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_13000 | The gene FBP1 (fructose-bisphosphatase 1) on Chromosome 9 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Fructose-biphosphatase deficiency | CTGGAAGTGATTCTTCTTTCTTACTTTTATGCCTTTTTTAATATTTTCAAAATTTTTGACCACAAGTATACCGGAATATTCTTTTATCGTTGGTAGAAAAATAAATAAATAAATGTCTTTCAAAAAACTATATAGAAAAGAAAGCCATCTCACAACAGTTGCTGGGTGCAGAGCGCAGGGCCCAGCCAGACTGTCCATGGTGCAAAGGAGGAAAGTCTGTGTACAGAGACAAAACATAAAAGCTCCCAGAAAGTTGAAGCCGCTGGAAACCCGAGTACAGCTGTAGCAGTGTTTTCAGCAGAAACCGTCAGCCTGGCTTT... | CTGGAAGTGATTCTTCTTTCTTACTTTTATGCCTTTTTTAATATTTTCAAAATTTTTGACCACAAGTATACCGGAATATTCTTTTATCGTTGGTAGAAAAATAAATAAATAAATGTCTTTCAAAAAACTATATAGAAAAGAAAGCCATCTCACAACAGTTGCTGGGTGCAGAGCGCAGGGCCCAGCCAGACTGTCCATGGTGCAAAGGAGGAAAGTCTGTGTACAGAGACAAAACATAAAAGCTCCCAGAAAGTTGAAGCCGCTGGAAACCCGAGTACAGCTGTAGCAGTGTTTTCAGCAGAAACCGTCAGCCTGGCTTT... |
Task1_train_13001 | Gene FBP1 (fructose-bisphosphatase 1), found on Chromosome 9, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Fructose-biphosphatase deficiency | ATATTTTCAAAATTTTTGACCACAAGTATACCGGAATATTCTTTTATCGTTGGTAGAAAAATAAATAAATAAATGTCTTTCAAAAAACTATATAGAAAAGAAAGCCATCTCACAACAGTTGCTGGGTGCAGAGCGCAGGGCCCAGCCAGACTGTCCATGGTGCAAAGGAGGAAAGTCTGTGTACAGAGACAAAACATAAAAGCTCCCAGAAAGTTGAAGCCGCTGGAAACCCGAGTACAGCTGTAGCAGTGTTTTCAGCAGAAACCGTCAGCCTGGCTTTGCAGCAAGCGCAAACAAAGAGGAAGCACTTAGCACCTCCC... | ATATTTTCAAAATTTTTGACCACAAGTATACCGGAATATTCTTTTATCGTTGGTAGAAAAATAAATAAATAAATGTCTTTCAAAAAACTATATAGAAAAGAAAGCCATCTCACAACAGTTGCTGGGTGCAGAGCGCAGGGCCCAGCCAGACTGTCCATGGTGCAAAGGAGGAAAGTCTGTGTACAGAGACAAAACATAAAAGCTCCCAGAAAGTTGAAGCCGCTGGAAACCCGAGTACAGCTGTAGCAGTGTTTTCAGCAGAAACCGTCAGCCTGGCTTTGCAGCAAGCGCAAACAAAGAGGAAGCACTTAGCACCTCCC... |
Task1_train_13002 | A genetic alteration is present in FBP1 (fructose-bisphosphatase 1) on Chromosome 9. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Fructose-biphosphatase deficiency | ACCACAAGTATACCGGAATATTCTTTTATCGTTGGTAGAAAAATAAATAAATAAATGTCTTTCAAAAAACTATATAGAAAAGAAAGCCATCTCACAACAGTTGCTGGGTGCAGAGCGCAGGGCCCAGCCAGACTGTCCATGGTGCAAAGGAGGAAAGTCTGTGTACAGAGACAAAACATAAAAGCTCCCAGAAAGTTGAAGCCGCTGGAAACCCGAGTACAGCTGTAGCAGTGTTTTCAGCAGAAACCGTCAGCCTGGCTTTGCAGCAAGCGCAAACAAAGAGGAAGCACTTAGCACCTCCCTGGCGGGAGGCTCAGCCC... | ACCACAAGTATACCGGAATATTCTTTTATCGTTGGTAGAAAAATAAATAAATAAATGTCTTTCAAAAAACTATATAGAAAAGAAAGCCATCTCACAACAGTTGCTGGGTGCAGAGCGCAGGGCCCAGCCAGACTGTCCATGGTGCAAAGGAGGAAAGTCTGTGTACAGAGACAAAACATAAAAGCTCCCAGAAAGTTGAAGCCGCTGGAAACCCGAGTACAGCTGTAGCAGTGTTTTCAGCAGAAACCGTCAGCCTGGCTTTGCAGCAAGCGCAAACAAAGAGGAAGCACTTAGCACCTCCCTGGCGGGAGGCTCAGCCC... |
Task1_train_13003 | An alteration has been detected in AOPEP, FANCC (aminopeptidase O (putative)| FA complementation group C) on Chromosome 9. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Fanconi anemia complementation group C | GGGGCCGGGCCCAAAGAGGTGGCACCTGGCATGTGGCAGCCAGTCGTCTTTAGCCCTGGGCCACCCTCATGACTCGGATTCGTCTTAGCTGAGACACCAGCACCTGGGAGGCACAGCCTGGGCCCACTCCACAGGACTGTCCTACCAGGATGGAGACAATCTCCTGGCCCTGGTTCTTGGCAGGTGGGTCATGTTACGGGGACTTTCTGTACATGGACATTCACGTTTCAGTCAGGCCCGGCCTGGACGGGAGCAGGAGGGGCCTCTGGGGACTGGGAATATTCCTCTCGAGTTGGCTGCTGGCTGCACAGGTGTTGTTG... | GGGGCCGGGCCCAAAGAGGTGGCACCTGGCATGTGGCAGCCAGTCGTCTTTAGCCCTGGGCCACCCTCATGACTCGGATTCGTCTTAGCTGAGACACCAGCACCTGGGAGGCACAGCCTGGGCCCACTCCACAGGACTGTCCTACCAGGATGGAGACAATCTCCTGGCCCTGGTTCTTGGCAGGTGGGTCATGTTACGGGGACTTTCTGTACATGGACATTCACGTTTCAGTCAGGCCCGGCCTGGACGGGAGCAGGAGGGGCCTCTGGGGACTGGGAATATTCCTCTCGAGTTGGCTGCTGGCTGCACAGGTGTTGTTG... |
Task1_train_13004 | The variant affects gene PTCH1 (patched 1), which is on Chromosome 9. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Gorlin syndrome | AAACACAGTAGCCGCTCCAGACATGTGGTTGCTTAAGTTTTAATGAACTAAAATCCAAAATCCAGCTCCTCGGTAGCCCCGGCCACATTTCAAGTGCTCCACAGCCACGTGTGGCCGGTGGCTCCCATCCTGGAAAGCAGAGAGGGCATTTTCGTCACTGCGGAGGGCTGTGGCGGGCAGCCTGTTCCATCTGATTGTTAAGAATCTGGTCTCTGCGTCTCTATACAAAGCACAGAGCAACACAGTGGCCACATCAATCAAAAGGACCGTGACCAACTTCAAAGTCGTTCAGCTTGTACCTATTTTTAGGCTCCTGCTGA... | AAACACAGTAGCCGCTCCAGACATGTGGTTGCTTAAGTTTTAATGAACTAAAATCCAAAATCCAGCTCCTCGGTAGCCCCGGCCACATTTCAAGTGCTCCACAGCCACGTGTGGCCGGTGGCTCCCATCCTGGAAAGCAGAGAGGGCATTTTCGTCACTGCGGAGGGCTGTGGCGGGCAGCCTGTTCCATCTGATTGTTAAGAATCTGGTCTCTGCGTCTCTATACAAAGCACAGAGCAACACAGTGGCCACATCAATCAAAAGGACCGTGACCAACTTCAAAGTCGTTCAGCTTGTACCTATTTTTAGGCTCCTGCTGA... |
Task1_train_13005 | This sequence change occurs on Chromosome 9, altering PTCH1 (patched 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Basal cell carcinoma, somatic | CATCCCCCACAAGGCTGAGCGAGACCCTCCTGTAACTCATGAGACCCCAGCACACCTTGCATTTCCCCTGGTTTTGCCTGTGAACTTGTCTCTCCCCTAAAAGACCTTAGGCTACACAGAGGGATATGGGGGTCCCCATTATTTGCTGTTGTGCAAATGGCACTTATGGGGTGCTTGTTATATTTGTGTTAAACGAGAAAGTAAATATGCAAAAGAAACTCTACTTGACATTGAGCTTTTATATCATAATGATAACGTTAGTGCCTGAAAAAGTGTATACTAAGAACAAAGGAAAAGCTAAAATCAAACTAAGAACTAAA... | CATCCCCCACAAGGCTGAGCGAGACCCTCCTGTAACTCATGAGACCCCAGCACACCTTGCATTTCCCCTGGTTTTGCCTGTGAACTTGTCTCTCCCCTAAAAGACCTTAGGCTACACAGAGGGATATGGGGGTCCCCATTATTTGCTGTTGTGCAAATGGCACTTATGGGGTGCTTGTTATATTTGTGTTAAACGAGAAAGTAAATATGCAAAAGAAACTCTACTTGACATTGAGCTTTTATATCATAATGATAACGTTAGTGCCTGAAAAAGTGTATACTAAGAACAAAGGAAAAGCTAAAATCAAACTAAGAACTAAA... |
Task1_train_13006 | Consider this mutation in PTCH1 (patched 1) on Chromosome 9. Is this a benign change or a disease-causing variant? | Pathogenic; Gorlin syndrome | TGCAGAGTAAATTCTGGAAGATCAGACTGTTGGCCTGAACGTGTGACCCCTGCAGGGAGTGTTGAACCTGGCACAAGTTCTCTCTCTGAAGTTCAGGCTGCTCTGGATTATGCCGAGAGGAGAGGGCTGGGTGTCTTTGGCAGGATGCGTTTCTATCCCTTACCTACCTGCAGAAGGACTGAGACGGTCGTTCTCCTTAACAGATGAAAAAATACAAATATACAAAGGTGTGCTAAGAGTTTTCATACTTTTCTCTCAAACAGGTTCTACTCTTTCAGAGTTGGTAAAGACATTAGGGTCAATATAGCTGCCTTCTGCTC... | TGCAGAGTAAATTCTGGAAGATCAGACTGTTGGCCTGAACGTGTGACCCCTGCAGGGAGTGTTGAACCTGGCACAAGTTCTCTCTCTGAAGTTCAGGCTGCTCTGGATTATGCCGAGAGGAGAGGGCTGGGTGTCTTTGGCAGGATGCGTTTCTATCCCTTACCTACCTGCAGAAGGACTGAGACGGTCGTTCTCCTTAACAGATGAAAAAATACAAATATACAAAGGTGTGCTAAGAGTTTTCATACTTTTCTCTCAAACAGGTTCTACTCTTTCAGAGTTGGTAAAGACATTAGGGTCAATATAGCTGCCTTCTGCTC... |
Task1_train_13007 | A sequence alteration has been identified in PTCH1 (patched 1) on Chromosome 9. Is it disease-inducing or harmless? | Pathogenic; Holoprosencephaly 7 | GGCTTTGAGTGTTTTGATTTAATAAATGTTCAGAGCTGTGATGGAAGGTGTGCTTTAAAAAGTCCCCTATCTTTCCACAAAAATCTTCAAGCTACAGGAGAGAGGACCTACGAATAAGGCCATTAGAGGTTCTACCTTAACCATGGACCTCACCACCTCGAGTAGAATAAACATATTACGGATGATGCAAGCTATACCCTCCTCCAGAGGCCCAGACATAAACAAAACTTCCCGGCTGCAGAAAGAGCTATGCTGAAAGGAATTTGACTTCCACAAAGCCCCTTATAATACACTCACAATGATCCCGGCCGTCCAGGGGT... | GGCTTTGAGTGTTTTGATTTAATAAATGTTCAGAGCTGTGATGGAAGGTGTGCTTTAAAAAGTCCCCTATCTTTCCACAAAAATCTTCAAGCTACAGGAGAGAGGACCTACGAATAAGGCCATTAGAGGTTCTACCTTAACCATGGACCTCACCACCTCGAGTAGAATAAACATATTACGGATGATGCAAGCTATACCCTCCTCCAGAGGCCCAGACATAAACAAAACTTCCCGGCTGCAGAAAGAGCTATGCTGAAAGGAATTTGACTTCCACAAAGCCCCTTATAATACACTCACAATGATCCCGGCCGTCCAGGGGT... |
Task1_train_13008 | An alteration has been detected in LOC100507346, PTCH1 (uncharacterized LOC100507346| patched 1) on Chromosome 9. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Gorlin syndrome | CTCAACTCCAGCTGATTTACATCTATAAAGGAAGAAACGTATAGAGATGATCTACAATGCTCTATAAAAAGGTTAACCCTTTGCACTGCCTCGAGACAATCCCCCTTTACCCCCTTCCCAATCCCTGCCTAACATGCCACATTGAGCCTCCAGAGCAATGGCCAAAGACACTGAAATACACTCTACAATAACCCTTCTCTGCTCACAGACTGGCAGGGCACAGCAGATCTCTTTGTCATTTGTGGCAAGTTATTTATATGTCTTTGGTCAATGGGGGGAAAATGAAAGCAGGGACTCTCTCCACTGTCTCTCTTTTAACT... | CTCAACTCCAGCTGATTTACATCTATAAAGGAAGAAACGTATAGAGATGATCTACAATGCTCTATAAAAAGGTTAACCCTTTGCACTGCCTCGAGACAATCCCCCTTTACCCCCTTCCCAATCCCTGCCTAACATGCCACATTGAGCCTCCAGAGCAATGGCCAAAGACACTGAAATACACTCTACAATAACCCTTCTCTGCTCACAGACTGGCAGGGCACAGCAGATCTCTTTGTCATTTGTGGCAAGTTATTTATATGTCTTTGGTCAATGGGGGGAAAATGAAAGCAGGGACTCTCTCCACTGTCTCTCTTTTAACT... |
Task1_train_13009 | The gene LOC100507346, PTCH1 (uncharacterized LOC100507346| patched 1) is located on Chromosome 9, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Gorlin syndrome | CTCAACTCCAGCTGATTTACATCTATAAAGGAAGAAACGTATAGAGATGATCTACAATGCTCTATAAAAAGGTTAACCCTTTGCACTGCCTCGAGACAATCCCCCTTTACCCCCTTCCCAATCCCTGCCTAACATGCCACATTGAGCCTCCAGAGCAATGGCCAAAGACACTGAAATACACTCTACAATAACCCTTCTCTGCTCACAGACTGGCAGGGCACAGCAGATCTCTTTGTCATTTGTGGCAAGTTATTTATATGTCTTTGGTCAATGGGGGGAAAATGAAAGCAGGGACTCTCTCCACTGTCTCTCTTTTAACT... | CTCAACTCCAGCTGATTTACATCTATAAAGGAAGAAACGTATAGAGATGATCTACAATGCTCTATAAAAAGGTTAACCCTTTGCACTGCCTCGAGACAATCCCCCTTTACCCCCTTCCCAATCCCTGCCTAACATGCCACATTGAGCCTCCAGAGCAATGGCCAAAGACACTGAAATACACTCTACAATAACCCTTCTCTGCTCACAGACTGGCAGGGCACAGCAGATCTCTTTGTCATTTGTGGCAAGTTATTTATATGTCTTTGGTCAATGGGGGGAAAATGAAAGCAGGGACTCTCTCCACTGTCTCTCTTTTAACT... |
Task1_train_13010 | The following genetic variant occurs in PTCH1 (patched 1) on Chromosome 9. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Gorlin syndrome | TTACCTTGGGAGAATTTAGCGCACTGGATTTTCTACAAGGCTACTCCTCGTAAGGAAACCTCATGTAGCTTTTCAGACCACCACACCACAGGGTATCATTAAAGGAGAGTCGGCCTCGATGAGCCATCAGTATGTACTAAGAGAGGAGAGGAGAGAATGAGAGAGAAAAGAAGAAAAGAAGGAGTATGAGCAGATACAGAAAGACAGTGAGCAAAAAGGCAAGCAGAAAAGAAGGGGAGAGGAGAGAGAATGGGCAGACAGGGTCCCATGACTAAAAGACTCTAGAACAGTTTCTCAATACCAGCACCGGCTGCACGTGA... | TTACCTTGGGAGAATTTAGCGCACTGGATTTTCTACAAGGCTACTCCTCGTAAGGAAACCTCATGTAGCTTTTCAGACCACCACACCACAGGGTATCATTAAAGGAGAGTCGGCCTCGATGAGCCATCAGTATGTACTAAGAGAGGAGAGGAGAGAATGAGAGAGAAAAGAAGAAAAGAAGGAGTATGAGCAGATACAGAAAGACAGTGAGCAAAAAGGCAAGCAGAAAAGAAGGGGAGAGGAGAGAGAATGGGCAGACAGGGTCCCATGACTAAAAGACTCTAGAACAGTTTCTCAATACCAGCACCGGCTGCACGTGA... |
Task1_train_13011 | This sequence change occurs on Chromosome 9, altering PTCH1 (patched 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Gorlin syndrome | TATAAACAGAAACCAGATGCAAGACTGGTCAATTTCTCTTCCTGCTCGCATCTGCAGGAACTCTTGGTGAGTAGAGTAAAGCTGTGTGAGTGTGCCGGGCATCCTAACAACAAGTGAAAAAGTGACACAGAAGTCATTTCCTTTAACAACCTGGCCAGCTTGAGAATTAGACATCATATCATCACAGAGAAAGAAAGGGGAAACAATTGAGGTTTTGAAATTTGAAATTAATTCACAAAACCCCCACAACATCTTGAGATATCAAAACTCCAGGCCACTTTGCGCTCAGGAAGACCATGGCACAAACTGGTGAAGTCTCT... | TATAAACAGAAACCAGATGCAAGACTGGTCAATTTCTCTTCCTGCTCGCATCTGCAGGAACTCTTGGTGAGTAGAGTAAAGCTGTGTGAGTGTGCCGGGCATCCTAACAACAAGTGAAAAAGTGACACAGAAGTCATTTCCTTTAACAACCTGGCCAGCTTGAGAATTAGACATCATATCATCACAGAGAAAGAAAGGGGAAACAATTGAGGTTTTGAAATTTGAAATTAATTCACAAAACCCCCACAACATCTTGAGATATCAAAACTCCAGGCCACTTTGCGCTCAGGAAGACCATGGCACAAACTGGTGAAGTCTCT... |
Task1_train_13012 | Gene PTCH1 (patched 1) on Chromosome 9 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Gorlin syndrome | TATAAACAGAAACCAGATGCAAGACTGGTCAATTTCTCTTCCTGCTCGCATCTGCAGGAACTCTTGGTGAGTAGAGTAAAGCTGTGTGAGTGTGCCGGGCATCCTAACAACAAGTGAAAAAGTGACACAGAAGTCATTTCCTTTAACAACCTGGCCAGCTTGAGAATTAGACATCATATCATCACAGAGAAAGAAAGGGGAAACAATTGAGGTTTTGAAATTTGAAATTAATTCACAAAACCCCCACAACATCTTGAGATATCAAAACTCCAGGCCACTTTGCGCTCAGGAAGACCATGGCACAAACTGGTGAAGTCTCT... | TATAAACAGAAACCAGATGCAAGACTGGTCAATTTCTCTTCCTGCTCGCATCTGCAGGAACTCTTGGTGAGTAGAGTAAAGCTGTGTGAGTGTGCCGGGCATCCTAACAACAAGTGAAAAAGTGACACAGAAGTCATTTCCTTTAACAACCTGGCCAGCTTGAGAATTAGACATCATATCATCACAGAGAAAGAAAGGGGAAACAATTGAGGTTTTGAAATTTGAAATTAATTCACAAAACCCCCACAACATCTTGAGATATCAAAACTCCAGGCCACTTTGCGCTCAGGAAGACCATGGCACAAACTGGTGAAGTCTCT... |
Task1_train_13013 | The gene PTCH1 (patched 1), on Chromosome 9, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hereditary cancer-predisposing syndrome | TATAAACAGAAACCAGATGCAAGACTGGTCAATTTCTCTTCCTGCTCGCATCTGCAGGAACTCTTGGTGAGTAGAGTAAAGCTGTGTGAGTGTGCCGGGCATCCTAACAACAAGTGAAAAAGTGACACAGAAGTCATTTCCTTTAACAACCTGGCCAGCTTGAGAATTAGACATCATATCATCACAGAGAAAGAAAGGGGAAACAATTGAGGTTTTGAAATTTGAAATTAATTCACAAAACCCCCACAACATCTTGAGATATCAAAACTCCAGGCCACTTTGCGCTCAGGAAGACCATGGCACAAACTGGTGAAGTCTCT... | TATAAACAGAAACCAGATGCAAGACTGGTCAATTTCTCTTCCTGCTCGCATCTGCAGGAACTCTTGGTGAGTAGAGTAAAGCTGTGTGAGTGTGCCGGGCATCCTAACAACAAGTGAAAAAGTGACACAGAAGTCATTTCCTTTAACAACCTGGCCAGCTTGAGAATTAGACATCATATCATCACAGAGAAAGAAAGGGGAAACAATTGAGGTTTTGAAATTTGAAATTAATTCACAAAACCCCCACAACATCTTGAGATATCAAAACTCCAGGCCACTTTGCGCTCAGGAAGACCATGGCACAAACTGGTGAAGTCTCT... |
Task1_train_13014 | This gene mutation involves PTCH1 (patched 1) on Chromosome 9. Is it associated with any clinical condition, or is it benign? | Pathogenic; Gorlin syndrome | ATAAACAGAAACCAGATGCAAGACTGGTCAATTTCTCTTCCTGCTCGCATCTGCAGGAACTCTTGGTGAGTAGAGTAAAGCTGTGTGAGTGTGCCGGGCATCCTAACAACAAGTGAAAAAGTGACACAGAAGTCATTTCCTTTAACAACCTGGCCAGCTTGAGAATTAGACATCATATCATCACAGAGAAAGAAAGGGGAAACAATTGAGGTTTTGAAATTTGAAATTAATTCACAAAACCCCCACAACATCTTGAGATATCAAAACTCCAGGCCACTTTGCGCTCAGGAAGACCATGGCACAAACTGGTGAAGTCTCTG... | ATAAACAGAAACCAGATGCAAGACTGGTCAATTTCTCTTCCTGCTCGCATCTGCAGGAACTCTTGGTGAGTAGAGTAAAGCTGTGTGAGTGTGCCGGGCATCCTAACAACAAGTGAAAAAGTGACACAGAAGTCATTTCCTTTAACAACCTGGCCAGCTTGAGAATTAGACATCATATCATCACAGAGAAAGAAAGGGGAAACAATTGAGGTTTTGAAATTTGAAATTAATTCACAAAACCCCCACAACATCTTGAGATATCAAAACTCCAGGCCACTTTGCGCTCAGGAAGACCATGGCACAAACTGGTGAAGTCTCTG... |
Task1_train_13015 | A mutation found in PTCH1 (patched 1) on Chromosome 9 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Gorlin syndrome | CATGCGACCTCAGCTTAATACTGTCTTGGGTTGGGGGTGCTTTGGCAAAAGCGAAAGAAAAGGTAGCCTGTTTGGGATCAAGTGGGCAGCGGGAGAGGGGGTAAGTGCAGGTACTGGGAGTGGTGTTTGGAAGCAGGGGATGGCCCAGAAGCTGGCTGCAGCGCTGGTGACCCCAGAGGGCAACATGGAGTAGCCCCGAAAGCCATGCATAAAGGACATGGCCACTCTATAAGGCAACAGACGTCTGGGCTTCATAGGGCTAGAAAGGAAGGAAAAACTCCAGAAGGGCTTAGTTTTTTAGAGGGAGTGTCAGGGTTATA... | CATGCGACCTCAGCTTAATACTGTCTTGGGTTGGGGGTGCTTTGGCAAAAGCGAAAGAAAAGGTAGCCTGTTTGGGATCAAGTGGGCAGCGGGAGAGGGGGTAAGTGCAGGTACTGGGAGTGGTGTTTGGAAGCAGGGGATGGCCCAGAAGCTGGCTGCAGCGCTGGTGACCCCAGAGGGCAACATGGAGTAGCCCCGAAAGCCATGCATAAAGGACATGGCCACTCTATAAGGCAACAGACGTCTGGGCTTCATAGGGCTAGAAAGGAAGGAAAAACTCCAGAAGGGCTTAGTTTTTTAGAGGGAGTGTCAGGGTTATA... |
Task1_train_13016 | This alteration occurs within gene PTCH1 (patched 1) located on Chromosome 9. Is it associated with a disease or is it a benign variant? | Pathogenic; Gorlin syndrome | CTGAAACCTGGCGCAGCTGTCATGGGGACCGCCCACGTTTCCTTTGTCCATGTCTATCTATACTGATGTCTTTCCTCTCTTTGAGAGCTGTGCCTAACTTACCCATATCTCCGCCATCCTCCACCTAGCCACACATCCATGGACATATTTATATTTTAATTCTATACAGCATCAACATAGACTATCCGGCATGAGTAGGTTCTCACTTTATATTACTTGATCAACTCTCATTTACACTTGAGAAGGACATCATTGTGCATTAGAAAAATGAATGGGCTTGAAGCCAGAAAAAGGCTTTGAAACCTGGCTCTCTCATTTCA... | CTGAAACCTGGCGCAGCTGTCATGGGGACCGCCCACGTTTCCTTTGTCCATGTCTATCTATACTGATGTCTTTCCTCTCTTTGAGAGCTGTGCCTAACTTACCCATATCTCCGCCATCCTCCACCTAGCCACACATCCATGGACATATTTATATTTTAATTCTATACAGCATCAACATAGACTATCCGGCATGAGTAGGTTCTCACTTTATATTACTTGATCAACTCTCATTTACACTTGAGAAGGACATCATTGTGCATTAGAAAAATGAATGGGCTTGAAGCCAGAAAAAGGCTTTGAAACCTGGCTCTCTCATTTCA... |
Task1_train_13017 | Here’s a variant in HSD17B3, SLC35D2-HSD17B3 (hydroxysteroid 17-beta dehydrogenase 3| SLC35D2-HSD17B3 readthrough) located on Chromosome 9. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Inborn genetic diseases | AGCTATTATCTACTACTAATGATGATGAGGATAAAGATCTTAAAATATGGAGTTTTTCTGCCCTCATTTCGTAAGAAGTCAGTTCAACGTCTTGGGGCCTTTACTGTTAGGAAATTCTCTCTTACTTTAAGAACCCTCAAGAAGCTTGTTGGACAACCGTGCAAATCAACCTAGGATTATTACACTAGAAAACCCGTATCACACATCTAAAACTTACCTCTAAATATCTGCCCCAGGCCATTTAAGCTGAAGTGTGTCTCTGTTCTTACCTAAGGTGCTGGTTGTAGAAGTTGTTCCTGAAAGGCCAATTCACCAGGGTT... | AGCTATTATCTACTACTAATGATGATGAGGATAAAGATCTTAAAATATGGAGTTTTTCTGCCCTCATTTCGTAAGAAGTCAGTTCAACGTCTTGGGGCCTTTACTGTTAGGAAATTCTCTCTTACTTTAAGAACCCTCAAGAAGCTTGTTGGACAACCGTGCAAATCAACCTAGGATTATTACACTAGAAAACCCGTATCACACATCTAAAACTTACCTCTAAATATCTGCCCCAGGCCATTTAAGCTGAAGTGTGTCTCTGTTCTTACCTAAGGTGCTGGTTGTAGAAGTTGTTCCTGAAAGGCCAATTCACCAGGGTT... |
Task1_train_13018 | This mutation occurs in HSD17B3, SLC35D2-HSD17B3 (hydroxysteroid 17-beta dehydrogenase 3| SLC35D2-HSD17B3 readthrough) on Chromosome 9. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Testosterone 17-beta-dehydrogenase deficiency | AGCTATTATCTACTACTAATGATGATGAGGATAAAGATCTTAAAATATGGAGTTTTTCTGCCCTCATTTCGTAAGAAGTCAGTTCAACGTCTTGGGGCCTTTACTGTTAGGAAATTCTCTCTTACTTTAAGAACCCTCAAGAAGCTTGTTGGACAACCGTGCAAATCAACCTAGGATTATTACACTAGAAAACCCGTATCACACATCTAAAACTTACCTCTAAATATCTGCCCCAGGCCATTTAAGCTGAAGTGTGTCTCTGTTCTTACCTAAGGTGCTGGTTGTAGAAGTTGTTCCTGAAAGGCCAATTCACCAGGGTT... | AGCTATTATCTACTACTAATGATGATGAGGATAAAGATCTTAAAATATGGAGTTTTTCTGCCCTCATTTCGTAAGAAGTCAGTTCAACGTCTTGGGGCCTTTACTGTTAGGAAATTCTCTCTTACTTTAAGAACCCTCAAGAAGCTTGTTGGACAACCGTGCAAATCAACCTAGGATTATTACACTAGAAAACCCGTATCACACATCTAAAACTTACCTCTAAATATCTGCCCCAGGCCATTTAAGCTGAAGTGTGTCTCTGTTCTTACCTAAGGTGCTGGTTGTAGAAGTTGTTCCTGAAAGGCCAATTCACCAGGGTT... |
Task1_train_13019 | This sequence change occurs on Chromosome 9, altering HSD17B3, SLC35D2-HSD17B3 (hydroxysteroid 17-beta dehydrogenase 3| SLC35D2-HSD17B3 readthrough). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Testosterone 17-beta-dehydrogenase deficiency | GTGGTCAGAAGTGTGTCCTCTGTCGGGTGTGAGCTCTGGCCTAGGCTGGGGGCTGAAGGATAAGGCCTGGCGCATGAAGGATGGAGAAGTGTGATTCATGAGTAAGGGTGGCACTGAGGGCAAAGAAGGGGCCATGGCCCCCACTCCTCTGCAGTCCAACCACAGGAAATTATCTCAGCATGGTGAGACAGGTGCTGAGATTTGGTTTTTCCAGCTTCCTTCAGGTCCACGTTGGTGCTGATGTAGAGATAGCAGCCAGAGGTCTATGTGGATCAAAGCTGCAGATGGACCTTGGGCCTGTAGCTGGAGGGGGATGTGGC... | GTGGTCAGAAGTGTGTCCTCTGTCGGGTGTGAGCTCTGGCCTAGGCTGGGGGCTGAAGGATAAGGCCTGGCGCATGAAGGATGGAGAAGTGTGATTCATGAGTAAGGGTGGCACTGAGGGCAAAGAAGGGGCCATGGCCCCCACTCCTCTGCAGTCCAACCACAGGAAATTATCTCAGCATGGTGAGACAGGTGCTGAGATTTGGTTTTTCCAGCTTCCTTCAGGTCCACGTTGGTGCTGATGTAGAGATAGCAGCCAGAGGTCTATGTGGATCAAAGCTGCAGATGGACCTTGGGCCTGTAGCTGGAGGGGGATGTGGC... |
Task1_train_13020 | A variant was discovered on Chromosome 9, affecting HSD17B3, SLC35D2-HSD17B3 (hydroxysteroid 17-beta dehydrogenase 3| SLC35D2-HSD17B3 readthrough). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Testosterone 17-beta-dehydrogenase deficiency | AGTAAGGGTGGCACTGAGGGCAAAGAAGGGGCCATGGCCCCCACTCCTCTGCAGTCCAACCACAGGAAATTATCTCAGCATGGTGAGACAGGTGCTGAGATTTGGTTTTTCCAGCTTCCTTCAGGTCCACGTTGGTGCTGATGTAGAGATAGCAGCCAGAGGTCTATGTGGATCAAAGCTGCAGATGGACCTTGGGCCTGTAGCTGGAGGGGGATGTGGCAGAGTACAGCAGTCTGCTGCCCTCAGTAGCTGGGGAGACCTTATCAGGGTATCCACTGGCCAAGTCAAAAGGACAGAAAGGTTCATCTCCCTCATCCTTG... | AGTAAGGGTGGCACTGAGGGCAAAGAAGGGGCCATGGCCCCCACTCCTCTGCAGTCCAACCACAGGAAATTATCTCAGCATGGTGAGACAGGTGCTGAGATTTGGTTTTTCCAGCTTCCTTCAGGTCCACGTTGGTGCTGATGTAGAGATAGCAGCCAGAGGTCTATGTGGATCAAAGCTGCAGATGGACCTTGGGCCTGTAGCTGGAGGGGGATGTGGCAGAGTACAGCAGTCTGCTGCCCTCAGTAGCTGGGGAGACCTTATCAGGGTATCCACTGGCCAAGTCAAAAGGACAGAAAGGTTCATCTCCCTCATCCTTG... |
Task1_train_13021 | This sequence change occurs on Chromosome 9, altering HSD17B3, SLC35D2-HSD17B3 (hydroxysteroid 17-beta dehydrogenase 3| SLC35D2-HSD17B3 readthrough). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Testosterone 17-beta-dehydrogenase deficiency | TGGCACTGAGGGCAAAGAAGGGGCCATGGCCCCCACTCCTCTGCAGTCCAACCACAGGAAATTATCTCAGCATGGTGAGACAGGTGCTGAGATTTGGTTTTTCCAGCTTCCTTCAGGTCCACGTTGGTGCTGATGTAGAGATAGCAGCCAGAGGTCTATGTGGATCAAAGCTGCAGATGGACCTTGGGCCTGTAGCTGGAGGGGGATGTGGCAGAGTACAGCAGTCTGCTGCCCTCAGTAGCTGGGGAGACCTTATCAGGGTATCCACTGGCCAAGTCAAAAGGACAGAAAGGTTCATCTCCCTCATCCTTGACAGACAT... | TGGCACTGAGGGCAAAGAAGGGGCCATGGCCCCCACTCCTCTGCAGTCCAACCACAGGAAATTATCTCAGCATGGTGAGACAGGTGCTGAGATTTGGTTTTTCCAGCTTCCTTCAGGTCCACGTTGGTGCTGATGTAGAGATAGCAGCCAGAGGTCTATGTGGATCAAAGCTGCAGATGGACCTTGGGCCTGTAGCTGGAGGGGGATGTGGCAGAGTACAGCAGTCTGCTGCCCTCAGTAGCTGGGGAGACCTTATCAGGGTATCCACTGGCCAAGTCAAAAGGACAGAAAGGTTCATCTCCCTCATCCTTGACAGACAT... |
Task1_train_13022 | Here is a mutation in HSD17B3, SLC35D2-HSD17B3 (hydroxysteroid 17-beta dehydrogenase 3| SLC35D2-HSD17B3 readthrough) on Chromosome 9. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Disorder of sexual differentiation | GAAGGGGCCATGGCCCCCACTCCTCTGCAGTCCAACCACAGGAAATTATCTCAGCATGGTGAGACAGGTGCTGAGATTTGGTTTTTCCAGCTTCCTTCAGGTCCACGTTGGTGCTGATGTAGAGATAGCAGCCAGAGGTCTATGTGGATCAAAGCTGCAGATGGACCTTGGGCCTGTAGCTGGAGGGGGATGTGGCAGAGTACAGCAGTCTGCTGCCCTCAGTAGCTGGGGAGACCTTATCAGGGTATCCACTGGCCAAGTCAAAAGGACAGAAAGGTTCATCTCCCTCATCCTTGACAGACATAAACTTCAGCAAGGTG... | GAAGGGGCCATGGCCCCCACTCCTCTGCAGTCCAACCACAGGAAATTATCTCAGCATGGTGAGACAGGTGCTGAGATTTGGTTTTTCCAGCTTCCTTCAGGTCCACGTTGGTGCTGATGTAGAGATAGCAGCCAGAGGTCTATGTGGATCAAAGCTGCAGATGGACCTTGGGCCTGTAGCTGGAGGGGGATGTGGCAGAGTACAGCAGTCTGCTGCCCTCAGTAGCTGGGGAGACCTTATCAGGGTATCCACTGGCCAAGTCAAAAGGACAGAAAGGTTCATCTCCCTCATCCTTGACAGACATAAACTTCAGCAAGGTG... |
Task1_train_13023 | The gene HSD17B3, SLC35D2-HSD17B3 (hydroxysteroid 17-beta dehydrogenase 3| SLC35D2-HSD17B3 readthrough) is located on Chromosome 9, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Inborn genetic diseases | ATATTGTTTAAACATATGTACTTATTTCTTCGTTAGATCTTTACTATAACCCAGAGATATAAGCAGGCATTATAAGCCCCTTTTTATGGATGGGAAAACTGAGGCTCACAGAGTTTAAACAAGCTGACCAGGATCACTCAGATGATAAGTGGTAGAGCTGTGATGAAATTCAAACCCAACTCCACAGTACATACTTCTTCATGCATTCAGCGAGTATTTATTCATTCAGCGAGTATTTATTGAGTGTGTGTTCGGAGAGGCCAATTGGTTTTTGAAAGATCACAGTCTTTTCACTTTCTCCTCCTTGCTAGAAGAGCACC... | ATATTGTTTAAACATATGTACTTATTTCTTCGTTAGATCTTTACTATAACCCAGAGATATAAGCAGGCATTATAAGCCCCTTTTTATGGATGGGAAAACTGAGGCTCACAGAGTTTAAACAAGCTGACCAGGATCACTCAGATGATAAGTGGTAGAGCTGTGATGAAATTCAAACCCAACTCCACAGTACATACTTCTTCATGCATTCAGCGAGTATTTATTCATTCAGCGAGTATTTATTGAGTGTGTGTTCGGAGAGGCCAATTGGTTTTTGAAAGATCACAGTCTTTTCACTTTCTCCTCCTTGCTAGAAGAGCACC... |
Task1_train_13024 | With a mutation on Chromosome 9 in gene SLC35D2-HSD17B3, HSD17B3 (SLC35D2-HSD17B3 readthrough| hydroxysteroid 17-beta dehydrogenase 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Pseudohermaphroditism | AATTAGAGGAAGATACTAATTTTTTTTAGAATTGCCTTGGAATCCTGAATACGTTTCAGCATCATCGAGCTTAGTATGTTCCAACGTGTGACAAAACTGAAAGCAGAAATAGAATTCAGATACAAGGGAGAGTTGAATCCATTACTGTATTTTCTAGATGAAAAACAGAACAAGACAATTACAAGACCACGACATGGCCTCTCAACTAAGTGTGGTTCGATTTCAAAGAATCCTGCTTCTACAGTGGATGGGCACAATTCTCCTGAGTTGCCAAATTTCAAGTTACTACATGTTAATGCATTTCGCACATATATTGATCA... | AATTAGAGGAAGATACTAATTTTTTTTAGAATTGCCTTGGAATCCTGAATACGTTTCAGCATCATCGAGCTTAGTATGTTCCAACGTGTGACAAAACTGAAAGCAGAAATAGAATTCAGATACAAGGGAGAGTTGAATCCATTACTGTATTTTCTAGATGAAAAACAGAACAAGACAATTACAAGACCACGACATGGCCTCTCAACTAAGTGTGGTTCGATTTCAAAGAATCCTGCTTCTACAGTGGATGGGCACAATTCTCCTGAGTTGCCAAATTTCAAGTTACTACATGTTAATGCATTTCGCACATATATTGATCA... |
Task1_train_13025 | This variant impacts the gene HSD17B3, SLC35D2-HSD17B3 (hydroxysteroid 17-beta dehydrogenase 3| SLC35D2-HSD17B3 readthrough) on Chromosome 9. Is the change likely to result in a pathogenic outcome? | Pathogenic; Testosterone 17-beta-dehydrogenase deficiency | ATCTTTTGTAAAATCTGCTTGTATAATCTTCACACTCCTCCCTGTAGTCCGCTCTACACGAGAGACAACAGTTTTTTTAATGAACAGGGATCCAAATGCCCCCTCGCCCATGAAGTTTCCCCCAGTGCTCCTGTATTACCTGAGCAGACATTGAAGAGGACAGCCCATTGCCCCAAATAAAAATGGGACATGGTTCTGGGTAAATGTTGGGAGGTGCTAAGATTGGTGAATGGTGGTTCCTACGTGTCTCTAAGAGTTACTGCAGGGACACGTATATGCATTAAGATAGATTTACTGCAGCGGTTCTCAAAGTGGAGTCC... | ATCTTTTGTAAAATCTGCTTGTATAATCTTCACACTCCTCCCTGTAGTCCGCTCTACACGAGAGACAACAGTTTTTTTAATGAACAGGGATCCAAATGCCCCCTCGCCCATGAAGTTTCCCCCAGTGCTCCTGTATTACCTGAGCAGACATTGAAGAGGACAGCCCATTGCCCCAAATAAAAATGGGACATGGTTCTGGGTAAATGTTGGGAGGTGCTAAGATTGGTGAATGGTGGTTCCTACGTGTCTCTAAGAGTTACTGCAGGGACACGTATATGCATTAAGATAGATTTACTGCAGCGGTTCTCAAAGTGGAGTCC... |
Task1_train_13026 | The variant affects gene SLC35D2-HSD17B3, HSD17B3 (SLC35D2-HSD17B3 readthrough| hydroxysteroid 17-beta dehydrogenase 3), which is on Chromosome 9. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Testosterone 17-beta-dehydrogenase deficiency | CCTCCAGAACCCTAAGAAATACATGCTTGCTTAGGCCACTCAGCTTATGGAATTCATTCTGCAGCTGAAGCTGATGAAGACCACATCTGTCTCAGAAATGGGTGTAATTACTATAACATAGTGGAAAGCACTGGAACCTTACATATATTCACAACCTCTAACCCAGCAAGACCACCTCAAGAAAATAGCTCCCAAAATAATTGGATATAAGCAGAAAAGTTTCTGTATTTACTCCCAATTTTATATAAAATGAAGAAAAATTCAGAAAAAAATTAAAATTTTTACCAAGAAAATGGTTAAATTATGGACCATCCATTTGA... | CCTCCAGAACCCTAAGAAATACATGCTTGCTTAGGCCACTCAGCTTATGGAATTCATTCTGCAGCTGAAGCTGATGAAGACCACATCTGTCTCAGAAATGGGTGTAATTACTATAACATAGTGGAAAGCACTGGAACCTTACATATATTCACAACCTCTAACCCAGCAAGACCACCTCAAGAAAATAGCTCCCAAAATAATTGGATATAAGCAGAAAAGTTTCTGTATTTACTCCCAATTTTATATAAAATGAAGAAAAATTCAGAAAAAAATTAAAATTTTTACCAAGAAAATGGTTAAATTATGGACCATCCATTTGA... |
Task1_train_13027 | Assess the clinical impact of this variant on gene FOXE1 (forkhead box E1), found on Chromosome 9. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Bamforth-Lazarus syndrome | CAGCACACGCCCTCCAGCTGCTATTTAACAGAGTAGAACACTGAGGCCCTGCGAGGGGACAAGGACAGGCCCTGGATCTCCCAGTGAATGGCCAGGGAACGAACCCGGGCCAGAGGGGCCGCGCCGCGAGGATCTCAGGTTAGGACCAAGTTCCGGCTCAGGGACAGCAGGAAAGGAACTCAGAAATTGGACACCCATGAAGCAAACGTGTCCCGACTGCCCGCCCCTTCCCCCGGAGACGCGCCCACCCGGCCACCGCTCTCTTCCCACTCCCCCATTACCCGCAGCCCTCACTCCCCGCTGCGGGAAGGGGCTGCTTG... | CAGCACACGCCCTCCAGCTGCTATTTAACAGAGTAGAACACTGAGGCCCTGCGAGGGGACAAGGACAGGCCCTGGATCTCCCAGTGAATGGCCAGGGAACGAACCCGGGCCAGAGGGGCCGCGCCGCGAGGATCTCAGGTTAGGACCAAGTTCCGGCTCAGGGACAGCAGGAAAGGAACTCAGAAATTGGACACCCATGAAGCAAACGTGTCCCGACTGCCCGCCCCTTCCCCCGGAGACGCGCCCACCCGGCCACCGCTCTCTTCCCACTCCCCCATTACCCGCAGCCCTCACTCCCCGCTGCGGGAAGGGGCTGCTTG... |
Task1_train_13028 | This sequence variant lies in FOXE1 (forkhead box E1) on Chromosome 9. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Bamforth-Lazarus syndrome | TTAACAGAGTAGAACACTGAGGCCCTGCGAGGGGACAAGGACAGGCCCTGGATCTCCCAGTGAATGGCCAGGGAACGAACCCGGGCCAGAGGGGCCGCGCCGCGAGGATCTCAGGTTAGGACCAAGTTCCGGCTCAGGGACAGCAGGAAAGGAACTCAGAAATTGGACACCCATGAAGCAAACGTGTCCCGACTGCCCGCCCCTTCCCCCGGAGACGCGCCCACCCGGCCACCGCTCTCTTCCCACTCCCCCATTACCCGCAGCCCTCACTCCCCGCTGCGGGAAGGGGCTGCTTGGCTGCCTCTGGGGGTCTTCAGAGC... | TTAACAGAGTAGAACACTGAGGCCCTGCGAGGGGACAAGGACAGGCCCTGGATCTCCCAGTGAATGGCCAGGGAACGAACCCGGGCCAGAGGGGCCGCGCCGCGAGGATCTCAGGTTAGGACCAAGTTCCGGCTCAGGGACAGCAGGAAAGGAACTCAGAAATTGGACACCCATGAAGCAAACGTGTCCCGACTGCCCGCCCCTTCCCCCGGAGACGCGCCCACCCGGCCACCGCTCTCTTCCCACTCCCCCATTACCCGCAGCCCTCACTCCCCGCTGCGGGAAGGGGCTGCTTGGCTGCCTCTGGGGGTCTTCAGAGC... |
Task1_train_13029 | Here’s a variant in FOXE1 (forkhead box E1) located on Chromosome 9. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Bamforth-Lazarus syndrome | TCAGGTTAGGACCAAGTTCCGGCTCAGGGACAGCAGGAAAGGAACTCAGAAATTGGACACCCATGAAGCAAACGTGTCCCGACTGCCCGCCCCTTCCCCCGGAGACGCGCCCACCCGGCCACCGCTCTCTTCCCACTCCCCCATTACCCGCAGCCCTCACTCCCCGCTGCGGGAAGGGGCTGCTTGGCTGCCTCTGGGGGTCTTCAGAGCTACCCTGGTCCCGGGGGATTGGAGGAGGAGGTTACCTATCCTGCGTCGTCTTTAATCCGTGCACCACTATCCATCAAATAGAGACAGATCCTGGGCCTCTCAAAGACGGA... | TCAGGTTAGGACCAAGTTCCGGCTCAGGGACAGCAGGAAAGGAACTCAGAAATTGGACACCCATGAAGCAAACGTGTCCCGACTGCCCGCCCCTTCCCCCGGAGACGCGCCCACCCGGCCACCGCTCTCTTCCCACTCCCCCATTACCCGCAGCCCTCACTCCCCGCTGCGGGAAGGGGCTGCTTGGCTGCCTCTGGGGGTCTTCAGAGCTACCCTGGTCCCGGGGGATTGGAGGAGGAGGTTACCTATCCTGCGTCGTCTTTAATCCGTGCACCACTATCCATCAAATAGAGACAGATCCTGGGCCTCTCAAAGACGGA... |
Task1_train_13030 | This variant lies on Chromosome 9 and affects the gene NANS, TRIM14 (N-acetylneuraminate synthase| tripartite motif containing 14). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Spondyloepimetaphyseal dysplasia, Genevieve type | GAAAAAATATATTTAAAACTGATGTTTTTTCAGTTCTGTCTTAGGGCTAGTTAGCAGTGTTATGAGACACAAACAGGAAGGAGTGAGGTGGAAAGGTATGGAAGGTACTGGGCATGGCAGCTGAAGCTTGCAACCCCAGCACTGTGGGAGGCCAGGGTGGGACAACTGCTTGAGGTCAGGAGTTTGAGAACAGCCCGGGCAACATAGCAAGACCCCATCTCCACAGCAAATTAAAAAAAAAAAAAAATTAGCCACATGTGGTGGCACGTGCTTGTGGTCCCAGCTACTTGGGAGACTGAGGCAGGAGGATTGCTTGACCC... | GAAAAAATATATTTAAAACTGATGTTTTTTCAGTTCTGTCTTAGGGCTAGTTAGCAGTGTTATGAGACACAAACAGGAAGGAGTGAGGTGGAAAGGTATGGAAGGTACTGGGCATGGCAGCTGAAGCTTGCAACCCCAGCACTGTGGGAGGCCAGGGTGGGACAACTGCTTGAGGTCAGGAGTTTGAGAACAGCCCGGGCAACATAGCAAGACCCCATCTCCACAGCAAATTAAAAAAAAAAAAAAATTAGCCACATGTGGTGGCACGTGCTTGTGGTCCCAGCTACTTGGGAGACTGAGGCAGGAGGATTGCTTGACCC... |
Task1_train_13031 | A mutation found in NANS, TRIM14 (N-acetylneuraminate synthase| tripartite motif containing 14) on Chromosome 9 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Spondyloepimetaphyseal dysplasia, Genevieve type | ATGTTTTCACTGCCTGGTTTTCTGGGTCAGGATTAGGTCATGACCGTTTCATGTTTGTTCATTTGGCCTTGGGCCCCTGGGGCAGGTAGGGTCTGGCCAGGGGAAAGGTTCTTTTCCAGATTCTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTGGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGATCACAGGTGCCCGCCACCACACCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATG... | ATGTTTTCACTGCCTGGTTTTCTGGGTCAGGATTAGGTCATGACCGTTTCATGTTTGTTCATTTGGCCTTGGGCCCCTGGGGCAGGTAGGGTCTGGCCAGGGGAAAGGTTCTTTTCCAGATTCTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTGGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGATCACAGGTGCCCGCCACCACACCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATG... |
Task1_train_13032 | This alteration occurs within gene NANS, TRIM14 (N-acetylneuraminate synthase| tripartite motif containing 14) located on Chromosome 9. Is it associated with a disease or is it a benign variant? | Pathogenic; Spondyloepimetaphyseal dysplasia, Genevieve type | ATTTGGGATGATTTTACCTTTTGGCTATTGTGAATGATGCTGCTATGAACACTAGCGTACAGATAAATATTCATCTTTTTTCATACTGAGTTATAGGAGGCCTTCTTGAAACTTCCTGGCTTTTTCTGCTTTATTTGCTGACTCTCTTATTTTCTAATGCTGAGCATCCCTGAGGCTCATACTAGTTATAGTGACAGCCTTGATGGAAATTACTCTCTCCCACGATTTTGCCTACTCAGTCATTTCACAGATGGTGAAATCCAGTCCCAAGTCGGGAAGCCTGAGATCCCACAGCAGCTTGGTGGCAAAGCTGGAACTAG... | ATTTGGGATGATTTTACCTTTTGGCTATTGTGAATGATGCTGCTATGAACACTAGCGTACAGATAAATATTCATCTTTTTTCATACTGAGTTATAGGAGGCCTTCTTGAAACTTCCTGGCTTTTTCTGCTTTATTTGCTGACTCTCTTATTTTCTAATGCTGAGCATCCCTGAGGCTCATACTAGTTATAGTGACAGCCTTGATGGAAATTACTCTCTCCCACGATTTTGCCTACTCAGTCATTTCACAGATGGTGAAATCCAGTCCCAAGTCGGGAAGCCTGAGATCCCACAGCAGCTTGGTGGCAAAGCTGGAACTAG... |
Task1_train_13033 | This alteration occurs within gene GABBR2 (gamma-aminobutyric acid type B receptor subunit 2) located on Chromosome 9. Is it associated with a disease or is it a benign variant? | Pathogenic; Developmental and epileptic encephalopathy, 59 | ACCACAGTGCCATGGCCTGCTGGGCTTTGAGGGCGGTCTGGAGGGATGGTGGGGGGAAGGGAACTCCAAGGGAAGAACTGGTGTCTGGCAACGCAGGGAGGCCTGGGGTAAATGGAAGGGGAAGGGCAGGCTGGGTGGTGGACAGGGTTCTCTGGGGAGACTAGAGGAGACCCAAGGGTCCTGAGAGCCAGCCCAACATCAGAAACCTGATCCTAGAGCCAGGAGGACAATGGGGAGCTATTGGGCGTAACAGAGCAGAGTGCCGCAATTGAAGCTTGGCTTAGAGAATCATCTGGCCTCTTTTACAGGATGGAAAGAAT... | ACCACAGTGCCATGGCCTGCTGGGCTTTGAGGGCGGTCTGGAGGGATGGTGGGGGGAAGGGAACTCCAAGGGAAGAACTGGTGTCTGGCAACGCAGGGAGGCCTGGGGTAAATGGAAGGGGAAGGGCAGGCTGGGTGGTGGACAGGGTTCTCTGGGGAGACTAGAGGAGACCCAAGGGTCCTGAGAGCCAGCCCAACATCAGAAACCTGATCCTAGAGCCAGGAGGACAATGGGGAGCTATTGGGCGTAACAGAGCAGAGTGCCGCAATTGAAGCTTGGCTTAGAGAATCATCTGGCCTCTTTTACAGGATGGAAAGAAT... |
Task1_train_13034 | Chromosome 9 houses a mutation in gene GABBR2 (gamma-aminobutyric acid type B receptor subunit 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Developmental and epileptic encephalopathy, 59 | GGGCGGTCTGGAGGGATGGTGGGGGGAAGGGAACTCCAAGGGAAGAACTGGTGTCTGGCAACGCAGGGAGGCCTGGGGTAAATGGAAGGGGAAGGGCAGGCTGGGTGGTGGACAGGGTTCTCTGGGGAGACTAGAGGAGACCCAAGGGTCCTGAGAGCCAGCCCAACATCAGAAACCTGATCCTAGAGCCAGGAGGACAATGGGGAGCTATTGGGCGTAACAGAGCAGAGTGCCGCAATTGAAGCTTGGCTTAGAGAATCATCTGGCCTCTTTTACAGGATGGAAAGAATGTCAGAGTGCAGGCAGAGAAGTCACGGTGT... | GGGCGGTCTGGAGGGATGGTGGGGGGAAGGGAACTCCAAGGGAAGAACTGGTGTCTGGCAACGCAGGGAGGCCTGGGGTAAATGGAAGGGGAAGGGCAGGCTGGGTGGTGGACAGGGTTCTCTGGGGAGACTAGAGGAGACCCAAGGGTCCTGAGAGCCAGCCCAACATCAGAAACCTGATCCTAGAGCCAGGAGGACAATGGGGAGCTATTGGGCGTAACAGAGCAGAGTGCCGCAATTGAAGCTTGGCTTAGAGAATCATCTGGCCTCTTTTACAGGATGGAAAGAATGTCAGAGTGCAGGCAGAGAAGTCACGGTGT... |
Task1_train_13035 | Given this variant in gene GABBR2 (gamma-aminobutyric acid type B receptor subunit 2) on Chromosome 9, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 59 | CTGGAGGGATGGTGGGGGGAAGGGAACTCCAAGGGAAGAACTGGTGTCTGGCAACGCAGGGAGGCCTGGGGTAAATGGAAGGGGAAGGGCAGGCTGGGTGGTGGACAGGGTTCTCTGGGGAGACTAGAGGAGACCCAAGGGTCCTGAGAGCCAGCCCAACATCAGAAACCTGATCCTAGAGCCAGGAGGACAATGGGGAGCTATTGGGCGTAACAGAGCAGAGTGCCGCAATTGAAGCTTGGCTTAGAGAATCATCTGGCCTCTTTTACAGGATGGAAAGAATGTCAGAGTGCAGGCAGAGAAGTCACGGTGTTGCCCTT... | CTGGAGGGATGGTGGGGGGAAGGGAACTCCAAGGGAAGAACTGGTGTCTGGCAACGCAGGGAGGCCTGGGGTAAATGGAAGGGGAAGGGCAGGCTGGGTGGTGGACAGGGTTCTCTGGGGAGACTAGAGGAGACCCAAGGGTCCTGAGAGCCAGCCCAACATCAGAAACCTGATCCTAGAGCCAGGAGGACAATGGGGAGCTATTGGGCGTAACAGAGCAGAGTGCCGCAATTGAAGCTTGGCTTAGAGAATCATCTGGCCTCTTTTACAGGATGGAAAGAATGTCAGAGTGCAGGCAGAGAAGTCACGGTGTTGCCCTT... |
Task1_train_13036 | Here’s a variant in GABBR2 (gamma-aminobutyric acid type B receptor subunit 2) located on Chromosome 9. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Epileptic encephalopathy | CTGGAGGGATGGTGGGGGGAAGGGAACTCCAAGGGAAGAACTGGTGTCTGGCAACGCAGGGAGGCCTGGGGTAAATGGAAGGGGAAGGGCAGGCTGGGTGGTGGACAGGGTTCTCTGGGGAGACTAGAGGAGACCCAAGGGTCCTGAGAGCCAGCCCAACATCAGAAACCTGATCCTAGAGCCAGGAGGACAATGGGGAGCTATTGGGCGTAACAGAGCAGAGTGCCGCAATTGAAGCTTGGCTTAGAGAATCATCTGGCCTCTTTTACAGGATGGAAAGAATGTCAGAGTGCAGGCAGAGAAGTCACGGTGTTGCCCTT... | CTGGAGGGATGGTGGGGGGAAGGGAACTCCAAGGGAAGAACTGGTGTCTGGCAACGCAGGGAGGCCTGGGGTAAATGGAAGGGGAAGGGCAGGCTGGGTGGTGGACAGGGTTCTCTGGGGAGACTAGAGGAGACCCAAGGGTCCTGAGAGCCAGCCCAACATCAGAAACCTGATCCTAGAGCCAGGAGGACAATGGGGAGCTATTGGGCGTAACAGAGCAGAGTGCCGCAATTGAAGCTTGGCTTAGAGAATCATCTGGCCTCTTTTACAGGATGGAAAGAATGTCAGAGTGCAGGCAGAGAAGTCACGGTGTTGCCCTT... |
Task1_train_13037 | Here is a genetic alteration in GABBR2 (gamma-aminobutyric acid type B receptor subunit 2) on Chromosome 9. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Epileptic encephalopathy | TATGTTAATGTGTCCACATTCTACAGATGAGGACACAGAAGTCCTGAAAGACTAAGAGCTTTGTCTAACACGGCAGATCAGCAGTGGAGCAGAGCCTAGAACTCCAGGCTTCTGTTTAGCCTGTTGGCCTCACTGCTCGGGCTGGGTTGCTGTCTGCCACTGGTGCCAGGTAGCCAGGGAGCAAAATGCAGGCTTGGATGAAAAACCAGAACAACAGGCTCCATGTTCCACTGGGATGAGCCCACAGTGAGGATCTGCAGAGGAGGTGTTGGTAAACAGGTGATGCCCACATCAGGATTTGAAGAGTGTGTGCAGGGGGC... | TATGTTAATGTGTCCACATTCTACAGATGAGGACACAGAAGTCCTGAAAGACTAAGAGCTTTGTCTAACACGGCAGATCAGCAGTGGAGCAGAGCCTAGAACTCCAGGCTTCTGTTTAGCCTGTTGGCCTCACTGCTCGGGCTGGGTTGCTGTCTGCCACTGGTGCCAGGTAGCCAGGGAGCAAAATGCAGGCTTGGATGAAAAACCAGAACAACAGGCTCCATGTTCCACTGGGATGAGCCCACAGTGAGGATCTGCAGAGGAGGTGTTGGTAAACAGGTGATGCCCACATCAGGATTTGAAGAGTGTGTGCAGGGGGC... |
Task1_train_13038 | Gene GABBR2 (gamma-aminobutyric acid type B receptor subunit 2), found on Chromosome 9, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Inborn genetic diseases | ATGTTAATGTGTCCACATTCTACAGATGAGGACACAGAAGTCCTGAAAGACTAAGAGCTTTGTCTAACACGGCAGATCAGCAGTGGAGCAGAGCCTAGAACTCCAGGCTTCTGTTTAGCCTGTTGGCCTCACTGCTCGGGCTGGGTTGCTGTCTGCCACTGGTGCCAGGTAGCCAGGGAGCAAAATGCAGGCTTGGATGAAAAACCAGAACAACAGGCTCCATGTTCCACTGGGATGAGCCCACAGTGAGGATCTGCAGAGGAGGTGTTGGTAAACAGGTGATGCCCACATCAGGATTTGAAGAGTGTGTGCAGGGGGCT... | ATGTTAATGTGTCCACATTCTACAGATGAGGACACAGAAGTCCTGAAAGACTAAGAGCTTTGTCTAACACGGCAGATCAGCAGTGGAGCAGAGCCTAGAACTCCAGGCTTCTGTTTAGCCTGTTGGCCTCACTGCTCGGGCTGGGTTGCTGTCTGCCACTGGTGCCAGGTAGCCAGGGAGCAAAATGCAGGCTTGGATGAAAAACCAGAACAACAGGCTCCATGTTCCACTGGGATGAGCCCACAGTGAGGATCTGCAGAGGAGGTGTTGGTAAACAGGTGATGCCCACATCAGGATTTGAAGAGTGTGTGCAGGGGGCT... |
Task1_train_13039 | This alteration in GABBR2 (gamma-aminobutyric acid type B receptor subunit 2) on Chromosome 9 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Neurodevelopmental disorder with poor language and loss of hand skills | ATGTTAATGTGTCCACATTCTACAGATGAGGACACAGAAGTCCTGAAAGACTAAGAGCTTTGTCTAACACGGCAGATCAGCAGTGGAGCAGAGCCTAGAACTCCAGGCTTCTGTTTAGCCTGTTGGCCTCACTGCTCGGGCTGGGTTGCTGTCTGCCACTGGTGCCAGGTAGCCAGGGAGCAAAATGCAGGCTTGGATGAAAAACCAGAACAACAGGCTCCATGTTCCACTGGGATGAGCCCACAGTGAGGATCTGCAGAGGAGGTGTTGGTAAACAGGTGATGCCCACATCAGGATTTGAAGAGTGTGTGCAGGGGGCT... | ATGTTAATGTGTCCACATTCTACAGATGAGGACACAGAAGTCCTGAAAGACTAAGAGCTTTGTCTAACACGGCAGATCAGCAGTGGAGCAGAGCCTAGAACTCCAGGCTTCTGTTTAGCCTGTTGGCCTCACTGCTCGGGCTGGGTTGCTGTCTGCCACTGGTGCCAGGTAGCCAGGGAGCAAAATGCAGGCTTGGATGAAAAACCAGAACAACAGGCTCCATGTTCCACTGGGATGAGCCCACAGTGAGGATCTGCAGAGGAGGTGTTGGTAAACAGGTGATGCCCACATCAGGATTTGAAGAGTGTGTGCAGGGGGCT... |
Task1_train_13040 | An alteration has been detected in GABBR2 (gamma-aminobutyric acid type B receptor subunit 2) on Chromosome 9. Is it pathogenic, and if so, what disease is involved? | Pathogenic; GABBR2-related disorder | ATGTTAATGTGTCCACATTCTACAGATGAGGACACAGAAGTCCTGAAAGACTAAGAGCTTTGTCTAACACGGCAGATCAGCAGTGGAGCAGAGCCTAGAACTCCAGGCTTCTGTTTAGCCTGTTGGCCTCACTGCTCGGGCTGGGTTGCTGTCTGCCACTGGTGCCAGGTAGCCAGGGAGCAAAATGCAGGCTTGGATGAAAAACCAGAACAACAGGCTCCATGTTCCACTGGGATGAGCCCACAGTGAGGATCTGCAGAGGAGGTGTTGGTAAACAGGTGATGCCCACATCAGGATTTGAAGAGTGTGTGCAGGGGGCT... | ATGTTAATGTGTCCACATTCTACAGATGAGGACACAGAAGTCCTGAAAGACTAAGAGCTTTGTCTAACACGGCAGATCAGCAGTGGAGCAGAGCCTAGAACTCCAGGCTTCTGTTTAGCCTGTTGGCCTCACTGCTCGGGCTGGGTTGCTGTCTGCCACTGGTGCCAGGTAGCCAGGGAGCAAAATGCAGGCTTGGATGAAAAACCAGAACAACAGGCTCCATGTTCCACTGGGATGAGCCCACAGTGAGGATCTGCAGAGGAGGTGTTGGTAAACAGGTGATGCCCACATCAGGATTTGAAGAGTGTGTGCAGGGGGCT... |
Task1_train_13041 | Gene GABBR2 (gamma-aminobutyric acid type B receptor subunit 2) on Chromosome 9 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Epileptic encephalopathy | ATGTTAATGTGTCCACATTCTACAGATGAGGACACAGAAGTCCTGAAAGACTAAGAGCTTTGTCTAACACGGCAGATCAGCAGTGGAGCAGAGCCTAGAACTCCAGGCTTCTGTTTAGCCTGTTGGCCTCACTGCTCGGGCTGGGTTGCTGTCTGCCACTGGTGCCAGGTAGCCAGGGAGCAAAATGCAGGCTTGGATGAAAAACCAGAACAACAGGCTCCATGTTCCACTGGGATGAGCCCACAGTGAGGATCTGCAGAGGAGGTGTTGGTAAACAGGTGATGCCCACATCAGGATTTGAAGAGTGTGTGCAGGGGGCT... | ATGTTAATGTGTCCACATTCTACAGATGAGGACACAGAAGTCCTGAAAGACTAAGAGCTTTGTCTAACACGGCAGATCAGCAGTGGAGCAGAGCCTAGAACTCCAGGCTTCTGTTTAGCCTGTTGGCCTCACTGCTCGGGCTGGGTTGCTGTCTGCCACTGGTGCCAGGTAGCCAGGGAGCAAAATGCAGGCTTGGATGAAAAACCAGAACAACAGGCTCCATGTTCCACTGGGATGAGCCCACAGTGAGGATCTGCAGAGGAGGTGTTGGTAAACAGGTGATGCCCACATCAGGATTTGAAGAGTGTGTGCAGGGGGCT... |
Task1_train_13042 | A mutation on Chromosome 9 affecting GABBR2 (gamma-aminobutyric acid type B receptor subunit 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Rett syndrome | ATGTTAATGTGTCCACATTCTACAGATGAGGACACAGAAGTCCTGAAAGACTAAGAGCTTTGTCTAACACGGCAGATCAGCAGTGGAGCAGAGCCTAGAACTCCAGGCTTCTGTTTAGCCTGTTGGCCTCACTGCTCGGGCTGGGTTGCTGTCTGCCACTGGTGCCAGGTAGCCAGGGAGCAAAATGCAGGCTTGGATGAAAAACCAGAACAACAGGCTCCATGTTCCACTGGGATGAGCCCACAGTGAGGATCTGCAGAGGAGGTGTTGGTAAACAGGTGATGCCCACATCAGGATTTGAAGAGTGTGTGCAGGGGGCT... | ATGTTAATGTGTCCACATTCTACAGATGAGGACACAGAAGTCCTGAAAGACTAAGAGCTTTGTCTAACACGGCAGATCAGCAGTGGAGCAGAGCCTAGAACTCCAGGCTTCTGTTTAGCCTGTTGGCCTCACTGCTCGGGCTGGGTTGCTGTCTGCCACTGGTGCCAGGTAGCCAGGGAGCAAAATGCAGGCTTGGATGAAAAACCAGAACAACAGGCTCCATGTTCCACTGGGATGAGCCCACAGTGAGGATCTGCAGAGGAGGTGTTGGTAAACAGGTGATGCCCACATCAGGATTTGAAGAGTGTGTGCAGGGGGCT... |
Task1_train_13043 | Located on Chromosome 9, this mutation impacts TGFBR1 (transforming growth factor beta receptor 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not provided | AACTTCTCATTTCCAGCTCTAGGATAAGCAAACAGCAAAAAATTACCAATGAAAAGTTAGGAGTTCAAAAGAAGTAGTCTGAACTAGATAGATTAGATGTCATCCTGTGAAATAGGTTTACCACATGATAGGGAAGAACTTTCAAACAGTACAGGGTCTATTTTCAGTTATTCACTATGAAATGAGAACATTTCACAGTTGTTAAAGGTTGCTTTCAGAAGAAAAGCCCAACTGATGAATGTTTTTAAAAATGCACTATTGAGAGCGAACAACAGACTGGATGCCATAATTTTATAGTCAAGTTTGGGACAAGTTTTAAG... | AACTTCTCATTTCCAGCTCTAGGATAAGCAAACAGCAAAAAATTACCAATGAAAAGTTAGGAGTTCAAAAGAAGTAGTCTGAACTAGATAGATTAGATGTCATCCTGTGAAATAGGTTTACCACATGATAGGGAAGAACTTTCAAACAGTACAGGGTCTATTTTCAGTTATTCACTATGAAATGAGAACATTTCACAGTTGTTAAAGGTTGCTTTCAGAAGAAAAGCCCAACTGATGAATGTTTTTAAAAATGCACTATTGAGAGCGAACAACAGACTGGATGCCATAATTTTATAGTCAAGTTTGGGACAAGTTTTAAG... |
Task1_train_13044 | This sequence variant lies in TGFBR1 (transforming growth factor beta receptor 1) on Chromosome 9. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Loeys-Dietz syndrome 1 | TTAGAAGAAAATTGTTACTTTTTTTTTTTTTTTTTTTGGAGACGGAGTTTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGGGATCTCAGCTCTCTGCAGCCTTCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCATGCCCAGCTAATTTTTGTATATTTATTAGAGACCAGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGATCTCTAGTGATCCAACCACGTCGGCCTCCTAAAGTGCTGGGATTAGAGGTGTGAGTCACTGTGCCTGGCC... | TTAGAAGAAAATTGTTACTTTTTTTTTTTTTTTTTTTGGAGACGGAGTTTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGGGATCTCAGCTCTCTGCAGCCTTCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCATGCCCAGCTAATTTTTGTATATTTATTAGAGACCAGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGATCTCTAGTGATCCAACCACGTCGGCCTCCTAAAGTGCTGGGATTAGAGGTGTGAGTCACTGTGCCTGGCC... |
Task1_train_13045 | The variant affects gene TGFBR1 (transforming growth factor beta receptor 1), which is on Chromosome 9. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCATGCCCAGCTAATTTTTGTATATTTATTAGAGACCAGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGATCTCTAGTGATCCAACCACGTCGGCCTCCTAAAGTGCTGGGATTAGAGGTGTGAGTCACTGTGCCTGGCCAATTGTTAACTTTTTAAAAATGCTCAACTATTCATGTGAAGTAATCCAATATAGATAATACAGTGGATCAAGATTTGCTTTTTAATTTTAATTGACATCTAGAATCCAGTGATAAA... | TTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCATGCCCAGCTAATTTTTGTATATTTATTAGAGACCAGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGATCTCTAGTGATCCAACCACGTCGGCCTCCTAAAGTGCTGGGATTAGAGGTGTGAGTCACTGTGCCTGGCCAATTGTTAACTTTTTAAAAATGCTCAACTATTCATGTGAAGTAATCCAATATAGATAATACAGTGGATCAAGATTTGCTTTTTAATTTTAATTGACATCTAGAATCCAGTGATAAA... |
Task1_train_13046 | The gene TGFBR1 (transforming growth factor beta receptor 1) is located on Chromosome 9, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TAGTTCTCATTTTCGTTTCTGCCTTTATCACCATTTATTTCCTCCCCCAACTCTTAAAACAACCTTTTCTTTATTTACTGTGTTTGATGACCCTAGACTTTCCTTGTTCCTTCTTACTTCTTCATAGTTGTCTTTGTTTTCTCAACTCTTACTCTTCTCACTGGTTCATATGAAGGTACTGATTTTATAAGTGGTAATTTCTTCCTTAAGAACATAGCCACATTCATGGTTTCAAACTCTACCATGTTGGCAACTCTCAAATCTCCATTTGAAAGCTTAAACCTCACCCAGGGTCTGGATTTTGTCACATTCCAAGTTAC... | TAGTTCTCATTTTCGTTTCTGCCTTTATCACCATTTATTTCCTCCCCCAACTCTTAAAACAACCTTTTCTTTATTTACTGTGTTTGATGACCCTAGACTTTCCTTGTTCCTTCTTACTTCTTCATAGTTGTCTTTGTTTTCTCAACTCTTACTCTTCTCACTGGTTCATATGAAGGTACTGATTTTATAAGTGGTAATTTCTTCCTTAAGAACATAGCCACATTCATGGTTTCAAACTCTACCATGTTGGCAACTCTCAAATCTCCATTTGAAAGCTTAAACCTCACCCAGGGTCTGGATTTTGTCACATTCCAAGTTAC... |
Task1_train_13047 | Given this context: Chromosome 9, gene TGFBR1 (transforming growth factor beta receptor 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CCTTCTTACTTCTTCATAGTTGTCTTTGTTTTCTCAACTCTTACTCTTCTCACTGGTTCATATGAAGGTACTGATTTTATAAGTGGTAATTTCTTCCTTAAGAACATAGCCACATTCATGGTTTCAAACTCTACCATGTTGGCAACTCTCAAATCTCCATTTGAAAGCTTAAACCTCACCCAGGGTCTGGATTTTGTCACATTCCAAGTTACAAACACAGCAGCACAAAATGTTGGTGAGTCTGTGCCCTGAACTTCTAACCAGGCTGATGCTGTCATCTGGTGGTCACCATGGGAACTAGCTGACCCTACTGGCTCTTC... | CCTTCTTACTTCTTCATAGTTGTCTTTGTTTTCTCAACTCTTACTCTTCTCACTGGTTCATATGAAGGTACTGATTTTATAAGTGGTAATTTCTTCCTTAAGAACATAGCCACATTCATGGTTTCAAACTCTACCATGTTGGCAACTCTCAAATCTCCATTTGAAAGCTTAAACCTCACCCAGGGTCTGGATTTTGTCACATTCCAAGTTACAAACACAGCAGCACAAAATGTTGGTGAGTCTGTGCCCTGAACTTCTAACCAGGCTGATGCTGTCATCTGGTGGTCACCATGGGAACTAGCTGACCCTACTGGCTCTTC... |
Task1_train_13048 | An alteration has been detected in TGFBR1 (transforming growth factor beta receptor 1) on Chromosome 9. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Loeys-Dietz syndrome 1 | TTCTTCATAGTTGTCTTTGTTTTCTCAACTCTTACTCTTCTCACTGGTTCATATGAAGGTACTGATTTTATAAGTGGTAATTTCTTCCTTAAGAACATAGCCACATTCATGGTTTCAAACTCTACCATGTTGGCAACTCTCAAATCTCCATTTGAAAGCTTAAACCTCACCCAGGGTCTGGATTTTGTCACATTCCAAGTTACAAACACAGCAGCACAAAATGTTGGTGAGTCTGTGCCCTGAACTTCTAACCAGGCTGATGCTGTCATCTGGTGGTCACCATGGGAACTAGCTGACCCTACTGGCTCTTCCCTACTCCC... | TTCTTCATAGTTGTCTTTGTTTTCTCAACTCTTACTCTTCTCACTGGTTCATATGAAGGTACTGATTTTATAAGTGGTAATTTCTTCCTTAAGAACATAGCCACATTCATGGTTTCAAACTCTACCATGTTGGCAACTCTCAAATCTCCATTTGAAAGCTTAAACCTCACCCAGGGTCTGGATTTTGTCACATTCCAAGTTACAAACACAGCAGCACAAAATGTTGGTGAGTCTGTGCCCTGAACTTCTAACCAGGCTGATGCTGTCATCTGGTGGTCACCATGGGAACTAGCTGACCCTACTGGCTCTTCCCTACTCCC... |
Task1_train_13049 | A genomic change on Chromosome 9 affects TGFBR1 (transforming growth factor beta receptor 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | AGCAGTTCTATTATTTAAGCTTTAAATTTTCATGAATAATGTCTATGAAAATAGAAGGTGGAGGCTGGGCCTGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCGCCCGATCTCAGGAGTTCATGGCCAGCCTGGGCAACATGACAAAACCGCATCTCTACCAACATACAAAAAATTAGTCGGGCATGGTGGCATGCACCTGTAGTCCCAGCTACTCAGGGGGCTGAGGTAGGAGGATTACCTGAGCCTGGGAGGTCGAAGCTGCAGTGAGCAGACATCATGCCACTGCACTCCCAGCTG... | AGCAGTTCTATTATTTAAGCTTTAAATTTTCATGAATAATGTCTATGAAAATAGAAGGTGGAGGCTGGGCCTGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCGCCCGATCTCAGGAGTTCATGGCCAGCCTGGGCAACATGACAAAACCGCATCTCTACCAACATACAAAAAATTAGTCGGGCATGGTGGCATGCACCTGTAGTCCCAGCTACTCAGGGGGCTGAGGTAGGAGGATTACCTGAGCCTGGGAGGTCGAAGCTGCAGTGAGCAGACATCATGCCACTGCACTCCCAGCTG... |
Task1_train_13050 | Here is a variant affecting TGFBR1 (transforming growth factor beta receptor 1) on Chromosome 9. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Loeys-Dietz syndrome | GAAGGTGGAGGCTGGGCCTGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCGCCCGATCTCAGGAGTTCATGGCCAGCCTGGGCAACATGACAAAACCGCATCTCTACCAACATACAAAAAATTAGTCGGGCATGGTGGCATGCACCTGTAGTCCCAGCTACTCAGGGGGCTGAGGTAGGAGGATTACCTGAGCCTGGGAGGTCGAAGCTGCAGTGAGCAGACATCATGCCACTGCACTCCCAGCTGAGTAATAGAGAGAGACCCTGTCTCAGAAAAAAAAACAAAAACAAAAACAGTAG... | GAAGGTGGAGGCTGGGCCTGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCGCCCGATCTCAGGAGTTCATGGCCAGCCTGGGCAACATGACAAAACCGCATCTCTACCAACATACAAAAAATTAGTCGGGCATGGTGGCATGCACCTGTAGTCCCAGCTACTCAGGGGGCTGAGGTAGGAGGATTACCTGAGCCTGGGAGGTCGAAGCTGCAGTGAGCAGACATCATGCCACTGCACTCCCAGCTGAGTAATAGAGAGAGACCCTGTCTCAGAAAAAAAAACAAAAACAAAAACAGTAG... |
Task1_train_13051 | A variant affecting Chromosome 9, within the gene TGFBR1 (transforming growth factor beta receptor 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Loeys-Dietz syndrome 1 | CATCTTTTAAAGCATGTTATTGTCCACATTTTCTTTAAAGAAATATAAATTCAGTGACTTTTGGTGTAGTGATTCACTTGAGTTTAATAATGCCGTAAGTATTGTAGGTCATGTGGGCTGAAATGCTTTGATAATTTGGGTTGGGAGAAGAGACTTTTGAACCTAAAGATGTGAGTTGTGATTGGTATTACCTTTTAAGCAGTCATGTTTAATTTTTGATTCTTTAGGAAAGCCAGCCATTGCTCATAGAGATTTGAAATCAAAGAATATCTTGGTAAAGAAGAATGGAACTTGCTGTATTGCAGACTTAGGACTGGCAG... | CATCTTTTAAAGCATGTTATTGTCCACATTTTCTTTAAAGAAATATAAATTCAGTGACTTTTGGTGTAGTGATTCACTTGAGTTTAATAATGCCGTAAGTATTGTAGGTCATGTGGGCTGAAATGCTTTGATAATTTGGGTTGGGAGAAGAGACTTTTGAACCTAAAGATGTGAGTTGTGATTGGTATTACCTTTTAAGCAGTCATGTTTAATTTTTGATTCTTTAGGAAAGCCAGCCATTGCTCATAGAGATTTGAAATCAAAGAATATCTTGGTAAAGAAGAATGGAACTTGCTGTATTGCAGACTTAGGACTGGCAG... |
Task1_train_13052 | This mutation occurs in TGFBR1 (transforming growth factor beta receptor 1) on Chromosome 9. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TTTCTCTGTATTGTAGTAAATAGGATATATTATTGACAGATGCAAGTAGAGAAAGGGACTTGGCACCTTAAACTTGCCTCATAAGATTCAAGTCTCACTGATAGGGTATATATATCCCTGTGCAAGTGAGAGCCTGTGCACTTACAGAATAGAATCTCATTTGCTGCACAATAGGGTTCTAGGGGAAAATGTCAATCTGGTCATCACAGCTCATAGTTTACTGTCATTTCAAATAGGCTTTATTGATCTCATGGCAATACTTAGTTTCAAGGTGTGGGTGGAATATCAACTCAGGGAAGTGGCTTGTGGATACAGATGTG... | TTTCTCTGTATTGTAGTAAATAGGATATATTATTGACAGATGCAAGTAGAGAAAGGGACTTGGCACCTTAAACTTGCCTCATAAGATTCAAGTCTCACTGATAGGGTATATATATCCCTGTGCAAGTGAGAGCCTGTGCACTTACAGAATAGAATCTCATTTGCTGCACAATAGGGTTCTAGGGGAAAATGTCAATCTGGTCATCACAGCTCATAGTTTACTGTCATTTCAAATAGGCTTTATTGATCTCATGGCAATACTTAGTTTCAAGGTGTGGGTGGAATATCAACTCAGGGAAGTGGCTTGTGGATACAGATGTG... |
Task1_train_13053 | This alteration occurs within gene TGFBR1 (transforming growth factor beta receptor 1) located on Chromosome 9. Is it associated with a disease or is it a benign variant? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TAAATAGGATATATTATTGACAGATGCAAGTAGAGAAAGGGACTTGGCACCTTAAACTTGCCTCATAAGATTCAAGTCTCACTGATAGGGTATATATATCCCTGTGCAAGTGAGAGCCTGTGCACTTACAGAATAGAATCTCATTTGCTGCACAATAGGGTTCTAGGGGAAAATGTCAATCTGGTCATCACAGCTCATAGTTTACTGTCATTTCAAATAGGCTTTATTGATCTCATGGCAATACTTAGTTTCAAGGTGTGGGTGGAATATCAACTCAGGGAAGTGGCTTGTGGATACAGATGTGGATGAGATAGAGAAAG... | TAAATAGGATATATTATTGACAGATGCAAGTAGAGAAAGGGACTTGGCACCTTAAACTTGCCTCATAAGATTCAAGTCTCACTGATAGGGTATATATATCCCTGTGCAAGTGAGAGCCTGTGCACTTACAGAATAGAATCTCATTTGCTGCACAATAGGGTTCTAGGGGAAAATGTCAATCTGGTCATCACAGCTCATAGTTTACTGTCATTTCAAATAGGCTTTATTGATCTCATGGCAATACTTAGTTTCAAGGTGTGGGTGGAATATCAACTCAGGGAAGTGGCTTGTGGATACAGATGTGGATGAGATAGAGAAAG... |
Task1_train_13054 | This alteration in TGFBR1 (transforming growth factor beta receptor 1) on Chromosome 9 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Loeys-Dietz syndrome | TAAATAGGATATATTATTGACAGATGCAAGTAGAGAAAGGGACTTGGCACCTTAAACTTGCCTCATAAGATTCAAGTCTCACTGATAGGGTATATATATCCCTGTGCAAGTGAGAGCCTGTGCACTTACAGAATAGAATCTCATTTGCTGCACAATAGGGTTCTAGGGGAAAATGTCAATCTGGTCATCACAGCTCATAGTTTACTGTCATTTCAAATAGGCTTTATTGATCTCATGGCAATACTTAGTTTCAAGGTGTGGGTGGAATATCAACTCAGGGAAGTGGCTTGTGGATACAGATGTGGATGAGATAGAGAAAG... | TAAATAGGATATATTATTGACAGATGCAAGTAGAGAAAGGGACTTGGCACCTTAAACTTGCCTCATAAGATTCAAGTCTCACTGATAGGGTATATATATCCCTGTGCAAGTGAGAGCCTGTGCACTTACAGAATAGAATCTCATTTGCTGCACAATAGGGTTCTAGGGGAAAATGTCAATCTGGTCATCACAGCTCATAGTTTACTGTCATTTCAAATAGGCTTTATTGATCTCATGGCAATACTTAGTTTCAAGGTGTGGGTGGAATATCAACTCAGGGAAGTGGCTTGTGGATACAGATGTGGATGAGATAGAGAAAG... |
Task1_train_13055 | This variant affects gene TGFBR1 (transforming growth factor beta receptor 1) located on Chromosome 9. Evaluate its biological effect and specify any disease association. | Pathogenic; Loeys-Dietz syndrome 1 | TAAATAGGATATATTATTGACAGATGCAAGTAGAGAAAGGGACTTGGCACCTTAAACTTGCCTCATAAGATTCAAGTCTCACTGATAGGGTATATATATCCCTGTGCAAGTGAGAGCCTGTGCACTTACAGAATAGAATCTCATTTGCTGCACAATAGGGTTCTAGGGGAAAATGTCAATCTGGTCATCACAGCTCATAGTTTACTGTCATTTCAAATAGGCTTTATTGATCTCATGGCAATACTTAGTTTCAAGGTGTGGGTGGAATATCAACTCAGGGAAGTGGCTTGTGGATACAGATGTGGATGAGATAGAGAAAG... | TAAATAGGATATATTATTGACAGATGCAAGTAGAGAAAGGGACTTGGCACCTTAAACTTGCCTCATAAGATTCAAGTCTCACTGATAGGGTATATATATCCCTGTGCAAGTGAGAGCCTGTGCACTTACAGAATAGAATCTCATTTGCTGCACAATAGGGTTCTAGGGGAAAATGTCAATCTGGTCATCACAGCTCATAGTTTACTGTCATTTCAAATAGGCTTTATTGATCTCATGGCAATACTTAGTTTCAAGGTGTGGGTGGAATATCAACTCAGGGAAGTGGCTTGTGGATACAGATGTGGATGAGATAGAGAAAG... |
Task1_train_13056 | A genetic alteration is present in TGFBR1 (transforming growth factor beta receptor 1) on Chromosome 9. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TAAATAGGATATATTATTGACAGATGCAAGTAGAGAAAGGGACTTGGCACCTTAAACTTGCCTCATAAGATTCAAGTCTCACTGATAGGGTATATATATCCCTGTGCAAGTGAGAGCCTGTGCACTTACAGAATAGAATCTCATTTGCTGCACAATAGGGTTCTAGGGGAAAATGTCAATCTGGTCATCACAGCTCATAGTTTACTGTCATTTCAAATAGGCTTTATTGATCTCATGGCAATACTTAGTTTCAAGGTGTGGGTGGAATATCAACTCAGGGAAGTGGCTTGTGGATACAGATGTGGATGAGATAGAGAAAG... | TAAATAGGATATATTATTGACAGATGCAAGTAGAGAAAGGGACTTGGCACCTTAAACTTGCCTCATAAGATTCAAGTCTCACTGATAGGGTATATATATCCCTGTGCAAGTGAGAGCCTGTGCACTTACAGAATAGAATCTCATTTGCTGCACAATAGGGTTCTAGGGGAAAATGTCAATCTGGTCATCACAGCTCATAGTTTACTGTCATTTCAAATAGGCTTTATTGATCTCATGGCAATACTTAGTTTCAAGGTGTGGGTGGAATATCAACTCAGGGAAGTGGCTTGTGGATACAGATGTGGATGAGATAGAGAAAG... |
Task1_train_13057 | Located on Chromosome 9, this mutation impacts TGFBR1 (transforming growth factor beta receptor 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Loeys-Dietz syndrome | TAAATAGGATATATTATTGACAGATGCAAGTAGAGAAAGGGACTTGGCACCTTAAACTTGCCTCATAAGATTCAAGTCTCACTGATAGGGTATATATATCCCTGTGCAAGTGAGAGCCTGTGCACTTACAGAATAGAATCTCATTTGCTGCACAATAGGGTTCTAGGGGAAAATGTCAATCTGGTCATCACAGCTCATAGTTTACTGTCATTTCAAATAGGCTTTATTGATCTCATGGCAATACTTAGTTTCAAGGTGTGGGTGGAATATCAACTCAGGGAAGTGGCTTGTGGATACAGATGTGGATGAGATAGAGAAAG... | TAAATAGGATATATTATTGACAGATGCAAGTAGAGAAAGGGACTTGGCACCTTAAACTTGCCTCATAAGATTCAAGTCTCACTGATAGGGTATATATATCCCTGTGCAAGTGAGAGCCTGTGCACTTACAGAATAGAATCTCATTTGCTGCACAATAGGGTTCTAGGGGAAAATGTCAATCTGGTCATCACAGCTCATAGTTTACTGTCATTTCAAATAGGCTTTATTGATCTCATGGCAATACTTAGTTTCAAGGTGTGGGTGGAATATCAACTCAGGGAAGTGGCTTGTGGATACAGATGTGGATGAGATAGAGAAAG... |
Task1_train_13058 | Gene TGFBR1 (transforming growth factor beta receptor 1), found on Chromosome 9, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Loeys-Dietz syndrome 1 | TAAATAGGATATATTATTGACAGATGCAAGTAGAGAAAGGGACTTGGCACCTTAAACTTGCCTCATAAGATTCAAGTCTCACTGATAGGGTATATATATCCCTGTGCAAGTGAGAGCCTGTGCACTTACAGAATAGAATCTCATTTGCTGCACAATAGGGTTCTAGGGGAAAATGTCAATCTGGTCATCACAGCTCATAGTTTACTGTCATTTCAAATAGGCTTTATTGATCTCATGGCAATACTTAGTTTCAAGGTGTGGGTGGAATATCAACTCAGGGAAGTGGCTTGTGGATACAGATGTGGATGAGATAGAGAAAG... | TAAATAGGATATATTATTGACAGATGCAAGTAGAGAAAGGGACTTGGCACCTTAAACTTGCCTCATAAGATTCAAGTCTCACTGATAGGGTATATATATCCCTGTGCAAGTGAGAGCCTGTGCACTTACAGAATAGAATCTCATTTGCTGCACAATAGGGTTCTAGGGGAAAATGTCAATCTGGTCATCACAGCTCATAGTTTACTGTCATTTCAAATAGGCTTTATTGATCTCATGGCAATACTTAGTTTCAAGGTGTGGGTGGAATATCAACTCAGGGAAGTGGCTTGTGGATACAGATGTGGATGAGATAGAGAAAG... |
Task1_train_13059 | Here is a mutation in ALG2 (ALG2 alpha-1,3/1,6-mannosyltransferase) on Chromosome 9. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; ALG2-congenital disorder of glycosylation | TTCTGTACTACATGGTAAGCTTTCACAATGCCAAAGAAAATGGAATGCAACAGAACTTTTAATCCCATAAAAGACTCAATATATTTGGCACCCTCATTTTATAGTACTCCTTTTTGGTACAGAATCATTTTGCCAAAATACTCCTGTGATACAGATGCACATGATAAACTGTAAAATGGAATTTCACCCATTGAAGAGCCCCAAAAGAACAATATGGTAGTGCAGCATGAACTAACATGCAATTTCTAATTTTCAATATCCCCAAATTGCAAAATACTAATAGCTAATATATATACTATATGCCAAGTATTAAGTACTTT... | TTCTGTACTACATGGTAAGCTTTCACAATGCCAAAGAAAATGGAATGCAACAGAACTTTTAATCCCATAAAAGACTCAATATATTTGGCACCCTCATTTTATAGTACTCCTTTTTGGTACAGAATCATTTTGCCAAAATACTCCTGTGATACAGATGCACATGATAAACTGTAAAATGGAATTTCACCCATTGAAGAGCCCCAAAAGAACAATATGGTAGTGCAGCATGAACTAACATGCAATTTCTAATTTTCAATATCCCCAAATTGCAAAATACTAATAGCTAATATATATACTATATGCCAAGTATTAAGTACTTT... |
Task1_train_13060 | This alteration occurs within gene ALG2 (ALG2 alpha-1,3/1,6-mannosyltransferase) located on Chromosome 9. Is it associated with a disease or is it a benign variant? | Pathogenic; ALG2-congenital disorder of glycosylation | AAGTAGAATAGTACAATTATCTCACTTTGCAGATGAAGAAGCTGAGGTATAGAGATCAATTTACACAAAATCATATAGGCTGTTAGGCTCTCAAGTCTAGCTCTTAAGAGTTGATAAATGTGGAGCCTTTGGCTAGTAAGCTTTGCTACTTCTGGAAATGAATTTAGCCTTAGAAGTATGTTGAAAACTACTGTTTATGATTTGCTGTTAGACCAACAGGTAAACAGTGAACTATAAGTCAGTGTCACGAAAATATCAGTGTCATGAAAAGGCTAGAGTACATGGAGGGGGAAGATAACTTCTGGCTTGGGAGGTGGCCA... | AAGTAGAATAGTACAATTATCTCACTTTGCAGATGAAGAAGCTGAGGTATAGAGATCAATTTACACAAAATCATATAGGCTGTTAGGCTCTCAAGTCTAGCTCTTAAGAGTTGATAAATGTGGAGCCTTTGGCTAGTAAGCTTTGCTACTTCTGGAAATGAATTTAGCCTTAGAAGTATGTTGAAAACTACTGTTTATGATTTGCTGTTAGACCAACAGGTAAACAGTGAACTATAAGTCAGTGTCACGAAAATATCAGTGTCATGAAAAGGCTAGAGTACATGGAGGGGGAAGATAACTTCTGGCTTGGGAGGTGGCCA... |
Task1_train_13061 | This mutation occurs in ALG2 (ALG2 alpha-1,3/1,6-mannosyltransferase) on Chromosome 9. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Congenital myasthenic syndrome 14 | ACATGCTGGCATTACTACAGACTTTCTTGTTGGGTAATCTTTACAAGTCATTTTAGTCTCAGCTAACTTAAAACCTGAAGAAGGTAACTTTAGGGATAATGTGCAATTTATTCAAAGCCACTTAATTAAAGCAGTAGATACGGAACTTGAATCCAAGATGCCTATTTCCAAGCCAATAATTTTTCCTCTACCCACTATAGTCTCAGCTGCCTCATGTCTACTGACACATGCAGGATGTTTGGTAAATGTCCACGTTACTTAAAAAGAAAGCTTCCATGCAAGCAAGGATGATCAAAAGTAACTCAGGAGTCATAATTAAA... | ACATGCTGGCATTACTACAGACTTTCTTGTTGGGTAATCTTTACAAGTCATTTTAGTCTCAGCTAACTTAAAACCTGAAGAAGGTAACTTTAGGGATAATGTGCAATTTATTCAAAGCCACTTAATTAAAGCAGTAGATACGGAACTTGAATCCAAGATGCCTATTTCCAAGCCAATAATTTTTCCTCTACCCACTATAGTCTCAGCTGCCTCATGTCTACTGACACATGCAGGATGTTTGGTAAATGTCCACGTTACTTAAAAAGAAAGCTTCCATGCAAGCAAGGATGATCAAAAGTAACTCAGGAGTCATAATTAAA... |
Task1_train_13062 | A mutation found in BAAT (bile acid-CoA:amino acid N-acyltransferase) on Chromosome 9 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Bile acid conjugation defect 1 | TTGCATCTACTTGGCTTCTGGGGAGGCCTCAGGAAGTTTACAATCATGGCAGCAGGTGAACAGCGAGGAGGCATCTCACATGGCGAGAGAGGAGGCAAGAAAGAGTGTGAGGATGGGGAGGAGGTGCCACACACTTTTAAACAGTCATATCTCTTGAGAACTCACTCACTATCATACTCTCATGAGGACAGTACCAAGCCATGAGGGTCCACCCCCATGACCCAAACAACTCCCACCAGGCCTCACCTCCAACACTAGGGATTACATTTCAGCATGAAATTTGGGCACAACAAATATCCAAACCATATCATCATCTCTAA... | TTGCATCTACTTGGCTTCTGGGGAGGCCTCAGGAAGTTTACAATCATGGCAGCAGGTGAACAGCGAGGAGGCATCTCACATGGCGAGAGAGGAGGCAAGAAAGAGTGTGAGGATGGGGAGGAGGTGCCACACACTTTTAAACAGTCATATCTCTTGAGAACTCACTCACTATCATACTCTCATGAGGACAGTACCAAGCCATGAGGGTCCACCCCCATGACCCAAACAACTCCCACCAGGCCTCACCTCCAACACTAGGGATTACATTTCAGCATGAAATTTGGGCACAACAAATATCCAAACCATATCATCATCTCTAA... |
Task1_train_13063 | Assess the clinical impact of this variant on gene BAAT (bile acid-CoA:amino acid N-acyltransferase), found on Chromosome 9. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Bile acid conjugation defect 1 | CAAAATAAAGCAGAGCCCACACACTGAAAGAAACTTACGATGCACTTATTAGGGATATTCTATTCTTTTATAAGTGGTTTTAACTAAGACAGAGTGATCCCATCCATATTTGAAAGAAGTGGCTTGATTTAAAGGAGTATTGGGAATTTTTAAAAATTACTATAATTAAGTACAATGAATAAATAATAAATAAAGTGAAGTTGAATATATCTTAGTTTTAAATTATCATTTGCATAAATGAATAAGGATGTTTTTACCATCTGATTGACAAGAATGGGGGAACACTTAAAAGTACTGAGTCTTTTATCTTGGAAGAATGT... | CAAAATAAAGCAGAGCCCACACACTGAAAGAAACTTACGATGCACTTATTAGGGATATTCTATTCTTTTATAAGTGGTTTTAACTAAGACAGAGTGATCCCATCCATATTTGAAAGAAGTGGCTTGATTTAAAGGAGTATTGGGAATTTTTAAAAATTACTATAATTAAGTACAATGAATAAATAATAAATAAAGTGAAGTTGAATATATCTTAGTTTTAAATTATCATTTGCATAAATGAATAAGGATGTTTTTACCATCTGATTGACAAGAATGGGGGAACACTTAAAAGTACTGAGTCTTTTATCTTGGAAGAATGT... |
Task1_train_13064 | Here is a mutation in BAAT (bile acid-CoA:amino acid N-acyltransferase) on Chromosome 9. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Bile acid conjugation defect 1 | TGAAAGAAACTTACGATGCACTTATTAGGGATATTCTATTCTTTTATAAGTGGTTTTAACTAAGACAGAGTGATCCCATCCATATTTGAAAGAAGTGGCTTGATTTAAAGGAGTATTGGGAATTTTTAAAAATTACTATAATTAAGTACAATGAATAAATAATAAATAAAGTGAAGTTGAATATATCTTAGTTTTAAATTATCATTTGCATAAATGAATAAGGATGTTTTTACCATCTGATTGACAAGAATGGGGGAACACTTAAAAGTACTGAGTCTTTTATCTTGGAAGAATGTTACAGTCATGAAATATTTGTGATC... | TGAAAGAAACTTACGATGCACTTATTAGGGATATTCTATTCTTTTATAAGTGGTTTTAACTAAGACAGAGTGATCCCATCCATATTTGAAAGAAGTGGCTTGATTTAAAGGAGTATTGGGAATTTTTAAAAATTACTATAATTAAGTACAATGAATAAATAATAAATAAAGTGAAGTTGAATATATCTTAGTTTTAAATTATCATTTGCATAAATGAATAAGGATGTTTTTACCATCTGATTGACAAGAATGGGGGAACACTTAAAAGTACTGAGTCTTTTATCTTGGAAGAATGTTACAGTCATGAAATATTTGTGATC... |
Task1_train_13065 | The following genetic variant occurs in BAAT (bile acid-CoA:amino acid N-acyltransferase) on Chromosome 9. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Bile acid conjugation defect 1 | CTTATTAGGGATATTCTATTCTTTTATAAGTGGTTTTAACTAAGACAGAGTGATCCCATCCATATTTGAAAGAAGTGGCTTGATTTAAAGGAGTATTGGGAATTTTTAAAAATTACTATAATTAAGTACAATGAATAAATAATAAATAAAGTGAAGTTGAATATATCTTAGTTTTAAATTATCATTTGCATAAATGAATAAGGATGTTTTTACCATCTGATTGACAAGAATGGGGGAACACTTAAAAGTACTGAGTCTTTTATCTTGGAAGAATGTTACAGTCATGAAATATTTGTGATCTGACTCAACCTCCTTATAAC... | CTTATTAGGGATATTCTATTCTTTTATAAGTGGTTTTAACTAAGACAGAGTGATCCCATCCATATTTGAAAGAAGTGGCTTGATTTAAAGGAGTATTGGGAATTTTTAAAAATTACTATAATTAAGTACAATGAATAAATAATAAATAAAGTGAAGTTGAATATATCTTAGTTTTAAATTATCATTTGCATAAATGAATAAGGATGTTTTTACCATCTGATTGACAAGAATGGGGGAACACTTAAAAGTACTGAGTCTTTTATCTTGGAAGAATGTTACAGTCATGAAATATTTGTGATCTGACTCAACCTCCTTATAAC... |
Task1_train_13066 | This mutation is located in gene ALDOB (aldolase, fructose-bisphosphate B) on Chromosome 9. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hereditary fructosuria | TCATGGTTAACTGATAAGAATCTGAGAGGTTTCTTTAGATACCTCTTAAAATATCTAAAGAATTCAGCGATGCTGAGTAGGATCTAGATAAAAACTATCTGGCAGAAAAGCTTTGTCTCACAAGGTGTTACCTACCTGCTTTTAGGACAGCTTGGCACATAGTAGGAGATGAAGTGCTTGATGATTGACTGAAATGTACAAGGAGAAATGTACAAGACTACACCACGGGTGGCAGAGATATTGAACACAGCCTGTCACCTTGCCCTGTAAGATCTCTGGCTGTGTATCCACTTTTTGAGCAAGAGACTTGAGTTCAGAAG... | TCATGGTTAACTGATAAGAATCTGAGAGGTTTCTTTAGATACCTCTTAAAATATCTAAAGAATTCAGCGATGCTGAGTAGGATCTAGATAAAAACTATCTGGCAGAAAAGCTTTGTCTCACAAGGTGTTACCTACCTGCTTTTAGGACAGCTTGGCACATAGTAGGAGATGAAGTGCTTGATGATTGACTGAAATGTACAAGGAGAAATGTACAAGACTACACCACGGGTGGCAGAGATATTGAACACAGCCTGTCACCTTGCCCTGTAAGATCTCTGGCTGTGTATCCACTTTTTGAGCAAGAGACTTGAGTTCAGAAG... |
Task1_train_13067 | Consider a variant on Chromosome 9 in gene ALDOB (aldolase, fructose-bisphosphate B). Determine its clinical classification and disease relevance. | Pathogenic; Hereditary fructosuria | TGATAAACTCAGCTTCCCTTCTTCTGTGTGGATGTCCCTGATGACCTGCGCTTTCACAATCCCTCCATCATGTAAGCTAGGTCTCCTCAGTCCATCAGCCACACAGCAGCACTGCTGCACCCTGCTTTCCACAGTCAAGGTAAAGCACTACTTTGAAAATCTGATACCTCTCTTATGCCTGTGAGATGATGATTTAGCTTCCCTGGGGCCTTCCTTCCCTTTAGGGCCTCATCACCACACTTCTGACTACTCTTGATTCCTTGCCTAGCTTCCTCTATGGTCAGCAAGCTAACAGAGGCTATCGGTAAAATTTGTCACTC... | TGATAAACTCAGCTTCCCTTCTTCTGTGTGGATGTCCCTGATGACCTGCGCTTTCACAATCCCTCCATCATGTAAGCTAGGTCTCCTCAGTCCATCAGCCACACAGCAGCACTGCTGCACCCTGCTTTCCACAGTCAAGGTAAAGCACTACTTTGAAAATCTGATACCTCTCTTATGCCTGTGAGATGATGATTTAGCTTCCCTGGGGCCTTCCTTCCCTTTAGGGCCTCATCACCACACTTCTGACTACTCTTGATTCCTTGCCTAGCTTCCTCTATGGTCAGCAAGCTAACAGAGGCTATCGGTAAAATTTGTCACTC... |
Task1_train_13068 | This alteration in ALDOB (aldolase, fructose-bisphosphate B) on Chromosome 9 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hereditary fructosuria | CATTACCTGATGCTTGGCTATGTCTGGCCATAACGTCCGATCAATTTCCTAGCAAGTTCCTTTAACTGCTTTTCTACGCTTTCCGACTGTCAGTATTGAAATTTCCATTTCTTCATCATTCTCAGCAGATACCCTCAACTGTAATCAGTCATCAACTGCTACATCTCTTGACTTATATAGAGCTGATTCCAACTGTATTCTCTTTTCTGCCTCTTCCCTCCTTTTTGTCTTACACCAGCTGTGCCACCTATGCTTAATATTGAGTCTCATGCAGTCCTGCTCCTCTAAGTTCTTCTCCACTCAATTATCCCCACTCTCCT... | CATTACCTGATGCTTGGCTATGTCTGGCCATAACGTCCGATCAATTTCCTAGCAAGTTCCTTTAACTGCTTTTCTACGCTTTCCGACTGTCAGTATTGAAATTTCCATTTCTTCATCATTCTCAGCAGATACCCTCAACTGTAATCAGTCATCAACTGCTACATCTCTTGACTTATATAGAGCTGATTCCAACTGTATTCTCTTTTCTGCCTCTTCCCTCCTTTTTGTCTTACACCAGCTGTGCCACCTATGCTTAATATTGAGTCTCATGCAGTCCTGCTCCTCTAAGTTCTTCTCCACTCAATTATCCCCACTCTCCT... |
Task1_train_13069 | With a mutation on Chromosome 9 in gene ALDOB (aldolase, fructose-bisphosphate B), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Hereditary fructosuria | TACCAGGAACAGCTGCAGGAACAGTACGGTGGAGAGCTGTTACGGTGGCCATAGCTACTTGTTCTGGAGTATACTTCTTGGTGCAGGCATGTCCAGCAGTCACCATGTTGGGCTTTAGCAGGGTGCCCTCCAGGTAAACATGATGGTCATTCAGGGCCTTGTAGACAGCAGCCAGGACCTGAAGGACAAGAGGTCCCACCAGGTGAAACTCAAAGCTAGTCATAGAGCCACTTGACCTTGGCACATTTACACTGCAGGGAGGCAGGATGAAGGAATTCTTATTTGTTGCTTGGCAAAAGCTTCTGAACCAATCTCCAGGC... | TACCAGGAACAGCTGCAGGAACAGTACGGTGGAGAGCTGTTACGGTGGCCATAGCTACTTGTTCTGGAGTATACTTCTTGGTGCAGGCATGTCCAGCAGTCACCATGTTGGGCTTTAGCAGGGTGCCCTCCAGGTAAACATGATGGTCATTCAGGGCCTTGTAGACAGCAGCCAGGACCTGAAGGACAAGAGGTCCCACCAGGTGAAACTCAAAGCTAGTCATAGAGCCACTTGACCTTGGCACATTTACACTGCAGGGAGGCAGGATGAAGGAATTCTTATTTGTTGCTTGGCAAAAGCTTCTGAACCAATCTCCAGGC... |
Task1_train_13070 | This variant lies on Chromosome 9 and affects the gene ALDOB (aldolase, fructose-bisphosphate B). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; See cases | TACCAGGAACAGCTGCAGGAACAGTACGGTGGAGAGCTGTTACGGTGGCCATAGCTACTTGTTCTGGAGTATACTTCTTGGTGCAGGCATGTCCAGCAGTCACCATGTTGGGCTTTAGCAGGGTGCCCTCCAGGTAAACATGATGGTCATTCAGGGCCTTGTAGACAGCAGCCAGGACCTGAAGGACAAGAGGTCCCACCAGGTGAAACTCAAAGCTAGTCATAGAGCCACTTGACCTTGGCACATTTACACTGCAGGGAGGCAGGATGAAGGAATTCTTATTTGTTGCTTGGCAAAAGCTTCTGAACCAATCTCCAGGC... | TACCAGGAACAGCTGCAGGAACAGTACGGTGGAGAGCTGTTACGGTGGCCATAGCTACTTGTTCTGGAGTATACTTCTTGGTGCAGGCATGTCCAGCAGTCACCATGTTGGGCTTTAGCAGGGTGCCCTCCAGGTAAACATGATGGTCATTCAGGGCCTTGTAGACAGCAGCCAGGACCTGAAGGACAAGAGGTCCCACCAGGTGAAACTCAAAGCTAGTCATAGAGCCACTTGACCTTGGCACATTTACACTGCAGGGAGGCAGGATGAAGGAATTCTTATTTGTTGCTTGGCAAAAGCTTCTGAACCAATCTCCAGGC... |
Task1_train_13071 | Located on Chromosome 9, this mutation impacts ALDOB (aldolase, fructose-bisphosphate B). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Inborn genetic diseases | TACCAGGAACAGCTGCAGGAACAGTACGGTGGAGAGCTGTTACGGTGGCCATAGCTACTTGTTCTGGAGTATACTTCTTGGTGCAGGCATGTCCAGCAGTCACCATGTTGGGCTTTAGCAGGGTGCCCTCCAGGTAAACATGATGGTCATTCAGGGCCTTGTAGACAGCAGCCAGGACCTGAAGGACAAGAGGTCCCACCAGGTGAAACTCAAAGCTAGTCATAGAGCCACTTGACCTTGGCACATTTACACTGCAGGGAGGCAGGATGAAGGAATTCTTATTTGTTGCTTGGCAAAAGCTTCTGAACCAATCTCCAGGC... | TACCAGGAACAGCTGCAGGAACAGTACGGTGGAGAGCTGTTACGGTGGCCATAGCTACTTGTTCTGGAGTATACTTCTTGGTGCAGGCATGTCCAGCAGTCACCATGTTGGGCTTTAGCAGGGTGCCCTCCAGGTAAACATGATGGTCATTCAGGGCCTTGTAGACAGCAGCCAGGACCTGAAGGACAAGAGGTCCCACCAGGTGAAACTCAAAGCTAGTCATAGAGCCACTTGACCTTGGCACATTTACACTGCAGGGAGGCAGGATGAAGGAATTCTTATTTGTTGCTTGGCAAAAGCTTCTGAACCAATCTCCAGGC... |
Task1_train_13072 | This mutation occurs in ALDOB (aldolase, fructose-bisphosphate B) on Chromosome 9. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hereditary fructosuria | CTTGGTGCAGGCATGTCCAGCAGTCACCATGTTGGGCTTTAGCAGGGTGCCCTCCAGGTAAACATGATGGTCATTCAGGGCCTTGTAGACAGCAGCCAGGACCTGAAGGACAAGAGGTCCCACCAGGTGAAACTCAAAGCTAGTCATAGAGCCACTTGACCTTGGCACATTTACACTGCAGGGAGGCAGGATGAAGGAATTCTTATTTGTTGCTTGGCAAAAGCTTCTGAACCAATCTCCAGGCCTCATTAGACCAATGTGTTGCAATCCATAGCCACTGAGCACAACTAAACTGGCCTGTCTTCATCACCCCTAATCTA... | CTTGGTGCAGGCATGTCCAGCAGTCACCATGTTGGGCTTTAGCAGGGTGCCCTCCAGGTAAACATGATGGTCATTCAGGGCCTTGTAGACAGCAGCCAGGACCTGAAGGACAAGAGGTCCCACCAGGTGAAACTCAAAGCTAGTCATAGAGCCACTTGACCTTGGCACATTTACACTGCAGGGAGGCAGGATGAAGGAATTCTTATTTGTTGCTTGGCAAAAGCTTCTGAACCAATCTCCAGGCCTCATTAGACCAATGTGTTGCAATCCATAGCCACTGAGCACAACTAAACTGGCCTGTCTTCATCACCCCTAATCTA... |
Task1_train_13073 | With a mutation on Chromosome 9 in gene ALDOB (aldolase, fructose-bisphosphate B), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; See cases | CTTGGTGCAGGCATGTCCAGCAGTCACCATGTTGGGCTTTAGCAGGGTGCCCTCCAGGTAAACATGATGGTCATTCAGGGCCTTGTAGACAGCAGCCAGGACCTGAAGGACAAGAGGTCCCACCAGGTGAAACTCAAAGCTAGTCATAGAGCCACTTGACCTTGGCACATTTACACTGCAGGGAGGCAGGATGAAGGAATTCTTATTTGTTGCTTGGCAAAAGCTTCTGAACCAATCTCCAGGCCTCATTAGACCAATGTGTTGCAATCCATAGCCACTGAGCACAACTAAACTGGCCTGTCTTCATCACCCCTAATCTA... | CTTGGTGCAGGCATGTCCAGCAGTCACCATGTTGGGCTTTAGCAGGGTGCCCTCCAGGTAAACATGATGGTCATTCAGGGCCTTGTAGACAGCAGCCAGGACCTGAAGGACAAGAGGTCCCACCAGGTGAAACTCAAAGCTAGTCATAGAGCCACTTGACCTTGGCACATTTACACTGCAGGGAGGCAGGATGAAGGAATTCTTATTTGTTGCTTGGCAAAAGCTTCTGAACCAATCTCCAGGCCTCATTAGACCAATGTGTTGCAATCCATAGCCACTGAGCACAACTAAACTGGCCTGTCTTCATCACCCCTAATCTA... |
Task1_train_13074 | A genomic change on Chromosome 9 affects ALDOB (aldolase, fructose-bisphosphate B). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Inborn genetic diseases | CTTGGTGCAGGCATGTCCAGCAGTCACCATGTTGGGCTTTAGCAGGGTGCCCTCCAGGTAAACATGATGGTCATTCAGGGCCTTGTAGACAGCAGCCAGGACCTGAAGGACAAGAGGTCCCACCAGGTGAAACTCAAAGCTAGTCATAGAGCCACTTGACCTTGGCACATTTACACTGCAGGGAGGCAGGATGAAGGAATTCTTATTTGTTGCTTGGCAAAAGCTTCTGAACCAATCTCCAGGCCTCATTAGACCAATGTGTTGCAATCCATAGCCACTGAGCACAACTAAACTGGCCTGTCTTCATCACCCCTAATCTA... | CTTGGTGCAGGCATGTCCAGCAGTCACCATGTTGGGCTTTAGCAGGGTGCCCTCCAGGTAAACATGATGGTCATTCAGGGCCTTGTAGACAGCAGCCAGGACCTGAAGGACAAGAGGTCCCACCAGGTGAAACTCAAAGCTAGTCATAGAGCCACTTGACCTTGGCACATTTACACTGCAGGGAGGCAGGATGAAGGAATTCTTATTTGTTGCTTGGCAAAAGCTTCTGAACCAATCTCCAGGCCTCATTAGACCAATGTGTTGCAATCCATAGCCACTGAGCACAACTAAACTGGCCTGTCTTCATCACCCCTAATCTA... |
Task1_train_13075 | A mutation found in ALDOB (aldolase, fructose-bisphosphate B) on Chromosome 9 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Hereditary fructosuria | GGTGCCCTCCAGGTAAACATGATGGTCATTCAGGGCCTTGTAGACAGCAGCCAGGACCTGAAGGACAAGAGGTCCCACCAGGTGAAACTCAAAGCTAGTCATAGAGCCACTTGACCTTGGCACATTTACACTGCAGGGAGGCAGGATGAAGGAATTCTTATTTGTTGCTTGGCAAAAGCTTCTGAACCAATCTCCAGGCCTCATTAGACCAATGTGTTGCAATCCATAGCCACTGAGCACAACTAAACTGGCCTGTCTTCATCACCCCTAATCTAGCTTCTCATTCACTGCATGAATGACAGGCATGGCTCTGCTTCCTA... | GGTGCCCTCCAGGTAAACATGATGGTCATTCAGGGCCTTGTAGACAGCAGCCAGGACCTGAAGGACAAGAGGTCCCACCAGGTGAAACTCAAAGCTAGTCATAGAGCCACTTGACCTTGGCACATTTACACTGCAGGGAGGCAGGATGAAGGAATTCTTATTTGTTGCTTGGCAAAAGCTTCTGAACCAATCTCCAGGCCTCATTAGACCAATGTGTTGCAATCCATAGCCACTGAGCACAACTAAACTGGCCTGTCTTCATCACCCCTAATCTAGCTTCTCATTCACTGCATGAATGACAGGCATGGCTCTGCTTCCTA... |
Task1_train_13076 | This sequence variant lies in NIPSNAP3B, ABCA1 (nipsnap homolog 3B| ATP binding cassette subfamily A member 1) on Chromosome 9. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Tangier disease | CCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCAAAAACTGACTTTCTATATCGCCCCCCACCCCTACATCACCAACTGCTCAGTCATCCATTTACTTTGGCACATACGGTCTTGATTAAAGGGAAGAGGGAAGAAAATATTTACTGAGTACTTCTTAAGTGTCAGGACCTATTTGGTACTTTTTTATCTAATTTAAATAGGATTAGGCACCAAGTAAAATGCCTGGCCCATGGTAGGTGCTCACTAAATGGTAGTTTTTATGGTTATTATTACAGTAAATTCTCACAATAATCCTATAGA... | CCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCAAAAACTGACTTTCTATATCGCCCCCCACCCCTACATCACCAACTGCTCAGTCATCCATTTACTTTGGCACATACGGTCTTGATTAAAGGGAAGAGGGAAGAAAATATTTACTGAGTACTTCTTAAGTGTCAGGACCTATTTGGTACTTTTTTATCTAATTTAAATAGGATTAGGCACCAAGTAAAATGCCTGGCCCATGGTAGGTGCTCACTAAATGGTAGTTTTTATGGTTATTATTACAGTAAATTCTCACAATAATCCTATAGA... |
Task1_train_13077 | Here is a mutation in ABCA1, NIPSNAP3B (ATP binding cassette subfamily A member 1| nipsnap homolog 3B) on Chromosome 9. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Hypoalphalipoproteinemia, primary, 1 | TAGAGAGATTCTCTGTAACCATGAGAACATCACCATGACTTCCAGCATTCCAGCTTCCTAGGGAATTGTATTCTGTTACAAGTACATGTGGATATAGGGATGATGCTGTTCAGTGTAGTGGTGTTTACAATTGTGAACAAGTTGGAAATAATCCAAATGTCTACAAAAGGGGGAATAGTTAAATAAGAGTATATCCTAATGGAATACTATCCAGCTATAAGAAATGACACCTAAATGCACTGACTTGGAATAATGTTTACAATATATTAAGTGAAAAAGAGCAGTATTTATACTGGGCTTGCATTTTTGTAAGAATATGC... | TAGAGAGATTCTCTGTAACCATGAGAACATCACCATGACTTCCAGCATTCCAGCTTCCTAGGGAATTGTATTCTGTTACAAGTACATGTGGATATAGGGATGATGCTGTTCAGTGTAGTGGTGTTTACAATTGTGAACAAGTTGGAAATAATCCAAATGTCTACAAAAGGGGGAATAGTTAAATAAGAGTATATCCTAATGGAATACTATCCAGCTATAAGAAATGACACCTAAATGCACTGACTTGGAATAATGTTTACAATATATTAAGTGAAAAAGAGCAGTATTTATACTGGGCTTGCATTTTTGTAAGAATATGC... |
Task1_train_13078 | This variant impacts the gene ABCA1 (ATP binding cassette subfamily A member 1) on Chromosome 9. Is the change likely to result in a pathogenic outcome? | Pathogenic; Tangier disease, variant | CCCTAAATCAAATATACAATGCATCACACAAGTTTTCACCATTATCAGACAAGAAAGGGCAGATAAACATATTGGAGAGTAACTCTGAATTAATGAAGCCACATAAACTATTAATCAAAATACCCGACAATACATTTTGACAAGCATTTTCCCCTTGGCTGATTTTATAAACTACATGCCCTTTCTGTCTTTCCAACAGTCAAGCCAAGGTGTCACACTCAGTAAACTTACTGAACGATGGATTCCCAGTCAGAGTAATTTTAATTTCACAGGCAGCAAATAAGCCTCTATTCTTCTTCCCGAAGATGACTGTGTCTGTT... | CCCTAAATCAAATATACAATGCATCACACAAGTTTTCACCATTATCAGACAAGAAAGGGCAGATAAACATATTGGAGAGTAACTCTGAATTAATGAAGCCACATAAACTATTAATCAAAATACCCGACAATACATTTTGACAAGCATTTTCCCCTTGGCTGATTTTATAAACTACATGCCCTTTCTGTCTTTCCAACAGTCAAGCCAAGGTGTCACACTCAGTAAACTTACTGAACGATGGATTCCCAGTCAGAGTAATTTTAATTTCACAGGCAGCAAATAAGCCTCTATTCTTCTTCCCGAAGATGACTGTGTCTGTT... |
Task1_train_13079 | The following genetic variant occurs in ABCA1 (ATP binding cassette subfamily A member 1) on Chromosome 9. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Tangier disease | GGGTCCTGGCCCTTGGGGAAAAGGCAGAGAGAAAAGACGGAAATCAGTAACAAGGAGCCTTCGGGCCCCCTGACGTAGCCACATCACCTATCTCATTTTCCATGATGGACAAACTGGCTTCAAGAACTCTTCTGTCCCCAGTCCCACCTGTTCCTTCAAAACCCAGAAGGACAAATGGGTTGAAATACAGTGCAAAGAGATGGTTTTGGCGCTTCTTATTTCCTCTAAGACCTTTTTAGTCCCGTGCTAAATGCCTAGAAATTGTCCTTGAGTCCTTAAGAAGCCTCGGGAATCTGGTTTGGGGGGAAAGTACAAGTAGG... | GGGTCCTGGCCCTTGGGGAAAAGGCAGAGAGAAAAGACGGAAATCAGTAACAAGGAGCCTTCGGGCCCCCTGACGTAGCCACATCACCTATCTCATTTTCCATGATGGACAAACTGGCTTCAAGAACTCTTCTGTCCCCAGTCCCACCTGTTCCTTCAAAACCCAGAAGGACAAATGGGTTGAAATACAGTGCAAAGAGATGGTTTTGGCGCTTCTTATTTCCTCTAAGACCTTTTTAGTCCCGTGCTAAATGCCTAGAAATTGTCCTTGAGTCCTTAAGAAGCCTCGGGAATCTGGTTTGGGGGGAAAGTACAAGTAGG... |
Task1_train_13080 | A mutation on Chromosome 9 affecting ABCA1 (ATP binding cassette subfamily A member 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Tangier disease | CCCCATCAGAGAGTACCCAAGGCACTCTATGTACACCATTTAATTTAGTCCTCATGACAAACTTATAAGAGCAACATTAATATCACAATTTAGATAAACTAAGGCTTTAAAAGGATAACCAGTTACCTGGTCAAGTTGCTACTAAGTGGCAAAATTTGACGTTGAATCCATTTCTATTTTCATTCTAGACCAGGCTGCCTCAGCCTTGAAGCTGACAACTGAATGTTCACAGTCCCTCTCGTCATCTTTTCTAGTTTGGGATAATATCCTAAACTTCCAATAGACAGAATCAGGCCATAATCTGGCATTTCCCCCACTGT... | CCCCATCAGAGAGTACCCAAGGCACTCTATGTACACCATTTAATTTAGTCCTCATGACAAACTTATAAGAGCAACATTAATATCACAATTTAGATAAACTAAGGCTTTAAAAGGATAACCAGTTACCTGGTCAAGTTGCTACTAAGTGGCAAAATTTGACGTTGAATCCATTTCTATTTTCATTCTAGACCAGGCTGCCTCAGCCTTGAAGCTGACAACTGAATGTTCACAGTCCCTCTCGTCATCTTTTCTAGTTTGGGATAATATCCTAAACTTCCAATAGACAGAATCAGGCCATAATCTGGCATTTCCCCCACTGT... |
Task1_train_13081 | This alteration occurs within gene ABCA1 (ATP binding cassette subfamily A member 1) located on Chromosome 9. Is it associated with a disease or is it a benign variant? | Pathogenic; ABCA1-related disorder | CCCCATCAGAGAGTACCCAAGGCACTCTATGTACACCATTTAATTTAGTCCTCATGACAAACTTATAAGAGCAACATTAATATCACAATTTAGATAAACTAAGGCTTTAAAAGGATAACCAGTTACCTGGTCAAGTTGCTACTAAGTGGCAAAATTTGACGTTGAATCCATTTCTATTTTCATTCTAGACCAGGCTGCCTCAGCCTTGAAGCTGACAACTGAATGTTCACAGTCCCTCTCGTCATCTTTTCTAGTTTGGGATAATATCCTAAACTTCCAATAGACAGAATCAGGCCATAATCTGGCATTTCCCCCACTGT... | CCCCATCAGAGAGTACCCAAGGCACTCTATGTACACCATTTAATTTAGTCCTCATGACAAACTTATAAGAGCAACATTAATATCACAATTTAGATAAACTAAGGCTTTAAAAGGATAACCAGTTACCTGGTCAAGTTGCTACTAAGTGGCAAAATTTGACGTTGAATCCATTTCTATTTTCATTCTAGACCAGGCTGCCTCAGCCTTGAAGCTGACAACTGAATGTTCACAGTCCCTCTCGTCATCTTTTCTAGTTTGGGATAATATCCTAAACTTCCAATAGACAGAATCAGGCCATAATCTGGCATTTCCCCCACTGT... |
Task1_train_13082 | Consider this mutation in ABCA1 (ATP binding cassette subfamily A member 1) on Chromosome 9. Is this a benign change or a disease-causing variant? | Pathogenic; Tangier disease | AAGCGGGGAGGACCCTGCACATGAGCCCCATGTGTTCACTTTAGATGAGGAGGGAGCACATGAGCCCCAGCTGTTCACTTTAGATAAGAAGAAACATAAGGGAAAAGCCTTGCCCAAGATTGCAGAGCTCAGGTCTCTCTCTGCTCCATCACACGGGCTCCCTGGGGGCCTTATGGCTGATGGGACAACCTGAGTGGGAGCAAATGTCTTAAGCAGCAAATATAGGTCCATCATACCAGGGCCCTGAAGCACTACCAGGTCTGGGAAGTCTGCTCCAGGCCTCAATAAGGAGGGTGGCGGGGGAGAGGATGGGCTAAAGG... | AAGCGGGGAGGACCCTGCACATGAGCCCCATGTGTTCACTTTAGATGAGGAGGGAGCACATGAGCCCCAGCTGTTCACTTTAGATAAGAAGAAACATAAGGGAAAAGCCTTGCCCAAGATTGCAGAGCTCAGGTCTCTCTCTGCTCCATCACACGGGCTCCCTGGGGGCCTTATGGCTGATGGGACAACCTGAGTGGGAGCAAATGTCTTAAGCAGCAAATATAGGTCCATCATACCAGGGCCCTGAAGCACTACCAGGTCTGGGAAGTCTGCTCCAGGCCTCAATAAGGAGGGTGGCGGGGGAGAGGATGGGCTAAAGG... |
Task1_train_13083 | This genomic variant is located on Chromosome 9, within the ABCA1 (ATP binding cassette subfamily A member 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not provided | GGAGGACCCTGCACATGAGCCCCATGTGTTCACTTTAGATGAGGAGGGAGCACATGAGCCCCAGCTGTTCACTTTAGATAAGAAGAAACATAAGGGAAAAGCCTTGCCCAAGATTGCAGAGCTCAGGTCTCTCTCTGCTCCATCACACGGGCTCCCTGGGGGCCTTATGGCTGATGGGACAACCTGAGTGGGAGCAAATGTCTTAAGCAGCAAATATAGGTCCATCATACCAGGGCCCTGAAGCACTACCAGGTCTGGGAAGTCTGCTCCAGGCCTCAATAAGGAGGGTGGCGGGGGAGAGGATGGGCTAAAGGGCCCTC... | GGAGGACCCTGCACATGAGCCCCATGTGTTCACTTTAGATGAGGAGGGAGCACATGAGCCCCAGCTGTTCACTTTAGATAAGAAGAAACATAAGGGAAAAGCCTTGCCCAAGATTGCAGAGCTCAGGTCTCTCTCTGCTCCATCACACGGGCTCCCTGGGGGCCTTATGGCTGATGGGACAACCTGAGTGGGAGCAAATGTCTTAAGCAGCAAATATAGGTCCATCATACCAGGGCCCTGAAGCACTACCAGGTCTGGGAAGTCTGCTCCAGGCCTCAATAAGGAGGGTGGCGGGGGAGAGGATGGGCTAAAGGGCCCTC... |
Task1_train_13084 | Here is a mutation in ABCA1 (ATP binding cassette subfamily A member 1) on Chromosome 9. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Tangier disease | GAGGACCCTGCACATGAGCCCCATGTGTTCACTTTAGATGAGGAGGGAGCACATGAGCCCCAGCTGTTCACTTTAGATAAGAAGAAACATAAGGGAAAAGCCTTGCCCAAGATTGCAGAGCTCAGGTCTCTCTCTGCTCCATCACACGGGCTCCCTGGGGGCCTTATGGCTGATGGGACAACCTGAGTGGGAGCAAATGTCTTAAGCAGCAAATATAGGTCCATCATACCAGGGCCCTGAAGCACTACCAGGTCTGGGAAGTCTGCTCCAGGCCTCAATAAGGAGGGTGGCGGGGGAGAGGATGGGCTAAAGGGCCCTCC... | GAGGACCCTGCACATGAGCCCCATGTGTTCACTTTAGATGAGGAGGGAGCACATGAGCCCCAGCTGTTCACTTTAGATAAGAAGAAACATAAGGGAAAAGCCTTGCCCAAGATTGCAGAGCTCAGGTCTCTCTCTGCTCCATCACACGGGCTCCCTGGGGGCCTTATGGCTGATGGGACAACCTGAGTGGGAGCAAATGTCTTAAGCAGCAAATATAGGTCCATCATACCAGGGCCCTGAAGCACTACCAGGTCTGGGAAGTCTGCTCCAGGCCTCAATAAGGAGGGTGGCGGGGGAGAGGATGGGCTAAAGGGCCCTCC... |
Task1_train_13085 | A variant affecting Chromosome 9, within the gene ABCA1 (ATP binding cassette subfamily A member 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Tangier disease | GCTAAACCAGAGGATGCTGTTGTCCAGGCCCATGATCCGCATGGTCTCTTTCAGCCGTGCCTCCTTCTCATACACGATGCCCTTGATGATCACAGCCACTGAGTAAATCCAGGCCAGCGTCATGAAGAGGGGCATTGACCGGCTCATCACCCGCAGAAAGCTGGAGGCCCCAAGGAAGGACAAGGGGAGAAAGAAAGACACACGTGAGCCAGGGTGATGGGCCAAGGCCTCTGAGCCTGCATGCTAGAGGGAGCACCACATCTGGGCCACAGAAGGACAGGCCCTCTAGACTCTGAAATGTACGTATGATCCAATGCTTC... | GCTAAACCAGAGGATGCTGTTGTCCAGGCCCATGATCCGCATGGTCTCTTTCAGCCGTGCCTCCTTCTCATACACGATGCCCTTGATGATCACAGCCACTGAGTAAATCCAGGCCAGCGTCATGAAGAGGGGCATTGACCGGCTCATCACCCGCAGAAAGCTGGAGGCCCCAAGGAAGGACAAGGGGAGAAAGAAAGACACACGTGAGCCAGGGTGATGGGCCAAGGCCTCTGAGCCTGCATGCTAGAGGGAGCACCACATCTGGGCCACAGAAGGACAGGCCCTCTAGACTCTGAAATGTACGTATGATCCAATGCTTC... |
Task1_train_13086 | A variant found in Chromosome 9 affects ABCA1 (ATP binding cassette subfamily A member 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; ABCA1-related disorder | ATGATCCGCATGGTCTCTTTCAGCCGTGCCTCCTTCTCATACACGATGCCCTTGATGATCACAGCCACTGAGTAAATCCAGGCCAGCGTCATGAAGAGGGGCATTGACCGGCTCATCACCCGCAGAAAGCTGGAGGCCCCAAGGAAGGACAAGGGGAGAAAGAAAGACACACGTGAGCCAGGGTGATGGGCCAAGGCCTCTGAGCCTGCATGCTAGAGGGAGCACCACATCTGGGCCACAGAAGGACAGGCCCTCTAGACTCTGAAATGTACGTATGATCCAATGCTTCACGAGCAATGCAATGTAGAGAGAAAAACGAG... | ATGATCCGCATGGTCTCTTTCAGCCGTGCCTCCTTCTCATACACGATGCCCTTGATGATCACAGCCACTGAGTAAATCCAGGCCAGCGTCATGAAGAGGGGCATTGACCGGCTCATCACCCGCAGAAAGCTGGAGGCCCCAAGGAAGGACAAGGGGAGAAAGAAAGACACACGTGAGCCAGGGTGATGGGCCAAGGCCTCTGAGCCTGCATGCTAGAGGGAGCACCACATCTGGGCCACAGAAGGACAGGCCCTCTAGACTCTGAAATGTACGTATGATCCAATGCTTCACGAGCAATGCAATGTAGAGAGAAAAACGAG... |
Task1_train_13087 | A mutation in FKTN (fukutin), located on Chromosome 9, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Dilated cardiomyopathy 1X | GGACTCTAAATGCCAGTTTGTCATTATGATAAACCAAAAATATCCCCCCAAATTTCTGAAGTATCTGTTGGGTACAGTCCCACTTGCCTTGAGAACCACTATTTTAGAAGAAGGGGAGTATGCCACCATTGGCAAAACTGATACTACCATAGTCAAGAGGAAGAAGCAAAAGCTCAGCCATACCCAGAATCAGCACATGGGTTCAAGTTTATTCTTCGTTTGTTTTTGTTTGTTTGTGTTGGGTTTTTTGTTTTTGTTTTTGTTTTTTGAGACGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCT... | GGACTCTAAATGCCAGTTTGTCATTATGATAAACCAAAAATATCCCCCCAAATTTCTGAAGTATCTGTTGGGTACAGTCCCACTTGCCTTGAGAACCACTATTTTAGAAGAAGGGGAGTATGCCACCATTGGCAAAACTGATACTACCATAGTCAAGAGGAAGAAGCAAAAGCTCAGCCATACCCAGAATCAGCACATGGGTTCAAGTTTATTCTTCGTTTGTTTTTGTTTGTTTGTGTTGGGTTTTTTGTTTTTGTTTTTGTTTTTTGAGACGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCT... |
Task1_train_13088 | A variant has been detected on Chromosome 9 in FKTN (fukutin). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Walker-Warburg congenital muscular dystrophy | GGACTCTAAATGCCAGTTTGTCATTATGATAAACCAAAAATATCCCCCCAAATTTCTGAAGTATCTGTTGGGTACAGTCCCACTTGCCTTGAGAACCACTATTTTAGAAGAAGGGGAGTATGCCACCATTGGCAAAACTGATACTACCATAGTCAAGAGGAAGAAGCAAAAGCTCAGCCATACCCAGAATCAGCACATGGGTTCAAGTTTATTCTTCGTTTGTTTTTGTTTGTTTGTGTTGGGTTTTTTGTTTTTGTTTTTGTTTTTTGAGACGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCT... | GGACTCTAAATGCCAGTTTGTCATTATGATAAACCAAAAATATCCCCCCAAATTTCTGAAGTATCTGTTGGGTACAGTCCCACTTGCCTTGAGAACCACTATTTTAGAAGAAGGGGAGTATGCCACCATTGGCAAAACTGATACTACCATAGTCAAGAGGAAGAAGCAAAAGCTCAGCCATACCCAGAATCAGCACATGGGTTCAAGTTTATTCTTCGTTTGTTTTTGTTTGTTTGTGTTGGGTTTTTTGTTTTTGTTTTTGTTTTTTGAGACGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCT... |
Task1_train_13089 | A change on Chromosome 9 affects gene FKTN (fukutin). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | TGTCATTATGATAAACCAAAAATATCCCCCCAAATTTCTGAAGTATCTGTTGGGTACAGTCCCACTTGCCTTGAGAACCACTATTTTAGAAGAAGGGGAGTATGCCACCATTGGCAAAACTGATACTACCATAGTCAAGAGGAAGAAGCAAAAGCTCAGCCATACCCAGAATCAGCACATGGGTTCAAGTTTATTCTTCGTTTGTTTTTGTTTGTTTGTGTTGGGTTTTTTGTTTTTGTTTTTGTTTTTTGAGACGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCTGTTCACTGCAATCTCCGC... | TGTCATTATGATAAACCAAAAATATCCCCCCAAATTTCTGAAGTATCTGTTGGGTACAGTCCCACTTGCCTTGAGAACCACTATTTTAGAAGAAGGGGAGTATGCCACCATTGGCAAAACTGATACTACCATAGTCAAGAGGAAGAAGCAAAAGCTCAGCCATACCCAGAATCAGCACATGGGTTCAAGTTTATTCTTCGTTTGTTTTTGTTTGTTTGTGTTGGGTTTTTTGTTTTTGTTTTTGTTTTTTGAGACGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCTGTTCACTGCAATCTCCGC... |
Task1_train_13090 | This variant impacts the gene FKTN (fukutin) on Chromosome 9. Is the change likely to result in a pathogenic outcome? | Pathogenic; Walker-Warburg congenital muscular dystrophy | TCACTGTTATTCTTCTTACGATGGTGTGAGATGATAAAATGCCTACATGATGAGATGAAGGGAGATGAAGGATGTAGGCATTGTGATGTAGTGTTAGTCTACTATTGAAAATTTCCTGGGAAAATCAAGGAATGTGTCACAGAGGCTAAATCTGAGCCCTGAAAGATTTGATTTAACACTTCTGAATTGTTTATTTCTGGAATTTACCATTTAATATCTTCAGATCGTGGTTGTCCACAGGTAACTGAAACTGCTAAAAGCAAAACCACGGATATGGCAGGACTACTATAGTTGATTCTCAGATAATCCTTAAATTAGCA... | TCACTGTTATTCTTCTTACGATGGTGTGAGATGATAAAATGCCTACATGATGAGATGAAGGGAGATGAAGGATGTAGGCATTGTGATGTAGTGTTAGTCTACTATTGAAAATTTCCTGGGAAAATCAAGGAATGTGTCACAGAGGCTAAATCTGAGCCCTGAAAGATTTGATTTAACACTTCTGAATTGTTTATTTCTGGAATTTACCATTTAATATCTTCAGATCGTGGTTGTCCACAGGTAACTGAAACTGCTAAAAGCAAAACCACGGATATGGCAGGACTACTATAGTTGATTCTCAGATAATCCTTAAATTAGCA... |
Task1_train_13091 | Mutation context: Chromosome 9, Gene FKTN (fukutin). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Cardiovascular phenotype | TCACTGTTATTCTTCTTACGATGGTGTGAGATGATAAAATGCCTACATGATGAGATGAAGGGAGATGAAGGATGTAGGCATTGTGATGTAGTGTTAGTCTACTATTGAAAATTTCCTGGGAAAATCAAGGAATGTGTCACAGAGGCTAAATCTGAGCCCTGAAAGATTTGATTTAACACTTCTGAATTGTTTATTTCTGGAATTTACCATTTAATATCTTCAGATCGTGGTTGTCCACAGGTAACTGAAACTGCTAAAAGCAAAACCACGGATATGGCAGGACTACTATAGTTGATTCTCAGATAATCCTTAAATTAGCA... | TCACTGTTATTCTTCTTACGATGGTGTGAGATGATAAAATGCCTACATGATGAGATGAAGGGAGATGAAGGATGTAGGCATTGTGATGTAGTGTTAGTCTACTATTGAAAATTTCCTGGGAAAATCAAGGAATGTGTCACAGAGGCTAAATCTGAGCCCTGAAAGATTTGATTTAACACTTCTGAATTGTTTATTTCTGGAATTTACCATTTAATATCTTCAGATCGTGGTTGTCCACAGGTAACTGAAACTGCTAAAAGCAAAACCACGGATATGGCAGGACTACTATAGTTGATTCTCAGATAATCCTTAAATTAGCA... |
Task1_train_13092 | The variant affects gene FKTN (fukutin), which is on Chromosome 9. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 | TCACTGTTATTCTTCTTACGATGGTGTGAGATGATAAAATGCCTACATGATGAGATGAAGGGAGATGAAGGATGTAGGCATTGTGATGTAGTGTTAGTCTACTATTGAAAATTTCCTGGGAAAATCAAGGAATGTGTCACAGAGGCTAAATCTGAGCCCTGAAAGATTTGATTTAACACTTCTGAATTGTTTATTTCTGGAATTTACCATTTAATATCTTCAGATCGTGGTTGTCCACAGGTAACTGAAACTGCTAAAAGCAAAACCACGGATATGGCAGGACTACTATAGTTGATTCTCAGATAATCCTTAAATTAGCA... | TCACTGTTATTCTTCTTACGATGGTGTGAGATGATAAAATGCCTACATGATGAGATGAAGGGAGATGAAGGATGTAGGCATTGTGATGTAGTGTTAGTCTACTATTGAAAATTTCCTGGGAAAATCAAGGAATGTGTCACAGAGGCTAAATCTGAGCCCTGAAAGATTTGATTTAACACTTCTGAATTGTTTATTTCTGGAATTTACCATTTAATATCTTCAGATCGTGGTTGTCCACAGGTAACTGAAACTGCTAAAAGCAAAACCACGGATATGGCAGGACTACTATAGTTGATTCTCAGATAATCCTTAAATTAGCA... |
Task1_train_13093 | A mutation found in FKTN (fukutin) on Chromosome 9 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2M | TCACTGTTATTCTTCTTACGATGGTGTGAGATGATAAAATGCCTACATGATGAGATGAAGGGAGATGAAGGATGTAGGCATTGTGATGTAGTGTTAGTCTACTATTGAAAATTTCCTGGGAAAATCAAGGAATGTGTCACAGAGGCTAAATCTGAGCCCTGAAAGATTTGATTTAACACTTCTGAATTGTTTATTTCTGGAATTTACCATTTAATATCTTCAGATCGTGGTTGTCCACAGGTAACTGAAACTGCTAAAAGCAAAACCACGGATATGGCAGGACTACTATAGTTGATTCTCAGATAATCCTTAAATTAGCA... | TCACTGTTATTCTTCTTACGATGGTGTGAGATGATAAAATGCCTACATGATGAGATGAAGGGAGATGAAGGATGTAGGCATTGTGATGTAGTGTTAGTCTACTATTGAAAATTTCCTGGGAAAATCAAGGAATGTGTCACAGAGGCTAAATCTGAGCCCTGAAAGATTTGATTTAACACTTCTGAATTGTTTATTTCTGGAATTTACCATTTAATATCTTCAGATCGTGGTTGTCCACAGGTAACTGAAACTGCTAAAAGCAAAACCACGGATATGGCAGGACTACTATAGTTGATTCTCAGATAATCCTTAAATTAGCA... |
Task1_train_13094 | The variant affects gene FKTN (fukutin), which is on Chromosome 9. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Dilated cardiomyopathy 1X | TCACTGTTATTCTTCTTACGATGGTGTGAGATGATAAAATGCCTACATGATGAGATGAAGGGAGATGAAGGATGTAGGCATTGTGATGTAGTGTTAGTCTACTATTGAAAATTTCCTGGGAAAATCAAGGAATGTGTCACAGAGGCTAAATCTGAGCCCTGAAAGATTTGATTTAACACTTCTGAATTGTTTATTTCTGGAATTTACCATTTAATATCTTCAGATCGTGGTTGTCCACAGGTAACTGAAACTGCTAAAAGCAAAACCACGGATATGGCAGGACTACTATAGTTGATTCTCAGATAATCCTTAAATTAGCA... | TCACTGTTATTCTTCTTACGATGGTGTGAGATGATAAAATGCCTACATGATGAGATGAAGGGAGATGAAGGATGTAGGCATTGTGATGTAGTGTTAGTCTACTATTGAAAATTTCCTGGGAAAATCAAGGAATGTGTCACAGAGGCTAAATCTGAGCCCTGAAAGATTTGATTTAACACTTCTGAATTGTTTATTTCTGGAATTTACCATTTAATATCTTCAGATCGTGGTTGTCCACAGGTAACTGAAACTGCTAAAAGCAAAACCACGGATATGGCAGGACTACTATAGTTGATTCTCAGATAATCCTTAAATTAGCA... |
Task1_train_13095 | A mutation on Chromosome 9 affecting FKTN (fukutin) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | TCACTGTTATTCTTCTTACGATGGTGTGAGATGATAAAATGCCTACATGATGAGATGAAGGGAGATGAAGGATGTAGGCATTGTGATGTAGTGTTAGTCTACTATTGAAAATTTCCTGGGAAAATCAAGGAATGTGTCACAGAGGCTAAATCTGAGCCCTGAAAGATTTGATTTAACACTTCTGAATTGTTTATTTCTGGAATTTACCATTTAATATCTTCAGATCGTGGTTGTCCACAGGTAACTGAAACTGCTAAAAGCAAAACCACGGATATGGCAGGACTACTATAGTTGATTCTCAGATAATCCTTAAATTAGCA... | TCACTGTTATTCTTCTTACGATGGTGTGAGATGATAAAATGCCTACATGATGAGATGAAGGGAGATGAAGGATGTAGGCATTGTGATGTAGTGTTAGTCTACTATTGAAAATTTCCTGGGAAAATCAAGGAATGTGTCACAGAGGCTAAATCTGAGCCCTGAAAGATTTGATTTAACACTTCTGAATTGTTTATTTCTGGAATTTACCATTTAATATCTTCAGATCGTGGTTGTCCACAGGTAACTGAAACTGCTAAAAGCAAAACCACGGATATGGCAGGACTACTATAGTTGATTCTCAGATAATCCTTAAATTAGCA... |
Task1_train_13096 | A change on Chromosome 9 affects gene FKTN (fukutin). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | TCACTGTTATTCTTCTTACGATGGTGTGAGATGATAAAATGCCTACATGATGAGATGAAGGGAGATGAAGGATGTAGGCATTGTGATGTAGTGTTAGTCTACTATTGAAAATTTCCTGGGAAAATCAAGGAATGTGTCACAGAGGCTAAATCTGAGCCCTGAAAGATTTGATTTAACACTTCTGAATTGTTTATTTCTGGAATTTACCATTTAATATCTTCAGATCGTGGTTGTCCACAGGTAACTGAAACTGCTAAAAGCAAAACCACGGATATGGCAGGACTACTATAGTTGATTCTCAGATAATCCTTAAATTAGCA... | TCACTGTTATTCTTCTTACGATGGTGTGAGATGATAAAATGCCTACATGATGAGATGAAGGGAGATGAAGGATGTAGGCATTGTGATGTAGTGTTAGTCTACTATTGAAAATTTCCTGGGAAAATCAAGGAATGTGTCACAGAGGCTAAATCTGAGCCCTGAAAGATTTGATTTAACACTTCTGAATTGTTTATTTCTGGAATTTACCATTTAATATCTTCAGATCGTGGTTGTCCACAGGTAACTGAAACTGCTAAAAGCAAAACCACGGATATGGCAGGACTACTATAGTTGATTCTCAGATAATCCTTAAATTAGCA... |
Task1_train_13097 | An alteration has been detected in FKTN (fukutin) on Chromosome 9. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Dilated cardiomyopathy 1X | TCACTGTTATTCTTCTTACGATGGTGTGAGATGATAAAATGCCTACATGATGAGATGAAGGGAGATGAAGGATGTAGGCATTGTGATGTAGTGTTAGTCTACTATTGAAAATTTCCTGGGAAAATCAAGGAATGTGTCACAGAGGCTAAATCTGAGCCCTGAAAGATTTGATTTAACACTTCTGAATTGTTTATTTCTGGAATTTACCATTTAATATCTTCAGATCGTGGTTGTCCACAGGTAACTGAAACTGCTAAAAGCAAAACCACGGATATGGCAGGACTACTATAGTTGATTCTCAGATAATCCTTAAATTAGCA... | TCACTGTTATTCTTCTTACGATGGTGTGAGATGATAAAATGCCTACATGATGAGATGAAGGGAGATGAAGGATGTAGGCATTGTGATGTAGTGTTAGTCTACTATTGAAAATTTCCTGGGAAAATCAAGGAATGTGTCACAGAGGCTAAATCTGAGCCCTGAAAGATTTGATTTAACACTTCTGAATTGTTTATTTCTGGAATTTACCATTTAATATCTTCAGATCGTGGTTGTCCACAGGTAACTGAAACTGCTAAAAGCAAAACCACGGATATGGCAGGACTACTATAGTTGATTCTCAGATAATCCTTAAATTAGCA... |
Task1_train_13098 | The gene FKTN (fukutin) on Chromosome 9 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Dilated cardiomyopathy 1X | TTTCCAAACCTAAATTTTGTTAAAAAAATTTAATCTTCTTTTTAGGATGGTATCGACAATGCAACATTATTCCTTATAGCAAAGATGTTGACCTAGGAATTTTTATACAAGATTACAAATCTGATATTATTTTAGCATTTCAGGATGCAGGACTTCCGCTCAAACACAAATTTGGGAAGGTCAGTAACAAAAGTCGGCTTCATTTCATAAGTAACATATCTCACTTGTAAAGTTTACATTAAGCAACTCAGATATGGTTAAGAATGCTACATACATAATTTTATCACTCAGTATTGACTAGGATGAGTTCAGCAGAAGCC... | TTTCCAAACCTAAATTTTGTTAAAAAAATTTAATCTTCTTTTTAGGATGGTATCGACAATGCAACATTATTCCTTATAGCAAAGATGTTGACCTAGGAATTTTTATACAAGATTACAAATCTGATATTATTTTAGCATTTCAGGATGCAGGACTTCCGCTCAAACACAAATTTGGGAAGGTCAGTAACAAAAGTCGGCTTCATTTCATAAGTAACATATCTCACTTGTAAAGTTTACATTAAGCAACTCAGATATGGTTAAGAATGCTACATACATAATTTTATCACTCAGTATTGACTAGGATGAGTTCAGCAGAAGCC... |
Task1_train_13099 | The following genetic variant occurs in MUSK (muscle associated receptor tyrosine kinase) on Chromosome 9. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Congenital myasthenic syndrome 9 | CCATTTTTATGCTTAGGTTCAATGAAGTATGAACAGCTGTGTAGAAATATGATTAGACACAAAGGGTATGATCTAATGCTAACAGGCTGAGTGGGGAAACTAGCCCATCCTGCTTGTTCAGATTTTTCTCAGCCCCTCTGTGCAGCACTCACTCCTCCCAGGCAAGAGGTAGGATCCCTCTGGAATGAGGGTCTGAATTTCTTTATGGCCAGGTGTTACACAGAAAAGCTGGGGGTGGGTAGAGTAAATGTTTAGGTTTTATGGCTGGCCTTGAGGAAAAGGCGTTCTGGTGTCTGATCTGACTTGGAGAAGAGGGATTC... | CCATTTTTATGCTTAGGTTCAATGAAGTATGAACAGCTGTGTAGAAATATGATTAGACACAAAGGGTATGATCTAATGCTAACAGGCTGAGTGGGGAAACTAGCCCATCCTGCTTGTTCAGATTTTTCTCAGCCCCTCTGTGCAGCACTCACTCCTCCCAGGCAAGAGGTAGGATCCCTCTGGAATGAGGGTCTGAATTTCTTTATGGCCAGGTGTTACACAGAAAAGCTGGGGGTGGGTAGAGTAAATGTTTAGGTTTTATGGCTGGCCTTGAGGAAAAGGCGTTCTGGTGTCTGATCTGACTTGGAGAAGAGGGATTC... |
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