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_30900 | The gene COL4A5 (collagen type IV alpha 5 chain) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | ATTTTTTTTAATTATATAACCACAGTACACTTATTAACTTCAGAAAATTTAACATAGATATACATTAATTTCTATCTTTCATATTCCAGTTGGGTCCAATGACCTAATAATGTTCTTAGCATTTCTTCTTCCAGTACAGGATCCAGGCCAAGTCATGTTTTGCATTTAATTGTCATATCTCTTTAGCCTTCTTTAATCTGAAACAGTTCCTAAGTTTATTTTCTTTTTTTCATGACCTCGACATTTTTAAGAAATTGTACCACCACCCCCATTTTTAAATAGAATATTCCTTTTTTGCCTGATGTTTATTCATAATTAGA... | ATTTTTTTTAATTATATAACCACAGTACACTTATTAACTTCAGAAAATTTAACATAGATATACATTAATTTCTATCTTTCATATTCCAGTTGGGTCCAATGACCTAATAATGTTCTTAGCATTTCTTCTTCCAGTACAGGATCCAGGCCAAGTCATGTTTTGCATTTAATTGTCATATCTCTTTAGCCTTCTTTAATCTGAAACAGTTCCTAAGTTTATTTTCTTTTTTTCATGACCTCGACATTTTTAAGAAATTGTACCACCACCCCCATTTTTAAATAGAATATTCCTTTTTTGCCTGATGTTTATTCATAATTAGA... |
Task1_train_30901 | A change on Chromosome X affects gene COL4A5 (collagen type IV alpha 5 chain). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not provided | CTGAAACAGTTCCTAAGTTTATTTTCTTTTTTTCATGACCTCGACATTTTTAAGAAATTGTACCACCACCCCCATTTTTAAATAGAATATTCCTTTTTTGCCTGATGTTTATTCATAATTAGATTCAGGTTATGCATCCCCAGCTGGAATACTACATGAGTGGTTCTGTGTCCTTCTCAGGCTAACCGATAAGGAGGTCCATGATGTCTATCTGCTTCTCATTTGTGGTTTTAGTTTTAATCATCCAGTCAAGTTGTTGCTCAGTTTCTCCACTGCATCATTAGGTTTTTCCTTGCAACTAATAAAACTGTAGGAAGGCA... | CTGAAACAGTTCCTAAGTTTATTTTCTTTTTTTCATGACCTCGACATTTTTAAGAAATTGTACCACCACCCCCATTTTTAAATAGAATATTCCTTTTTTGCCTGATGTTTATTCATAATTAGATTCAGGTTATGCATCCCCAGCTGGAATACTACATGAGTGGTTCTGTGTCCTTCTCAGGCTAACCGATAAGGAGGTCCATGATGTCTATCTGCTTCTCATTTGTGGTTTTAGTTTTAATCATCCAGTCAAGTTGTTGCTCAGTTTCTCCACTGCATCATTAGGTTTTTCCTTGCAACTAATAAAACTGTAGGAAGGCA... |
Task1_train_30902 | This alteration in COL4A5 (collagen type IV alpha 5 chain) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; X-linked Alport syndrome | TTAGAAAAATTTATAATGAAATGAAAATGCATTTAAGATCTGGTGCTTTCTGTACATCATCCAGCAGAAAGATTGAAGGCTGATTTGGTGGGCTATCAGTTTCCCACTGTGAAGCCCCTTGTCTTTTAAACTAACTGGTGTCTAGCTGGCCATTTGACTCTACGTTTATAGCCAACTTTCATTAATCATTATAAAAGAAAACTAGAACTAACTTCAGTCTTTTGCTCTTATTAAGTGATCAAGTGACAGTCTTATCAAAAACAAAGTATACCTGGCAGTAACTTATGGTGGAATAGAAAACGAAAGTTGGGACTTACATT... | TTAGAAAAATTTATAATGAAATGAAAATGCATTTAAGATCTGGTGCTTTCTGTACATCATCCAGCAGAAAGATTGAAGGCTGATTTGGTGGGCTATCAGTTTCCCACTGTGAAGCCCCTTGTCTTTTAAACTAACTGGTGTCTAGCTGGCCATTTGACTCTACGTTTATAGCCAACTTTCATTAATCATTATAAAAGAAAACTAGAACTAACTTCAGTCTTTTGCTCTTATTAAGTGATCAAGTGACAGTCTTATCAAAAACAAAGTATACCTGGCAGTAACTTATGGTGGAATAGAAAACGAAAGTTGGGACTTACATT... |
Task1_train_30903 | This mutation is located in gene COL4A5 (collagen type IV alpha 5 chain) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | CACTGTGAAGCCCCTTGTCTTTTAAACTAACTGGTGTCTAGCTGGCCATTTGACTCTACGTTTATAGCCAACTTTCATTAATCATTATAAAAGAAAACTAGAACTAACTTCAGTCTTTTGCTCTTATTAAGTGATCAAGTGACAGTCTTATCAAAAACAAAGTATACCTGGCAGTAACTTATGGTGGAATAGAAAACGAAAGTTGGGACTTACATTCTTGTCTGATTCTGAAGACAAAGAGAGCACAACTCCATTAAAAGCATCCCAGAAGCAAATGGATTGTTTAAAACTAAAGCTAAATCCTTGTTGGCTTCTTTGGT... | CACTGTGAAGCCCCTTGTCTTTTAAACTAACTGGTGTCTAGCTGGCCATTTGACTCTACGTTTATAGCCAACTTTCATTAATCATTATAAAAGAAAACTAGAACTAACTTCAGTCTTTTGCTCTTATTAAGTGATCAAGTGACAGTCTTATCAAAAACAAAGTATACCTGGCAGTAACTTATGGTGGAATAGAAAACGAAAGTTGGGACTTACATTCTTGTCTGATTCTGAAGACAAAGAGAGCACAACTCCATTAAAAGCATCCCAGAAGCAAATGGATTGTTTAAAACTAAAGCTAAATCCTTGTTGGCTTCTTTGGT... |
Task1_train_30904 | Located on Chromosome X, this mutation impacts COL4A5 (collagen type IV alpha 5 chain). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not provided | ACTGGTGTCTAGCTGGCCATTTGACTCTACGTTTATAGCCAACTTTCATTAATCATTATAAAAGAAAACTAGAACTAACTTCAGTCTTTTGCTCTTATTAAGTGATCAAGTGACAGTCTTATCAAAAACAAAGTATACCTGGCAGTAACTTATGGTGGAATAGAAAACGAAAGTTGGGACTTACATTCTTGTCTGATTCTGAAGACAAAGAGAGCACAACTCCATTAAAAGCATCCCAGAAGCAAATGGATTGTTTAAAACTAAAGCTAAATCCTTGTTGGCTTCTTTGGTCCTGGACTTGAGTTATCTCTTCTTTTTTC... | ACTGGTGTCTAGCTGGCCATTTGACTCTACGTTTATAGCCAACTTTCATTAATCATTATAAAAGAAAACTAGAACTAACTTCAGTCTTTTGCTCTTATTAAGTGATCAAGTGACAGTCTTATCAAAAACAAAGTATACCTGGCAGTAACTTATGGTGGAATAGAAAACGAAAGTTGGGACTTACATTCTTGTCTGATTCTGAAGACAAAGAGAGCACAACTCCATTAAAAGCATCCCAGAAGCAAATGGATTGTTTAAAACTAAAGCTAAATCCTTGTTGGCTTCTTTGGTCCTGGACTTGAGTTATCTCTTCTTTTTTC... |
Task1_train_30905 | This sequence variant lies in COL4A5 (collagen type IV alpha 5 chain) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; X-linked Alport syndrome | CATTATAAAAGAAAACTAGAACTAACTTCAGTCTTTTGCTCTTATTAAGTGATCAAGTGACAGTCTTATCAAAAACAAAGTATACCTGGCAGTAACTTATGGTGGAATAGAAAACGAAAGTTGGGACTTACATTCTTGTCTGATTCTGAAGACAAAGAGAGCACAACTCCATTAAAAGCATCCCAGAAGCAAATGGATTGTTTAAAACTAAAGCTAAATCCTTGTTGGCTTCTTTGGTCCTGGACTTGAGTTATCTCTTCTTTTTTCTGGATTTAAGACAAAACCAAATTGTGAATTCAGTGTCTCGAGAACCTTATGTC... | CATTATAAAAGAAAACTAGAACTAACTTCAGTCTTTTGCTCTTATTAAGTGATCAAGTGACAGTCTTATCAAAAACAAAGTATACCTGGCAGTAACTTATGGTGGAATAGAAAACGAAAGTTGGGACTTACATTCTTGTCTGATTCTGAAGACAAAGAGAGCACAACTCCATTAAAAGCATCCCAGAAGCAAATGGATTGTTTAAAACTAAAGCTAAATCCTTGTTGGCTTCTTTGGTCCTGGACTTGAGTTATCTCTTCTTTTTTCTGGATTTAAGACAAAACCAAATTGTGAATTCAGTGTCTCGAGAACCTTATGTC... |
Task1_train_30906 | A genetic alteration is present in COL4A5 (collagen type IV alpha 5 chain) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; X-linked Alport syndrome | AATCCCATTACTGGATATTTACCCAAAGGAAAATAGTATATCAAAGAGATAGTTACACTGACATGTTTATTGTAGCACTATTCACAATAGCAAAGATATGGAATCAACCTAAGTATCCAACAAAGGATGAATGGATAAAGAAGATGTGGTATATATACACAATGGAATATTATTCAGCCATATAAAAAATGAAATCATGTCATTTGCAGCAACATGGTTGGAACTGGAAGTCATTATCTTAAGTGAAATAAGCCAGGCACAAAAAAAACAAGTATCACATGTTCTCACGTATATATGGGAGCTAAAAATTTGAACACATG... | AATCCCATTACTGGATATTTACCCAAAGGAAAATAGTATATCAAAGAGATAGTTACACTGACATGTTTATTGTAGCACTATTCACAATAGCAAAGATATGGAATCAACCTAAGTATCCAACAAAGGATGAATGGATAAAGAAGATGTGGTATATATACACAATGGAATATTATTCAGCCATATAAAAAATGAAATCATGTCATTTGCAGCAACATGGTTGGAACTGGAAGTCATTATCTTAAGTGAAATAAGCCAGGCACAAAAAAAACAAGTATCACATGTTCTCACGTATATATGGGAGCTAAAAATTTGAACACATG... |
Task1_train_30907 | Gene COL4A5 (collagen type IV alpha 5 chain) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; X-linked Alport syndrome | CTGCCTTCGTCGCTTTAGTACCATGCCTTTCATGTTCTGCAACATCAATAATGTTTGCAACTTTGCTTCAAGAAATGACTATTCTTACTGGCTCTCTACCCCAGAGCCCATGCCAATGAGCATGCAACCCCTAAAGGGCCAGAGCATCCAGCCATTCATTAGTCGGTAAGGCATTGATTTAGCTGTGACTTTTACCAATCCCCAGTTAGTTAGCTAGTCAGATTTGAGTCCAAAGCTAACAATCTGATGATATTCCTCCTAGGTTAGGTAGAACAGAGGTACCTCTTAATATTCAATTAAGTATTTAGTTTGACTCATAT... | CTGCCTTCGTCGCTTTAGTACCATGCCTTTCATGTTCTGCAACATCAATAATGTTTGCAACTTTGCTTCAAGAAATGACTATTCTTACTGGCTCTCTACCCCAGAGCCCATGCCAATGAGCATGCAACCCCTAAAGGGCCAGAGCATCCAGCCATTCATTAGTCGGTAAGGCATTGATTTAGCTGTGACTTTTACCAATCCCCAGTTAGTTAGCTAGTCAGATTTGAGTCCAAAGCTAACAATCTGATGATATTCCTCCTAGGTTAGGTAGAACAGAGGTACCTCTTAATATTCAATTAAGTATTTAGTTTGACTCATAT... |
Task1_train_30908 | This sequence change occurs on Chromosome X, altering COL4A5 (collagen type IV alpha 5 chain). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Alport syndrome | CTTTGCTTCAAGAAATGACTATTCTTACTGGCTCTCTACCCCAGAGCCCATGCCAATGAGCATGCAACCCCTAAAGGGCCAGAGCATCCAGCCATTCATTAGTCGGTAAGGCATTGATTTAGCTGTGACTTTTACCAATCCCCAGTTAGTTAGCTAGTCAGATTTGAGTCCAAAGCTAACAATCTGATGATATTCCTCCTAGGTTAGGTAGAACAGAGGTACCTCTTAATATTCAATTAAGTATTTAGTTTGACTCATATTTATTGGGGGTCTGCTTTTGACCAGGCCCCCATGATAGACATAGTGTAATAGCCAGATAA... | CTTTGCTTCAAGAAATGACTATTCTTACTGGCTCTCTACCCCAGAGCCCATGCCAATGAGCATGCAACCCCTAAAGGGCCAGAGCATCCAGCCATTCATTAGTCGGTAAGGCATTGATTTAGCTGTGACTTTTACCAATCCCCAGTTAGTTAGCTAGTCAGATTTGAGTCCAAAGCTAACAATCTGATGATATTCCTCCTAGGTTAGGTAGAACAGAGGTACCTCTTAATATTCAATTAAGTATTTAGTTTGACTCATATTTATTGGGGGTCTGCTTTTGACCAGGCCCCCATGATAGACATAGTGTAATAGCCAGATAA... |
Task1_train_30909 | This genomic variant is located on Chromosome X, within the COL4A5 (collagen type IV alpha 5 chain) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not provided | CCAATGAGCATGCAACCCCTAAAGGGCCAGAGCATCCAGCCATTCATTAGTCGGTAAGGCATTGATTTAGCTGTGACTTTTACCAATCCCCAGTTAGTTAGCTAGTCAGATTTGAGTCCAAAGCTAACAATCTGATGATATTCCTCCTAGGTTAGGTAGAACAGAGGTACCTCTTAATATTCAATTAAGTATTTAGTTTGACTCATATTTATTGGGGGTCTGCTTTTGACCAGGCCCCCATGATAGACATAGTGTAATAGCCAGATAATGCACAGTGTAGTAATTATTTATTACATAAATTTGTCTAATATATATCAGAT... | CCAATGAGCATGCAACCCCTAAAGGGCCAGAGCATCCAGCCATTCATTAGTCGGTAAGGCATTGATTTAGCTGTGACTTTTACCAATCCCCAGTTAGTTAGCTAGTCAGATTTGAGTCCAAAGCTAACAATCTGATGATATTCCTCCTAGGTTAGGTAGAACAGAGGTACCTCTTAATATTCAATTAAGTATTTAGTTTGACTCATATTTATTGGGGGTCTGCTTTTGACCAGGCCCCCATGATAGACATAGTGTAATAGCCAGATAATGCACAGTGTAGTAATTATTTATTACATAAATTTGTCTAATATATATCAGAT... |
Task1_train_30910 | Here’s a variant in COL4A5 (collagen type IV alpha 5 chain) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; X-linked Alport syndrome | TAGAAGGACTTGAGGCACAGGCAGTTATAAAGGGGAAATATACACTAGGCAGATAAATGACAATGGGTAATAAAACAATGTGTCTAGGATGTAGTATGTAAAGGTTATGTTGGGAGAAAAGATTGTAAAGTTAGCTTGGGCCCAGATGGTAGAAGGCCTTCTGTACCAAATTGTAGTTTAAAGTTTATTTGATATGTAACAAGGAGCCCTGAAATATTTTAGAGCTACACTTCAGGTTAGATTATAGTGCCATCAATGTGTAACATGGATTACAAAAGGGATAGTCTCGAGGTAGAGAGACCAGTTGGATTGAAGGGTAT... | TAGAAGGACTTGAGGCACAGGCAGTTATAAAGGGGAAATATACACTAGGCAGATAAATGACAATGGGTAATAAAACAATGTGTCTAGGATGTAGTATGTAAAGGTTATGTTGGGAGAAAAGATTGTAAAGTTAGCTTGGGCCCAGATGGTAGAAGGCCTTCTGTACCAAATTGTAGTTTAAAGTTTATTTGATATGTAACAAGGAGCCCTGAAATATTTTAGAGCTACACTTCAGGTTAGATTATAGTGCCATCAATGTGTAACATGGATTACAAAAGGGATAGTCTCGAGGTAGAGAGACCAGTTGGATTGAAGGGTAT... |
Task1_train_30911 | The gene COL4A5 (collagen type IV alpha 5 chain) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Alport syndrome | GGAAATATACACTAGGCAGATAAATGACAATGGGTAATAAAACAATGTGTCTAGGATGTAGTATGTAAAGGTTATGTTGGGAGAAAAGATTGTAAAGTTAGCTTGGGCCCAGATGGTAGAAGGCCTTCTGTACCAAATTGTAGTTTAAAGTTTATTTGATATGTAACAAGGAGCCCTGAAATATTTTAGAGCTACACTTCAGGTTAGATTATAGTGCCATCAATGTGTAACATGGATTACAAAAGGGATAGTCTCGAGGTAGAGAGACCAGTTGGATTGAAGGGTATTGCTATAGCCCTGATGTGAGTAAATTGGAACTC... | GGAAATATACACTAGGCAGATAAATGACAATGGGTAATAAAACAATGTGTCTAGGATGTAGTATGTAAAGGTTATGTTGGGAGAAAAGATTGTAAAGTTAGCTTGGGCCCAGATGGTAGAAGGCCTTCTGTACCAAATTGTAGTTTAAAGTTTATTTGATATGTAACAAGGAGCCCTGAAATATTTTAGAGCTACACTTCAGGTTAGATTATAGTGCCATCAATGTGTAACATGGATTACAAAAGGGATAGTCTCGAGGTAGAGAGACCAGTTGGATTGAAGGGTATTGCTATAGCCCTGATGTGAGTAAATTGGAACTC... |
Task1_train_30912 | This alteration in COL4A5 (collagen type IV alpha 5 chain) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; X-linked Alport syndrome | GGAAATATACACTAGGCAGATAAATGACAATGGGTAATAAAACAATGTGTCTAGGATGTAGTATGTAAAGGTTATGTTGGGAGAAAAGATTGTAAAGTTAGCTTGGGCCCAGATGGTAGAAGGCCTTCTGTACCAAATTGTAGTTTAAAGTTTATTTGATATGTAACAAGGAGCCCTGAAATATTTTAGAGCTACACTTCAGGTTAGATTATAGTGCCATCAATGTGTAACATGGATTACAAAAGGGATAGTCTCGAGGTAGAGAGACCAGTTGGATTGAAGGGTATTGCTATAGCCCTGATGTGAGTAAATTGGAACTC... | GGAAATATACACTAGGCAGATAAATGACAATGGGTAATAAAACAATGTGTCTAGGATGTAGTATGTAAAGGTTATGTTGGGAGAAAAGATTGTAAAGTTAGCTTGGGCCCAGATGGTAGAAGGCCTTCTGTACCAAATTGTAGTTTAAAGTTTATTTGATATGTAACAAGGAGCCCTGAAATATTTTAGAGCTACACTTCAGGTTAGATTATAGTGCCATCAATGTGTAACATGGATTACAAAAGGGATAGTCTCGAGGTAGAGAGACCAGTTGGATTGAAGGGTATTGCTATAGCCCTGATGTGAGTAAATTGGAACTC... |
Task1_train_30913 | A variant has been detected on Chromosome X in COL4A5 (collagen type IV alpha 5 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | TGGGTAATAAAACAATGTGTCTAGGATGTAGTATGTAAAGGTTATGTTGGGAGAAAAGATTGTAAAGTTAGCTTGGGCCCAGATGGTAGAAGGCCTTCTGTACCAAATTGTAGTTTAAAGTTTATTTGATATGTAACAAGGAGCCCTGAAATATTTTAGAGCTACACTTCAGGTTAGATTATAGTGCCATCAATGTGTAACATGGATTACAAAAGGGATAGTCTCGAGGTAGAGAGACCAGTTGGATTGAAGGGTATTGCTATAGCCCTGATGTGAGTAAATTGGAACTCACAGTGGGGTACATGTATCACATTATTAGG... | TGGGTAATAAAACAATGTGTCTAGGATGTAGTATGTAAAGGTTATGTTGGGAGAAAAGATTGTAAAGTTAGCTTGGGCCCAGATGGTAGAAGGCCTTCTGTACCAAATTGTAGTTTAAAGTTTATTTGATATGTAACAAGGAGCCCTGAAATATTTTAGAGCTACACTTCAGGTTAGATTATAGTGCCATCAATGTGTAACATGGATTACAAAAGGGATAGTCTCGAGGTAGAGAGACCAGTTGGATTGAAGGGTATTGCTATAGCCCTGATGTGAGTAAATTGGAACTCACAGTGGGGTACATGTATCACATTATTAGG... |
Task1_train_30914 | Consider a variant on Chromosome X in gene ACSL4 (acyl-CoA synthetase long chain family member 4). Determine its clinical classification and disease relevance. | Pathogenic; Intellectual disability, X-linked 63 | TAATTCCAAATATATATTTCTCTTATTTATTAAAGTTTCATTAGGAAATGATAAAACCCATAGTACCAGCATAAAGAAGGACATATAGACCAATGGAATAGAGAAACTAGAAGTAAACCCTTGTATCTATGGAGAAACGATCTTTGACAAGGGTGTTAAGACCACTCAATGAGGAAAGGACAGTCTCGTCAACAAATGGTACTAGGAAAACTGGATATCCACATGCAATGAATGAAGGTGGACCTTCACCTTACAACATATACAAAAATTAGCTCAAAATGGATCAAAAATCTAAACATCGAAGAGCTATTAAGTCGGTG... | TAATTCCAAATATATATTTCTCTTATTTATTAAAGTTTCATTAGGAAATGATAAAACCCATAGTACCAGCATAAAGAAGGACATATAGACCAATGGAATAGAGAAACTAGAAGTAAACCCTTGTATCTATGGAGAAACGATCTTTGACAAGGGTGTTAAGACCACTCAATGAGGAAAGGACAGTCTCGTCAACAAATGGTACTAGGAAAACTGGATATCCACATGCAATGAATGAAGGTGGACCTTCACCTTACAACATATACAAAAATTAGCTCAAAATGGATCAAAAATCTAAACATCGAAGAGCTATTAAGTCGGTG... |
Task1_train_30915 | Gene ACSL4 (acyl-CoA synthetase long chain family member 4), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | TCCTTCCAGCACTGGATACTAATCATAGACATCAGCAAGGCCTTGATGAGTAAGGAACATAATACAGTTGTAACACATTGGCAGAGTTTATTGTTAGCACATTAAGTCACCCTTTATCTCAACCTAACATTACATGATGTTCAATGGAGCCACAGCTGATAAGTAGTGACTTATTCTGAATTTTCACTGTGAATGTTATAGTATTCAATCAATCTTTCATTCTGACCCAGGAAAGAAACAAACTCAAAAAACAGACTCTACCAAAAATAATTCTCAATAAAGAGTTGTTTTTTTTTTAAATGGCCTATTTCTGGAGAAAC... | TCCTTCCAGCACTGGATACTAATCATAGACATCAGCAAGGCCTTGATGAGTAAGGAACATAATACAGTTGTAACACATTGGCAGAGTTTATTGTTAGCACATTAAGTCACCCTTTATCTCAACCTAACATTACATGATGTTCAATGGAGCCACAGCTGATAAGTAGTGACTTATTCTGAATTTTCACTGTGAATGTTATAGTATTCAATCAATCTTTCATTCTGACCCAGGAAAGAAACAAACTCAAAAAACAGACTCTACCAAAAATAATTCTCAATAAAGAGTTGTTTTTTTTTTAAATGGCCTATTTCTGGAGAAAC... |
Task1_train_30916 | A variant affecting Chromosome X, within the gene AMMECR1 (AMMECR nuclear protein 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | ATTTGAACAATTCATTCAGAATCACATTATTGTCAGAAAATTATACTGTAATTCTTCTGGTCATTACCCTAGGATATAAATGGACAAGTCCAGAAAAGTTGGATGTTTTCACCCCTTGCCAACATTGGCAAAAGAATTTATTTTTTTCTTTAAACAAAACCCAATTGCTACCACAATGACCACTACGAAAGATTTCTAAGGTATATAATGTTTGATAATGGGATTTCTGCTACAATTTCACTAGAAAGCACAAAGGGTTTCTATAATACCAACTCTTACTACCCAAATATAAAGTAATATTCTGTTTTGAAAACAGACTT... | ATTTGAACAATTCATTCAGAATCACATTATTGTCAGAAAATTATACTGTAATTCTTCTGGTCATTACCCTAGGATATAAATGGACAAGTCCAGAAAAGTTGGATGTTTTCACCCCTTGCCAACATTGGCAAAAGAATTTATTTTTTTCTTTAAACAAAACCCAATTGCTACCACAATGACCACTACGAAAGATTTCTAAGGTATATAATGTTTGATAATGGGATTTCTGCTACAATTTCACTAGAAAGCACAAAGGGTTTCTATAATACCAACTCTTACTACCCAAATATAAAGTAATATTCTGTTTTGAAAACAGACTT... |
Task1_train_30917 | This variant affects the gene CHRDL1 (chordin like 1) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Megalocornea | CTATAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATAACTTGAACCGGGAGGTGGAGGTTGCAAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCTAGACTCTGTCTCAAAAAAACAAAAAATAAAAAAAAAAATAAAAAGAATGTGTTCTCTCTGTATTCGTAATAAATACATTTTCTCATAAATTTCAATGCCCCAGTTCTCTACACCTTATCAAATAGCTCCTGTCCTTCCTGTCCACACGCTGCCCCCTGTGTACTCTGGAAGATGGGGGTTGTTACATTGAGGAAGATTTT... | CTATAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATAACTTGAACCGGGAGGTGGAGGTTGCAAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCTAGACTCTGTCTCAAAAAAACAAAAAATAAAAAAAAAAATAAAAAGAATGTGTTCTCTCTGTATTCGTAATAAATACATTTTCTCATAAATTTCAATGCCCCAGTTCTCTACACCTTATCAAATAGCTCCTGTCCTTCCTGTCCACACGCTGCCCCCTGTGTACTCTGGAAGATGGGGGTTGTTACATTGAGGAAGATTTT... |
Task1_train_30918 | Here is a mutation in PAK3 (p21 (RAC1) activated kinase 3) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Intellectual disability, X-linked 30 | ATTTGTATTTGTAATTTTATAATGTCTTTTACTTAAAGGGAACCTTCCTCTCAAATTACATGAAGTATTTGGTCCCCCAACATGTGGATCCACCCCTGCCAACCACAGATTAGGGAATTACCTAACATGAGTTAGTATTTGGGAGTGGAGGCAATCCAATAGAGAAAGAAATGTAGAAGGCCAAAAACTGTACTAGCAAAGGCAAAAGCAATGACAATCAAAGAAAGAAAGGTCACTGAGAAAGGAGGAATGCCAGGCCACATTGTCAAGGAAGTAGAAAGAGAAGTAGCTAGCCATGGCCAGCATGGGTGGGACATCAT... | ATTTGTATTTGTAATTTTATAATGTCTTTTACTTAAAGGGAACCTTCCTCTCAAATTACATGAAGTATTTGGTCCCCCAACATGTGGATCCACCCCTGCCAACCACAGATTAGGGAATTACCTAACATGAGTTAGTATTTGGGAGTGGAGGCAATCCAATAGAGAAAGAAATGTAGAAGGCCAAAAACTGTACTAGCAAAGGCAAAAGCAATGACAATCAAAGAAAGAAAGGTCACTGAGAAAGGAGGAATGCCAGGCCACATTGTCAAGGAAGTAGAAAGAGAAGTAGCTAGCCATGGCCAGCATGGGTGGGACATCAT... |
Task1_train_30919 | A change on Chromosome X affects gene PAK3 (p21 (RAC1) activated kinase 3). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Microcephaly | CAAAGTCACATAGCTTGATGATGTTAGGACAAATATTAGAACTCAGATCTCTACTAATAGTCAAATATGCCTTATACTACACACCGAGTTTACTCCCTGAGAGCCAGGTCATATACACTTCCTGGACCTGTGAGAAATATTTGGGCTAATACAAGGAGAAGGGAAAAGAATGACAAGGAAGTGCCTGACATAAGAAAATAATTCCTGGACTCAGAAAACAAAACAGCAAGGATGAAATAAAGAACAAGAGAAATAATTACCAGAAAGTTTACAAAGCAATGTTGGAGTATTATAACATGTAGTCAATCACAGGACTGATC... | CAAAGTCACATAGCTTGATGATGTTAGGACAAATATTAGAACTCAGATCTCTACTAATAGTCAAATATGCCTTATACTACACACCGAGTTTACTCCCTGAGAGCCAGGTCATATACACTTCCTGGACCTGTGAGAAATATTTGGGCTAATACAAGGAGAAGGGAAAAGAATGACAAGGAAGTGCCTGACATAAGAAAATAATTCCTGGACTCAGAAAACAAAACAGCAAGGATGAAATAAAGAACAAGAGAAATAATTACCAGAAAGTTTACAAAGCAATGTTGGAGTATTATAACATGTAGTCAATCACAGGACTGATC... |
Task1_train_30920 | The variant affects gene PAK3 (p21 (RAC1) activated kinase 3), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Intellectual disability | CAAAGTCACATAGCTTGATGATGTTAGGACAAATATTAGAACTCAGATCTCTACTAATAGTCAAATATGCCTTATACTACACACCGAGTTTACTCCCTGAGAGCCAGGTCATATACACTTCCTGGACCTGTGAGAAATATTTGGGCTAATACAAGGAGAAGGGAAAAGAATGACAAGGAAGTGCCTGACATAAGAAAATAATTCCTGGACTCAGAAAACAAAACAGCAAGGATGAAATAAAGAACAAGAGAAATAATTACCAGAAAGTTTACAAAGCAATGTTGGAGTATTATAACATGTAGTCAATCACAGGACTGATC... | CAAAGTCACATAGCTTGATGATGTTAGGACAAATATTAGAACTCAGATCTCTACTAATAGTCAAATATGCCTTATACTACACACCGAGTTTACTCCCTGAGAGCCAGGTCATATACACTTCCTGGACCTGTGAGAAATATTTGGGCTAATACAAGGAGAAGGGAAAAGAATGACAAGGAAGTGCCTGACATAAGAAAATAATTCCTGGACTCAGAAAACAAAACAGCAAGGATGAAATAAAGAACAAGAGAAATAATTACCAGAAAGTTTACAAAGCAATGTTGGAGTATTATAACATGTAGTCAATCACAGGACTGATC... |
Task1_train_30921 | With a mutation on Chromosome X in gene PAK3 (p21 (RAC1) activated kinase 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | AAAAAAAAAAGTGGGGGGCATGTGTTTGTGGCACAGGGAAAGAGCTTAGTAAATAAAGAATGTGTATGTTTCACTCTATGTCCCCCAAAATATGAATATTCATGTTTATTATAATGATTGTAATTCATTCTTGTATTTTAATTGCCATTCAGGTGGCCATAAAGCAGATGAACCTTCAACAGCAACCCAAGAAGGAATTAATTATTAATGAAATTCTGGTCATGAGGGAAAATAAGAACCCTAATATTGTTAATTATTTAGATAGGTAAGTGTTTTGTCTTATTATGTACTTATATTCTTTGTGGGATGTCATTTTTTCT... | AAAAAAAAAAGTGGGGGGCATGTGTTTGTGGCACAGGGAAAGAGCTTAGTAAATAAAGAATGTGTATGTTTCACTCTATGTCCCCCAAAATATGAATATTCATGTTTATTATAATGATTGTAATTCATTCTTGTATTTTAATTGCCATTCAGGTGGCCATAAAGCAGATGAACCTTCAACAGCAACCCAAGAAGGAATTAATTATTAATGAAATTCTGGTCATGAGGGAAAATAAGAACCCTAATATTGTTAATTATTTAGATAGGTAAGTGTTTTGTCTTATTATGTACTTATATTCTTTGTGGGATGTCATTTTTTCT... |
Task1_train_30922 | Consider this mutation in PAK3 (p21 (RAC1) activated kinase 3) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; Intellectual disability, X-linked 30 | CTTTTCCACTGAAAACAATTGGAGAGGCCAACTTCAATTTAAATTCTGTCCTAATAGCACTCCCCAGCATCACCCTCCTGAGCCTCTTGTTTATTTTAGCTGCCTTTTGTGAATCTTTTAGTTCCATTATGCCATTTGTGAGGTGCCGTATCTAAACCCACATGCTGTAGTTTCCGTGAACATGGGAAACAGTGATATTGGCATAGCACTTCTTTCTAATTTGGGGAAGTTTTTACATGATACTTATTTTATCCTGCATGTGTAATATGAGCCATGTAAAATAAATTATATTTTCATCATTTTTAGAAGGCAATTTAAAC... | CTTTTCCACTGAAAACAATTGGAGAGGCCAACTTCAATTTAAATTCTGTCCTAATAGCACTCCCCAGCATCACCCTCCTGAGCCTCTTGTTTATTTTAGCTGCCTTTTGTGAATCTTTTAGTTCCATTATGCCATTTGTGAGGTGCCGTATCTAAACCCACATGCTGTAGTTTCCGTGAACATGGGAAACAGTGATATTGGCATAGCACTTCTTTCTAATTTGGGGAAGTTTTTACATGATACTTATTTTATCCTGCATGTGTAATATGAGCCATGTAAAATAAATTATATTTTCATCATTTTTAGAAGGCAATTTAAAC... |
Task1_train_30923 | Given this context: Chromosome X, gene DCX (doublecortin) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Ectopic tissue | GACAGCTTAGTAGAGGATAAAACAGGCTCAGCATGTTATCAGCCTCTGGAAACCGCAATAACCATCACAGGCCAAAGGACCTAAATGGGTCAGGACTACAATGTGGTCCTTATTATTAGTAGGAGCCATGGTTCTGGGGAGGGAGGCATTAGGGAAACCTTCAAAAGCCACCTGGGCTAAGCTAGGTGTTTAAGCCCCTGAATTACGAAAACAAGGGCAAGAGTCCATAAACAGGTCAAGTAGGCAATTAAATAGTCAATTCAATCATTTATGGACAAGCTAGCTATGTCTCAGAATAGCACCTATTGATATAATGTTTA... | GACAGCTTAGTAGAGGATAAAACAGGCTCAGCATGTTATCAGCCTCTGGAAACCGCAATAACCATCACAGGCCAAAGGACCTAAATGGGTCAGGACTACAATGTGGTCCTTATTATTAGTAGGAGCCATGGTTCTGGGGAGGGAGGCATTAGGGAAACCTTCAAAAGCCACCTGGGCTAAGCTAGGTGTTTAAGCCCCTGAATTACGAAAACAAGGGCAAGAGTCCATAAACAGGTCAAGTAGGCAATTAAATAGTCAATTCAATCATTTATGGACAAGCTAGCTATGTCTCAGAATAGCACCTATTGATATAATGTTTA... |
Task1_train_30924 | The gene DCX (doublecortin) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Ectopic tissue | ATTAGCCGGGTATTGCAGCGTGCGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCCAAATTCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGACTCCAAAAGTAAATAAATAAATAAATAAAGTAGGAGAAAGAGAGCTAACATTTATTAATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTC... | ATTAGCCGGGTATTGCAGCGTGCGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCCAAATTCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGACTCCAAAAGTAAATAAATAAATAAATAAAGTAGGAGAAAGAGAGCTAACATTTATTAATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTC... |
Task1_train_30925 | Gene DCX (doublecortin) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Ectopic tissue | TGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCCAAATTCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGACTCCAAAAGTAAATAAATAAATAAATAAAGTAGGAGAAAGAGAGCTAACATTTATTAATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTC... | TGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCCAAATTCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGACTCCAAAAGTAAATAAATAAATAAATAAAGTAGGAGAAAGAGAGCTAACATTTATTAATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTC... |
Task1_train_30926 | This mutation occurs in DCX (doublecortin) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Ectopic tissue | CAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCCAAATTCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGACTCCAAAAGTAAATAAATAAATAAATAAAGTAGGAGAAAGAGAGCTAACATTTATTAATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAG... | CAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCCAAATTCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGACTCCAAAAGTAAATAAATAAATAAATAAAGTAGGAGAAAGAGAGCTAACATTTATTAATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAG... |
Task1_train_30927 | Gene DCX (doublecortin), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Ectopic tissue | CTCAGGAGGCAGAGGTTGCAGTGAGCCAAATTCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGACTCCAAAAGTAAATAAATAAATAAATAAAGTAGGAGAAAGAGAGCTAACATTTATTAATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCA... | CTCAGGAGGCAGAGGTTGCAGTGAGCCAAATTCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGACTCCAAAAGTAAATAAATAAATAAATAAAGTAGGAGAAAGAGAGCTAACATTTATTAATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCA... |
Task1_train_30928 | This mutation is located in gene DCX (doublecortin) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Neurodevelopmental disorder | AGGAGGCAGAGGTTGCAGTGAGCCAAATTCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGACTCCAAAAGTAAATAAATAAATAAATAAAGTAGGAGAAAGAGAGCTAACATTTATTAATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGA... | AGGAGGCAGAGGTTGCAGTGAGCCAAATTCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGACTCCAAAAGTAAATAAATAAATAAATAAAGTAGGAGAAAGAGAGCTAACATTTATTAATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGA... |
Task1_train_30929 | A mutation on Chromosome X affecting DCX (doublecortin) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Ectopic tissue | AGGAGGCAGAGGTTGCAGTGAGCCAAATTCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGACTCCAAAAGTAAATAAATAAATAAATAAAGTAGGAGAAAGAGAGCTAACATTTATTAATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGA... | AGGAGGCAGAGGTTGCAGTGAGCCAAATTCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGACTCCAAAAGTAAATAAATAAATAAATAAAGTAGGAGAAAGAGAGCTAACATTTATTAATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGA... |
Task1_train_30930 | Here’s a variant in DCX (doublecortin) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Ectopic tissue | GGAGGCAGAGGTTGCAGTGAGCCAAATTCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGACTCCAAAAGTAAATAAATAAATAAATAAAGTAGGAGAAAGAGAGCTAACATTTATTAATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGAC... | GGAGGCAGAGGTTGCAGTGAGCCAAATTCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGACTCCAAAAGTAAATAAATAAATAAATAAAGTAGGAGAAAGAGAGCTAACATTTATTAATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGAC... |
Task1_train_30931 | With a mutation on Chromosome X in gene DCX (doublecortin), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Ectopic tissue | GCCAAATTCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGACTCCAAAAGTAAATAAATAAATAAATAAAGTAGGAGAAAGAGAGCTAACATTTATTAATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGACAGTTAAGTGGTTAAGTGACA... | GCCAAATTCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGACTCCAAAAGTAAATAAATAAATAAATAAAGTAGGAGAAAGAGAGCTAACATTTATTAATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGACAGTTAAGTGGTTAAGTGACA... |
Task1_train_30932 | A variant has been detected on Chromosome X in DCX (doublecortin). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Inborn genetic diseases | GCCAAATTCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGACTCCAAAAGTAAATAAATAAATAAATAAAGTAGGAGAAAGAGAGCTAACATTTATTAATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGACAGTTAAGTGGTTAAGTGACA... | GCCAAATTCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGACTCCAAAAGTAAATAAATAAATAAATAAAGTAGGAGAAAGAGAGCTAACATTTATTAATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGACAGTTAAGTGGTTAAGTGACA... |
Task1_train_30933 | Gene DCX (doublecortin), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Lissencephaly type 1 due to doublecortin gene mutation | GCCAAATTCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGACTCCAAAAGTAAATAAATAAATAAATAAAGTAGGAGAAAGAGAGCTAACATTTATTAATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGACAGTTAAGTGGTTAAGTGACA... | GCCAAATTCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGACTCCAAAAGTAAATAAATAAATAAATAAAGTAGGAGAAAGAGAGCTAACATTTATTAATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGACAGTTAAGTGGTTAAGTGACA... |
Task1_train_30934 | An alteration has been detected in DCX (doublecortin) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Ectopic tissue | CCAAATTCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGACTCCAAAAGTAAATAAATAAATAAATAAAGTAGGAGAAAGAGAGCTAACATTTATTAATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGACAGTTAAGTGGTTAAGTGACAA... | CCAAATTCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGACTCCAAAAGTAAATAAATAAATAAATAAAGTAGGAGAAAGAGAGCTAACATTTATTAATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGACAGTTAAGTGGTTAAGTGACAA... |
Task1_train_30935 | This alteration in DCX (doublecortin) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Ectopic tissue | CCAAATTCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGACTCCAAAAGTAAATAAATAAATAAATAAAGTAGGAGAAAGAGAGCTAACATTTATTAATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGACAGTTAAGTGGTTAAGTGACAA... | CCAAATTCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGACTCCAAAAGTAAATAAATAAATAAATAAAGTAGGAGAAAGAGAGCTAACATTTATTAATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGACAGTTAAGTGGTTAAGTGACAA... |
Task1_train_30936 | Consider a variant on Chromosome X in gene DCX (doublecortin). Determine its clinical classification and disease relevance. | Pathogenic; Ectopic tissue | CACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGACTCCAAAAGTAAATAAATAAATAAATAAAGTAGGAGAAAGAGAGCTAACATTTATTAATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGACAGTTAAGTGGTTAAGTGACAATATCAAGACTAA... | CACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGACTCCAAAAGTAAATAAATAAATAAATAAAGTAGGAGAAAGAGAGCTAACATTTATTAATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGACAGTTAAGTGGTTAAGTGACAATATCAAGACTAA... |
Task1_train_30937 | The gene DCX (doublecortin), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Ectopic tissue | CTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGACTCCAAAAGTAAATAAATAAATAAATAAAGTAGGAGAAAGAGAGCTAACATTTATTAATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGACAGTTAAGTGGTTAAGTGACAATATCAAGACTAAAG... | CTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGACTCCAAAAGTAAATAAATAAATAAATAAAGTAGGAGAAAGAGAGCTAACATTTATTAATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGACAGTTAAGTGGTTAAGTGACAATATCAAGACTAAAG... |
Task1_train_30938 | Given a variant located on Chromosome X and affecting DCX (doublecortin), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Ectopic tissue | GGTGACAGAGTGAGACTCTGACTCCAAAAGTAAATAAATAAATAAATAAAGTAGGAGAAAGAGAGCTAACATTTATTAATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGACAGTTAAGTGGTTAAGTGACAATATCAAGACTAAAGTCCAAATCTTCTTAA... | GGTGACAGAGTGAGACTCTGACTCCAAAAGTAAATAAATAAATAAATAAAGTAGGAGAAAGAGAGCTAACATTTATTAATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGACAGTTAAGTGGTTAAGTGACAATATCAAGACTAAAGTCCAAATCTTCTTAA... |
Task1_train_30939 | This variant lies on Chromosome X and affects the gene DCX (doublecortin). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Ectopic tissue | CAAAAGTAAATAAATAAATAAATAAAGTAGGAGAAAGAGAGCTAACATTTATTAATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGACAGTTAAGTGGTTAAGTGACAATATCAAGACTAAAGTCCAAATCTTCTTAATCCCAGTCTTATGTTTTTGATTTG... | CAAAAGTAAATAAATAAATAAATAAAGTAGGAGAAAGAGAGCTAACATTTATTAATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGACAGTTAAGTGGTTAAGTGACAATATCAAGACTAAAGTCCAAATCTTCTTAATCCCAGTCTTATGTTTTTGATTTG... |
Task1_train_30940 | This genomic variant is located on Chromosome X, within the DCX (doublecortin) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Ectopic tissue | AAAAGTAAATAAATAAATAAATAAAGTAGGAGAAAGAGAGCTAACATTTATTAATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGACAGTTAAGTGGTTAAGTGACAATATCAAGACTAAAGTCCAAATCTTCTTAATCCCAGTCTTATGTTTTTGATTTGC... | AAAAGTAAATAAATAAATAAATAAAGTAGGAGAAAGAGAGCTAACATTTATTAATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGACAGTTAAGTGGTTAAGTGACAATATCAAGACTAAAGTCCAAATCTTCTTAATCCCAGTCTTATGTTTTTGATTTGC... |
Task1_train_30941 | This sequence variant lies in DCX (doublecortin) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Ectopic tissue | AAAAGTAAATAAATAAATAAATAAAGTAGGAGAAAGAGAGCTAACATTTATTAATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGACAGTTAAGTGGTTAAGTGACAATATCAAGACTAAAGTCCAAATCTTCTTAATCCCAGTCTTATGTTTTTGATTTGC... | AAAAGTAAATAAATAAATAAATAAAGTAGGAGAAAGAGAGCTAACATTTATTAATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGACAGTTAAGTGGTTAAGTGACAATATCAAGACTAAAGTCCAAATCTTCTTAATCCCAGTCTTATGTTTTTGATTTGC... |
Task1_train_30942 | This mutation occurs in DCX (doublecortin) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Ectopic tissue | ATAAATAAATAAAGTAGGAGAAAGAGAGCTAACATTTATTAATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGACAGTTAAGTGGTTAAGTGACAATATCAAGACTAAAGTCCAAATCTTCTTAATCCCAGTCTTATGTTTTTGATTTGCATATTCCTATAT... | ATAAATAAATAAAGTAGGAGAAAGAGAGCTAACATTTATTAATATATGAAAATTGCCATAAATCTCATTTAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGACAGTTAAGTGGTTAAGTGACAATATCAAGACTAAAGTCCAAATCTTCTTAATCCCAGTCTTATGTTTTTGATTTGCATATTCCTATAT... |
Task1_train_30943 | This variant affects gene DCX (doublecortin) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; Ectopic tissue | TAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGACAGTTAAGTGGTTAAGTGACAATATCAAGACTAAAGTCCAAATCTTCTTAATCCCAGTCTTATGTTTTTGATTTGCATATTCCTATATTACTTCAGAAGGCTGAAGGCACAGGGAATCAGATTTATGCCTAATATAAAGAAACTCTAAAAATCACAG... | TAATGATGAATTATATGCATATATATATATATACATCCATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGACAGTTAAGTGGTTAAGTGACAATATCAAGACTAAAGTCCAAATCTTCTTAATCCCAGTCTTATGTTTTTGATTTGCATATTCCTATATTACTTCAGAAGGCTGAAGGCACAGGGAATCAGATTTATGCCTAATATAAAGAAACTCTAAAAATCACAG... |
Task1_train_30944 | This alteration occurs within gene DCX (doublecortin) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; Ectopic tissue | ATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGACAGTTAAGTGGTTAAGTGACAATATCAAGACTAAAGTCCAAATCTTCTTAATCCCAGTCTTATGTTTTTGATTTGCATATTCCTATATTACTTCAGAAGGCTGAAGGCACAGGGAATCAGATTTATGCCTAATATAAAGAAACTCTAAAAATCACAGCTGTTGAACAGTGAAATAGGCTGTCTTATAGTCTTATA... | ATGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGACAGTTAAGTGGTTAAGTGACAATATCAAGACTAAAGTCCAAATCTTCTTAATCCCAGTCTTATGTTTTTGATTTGCATATTCCTATATTACTTCAGAAGGCTGAAGGCACAGGGAATCAGATTTATGCCTAATATAAAGAAACTCTAAAAATCACAGCTGTTGAACAGTGAAATAGGCTGTCTTATAGTCTTATA... |
Task1_train_30945 | Located on Chromosome X, this mutation impacts DCX (doublecortin). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Ectopic tissue | TGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGACAGTTAAGTGGTTAAGTGACAATATCAAGACTAAAGTCCAAATCTTCTTAATCCCAGTCTTATGTTTTTGATTTGCATATTCCTATATTACTTCAGAAGGCTGAAGGCACAGGGAATCAGATTTATGCCTAATATAAAGAAACTCTAAAAATCACAGCTGTTGAACAGTGAAATAGGCTGTCTTATAGTCTTATAG... | TGTGTCAATTTACAGAGTGCTTTCATATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGACAGTTAAGTGGTTAAGTGACAATATCAAGACTAAAGTCCAAATCTTCTTAATCCCAGTCTTATGTTTTTGATTTGCATATTCCTATATTACTTCAGAAGGCTGAAGGCACAGGGAATCAGATTTATGCCTAATATAAAGAAACTCTAAAAATCACAGCTGTTGAACAGTGAAATAGGCTGTCTTATAGTCTTATAG... |
Task1_train_30946 | This alteration in DCX (doublecortin) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Ectopic tissue | ATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGACAGTTAAGTGGTTAAGTGACAATATCAAGACTAAAGTCCAAATCTTCTTAATCCCAGTCTTATGTTTTTGATTTGCATATTCCTATATTACTTCAGAAGGCTGAAGGCACAGGGAATCAGATTTATGCCTAATATAAAGAAACTCTAAAAATCACAGCTGTTGAACAGTGAAATAGGCTGTCTTATAGTCTTATAGAGTGATTGTAGAGGATATCCATGCCT... | ATCCATTATTTGATTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGACAGTTAAGTGGTTAAGTGACAATATCAAGACTAAAGTCCAAATCTTCTTAATCCCAGTCTTATGTTTTTGATTTGCATATTCCTATATTACTTCAGAAGGCTGAAGGCACAGGGAATCAGATTTATGCCTAATATAAAGAAACTCTAAAAATCACAGCTGTTGAACAGTGAAATAGGCTGTCTTATAGTCTTATAGAGTGATTGTAGAGGATATCCATGCCT... |
Task1_train_30947 | A variant has been detected on Chromosome X in DCX (doublecortin). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Subcortical laminar heterotopia, X-linked | TTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGACAGTTAAGTGGTTAAGTGACAATATCAAGACTAAAGTCCAAATCTTCTTAATCCCAGTCTTATGTTTTTGATTTGCATATTCCTATATTACTTCAGAAGGCTGAAGGCACAGGGAATCAGATTTATGCCTAATATAAAGAAACTCTAAAAATCACAGCTGTTGAACAGTGAAATAGGCTGTCTTATAGTCTTATAGAGTGATTGTAGAGGATATCCATGCCTTAGGTGGAAGATT... | TTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGACAGTTAAGTGGTTAAGTGACAATATCAAGACTAAAGTCCAAATCTTCTTAATCCCAGTCTTATGTTTTTGATTTGCATATTCCTATATTACTTCAGAAGGCTGAAGGCACAGGGAATCAGATTTATGCCTAATATAAAGAAACTCTAAAAATCACAGCTGTTGAACAGTGAAATAGGCTGTCTTATAGTCTTATAGAGTGATTGTAGAGGATATCCATGCCTTAGGTGGAAGATT... |
Task1_train_30948 | This variant impacts the gene DCX (doublecortin) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Lissencephaly type 1 due to doublecortin gene mutation | TTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGACAGTTAAGTGGTTAAGTGACAATATCAAGACTAAAGTCCAAATCTTCTTAATCCCAGTCTTATGTTTTTGATTTGCATATTCCTATATTACTTCAGAAGGCTGAAGGCACAGGGAATCAGATTTATGCCTAATATAAAGAAACTCTAAAAATCACAGCTGTTGAACAGTGAAATAGGCTGTCTTATAGTCTTATAGAGTGATTGTAGAGGATATCCATGCCTTAGGTGGAAGATT... | TTTAATCCTCATAAGAGTCCTGTGAGCATGCTCAGGGCAGGTGTGATCAGTCCTTTTGTACAGAGAAGGAGTGTGAGGTTCAGGACAGTTAAGTGGTTAAGTGACAATATCAAGACTAAAGTCCAAATCTTCTTAATCCCAGTCTTATGTTTTTGATTTGCATATTCCTATATTACTTCAGAAGGCTGAAGGCACAGGGAATCAGATTTATGCCTAATATAAAGAAACTCTAAAAATCACAGCTGTTGAACAGTGAAATAGGCTGTCTTATAGTCTTATAGAGTGATTGTAGAGGATATCCATGCCTTAGGTGGAAGATT... |
Task1_train_30949 | A sequence alteration has been identified in DCX (doublecortin) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Ectopic tissue | TGCTTTGTCTGTGAAAGTTGTTACAGAGAAATCCCTGAAATTTGACTGAGATGTGGATTTTACAGTGACAAAAGACAGACACCCTAACAATTACTCTGTTGGACAGCTCCCTCGACCTAGCTTCAAACCCTTCAAAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCAC... | TGCTTTGTCTGTGAAAGTTGTTACAGAGAAATCCCTGAAATTTGACTGAGATGTGGATTTTACAGTGACAAAAGACAGACACCCTAACAATTACTCTGTTGGACAGCTCCCTCGACCTAGCTTCAAACCCTTCAAAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCAC... |
Task1_train_30950 | This variant lies on Chromosome X and affects the gene DCX (doublecortin). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Ectopic tissue | GTCTGTGAAAGTTGTTACAGAGAAATCCCTGAAATTTGACTGAGATGTGGATTTTACAGTGACAAAAGACAGACACCCTAACAATTACTCTGTTGGACAGCTCCCTCGACCTAGCTTCAAACCCTTCAAAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGT... | GTCTGTGAAAGTTGTTACAGAGAAATCCCTGAAATTTGACTGAGATGTGGATTTTACAGTGACAAAAGACAGACACCCTAACAATTACTCTGTTGGACAGCTCCCTCGACCTAGCTTCAAACCCTTCAAAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGT... |
Task1_train_30951 | Here is a variant affecting DCX (doublecortin) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | GTCTGTGAAAGTTGTTACAGAGAAATCCCTGAAATTTGACTGAGATGTGGATTTTACAGTGACAAAAGACAGACACCCTAACAATTACTCTGTTGGACAGCTCCCTCGACCTAGCTTCAAACCCTTCAAAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGT... | GTCTGTGAAAGTTGTTACAGAGAAATCCCTGAAATTTGACTGAGATGTGGATTTTACAGTGACAAAAGACAGACACCCTAACAATTACTCTGTTGGACAGCTCCCTCGACCTAGCTTCAAACCCTTCAAAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGT... |
Task1_train_30952 | This sequence change occurs on Chromosome X, altering DCX (doublecortin). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Lissencephaly type 1 due to doublecortin gene mutation | GTCTGTGAAAGTTGTTACAGAGAAATCCCTGAAATTTGACTGAGATGTGGATTTTACAGTGACAAAAGACAGACACCCTAACAATTACTCTGTTGGACAGCTCCCTCGACCTAGCTTCAAACCCTTCAAAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGT... | GTCTGTGAAAGTTGTTACAGAGAAATCCCTGAAATTTGACTGAGATGTGGATTTTACAGTGACAAAAGACAGACACCCTAACAATTACTCTGTTGGACAGCTCCCTCGACCTAGCTTCAAACCCTTCAAAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGT... |
Task1_train_30953 | The gene DCX (doublecortin) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Ectopic tissue | TGTGAAAGTTGTTACAGAGAAATCCCTGAAATTTGACTGAGATGTGGATTTTACAGTGACAAAAGACAGACACCCTAACAATTACTCTGTTGGACAGCTCCCTCGACCTAGCTTCAAACCCTTCAAAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAAT... | TGTGAAAGTTGTTACAGAGAAATCCCTGAAATTTGACTGAGATGTGGATTTTACAGTGACAAAAGACAGACACCCTAACAATTACTCTGTTGGACAGCTCCCTCGACCTAGCTTCAAACCCTTCAAAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAAT... |
Task1_train_30954 | Given a variant located on Chromosome X and affecting DCX (doublecortin), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Ectopic tissue | TGAAAGTTGTTACAGAGAAATCCCTGAAATTTGACTGAGATGTGGATTTTACAGTGACAAAAGACAGACACCCTAACAATTACTCTGTTGGACAGCTCCCTCGACCTAGCTTCAAACCCTTCAAAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCC... | TGAAAGTTGTTACAGAGAAATCCCTGAAATTTGACTGAGATGTGGATTTTACAGTGACAAAAGACAGACACCCTAACAATTACTCTGTTGGACAGCTCCCTCGACCTAGCTTCAAACCCTTCAAAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCC... |
Task1_train_30955 | This mutation is located in gene DCX (doublecortin) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Ectopic tissue | TTACAGAGAAATCCCTGAAATTTGACTGAGATGTGGATTTTACAGTGACAAAAGACAGACACCCTAACAATTACTCTGTTGGACAGCTCCCTCGACCTAGCTTCAAACCCTTCAAAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTT... | TTACAGAGAAATCCCTGAAATTTGACTGAGATGTGGATTTTACAGTGACAAAAGACAGACACCCTAACAATTACTCTGTTGGACAGCTCCCTCGACCTAGCTTCAAACCCTTCAAAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTT... |
Task1_train_30956 | A mutation on Chromosome X affecting DCX (doublecortin) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Abnormal cortical gyration | ATCCCTGAAATTTGACTGAGATGTGGATTTTACAGTGACAAAAGACAGACACCCTAACAATTACTCTGTTGGACAGCTCCCTCGACCTAGCTTCAAACCCTTCAAAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAA... | ATCCCTGAAATTTGACTGAGATGTGGATTTTACAGTGACAAAAGACAGACACCCTAACAATTACTCTGTTGGACAGCTCCCTCGACCTAGCTTCAAACCCTTCAAAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAA... |
Task1_train_30957 | The gene DCX (doublecortin) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Ectopic tissue | AATTTGACTGAGATGTGGATTTTACAGTGACAAAAGACAGACACCCTAACAATTACTCTGTTGGACAGCTCCCTCGACCTAGCTTCAAACCCTTCAAAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTG... | AATTTGACTGAGATGTGGATTTTACAGTGACAAAAGACAGACACCCTAACAATTACTCTGTTGGACAGCTCCCTCGACCTAGCTTCAAACCCTTCAAAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTG... |
Task1_train_30958 | A variant affecting Chromosome X, within the gene DCX (doublecortin), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Ectopic tissue | ACTGAGATGTGGATTTTACAGTGACAAAAGACAGACACCCTAACAATTACTCTGTTGGACAGCTCCCTCGACCTAGCTTCAAACCCTTCAAAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCCT... | ACTGAGATGTGGATTTTACAGTGACAAAAGACAGACACCCTAACAATTACTCTGTTGGACAGCTCCCTCGACCTAGCTTCAAACCCTTCAAAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCCT... |
Task1_train_30959 | Assess the clinical impact of this variant on gene DCX (doublecortin), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Lissencephaly type 1 due to doublecortin gene mutation | ACTGAGATGTGGATTTTACAGTGACAAAAGACAGACACCCTAACAATTACTCTGTTGGACAGCTCCCTCGACCTAGCTTCAAACCCTTCAAAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCCT... | ACTGAGATGTGGATTTTACAGTGACAAAAGACAGACACCCTAACAATTACTCTGTTGGACAGCTCCCTCGACCTAGCTTCAAACCCTTCAAAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCCT... |
Task1_train_30960 | This variant affects gene DCX (doublecortin) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; Subcortical laminar heterotopia, X-linked | CTGAGATGTGGATTTTACAGTGACAAAAGACAGACACCCTAACAATTACTCTGTTGGACAGCTCCCTCGACCTAGCTTCAAACCCTTCAAAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCCTG... | CTGAGATGTGGATTTTACAGTGACAAAAGACAGACACCCTAACAATTACTCTGTTGGACAGCTCCCTCGACCTAGCTTCAAACCCTTCAAAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCCTG... |
Task1_train_30961 | The gene DCX (doublecortin) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Lissencephaly type 1 due to doublecortin gene mutation | GACACCCTAACAATTACTCTGTTGGACAGCTCCCTCGACCTAGCTTCAAACCCTTCAAAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCCTGAGGTCGGGAGTTCAAGGCCAGCCTGACTAACA... | GACACCCTAACAATTACTCTGTTGGACAGCTCCCTCGACCTAGCTTCAAACCCTTCAAAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCCTGAGGTCGGGAGTTCAAGGCCAGCCTGACTAACA... |
Task1_train_30962 | Located on Chromosome X, this mutation impacts DCX (doublecortin). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Ectopic tissue | GACACCCTAACAATTACTCTGTTGGACAGCTCCCTCGACCTAGCTTCAAACCCTTCAAAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCCTGAGGTCGGGAGTTCAAGGCCAGCCTGACTAACA... | GACACCCTAACAATTACTCTGTTGGACAGCTCCCTCGACCTAGCTTCAAACCCTTCAAAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCCTGAGGTCGGGAGTTCAAGGCCAGCCTGACTAACA... |
Task1_train_30963 | A variant affecting Chromosome X, within the gene DCX (doublecortin), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | GACACCCTAACAATTACTCTGTTGGACAGCTCCCTCGACCTAGCTTCAAACCCTTCAAAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCCTGAGGTCGGGAGTTCAAGGCCAGCCTGACTAACA... | GACACCCTAACAATTACTCTGTTGGACAGCTCCCTCGACCTAGCTTCAAACCCTTCAAAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCCTGAGGTCGGGAGTTCAAGGCCAGCCTGACTAACA... |
Task1_train_30964 | A mutation on Chromosome X affecting DCX (doublecortin) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Ectopic tissue | ACACCCTAACAATTACTCTGTTGGACAGCTCCCTCGACCTAGCTTCAAACCCTTCAAAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCCTGAGGTCGGGAGTTCAAGGCCAGCCTGACTAACAT... | ACACCCTAACAATTACTCTGTTGGACAGCTCCCTCGACCTAGCTTCAAACCCTTCAAAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCCTGAGGTCGGGAGTTCAAGGCCAGCCTGACTAACAT... |
Task1_train_30965 | The following genetic variant occurs in DCX (doublecortin) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Lissencephaly type 1 due to doublecortin gene mutation | TAACAATTACTCTGTTGGACAGCTCCCTCGACCTAGCTTCAAACCCTTCAAAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCCTGAGGTCGGGAGTTCAAGGCCAGCCTGACTAACATGGAGAA... | TAACAATTACTCTGTTGGACAGCTCCCTCGACCTAGCTTCAAACCCTTCAAAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCCTGAGGTCGGGAGTTCAAGGCCAGCCTGACTAACATGGAGAA... |
Task1_train_30966 | The variant affects gene DCX (doublecortin), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Ectopic tissue | ACTCTGTTGGACAGCTCCCTCGACCTAGCTTCAAACCCTTCAAAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCCTGAGGTCGGGAGTTCAAGGCCAGCCTGACTAACATGGAGAAACCCCACC... | ACTCTGTTGGACAGCTCCCTCGACCTAGCTTCAAACCCTTCAAAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCCTGAGGTCGGGAGTTCAAGGCCAGCCTGACTAACATGGAGAAACCCCACC... |
Task1_train_30967 | A genetic alteration is present in DCX (doublecortin) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Lissencephaly type 1 due to doublecortin gene mutation | TGGACAGCTCCCTCGACCTAGCTTCAAACCCTTCAAAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCCTGAGGTCGGGAGTTCAAGGCCAGCCTGACTAACATGGAGAAACCCCACCTCTACTA... | TGGACAGCTCCCTCGACCTAGCTTCAAACCCTTCAAAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCCTGAGGTCGGGAGTTCAAGGCCAGCCTGACTAACATGGAGAAACCCCACCTCTACTA... |
Task1_train_30968 | A variant affecting Chromosome X, within the gene DCX (doublecortin), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Subcortical laminar heterotopia, X-linked | TGGACAGCTCCCTCGACCTAGCTTCAAACCCTTCAAAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCCTGAGGTCGGGAGTTCAAGGCCAGCCTGACTAACATGGAGAAACCCCACCTCTACTA... | TGGACAGCTCCCTCGACCTAGCTTCAAACCCTTCAAAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCCTGAGGTCGGGAGTTCAAGGCCAGCCTGACTAACATGGAGAAACCCCACCTCTACTA... |
Task1_train_30969 | Chromosome X houses a mutation in gene DCX (doublecortin). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Ectopic tissue | CCTTCAAAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCCTGAGGTCGGGAGTTCAAGGCCAGCCTGACTAACATGGAGAAACCCCACCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGC... | CCTTCAAAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCCTGAGGTCGGGAGTTCAAGGCCAGCCTGACTAACATGGAGAAACCCCACCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGC... |
Task1_train_30970 | This gene mutation involves DCX (doublecortin) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Subcortical laminar heterotopia, X-linked | AAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCCTGAGGTCGGGAGTTCAAGGCCAGCCTGACTAACATGGAGAAACCCCACCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCACATGC... | AAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCCTGAGGTCGGGAGTTCAAGGCCAGCCTGACTAACATGGAGAAACCCCACCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCACATGC... |
Task1_train_30971 | Here’s a variant in DCX (doublecortin) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Lissencephaly type 1 due to doublecortin gene mutation | AAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCCTGAGGTCGGGAGTTCAAGGCCAGCCTGACTAACATGGAGAAACCCCACCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCACATGC... | AAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCCTGAGGTCGGGAGTTCAAGGCCAGCCTGACTAACATGGAGAAACCCCACCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCACATGC... |
Task1_train_30972 | This genomic variant is located on Chromosome X, within the DCX (doublecortin) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Ectopic tissue | AAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCCTGAGGTCGGGAGTTCAAGGCCAGCCTGACTAACATGGAGAAACCCCACCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCACATGC... | AAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCCTGAGGTCGGGAGTTCAAGGCCAGCCTGACTAACATGGAGAAACCCCACCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCACATGC... |
Task1_train_30973 | A mutation on Chromosome X affecting DCX (doublecortin) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Lissencephaly type 1 due to doublecortin gene mutation | AAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCCTGAGGTCGGGAGTTCAAGGCCAGCCTGACTAACATGGAGAAACCCCACCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCACATGC... | AAGTTGCCGTGACTCTCCTTTATTTTAAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCCTGAGGTCGGGAGTTCAAGGCCAGCCTGACTAACATGGAGAAACCCCACCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCACATGC... |
Task1_train_30974 | A change on Chromosome X affects gene DCX (doublecortin). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Ectopic tissue | AAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCCTGAGGTCGGGAGTTCAAGGCCAGCCTGACTAACATGGAGAAACCCCACCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCTCAGCTACTTGGGAGGCT... | AAGACATGCTCCAGGATGGCCAGTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCCTGAGGTCGGGAGTTCAAGGCCAGCCTGACTAACATGGAGAAACCCCACCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCTCAGCTACTTGGGAGGCT... |
Task1_train_30975 | A variant affecting Chromosome X, within the gene DCX (doublecortin), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Ectopic tissue | GTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCCTGAGGTCGGGAGTTCAAGGCCAGCCTGACTAACATGGAGAAACCCCACCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGGCAGAGGTTGTG... | GTCCTTTGATGGTCAGGAAGGGCCTAGGATTAACCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCCTGAGGTCGGGAGTTCAAGGCCAGCCTGACTAACATGGAGAAACCCCACCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGGCAGAGGTTGTG... |
Task1_train_30976 | Here is a genetic alteration in DCX (doublecortin) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Ectopic tissue | CCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCCTGAGGTCGGGAGTTCAAGGCCAGCCTGACTAACATGGAGAAACCCCACCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGGCAGAGGTTGTGGTGAGCCAAGATCATGCCATTGCACTCCAGCCT... | CCACTGCCTGTCCATTGAACACATGATGAAATAATCTAAGCTTCCTGGGCATTGGTTTTCAAGGTCAGCTATGTAGAAAGATCTCGGCCAGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCCTGAGGTCGGGAGTTCAAGGCCAGCCTGACTAACATGGAGAAACCCCACCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGGCAGAGGTTGTGGTGAGCCAAGATCATGCCATTGCACTCCAGCCT... |
Task1_train_30977 | The gene DCX (doublecortin) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Ectopic tissue | ACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCCTGAGGTCGGGAGTTCAAGGCCAGCCTGACTAACATGGAGAAACCCCACCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGGCAGAGGTTGTGGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA... | ACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCCTGAGGTCGGGAGTTCAAGGCCAGCCTGACTAACATGGAGAAACCCCACCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGGCAGAGGTTGTGGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA... |
Task1_train_30978 | A genomic change on Chromosome X affects ALG13 (ALG13 UDP-N-acetylglucosaminyltransferase subunit). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Developmental and epileptic encephalopathy, 36 | GACTGCTTGAGCCCAGGAGTTAGAATCAAGCCTGGGCAACAGAGCAAGACCCCATACCTTATAAGATGCCTTTTATTTTTAGTTTTTTTATTTTTTCGAGACGGGGTCTCACTGTCGTCCAGGCTGCAGTGCAGTGGTGTGATCATGGCTCACTGCAGCCTCAGCCTTCTGACTAGCTAGGAACACAGGTGGGTGCTCCCACCCCCGGCTAATTAAATTTTTTTTGTTTGTTTGAGACAGGGTCTCATTCTGTGTCACCCAGGCTGGAGTGCAATGGCAGGATCTTGGGCTCACTGAAACCTCTGTCTCCTGGGCTCAAG... | GACTGCTTGAGCCCAGGAGTTAGAATCAAGCCTGGGCAACAGAGCAAGACCCCATACCTTATAAGATGCCTTTTATTTTTAGTTTTTTTATTTTTTCGAGACGGGGTCTCACTGTCGTCCAGGCTGCAGTGCAGTGGTGTGATCATGGCTCACTGCAGCCTCAGCCTTCTGACTAGCTAGGAACACAGGTGGGTGCTCCCACCCCCGGCTAATTAAATTTTTTTTGTTTGTTTGAGACAGGGTCTCATTCTGTGTCACCCAGGCTGGAGTGCAATGGCAGGATCTTGGGCTCACTGAAACCTCTGTCTCCTGGGCTCAAG... |
Task1_train_30979 | A mutation found in ALG13 (ALG13 UDP-N-acetylglucosaminyltransferase subunit) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Developmental and epileptic encephalopathy, 36 | TGGGGAGCAATGCAGTTTTGACTGTTGTGAAGAAAGGTGTTTCGTTTTTTCCTTTCTTTTTTTTTTTTAAAGTCTAGTTTGAGGAGAGAAAAGTCTTTAGAAATAGACATTACCAACAGATTCGTGATTAAAAATGTATCTCCTAGGAGGTAACAGAGCCTTTGGCACTGCTCTGAATGCTTTGTGTATATTAACTTTACTTTTTTAAACAATCCTGTGAACTAAGTACTGTTAGTATCTCCATTTTACACATGAGGAAACTGAGACACAAGAGTGGTTAAGTAATTTGTCCAGCCGGGAAGTGGTGGACAGATAACAAT... | TGGGGAGCAATGCAGTTTTGACTGTTGTGAAGAAAGGTGTTTCGTTTTTTCCTTTCTTTTTTTTTTTTAAAGTCTAGTTTGAGGAGAGAAAAGTCTTTAGAAATAGACATTACCAACAGATTCGTGATTAAAAATGTATCTCCTAGGAGGTAACAGAGCCTTTGGCACTGCTCTGAATGCTTTGTGTATATTAACTTTACTTTTTTAAACAATCCTGTGAACTAAGTACTGTTAGTATCTCCATTTTACACATGAGGAAACTGAGACACAAGAGTGGTTAAGTAATTTGTCCAGCCGGGAAGTGGTGGACAGATAACAAT... |
Task1_train_30980 | This gene mutation involves ALG13 (ALG13 UDP-N-acetylglucosaminyltransferase subunit) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Seizure | TTCGTTTTTTCCTTTCTTTTTTTTTTTTAAAGTCTAGTTTGAGGAGAGAAAAGTCTTTAGAAATAGACATTACCAACAGATTCGTGATTAAAAATGTATCTCCTAGGAGGTAACAGAGCCTTTGGCACTGCTCTGAATGCTTTGTGTATATTAACTTTACTTTTTTAAACAATCCTGTGAACTAAGTACTGTTAGTATCTCCATTTTACACATGAGGAAACTGAGACACAAGAGTGGTTAAGTAATTTGTCCAGCCGGGAAGTGGTGGACAGATAACAATCTGGTGCTGGAGTTTATGTTCTTTTTTTCTTTTCTTTTCC... | TTCGTTTTTTCCTTTCTTTTTTTTTTTTAAAGTCTAGTTTGAGGAGAGAAAAGTCTTTAGAAATAGACATTACCAACAGATTCGTGATTAAAAATGTATCTCCTAGGAGGTAACAGAGCCTTTGGCACTGCTCTGAATGCTTTGTGTATATTAACTTTACTTTTTTAAACAATCCTGTGAACTAAGTACTGTTAGTATCTCCATTTTACACATGAGGAAACTGAGACACAAGAGTGGTTAAGTAATTTGTCCAGCCGGGAAGTGGTGGACAGATAACAATCTGGTGCTGGAGTTTATGTTCTTTTTTTCTTTTCTTTTCC... |
Task1_train_30981 | Gene ALG13 (ALG13 UDP-N-acetylglucosaminyltransferase subunit), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Intellectual disability | TTCGTTTTTTCCTTTCTTTTTTTTTTTTAAAGTCTAGTTTGAGGAGAGAAAAGTCTTTAGAAATAGACATTACCAACAGATTCGTGATTAAAAATGTATCTCCTAGGAGGTAACAGAGCCTTTGGCACTGCTCTGAATGCTTTGTGTATATTAACTTTACTTTTTTAAACAATCCTGTGAACTAAGTACTGTTAGTATCTCCATTTTACACATGAGGAAACTGAGACACAAGAGTGGTTAAGTAATTTGTCCAGCCGGGAAGTGGTGGACAGATAACAATCTGGTGCTGGAGTTTATGTTCTTTTTTTCTTTTCTTTTCC... | TTCGTTTTTTCCTTTCTTTTTTTTTTTTAAAGTCTAGTTTGAGGAGAGAAAAGTCTTTAGAAATAGACATTACCAACAGATTCGTGATTAAAAATGTATCTCCTAGGAGGTAACAGAGCCTTTGGCACTGCTCTGAATGCTTTGTGTATATTAACTTTACTTTTTTAAACAATCCTGTGAACTAAGTACTGTTAGTATCTCCATTTTACACATGAGGAAACTGAGACACAAGAGTGGTTAAGTAATTTGTCCAGCCGGGAAGTGGTGGACAGATAACAATCTGGTGCTGGAGTTTATGTTCTTTTTTTCTTTTCTTTTCC... |
Task1_train_30982 | The variant affects gene ALG13 (ALG13 UDP-N-acetylglucosaminyltransferase subunit), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Inborn genetic diseases | TTCGTTTTTTCCTTTCTTTTTTTTTTTTAAAGTCTAGTTTGAGGAGAGAAAAGTCTTTAGAAATAGACATTACCAACAGATTCGTGATTAAAAATGTATCTCCTAGGAGGTAACAGAGCCTTTGGCACTGCTCTGAATGCTTTGTGTATATTAACTTTACTTTTTTAAACAATCCTGTGAACTAAGTACTGTTAGTATCTCCATTTTACACATGAGGAAACTGAGACACAAGAGTGGTTAAGTAATTTGTCCAGCCGGGAAGTGGTGGACAGATAACAATCTGGTGCTGGAGTTTATGTTCTTTTTTTCTTTTCTTTTCC... | TTCGTTTTTTCCTTTCTTTTTTTTTTTTAAAGTCTAGTTTGAGGAGAGAAAAGTCTTTAGAAATAGACATTACCAACAGATTCGTGATTAAAAATGTATCTCCTAGGAGGTAACAGAGCCTTTGGCACTGCTCTGAATGCTTTGTGTATATTAACTTTACTTTTTTAAACAATCCTGTGAACTAAGTACTGTTAGTATCTCCATTTTACACATGAGGAAACTGAGACACAAGAGTGGTTAAGTAATTTGTCCAGCCGGGAAGTGGTGGACAGATAACAATCTGGTGCTGGAGTTTATGTTCTTTTTTTCTTTTCTTTTCC... |
Task1_train_30983 | The gene ALG13 (ALG13 UDP-N-acetylglucosaminyltransferase subunit) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Developmental and epileptic encephalopathy, 36 | TTCGTTTTTTCCTTTCTTTTTTTTTTTTAAAGTCTAGTTTGAGGAGAGAAAAGTCTTTAGAAATAGACATTACCAACAGATTCGTGATTAAAAATGTATCTCCTAGGAGGTAACAGAGCCTTTGGCACTGCTCTGAATGCTTTGTGTATATTAACTTTACTTTTTTAAACAATCCTGTGAACTAAGTACTGTTAGTATCTCCATTTTACACATGAGGAAACTGAGACACAAGAGTGGTTAAGTAATTTGTCCAGCCGGGAAGTGGTGGACAGATAACAATCTGGTGCTGGAGTTTATGTTCTTTTTTTCTTTTCTTTTCC... | TTCGTTTTTTCCTTTCTTTTTTTTTTTTAAAGTCTAGTTTGAGGAGAGAAAAGTCTTTAGAAATAGACATTACCAACAGATTCGTGATTAAAAATGTATCTCCTAGGAGGTAACAGAGCCTTTGGCACTGCTCTGAATGCTTTGTGTATATTAACTTTACTTTTTTAAACAATCCTGTGAACTAAGTACTGTTAGTATCTCCATTTTACACATGAGGAAACTGAGACACAAGAGTGGTTAAGTAATTTGTCCAGCCGGGAAGTGGTGGACAGATAACAATCTGGTGCTGGAGTTTATGTTCTTTTTTTCTTTTCTTTTCC... |
Task1_train_30984 | Consider this mutation in LRCH2 (leucine rich repeats and calponin homology domain containing 2) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; Demyelinating peripheral neuropathy | GAGCCAAACTGGAGCGTCTCAACATTCAGTATGCAACCATTCACTGTTTTCAGTATGCGGTCTCGCTCTTGCTATATAAGCTGTACCTGGAGCCCCTGACTCTGTTTCAATCCCTTTATAGCTTCACTGTCCAATAGGGTACCACTAGCCACATGTGTCTATTTATTTATTTTACTTTAAGTTCTGGGATACATGTGCAAAATGTGCAGGTTTGTTACACAGGTATACATGTGCCATGGTGGTTTGCTGCACCTATCAACCCATCATCTAGGTTTTCAACCCCGCATGTATTAGGTATTTGTCCCAATGCTCTCCCTCCC... | GAGCCAAACTGGAGCGTCTCAACATTCAGTATGCAACCATTCACTGTTTTCAGTATGCGGTCTCGCTCTTGCTATATAAGCTGTACCTGGAGCCCCTGACTCTGTTTCAATCCCTTTATAGCTTCACTGTCCAATAGGGTACCACTAGCCACATGTGTCTATTTATTTATTTTACTTTAAGTTCTGGGATACATGTGCAAAATGTGCAGGTTTGTTACACAGGTATACATGTGCCATGGTGGTTTGCTGCACCTATCAACCCATCATCTAGGTTTTCAACCCCGCATGTATTAGGTATTTGTCCCAATGCTCTCCCTCCC... |
Task1_train_30985 | An alteration has been detected in LRCH2 (leucine rich repeats and calponin homology domain containing 2) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Cerebellar ataxia | GAGCCAAACTGGAGCGTCTCAACATTCAGTATGCAACCATTCACTGTTTTCAGTATGCGGTCTCGCTCTTGCTATATAAGCTGTACCTGGAGCCCCTGACTCTGTTTCAATCCCTTTATAGCTTCACTGTCCAATAGGGTACCACTAGCCACATGTGTCTATTTATTTATTTTACTTTAAGTTCTGGGATACATGTGCAAAATGTGCAGGTTTGTTACACAGGTATACATGTGCCATGGTGGTTTGCTGCACCTATCAACCCATCATCTAGGTTTTCAACCCCGCATGTATTAGGTATTTGTCCCAATGCTCTCCCTCCC... | GAGCCAAACTGGAGCGTCTCAACATTCAGTATGCAACCATTCACTGTTTTCAGTATGCGGTCTCGCTCTTGCTATATAAGCTGTACCTGGAGCCCCTGACTCTGTTTCAATCCCTTTATAGCTTCACTGTCCAATAGGGTACCACTAGCCACATGTGTCTATTTATTTATTTTACTTTAAGTTCTGGGATACATGTGCAAAATGTGCAGGTTTGTTACACAGGTATACATGTGCCATGGTGGTTTGCTGCACCTATCAACCCATCATCTAGGTTTTCAACCCCGCATGTATTAGGTATTTGTCCCAATGCTCTCCCTCCC... |
Task1_train_30986 | The gene PLS3 (plastin 3) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Hernia, anterior diaphragmatic | GACTACAAGCATGCGCCACTATGCCTAGCTAATTTTTTTTTTAACTTTTTGCAGAGATGGGGTTTCACCATCTTGCTTAGGCTAGACTTGAACTCTTGAGCTCAAGCAATCTGCCTGCCTTGGCCTCCCAAATTGCTAGGGTTACAGGCGTGAGCCACACTGTACCTGGCCCAAGTTTTGTTTTCAATATCCAAGTTATTTTCTTTCATAAAAGAATGAGAAAAAATTAAAAAAAATTGAAAGAGAAAGCATGCTACAATCCTCTGCTCAGAGATACCCAACTACTATGCACATATTTTGGTCTTTTTGGGTTTTTTTTT... | GACTACAAGCATGCGCCACTATGCCTAGCTAATTTTTTTTTTAACTTTTTGCAGAGATGGGGTTTCACCATCTTGCTTAGGCTAGACTTGAACTCTTGAGCTCAAGCAATCTGCCTGCCTTGGCCTCCCAAATTGCTAGGGTTACAGGCGTGAGCCACACTGTACCTGGCCCAAGTTTTGTTTTCAATATCCAAGTTATTTTCTTTCATAAAAGAATGAGAAAAAATTAAAAAAAATTGAAAGAGAAAGCATGCTACAATCCTCTGCTCAGAGATACCCAACTACTATGCACATATTTTGGTCTTTTTGGGTTTTTTTTT... |
Task1_train_30987 | This sequence change occurs on Chromosome X, altering PLS3 (plastin 3). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hernia, anterior diaphragmatic | AATTCTCCTGCCTCAGCCTCCCGAGTAGCTGCGATTACAGGCGCCCACCACCATGCCCAGCTAGTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTTACGTGGCTAAACCATTTTTATGCTGCCCTTATCAGAACTGAATTTGTAACTGACTTGTGTGCTTATATTTCTGTCTGTATGTTAAATGCAAAACTCTTCAGCTCAGGTCACTCTTGGTAGGGATGAG... | AATTCTCCTGCCTCAGCCTCCCGAGTAGCTGCGATTACAGGCGCCCACCACCATGCCCAGCTAGTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTTACGTGGCTAAACCATTTTTATGCTGCCCTTATCAGAACTGAATTTGTAACTGACTTGTGTGCTTATATTTCTGTCTGTATGTTAAATGCAAAACTCTTCAGCTCAGGTCACTCTTGGTAGGGATGAG... |
Task1_train_30988 | Chromosome X houses a mutation in gene DOCK11 (dedicator of cytokinesis 11). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Autoinflammatory disease, multisystem, with immune dysregulation, X-linked | TTGGCTGTCTCCTGTCTCTGTCAGAGATGGGGTTTCTGCATGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAAGTGATCCGCTCACCTCAGCCACCCAAAGTGCTGGGATTACAGGCGTGAGCCGCCATGCTCAGGCACCTCATCTATTTATGATACCGCCTCCCAAATATTTTCAAATGTATAAATCTTTATGACTTGATACAGCAGTTTAATTTCATCCTTTCGTAGACTTCAAAGATTAGAAGGAGGAACTTTCTTGGTTCCTTCTTGAATAATGACCATGCAGTGGAAAATTATTGATTCATGAGCATTTCTTG... | TTGGCTGTCTCCTGTCTCTGTCAGAGATGGGGTTTCTGCATGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAAGTGATCCGCTCACCTCAGCCACCCAAAGTGCTGGGATTACAGGCGTGAGCCGCCATGCTCAGGCACCTCATCTATTTATGATACCGCCTCCCAAATATTTTCAAATGTATAAATCTTTATGACTTGATACAGCAGTTTAATTTCATCCTTTCGTAGACTTCAAAGATTAGAAGGAGGAACTTTCTTGGTTCCTTCTTGAATAATGACCATGCAGTGGAAAATTATTGATTCATGAGCATTTCTTG... |
Task1_train_30989 | Assess the clinical impact of this variant on gene DOCK11 (dedicator of cytokinesis 11), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; DOCK11 deficiency | TTGGCTGTCTCCTGTCTCTGTCAGAGATGGGGTTTCTGCATGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAAGTGATCCGCTCACCTCAGCCACCCAAAGTGCTGGGATTACAGGCGTGAGCCGCCATGCTCAGGCACCTCATCTATTTATGATACCGCCTCCCAAATATTTTCAAATGTATAAATCTTTATGACTTGATACAGCAGTTTAATTTCATCCTTTCGTAGACTTCAAAGATTAGAAGGAGGAACTTTCTTGGTTCCTTCTTGAATAATGACCATGCAGTGGAAAATTATTGATTCATGAGCATTTCTTG... | TTGGCTGTCTCCTGTCTCTGTCAGAGATGGGGTTTCTGCATGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAAGTGATCCGCTCACCTCAGCCACCCAAAGTGCTGGGATTACAGGCGTGAGCCGCCATGCTCAGGCACCTCATCTATTTATGATACCGCCTCCCAAATATTTTCAAATGTATAAATCTTTATGACTTGATACAGCAGTTTAATTTCATCCTTTCGTAGACTTCAAAGATTAGAAGGAGGAACTTTCTTGGTTCCTTCTTGAATAATGACCATGCAGTGGAAAATTATTGATTCATGAGCATTTCTTG... |
Task1_train_30990 | Here’s a variant in DOCK11 (dedicator of cytokinesis 11) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; DOCK11 deficiency | GGTCTCCCTGCAGAAGTGTCGACTGATCAGAGACTTGGAAATGAGGGAGCAAGCCATACAGCTATCTGAGGGAAGAGGGTTCCTGACAGAGTAGCAAGTGCAAAAGCCCCGGCATGGGAGTGTCCTTGTTGTGCTGGCAAAATAACCAAGGAGGCCAGTGTGGCTGCAAGAGGGAAGAGGGCAATTGTGGTAGGAGATGAGGTCAGAGCAGTGAGAAGAGACAGGGAATCATGCCATGTAGGGCTTTGTAGGCCATAGTACAGACTTGTGACTTTTCCATTGCCCTTAGATCCGAGTTTCATCATCTCCCTCTAGGATTT... | GGTCTCCCTGCAGAAGTGTCGACTGATCAGAGACTTGGAAATGAGGGAGCAAGCCATACAGCTATCTGAGGGAAGAGGGTTCCTGACAGAGTAGCAAGTGCAAAAGCCCCGGCATGGGAGTGTCCTTGTTGTGCTGGCAAAATAACCAAGGAGGCCAGTGTGGCTGCAAGAGGGAAGAGGGCAATTGTGGTAGGAGATGAGGTCAGAGCAGTGAGAAGAGACAGGGAATCATGCCATGTAGGGCTTTGTAGGCCATAGTACAGACTTGTGACTTTTCCATTGCCCTTAGATCCGAGTTTCATCATCTCCCTCTAGGATTT... |
Task1_train_30991 | The gene DOCK11 (dedicator of cytokinesis 11) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Autoinflammatory disease, multisystem, with immune dysregulation, X-linked | GGTCTCCCTGCAGAAGTGTCGACTGATCAGAGACTTGGAAATGAGGGAGCAAGCCATACAGCTATCTGAGGGAAGAGGGTTCCTGACAGAGTAGCAAGTGCAAAAGCCCCGGCATGGGAGTGTCCTTGTTGTGCTGGCAAAATAACCAAGGAGGCCAGTGTGGCTGCAAGAGGGAAGAGGGCAATTGTGGTAGGAGATGAGGTCAGAGCAGTGAGAAGAGACAGGGAATCATGCCATGTAGGGCTTTGTAGGCCATAGTACAGACTTGTGACTTTTCCATTGCCCTTAGATCCGAGTTTCATCATCTCCCTCTAGGATTT... | GGTCTCCCTGCAGAAGTGTCGACTGATCAGAGACTTGGAAATGAGGGAGCAAGCCATACAGCTATCTGAGGGAAGAGGGTTCCTGACAGAGTAGCAAGTGCAAAAGCCCCGGCATGGGAGTGTCCTTGTTGTGCTGGCAAAATAACCAAGGAGGCCAGTGTGGCTGCAAGAGGGAAGAGGGCAATTGTGGTAGGAGATGAGGTCAGAGCAGTGAGAAGAGACAGGGAATCATGCCATGTAGGGCTTTGTAGGCCATAGTACAGACTTGTGACTTTTCCATTGCCCTTAGATCCGAGTTTCATCATCTCCCTCTAGGATTT... |
Task1_train_30992 | Consider a variant on Chromosome X in gene DOCK11 (dedicator of cytokinesis 11). Determine its clinical classification and disease relevance. | Pathogenic; DOCK11 deficiency | GCCTGCATCATGTTTCACAGATTTGGAAATGGGAGGGATGGCCTCGTCGCTCAACAACAGTGCCGTTAAGAAAATGGCGGACTTGCAGTGGATTGGAGCTAGTTCGCTGTGAGGGCGAGCACTTTTACCCCTTTCACAGACCTTCTCCGAAGCTACCTTAGGACATGGGGCGAGGGAGATGGGTGCTCACCGTTGGACGCAAAGTCCCAGGTTTTCGCTGGAGAGGAGGCACCAACTTTTCGGCTAGAAGAGCTAACCCACAGGAGAGGGAGGCCAGCACCCTCAGGCAGTGGCGCAGCAAGCTGCCCTTTGACCGGAGG... | GCCTGCATCATGTTTCACAGATTTGGAAATGGGAGGGATGGCCTCGTCGCTCAACAACAGTGCCGTTAAGAAAATGGCGGACTTGCAGTGGATTGGAGCTAGTTCGCTGTGAGGGCGAGCACTTTTACCCCTTTCACAGACCTTCTCCGAAGCTACCTTAGGACATGGGGCGAGGGAGATGGGTGCTCACCGTTGGACGCAAAGTCCCAGGTTTTCGCTGGAGAGGAGGCACCAACTTTTCGGCTAGAAGAGCTAACCCACAGGAGAGGGAGGCCAGCACCCTCAGGCAGTGGCGCAGCAAGCTGCCCTTTGACCGGAGG... |
Task1_train_30993 | Assess the clinical impact of this variant on gene DOCK11 (dedicator of cytokinesis 11), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Autoinflammatory disease, multisystem, with immune dysregulation, X-linked | GCCTGCATCATGTTTCACAGATTTGGAAATGGGAGGGATGGCCTCGTCGCTCAACAACAGTGCCGTTAAGAAAATGGCGGACTTGCAGTGGATTGGAGCTAGTTCGCTGTGAGGGCGAGCACTTTTACCCCTTTCACAGACCTTCTCCGAAGCTACCTTAGGACATGGGGCGAGGGAGATGGGTGCTCACCGTTGGACGCAAAGTCCCAGGTTTTCGCTGGAGAGGAGGCACCAACTTTTCGGCTAGAAGAGCTAACCCACAGGAGAGGGAGGCCAGCACCCTCAGGCAGTGGCGCAGCAAGCTGCCCTTTGACCGGAGG... | GCCTGCATCATGTTTCACAGATTTGGAAATGGGAGGGATGGCCTCGTCGCTCAACAACAGTGCCGTTAAGAAAATGGCGGACTTGCAGTGGATTGGAGCTAGTTCGCTGTGAGGGCGAGCACTTTTACCCCTTTCACAGACCTTCTCCGAAGCTACCTTAGGACATGGGGCGAGGGAGATGGGTGCTCACCGTTGGACGCAAAGTCCCAGGTTTTCGCTGGAGAGGAGGCACCAACTTTTCGGCTAGAAGAGCTAACCCACAGGAGAGGGAGGCCAGCACCCTCAGGCAGTGGCGCAGCAAGCTGCCCTTTGACCGGAGG... |
Task1_train_30994 | A genetic alteration is present in DOCK11 (dedicator of cytokinesis 11) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; DOCK11 deficiency | TTTTAATGCTATTATTTAAAATGTAGAAATTGCCCCAATTTTTAGTGTGGAAGAACCTTTTAGAGATATTATTGACTATGCTGGCGGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGAGCAGCCTGGGCAACATAGTGAGACCTGATCTCTACAAAAAATAAAACATTAGCTGGGCATGGTGATGTGCACCTGTGGTTCCAGGTACTTGGGAGGCAGAGGTGAGAGAATAATTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCGCGC... | TTTTAATGCTATTATTTAAAATGTAGAAATTGCCCCAATTTTTAGTGTGGAAGAACCTTTTAGAGATATTATTGACTATGCTGGCGGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGAGCAGCCTGGGCAACATAGTGAGACCTGATCTCTACAAAAAATAAAACATTAGCTGGGCATGGTGATGTGCACCTGTGGTTCCAGGTACTTGGGAGGCAGAGGTGAGAGAATAATTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCGCGC... |
Task1_train_30995 | Gene DOCK11 (dedicator of cytokinesis 11), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; DOCK11 deficiency | AGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGAGCAGCCTGGGCAACATAGTGAGACCTGATCTCTACAAAAAATAAAACATTAGCTGGGCATGGTGATGTGCACCTGTGGTTCCAGGTACTTGGGAGGCAGAGGTGAGAGAATAATTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCGCGCATGATCATTCCACTGCCTTCCAGCATGGGTGACAGAGCGAGGTCCTGTGTCAAAAATAAAAAATGACTGATGGAGACCTTTGCTATGATA... | AGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGAGCAGCCTGGGCAACATAGTGAGACCTGATCTCTACAAAAAATAAAACATTAGCTGGGCATGGTGATGTGCACCTGTGGTTCCAGGTACTTGGGAGGCAGAGGTGAGAGAATAATTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCGCGCATGATCATTCCACTGCCTTCCAGCATGGGTGACAGAGCGAGGTCCTGTGTCAAAAATAAAAAATGACTGATGGAGACCTTTGCTATGATA... |
Task1_train_30996 | Here is a mutation in DOCK11 (dedicator of cytokinesis 11) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Autoinflammatory disease, multisystem, with immune dysregulation, X-linked | AGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGAGCAGCCTGGGCAACATAGTGAGACCTGATCTCTACAAAAAATAAAACATTAGCTGGGCATGGTGATGTGCACCTGTGGTTCCAGGTACTTGGGAGGCAGAGGTGAGAGAATAATTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCGCGCATGATCATTCCACTGCCTTCCAGCATGGGTGACAGAGCGAGGTCCTGTGTCAAAAATAAAAAATGACTGATGGAGACCTTTGCTATGATA... | AGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGAGCAGCCTGGGCAACATAGTGAGACCTGATCTCTACAAAAAATAAAACATTAGCTGGGCATGGTGATGTGCACCTGTGGTTCCAGGTACTTGGGAGGCAGAGGTGAGAGAATAATTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCGCGCATGATCATTCCACTGCCTTCCAGCATGGGTGACAGAGCGAGGTCCTGTGTCAAAAATAAAAAATGACTGATGGAGACCTTTGCTATGATA... |
Task1_train_30997 | Consider this mutation in DOCK11 (dedicator of cytokinesis 11) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; DOCK11 deficiency | CACATGAAGGAGCGTGTCCGTTGTTCTGTGAGTGATGCGGAGCCATTGCCAGATTTTAAGAAAGGGAGAGTGGCACGCTCAGGTTTGCATTTTAATCAGAACCCTATGGCAGATGTGTGGAAGATGTATTTGAAAGGGCTAAGACTGGAGGCAGGAAGATAAATTAAGAAAAAACAATAGTGAAATTTTGCACCTTAGCAATGAGAGAAATGGAGAGAAAGGGTCAGATTTGAGAAATATTTAGGAAATAAAACTGGCAGGACTTGGTGATGAACTCATTAGAGAATGAGTAAAGAAAGAGGGTGTAATAGTTGCGTAGA... | CACATGAAGGAGCGTGTCCGTTGTTCTGTGAGTGATGCGGAGCCATTGCCAGATTTTAAGAAAGGGAGAGTGGCACGCTCAGGTTTGCATTTTAATCAGAACCCTATGGCAGATGTGTGGAAGATGTATTTGAAAGGGCTAAGACTGGAGGCAGGAAGATAAATTAAGAAAAAACAATAGTGAAATTTTGCACCTTAGCAATGAGAGAAATGGAGAGAAAGGGTCAGATTTGAGAAATATTTAGGAAATAAAACTGGCAGGACTTGGTGATGAACTCATTAGAGAATGAGTAAAGAAAGAGGGTGTAATAGTTGCGTAGA... |
Task1_train_30998 | Consider a variant on Chromosome X in gene DOCK11 (dedicator of cytokinesis 11). Determine its clinical classification and disease relevance. | Pathogenic; Inborn error of hematopoiesis and immunity with systemic inflammation and normocytic anemia | ATGAAGGAGCGTGTCCGTTGTTCTGTGAGTGATGCGGAGCCATTGCCAGATTTTAAGAAAGGGAGAGTGGCACGCTCAGGTTTGCATTTTAATCAGAACCCTATGGCAGATGTGTGGAAGATGTATTTGAAAGGGCTAAGACTGGAGGCAGGAAGATAAATTAAGAAAAAACAATAGTGAAATTTTGCACCTTAGCAATGAGAGAAATGGAGAGAAAGGGTCAGATTTGAGAAATATTTAGGAAATAAAACTGGCAGGACTTGGTGATGAACTCATTAGAGAATGAGTAAAGAAAGAGGGTGTAATAGTTGCGTAGATAT... | ATGAAGGAGCGTGTCCGTTGTTCTGTGAGTGATGCGGAGCCATTGCCAGATTTTAAGAAAGGGAGAGTGGCACGCTCAGGTTTGCATTTTAATCAGAACCCTATGGCAGATGTGTGGAAGATGTATTTGAAAGGGCTAAGACTGGAGGCAGGAAGATAAATTAAGAAAAAACAATAGTGAAATTTTGCACCTTAGCAATGAGAGAAATGGAGAGAAAGGGTCAGATTTGAGAAATATTTAGGAAATAAAACTGGCAGGACTTGGTGATGAACTCATTAGAGAATGAGTAAAGAAAGAGGGTGTAATAGTTGCGTAGATAT... |
Task1_train_30999 | Here’s a variant in DOCK11 (dedicator of cytokinesis 11) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Autoinflammatory disease, multisystem, with immune dysregulation, X-linked | CCACACCTGGCTAATTTTTGTATTTTTAGTAGAGCTGGGGTTCCACCATGTTGGCCAGGATGGTCTCGAACTCCTAACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCACGCCTGGCCGCTTTTAATTTTTTTCGAGACAGGGTCTGGCTCTGTCGCCCAGGCTGGAGTGCTGTGGCACGATCACAGCTCACGGCAGCCTTGACCTCCTGTGCTCAAGCGATCCTCCCACCTCAGCCTCTTGAGTAGCTGGGACTACAGGTGTGCACCACCACACCTGGCTTATTTTTGTT... | CCACACCTGGCTAATTTTTGTATTTTTAGTAGAGCTGGGGTTCCACCATGTTGGCCAGGATGGTCTCGAACTCCTAACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCACGCCTGGCCGCTTTTAATTTTTTTCGAGACAGGGTCTGGCTCTGTCGCCCAGGCTGGAGTGCTGTGGCACGATCACAGCTCACGGCAGCCTTGACCTCCTGTGCTCAAGCGATCCTCCCACCTCAGCCTCTTGAGTAGCTGGGACTACAGGTGTGCACCACCACACCTGGCTTATTTTTGTT... |
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