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_27700 | Here is a variant affecting PRNP (prion protein (Kanno blood group)) on Chromosome 20. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Gerstmann-Straussler-Scheinker syndrome | AGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAG... | AGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAG... |
Task1_train_27701 | An alteration has been detected in PRNP (prion protein (Kanno blood group)) on Chromosome 20. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Fatal familial insomnia | AGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAG... | AGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAG... |
Task1_train_27702 | Mutation context: Chromosome 20, Gene PRNP (prion protein (Kanno blood group)). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Inherited Creutzfeldt-Jakob disease | AGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAG... | AGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAG... |
Task1_train_27703 | A variant found in Chromosome 20 affects PRNP (prion protein (Kanno blood group)). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Kuru, susceptibility to | AGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAG... | AGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAG... |
Task1_train_27704 | A variant was discovered in gene PRNP (prion protein (Kanno blood group)), Chromosome 20. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Inherited Creutzfeldt-Jakob disease | AGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATC... | AGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATC... |
Task1_train_27705 | A genetic alteration is present in PROKR2 (prokineticin receptor 2) on Chromosome 20. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hypogonadotropic hypogonadism 3 with or without anosmia | CAGTTACCACAAATGTATAATACAAACAGATTCAGAAGTGATATTTATGCAGCACTAGGGTGCTATTTTGCAACATGCAGGGAGGACTGTCAACACTTCTAAGACCGCAGGGATGCTGAGAGTCTTGGGGTCACTGAGAATCTGAGGTTAAATTTCCCAGATTATAACCAAGAACAGGGATCCCTTTTTGGCCCACTGTAGACAAGGTACACTGTGAAGTCTTCAGGAGTCTTTCATCCAAAGAACAGGGATGAAAAAGTGTGGGTATTTCTCTAATAAATCACAGTGGATGGGGTTTCCAAATAAACTCCCTCCAAATA... | CAGTTACCACAAATGTATAATACAAACAGATTCAGAAGTGATATTTATGCAGCACTAGGGTGCTATTTTGCAACATGCAGGGAGGACTGTCAACACTTCTAAGACCGCAGGGATGCTGAGAGTCTTGGGGTCACTGAGAATCTGAGGTTAAATTTCCCAGATTATAACCAAGAACAGGGATCCCTTTTTGGCCCACTGTAGACAAGGTACACTGTGAAGTCTTCAGGAGTCTTTCATCCAAAGAACAGGGATGAAAAAGTGTGGGTATTTCTCTAATAAATCACAGTGGATGGGGTTTCCAAATAAACTCCCTCCAAATA... |
Task1_train_27706 | A mutation in PROKR2 (prokineticin receptor 2), located on Chromosome 20, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hypogonadotropic hypogonadism 3 with or without anosmia | AGAAAACATCATGAATTTAGGACTTGAGTCTTAGAGTTAGGACCTGAACCCAGGTCTTTGGATTCTAGGTAGAGTTCCTTTTGTAAAAGAGGGAGTGTTCTAGAAAGTGGTCCAGTCCTTAGCAAAATGCCCACAGAGATTATGTTCATTGCCAGTGGCAACCTCCACTTTTTTCTCTGTCCTCTTTCCCCCTGACCCCAGAGCCACTGAAATCCTTTGCACTGAGGAGGCAAAAATTGACACCTCAGGATTACCCATCTCCACCCAAATAAAATGATAAGCTTTCAAGCATCAGTGGGAAAGTGATTTTTAGGTTCTTT... | AGAAAACATCATGAATTTAGGACTTGAGTCTTAGAGTTAGGACCTGAACCCAGGTCTTTGGATTCTAGGTAGAGTTCCTTTTGTAAAAGAGGGAGTGTTCTAGAAAGTGGTCCAGTCCTTAGCAAAATGCCCACAGAGATTATGTTCATTGCCAGTGGCAACCTCCACTTTTTTCTCTGTCCTCTTTCCCCCTGACCCCAGAGCCACTGAAATCCTTTGCACTGAGGAGGCAAAAATTGACACCTCAGGATTACCCATCTCCACCCAAATAAAATGATAAGCTTTCAAGCATCAGTGGGAAAGTGATTTTTAGGTTCTTT... |
Task1_train_27707 | This alteration occurs within gene PROKR2 (prokineticin receptor 2) located on Chromosome 20. Is it associated with a disease or is it a benign variant? | Pathogenic; Hypogonadotropic hypogonadism 3 with or without anosmia | GAACCCTGACTAATATACTCTCACTTTAGTGAGCATCAGAATCACTCAAGGAATTAGATAAAAATGCAGATTCCTGGGACCTTGCCCAAGGGATTCCCACTCAAGAGGGTGGGGTGGAGCCCAGGAATCTGACTTTGTATCTTTTGAGACAGAGTTTCGCTCTTGTTACCCAGGCTGGAGTGCAATGGTGCAGTCTTGGCTCACGGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCAACTAATTTTTGTATTTTTAGTAGAGAAGGG... | GAACCCTGACTAATATACTCTCACTTTAGTGAGCATCAGAATCACTCAAGGAATTAGATAAAAATGCAGATTCCTGGGACCTTGCCCAAGGGATTCCCACTCAAGAGGGTGGGGTGGAGCCCAGGAATCTGACTTTGTATCTTTTGAGACAGAGTTTCGCTCTTGTTACCCAGGCTGGAGTGCAATGGTGCAGTCTTGGCTCACGGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCAACTAATTTTTGTATTTTTAGTAGAGAAGGG... |
Task1_train_27708 | Mutation context: Chromosome 20, Gene MCM8 (minichromosome maintenance 8 homologous recombination repair factor). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Premature ovarian failure 10 | TTCCCGTCTCTAAAGTGCCTTCAATTGGCAGAATTTAAAGAGAATCTGAGACATGTAGGGTACAGATCTGAATTATAGCATCGCAGAGCAGGAAGTAGAACAGTGGGCCTGAAATCAAGGGACAATAACAAATACAGCTTTGTGTAGAAACACAGGTAAGGAATCTCCCTTTGATAATTAGGAATACCAATTAACCTACATCAGTCTGTATAGGTGCAGGGAACTGTCTTTTTTGTGCTGTTAAAATACCCATTTGTTTCTTATGTCTCATGAGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCATACTTTTTA... | TTCCCGTCTCTAAAGTGCCTTCAATTGGCAGAATTTAAAGAGAATCTGAGACATGTAGGGTACAGATCTGAATTATAGCATCGCAGAGCAGGAAGTAGAACAGTGGGCCTGAAATCAAGGGACAATAACAAATACAGCTTTGTGTAGAAACACAGGTAAGGAATCTCCCTTTGATAATTAGGAATACCAATTAACCTACATCAGTCTGTATAGGTGCAGGGAACTGTCTTTTTTGTGCTGTTAAAATACCCATTTGTTTCTTATGTCTCATGAGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCATACTTTTTA... |
Task1_train_27709 | The gene MCM8 (minichromosome maintenance 8 homologous recombination repair factor) on Chromosome 20 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Premature ovarian failure 10 | AAAGAGAATCTGAGACATGTAGGGTACAGATCTGAATTATAGCATCGCAGAGCAGGAAGTAGAACAGTGGGCCTGAAATCAAGGGACAATAACAAATACAGCTTTGTGTAGAAACACAGGTAAGGAATCTCCCTTTGATAATTAGGAATACCAATTAACCTACATCAGTCTGTATAGGTGCAGGGAACTGTCTTTTTTGTGCTGTTAAAATACCCATTTGTTTCTTATGTCTCATGAGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCATACTTTTTATTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAG... | AAAGAGAATCTGAGACATGTAGGGTACAGATCTGAATTATAGCATCGCAGAGCAGGAAGTAGAACAGTGGGCCTGAAATCAAGGGACAATAACAAATACAGCTTTGTGTAGAAACACAGGTAAGGAATCTCCCTTTGATAATTAGGAATACCAATTAACCTACATCAGTCTGTATAGGTGCAGGGAACTGTCTTTTTTGTGCTGTTAAAATACCCATTTGTTTCTTATGTCTCATGAGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCATACTTTTTATTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAG... |
Task1_train_27710 | A variant affecting Chromosome 20, within the gene CRLS1 (cardiolipin synthase 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Combined oxidative phosphorylation deficiency 57 | TGATCAGTATTTGACTTATTCTCTACCATAGTATGGTCAACAGACTTATCTTTTTTCTTTGGACTCTGAAACACTCTGATATTTGAACTTGAATTTGGGATGTATTCCAAGAATGTTTTCATTGTATAATGTGGATTACTTTCAGTAAAAGATCTCAGAGTAGAGGTTTGTATTGCTTCTTGTTTTGTGATTGCTCTTCGGATAATTTGAAGTTTTTCTATAGCTTTCAATGACAGTATTCTGCCACCTGACCCCAGCAATAACTATTTAATTATCCCTCCAAGCTGAGGTGCTTTCTTGCTGGGTTTCTTTTATAAACA... | TGATCAGTATTTGACTTATTCTCTACCATAGTATGGTCAACAGACTTATCTTTTTTCTTTGGACTCTGAAACACTCTGATATTTGAACTTGAATTTGGGATGTATTCCAAGAATGTTTTCATTGTATAATGTGGATTACTTTCAGTAAAAGATCTCAGAGTAGAGGTTTGTATTGCTTCTTGTTTTGTGATTGCTCTTCGGATAATTTGAAGTTTTTCTATAGCTTTCAATGACAGTATTCTGCCACCTGACCCCAGCAATAACTATTTAATTATCCCTCCAAGCTGAGGTGCTTTCTTGCTGGGTTTCTTTTATAAACA... |
Task1_train_27711 | A variant was discovered in gene CRLS1 (cardiolipin synthase 1), Chromosome 20. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Combined oxidative phosphorylation deficiency 57 | GATCAGGTAGAAAGATTAAATGAAAGGGAGAGATGGATGATGCAAGGGGAGATGGGGAAGAAGGGAGGCAGGTCACAGAAGGTGAGAGGGCATGGGAACGGATGAAGGAAGGCAGAGAGAATGAATGGATGCAGGTAGGTGGGGGATTTGATGATGGGAATATGAGGATGGGCTGACTACGGTTTTCTTTTTCCTTAAGGAAAATACAGACATGACCATGAGCGAGAGGGATGGAGTTAGGTCTGAGGTGAGAGCAGAGACAGTGTGGAAGAGACAGTGTGAAAAGAGAGGGTAAATATGGTAAACAAGTGTGGGATTGC... | GATCAGGTAGAAAGATTAAATGAAAGGGAGAGATGGATGATGCAAGGGGAGATGGGGAAGAAGGGAGGCAGGTCACAGAAGGTGAGAGGGCATGGGAACGGATGAAGGAAGGCAGAGAGAATGAATGGATGCAGGTAGGTGGGGGATTTGATGATGGGAATATGAGGATGGGCTGACTACGGTTTTCTTTTTCCTTAAGGAAAATACAGACATGACCATGAGCGAGAGGGATGGAGTTAGGTCTGAGGTGAGAGCAGAGACAGTGTGGAAGAGACAGTGTGAAAAGAGAGGGTAAATATGGTAAACAAGTGTGGGATTGC... |
Task1_train_27712 | Assess the clinical impact of this variant on gene CRLS1 (cardiolipin synthase 1), found on Chromosome 20. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Combined oxidative phosphorylation deficiency 57 | TTCCATGCATACTATACATAGATTTTAATTTGCATGGATTTGCTGCTCTTTTTTTTTTTTTTTTTTTTTTAAAGACAGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTTGCTGCAGCCTCTGCCTCCTGGCAAGCGATTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTACAGGCATGCCACCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGCTTCTCCGTGTTGGTCAGGCTGATCTCGAACTCCTGACCTCCGGTGATCTGCCTGCCTTGGCCTCCCAAGGTGCTGGGA... | TTCCATGCATACTATACATAGATTTTAATTTGCATGGATTTGCTGCTCTTTTTTTTTTTTTTTTTTTTTTAAAGACAGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTTGCTGCAGCCTCTGCCTCCTGGCAAGCGATTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTACAGGCATGCCACCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGCTTCTCCGTGTTGGTCAGGCTGATCTCGAACTCCTGACCTCCGGTGATCTGCCTGCCTTGGCCTCCCAAGGTGCTGGGA... |
Task1_train_27713 | Given this variant in gene FERMT1 (FERM domain containing kindlin 1) on Chromosome 20, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Kindler syndrome | CCAGGGAGGAATTCCCATCCCTTGACTGCAGGCTCAGTCATGTCTTCTGCTTTGGCCAATGGAATGTGGGTGGAAGTGACAGTGTGCCAACTTCATGCCTAAGCTTTAGGAGGTGCATGTGTTGCTACGTGCCCTCTCACACTTCTGCCCTCACCAAGAGGAGACCTTCCCTAGGCAGCCTGGGACCCAGAATAAATAAAATCAGCTCAACCAGAGGCACAGTCCCACCAAACCTGTGTCTCCAAACCCATATGACCAGCTGACACCATCCTGGATCATCCAATCCCCAGCCTACCTTTCAGCACATCTTTCAGAAAACA... | CCAGGGAGGAATTCCCATCCCTTGACTGCAGGCTCAGTCATGTCTTCTGCTTTGGCCAATGGAATGTGGGTGGAAGTGACAGTGTGCCAACTTCATGCCTAAGCTTTAGGAGGTGCATGTGTTGCTACGTGCCCTCTCACACTTCTGCCCTCACCAAGAGGAGACCTTCCCTAGGCAGCCTGGGACCCAGAATAAATAAAATCAGCTCAACCAGAGGCACAGTCCCACCAAACCTGTGTCTCCAAACCCATATGACCAGCTGACACCATCCTGGATCATCCAATCCCCAGCCTACCTTTCAGCACATCTTTCAGAAAACA... |
Task1_train_27714 | A variant affecting Chromosome 20, within the gene BMP2 (bone morphogenetic protein 2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Transposition of the great arteries, dextro-looped | TTGAGTGAGTGATCTGACATGATTCTCCTTTGCTAAGGCATCTAGATTCAGTGCACAACTTACAGCTGTTTGTCTTTAGGGGAAATACAACTGTAAAATTAATAAAAACATAGTCTCTTCTTATGATAACATGGAACGATGGCAAAATAGATTTTGTTAGCACTTGGGTAGGAATTCTGAATGAAGCAGGCAAATTCTGTTGGCAGTGAAATGATAGGATGTGGTAAAGTTAGAATAAAATAAACTTAAATGTCTCAAACTCTCATGGTATATACTACCAGTTTAATAATAATGTTGTACCTTTGATGATTTGCAGACTA... | TTGAGTGAGTGATCTGACATGATTCTCCTTTGCTAAGGCATCTAGATTCAGTGCACAACTTACAGCTGTTTGTCTTTAGGGGAAATACAACTGTAAAATTAATAAAAACATAGTCTCTTCTTATGATAACATGGAACGATGGCAAAATAGATTTTGTTAGCACTTGGGTAGGAATTCTGAATGAAGCAGGCAAATTCTGTTGGCAGTGAAATGATAGGATGTGGTAAAGTTAGAATAAAATAAACTTAAATGTCTCAAACTCTCATGGTATATACTACCAGTTTAATAATAATGTTGTACCTTTGATGATTTGCAGACTA... |
Task1_train_27715 | Gene BMP2 (bone morphogenetic protein 2) on Chromosome 20 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Atrial septal defect 1 | CTGTAAAATTAATAAAAACATAGTCTCTTCTTATGATAACATGGAACGATGGCAAAATAGATTTTGTTAGCACTTGGGTAGGAATTCTGAATGAAGCAGGCAAATTCTGTTGGCAGTGAAATGATAGGATGTGGTAAAGTTAGAATAAAATAAACTTAAATGTCTCAAACTCTCATGGTATATACTACCAGTTTAATAATAATGTTGTACCTTTGATGATTTGCAGACTACAAGCATTCAAGGTGCTGTGTTATATATTACTTGCTTGGAGAATAATACTTCTTAAAAATTGAAATTCAGAAATTTTAAATCAGACAAAG... | CTGTAAAATTAATAAAAACATAGTCTCTTCTTATGATAACATGGAACGATGGCAAAATAGATTTTGTTAGCACTTGGGTAGGAATTCTGAATGAAGCAGGCAAATTCTGTTGGCAGTGAAATGATAGGATGTGGTAAAGTTAGAATAAAATAAACTTAAATGTCTCAAACTCTCATGGTATATACTACCAGTTTAATAATAATGTTGTACCTTTGATGATTTGCAGACTACAAGCATTCAAGGTGCTGTGTTATATATTACTTGCTTGGAGAATAATACTTCTTAAAAATTGAAATTCAGAAATTTTAAATCAGACAAAG... |
Task1_train_27716 | Given this variant in gene PLCB1 (phospholipase C beta 1) on Chromosome 20, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Self-limited epilepsy with centrotemporal spikes | CACTGAGCTGGGCTATAATAACTGCCACAACAATCTAATGAATTCTGTTTAATTAAAAAGAGATAATAAGAAGAATTTCATATTAAAACCCATAAGCCTAGATAATATGATGGTTCTAAATTGTCCTCATTGCCAATGTTAGATGTCTGACAACTTTAACTATTGTGAAACATCCATCACAGATATTCTAACTATAGATTCTGTTGTTTGAGGGAGGTGGGAAGGAAGCTCTGTTTGCAATCATTTGAAATAGCAAACTGACATTTTCTTTTTCCAGCTTATTCAAAAGTTGACGGATGTCGCAGAAGAGTGTCAGAACA... | CACTGAGCTGGGCTATAATAACTGCCACAACAATCTAATGAATTCTGTTTAATTAAAAAGAGATAATAAGAAGAATTTCATATTAAAACCCATAAGCCTAGATAATATGATGGTTCTAAATTGTCCTCATTGCCAATGTTAGATGTCTGACAACTTTAACTATTGTGAAACATCCATCACAGATATTCTAACTATAGATTCTGTTGTTTGAGGGAGGTGGGAAGGAAGCTCTGTTTGCAATCATTTGAAATAGCAAACTGACATTTTCTTTTTCCAGCTTATTCAAAAGTTGACGGATGTCGCAGAAGAGTGTCAGAACA... |
Task1_train_27717 | This genomic variant is located on Chromosome 20, within the PLCB4 (phospholipase C beta 4) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Auriculocondylar syndrome 1 | CCCTCTCCAGGCAATGCCTTCTCCTTCCTACTCAGTGCCCTACAATTTATGGTCCACACAGCAGCCAGAGTAAACCTTTTAAAACCAAATCTAATCATGTTATTCCACCCTTTGAAACCCTCCAAAGGCTTCCCAACACATTTAGAATAAAATCTAAAATACTTAGTGAGGACTAAAGCCCAAGTGATGTAGCCTTTGGCTCCATCTCCAATCTCACTTCAAGCTACCTTTTTCCTTGGTCACTTGCTCTGTCTTGCTGTCATTGAATGATGTTGGCACGCATACATCTGCATCAAGGTCTTTGCACTTGATGATCCTTC... | CCCTCTCCAGGCAATGCCTTCTCCTTCCTACTCAGTGCCCTACAATTTATGGTCCACACAGCAGCCAGAGTAAACCTTTTAAAACCAAATCTAATCATGTTATTCCACCCTTTGAAACCCTCCAAAGGCTTCCCAACACATTTAGAATAAAATCTAAAATACTTAGTGAGGACTAAAGCCCAAGTGATGTAGCCTTTGGCTCCATCTCCAATCTCACTTCAAGCTACCTTTTTCCTTGGTCACTTGCTCTGTCTTGCTGTCATTGAATGATGTTGGCACGCATACATCTGCATCAAGGTCTTTGCACTTGATGATCCTTC... |
Task1_train_27718 | The gene PLCB4 (phospholipase C beta 4) on Chromosome 20 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Auriculocondylar syndrome 2 | CCCTCTCCAGGCAATGCCTTCTCCTTCCTACTCAGTGCCCTACAATTTATGGTCCACACAGCAGCCAGAGTAAACCTTTTAAAACCAAATCTAATCATGTTATTCCACCCTTTGAAACCCTCCAAAGGCTTCCCAACACATTTAGAATAAAATCTAAAATACTTAGTGAGGACTAAAGCCCAAGTGATGTAGCCTTTGGCTCCATCTCCAATCTCACTTCAAGCTACCTTTTTCCTTGGTCACTTGCTCTGTCTTGCTGTCATTGAATGATGTTGGCACGCATACATCTGCATCAAGGTCTTTGCACTTGATGATCCTTC... | CCCTCTCCAGGCAATGCCTTCTCCTTCCTACTCAGTGCCCTACAATTTATGGTCCACACAGCAGCCAGAGTAAACCTTTTAAAACCAAATCTAATCATGTTATTCCACCCTTTGAAACCCTCCAAAGGCTTCCCAACACATTTAGAATAAAATCTAAAATACTTAGTGAGGACTAAAGCCCAAGTGATGTAGCCTTTGGCTCCATCTCCAATCTCACTTCAAGCTACCTTTTTCCTTGGTCACTTGCTCTGTCTTGCTGTCATTGAATGATGTTGGCACGCATACATCTGCATCAAGGTCTTTGCACTTGATGATCCTTC... |
Task1_train_27719 | A sequence alteration has been identified in PLCB4 (phospholipase C beta 4) on Chromosome 20. Is it disease-inducing or harmless? | Pathogenic; Auriculocondylar syndrome 2 | CAGACGGGGCGGCCGGGCAGAGGCGCTCCTCACCTCCCAGATGGGGTGGCGGCTGGGCAGAGGCGCTCCTCACTTCCCAGTCGTGGCGGCTGGGCAAAGGCGCTTCTCACATCCCAGACGGGGTGGCGGCCGGGCAAAGGCTCTCCTCACTTCTCAGACGGGGCGGCTGGCAGAGGCGCTCCTCACATCCCAGATGGGGTGGCGGCCGGGCAGAGGCGCTCCTCACCTCCCAGATGGGGTGGTGGCCGGGCAGAGGCGCTCCTCACCTCCCAGACGGGGCAGCCGGGCAGAGGCGCTCCTCGCTTCCCAGACGGGGCGGC... | CAGACGGGGCGGCCGGGCAGAGGCGCTCCTCACCTCCCAGATGGGGTGGCGGCTGGGCAGAGGCGCTCCTCACTTCCCAGTCGTGGCGGCTGGGCAAAGGCGCTTCTCACATCCCAGACGGGGTGGCGGCCGGGCAAAGGCTCTCCTCACTTCTCAGACGGGGCGGCTGGCAGAGGCGCTCCTCACATCCCAGATGGGGTGGCGGCCGGGCAGAGGCGCTCCTCACCTCCCAGATGGGGTGGTGGCCGGGCAGAGGCGCTCCTCACCTCCCAGACGGGGCAGCCGGGCAGAGGCGCTCCTCGCTTCCCAGACGGGGCGGC... |
Task1_train_27720 | Assess the clinical impact of this variant on gene PLCB4 (phospholipase C beta 4), found on Chromosome 20. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Auriculocondylar syndrome 2 | GGGGCGGCCGGGCAGAGGCGCTCCTCACCTCCCAGATGGGGTGGCGGCTGGGCAGAGGCGCTCCTCACTTCCCAGTCGTGGCGGCTGGGCAAAGGCGCTTCTCACATCCCAGACGGGGTGGCGGCCGGGCAAAGGCTCTCCTCACTTCTCAGACGGGGCGGCTGGCAGAGGCGCTCCTCACATCCCAGATGGGGTGGCGGCCGGGCAGAGGCGCTCCTCACCTCCCAGATGGGGTGGTGGCCGGGCAGAGGCGCTCCTCACCTCCCAGACGGGGCAGCCGGGCAGAGGCGCTCCTCGCTTCCCAGACGGGGCGGCCGGGC... | GGGGCGGCCGGGCAGAGGCGCTCCTCACCTCCCAGATGGGGTGGCGGCTGGGCAGAGGCGCTCCTCACTTCCCAGTCGTGGCGGCTGGGCAAAGGCGCTTCTCACATCCCAGACGGGGTGGCGGCCGGGCAAAGGCTCTCCTCACTTCTCAGACGGGGCGGCTGGCAGAGGCGCTCCTCACATCCCAGATGGGGTGGCGGCCGGGCAGAGGCGCTCCTCACCTCCCAGATGGGGTGGTGGCCGGGCAGAGGCGCTCCTCACCTCCCAGACGGGGCAGCCGGGCAGAGGCGCTCCTCGCTTCCCAGACGGGGCGGCCGGGC... |
Task1_train_27721 | A variant was discovered on Chromosome 20, affecting PLCB4 (phospholipase C beta 4). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Auriculocondylar syndrome 2 | GGGCGGCCGGGCAGAGGCGCTCCTCACCTCCCAGATGGGGTGGCGGCTGGGCAGAGGCGCTCCTCACTTCCCAGTCGTGGCGGCTGGGCAAAGGCGCTTCTCACATCCCAGACGGGGTGGCGGCCGGGCAAAGGCTCTCCTCACTTCTCAGACGGGGCGGCTGGCAGAGGCGCTCCTCACATCCCAGATGGGGTGGCGGCCGGGCAGAGGCGCTCCTCACCTCCCAGATGGGGTGGTGGCCGGGCAGAGGCGCTCCTCACCTCCCAGACGGGGCAGCCGGGCAGAGGCGCTCCTCGCTTCCCAGACGGGGCGGCCGGGCA... | GGGCGGCCGGGCAGAGGCGCTCCTCACCTCCCAGATGGGGTGGCGGCTGGGCAGAGGCGCTCCTCACTTCCCAGTCGTGGCGGCTGGGCAAAGGCGCTTCTCACATCCCAGACGGGGTGGCGGCCGGGCAAAGGCTCTCCTCACTTCTCAGACGGGGCGGCTGGCAGAGGCGCTCCTCACATCCCAGATGGGGTGGCGGCCGGGCAGAGGCGCTCCTCACCTCCCAGATGGGGTGGTGGCCGGGCAGAGGCGCTCCTCACCTCCCAGACGGGGCAGCCGGGCAGAGGCGCTCCTCGCTTCCCAGACGGGGCGGCCGGGCA... |
Task1_train_27722 | Here is a mutation in PLCB4 (phospholipase C beta 4) on Chromosome 20. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Auriculocondylar syndrome 1 | ATTAGGTTACTTTTAAGATTAAGTGCTTTTTAAATACTATAAACCACGTATGTATGTTGCTTACATTCTAGAGTGCTACAGTGAAACATAGTCCCCAAAGAGGCAGCATCATTAGCACCTGGGAACTAGTTACAGCAATGACTGGCCTCACTGCAGACTCACTTCAACAGAAACTCTGAGTGTGGGGCCCAGGAATCTGTTCTAGTTTAAAAAGTCTTCCAGGTGATTCTGATGCACGCTAATGTTCGAGAGTCACTATTTTTGATGTTGTGCCTCAATTTGTAAAAATATGATGCTATATCTATTTCATAGCATTGCTG... | ATTAGGTTACTTTTAAGATTAAGTGCTTTTTAAATACTATAAACCACGTATGTATGTTGCTTACATTCTAGAGTGCTACAGTGAAACATAGTCCCCAAAGAGGCAGCATCATTAGCACCTGGGAACTAGTTACAGCAATGACTGGCCTCACTGCAGACTCACTTCAACAGAAACTCTGAGTGTGGGGCCCAGGAATCTGTTCTAGTTTAAAAAGTCTTCCAGGTGATTCTGATGCACGCTAATGTTCGAGAGTCACTATTTTTGATGTTGTGCCTCAATTTGTAAAAATATGATGCTATATCTATTTCATAGCATTGCTG... |
Task1_train_27723 | Given a variant located on Chromosome 20 and affecting PLCB4 (phospholipase C beta 4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Auriculocondylar syndrome 1 | TTAGGTTACTTTTAAGATTAAGTGCTTTTTAAATACTATAAACCACGTATGTATGTTGCTTACATTCTAGAGTGCTACAGTGAAACATAGTCCCCAAAGAGGCAGCATCATTAGCACCTGGGAACTAGTTACAGCAATGACTGGCCTCACTGCAGACTCACTTCAACAGAAACTCTGAGTGTGGGGCCCAGGAATCTGTTCTAGTTTAAAAAGTCTTCCAGGTGATTCTGATGCACGCTAATGTTCGAGAGTCACTATTTTTGATGTTGTGCCTCAATTTGTAAAAATATGATGCTATATCTATTTCATAGCATTGCTGT... | TTAGGTTACTTTTAAGATTAAGTGCTTTTTAAATACTATAAACCACGTATGTATGTTGCTTACATTCTAGAGTGCTACAGTGAAACATAGTCCCCAAAGAGGCAGCATCATTAGCACCTGGGAACTAGTTACAGCAATGACTGGCCTCACTGCAGACTCACTTCAACAGAAACTCTGAGTGTGGGGCCCAGGAATCTGTTCTAGTTTAAAAAGTCTTCCAGGTGATTCTGATGCACGCTAATGTTCGAGAGTCACTATTTTTGATGTTGTGCCTCAATTTGTAAAAATATGATGCTATATCTATTTCATAGCATTGCTGT... |
Task1_train_27724 | A variant on Chromosome 20 in gene PLCB4 (phospholipase C beta 4) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Auriculocondylar syndrome 2 | TTAGGTTACTTTTAAGATTAAGTGCTTTTTAAATACTATAAACCACGTATGTATGTTGCTTACATTCTAGAGTGCTACAGTGAAACATAGTCCCCAAAGAGGCAGCATCATTAGCACCTGGGAACTAGTTACAGCAATGACTGGCCTCACTGCAGACTCACTTCAACAGAAACTCTGAGTGTGGGGCCCAGGAATCTGTTCTAGTTTAAAAAGTCTTCCAGGTGATTCTGATGCACGCTAATGTTCGAGAGTCACTATTTTTGATGTTGTGCCTCAATTTGTAAAAATATGATGCTATATCTATTTCATAGCATTGCTGT... | TTAGGTTACTTTTAAGATTAAGTGCTTTTTAAATACTATAAACCACGTATGTATGTTGCTTACATTCTAGAGTGCTACAGTGAAACATAGTCCCCAAAGAGGCAGCATCATTAGCACCTGGGAACTAGTTACAGCAATGACTGGCCTCACTGCAGACTCACTTCAACAGAAACTCTGAGTGTGGGGCCCAGGAATCTGTTCTAGTTTAAAAAGTCTTCCAGGTGATTCTGATGCACGCTAATGTTCGAGAGTCACTATTTTTGATGTTGTGCCTCAATTTGTAAAAATATGATGCTATATCTATTTCATAGCATTGCTGT... |
Task1_train_27725 | A change on Chromosome 20 affects gene PLCB4 (phospholipase C beta 4). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Inborn genetic diseases | TTAGGTTACTTTTAAGATTAAGTGCTTTTTAAATACTATAAACCACGTATGTATGTTGCTTACATTCTAGAGTGCTACAGTGAAACATAGTCCCCAAAGAGGCAGCATCATTAGCACCTGGGAACTAGTTACAGCAATGACTGGCCTCACTGCAGACTCACTTCAACAGAAACTCTGAGTGTGGGGCCCAGGAATCTGTTCTAGTTTAAAAAGTCTTCCAGGTGATTCTGATGCACGCTAATGTTCGAGAGTCACTATTTTTGATGTTGTGCCTCAATTTGTAAAAATATGATGCTATATCTATTTCATAGCATTGCTGT... | TTAGGTTACTTTTAAGATTAAGTGCTTTTTAAATACTATAAACCACGTATGTATGTTGCTTACATTCTAGAGTGCTACAGTGAAACATAGTCCCCAAAGAGGCAGCATCATTAGCACCTGGGAACTAGTTACAGCAATGACTGGCCTCACTGCAGACTCACTTCAACAGAAACTCTGAGTGTGGGGCCCAGGAATCTGTTCTAGTTTAAAAAGTCTTCCAGGTGATTCTGATGCACGCTAATGTTCGAGAGTCACTATTTTTGATGTTGTGCCTCAATTTGTAAAAATATGATGCTATATCTATTTCATAGCATTGCTGT... |
Task1_train_27726 | The following genetic variant occurs in PLCB4 (phospholipase C beta 4) on Chromosome 20. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Auriculocondylar syndrome | TTAGGTTACTTTTAAGATTAAGTGCTTTTTAAATACTATAAACCACGTATGTATGTTGCTTACATTCTAGAGTGCTACAGTGAAACATAGTCCCCAAAGAGGCAGCATCATTAGCACCTGGGAACTAGTTACAGCAATGACTGGCCTCACTGCAGACTCACTTCAACAGAAACTCTGAGTGTGGGGCCCAGGAATCTGTTCTAGTTTAAAAAGTCTTCCAGGTGATTCTGATGCACGCTAATGTTCGAGAGTCACTATTTTTGATGTTGTGCCTCAATTTGTAAAAATATGATGCTATATCTATTTCATAGCATTGCTGT... | TTAGGTTACTTTTAAGATTAAGTGCTTTTTAAATACTATAAACCACGTATGTATGTTGCTTACATTCTAGAGTGCTACAGTGAAACATAGTCCCCAAAGAGGCAGCATCATTAGCACCTGGGAACTAGTTACAGCAATGACTGGCCTCACTGCAGACTCACTTCAACAGAAACTCTGAGTGTGGGGCCCAGGAATCTGTTCTAGTTTAAAAAGTCTTCCAGGTGATTCTGATGCACGCTAATGTTCGAGAGTCACTATTTTTGATGTTGTGCCTCAATTTGTAAAAATATGATGCTATATCTATTTCATAGCATTGCTGT... |
Task1_train_27727 | Located on Chromosome 20, this mutation impacts PLCB4 (phospholipase C beta 4). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Auriculocondylar syndrome 2 | TTAGGTTACTTTTAAGATTAAGTGCTTTTTAAATACTATAAACCACGTATGTATGTTGCTTACATTCTAGAGTGCTACAGTGAAACATAGTCCCCAAAGAGGCAGCATCATTAGCACCTGGGAACTAGTTACAGCAATGACTGGCCTCACTGCAGACTCACTTCAACAGAAACTCTGAGTGTGGGGCCCAGGAATCTGTTCTAGTTTAAAAAGTCTTCCAGGTGATTCTGATGCACGCTAATGTTCGAGAGTCACTATTTTTGATGTTGTGCCTCAATTTGTAAAAATATGATGCTATATCTATTTCATAGCATTGCTGT... | TTAGGTTACTTTTAAGATTAAGTGCTTTTTAAATACTATAAACCACGTATGTATGTTGCTTACATTCTAGAGTGCTACAGTGAAACATAGTCCCCAAAGAGGCAGCATCATTAGCACCTGGGAACTAGTTACAGCAATGACTGGCCTCACTGCAGACTCACTTCAACAGAAACTCTGAGTGTGGGGCCCAGGAATCTGTTCTAGTTTAAAAAGTCTTCCAGGTGATTCTGATGCACGCTAATGTTCGAGAGTCACTATTTTTGATGTTGTGCCTCAATTTGTAAAAATATGATGCTATATCTATTTCATAGCATTGCTGT... |
Task1_train_27728 | This variant impacts the gene PLCB4 (phospholipase C beta 4) on Chromosome 20. Is the change likely to result in a pathogenic outcome? | Pathogenic; Auriculocondylar syndrome 1 | TACTTTTAAGATTAAGTGCTTTTTAAATACTATAAACCACGTATGTATGTTGCTTACATTCTAGAGTGCTACAGTGAAACATAGTCCCCAAAGAGGCAGCATCATTAGCACCTGGGAACTAGTTACAGCAATGACTGGCCTCACTGCAGACTCACTTCAACAGAAACTCTGAGTGTGGGGCCCAGGAATCTGTTCTAGTTTAAAAAGTCTTCCAGGTGATTCTGATGCACGCTAATGTTCGAGAGTCACTATTTTTGATGTTGTGCCTCAATTTGTAAAAATATGATGCTATATCTATTTCATAGCATTGCTGTGAGGTC... | TACTTTTAAGATTAAGTGCTTTTTAAATACTATAAACCACGTATGTATGTTGCTTACATTCTAGAGTGCTACAGTGAAACATAGTCCCCAAAGAGGCAGCATCATTAGCACCTGGGAACTAGTTACAGCAATGACTGGCCTCACTGCAGACTCACTTCAACAGAAACTCTGAGTGTGGGGCCCAGGAATCTGTTCTAGTTTAAAAAGTCTTCCAGGTGATTCTGATGCACGCTAATGTTCGAGAGTCACTATTTTTGATGTTGTGCCTCAATTTGTAAAAATATGATGCTATATCTATTTCATAGCATTGCTGTGAGGTC... |
Task1_train_27729 | A sequence alteration has been identified in PLCB4 (phospholipase C beta 4) on Chromosome 20. Is it disease-inducing or harmless? | Pathogenic; Ocular melanocytosis | TTTTAAATACTATAAACCACGTATGTATGTTGCTTACATTCTAGAGTGCTACAGTGAAACATAGTCCCCAAAGAGGCAGCATCATTAGCACCTGGGAACTAGTTACAGCAATGACTGGCCTCACTGCAGACTCACTTCAACAGAAACTCTGAGTGTGGGGCCCAGGAATCTGTTCTAGTTTAAAAAGTCTTCCAGGTGATTCTGATGCACGCTAATGTTCGAGAGTCACTATTTTTGATGTTGTGCCTCAATTTGTAAAAATATGATGCTATATCTATTTCATAGCATTGCTGTGAGGTCCAATATAGTAATTTCTTTTT... | TTTTAAATACTATAAACCACGTATGTATGTTGCTTACATTCTAGAGTGCTACAGTGAAACATAGTCCCCAAAGAGGCAGCATCATTAGCACCTGGGAACTAGTTACAGCAATGACTGGCCTCACTGCAGACTCACTTCAACAGAAACTCTGAGTGTGGGGCCCAGGAATCTGTTCTAGTTTAAAAAGTCTTCCAGGTGATTCTGATGCACGCTAATGTTCGAGAGTCACTATTTTTGATGTTGTGCCTCAATTTGTAAAAATATGATGCTATATCTATTTCATAGCATTGCTGTGAGGTCCAATATAGTAATTTCTTTTT... |
Task1_train_27730 | Consider this mutation in PLCB4 (phospholipase C beta 4) on Chromosome 20. Is this a benign change or a disease-causing variant? | Pathogenic; Uveal melanoma | TTTTAAATACTATAAACCACGTATGTATGTTGCTTACATTCTAGAGTGCTACAGTGAAACATAGTCCCCAAAGAGGCAGCATCATTAGCACCTGGGAACTAGTTACAGCAATGACTGGCCTCACTGCAGACTCACTTCAACAGAAACTCTGAGTGTGGGGCCCAGGAATCTGTTCTAGTTTAAAAAGTCTTCCAGGTGATTCTGATGCACGCTAATGTTCGAGAGTCACTATTTTTGATGTTGTGCCTCAATTTGTAAAAATATGATGCTATATCTATTTCATAGCATTGCTGTGAGGTCCAATATAGTAATTTCTTTTT... | TTTTAAATACTATAAACCACGTATGTATGTTGCTTACATTCTAGAGTGCTACAGTGAAACATAGTCCCCAAAGAGGCAGCATCATTAGCACCTGGGAACTAGTTACAGCAATGACTGGCCTCACTGCAGACTCACTTCAACAGAAACTCTGAGTGTGGGGCCCAGGAATCTGTTCTAGTTTAAAAAGTCTTCCAGGTGATTCTGATGCACGCTAATGTTCGAGAGTCACTATTTTTGATGTTGTGCCTCAATTTGTAAAAATATGATGCTATATCTATTTCATAGCATTGCTGTGAGGTCCAATATAGTAATTTCTTTTT... |
Task1_train_27731 | A genomic change on Chromosome 20 affects PLCB4 (phospholipase C beta 4). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Auriculocondylar syndrome 1 | ATAGTCCCCAAAGAGGCAGCATCATTAGCACCTGGGAACTAGTTACAGCAATGACTGGCCTCACTGCAGACTCACTTCAACAGAAACTCTGAGTGTGGGGCCCAGGAATCTGTTCTAGTTTAAAAAGTCTTCCAGGTGATTCTGATGCACGCTAATGTTCGAGAGTCACTATTTTTGATGTTGTGCCTCAATTTGTAAAAATATGATGCTATATCTATTTCATAGCATTGCTGTGAGGTCCAATATAGTAATTTCTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCTGGTCTGGAGTGCAGTGGCACAATCT... | ATAGTCCCCAAAGAGGCAGCATCATTAGCACCTGGGAACTAGTTACAGCAATGACTGGCCTCACTGCAGACTCACTTCAACAGAAACTCTGAGTGTGGGGCCCAGGAATCTGTTCTAGTTTAAAAAGTCTTCCAGGTGATTCTGATGCACGCTAATGTTCGAGAGTCACTATTTTTGATGTTGTGCCTCAATTTGTAAAAATATGATGCTATATCTATTTCATAGCATTGCTGTGAGGTCCAATATAGTAATTTCTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCTGGTCTGGAGTGCAGTGGCACAATCT... |
Task1_train_27732 | The gene SNAP25 (synaptosome associated protein 25), on Chromosome 20, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCAGAAATTTTTTTTGTATTTTTAGTAGAAACATGGTTTTACCATGTTAGCCAGGCTGGTCTCAAACTCTGGACCTCTGGTGATCTGCCTGCCTTGGCCTCCCTAAGTGCTGGGATCACAGGCATGAGCCACCACACCCAGCTATATTTGCGGATTTTTTTTTTTAAGCCATCACTGTGCCTGTATTTATTCGGCAAAAGTTCTCCTGCACTACCTTATTATCTCCTCCAGGTATT... | CTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCAGAAATTTTTTTTGTATTTTTAGTAGAAACATGGTTTTACCATGTTAGCCAGGCTGGTCTCAAACTCTGGACCTCTGGTGATCTGCCTGCCTTGGCCTCCCTAAGTGCTGGGATCACAGGCATGAGCCACCACACCCAGCTATATTTGCGGATTTTTTTTTTTAAGCCATCACTGTGCCTGTATTTATTCGGCAAAAGTTCTCCTGCACTACCTTATTATCTCCTCCAGGTATT... |
Task1_train_27733 | A variant was discovered on Chromosome 20, affecting SNAP25 (synaptosome associated protein 25). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Inborn genetic diseases | CTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCAGAAATTTTTTTTGTATTTTTAGTAGAAACATGGTTTTACCATGTTAGCCAGGCTGGTCTCAAACTCTGGACCTCTGGTGATCTGCCTGCCTTGGCCTCCCTAAGTGCTGGGATCACAGGCATGAGCCACCACACCCAGCTATATTTGCGGATTTTTTTTTTTAAGCCATCACTGTGCCTGTATTTATTCGGCAAAAGTTCTCCTGCACTACCTTATTATCTCCTCCAGGTATT... | CTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCAGAAATTTTTTTTGTATTTTTAGTAGAAACATGGTTTTACCATGTTAGCCAGGCTGGTCTCAAACTCTGGACCTCTGGTGATCTGCCTGCCTTGGCCTCCCTAAGTGCTGGGATCACAGGCATGAGCCACCACACCCAGCTATATTTGCGGATTTTTTTTTTTAAGCCATCACTGTGCCTGTATTTATTCGGCAAAAGTTCTCCTGCACTACCTTATTATCTCCTCCAGGTATT... |
Task1_train_27734 | This sequence variant lies in SNAP25 (synaptosome associated protein 25) on Chromosome 20. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Developmental and epileptic encephalopathy, 2 | AGTGTGGACTCTGACTCCAGGTTGCTAGCATTCAGACTCTGGTTTCTCCATTTATTAGTACTAAGACTTCAGACAAATTCCCCAGATCGTTTCTGACTGCTTTTCTCATTTGGAAAAGTGAGCTAATAATAGTACACACTTTATAGTTGATATTGTTAATCTTGATGTTGTCAAAGTTTAATGAGTGGAACAAAGTACAGTTGACCCTTGAACAACATGGAGATTTAGGGTGTCAACCCCCATGCAGCTGAAAATTTTTTGACTCCCCCAAAATTTAACTACTAGTAGCCTACTGTTGACTGGAAGCCTTAATGACATAA... | AGTGTGGACTCTGACTCCAGGTTGCTAGCATTCAGACTCTGGTTTCTCCATTTATTAGTACTAAGACTTCAGACAAATTCCCCAGATCGTTTCTGACTGCTTTTCTCATTTGGAAAAGTGAGCTAATAATAGTACACACTTTATAGTTGATATTGTTAATCTTGATGTTGTCAAAGTTTAATGAGTGGAACAAAGTACAGTTGACCCTTGAACAACATGGAGATTTAGGGTGTCAACCCCCATGCAGCTGAAAATTTTTTGACTCCCCCAAAATTTAACTACTAGTAGCCTACTGTTGACTGGAAGCCTTAATGACATAA... |
Task1_train_27735 | A sequence alteration has been identified in MKKS (MKKS centrosomal shuttling protein) on Chromosome 20. Is it disease-inducing or harmless? | Pathogenic; BARDET-BIEDL SYNDROME 2/6, DIGENIC | AAAGTTTCACTTTTGCATTACAACATCAGCTCAAAGTTCAGAATCTCATAATTGGAATCAAGTCAGGGTGATATCATAACTGGAATCACCCCAGGCTTCCTCAGGAGGTAGTTCTTTAAGTACAGTTCCTGGAACACAGTTGCTTTCCATCTGTAGACCCATGAAACTAGAGAAAAGTTATCTGCCTTCTACTCACAGCATAAAATTATGGATAAGGCATAACCATAACCATCACCATAACATTCTGTCCACAAAGCTGGGAAATGGGAGACATAAAGGAGTCACTAAGTCTAGCCCATGCTCAAGGGGAGGAAATTATG... | AAAGTTTCACTTTTGCATTACAACATCAGCTCAAAGTTCAGAATCTCATAATTGGAATCAAGTCAGGGTGATATCATAACTGGAATCACCCCAGGCTTCCTCAGGAGGTAGTTCTTTAAGTACAGTTCCTGGAACACAGTTGCTTTCCATCTGTAGACCCATGAAACTAGAGAAAAGTTATCTGCCTTCTACTCACAGCATAAAATTATGGATAAGGCATAACCATAACCATCACCATAACATTCTGTCCACAAAGCTGGGAAATGGGAGACATAAAGGAGTCACTAAGTCTAGCCCATGCTCAAGGGGAGGAAATTATG... |
Task1_train_27736 | Consider this mutation in MKKS (MKKS centrosomal shuttling protein) on Chromosome 20. Is this a benign change or a disease-causing variant? | Pathogenic; Bardet-Biedl syndrome | ACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTT... | ACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTT... |
Task1_train_27737 | Here is a variant affecting MKKS (MKKS centrosomal shuttling protein) on Chromosome 20. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; McKusick-Kaufman syndrome | ACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTT... | ACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTT... |
Task1_train_27738 | A sequence alteration has been identified in MKKS (MKKS centrosomal shuttling protein) on Chromosome 20. Is it disease-inducing or harmless? | Pathogenic; Bardet-Biedl syndrome 6 | ACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTT... | ACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTT... |
Task1_train_27739 | This is a variant in MKKS (MKKS centrosomal shuttling protein), located on Chromosome 20. Is this mutation a likely cause of disease or not? | Pathogenic; McKusick-Kaufman syndrome | AATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATA... | AATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATA... |
Task1_train_27740 | This mutation is located in gene MKKS (MKKS centrosomal shuttling protein) on Chromosome 20. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; MKKS-related disorder | AATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATA... | AATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATA... |
Task1_train_27741 | A mutation in MKKS (MKKS centrosomal shuttling protein), located on Chromosome 20, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Inborn genetic diseases | CCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGA... | CCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGA... |
Task1_train_27742 | A variant found in Chromosome 20 affects MKKS (MKKS centrosomal shuttling protein). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Bardet-Biedl syndrome 6 | CCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGA... | CCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGA... |
Task1_train_27743 | Here’s a variant in MKKS (MKKS centrosomal shuttling protein) located on Chromosome 20. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; McKusick-Kaufman syndrome | CCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGA... | CCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGA... |
Task1_train_27744 | The gene MKKS (MKKS centrosomal shuttling protein), on Chromosome 20, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Bardet-Biedl syndrome 6 | CCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGA... | CCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGA... |
Task1_train_27745 | A variant affecting Chromosome 20, within the gene MKKS (MKKS centrosomal shuttling protein), has been observed. Determine if it's benign or associated with disease. | Pathogenic; McKusick-Kaufman syndrome | CCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGA... | CCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGA... |
Task1_train_27746 | A mutation in MKKS (MKKS centrosomal shuttling protein), located on Chromosome 20, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Bardet-Biedl syndrome | CCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGA... | CCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGA... |
Task1_train_27747 | Gene MKKS (MKKS centrosomal shuttling protein), found on Chromosome 20, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Retinal dystrophy | CCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGA... | CCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGA... |
Task1_train_27748 | A mutation found in MKKS (MKKS centrosomal shuttling protein) on Chromosome 20 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Bardet-Biedl syndrome | CCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGA... | CCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGA... |
Task1_train_27749 | The gene JAG1 (jagged canonical Notch ligand 1) on Chromosome 20 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | ATTTCTCCAGGGCCTGATCAGACCCAGCACAGACAAGCCTCTGGAAGCCACAGTCGTCCTCCCTTCCGTTTGTATTAGCTTTATCCTATACCAGTGTAGCTGTGGTTAACATCTGCTTGCCCATAATTTCATGTTAGTCATGGGGAAATGCACATACTTTCTTCAGGACCCCACTGTAGATTAATCATCAGATTCTGTGACTGGCACTCTCTCCCCAAGAACAAGGAGGGCTACACCACCCAGGGAACTACCAGCAGGTACCTGGGAGGATCCAGCCTGGCATATCTTAATCCCAGCTGGAGGAGAGAGATCCTTTGCTC... | ATTTCTCCAGGGCCTGATCAGACCCAGCACAGACAAGCCTCTGGAAGCCACAGTCGTCCTCCCTTCCGTTTGTATTAGCTTTATCCTATACCAGTGTAGCTGTGGTTAACATCTGCTTGCCCATAATTTCATGTTAGTCATGGGGAAATGCACATACTTTCTTCAGGACCCCACTGTAGATTAATCATCAGATTCTGTGACTGGCACTCTCTCCCCAAGAACAAGGAGGGCTACACCACCCAGGGAACTACCAGCAGGTACCTGGGAGGATCCAGCCTGGCATATCTTAATCCCAGCTGGAGGAGAGAGATCCTTTGCTC... |
Task1_train_27750 | Here’s a variant in JAG1 (jagged canonical Notch ligand 1) located on Chromosome 20. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Charcot-Marie-Tooth disease, axonal, Type 2HH | CGTTGCCTGGGGAATTTTAAAAGAATACTGATGCCTGGGTCCCACCCCCAGAAAGTCTAATTTCACAGGTCTTGGTTGCAGCCCAGGCAGCGGGATTTTTAAAAGCTCCCAGGTGATTCTGGTGTGCAGCCAAGGTTGAAAAATCACTGCTCTAAATGAGGACACAACCTGGCTAATTAAAGTGTGGTCCATGGGGCAGCAGGATCGCTTCACCTGGGAGCTTGTTAGAAAAGCAGTCTGAGGCCCCACCCCAGACCTCCTGACTCAGAACTTGCATTTTAAACACAATCCCTGGGTGATTCTCACACACACACACACAC... | CGTTGCCTGGGGAATTTTAAAAGAATACTGATGCCTGGGTCCCACCCCCAGAAAGTCTAATTTCACAGGTCTTGGTTGCAGCCCAGGCAGCGGGATTTTTAAAAGCTCCCAGGTGATTCTGGTGTGCAGCCAAGGTTGAAAAATCACTGCTCTAAATGAGGACACAACCTGGCTAATTAAAGTGTGGTCCATGGGGCAGCAGGATCGCTTCACCTGGGAGCTTGTTAGAAAAGCAGTCTGAGGCCCCACCCCAGACCTCCTGACTCAGAACTTGCATTTTAAACACAATCCCTGGGTGATTCTCACACACACACACACAC... |
Task1_train_27751 | A variant was discovered on Chromosome 20, affecting JAG1 (jagged canonical Notch ligand 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Charcot-Marie-Tooth disease, axonal, Type 2HH | ACCAGGCCCAGAGAAATATCATAAGCTCCAGGGGCCAACCAGCAGACACGCCCAGGTGGCCATGCCCACTGCAGATCCCACGTGGGGCATAAAGTTACCTATGTTACAGGTTGTTCCTTCCCAGCCGCCAGGACACATGCACTTAAAAGCATCCCCCTCATCATAGCAGGTGCCACCGTTGTTGCACGTGGCCTCATCACACTGACTGTCACCTGGAGGAAAATATTTCAGTGTGAGTCCCAGTGGCCCCCTCCCACAGAAGACAGAGGGAAGGGTCCCAGAGATAGCATCCAAGGCCAACTACCACTTACGTGAGTGGC... | ACCAGGCCCAGAGAAATATCATAAGCTCCAGGGGCCAACCAGCAGACACGCCCAGGTGGCCATGCCCACTGCAGATCCCACGTGGGGCATAAAGTTACCTATGTTACAGGTTGTTCCTTCCCAGCCGCCAGGACACATGCACTTAAAAGCATCCCCCTCATCATAGCAGGTGCCACCGTTGTTGCACGTGGCCTCATCACACTGACTGTCACCTGGAGGAAAATATTTCAGTGTGAGTCCCAGTGGCCCCCTCCCACAGAAGACAGAGGGAAGGGTCCCAGAGATAGCATCCAAGGCCAACTACCACTTACGTGAGTGGC... |
Task1_train_27752 | Here is a genetic alteration in JAG1 (jagged canonical Notch ligand 1) on Chromosome 20. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Alagille syndrome due to a JAG1 point mutation | TGGGATCCCTCCAACATGACCCATACATCCCAGAGCTCCCCAAAGAGTGGCAGACTCACTGGTTTCACAGTAGGCCCCCTCCCAGCCGTCACTACAGATGCACTTGTAGGAGTTGACACCATCGATGCAAGTGCCACCGTTTCTACAAGGGTTGCTCTCACAGTCATTAATATCTATGAAACAAAGTAAAGCAAAAAAAGAACTGAAGGACTTGTGAAGCCATAGACAAGCACTGTTCAGCAGTTTTCATGGCTCCCTCCTGACACAATGCACCTGGCACCTCCACCTGCTACCCTCCATCAGGGCTGTTTCTCAAATTA... | TGGGATCCCTCCAACATGACCCATACATCCCAGAGCTCCCCAAAGAGTGGCAGACTCACTGGTTTCACAGTAGGCCCCCTCCCAGCCGTCACTACAGATGCACTTGTAGGAGTTGACACCATCGATGCAAGTGCCACCGTTTCTACAAGGGTTGCTCTCACAGTCATTAATATCTATGAAACAAAGTAAAGCAAAAAAAGAACTGAAGGACTTGTGAAGCCATAGACAAGCACTGTTCAGCAGTTTTCATGGCTCCCTCCTGACACAATGCACCTGGCACCTCCACCTGCTACCCTCCATCAGGGCTGTTTCTCAAATTA... |
Task1_train_27753 | Assess the clinical impact of this variant on gene JAG1 (jagged canonical Notch ligand 1), found on Chromosome 20. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Alagille syndrome due to a JAG1 point mutation | TGGGATCCCTCCAACATGACCCATACATCCCAGAGCTCCCCAAAGAGTGGCAGACTCACTGGTTTCACAGTAGGCCCCCTCCCAGCCGTCACTACAGATGCACTTGTAGGAGTTGACACCATCGATGCAAGTGCCACCGTTTCTACAAGGGTTGCTCTCACAGTCATTAATATCTATGAAACAAAGTAAAGCAAAAAAAGAACTGAAGGACTTGTGAAGCCATAGACAAGCACTGTTCAGCAGTTTTCATGGCTCCCTCCTGACACAATGCACCTGGCACCTCCACCTGCTACCCTCCATCAGGGCTGTTTCTCAAATTA... | TGGGATCCCTCCAACATGACCCATACATCCCAGAGCTCCCCAAAGAGTGGCAGACTCACTGGTTTCACAGTAGGCCCCCTCCCAGCCGTCACTACAGATGCACTTGTAGGAGTTGACACCATCGATGCAAGTGCCACCGTTTCTACAAGGGTTGCTCTCACAGTCATTAATATCTATGAAACAAAGTAAAGCAAAAAAAGAACTGAAGGACTTGTGAAGCCATAGACAAGCACTGTTCAGCAGTTTTCATGGCTCCCTCCTGACACAATGCACCTGGCACCTCCACCTGCTACCCTCCATCAGGGCTGTTTCTCAAATTA... |
Task1_train_27754 | Here is a mutation in JAG1 (jagged canonical Notch ligand 1) on Chromosome 20. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Alagille syndrome due to a JAG1 point mutation | GTATTTGAAACAACGGGGCAGAGTGGGAGAGGGAGCACAAGAGGGGGTGGAGGGAACCAAAAAGAACACAAAGACGAAGACACTAAGAAGAAAATAATTCGTCAGTATCTCCTTCCACCAGCATTTGTCTAGCAGAGACTCTCTCATCAATAGGATGTTAATAGATGTTAGGAAATTCCAGACACAAGAGCTGAGGGAAAAGTAAAGGGAAGCGGAGGAGGCAGCGGCTCTGCTCTAAAAACTTGGCCATCTGAGGTTTTGCCACCACTCACCTGACAGAGGTTTCCAGAGAAACCAGTGGGACACAGACACTGGAATCT... | GTATTTGAAACAACGGGGCAGAGTGGGAGAGGGAGCACAAGAGGGGGTGGAGGGAACCAAAAAGAACACAAAGACGAAGACACTAAGAAGAAAATAATTCGTCAGTATCTCCTTCCACCAGCATTTGTCTAGCAGAGACTCTCTCATCAATAGGATGTTAATAGATGTTAGGAAATTCCAGACACAAGAGCTGAGGGAAAAGTAAAGGGAAGCGGAGGAGGCAGCGGCTCTGCTCTAAAAACTTGGCCATCTGAGGTTTTGCCACCACTCACCTGACAGAGGTTTCCAGAGAAACCAGTGGGACACAGACACTGGAATCT... |
Task1_train_27755 | This variant affects the gene JAG1 (jagged canonical Notch ligand 1) found on Chromosome 20. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Alagille syndrome due to a JAG1 point mutation | ATAGCTGTAAAAAACAGAGAAGGGCGTGTCAGCACACTGCCTGTTCCTTGCATCGCCCCGGTCATGAGAATGGCCCATTGCATTAAAGTCTGCAAATTCCACGATTTTAACAGGTCTCATATCAAGTCCCTTGTAAGGAGAGGAAGATGGGAGGGGCCCAAATAACAAAACCAGCTTTAAACTTCAAGGCCTTGTTAGCAGATTCTGAAAACATGATATTGTTTGGGGACAAAATGCAGACAAGTTGACGAGGGAAGGGGGACCTTCGTCCAGCCTCTCTAAACCACAGCTACCCTGGCTCCTTGAGCAGAGCTTGGTCA... | ATAGCTGTAAAAAACAGAGAAGGGCGTGTCAGCACACTGCCTGTTCCTTGCATCGCCCCGGTCATGAGAATGGCCCATTGCATTAAAGTCTGCAAATTCCACGATTTTAACAGGTCTCATATCAAGTCCCTTGTAAGGAGAGGAAGATGGGAGGGGCCCAAATAACAAAACCAGCTTTAAACTTCAAGGCCTTGTTAGCAGATTCTGAAAACATGATATTGTTTGGGGACAAAATGCAGACAAGTTGACGAGGGAAGGGGGACCTTCGTCCAGCCTCTCTAAACCACAGCTACCCTGGCTCCTTGAGCAGAGCTTGGTCA... |
Task1_train_27756 | With a mutation on Chromosome 20 in gene JAG1 (jagged canonical Notch ligand 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Deafness, congenital heart defects, and posterior embryotoxon | AACAGGTCTCATATCAAGTCCCTTGTAAGGAGAGGAAGATGGGAGGGGCCCAAATAACAAAACCAGCTTTAAACTTCAAGGCCTTGTTAGCAGATTCTGAAAACATGATATTGTTTGGGGACAAAATGCAGACAAGTTGACGAGGGAAGGGGGACCTTCGTCCAGCCTCTCTAAACCACAGCTACCCTGGCTCCTTGAGCAGAGCTTGGTCAGTTTCCATTCTGCCCACACCCTTTTCATTAGAAGAAAAAAAGGTATAGATAATCCTTCCCCATCCCACCAGGACACATTCAGATGAGCCTCAGCCTTTAAAAAAAAAA... | AACAGGTCTCATATCAAGTCCCTTGTAAGGAGAGGAAGATGGGAGGGGCCCAAATAACAAAACCAGCTTTAAACTTCAAGGCCTTGTTAGCAGATTCTGAAAACATGATATTGTTTGGGGACAAAATGCAGACAAGTTGACGAGGGAAGGGGGACCTTCGTCCAGCCTCTCTAAACCACAGCTACCCTGGCTCCTTGAGCAGAGCTTGGTCAGTTTCCATTCTGCCCACACCCTTTTCATTAGAAGAAAAAAAGGTATAGATAATCCTTCCCCATCCCACCAGGACACATTCAGATGAGCCTCAGCCTTTAAAAAAAAAA... |
Task1_train_27757 | Given this variant in gene JAG1 (jagged canonical Notch ligand 1) on Chromosome 20, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Tetralogy of Fallot | AACAGGTCTCATATCAAGTCCCTTGTAAGGAGAGGAAGATGGGAGGGGCCCAAATAACAAAACCAGCTTTAAACTTCAAGGCCTTGTTAGCAGATTCTGAAAACATGATATTGTTTGGGGACAAAATGCAGACAAGTTGACGAGGGAAGGGGGACCTTCGTCCAGCCTCTCTAAACCACAGCTACCCTGGCTCCTTGAGCAGAGCTTGGTCAGTTTCCATTCTGCCCACACCCTTTTCATTAGAAGAAAAAAAGGTATAGATAATCCTTCCCCATCCCACCAGGACACATTCAGATGAGCCTCAGCCTTTAAAAAAAAAA... | AACAGGTCTCATATCAAGTCCCTTGTAAGGAGAGGAAGATGGGAGGGGCCCAAATAACAAAACCAGCTTTAAACTTCAAGGCCTTGTTAGCAGATTCTGAAAACATGATATTGTTTGGGGACAAAATGCAGACAAGTTGACGAGGGAAGGGGGACCTTCGTCCAGCCTCTCTAAACCACAGCTACCCTGGCTCCTTGAGCAGAGCTTGGTCAGTTTCCATTCTGCCCACACCCTTTTCATTAGAAGAAAAAAAGGTATAGATAATCCTTCCCCATCCCACCAGGACACATTCAGATGAGCCTCAGCCTTTAAAAAAAAAA... |
Task1_train_27758 | The following genetic variant occurs in JAG1 (jagged canonical Notch ligand 1) on Chromosome 20. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Alagille syndrome due to a JAG1 point mutation | AACAGGTCTCATATCAAGTCCCTTGTAAGGAGAGGAAGATGGGAGGGGCCCAAATAACAAAACCAGCTTTAAACTTCAAGGCCTTGTTAGCAGATTCTGAAAACATGATATTGTTTGGGGACAAAATGCAGACAAGTTGACGAGGGAAGGGGGACCTTCGTCCAGCCTCTCTAAACCACAGCTACCCTGGCTCCTTGAGCAGAGCTTGGTCAGTTTCCATTCTGCCCACACCCTTTTCATTAGAAGAAAAAAAGGTATAGATAATCCTTCCCCATCCCACCAGGACACATTCAGATGAGCCTCAGCCTTTAAAAAAAAAA... | AACAGGTCTCATATCAAGTCCCTTGTAAGGAGAGGAAGATGGGAGGGGCCCAAATAACAAAACCAGCTTTAAACTTCAAGGCCTTGTTAGCAGATTCTGAAAACATGATATTGTTTGGGGACAAAATGCAGACAAGTTGACGAGGGAAGGGGGACCTTCGTCCAGCCTCTCTAAACCACAGCTACCCTGGCTCCTTGAGCAGAGCTTGGTCAGTTTCCATTCTGCCCACACCCTTTTCATTAGAAGAAAAAAAGGTATAGATAATCCTTCCCCATCCCACCAGGACACATTCAGATGAGCCTCAGCCTTTAAAAAAAAAA... |
Task1_train_27759 | This alteration occurs within gene JAG1 (jagged canonical Notch ligand 1) located on Chromosome 20. Is it associated with a disease or is it a benign variant? | Pathogenic; Charcot-Marie-Tooth disease, axonal, Type 2HH | AACAGGTCTCATATCAAGTCCCTTGTAAGGAGAGGAAGATGGGAGGGGCCCAAATAACAAAACCAGCTTTAAACTTCAAGGCCTTGTTAGCAGATTCTGAAAACATGATATTGTTTGGGGACAAAATGCAGACAAGTTGACGAGGGAAGGGGGACCTTCGTCCAGCCTCTCTAAACCACAGCTACCCTGGCTCCTTGAGCAGAGCTTGGTCAGTTTCCATTCTGCCCACACCCTTTTCATTAGAAGAAAAAAAGGTATAGATAATCCTTCCCCATCCCACCAGGACACATTCAGATGAGCCTCAGCCTTTAAAAAAAAAA... | AACAGGTCTCATATCAAGTCCCTTGTAAGGAGAGGAAGATGGGAGGGGCCCAAATAACAAAACCAGCTTTAAACTTCAAGGCCTTGTTAGCAGATTCTGAAAACATGATATTGTTTGGGGACAAAATGCAGACAAGTTGACGAGGGAAGGGGGACCTTCGTCCAGCCTCTCTAAACCACAGCTACCCTGGCTCCTTGAGCAGAGCTTGGTCAGTTTCCATTCTGCCCACACCCTTTTCATTAGAAGAAAAAAAGGTATAGATAATCCTTCCCCATCCCACCAGGACACATTCAGATGAGCCTCAGCCTTTAAAAAAAAAA... |
Task1_train_27760 | A genomic change on Chromosome 20 affects JAG1 (jagged canonical Notch ligand 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Alagille syndrome due to a JAG1 point mutation | AACAGGTCTCATATCAAGTCCCTTGTAAGGAGAGGAAGATGGGAGGGGCCCAAATAACAAAACCAGCTTTAAACTTCAAGGCCTTGTTAGCAGATTCTGAAAACATGATATTGTTTGGGGACAAAATGCAGACAAGTTGACGAGGGAAGGGGGACCTTCGTCCAGCCTCTCTAAACCACAGCTACCCTGGCTCCTTGAGCAGAGCTTGGTCAGTTTCCATTCTGCCCACACCCTTTTCATTAGAAGAAAAAAAGGTATAGATAATCCTTCCCCATCCCACCAGGACACATTCAGATGAGCCTCAGCCTTTAAAAAAAAAA... | AACAGGTCTCATATCAAGTCCCTTGTAAGGAGAGGAAGATGGGAGGGGCCCAAATAACAAAACCAGCTTTAAACTTCAAGGCCTTGTTAGCAGATTCTGAAAACATGATATTGTTTGGGGACAAAATGCAGACAAGTTGACGAGGGAAGGGGGACCTTCGTCCAGCCTCTCTAAACCACAGCTACCCTGGCTCCTTGAGCAGAGCTTGGTCAGTTTCCATTCTGCCCACACCCTTTTCATTAGAAGAAAAAAAGGTATAGATAATCCTTCCCCATCCCACCAGGACACATTCAGATGAGCCTCAGCCTTTAAAAAAAAAA... |
Task1_train_27761 | A genetic alteration is present in JAG1 (jagged canonical Notch ligand 1) on Chromosome 20. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Alagille syndrome due to a JAG1 point mutation | ACAGGTCTCATATCAAGTCCCTTGTAAGGAGAGGAAGATGGGAGGGGCCCAAATAACAAAACCAGCTTTAAACTTCAAGGCCTTGTTAGCAGATTCTGAAAACATGATATTGTTTGGGGACAAAATGCAGACAAGTTGACGAGGGAAGGGGGACCTTCGTCCAGCCTCTCTAAACCACAGCTACCCTGGCTCCTTGAGCAGAGCTTGGTCAGTTTCCATTCTGCCCACACCCTTTTCATTAGAAGAAAAAAAGGTATAGATAATCCTTCCCCATCCCACCAGGACACATTCAGATGAGCCTCAGCCTTTAAAAAAAAAAA... | ACAGGTCTCATATCAAGTCCCTTGTAAGGAGAGGAAGATGGGAGGGGCCCAAATAACAAAACCAGCTTTAAACTTCAAGGCCTTGTTAGCAGATTCTGAAAACATGATATTGTTTGGGGACAAAATGCAGACAAGTTGACGAGGGAAGGGGGACCTTCGTCCAGCCTCTCTAAACCACAGCTACCCTGGCTCCTTGAGCAGAGCTTGGTCAGTTTCCATTCTGCCCACACCCTTTTCATTAGAAGAAAAAAAGGTATAGATAATCCTTCCCCATCCCACCAGGACACATTCAGATGAGCCTCAGCCTTTAAAAAAAAAAA... |
Task1_train_27762 | Gene JAG1 (jagged canonical Notch ligand 1) on Chromosome 20 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Tetralogy of Fallot | ACAGGTCTCATATCAAGTCCCTTGTAAGGAGAGGAAGATGGGAGGGGCCCAAATAACAAAACCAGCTTTAAACTTCAAGGCCTTGTTAGCAGATTCTGAAAACATGATATTGTTTGGGGACAAAATGCAGACAAGTTGACGAGGGAAGGGGGACCTTCGTCCAGCCTCTCTAAACCACAGCTACCCTGGCTCCTTGAGCAGAGCTTGGTCAGTTTCCATTCTGCCCACACCCTTTTCATTAGAAGAAAAAAAGGTATAGATAATCCTTCCCCATCCCACCAGGACACATTCAGATGAGCCTCAGCCTTTAAAAAAAAAAA... | ACAGGTCTCATATCAAGTCCCTTGTAAGGAGAGGAAGATGGGAGGGGCCCAAATAACAAAACCAGCTTTAAACTTCAAGGCCTTGTTAGCAGATTCTGAAAACATGATATTGTTTGGGGACAAAATGCAGACAAGTTGACGAGGGAAGGGGGACCTTCGTCCAGCCTCTCTAAACCACAGCTACCCTGGCTCCTTGAGCAGAGCTTGGTCAGTTTCCATTCTGCCCACACCCTTTTCATTAGAAGAAAAAAAGGTATAGATAATCCTTCCCCATCCCACCAGGACACATTCAGATGAGCCTCAGCCTTTAAAAAAAAAAA... |
Task1_train_27763 | Gene JAG1 (jagged canonical Notch ligand 1) on Chromosome 20 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Deafness, congenital heart defects, and posterior embryotoxon | ACAGGTCTCATATCAAGTCCCTTGTAAGGAGAGGAAGATGGGAGGGGCCCAAATAACAAAACCAGCTTTAAACTTCAAGGCCTTGTTAGCAGATTCTGAAAACATGATATTGTTTGGGGACAAAATGCAGACAAGTTGACGAGGGAAGGGGGACCTTCGTCCAGCCTCTCTAAACCACAGCTACCCTGGCTCCTTGAGCAGAGCTTGGTCAGTTTCCATTCTGCCCACACCCTTTTCATTAGAAGAAAAAAAGGTATAGATAATCCTTCCCCATCCCACCAGGACACATTCAGATGAGCCTCAGCCTTTAAAAAAAAAAA... | ACAGGTCTCATATCAAGTCCCTTGTAAGGAGAGGAAGATGGGAGGGGCCCAAATAACAAAACCAGCTTTAAACTTCAAGGCCTTGTTAGCAGATTCTGAAAACATGATATTGTTTGGGGACAAAATGCAGACAAGTTGACGAGGGAAGGGGGACCTTCGTCCAGCCTCTCTAAACCACAGCTACCCTGGCTCCTTGAGCAGAGCTTGGTCAGTTTCCATTCTGCCCACACCCTTTTCATTAGAAGAAAAAAAGGTATAGATAATCCTTCCCCATCCCACCAGGACACATTCAGATGAGCCTCAGCCTTTAAAAAAAAAAA... |
Task1_train_27764 | Here is a variant affecting JAG1 (jagged canonical Notch ligand 1) on Chromosome 20. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Alagille syndrome due to a JAG1 point mutation | ACAGGTCTCATATCAAGTCCCTTGTAAGGAGAGGAAGATGGGAGGGGCCCAAATAACAAAACCAGCTTTAAACTTCAAGGCCTTGTTAGCAGATTCTGAAAACATGATATTGTTTGGGGACAAAATGCAGACAAGTTGACGAGGGAAGGGGGACCTTCGTCCAGCCTCTCTAAACCACAGCTACCCTGGCTCCTTGAGCAGAGCTTGGTCAGTTTCCATTCTGCCCACACCCTTTTCATTAGAAGAAAAAAAGGTATAGATAATCCTTCCCCATCCCACCAGGACACATTCAGATGAGCCTCAGCCTTTAAAAAAAAAAA... | ACAGGTCTCATATCAAGTCCCTTGTAAGGAGAGGAAGATGGGAGGGGCCCAAATAACAAAACCAGCTTTAAACTTCAAGGCCTTGTTAGCAGATTCTGAAAACATGATATTGTTTGGGGACAAAATGCAGACAAGTTGACGAGGGAAGGGGGACCTTCGTCCAGCCTCTCTAAACCACAGCTACCCTGGCTCCTTGAGCAGAGCTTGGTCAGTTTCCATTCTGCCCACACCCTTTTCATTAGAAGAAAAAAAGGTATAGATAATCCTTCCCCATCCCACCAGGACACATTCAGATGAGCCTCAGCCTTTAAAAAAAAAAA... |
Task1_train_27765 | With a mutation on Chromosome 20 in gene JAG1 (jagged canonical Notch ligand 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Charcot-Marie-Tooth disease, axonal, Type 2HH | ACAGGTCTCATATCAAGTCCCTTGTAAGGAGAGGAAGATGGGAGGGGCCCAAATAACAAAACCAGCTTTAAACTTCAAGGCCTTGTTAGCAGATTCTGAAAACATGATATTGTTTGGGGACAAAATGCAGACAAGTTGACGAGGGAAGGGGGACCTTCGTCCAGCCTCTCTAAACCACAGCTACCCTGGCTCCTTGAGCAGAGCTTGGTCAGTTTCCATTCTGCCCACACCCTTTTCATTAGAAGAAAAAAAGGTATAGATAATCCTTCCCCATCCCACCAGGACACATTCAGATGAGCCTCAGCCTTTAAAAAAAAAAA... | ACAGGTCTCATATCAAGTCCCTTGTAAGGAGAGGAAGATGGGAGGGGCCCAAATAACAAAACCAGCTTTAAACTTCAAGGCCTTGTTAGCAGATTCTGAAAACATGATATTGTTTGGGGACAAAATGCAGACAAGTTGACGAGGGAAGGGGGACCTTCGTCCAGCCTCTCTAAACCACAGCTACCCTGGCTCCTTGAGCAGAGCTTGGTCAGTTTCCATTCTGCCCACACCCTTTTCATTAGAAGAAAAAAAGGTATAGATAATCCTTCCCCATCCCACCAGGACACATTCAGATGAGCCTCAGCCTTTAAAAAAAAAAA... |
Task1_train_27766 | This variant impacts the gene JAG1 (jagged canonical Notch ligand 1) on Chromosome 20. Is the change likely to result in a pathogenic outcome? | Pathogenic; Alagille syndrome due to a JAG1 point mutation | GGCTTATGGCAATGAGTGTTCAAATATCGGTGCCAGACACCCAGAAGGGGCCCTGGGAAGGGACTGCTTTTGGCAAGAGAAGATCCTGAGTTTGGTTTTGACTGTGCTGAATTCAAGATTCCTTGGAAGCATCATAAAAGAGGCCAAATAGGCAAGTGGAGAAACCATTTCCACCAAACCCATCTCCCTCTTCAGGGTTCACCAAGTGAGTTTTGATAACCTGCAATGGGCACCCTTGAGGTTTAAAAGAACTTTATTCCTACCTCAGTCTTTCTTGTCCTCTTCCAGGGATTTGATTACCCCCCCAGGAGATGAAACAT... | GGCTTATGGCAATGAGTGTTCAAATATCGGTGCCAGACACCCAGAAGGGGCCCTGGGAAGGGACTGCTTTTGGCAAGAGAAGATCCTGAGTTTGGTTTTGACTGTGCTGAATTCAAGATTCCTTGGAAGCATCATAAAAGAGGCCAAATAGGCAAGTGGAGAAACCATTTCCACCAAACCCATCTCCCTCTTCAGGGTTCACCAAGTGAGTTTTGATAACCTGCAATGGGCACCCTTGAGGTTTAAAAGAACTTTATTCCTACCTCAGTCTTTCTTGTCCTCTTCCAGGGATTTGATTACCCCCCCAGGAGATGAAACAT... |
Task1_train_27767 | Gene JAG1 (jagged canonical Notch ligand 1), found on Chromosome 20, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Alagille syndrome due to a JAG1 point mutation | CAGACGCACTTTTCTAGGTCACTTTTCCTTGGCCAGCGAGGGAGCAAGCCTCCTTGTTTTCATGTTAGCCATCCCTCTGACCCTACTCTCCAAAATGAGCCTCAGCCAGGCTGCTGCTTTTCCACATCACTAATAAGATTCCTTTTATGGTCTTGTGAAAAGCGAGGGGCTCCAGACAGATCCTCCGGCAGGAGGGTGGAACCACCTGCAGGCCCCTTCCCCCTAAACTCCAAACACACGTTCAAGGGCAGTTTGAGTATTCACAGTCAGCTTGGGCCAGCCAGATTTAAACGCAGCCAGACTCTTTAGCTTAAAGTTCT... | CAGACGCACTTTTCTAGGTCACTTTTCCTTGGCCAGCGAGGGAGCAAGCCTCCTTGTTTTCATGTTAGCCATCCCTCTGACCCTACTCTCCAAAATGAGCCTCAGCCAGGCTGCTGCTTTTCCACATCACTAATAAGATTCCTTTTATGGTCTTGTGAAAAGCGAGGGGCTCCAGACAGATCCTCCGGCAGGAGGGTGGAACCACCTGCAGGCCCCTTCCCCCTAAACTCCAAACACACGTTCAAGGGCAGTTTGAGTATTCACAGTCAGCTTGGGCCAGCCAGATTTAAACGCAGCCAGACTCTTTAGCTTAAAGTTCT... |
Task1_train_27768 | This is a variant in JAG1 (jagged canonical Notch ligand 1), located on Chromosome 20. Is this mutation a likely cause of disease or not? | Pathogenic; Alagille syndrome due to a JAG1 point mutation | TCTAGGTCACTTTTCCTTGGCCAGCGAGGGAGCAAGCCTCCTTGTTTTCATGTTAGCCATCCCTCTGACCCTACTCTCCAAAATGAGCCTCAGCCAGGCTGCTGCTTTTCCACATCACTAATAAGATTCCTTTTATGGTCTTGTGAAAAGCGAGGGGCTCCAGACAGATCCTCCGGCAGGAGGGTGGAACCACCTGCAGGCCCCTTCCCCCTAAACTCCAAACACACGTTCAAGGGCAGTTTGAGTATTCACAGTCAGCTTGGGCCAGCCAGATTTAAACGCAGCCAGACTCTTTAGCTTAAAGTTCTCCCTAATAGGGG... | TCTAGGTCACTTTTCCTTGGCCAGCGAGGGAGCAAGCCTCCTTGTTTTCATGTTAGCCATCCCTCTGACCCTACTCTCCAAAATGAGCCTCAGCCAGGCTGCTGCTTTTCCACATCACTAATAAGATTCCTTTTATGGTCTTGTGAAAAGCGAGGGGCTCCAGACAGATCCTCCGGCAGGAGGGTGGAACCACCTGCAGGCCCCTTCCCCCTAAACTCCAAACACACGTTCAAGGGCAGTTTGAGTATTCACAGTCAGCTTGGGCCAGCCAGATTTAAACGCAGCCAGACTCTTTAGCTTAAAGTTCTCCCTAATAGGGG... |
Task1_train_27769 | This genomic variant is located on Chromosome 20, within the JAG1 (jagged canonical Notch ligand 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Alagille syndrome due to a JAG1 point mutation | CTTCATACACAGACACAGCCAGATAGTCTCCCCTCTGTCTCCTCCCAGAATCACAACCTAAGCCGGCGGACAGGAGGCAGCAGAGTGCACCCCATTAGAGCACGTGGTGGAAAGCAATGCTCTGGGGCACCGAGCTCCCCCTCTCACCACCCACCCTCCCAGCACAGGCTAGGCCAAGCCCCAGTCTTGGCAATGAGTCATGCCTCCTGGACAGCAGGAGCCAGGCAGAGGGCACACCCCCAACATTTCCCTTTCCTCCCCTTCTGCAATCGCACCCATCTTCCTTCCACCCATTTTGGGATGTTGCAAGGGCCTCGCTG... | CTTCATACACAGACACAGCCAGATAGTCTCCCCTCTGTCTCCTCCCAGAATCACAACCTAAGCCGGCGGACAGGAGGCAGCAGAGTGCACCCCATTAGAGCACGTGGTGGAAAGCAATGCTCTGGGGCACCGAGCTCCCCCTCTCACCACCCACCCTCCCAGCACAGGCTAGGCCAAGCCCCAGTCTTGGCAATGAGTCATGCCTCCTGGACAGCAGGAGCCAGGCAGAGGGCACACCCCCAACATTTCCCTTTCCTCCCCTTCTGCAATCGCACCCATCTTCCTTCCACCCATTTTGGGATGTTGCAAGGGCCTCGCTG... |
Task1_train_27770 | Given this context: Chromosome 20, gene TASP1 (taspase 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Suleiman-El-Hattab syndrome | TGGCTTCTCTCACCTTCTCTACTTCTCTATGGGGTTTTACCATGTTGGCCCGGCTGGTCTTGAACTCCTGACCTCAACTGATCTGCCCACCTTGGCCTTCCATGCTGGGATTACAGGAGTGAGCCACTGCGCCTGGCCTCAAATTACCATTCACCATCTGCACTGCTATCACATATCTACAGCAGGGTAATATGCTAAAATTTTTAAGTAGTTAATTGTGCATTTAAAATACATTAAAAGTATCTAGTTTCAGCACACTTTAAAAAATAATTAGCCTTTGATATAACTTGCTTTTGTATTTTGTTTCATTTGGGCTTGTC... | TGGCTTCTCTCACCTTCTCTACTTCTCTATGGGGTTTTACCATGTTGGCCCGGCTGGTCTTGAACTCCTGACCTCAACTGATCTGCCCACCTTGGCCTTCCATGCTGGGATTACAGGAGTGAGCCACTGCGCCTGGCCTCAAATTACCATTCACCATCTGCACTGCTATCACATATCTACAGCAGGGTAATATGCTAAAATTTTTAAGTAGTTAATTGTGCATTTAAAATACATTAAAAGTATCTAGTTTCAGCACACTTTAAAAAATAATTAGCCTTTGATATAACTTGCTTTTGTATTTTGTTTCATTTGGGCTTGTC... |
Task1_train_27771 | Chromosome 20 houses a mutation in gene NDUFAF5 (NADH:ubiquinone oxidoreductase complex assembly factor 5). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 16 | AGCTCTTAGCATGTTATGCCATGGAAAAGTTAACACGGAAGCCCTCACCCAGTGTAGTAAATTCGGAATGTTGAATACGCATACTCATGTTCTCTATTTTATTACATATAGTTAAATATAGCAAAGGATATGTGTTATTAAAAGTATTTGTGTACCATACTGGTTTTATGCAGAAATATACCTTTACAAAGCTGAAAATTAAAATGTAATTAACACTTTTACCTTTAGAAATGTCAGCAATTGTTTGTGACTGGATTTGTTTGTTTCAGCTTCAGTTATTCCATTGCAGGAAACTATTGGAAAGTTTTTCCAAGCTGACA... | AGCTCTTAGCATGTTATGCCATGGAAAAGTTAACACGGAAGCCCTCACCCAGTGTAGTAAATTCGGAATGTTGAATACGCATACTCATGTTCTCTATTTTATTACATATAGTTAAATATAGCAAAGGATATGTGTTATTAAAAGTATTTGTGTACCATACTGGTTTTATGCAGAAATATACCTTTACAAAGCTGAAAATTAAAATGTAATTAACACTTTTACCTTTAGAAATGTCAGCAATTGTTTGTGACTGGATTTGTTTGTTTCAGCTTCAGTTATTCCATTGCAGGAAACTATTGGAAAGTTTTTCCAAGCTGACA... |
Task1_train_27772 | Gene FLRT3, MACROD2 (fibronectin leucine rich transmembrane protein 3| mono-ADP ribosylhydrolase 2) on Chromosome 20 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hypogonadotropic hypogonadism 21 with or without anosmia | TTTGTAAAAGTAAATTGAACATTTATGTACAGTGTTAAAACCTTTGACATAAACCAGATCTAAATTTGATGTCTAGTATTTATTTTTCTTTAAATTATCTCTTATTTAAAGAACTACTTTCTCTGGATTGTTGAGGGGAATCGCTTATAATTACATTACATTTTTAATATGCATAAAGTTTCTCTGACATCCTTTATGATAAAAACATCATAAACACTAACAATTTTGTGTTTATAATTCACTTTTCAAAAATCAGGATGGTATAGGCAAAACCAAAATGCAGTTTTGGTATTTGTGTTCATTACACTATACAAGTCTAA... | TTTGTAAAAGTAAATTGAACATTTATGTACAGTGTTAAAACCTTTGACATAAACCAGATCTAAATTTGATGTCTAGTATTTATTTTTCTTTAAATTATCTCTTATTTAAAGAACTACTTTCTCTGGATTGTTGAGGGGAATCGCTTATAATTACATTACATTTTTAATATGCATAAAGTTTCTCTGACATCCTTTATGATAAAAACATCATAAACACTAACAATTTTGTGTTTATAATTCACTTTTCAAAAATCAGGATGGTATAGGCAAAACCAAAATGCAGTTTTGGTATTTGTGTTCATTACACTATACAAGTCTAA... |
Task1_train_27773 | Here’s a variant in BFSP1 (beaded filament structural protein 1) located on Chromosome 20. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Cataract 33 | CAAACCTTTTAATGGTGCATCTTCCAGAGCTCCGTTGGTTTTGTCTTTTGTTATAATCTCTTTTCTCCTTGGAACATTCTTGGGGAGGGCTTTTTGTCTTGGTTTTGCTGCTGTTATATCCTGCAGAGCTCTGGTAAGATCTGGAAAAACACACAGGCAGAAATTCAAGTATAATTGTCACTGAGAGAGAAAGAAAATACGCTGGTTGGAAAATAGGCTAACTCTCTCGGAAACAAACGCCTATAGTACTAGGGTGGGGCTTCCTTCATCTGGAGCAGAAGCAATGGAAGAAAGGCCCTGGCTTTGTTGCTCCATGGCCC... | CAAACCTTTTAATGGTGCATCTTCCAGAGCTCCGTTGGTTTTGTCTTTTGTTATAATCTCTTTTCTCCTTGGAACATTCTTGGGGAGGGCTTTTTGTCTTGGTTTTGCTGCTGTTATATCCTGCAGAGCTCTGGTAAGATCTGGAAAAACACACAGGCAGAAATTCAAGTATAATTGTCACTGAGAGAGAAAGAAAATACGCTGGTTGGAAAATAGGCTAACTCTCTCGGAAACAAACGCCTATAGTACTAGGGTGGGGCTTCCTTCATCTGGAGCAGAAGCAATGGAAGAAAGGCCCTGGCTTTGTTGCTCCATGGCCC... |
Task1_train_27774 | Given a variant located on Chromosome 20 and affecting MGME1 (mitochondrial genome maintenance exonuclease 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Mitochondrial DNA depletion syndrome 11 | CTGCCTGTCCAGCTTTTTGCTTTGGGGCAAATTAACAGCACTGCCTGGTGGGATAGGGCCTCATTCATTAAAATGGGGGTAACTTACAATCCCTATTTTGCTGGGTTGTTGGGTTTGAAAATTAAATAATGTTTTGAAAGCTCCAAGGCCATTGCTTAGCATAACAGTCCCCCCTCTTTCTCTCCTCTTACTAAGAAACAAGTGAATATATTTCTTGTGTTTGTTGAGTCTCTTTGTGTGTTTTTTTTTTTTTTTTTTTTTTTGAGATTGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACT... | CTGCCTGTCCAGCTTTTTGCTTTGGGGCAAATTAACAGCACTGCCTGGTGGGATAGGGCCTCATTCATTAAAATGGGGGTAACTTACAATCCCTATTTTGCTGGGTTGTTGGGTTTGAAAATTAAATAATGTTTTGAAAGCTCCAAGGCCATTGCTTAGCATAACAGTCCCCCCTCTTTCTCTCCTCTTACTAAGAAACAAGTGAATATATTTCTTGTGTTTGTTGAGTCTCTTTGTGTGTTTTTTTTTTTTTTTTTTTTTTTGAGATTGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACT... |
Task1_train_27775 | A variant on Chromosome 20 in gene SEC23B (SEC23 homolog B, COPII coat complex component) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Congenital dyserythropoietic anemia, type II | CTCCCTGCCGCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAGGTCATCCACCGGCCTCGGTCGCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCCAGTGCCTTTTAATAAAGAACGTTTTGAGAGAGAGACGGTTATTTAATGAAATCTGCTGACATACTTGCTGAGAGTTGTGATAGAACTTGCTTTCATTCCGACTTTAGTTATCCCTTTGCTTCC... | CTCCCTGCCGCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAGGTCATCCACCGGCCTCGGTCGCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCCAGTGCCTTTTAATAAAGAACGTTTTGAGAGAGAGACGGTTATTTAATGAAATCTGCTGACATACTTGCTGAGAGTTGTGATAGAACTTGCTTTCATTCCGACTTTAGTTATCCCTTTGCTTCC... |
Task1_train_27776 | Here is a genetic alteration in SEC23B (SEC23 homolog B, COPII coat complex component) on Chromosome 20. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Cowden syndrome 7 | CTCCCTGCCGCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAGGTCATCCACCGGCCTCGGTCGCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCCAGTGCCTTTTAATAAAGAACGTTTTGAGAGAGAGACGGTTATTTAATGAAATCTGCTGACATACTTGCTGAGAGTTGTGATAGAACTTGCTTTCATTCCGACTTTAGTTATCCCTTTGCTTCC... | CTCCCTGCCGCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAGGTCATCCACCGGCCTCGGTCGCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCCAGTGCCTTTTAATAAAGAACGTTTTGAGAGAGAGACGGTTATTTAATGAAATCTGCTGACATACTTGCTGAGAGTTGTGATAGAACTTGCTTTCATTCCGACTTTAGTTATCCCTTTGCTTCC... |
Task1_train_27777 | This alteration occurs within gene SEC23B (SEC23 homolog B, COPII coat complex component) located on Chromosome 20. Is it associated with a disease or is it a benign variant? | Pathogenic; Congenital dyserythropoietic anemia, type II | CTCCCTGCCGCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAGGTCATCCACCGGCCTCGGTCGCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCCAGTGCCTTTTAATAAAGAACGTTTTGAGAGAGAGACGGTTATTTAATGAAATCTGCTGACATACTTGCTGAGAGTTGTGATAGAACTTGCTTTCATTCCGACTTTAGTTATCCCTTTGCTTCC... | CTCCCTGCCGCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAGGTCATCCACCGGCCTCGGTCGCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCCAGTGCCTTTTAATAAAGAACGTTTTGAGAGAGAGACGGTTATTTAATGAAATCTGCTGACATACTTGCTGAGAGTTGTGATAGAACTTGCTTTCATTCCGACTTTAGTTATCCCTTTGCTTCC... |
Task1_train_27778 | A change on Chromosome 20 affects gene SEC23B (SEC23 homolog B, COPII coat complex component). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Congenital dyserythropoietic anemia, type II | TTGATGACTGACCATAGGTTCGGAAACTATAAGCAGATGTCATTTAAAATATATCTTCATGAGAGATTCAGAAGTATATAGAAATCTTAAAAGCATTTCTGCTCCCTATTACATTTAGGATTAATGTCTTTGTTTAATATAATTTATTATAGTAATTCTAAGGCAGGGTAGCATAGTGGCTAAAGAGCCAGAGATCTGTAGCCAGACTGCCTGGGTTTGGCTCTCAGATCTACCACTTATTTCCTGTGTAACTTTGGGTAGGTCACTTAACTGCCTGTGCCTCAACTTCCTTGTCTTTAAAATTAGGATGATAGTATAGT... | TTGATGACTGACCATAGGTTCGGAAACTATAAGCAGATGTCATTTAAAATATATCTTCATGAGAGATTCAGAAGTATATAGAAATCTTAAAAGCATTTCTGCTCCCTATTACATTTAGGATTAATGTCTTTGTTTAATATAATTTATTATAGTAATTCTAAGGCAGGGTAGCATAGTGGCTAAAGAGCCAGAGATCTGTAGCCAGACTGCCTGGGTTTGGCTCTCAGATCTACCACTTATTTCCTGTGTAACTTTGGGTAGGTCACTTAACTGCCTGTGCCTCAACTTCCTTGTCTTTAAAATTAGGATGATAGTATAGT... |
Task1_train_27779 | An alteration has been detected in SEC23B (SEC23 homolog B, COPII coat complex component) on Chromosome 20. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Cowden syndrome 7 | TTGATGACTGACCATAGGTTCGGAAACTATAAGCAGATGTCATTTAAAATATATCTTCATGAGAGATTCAGAAGTATATAGAAATCTTAAAAGCATTTCTGCTCCCTATTACATTTAGGATTAATGTCTTTGTTTAATATAATTTATTATAGTAATTCTAAGGCAGGGTAGCATAGTGGCTAAAGAGCCAGAGATCTGTAGCCAGACTGCCTGGGTTTGGCTCTCAGATCTACCACTTATTTCCTGTGTAACTTTGGGTAGGTCACTTAACTGCCTGTGCCTCAACTTCCTTGTCTTTAAAATTAGGATGATAGTATAGT... | TTGATGACTGACCATAGGTTCGGAAACTATAAGCAGATGTCATTTAAAATATATCTTCATGAGAGATTCAGAAGTATATAGAAATCTTAAAAGCATTTCTGCTCCCTATTACATTTAGGATTAATGTCTTTGTTTAATATAATTTATTATAGTAATTCTAAGGCAGGGTAGCATAGTGGCTAAAGAGCCAGAGATCTGTAGCCAGACTGCCTGGGTTTGGCTCTCAGATCTACCACTTATTTCCTGTGTAACTTTGGGTAGGTCACTTAACTGCCTGTGCCTCAACTTCCTTGTCTTTAAAATTAGGATGATAGTATAGT... |
Task1_train_27780 | This gene mutation involves SEC23B (SEC23 homolog B, COPII coat complex component) on Chromosome 20. Is it associated with any clinical condition, or is it benign? | Pathogenic; Congenital dyserythropoietic anemia, type II | TTGATGACTGACCATAGGTTCGGAAACTATAAGCAGATGTCATTTAAAATATATCTTCATGAGAGATTCAGAAGTATATAGAAATCTTAAAAGCATTTCTGCTCCCTATTACATTTAGGATTAATGTCTTTGTTTAATATAATTTATTATAGTAATTCTAAGGCAGGGTAGCATAGTGGCTAAAGAGCCAGAGATCTGTAGCCAGACTGCCTGGGTTTGGCTCTCAGATCTACCACTTATTTCCTGTGTAACTTTGGGTAGGTCACTTAACTGCCTGTGCCTCAACTTCCTTGTCTTTAAAATTAGGATGATAGTATAGT... | TTGATGACTGACCATAGGTTCGGAAACTATAAGCAGATGTCATTTAAAATATATCTTCATGAGAGATTCAGAAGTATATAGAAATCTTAAAAGCATTTCTGCTCCCTATTACATTTAGGATTAATGTCTTTGTTTAATATAATTTATTATAGTAATTCTAAGGCAGGGTAGCATAGTGGCTAAAGAGCCAGAGATCTGTAGCCAGACTGCCTGGGTTTGGCTCTCAGATCTACCACTTATTTCCTGTGTAACTTTGGGTAGGTCACTTAACTGCCTGTGCCTCAACTTCCTTGTCTTTAAAATTAGGATGATAGTATAGT... |
Task1_train_27781 | A variant on Chromosome 20 in gene SEC23B (SEC23 homolog B, COPII coat complex component) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; See cases | TTGATGACTGACCATAGGTTCGGAAACTATAAGCAGATGTCATTTAAAATATATCTTCATGAGAGATTCAGAAGTATATAGAAATCTTAAAAGCATTTCTGCTCCCTATTACATTTAGGATTAATGTCTTTGTTTAATATAATTTATTATAGTAATTCTAAGGCAGGGTAGCATAGTGGCTAAAGAGCCAGAGATCTGTAGCCAGACTGCCTGGGTTTGGCTCTCAGATCTACCACTTATTTCCTGTGTAACTTTGGGTAGGTCACTTAACTGCCTGTGCCTCAACTTCCTTGTCTTTAAAATTAGGATGATAGTATAGT... | TTGATGACTGACCATAGGTTCGGAAACTATAAGCAGATGTCATTTAAAATATATCTTCATGAGAGATTCAGAAGTATATAGAAATCTTAAAAGCATTTCTGCTCCCTATTACATTTAGGATTAATGTCTTTGTTTAATATAATTTATTATAGTAATTCTAAGGCAGGGTAGCATAGTGGCTAAAGAGCCAGAGATCTGTAGCCAGACTGCCTGGGTTTGGCTCTCAGATCTACCACTTATTTCCTGTGTAACTTTGGGTAGGTCACTTAACTGCCTGTGCCTCAACTTCCTTGTCTTTAAAATTAGGATGATAGTATAGT... |
Task1_train_27782 | With a mutation on Chromosome 20 in gene SEC23B (SEC23 homolog B, COPII coat complex component), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Cowden syndrome 7 | GAGTGACCAGGTGCATTGTCAGTGAGCAGTAATATTTTGAAAGGAGTCTTTTTTTTCCTGAGCAGCAGGTCTCAACAGTGGGCTTTAAATATTTAGTAATTGCTGTACACAGATGTGCTGTCATCCAGGCTTTGTTGTTCCTTTTGTAGAGCACAGGAAGCGTAGATTGAGCACAATTCTTAAGAGTCCTAGGATACTTGGAATGGTAAATGAGCATTGGCTTCAACTTAAAGTCACCAGATGCCCAGGTATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATTGCTTGATCTCAGGAGC... | GAGTGACCAGGTGCATTGTCAGTGAGCAGTAATATTTTGAAAGGAGTCTTTTTTTTCCTGAGCAGCAGGTCTCAACAGTGGGCTTTAAATATTTAGTAATTGCTGTACACAGATGTGCTGTCATCCAGGCTTTGTTGTTCCTTTTGTAGAGCACAGGAAGCGTAGATTGAGCACAATTCTTAAGAGTCCTAGGATACTTGGAATGGTAAATGAGCATTGGCTTCAACTTAAAGTCACCAGATGCCCAGGTATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATTGCTTGATCTCAGGAGC... |
Task1_train_27783 | The gene SEC23B (SEC23 homolog B, COPII coat complex component) is located on Chromosome 20, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Congenital dyserythropoietic anemia, type II | GAGTGACCAGGTGCATTGTCAGTGAGCAGTAATATTTTGAAAGGAGTCTTTTTTTTCCTGAGCAGCAGGTCTCAACAGTGGGCTTTAAATATTTAGTAATTGCTGTACACAGATGTGCTGTCATCCAGGCTTTGTTGTTCCTTTTGTAGAGCACAGGAAGCGTAGATTGAGCACAATTCTTAAGAGTCCTAGGATACTTGGAATGGTAAATGAGCATTGGCTTCAACTTAAAGTCACCAGATGCCCAGGTATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATTGCTTGATCTCAGGAGC... | GAGTGACCAGGTGCATTGTCAGTGAGCAGTAATATTTTGAAAGGAGTCTTTTTTTTCCTGAGCAGCAGGTCTCAACAGTGGGCTTTAAATATTTAGTAATTGCTGTACACAGATGTGCTGTCATCCAGGCTTTGTTGTTCCTTTTGTAGAGCACAGGAAGCGTAGATTGAGCACAATTCTTAAGAGTCCTAGGATACTTGGAATGGTAAATGAGCATTGGCTTCAACTTAAAGTCACCAGATGCCCAGGTATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATTGCTTGATCTCAGGAGC... |
Task1_train_27784 | A variant has been detected on Chromosome 20 in SEC23B (SEC23 homolog B, COPII coat complex component). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Congenital dyserythropoietic anemia, type II | GAGTGACCAGGTGCATTGTCAGTGAGCAGTAATATTTTGAAAGGAGTCTTTTTTTTCCTGAGCAGCAGGTCTCAACAGTGGGCTTTAAATATTTAGTAATTGCTGTACACAGATGTGCTGTCATCCAGGCTTTGTTGTTCCTTTTGTAGAGCACAGGAAGCGTAGATTGAGCACAATTCTTAAGAGTCCTAGGATACTTGGAATGGTAAATGAGCATTGGCTTCAACTTAAAGTCACCAGATGCCCAGGTATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATTGCTTGATCTCAGGAGC... | GAGTGACCAGGTGCATTGTCAGTGAGCAGTAATATTTTGAAAGGAGTCTTTTTTTTCCTGAGCAGCAGGTCTCAACAGTGGGCTTTAAATATTTAGTAATTGCTGTACACAGATGTGCTGTCATCCAGGCTTTGTTGTTCCTTTTGTAGAGCACAGGAAGCGTAGATTGAGCACAATTCTTAAGAGTCCTAGGATACTTGGAATGGTAAATGAGCATTGGCTTCAACTTAAAGTCACCAGATGCCCAGGTATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATTGCTTGATCTCAGGAGC... |
Task1_train_27785 | The gene SEC23B (SEC23 homolog B, COPII coat complex component) on Chromosome 20 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Congenital dyserythropoietic anemia, type II | GATCTTAGCTAATCTGAATAACTTGCAGCAGTTTCTACATCAGCACATGCTGCTTCACCTTGTGCCATTATGTTATGGAGATGGCTTCTTTCCCTAAACCTCAGGAACCAACCTCTGCCAGCTTCCAGCTTTCTCCTGCAGCTTCCTTACCTCTCTCCACCTTCATAAATTGAAGAGAGTTGGGACCTTGCTCTGGATTAGGCCCTGGCTTAAGGGAATGTTGTATCTGGTTTGATTTTCTATTCAGACTACTAAAACATTCTCCACATCAGCAATAAGGCTGTTTCACTTTCTTATCATTCACGTGTTCACTTTTAATT... | GATCTTAGCTAATCTGAATAACTTGCAGCAGTTTCTACATCAGCACATGCTGCTTCACCTTGTGCCATTATGTTATGGAGATGGCTTCTTTCCCTAAACCTCAGGAACCAACCTCTGCCAGCTTCCAGCTTTCTCCTGCAGCTTCCTTACCTCTCTCCACCTTCATAAATTGAAGAGAGTTGGGACCTTGCTCTGGATTAGGCCCTGGCTTAAGGGAATGTTGTATCTGGTTTGATTTTCTATTCAGACTACTAAAACATTCTCCACATCAGCAATAAGGCTGTTTCACTTTCTTATCATTCACGTGTTCACTTTTAATT... |
Task1_train_27786 | This mutation is located in gene SEC23B (SEC23 homolog B, COPII coat complex component) on Chromosome 20. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Cowden syndrome 7 | GATCTTAGCTAATCTGAATAACTTGCAGCAGTTTCTACATCAGCACATGCTGCTTCACCTTGTGCCATTATGTTATGGAGATGGCTTCTTTCCCTAAACCTCAGGAACCAACCTCTGCCAGCTTCCAGCTTTCTCCTGCAGCTTCCTTACCTCTCTCCACCTTCATAAATTGAAGAGAGTTGGGACCTTGCTCTGGATTAGGCCCTGGCTTAAGGGAATGTTGTATCTGGTTTGATTTTCTATTCAGACTACTAAAACATTCTCCACATCAGCAATAAGGCTGTTTCACTTTCTTATCATTCACGTGTTCACTTTTAATT... | GATCTTAGCTAATCTGAATAACTTGCAGCAGTTTCTACATCAGCACATGCTGCTTCACCTTGTGCCATTATGTTATGGAGATGGCTTCTTTCCCTAAACCTCAGGAACCAACCTCTGCCAGCTTCCAGCTTTCTCCTGCAGCTTCCTTACCTCTCTCCACCTTCATAAATTGAAGAGAGTTGGGACCTTGCTCTGGATTAGGCCCTGGCTTAAGGGAATGTTGTATCTGGTTTGATTTTCTATTCAGACTACTAAAACATTCTCCACATCAGCAATAAGGCTGTTTCACTTTCTTATCATTCACGTGTTCACTTTTAATT... |
Task1_train_27787 | Here is a mutation in SEC23B (SEC23 homolog B, COPII coat complex component) on Chromosome 20. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Congenital dyserythropoietic anemia, type II | GATCTTAGCTAATCTGAATAACTTGCAGCAGTTTCTACATCAGCACATGCTGCTTCACCTTGTGCCATTATGTTATGGAGATGGCTTCTTTCCCTAAACCTCAGGAACCAACCTCTGCCAGCTTCCAGCTTTCTCCTGCAGCTTCCTTACCTCTCTCCACCTTCATAAATTGAAGAGAGTTGGGACCTTGCTCTGGATTAGGCCCTGGCTTAAGGGAATGTTGTATCTGGTTTGATTTTCTATTCAGACTACTAAAACATTCTCCACATCAGCAATAAGGCTGTTTCACTTTCTTATCATTCACGTGTTCACTTTTAATT... | GATCTTAGCTAATCTGAATAACTTGCAGCAGTTTCTACATCAGCACATGCTGCTTCACCTTGTGCCATTATGTTATGGAGATGGCTTCTTTCCCTAAACCTCAGGAACCAACCTCTGCCAGCTTCCAGCTTTCTCCTGCAGCTTCCTTACCTCTCTCCACCTTCATAAATTGAAGAGAGTTGGGACCTTGCTCTGGATTAGGCCCTGGCTTAAGGGAATGTTGTATCTGGTTTGATTTTCTATTCAGACTACTAAAACATTCTCCACATCAGCAATAAGGCTGTTTCACTTTCTTATCATTCACGTGTTCACTTTTAATT... |
Task1_train_27788 | A variant has been detected on Chromosome 20 in SEC23B (SEC23 homolog B, COPII coat complex component). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Congenital dyserythropoietic anemia, type II | ATAACTTGCAGCAGTTTCTACATCAGCACATGCTGCTTCACCTTGTGCCATTATGTTATGGAGATGGCTTCTTTCCCTAAACCTCAGGAACCAACCTCTGCCAGCTTCCAGCTTTCTCCTGCAGCTTCCTTACCTCTCTCCACCTTCATAAATTGAAGAGAGTTGGGACCTTGCTCTGGATTAGGCCCTGGCTTAAGGGAATGTTGTATCTGGTTTGATTTTCTATTCAGACTACTAAAACATTCTCCACATCAGCAATAAGGCTGTTTCACTTTCTTATCATTCACGTGTTCACTTTTAATTTCCTTCAAGAACTTTTT... | ATAACTTGCAGCAGTTTCTACATCAGCACATGCTGCTTCACCTTGTGCCATTATGTTATGGAGATGGCTTCTTTCCCTAAACCTCAGGAACCAACCTCTGCCAGCTTCCAGCTTTCTCCTGCAGCTTCCTTACCTCTCTCCACCTTCATAAATTGAAGAGAGTTGGGACCTTGCTCTGGATTAGGCCCTGGCTTAAGGGAATGTTGTATCTGGTTTGATTTTCTATTCAGACTACTAAAACATTCTCCACATCAGCAATAAGGCTGTTTCACTTTCTTATCATTCACGTGTTCACTTTTAATTTCCTTCAAGAACTTTTT... |
Task1_train_27789 | The gene SEC23B (SEC23 homolog B, COPII coat complex component) is located on Chromosome 20, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Congenital dyserythropoietic anemia, type II | ATAACTTGCAGCAGTTTCTACATCAGCACATGCTGCTTCACCTTGTGCCATTATGTTATGGAGATGGCTTCTTTCCCTAAACCTCAGGAACCAACCTCTGCCAGCTTCCAGCTTTCTCCTGCAGCTTCCTTACCTCTCTCCACCTTCATAAATTGAAGAGAGTTGGGACCTTGCTCTGGATTAGGCCCTGGCTTAAGGGAATGTTGTATCTGGTTTGATTTTCTATTCAGACTACTAAAACATTCTCCACATCAGCAATAAGGCTGTTTCACTTTCTTATCATTCACGTGTTCACTTTTAATTTCCTTCAAGAACTTTTT... | ATAACTTGCAGCAGTTTCTACATCAGCACATGCTGCTTCACCTTGTGCCATTATGTTATGGAGATGGCTTCTTTCCCTAAACCTCAGGAACCAACCTCTGCCAGCTTCCAGCTTTCTCCTGCAGCTTCCTTACCTCTCTCCACCTTCATAAATTGAAGAGAGTTGGGACCTTGCTCTGGATTAGGCCCTGGCTTAAGGGAATGTTGTATCTGGTTTGATTTTCTATTCAGACTACTAAAACATTCTCCACATCAGCAATAAGGCTGTTTCACTTTCTTATCATTCACGTGTTCACTTTTAATTTCCTTCAAGAACTTTTT... |
Task1_train_27790 | This is a variant in SEC23B (SEC23 homolog B, COPII coat complex component), located on Chromosome 20. Is this mutation a likely cause of disease or not? | Pathogenic; Cowden syndrome 7 | ATAACTTGCAGCAGTTTCTACATCAGCACATGCTGCTTCACCTTGTGCCATTATGTTATGGAGATGGCTTCTTTCCCTAAACCTCAGGAACCAACCTCTGCCAGCTTCCAGCTTTCTCCTGCAGCTTCCTTACCTCTCTCCACCTTCATAAATTGAAGAGAGTTGGGACCTTGCTCTGGATTAGGCCCTGGCTTAAGGGAATGTTGTATCTGGTTTGATTTTCTATTCAGACTACTAAAACATTCTCCACATCAGCAATAAGGCTGTTTCACTTTCTTATCATTCACGTGTTCACTTTTAATTTCCTTCAAGAACTTTTT... | ATAACTTGCAGCAGTTTCTACATCAGCACATGCTGCTTCACCTTGTGCCATTATGTTATGGAGATGGCTTCTTTCCCTAAACCTCAGGAACCAACCTCTGCCAGCTTCCAGCTTTCTCCTGCAGCTTCCTTACCTCTCTCCACCTTCATAAATTGAAGAGAGTTGGGACCTTGCTCTGGATTAGGCCCTGGCTTAAGGGAATGTTGTATCTGGTTTGATTTTCTATTCAGACTACTAAAACATTCTCCACATCAGCAATAAGGCTGTTTCACTTTCTTATCATTCACGTGTTCACTTTTAATTTCCTTCAAGAACTTTTT... |
Task1_train_27791 | The gene SEC23B (SEC23 homolog B, COPII coat complex component) on Chromosome 20 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | TGGGTGTCTATAAGGATTACAGGAGCTGAGGCCAACTGAGTATTAAATATTTAGCACAATGCCAGTAACCTGTTCAGCACTAAATGTGACCTAGCTCCATAGCAGGTGCCTGGGACTCTGAGGTGTCCATGTGCCAGAGGTTAAAGCTGTGTGGTGTTGTGAGAAGAGCCCTGGACCGGCCAGAGTCAGGTTGAGGTTCCAGTGCTGGCTCCGCAGGGGCTGACCTTAGAGGAGGTTCCAAAGCCCCGTAGAGTTTGGTTTCCCACCTCTAGCAGTGGGGAGTTGGTCTGGTGAAGTGGTTTGCAGTTTTTTTTTTTTTT... | TGGGTGTCTATAAGGATTACAGGAGCTGAGGCCAACTGAGTATTAAATATTTAGCACAATGCCAGTAACCTGTTCAGCACTAAATGTGACCTAGCTCCATAGCAGGTGCCTGGGACTCTGAGGTGTCCATGTGCCAGAGGTTAAAGCTGTGTGGTGTTGTGAGAAGAGCCCTGGACCGGCCAGAGTCAGGTTGAGGTTCCAGTGCTGGCTCCGCAGGGGCTGACCTTAGAGGAGGTTCCAAAGCCCCGTAGAGTTTGGTTTCCCACCTCTAGCAGTGGGGAGTTGGTCTGGTGAAGTGGTTTGCAGTTTTTTTTTTTTTT... |
Task1_train_27792 | A mutation in NAA20 (N-alpha-acetyltransferase 20, NatB catalytic subunit), located on Chromosome 20, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Intellectual developmental disorder, autosomal recessive 73 | AAGAGTTCAGTCTCATCAGTCAAAAGACATGTAAACTAAAACCAAAATGAGATGCCATATTTTATGTATCAGCCAAGATTTTAAAAAATGATAAACCTCAGTGCTGATGATGGTGAGGTGAGAGGAACATTCTCATAAATTGCTAGTGACAATATAAATTGCTATTATCTTTCCAGAAGGCACTTTGGAAATAGTAATTCCATTTCCTGAAAGCTGAAAATAAGAAGAAATAGAGGCAGTTTGTCAGTGGTTGACAAAATAAGGCCCATAGGCCAAATCTGGCCCACTGCCTGTTTTTGTAAATAAAATGTTATTGGGAC... | AAGAGTTCAGTCTCATCAGTCAAAAGACATGTAAACTAAAACCAAAATGAGATGCCATATTTTATGTATCAGCCAAGATTTTAAAAAATGATAAACCTCAGTGCTGATGATGGTGAGGTGAGAGGAACATTCTCATAAATTGCTAGTGACAATATAAATTGCTATTATCTTTCCAGAAGGCACTTTGGAAATAGTAATTCCATTTCCTGAAAGCTGAAAATAAGAAGAAATAGAGGCAGTTTGTCAGTGGTTGACAAAATAAGGCCCATAGGCCAAATCTGGCCCACTGCCTGTTTTTGTAAATAAAATGTTATTGGGAC... |
Task1_train_27793 | Gene NAA20 (N-alpha-acetyltransferase 20, NatB catalytic subunit), found on Chromosome 20, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Intellectual developmental disorder, autosomal recessive 73 | TCAAAATAATGATGGTCCTTCAGAGGAGATTTTGAAGAATTTCGCACGGAACAGGTTTTCCAGGAACTTAAAAAATATATTTATGTGTGATTGATGGTGTCCTCTGATAAATTGCATCAGAAAGTTTATACTAACAAGAAATATATTTTCATCCATTAAAGTACAGAGTAAAAAGAAGAAGAGAAATGTAGGAATGATTACATGTCAGTAAGGATATCCCAAGGTTGAAGAGTGAAGTCATGAGCAAATTATTCAGGCATTTACTGTTAACATAGTTGATTCCTTAAGTCAGCTTTTATCTGCATTACTAGAAATGCAGG... | TCAAAATAATGATGGTCCTTCAGAGGAGATTTTGAAGAATTTCGCACGGAACAGGTTTTCCAGGAACTTAAAAAATATATTTATGTGTGATTGATGGTGTCCTCTGATAAATTGCATCAGAAAGTTTATACTAACAAGAAATATATTTTCATCCATTAAAGTACAGAGTAAAAAGAAGAAGAGAAATGTAGGAATGATTACATGTCAGTAAGGATATCCCAAGGTTGAAGAGTGAAGTCATGAGCAAATTATTCAGGCATTTACTGTTAACATAGTTGATTCCTTAAGTCAGCTTTTATCTGCATTACTAGAAATGCAGG... |
Task1_train_27794 | The gene CFAP61 (cilia and flagella associated protein 61) on Chromosome 20 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Spermatogenic failure 84 | ATGAGTGAAAGATTAAATGATCAATTTGGGTGGCTGGCATGGGTATCCTTGACAGTTGTGCTTGTATGTTTCTCCATGGCATCTCCCCTGTCACTGGTAATGCCACCGCCCCTCTTTTTGATTGGGAGGGATGGCAGTATCTGGCTTCCCCTTGTGTGCTTGAATGGAGTACCAGCCGGCAGGCAGGGACTCCAGGTGACCCAAGGTAAGAAGGTTTCACCTAGTGGTAGGGTTTCCTTCCAGTGTAAAACTGCCTTACTTTTTTGTCCTCCATTATGCTCTCATTACACCAAAAATAATTTTTGTTGTTGTTATTTTAA... | ATGAGTGAAAGATTAAATGATCAATTTGGGTGGCTGGCATGGGTATCCTTGACAGTTGTGCTTGTATGTTTCTCCATGGCATCTCCCCTGTCACTGGTAATGCCACCGCCCCTCTTTTTGATTGGGAGGGATGGCAGTATCTGGCTTCCCCTTGTGTGCTTGAATGGAGTACCAGCCGGCAGGCAGGGACTCCAGGTGACCCAAGGTAAGAAGGTTTCACCTAGTGGTAGGGTTTCCTTCCAGTGTAAAACTGCCTTACTTTTTTGTCCTCCATTATGCTCTCATTACACCAAAAATAATTTTTGTTGTTGTTATTTTAA... |
Task1_train_27795 | This variant affects gene CFAP61 (cilia and flagella associated protein 61) located on Chromosome 20. Evaluate its biological effect and specify any disease association. | Pathogenic; Spermatogenic failure 84 | TTAAATGATCAATTTGGGTGGCTGGCATGGGTATCCTTGACAGTTGTGCTTGTATGTTTCTCCATGGCATCTCCCCTGTCACTGGTAATGCCACCGCCCCTCTTTTTGATTGGGAGGGATGGCAGTATCTGGCTTCCCCTTGTGTGCTTGAATGGAGTACCAGCCGGCAGGCAGGGACTCCAGGTGACCCAAGGTAAGAAGGTTTCACCTAGTGGTAGGGTTTCCTTCCAGTGTAAAACTGCCTTACTTTTTTGTCCTCCATTATGCTCTCATTACACCAAAAATAATTTTTGTTGTTGTTATTTTAAGGGATTTGGGAT... | TTAAATGATCAATTTGGGTGGCTGGCATGGGTATCCTTGACAGTTGTGCTTGTATGTTTCTCCATGGCATCTCCCCTGTCACTGGTAATGCCACCGCCCCTCTTTTTGATTGGGAGGGATGGCAGTATCTGGCTTCCCCTTGTGTGCTTGAATGGAGTACCAGCCGGCAGGCAGGGACTCCAGGTGACCCAAGGTAAGAAGGTTTCACCTAGTGGTAGGGTTTCCTTCCAGTGTAAAACTGCCTTACTTTTTTGTCCTCCATTATGCTCTCATTACACCAAAAATAATTTTTGTTGTTGTTATTTTAAGGGATTTGGGAT... |
Task1_train_27796 | With a mutation on Chromosome 20 in gene CFAP61 (cilia and flagella associated protein 61), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Spermatogenic failure 84 | GGTCTGTAACTTGTAACACATGTTCTTATTAACAATGTTGGATTTGCTTATTCAGTTTTCACTCCAGTCTACAAACTCCTATGAAACCCCAAATGTAGCCAAAATTGTGAATGCCTACACCAAAAGTGTATAAGTAAACATTACTGCAATACTGGTAACCTTTAAAACCCAGAAAAACAAGAACTAGTATATTTAATGTACTACTTAACAAAAAGTAGGCTTAATTAGAGAAAGAAAATTGGGTAGGTAGAAGAACTTCTGTGAGGATGCTGAAGGAGACTTCTAAACATTTTCAAGGGCTCAAGAGGTTGATAGCACTG... | GGTCTGTAACTTGTAACACATGTTCTTATTAACAATGTTGGATTTGCTTATTCAGTTTTCACTCCAGTCTACAAACTCCTATGAAACCCCAAATGTAGCCAAAATTGTGAATGCCTACACCAAAAGTGTATAAGTAAACATTACTGCAATACTGGTAACCTTTAAAACCCAGAAAAACAAGAACTAGTATATTTAATGTACTACTTAACAAAAAGTAGGCTTAATTAGAGAAAGAAAATTGGGTAGGTAGAAGAACTTCTGTGAGGATGCTGAAGGAGACTTCTAAACATTTTCAAGGGCTCAAGAGGTTGATAGCACTG... |
Task1_train_27797 | A variant was discovered on Chromosome 20, affecting KIZ, LOC130065507 (kizuna centrosomal protein| ATAC-STARR-seq lymphoblastoid silent region 12713). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Retinitis pigmentosa 69 | CACACACATGCTCTTCTAGAACACGTTCTAAGTACCCAACACCCTTACCTTCCCTGCTCAAAGGGGCCCAAGCTGCTTTCTAAGGCTTTAAAAGGCCTCTTGGCTGGGTCTTTCCTGCAAGGGTGACCATCACTGGCATGCTCACTGCCCGGCCAAGAGGAGGCTGAGGTGGGGATGTAGGCAGAGTTGGGACTTGCTGGCTGGAGAAGAGGAGGAGAAGAGGCAGGGCACACACATCCCTGCTAGTGTATGAGACCCCCTCACAAAGCAAGACTGAGCCTGGGGTGGGAAATGGAGTTGGGGGGAGCTGGAGAAGCAGG... | CACACACATGCTCTTCTAGAACACGTTCTAAGTACCCAACACCCTTACCTTCCCTGCTCAAAGGGGCCCAAGCTGCTTTCTAAGGCTTTAAAAGGCCTCTTGGCTGGGTCTTTCCTGCAAGGGTGACCATCACTGGCATGCTCACTGCCCGGCCAAGAGGAGGCTGAGGTGGGGATGTAGGCAGAGTTGGGACTTGCTGGCTGGAGAAGAGGAGGAGAAGAGGCAGGGCACACACATCCCTGCTAGTGTATGAGACCCCCTCACAAAGCAAGACTGAGCCTGGGGTGGGAAATGGAGTTGGGGGGAGCTGGAGAAGCAGG... |
Task1_train_27798 | A variant affecting Chromosome 20, within the gene KIZ, LOC130065507 (kizuna centrosomal protein| ATAC-STARR-seq lymphoblastoid silent region 12713), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | CTTCTAGAACACGTTCTAAGTACCCAACACCCTTACCTTCCCTGCTCAAAGGGGCCCAAGCTGCTTTCTAAGGCTTTAAAAGGCCTCTTGGCTGGGTCTTTCCTGCAAGGGTGACCATCACTGGCATGCTCACTGCCCGGCCAAGAGGAGGCTGAGGTGGGGATGTAGGCAGAGTTGGGACTTGCTGGCTGGAGAAGAGGAGGAGAAGAGGCAGGGCACACACATCCCTGCTAGTGTATGAGACCCCCTCACAAAGCAAGACTGAGCCTGGGGTGGGAAATGGAGTTGGGGGGAGCTGGAGAAGCAGGCAAACTAAATTC... | CTTCTAGAACACGTTCTAAGTACCCAACACCCTTACCTTCCCTGCTCAAAGGGGCCCAAGCTGCTTTCTAAGGCTTTAAAAGGCCTCTTGGCTGGGTCTTTCCTGCAAGGGTGACCATCACTGGCATGCTCACTGCCCGGCCAAGAGGAGGCTGAGGTGGGGATGTAGGCAGAGTTGGGACTTGCTGGCTGGAGAAGAGGAGGAGAAGAGGCAGGGCACACACATCCCTGCTAGTGTATGAGACCCCCTCACAAAGCAAGACTGAGCCTGGGGTGGGAAATGGAGTTGGGGGGAGCTGGAGAAGCAGGCAAACTAAATTC... |
Task1_train_27799 | Here is a genetic alteration in PAX1 (paired box 1) on Chromosome 20. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Otofaciocervical syndrome 2 | GGACACAGTTAGCTGCACAGGTTGGGGAGTTCAGAACTGCTTTGGTGCAGGGTAGAAACAGAGAAATTGTTGATGTTCAATCTCAGGGGTGAATAATTCAGGGCTGCGCAAAACCTCATTTAAATGAAGGAGAAATGACCATTCTGTGGTTTAACAGAGACTTCCTGAAGCTGCAGGTGCTGGGAGAAAGACGAGGCCAGGCCACCTGGGATAGAGTGGTGCGAGATTCCACCGCCAGGGAGAAAGGAACTTGTCCTTCAGACCTAGAGCTGGAGCTATGCATTTGGCCTCCCGCCGGTCGCGCTTGGGGACAGGAGGGC... | GGACACAGTTAGCTGCACAGGTTGGGGAGTTCAGAACTGCTTTGGTGCAGGGTAGAAACAGAGAAATTGTTGATGTTCAATCTCAGGGGTGAATAATTCAGGGCTGCGCAAAACCTCATTTAAATGAAGGAGAAATGACCATTCTGTGGTTTAACAGAGACTTCCTGAAGCTGCAGGTGCTGGGAGAAAGACGAGGCCAGGCCACCTGGGATAGAGTGGTGCGAGATTCCACCGCCAGGGAGAAAGGAACTTGTCCTTCAGACCTAGAGCTGGAGCTATGCATTTGGCCTCCCGCCGGTCGCGCTTGGGGACAGGAGGGC... |
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