGAGCATCCCTTATTCGACATGGTTGGGACCAGAAATATTTTGGGTTTCAAGTTTTTTTGGATTTTGAAATATTTGTTATTCTGTAATACTTACCAGATCAGCATCCCCAATCTGAACATCCAAAATCCAACTGCTCCAATAAACGCTTCCT... | TGCCACTCATTTAACCAAAGCTGTGCATGCATGGTTCTCAATTTTTTTAACTTTTATTGTGTTGCAAGGTAGGTAAATGGACTCAGGGTCTAATTCCCTGGAGAAGGCCTGGCCACTTCTCTCTATATACAGTCTTGCCAGAGCATCATCTGTAATTATTGTACAGGTTGAGCATCCCTTATTCGACATGGTTGGGACCAGAAATATTTTGGGTTTCAAGTTTTTTTGGATTTTGAAATATTTGTTATTCTGTAATACTTACCAGATCAGCATCCCCAATCTGAACATCCAAAATCCAACTGCTCCAATAAACGCTTCCT... |
Task1_train_12880 | This alteration occurs within gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) located on Chromosome 9. Is it associated with a disease or is it a benign variant? | Pathogenic; GNE myopathy | TGCCACTCATTTAACCAAAGCTGTGCATGCATGGTTCTCAATTTTTTTAACTTTTATTGTGTTGCAAGGTAGGTAAATGGACTCAGGGTCTAATTCCCTGGAGAAGGCCTGGCCACTTCTCTCTATATACAGTCTTGCCAGAGCATCATCTGTAATTATTGTACAGGTTGAGCATCCCTTATTCGACATGGTTGGGACCAGAAATATTTTGGGTTTCAAGTTTTTTTGGATTTTGAAATATTTGTTATTCTGTAATACTTACCAGATCAGCATCCCCAATCTGAACATCCAAAATCCAACTGCTCCAATAAACGCTTCCT... | TGCCACTCATTTAACCAAAGCTGTGCATGCATGGTTCTCAATTTTTTTAACTTTTATTGTGTTGCAAGGTAGGTAAATGGACTCAGGGTCTAATTCCCTGGAGAAGGCCTGGCCACTTCTCTCTATATACAGTCTTGCCAGAGCATCATCTGTAATTATTGTACAGGTTGAGCATCCCTTATTCGACATGGTTGGGACCAGAAATATTTTGGGTTTCAAGTTTTTTTGGATTTTGAAATATTTGTTATTCTGTAATACTTACCAGATCAGCATCCCCAATCTGAACATCCAAAATCCAACTGCTCCAATAAACGCTTCCT... |
Task1_train_12881 | A variant has been detected on Chromosome 9 in GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; GNE myopathy | AGCCTCAACTACTCAGGCTCAAGTGACCCTCCCATCCCAGCCTCCCAGGTAACTAGGACTACATGCACACAGCACCACGCCCAGCTAATTTTCTTATTTTTTGTAGAGACAGCGTCTTGCTATGTTGCCCAGGCTGGCCTTGTAACTCCTAGGCTCAAGCAATACTCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCCACCATACCTGACCCAACCAAATCAATTTTCTGTTCATTAATTTTATAATTCAATAGATCTGCCTCTTAGAAATGAAAGGTCCTAAATAGATTATTAGTCCTAATTTGTCCCC... | AGCCTCAACTACTCAGGCTCAAGTGACCCTCCCATCCCAGCCTCCCAGGTAACTAGGACTACATGCACACAGCACCACGCCCAGCTAATTTTCTTATTTTTTGTAGAGACAGCGTCTTGCTATGTTGCCCAGGCTGGCCTTGTAACTCCTAGGCTCAAGCAATACTCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCCACCATACCTGACCCAACCAAATCAATTTTCTGTTCATTAATTTTATAATTCAATAGATCTGCCTCTTAGAAATGAAAGGTCCTAAATAGATTATTAGTCCTAATTTGTCCCC... |
Task1_train_12882 | A variant was discovered in gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase), Chromosome 9. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Sialuria | AGCCTCAACTACTCAGGCTCAAGTGACCCTCCCATCCCAGCCTCCCAGGTAACTAGGACTACATGCACACAGCACCACGCCCAGCTAATTTTCTTATTTTTTGTAGAGACAGCGTCTTGCTATGTTGCCCAGGCTGGCCTTGTAACTCCTAGGCTCAAGCAATACTCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCCACCATACCTGACCCAACCAAATCAATTTTCTGTTCATTAATTTTATAATTCAATAGATCTGCCTCTTAGAAATGAAAGGTCCTAAATAGATTATTAGTCCTAATTTGTCCCC... | AGCCTCAACTACTCAGGCTCAAGTGACCCTCCCATCCCAGCCTCCCAGGTAACTAGGACTACATGCACACAGCACCACGCCCAGCTAATTTTCTTATTTTTTGTAGAGACAGCGTCTTGCTATGTTGCCCAGGCTGGCCTTGTAACTCCTAGGCTCAAGCAATACTCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCCACCATACCTGACCCAACCAAATCAATTTTCTGTTCATTAATTTTATAATTCAATAGATCTGCCTCTTAGAAATGAAAGGTCCTAAATAGATTATTAGTCCTAATTTGTCCCC... |
Task1_train_12883 | Chromosome 9 houses a mutation in gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; GNE myopathy | AGCCTCAACTACTCAGGCTCAAGTGACCCTCCCATCCCAGCCTCCCAGGTAACTAGGACTACATGCACACAGCACCACGCCCAGCTAATTTTCTTATTTTTTGTAGAGACAGCGTCTTGCTATGTTGCCCAGGCTGGCCTTGTAACTCCTAGGCTCAAGCAATACTCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCCACCATACCTGACCCAACCAAATCAATTTTCTGTTCATTAATTTTATAATTCAATAGATCTGCCTCTTAGAAATGAAAGGTCCTAAATAGATTATTAGTCCTAATTTGTCCCC... | AGCCTCAACTACTCAGGCTCAAGTGACCCTCCCATCCCAGCCTCCCAGGTAACTAGGACTACATGCACACAGCACCACGCCCAGCTAATTTTCTTATTTTTTGTAGAGACAGCGTCTTGCTATGTTGCCCAGGCTGGCCTTGTAACTCCTAGGCTCAAGCAATACTCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCCACCATACCTGACCCAACCAAATCAATTTTCTGTTCATTAATTTTATAATTCAATAGATCTGCCTCTTAGAAATGAAAGGTCCTAAATAGATTATTAGTCCTAATTTGTCCCC... |
Task1_train_12884 | This gene mutation involves GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9. Is it associated with any clinical condition, or is it benign? | Pathogenic; GNE myopathy | CAGGTAACTAGGACTACATGCACACAGCACCACGCCCAGCTAATTTTCTTATTTTTTGTAGAGACAGCGTCTTGCTATGTTGCCCAGGCTGGCCTTGTAACTCCTAGGCTCAAGCAATACTCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCCACCATACCTGACCCAACCAAATCAATTTTCTGTTCATTAATTTTATAATTCAATAGATCTGCCTCTTAGAAATGAAAGGTCCTAAATAGATTATTAGTCCTAATTTGTCCCCTAGGTAGTACTCTTACTATAAATTAACCAACTGACATTCTGTTTG... | CAGGTAACTAGGACTACATGCACACAGCACCACGCCCAGCTAATTTTCTTATTTTTTGTAGAGACAGCGTCTTGCTATGTTGCCCAGGCTGGCCTTGTAACTCCTAGGCTCAAGCAATACTCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCCACCATACCTGACCCAACCAAATCAATTTTCTGTTCATTAATTTTATAATTCAATAGATCTGCCTCTTAGAAATGAAAGGTCCTAAATAGATTATTAGTCCTAATTTGTCCCCTAGGTAGTACTCTTACTATAAATTAACCAACTGACATTCTGTTTG... |
Task1_train_12885 | This variant affects gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) located on Chromosome 9. Evaluate its biological effect and specify any disease association. | Pathogenic; GNE myopathy | GTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCTTGACCTCGTGATCCGCCCGCCTCGTCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCAAACCTTTTTTCTTTAAGAAAACATTTCATGGTGAAAAGTCTCTCACTTTTGTCTCCCAGTCATCCAATTCTTCTCCCAAGAAGCAACCAATTTCTTGTGTTAGAATGTACCTTAAACATGCATTTTCATTAAGTACTAGTCAAATTTCCTATTTAACGGTCTCATCAGATAAACACTATTCTTCCACCCTTGG... | GTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCTTGACCTCGTGATCCGCCCGCCTCGTCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCAAACCTTTTTTCTTTAAGAAAACATTTCATGGTGAAAAGTCTCTCACTTTTGTCTCCCAGTCATCCAATTCTTCTCCCAAGAAGCAACCAATTTCTTGTGTTAGAATGTACCTTAAACATGCATTTTCATTAAGTACTAGTCAAATTTCCTATTTAACGGTCTCATCAGATAAACACTATTCTTCCACCCTTGG... |
Task1_train_12886 | Here’s a variant in GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) located on Chromosome 9. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Sialuria | GTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCTTGACCTCGTGATCCGCCCGCCTCGTCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCAAACCTTTTTTCTTTAAGAAAACATTTCATGGTGAAAAGTCTCTCACTTTTGTCTCCCAGTCATCCAATTCTTCTCCCAAGAAGCAACCAATTTCTTGTGTTAGAATGTACCTTAAACATGCATTTTCATTAAGTACTAGTCAAATTTCCTATTTAACGGTCTCATCAGATAAACACTATTCTTCCACCCTTGG... | GTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCTTGACCTCGTGATCCGCCCGCCTCGTCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCAAACCTTTTTTCTTTAAGAAAACATTTCATGGTGAAAAGTCTCTCACTTTTGTCTCCCAGTCATCCAATTCTTCTCCCAAGAAGCAACCAATTTCTTGTGTTAGAATGTACCTTAAACATGCATTTTCATTAAGTACTAGTCAAATTTCCTATTTAACGGTCTCATCAGATAAACACTATTCTTCCACCCTTGG... |
Task1_train_12887 | A variant on Chromosome 9 in gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; GNE myopathy | TGGTCTCAATCTCTTGACCTCGTGATCCGCCCGCCTCGTCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCAAACCTTTTTTCTTTAAGAAAACATTTCATGGTGAAAAGTCTCTCACTTTTGTCTCCCAGTCATCCAATTCTTCTCCCAAGAAGCAACCAATTTCTTGTGTTAGAATGTACCTTAAACATGCATTTTCATTAAGTACTAGTCAAATTTCCTATTTAACGGTCTCATCAGATAAACACTATTCTTCCACCCTTGGTAACTGTGGTAGGCAGATAAAAAACCTACTACCATTTCCCT... | TGGTCTCAATCTCTTGACCTCGTGATCCGCCCGCCTCGTCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCAAACCTTTTTTCTTTAAGAAAACATTTCATGGTGAAAAGTCTCTCACTTTTGTCTCCCAGTCATCCAATTCTTCTCCCAAGAAGCAACCAATTTCTTGTGTTAGAATGTACCTTAAACATGCATTTTCATTAAGTACTAGTCAAATTTCCTATTTAACGGTCTCATCAGATAAACACTATTCTTCCACCCTTGGTAACTGTGGTAGGCAGATAAAAAACCTACTACCATTTCCCT... |
Task1_train_12888 | This is a variant in GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase), located on Chromosome 9. Is this mutation a likely cause of disease or not? | Pathogenic; Sialuria | TGGTCTCAATCTCTTGACCTCGTGATCCGCCCGCCTCGTCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCAAACCTTTTTTCTTTAAGAAAACATTTCATGGTGAAAAGTCTCTCACTTTTGTCTCCCAGTCATCCAATTCTTCTCCCAAGAAGCAACCAATTTCTTGTGTTAGAATGTACCTTAAACATGCATTTTCATTAAGTACTAGTCAAATTTCCTATTTAACGGTCTCATCAGATAAACACTATTCTTCCACCCTTGGTAACTGTGGTAGGCAGATAAAAAACCTACTACCATTTCCCT... | TGGTCTCAATCTCTTGACCTCGTGATCCGCCCGCCTCGTCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCAAACCTTTTTTCTTTAAGAAAACATTTCATGGTGAAAAGTCTCTCACTTTTGTCTCCCAGTCATCCAATTCTTCTCCCAAGAAGCAACCAATTTCTTGTGTTAGAATGTACCTTAAACATGCATTTTCATTAAGTACTAGTCAAATTTCCTATTTAACGGTCTCATCAGATAAACACTATTCTTCCACCCTTGGTAACTGTGGTAGGCAGATAAAAAACCTACTACCATTTCCCT... |
Task1_train_12889 | The gene GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) on Chromosome 9 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; GNE myopathy | TGGTCTCAATCTCTTGACCTCGTGATCCGCCCGCCTCGTCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCAAACCTTTTTTCTTTAAGAAAACATTTCATGGTGAAAAGTCTCTCACTTTTGTCTCCCAGTCATCCAATTCTTCTCCCAAGAAGCAACCAATTTCTTGTGTTAGAATGTACCTTAAACATGCATTTTCATTAAGTACTAGTCAAATTTCCTATTTAACGGTCTCATCAGATAAACACTATTCTTCCACCCTTGGTAACTGTGGTAGGCAGATAAAAAACCTACTACCATTTCCCT... | TGGTCTCAATCTCTTGACCTCGTGATCCGCCCGCCTCGTCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCAAACCTTTTTTCTTTAAGAAAACATTTCATGGTGAAAAGTCTCTCACTTTTGTCTCCCAGTCATCCAATTCTTCTCCCAAGAAGCAACCAATTTCTTGTGTTAGAATGTACCTTAAACATGCATTTTCATTAAGTACTAGTCAAATTTCCTATTTAACGGTCTCATCAGATAAACACTATTCTTCCACCCTTGGTAACTGTGGTAGGCAGATAAAAAACCTACTACCATTTCCCT... |
Task1_train_12890 | Given a variant located on Chromosome 9 and affecting PAX5 (paired box 5), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Neurodevelopmental disorder | GGCCGTTTCCCATGTGTCTCATATTTAAAAGTCATCAATCAAGCTAGCAAATCGTTAAATGAAATATGCTCCATCCTCCTACCTTGTTAAATACATCTTCGAAACAACCTGGAAGGCCAGGATCGAATGTAGAATTCTGGGCCTTCTGGGCGTTCTGTGCCAGGATGTGGCCATAGGGGAGCCAGCCTAGCTAAGATCCGTCCTGCTGAGCTCCCCACCCTGGGATCCTCATCACCACGTGGGGCCTTGCACACGCATGTGTGGACACCCAGCCCGCACATCCAAGCTCCGTCCACACTCTCGACAGAGAGCCGGGCCTC... | GGCCGTTTCCCATGTGTCTCATATTTAAAAGTCATCAATCAAGCTAGCAAATCGTTAAATGAAATATGCTCCATCCTCCTACCTTGTTAAATACATCTTCGAAACAACCTGGAAGGCCAGGATCGAATGTAGAATTCTGGGCCTTCTGGGCGTTCTGTGCCAGGATGTGGCCATAGGGGAGCCAGCCTAGCTAAGATCCGTCCTGCTGAGCTCCCCACCCTGGGATCCTCATCACCACGTGGGGCCTTGCACACGCATGTGTGGACACCCAGCCCGCACATCCAAGCTCCGTCCACACTCTCGACAGAGAGCCGGGCCTC... |
Task1_train_12891 | A change on Chromosome 9 affects gene PAX5 (paired box 5). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Neurodevelopmental disorder | ACTTTCTTCCACATTCTGGAGGGAAGGACAGGCCTCATCCAGGAAGGTTTCCTGATCGAGGCCCCTCTCACTCTCCTCCCGTGTCAGAGAAAATGTGCCTTCTGCCGTCTCTCAGAAGGGCTCTGAGCAGAGCAGAGAGGGTGCTTGTGATAGAAACAGACTCTCCTCCCTGAAGTCCAAGATCTAGAGTGTGTGGGGGCGGCTATGCCCAGCACCATAACCATGTCCTACCCAACAGAGGTGTCACTCGACTTGTAAGAGAAAGACTAAAATCCTCAACCCAGTCTACAAGACCAGGCCCACCTCCCCAGCATCATCGC... | ACTTTCTTCCACATTCTGGAGGGAAGGACAGGCCTCATCCAGGAAGGTTTCCTGATCGAGGCCCCTCTCACTCTCCTCCCGTGTCAGAGAAAATGTGCCTTCTGCCGTCTCTCAGAAGGGCTCTGAGCAGAGCAGAGAGGGTGCTTGTGATAGAAACAGACTCTCCTCCCTGAAGTCCAAGATCTAGAGTGTGTGGGGGCGGCTATGCCCAGCACCATAACCATGTCCTACCCAACAGAGGTGTCACTCGACTTGTAAGAGAAAGACTAAAATCCTCAACCCAGTCTACAAGACCAGGCCCACCTCCCCAGCATCATCGC... |
Task1_train_12892 | A mutation on Chromosome 9 affecting PAX5 (paired box 5) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Acute lymphoid leukemia | TCACATACAGAAATATCCATGCATACATCTACACAAGCCCCAGCTTCTGCCTTCTCTTGAAGAATGCAAAAAATCTGGCAAACACCAGACCCATGGTCCTGGCAGCATTCGGCTGGAGCTAAGAAGCACTGCCCCTTTAATCGGACTTGTGCTGCCTAGCTTGCCAGGGACCCAACCTCTCCCCATCGTCTTTTGCCTGGCCTGCTTCCCTCATTACCTTATCTGCCTGGCCCCATGTAAGGCATTAGATTTTGTGACCCCCATGGACTACCTAAGGTTATCTTGCGAACCCCCAATTATATGTGTACTCTACGTTGGGA... | TCACATACAGAAATATCCATGCATACATCTACACAAGCCCCAGCTTCTGCCTTCTCTTGAAGAATGCAAAAAATCTGGCAAACACCAGACCCATGGTCCTGGCAGCATTCGGCTGGAGCTAAGAAGCACTGCCCCTTTAATCGGACTTGTGCTGCCTAGCTTGCCAGGGACCCAACCTCTCCCCATCGTCTTTTGCCTGGCCTGCTTCCCTCATTACCTTATCTGCCTGGCCCCATGTAAGGCATTAGATTTTGTGACCCCCATGGACTACCTAAGGTTATCTTGCGAACCCCCAATTATATGTGTACTCTACGTTGGGA... |
Task1_train_12893 | This mutation occurs in PAX5 (paired box 5) on Chromosome 9. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Neurodevelopmental disorder | TGAACTTGTTTCTTAAAAGGCAGTTCTAATTAGAGTGACATTTTGTCCACTGTGGTTCTTAGTTATGAAAATAATGAGCTATGAAATTCCAATTTATTGTTGACAACTTAAACGGTCAGGCACCGGAGCGGCGCGTAACTTCCGAGTGCCACTCTACCTAGTGACAAATCTATTCCGGGTGCCGGCTGGTCTCGGAAGCATCCCTGTCCCCCTCAATCTCCATGGGAGATTTGGAGGCTCCAGAGCACCAGAACATGAGGACCACATGTTTGGATGTCCCCTCTGAAAAAGGCTCAGTATCTTGCCCTGGGATTTCAAAC... | TGAACTTGTTTCTTAAAAGGCAGTTCTAATTAGAGTGACATTTTGTCCACTGTGGTTCTTAGTTATGAAAATAATGAGCTATGAAATTCCAATTTATTGTTGACAACTTAAACGGTCAGGCACCGGAGCGGCGCGTAACTTCCGAGTGCCACTCTACCTAGTGACAAATCTATTCCGGGTGCCGGCTGGTCTCGGAAGCATCCCTGTCCCCCTCAATCTCCATGGGAGATTTGGAGGCTCCAGAGCACCAGAACATGAGGACCACATGTTTGGATGTCCCCTCTGAAAAAGGCTCAGTATCTTGCCCTGGGATTTCAAAC... |
Task1_train_12894 | Given this context: Chromosome 9, gene GRHPR (glyoxylate and hydroxypyruvate reductase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Primary hyperoxaluria, type II | CCGGCTGGGGCAGGCTTGGAGTTTTGGGGAGTCTCGGAGAAAGTTCTCTGGGGCCCAGTTCTCCTCTTAAGACGACGCTGGGACCTGCAGTTCCGGCTTTGGAGAGGGGAGATTGCCCCTGAGGCAAGGTCCAGGCTAATTCTCCACGCTCCCACAGGACATGTGGGGTCAGGGACATGGCGGTCACTGACCAGGCCCTTGGACGTTTGGCAGGGGGCTTTGATGACTCTTCTTCTTTATATTTACTTATCTTTTTTTTTTTTTTTTTGAGACAGTCTCACTCTGCTGCACAGGCTGGAGTGCAGTGGCTCGATCGATCG... | CCGGCTGGGGCAGGCTTGGAGTTTTGGGGAGTCTCGGAGAAAGTTCTCTGGGGCCCAGTTCTCCTCTTAAGACGACGCTGGGACCTGCAGTTCCGGCTTTGGAGAGGGGAGATTGCCCCTGAGGCAAGGTCCAGGCTAATTCTCCACGCTCCCACAGGACATGTGGGGTCAGGGACATGGCGGTCACTGACCAGGCCCTTGGACGTTTGGCAGGGGGCTTTGATGACTCTTCTTCTTTATATTTACTTATCTTTTTTTTTTTTTTTTTGAGACAGTCTCACTCTGCTGCACAGGCTGGAGTGCAGTGGCTCGATCGATCG... |
Task1_train_12895 | A mutation in GRHPR (glyoxylate and hydroxypyruvate reductase), located on Chromosome 9, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Primary hyperoxaluria, type II | AGGTGGAGGAGCTGGGGCTTGTACTCAGAAGTGTCTGACTGCTGTCTGATCACTGCATTTGATCAGGTTTGTGTTTCCAATGTTAGATAGGAAGAGGATGCAATCCAGCCTCAGCAGCCAGTTCTAGGGGCATATGAGATTTTCAAATTTTGTTCACTGCAACAAAACCTTTGCCAAGGACCCACTTTGTACTGAGCAGGAGAAGGTGGAAGGCAGCAACCGCGCCCATGGTAACAGTAGCTCACGCTGTACCCTGCTCATGGGGAGGTGGATGAAAGGTGGTCAGTGCCCTGGGCTCAGTCAGGAGGTGCAAGTAGCTA... | AGGTGGAGGAGCTGGGGCTTGTACTCAGAAGTGTCTGACTGCTGTCTGATCACTGCATTTGATCAGGTTTGTGTTTCCAATGTTAGATAGGAAGAGGATGCAATCCAGCCTCAGCAGCCAGTTCTAGGGGCATATGAGATTTTCAAATTTTGTTCACTGCAACAAAACCTTTGCCAAGGACCCACTTTGTACTGAGCAGGAGAAGGTGGAAGGCAGCAACCGCGCCCATGGTAACAGTAGCTCACGCTGTACCCTGCTCATGGGGAGGTGGATGAAAGGTGGTCAGTGCCCTGGGCTCAGTCAGGAGGTGCAAGTAGCTA... |
Task1_train_12896 | A genetic alteration is present in GRHPR (glyoxylate and hydroxypyruvate reductase) on Chromosome 9. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Primary hyperoxaluria, type II | GATGTTACCACCAGATGTCTGATTCGTAGTGGGATCCGAGTTGGCTACACCCCAGATGTCCTGACAGATACCACCGCCGAACTCGCAGTCTCCCTGCTACTTACCACCTGCCGCCGGTTGCCGGAGGCCATCGAGGAAGTGAAGAAGTAAGTGAACGCAGACCAGGTGCGGTGGCTCACGGCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGAGCGGATCATGAGGTTAGGAGTTCGAGACCAGTCTGGCCAACATAGTGAAACCCCGTCTCTAGTAAAAATACAAAAAAAATTAGCTGGGTGTGGTGGTGGGTCCCTG... | GATGTTACCACCAGATGTCTGATTCGTAGTGGGATCCGAGTTGGCTACACCCCAGATGTCCTGACAGATACCACCGCCGAACTCGCAGTCTCCCTGCTACTTACCACCTGCCGCCGGTTGCCGGAGGCCATCGAGGAAGTGAAGAAGTAAGTGAACGCAGACCAGGTGCGGTGGCTCACGGCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGAGCGGATCATGAGGTTAGGAGTTCGAGACCAGTCTGGCCAACATAGTGAAACCCCGTCTCTAGTAAAAATACAAAAAAAATTAGCTGGGTGTGGTGGTGGGTCCCTG... |
Task1_train_12897 | This mutation occurs in GRHPR (glyoxylate and hydroxypyruvate reductase) on Chromosome 9. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Primary hyperoxaluria | AAAAATTAGGCAGGCGTGGTGTTACACGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGTGGGAGGATTGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAACCGAGATCATGTCACTGTACTCCAGTCTGGGCGACACAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAGTTGGGGGAAGCATTCCATGTGCAGATGGAGGGACTGGCCCGAGTCAAGGTGGGAGGCGTGCAAACGCAGGCTCTCACAGTGCGTGGCCAGCAGCGTGGGCCCCGGCACGGGGCATGGAGCAGAGTAGACAGTGCTGAGTCCTGCT... | AAAAATTAGGCAGGCGTGGTGTTACACGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGTGGGAGGATTGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAACCGAGATCATGTCACTGTACTCCAGTCTGGGCGACACAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAGTTGGGGGAAGCATTCCATGTGCAGATGGAGGGACTGGCCCGAGTCAAGGTGGGAGGCGTGCAAACGCAGGCTCTCACAGTGCGTGGCCAGCAGCGTGGGCCCCGGCACGGGGCATGGAGCAGAGTAGACAGTGCTGAGTCCTGCT... |
Task1_train_12898 | Here is a mutation in GRHPR (glyoxylate and hydroxypyruvate reductase) on Chromosome 9. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Primary hyperoxaluria, type II | AAAAATTAGGCAGGCGTGGTGTTACACGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGTGGGAGGATTGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAACCGAGATCATGTCACTGTACTCCAGTCTGGGCGACACAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAGTTGGGGGAAGCATTCCATGTGCAGATGGAGGGACTGGCCCGAGTCAAGGTGGGAGGCGTGCAAACGCAGGCTCTCACAGTGCGTGGCCAGCAGCGTGGGCCCCGGCACGGGGCATGGAGCAGAGTAGACAGTGCTGAGTCCTGCT... | AAAAATTAGGCAGGCGTGGTGTTACACGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGTGGGAGGATTGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAACCGAGATCATGTCACTGTACTCCAGTCTGGGCGACACAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAGTTGGGGGAAGCATTCCATGTGCAGATGGAGGGACTGGCCCGAGTCAAGGTGGGAGGCGTGCAAACGCAGGCTCTCACAGTGCGTGGCCAGCAGCGTGGGCCCCGGCACGGGGCATGGAGCAGAGTAGACAGTGCTGAGTCCTGCT... |
Task1_train_12899 | A variant affecting Chromosome 9, within the gene GRHPR (glyoxylate and hydroxypyruvate reductase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Primary hyperoxaluria, type II | CTGGACCTCGTGGAAGCCCCTCTGGCTGTGTGGCTATGGACTCACGCAGAGCACTGTCGGCATCATCGGGCTGGGGCGCATAGGTGAGGCTCCCACCGGCCCGCTTGCCCGCCCCGGCTCTCACAGCGTGGTTTGCATCCCTGGCACCACGTGTCTGAAGGCTGAGAAGACCCACATGCTGTCAGGGCACTTTGCTTGCAGTAGAGATATCTCTAATGAGGGATACAGCTTTGTAAAACACAGGCAAATACATAAATAAACCAAAGCAGGATTCCTTAAGAACTCACCAGGTGATAAAAGCAAGTTGCCTAAGGGTCAGG... | CTGGACCTCGTGGAAGCCCCTCTGGCTGTGTGGCTATGGACTCACGCAGAGCACTGTCGGCATCATCGGGCTGGGGCGCATAGGTGAGGCTCCCACCGGCCCGCTTGCCCGCCCCGGCTCTCACAGCGTGGTTTGCATCCCTGGCACCACGTGTCTGAAGGCTGAGAAGACCCACATGCTGTCAGGGCACTTTGCTTGCAGTAGAGATATCTCTAATGAGGGATACAGCTTTGTAAAACACAGGCAAATACATAAATAAACCAAAGCAGGATTCCTTAAGAACTCACCAGGTGATAAAAGCAAGTTGCCTAAGGGTCAGG... |
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