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_27300 | A variant found in Chromosome 19 affects ERF (ETS2 repressor factor). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Chitayat syndrome | CTCCGCCCCCCACCCCCCAACACATGGAATTTTTGGTTCATTATAAAATTGTCCCTCCCTCCCCTGCTGTGACCTTGTGGGGTATGAGAAACCTAGGCACTCATGGCCCCCTGGAGGGGCAGGGCAGGCAGGGCTGGGGCTGAGGAGGGCTGGGAGTGGGGCAGAGCGGGTGGGTCAGAGGGGTACAAGAGGCAGAGAACAGGGAGGGAGACAAGGCTTTACTTCCTAAGCGATTGTAATAGAAAAGTTCCTGGGTGTTAAGGCCAAAGCCTCAATTCAAATATAAATTCCCCAGAATGGAGGTGACCCCCTTAACTTCC... | CTCCGCCCCCCACCCCCCAACACATGGAATTTTTGGTTCATTATAAAATTGTCCCTCCCTCCCCTGCTGTGACCTTGTGGGGTATGAGAAACCTAGGCACTCATGGCCCCCTGGAGGGGCAGGGCAGGCAGGGCTGGGGCTGAGGAGGGCTGGGAGTGGGGCAGAGCGGGTGGGTCAGAGGGGTACAAGAGGCAGAGAACAGGGAGGGAGACAAGGCTTTACTTCCTAAGCGATTGTAATAGAAAAGTTCCTGGGTGTTAAGGCCAAAGCCTCAATTCAAATATAAATTCCCCAGAATGGAGGTGACCCCCTTAACTTCC... |
Task1_train_27301 | Given a variant located on Chromosome 19 and affecting ERF (ETS2 repressor factor), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; ERF-related disorder | CCACCCACCCCCACCATTTTTAAAAAAAAGAAATTAAAGTTTTATACAAAATGTGGGGAGGGAAAAGGGAGGAGGCAGGGAAGAGACAAGAGAGCTGCCCTCACCTCCAGGGCATAGGGGGCTTAAGGCAGCAAAAGAAGCATGGGGGGTGCGGGGCACACAGGTCCCCTGCCCACAGCCCTCAGGAGTCTCGGTGCTCCAGGGAGAGCTGGGCCGTGGCATGCTGGAGGTCAGAGCTCACCCGCCTTGGGGTGAGGGGCCCCCCAGCCTCCCCAGGCCCCTCCCCACGCACCTTCTTGTCCTCACCCTCATCCTCAAAG... | CCACCCACCCCCACCATTTTTAAAAAAAAGAAATTAAAGTTTTATACAAAATGTGGGGAGGGAAAAGGGAGGAGGCAGGGAAGAGACAAGAGAGCTGCCCTCACCTCCAGGGCATAGGGGGCTTAAGGCAGCAAAAGAAGCATGGGGGGTGCGGGGCACACAGGTCCCCTGCCCACAGCCCTCAGGAGTCTCGGTGCTCCAGGGAGAGCTGGGCCGTGGCATGCTGGAGGTCAGAGCTCACCCGCCTTGGGGTGAGGGGCCCCCCAGCCTCCCCAGGCCCCTCCCCACGCACCTTCTTGTCCTCACCCTCATCCTCAAAG... |
Task1_train_27302 | This genomic variant is located on Chromosome 19, within the ERF (ETS2 repressor factor) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; TWIST1-related craniosynostosis | CCACCCACCCCCACCATTTTTAAAAAAAAGAAATTAAAGTTTTATACAAAATGTGGGGAGGGAAAAGGGAGGAGGCAGGGAAGAGACAAGAGAGCTGCCCTCACCTCCAGGGCATAGGGGGCTTAAGGCAGCAAAAGAAGCATGGGGGGTGCGGGGCACACAGGTCCCCTGCCCACAGCCCTCAGGAGTCTCGGTGCTCCAGGGAGAGCTGGGCCGTGGCATGCTGGAGGTCAGAGCTCACCCGCCTTGGGGTGAGGGGCCCCCCAGCCTCCCCAGGCCCCTCCCCACGCACCTTCTTGTCCTCACCCTCATCCTCAAAG... | CCACCCACCCCCACCATTTTTAAAAAAAAGAAATTAAAGTTTTATACAAAATGTGGGGAGGGAAAAGGGAGGAGGCAGGGAAGAGACAAGAGAGCTGCCCTCACCTCCAGGGCATAGGGGGCTTAAGGCAGCAAAAGAAGCATGGGGGGTGCGGGGCACACAGGTCCCCTGCCCACAGCCCTCAGGAGTCTCGGTGCTCCAGGGAGAGCTGGGCCGTGGCATGCTGGAGGTCAGAGCTCACCCGCCTTGGGGTGAGGGGCCCCCCAGCCTCCCCAGGCCCCTCCCCACGCACCTTCTTGTCCTCACCCTCATCCTCAAAG... |
Task1_train_27303 | A sequence alteration has been identified in ERF (ETS2 repressor factor) on Chromosome 19. Is it disease-inducing or harmless? | Pathogenic; Craniosynostosis 4 | CCACCCACCCCCACCATTTTTAAAAAAAAGAAATTAAAGTTTTATACAAAATGTGGGGAGGGAAAAGGGAGGAGGCAGGGAAGAGACAAGAGAGCTGCCCTCACCTCCAGGGCATAGGGGGCTTAAGGCAGCAAAAGAAGCATGGGGGGTGCGGGGCACACAGGTCCCCTGCCCACAGCCCTCAGGAGTCTCGGTGCTCCAGGGAGAGCTGGGCCGTGGCATGCTGGAGGTCAGAGCTCACCCGCCTTGGGGTGAGGGGCCCCCCAGCCTCCCCAGGCCCCTCCCCACGCACCTTCTTGTCCTCACCCTCATCCTCAAAG... | CCACCCACCCCCACCATTTTTAAAAAAAAGAAATTAAAGTTTTATACAAAATGTGGGGAGGGAAAAGGGAGGAGGCAGGGAAGAGACAAGAGAGCTGCCCTCACCTCCAGGGCATAGGGGGCTTAAGGCAGCAAAAGAAGCATGGGGGGTGCGGGGCACACAGGTCCCCTGCCCACAGCCCTCAGGAGTCTCGGTGCTCCAGGGAGAGCTGGGCCGTGGCATGCTGGAGGTCAGAGCTCACCCGCCTTGGGGTGAGGGGCCCCCCAGCCTCCCCAGGCCCCTCCCCACGCACCTTCTTGTCCTCACCCTCATCCTCAAAG... |
Task1_train_27304 | Gene ERF (ETS2 repressor factor), found on Chromosome 19, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; TWIST1-related craniosynostosis | AAAAGGGAGGAGGCAGGGAAGAGACAAGAGAGCTGCCCTCACCTCCAGGGCATAGGGGGCTTAAGGCAGCAAAAGAAGCATGGGGGGTGCGGGGCACACAGGTCCCCTGCCCACAGCCCTCAGGAGTCTCGGTGCTCCAGGGAGAGCTGGGCCGTGGCATGCTGGAGGTCAGAGCTCACCCGCCTTGGGGTGAGGGGCCCCCCAGCCTCCCCAGGCCCCTCCCCACGCACCTTCTTGTCCTCACCCTCATCCTCAAAGCCCCCAGCGGGGCCCCCACCCCCTTCGAGGCGACAGTCTTCACTCCAGCGCCGCTTAAAGCG... | AAAAGGGAGGAGGCAGGGAAGAGACAAGAGAGCTGCCCTCACCTCCAGGGCATAGGGGGCTTAAGGCAGCAAAAGAAGCATGGGGGGTGCGGGGCACACAGGTCCCCTGCCCACAGCCCTCAGGAGTCTCGGTGCTCCAGGGAGAGCTGGGCCGTGGCATGCTGGAGGTCAGAGCTCACCCGCCTTGGGGTGAGGGGCCCCCCAGCCTCCCCAGGCCCCTCCCCACGCACCTTCTTGTCCTCACCCTCATCCTCAAAGCCCCCAGCGGGGCCCCCACCCCCTTCGAGGCGACAGTCTTCACTCCAGCGCCGCTTAAAGCG... |
Task1_train_27305 | A mutation found in ERF (ETS2 repressor factor) on Chromosome 19 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | CACATGGAGAGAGGGGTTCAGGAGACTGCGAGACAGAGTGCAGAAGTGGCAGCAGTCAGACAGCAAGGGCTGGGATGGCGAGGTCCCAGAAGCACACCTGGGTCCCACAGAGGCGGGGTAGGGATTCTCCCAGACAGACTATGCAAGCCTGGGGGGACAAAACTCCTGGGCACCCCCCAACCTCACGTGACGGCCCAAACTTTTTTTAAGGGACTATGAGGGTCGGAAGGGAGGAGTGGTGGCAGAGGAAGAACACGCCGGCCTCCTGGGGGGCCCCACCACCTCCCCCACTCCAGGCGGCCCTCTATGGCGCCAGAGCC... | CACATGGAGAGAGGGGTTCAGGAGACTGCGAGACAGAGTGCAGAAGTGGCAGCAGTCAGACAGCAAGGGCTGGGATGGCGAGGTCCCAGAAGCACACCTGGGTCCCACAGAGGCGGGGTAGGGATTCTCCCAGACAGACTATGCAAGCCTGGGGGGACAAAACTCCTGGGCACCCCCCAACCTCACGTGACGGCCCAAACTTTTTTTAAGGGACTATGAGGGTCGGAAGGGAGGAGTGGTGGCAGAGGAAGAACACGCCGGCCTCCTGGGGGGCCCCACCACCTCCCCCACTCCAGGCGGCCCTCTATGGCGCCAGAGCC... |
Task1_train_27306 | The gene CIC (capicua transcriptional repressor) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Intellectual disability, autosomal dominant 45 | GTCACCTCAGGTCAGGTTGATCCGGATCAAGGGAAGGCCTGGAATGATGGAGAGCAGGGCTAGGGCGGTTCCCTCCTCCCTTCTTCATCTTCCCCGAGCAGGGGCCTCTCTCCTCTGCTGGTTCCACTTCCCCCAGGGAGCCAGGCAGTGTGAGGGGAAGCCCACTGGTATCCTAGGCCCGCCCCAAAAGTCCAGCCAGGGGTAGGTCCCAGCCTAGGGCTTGCTCTTCCACCACCCACCTCTTGGGGCTGAAGGTTGGACCCCTGGGACCAGCCTCTTGGTGAGGAAGCATCTTCCTGTGCATATCCTCAAGGAAACAC... | GTCACCTCAGGTCAGGTTGATCCGGATCAAGGGAAGGCCTGGAATGATGGAGAGCAGGGCTAGGGCGGTTCCCTCCTCCCTTCTTCATCTTCCCCGAGCAGGGGCCTCTCTCCTCTGCTGGTTCCACTTCCCCCAGGGAGCCAGGCAGTGTGAGGGGAAGCCCACTGGTATCCTAGGCCCGCCCCAAAAGTCCAGCCAGGGGTAGGTCCCAGCCTAGGGCTTGCTCTTCCACCACCCACCTCTTGGGGCTGAAGGTTGGACCCCTGGGACCAGCCTCTTGGTGAGGAAGCATCTTCCTGTGCATATCCTCAAGGAAACAC... |
Task1_train_27307 | An alteration has been detected in CIC (capicua transcriptional repressor) on Chromosome 19. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Intellectual disability, autosomal dominant 45 | ACTGTTGTTTAACGAGTGTTTACTATGTGCCTGGCACTACAGGGAATATAAGCTGTAGTCTGCAAAACCCCATTCTATTTCTAGAAGAAGAAACTGAGGTTCAGAGAGGCAAAATCACTTGCTTAAAGTCATAAACAAGCAAATGACAGAGCCAGAATGTAAACCCCAGTTCGGCGGGCCCCCAGCACCATAGTTGGGGCCACTGCAGCTCGCAAACACCCCTGATGGGCTGCTTCCACTTATTGAGGTTGTCTGGTGTGCCTGGCGGTGTTCTGGGGCACATTTTTGGAGTGAGCCTATGGGTATGGCAGTTCTGTGAG... | ACTGTTGTTTAACGAGTGTTTACTATGTGCCTGGCACTACAGGGAATATAAGCTGTAGTCTGCAAAACCCCATTCTATTTCTAGAAGAAGAAACTGAGGTTCAGAGAGGCAAAATCACTTGCTTAAAGTCATAAACAAGCAAATGACAGAGCCAGAATGTAAACCCCAGTTCGGCGGGCCCCCAGCACCATAGTTGGGGCCACTGCAGCTCGCAAACACCCCTGATGGGCTGCTTCCACTTATTGAGGTTGTCTGGTGTGCCTGGCGGTGTTCTGGGGCACATTTTTGGAGTGAGCCTATGGGTATGGCAGTTCTGTGAG... |
Task1_train_27308 | This variant affects the gene MEGF8 (multiple EGF like domains 8) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; MEGF8-related Carpenter syndrome | CTTGTAACCATCACAATAAGCAGAGGTGAGACTCTGGATGGGGACAGAGGGGAACTATGCCGCTCCAAGGTTAGGCCTCTGTTCTGGGGGAAGAAGCTGGACTCTTCTCTTGCAGCTCTATTCAGCGTGGGCCAGGGGTGGTGTCACGGAGGTGCTCTTCTCACTGGGATTATGACCTTGACCCTCCAGCCTGGACATGTCTGAAACTCAGGCATGGACAGGAAGAGAGAGGCATCAGGAACACTGGATTCTGCTCTGTGTGGCCACTGGGATGGGGTTTTCTCTGTACTTAATTTTCCCATCTGAATGGTGGGAGTGTT... | CTTGTAACCATCACAATAAGCAGAGGTGAGACTCTGGATGGGGACAGAGGGGAACTATGCCGCTCCAAGGTTAGGCCTCTGTTCTGGGGGAAGAAGCTGGACTCTTCTCTTGCAGCTCTATTCAGCGTGGGCCAGGGGTGGTGTCACGGAGGTGCTCTTCTCACTGGGATTATGACCTTGACCCTCCAGCCTGGACATGTCTGAAACTCAGGCATGGACAGGAAGAGAGAGGCATCAGGAACACTGGATTCTGCTCTGTGTGGCCACTGGGATGGGGTTTTCTCTGTACTTAATTTTCCCATCTGAATGGTGGGAGTGTT... |
Task1_train_27309 | A genetic alteration is present in MEGF8 (multiple EGF like domains 8) on Chromosome 19. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; MEGF8-related Carpenter syndrome | CTCAGGACCCAGCTCTGCCGCTGCTTATGGGGTGATGTAGTCCCTCACCATCTCTGGACCTCAGTGTCCTTAGTTGAGAGGAAAATAGGATTGCGCCGGCTGAGCTACGTCTGCAGAGAGAAGGGCTGAATGAGACATGTCTCTGGGGCATATAGAATGTGGTTGGTGTGAGGATCCCACACCACTCACTCTTTCCAGCTAGGCAGGAGTGTAGTAGCGCAATCTCAGCTCACTGCAACTTCTGCCTCCTGGGCTCCAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCATGCCACCATGCCTGG... | CTCAGGACCCAGCTCTGCCGCTGCTTATGGGGTGATGTAGTCCCTCACCATCTCTGGACCTCAGTGTCCTTAGTTGAGAGGAAAATAGGATTGCGCCGGCTGAGCTACGTCTGCAGAGAGAAGGGCTGAATGAGACATGTCTCTGGGGCATATAGAATGTGGTTGGTGTGAGGATCCCACACCACTCACTCTTTCCAGCTAGGCAGGAGTGTAGTAGCGCAATCTCAGCTCACTGCAACTTCTGCCTCCTGGGCTCCAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCATGCCACCATGCCTGG... |
Task1_train_27310 | A genetic alteration is present in MEGF8 (multiple EGF like domains 8) on Chromosome 19. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; MEGF8-related Carpenter syndrome | CTCCCTGGTTTCCATCATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGACTACAAGCATGTGCTATCATACCTGGCTAATTTTTTTTTTAGAGATGGGGTTTTAACCATGTTGCCCAGGCTAGTCTTGAACTCCTGAGCTCAAGCAATCCACTCACCTTGGCTTCTCAAAGTGTTGGGATTCTAGGCGTGAGCCACCGTGCCTGGTTGGGCTTTTGGGTTTTTTTTTTTTTTTTTTTTTTTTTGATACAGGGCTTACTCTGTCACCCAGGCTAGAGTATAATGGCGCAATCATAGTTCACTGCAGCCTTGAACTCCTGAG... | CTCCCTGGTTTCCATCATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGACTACAAGCATGTGCTATCATACCTGGCTAATTTTTTTTTTAGAGATGGGGTTTTAACCATGTTGCCCAGGCTAGTCTTGAACTCCTGAGCTCAAGCAATCCACTCACCTTGGCTTCTCAAAGTGTTGGGATTCTAGGCGTGAGCCACCGTGCCTGGTTGGGCTTTTGGGTTTTTTTTTTTTTTTTTTTTTTTTTGATACAGGGCTTACTCTGTCACCCAGGCTAGAGTATAATGGCGCAATCATAGTTCACTGCAGCCTTGAACTCCTGAG... |
Task1_train_27311 | Given this context: Chromosome 19, gene ETHE1 (ETHE1 persulfide dioxygenase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Ethylmalonic encephalopathy | AAGGAGAGGTGCAGTGTCATTGCCGCCCTCTCCTCCCACCTAGTGCATTAATAGTGGATGGGAGCATCTGACAGAAGTGAGATCAGGCAGTGGGTGTCTGCACCCCACAGCGCATGTTGGCTGGAACAGCAAAGTCTGAAAGGAAGAAATCAAGGTTAAAACTAAGGGGCCTAGGTAGAGTTCCAGGCCCCACTGGAGACCCAGAAATCCTAGGAACCTTTCCTCTTCAGGAAACTAGAGTTTTGGTCCTGAGCCCACTCCTTCCCTCAGACCCAGGAGTCCAGTACCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCA... | AAGGAGAGGTGCAGTGTCATTGCCGCCCTCTCCTCCCACCTAGTGCATTAATAGTGGATGGGAGCATCTGACAGAAGTGAGATCAGGCAGTGGGTGTCTGCACCCCACAGCGCATGTTGGCTGGAACAGCAAAGTCTGAAAGGAAGAAATCAAGGTTAAAACTAAGGGGCCTAGGTAGAGTTCCAGGCCCCACTGGAGACCCAGAAATCCTAGGAACCTTTCCTCTTCAGGAAACTAGAGTTTTGGTCCTGAGCCCACTCCTTCCCTCAGACCCAGGAGTCCAGTACCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCA... |
Task1_train_27312 | This genomic variant is located on Chromosome 19, within the ETHE1 (ETHE1 persulfide dioxygenase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Ethylmalonic encephalopathy | AGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCCCTCCAGCCTGGGAGATAGAGCGCGGCTCTGTCTCAAGAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGAATCACAAAGTCAGGAGATCGAGACCATCCTGGCTAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCTGGCGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAG... | AGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCCCTCCAGCCTGGGAGATAGAGCGCGGCTCTGTCTCAAGAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGAATCACAAAGTCAGGAGATCGAGACCATCCTGGCTAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCTGGCGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAG... |
Task1_train_27313 | This alteration occurs within gene ETHE1 (ETHE1 persulfide dioxygenase) located on Chromosome 19. Is it associated with a disease or is it a benign variant? | Pathogenic; Ethylmalonic encephalopathy | GAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCCCTCCAGCCTGGGAGATAGAGCGCGGCTCTGTCTCAAGAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGAATCACAAAGTCAGGAGATCGAGACCATCCTGGCTAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCTGGCGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGG... | GAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCCCTCCAGCCTGGGAGATAGAGCGCGGCTCTGTCTCAAGAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGAATCACAAAGTCAGGAGATCGAGACCATCCTGGCTAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCTGGCGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGG... |
Task1_train_27314 | A mutation on Chromosome 19 affecting ETHE1 (ETHE1 persulfide dioxygenase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Ethylmalonic encephalopathy | CTCTGTCTCAAGAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGAATCACAAAGTCAGGAGATCGAGACCATCCTGGCTAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCTGGCGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAGAAG... | CTCTGTCTCAAGAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGAATCACAAAGTCAGGAGATCGAGACCATCCTGGCTAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCTGGCGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAGAAG... |
Task1_train_27315 | Here is a mutation in ETHE1, LOC130064595 (ETHE1 persulfide dioxygenase| ATAC-STARR-seq lymphoblastoid silent region 10721) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Ethylmalonic encephalopathy | AAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAAAAAAAAAACACTGAAGCTAAATCTACCATAGCTAAACCCTTCGTTCATTTCAAGACATGTTTGTTAGCACCTATTATGTACAATGTACATACATGTACAATGCATTTTTGCCTGCTTCCAGAGAAAGGCTTGAAATAAAGCTTCTGTAACCATTGTAGCTGAACTCTCTTCCCACACACAGCCCTCATTTCCTCTAAACACTCTGACTCAAATGAACTGTCCCTATTTGGCAAAACTCTCTAACCTGGAGGCTGTCTTCTGTCACCTGACATTCTGTCCCCAAAGTCA... | AAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAAAAAAAAAACACTGAAGCTAAATCTACCATAGCTAAACCCTTCGTTCATTTCAAGACATGTTTGTTAGCACCTATTATGTACAATGTACATACATGTACAATGCATTTTTGCCTGCTTCCAGAGAAAGGCTTGAAATAAAGCTTCTGTAACCATTGTAGCTGAACTCTCTTCCCACACACAGCCCTCATTTCCTCTAAACACTCTGACTCAAATGAACTGTCCCTATTTGGCAAAACTCTCTAACCTGGAGGCTGTCTTCTGTCACCTGACATTCTGTCCCCAAAGTCA... |
Task1_train_27316 | Consider this mutation in ETHE1, LOC130064595 (ETHE1 persulfide dioxygenase| ATAC-STARR-seq lymphoblastoid silent region 10721) on Chromosome 19. Is this a benign change or a disease-causing variant? | Pathogenic; Ethylmalonic encephalopathy | AAAAAAAAAAGAAAGAAAGAAAGAAAGAAAAAAAAAAAACACTGAAGCTAAATCTACCATAGCTAAACCCTTCGTTCATTTCAAGACATGTTTGTTAGCACCTATTATGTACAATGTACATACATGTACAATGCATTTTTGCCTGCTTCCAGAGAAAGGCTTGAAATAAAGCTTCTGTAACCATTGTAGCTGAACTCTCTTCCCACACACAGCCCTCATTTCCTCTAAACACTCTGACTCAAATGAACTGTCCCTATTTGGCAAAACTCTCTAACCTGGAGGCTGTCTTCTGTCACCTGACATTCTGTCCCCAAAGTCAG... | AAAAAAAAAAGAAAGAAAGAAAGAAAGAAAAAAAAAAAACACTGAAGCTAAATCTACCATAGCTAAACCCTTCGTTCATTTCAAGACATGTTTGTTAGCACCTATTATGTACAATGTACATACATGTACAATGCATTTTTGCCTGCTTCCAGAGAAAGGCTTGAAATAAAGCTTCTGTAACCATTGTAGCTGAACTCTCTTCCCACACACAGCCCTCATTTCCTCTAAACACTCTGACTCAAATGAACTGTCCCTATTTGGCAAAACTCTCTAACCTGGAGGCTGTCTTCTGTCACCTGACATTCTGTCCCCAAAGTCAG... |
Task1_train_27317 | This gene mutation involves XRCC1 (X-ray repair cross complementing 1) on Chromosome 19. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | GGGGGTCGGGGGGGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCTTGGACTCAAGCAGTCCTCCCACCTCGGCCTCTCAAAGTACGGGGTGAGCCACCACGCCTGGCCTGCCTGGAGCCACTTAATGAGCTTAGTCCAGGCTGAAAACGTCAGTATCTGCCACTTCTTCACCTTTGCTCTCCTTTCCAACCAGTGCCTTTCTTGTTCTGACCTTTGGGGTGGCTCCTTCTTTCCATTTTAAGGTGACTCTCTAGGCCATCAATTTGCTGATGCCACTTTAGGGGCTTGGGAGAATCAAAGCATCTTCCTGCCCATC... | GGGGGTCGGGGGGGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCTTGGACTCAAGCAGTCCTCCCACCTCGGCCTCTCAAAGTACGGGGTGAGCCACCACGCCTGGCCTGCCTGGAGCCACTTAATGAGCTTAGTCCAGGCTGAAAACGTCAGTATCTGCCACTTCTTCACCTTTGCTCTCCTTTCCAACCAGTGCCTTTCTTGTTCTGACCTTTGGGGTGGCTCCTTCTTTCCATTTTAAGGTGACTCTCTAGGCCATCAATTTGCTGATGCCACTTTAGGGGCTTGGGAGAATCAAAGCATCTTCCTGCCCATC... |
Task1_train_27318 | Gene SMG9 (SMG9 nonsense mediated mRNA decay factor) on Chromosome 19 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies | CCAACTCTGGGCCACCAGCTCTGCTGACTTTCACCACCAGGGGGTGTAAGAGACACTCCTCAAGGAAAACAGCTACGTTCTGAACTGTGGCTGCTGCTCCTTAGAATTACCTTAAAATTTTGTTTTGTTTTGTTTTTTAAAAGCGAATCCTATAGGCCAGGTGTTGTGGCCCACGCCTGTAATCCCAGCACTTTAGGAGGCCAAGGTGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACCAAAAATACAAAACCCGGCTGGGTGCAGTGGCTCACACCTTTAATCC... | CCAACTCTGGGCCACCAGCTCTGCTGACTTTCACCACCAGGGGGTGTAAGAGACACTCCTCAAGGAAAACAGCTACGTTCTGAACTGTGGCTGCTGCTCCTTAGAATTACCTTAAAATTTTGTTTTGTTTTGTTTTTTAAAAGCGAATCCTATAGGCCAGGTGTTGTGGCCCACGCCTGTAATCCCAGCACTTTAGGAGGCCAAGGTGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACCAAAAATACAAAACCCGGCTGGGTGCAGTGGCTCACACCTTTAATCC... |
Task1_train_27319 | A change on Chromosome 19 affects gene KCNN4 (potassium calcium-activated channel subfamily N member 4). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Dehydrated hereditary stomatocytosis 2 | CCTTTGGTCCTTGCACTTGAGGTGCTTTGTTCAGGGCTGGGTCAGGAGTGGCAGAGACGATGTCCACCACCTCAGTACTGGGGAAAGTAGCCTGGTTCCTCCTCGTGGGTCCTGGAGAGACAGAGAGACTGATGGAGAGGCAGGCCAGGAAGAGGGAGAGTGAGAGTGGGACACACCGAGGTGCAGACAGAAACCGGTGGGCAGAAGTGGGAGACAGGGGGCAGGTGTTTCCGGGCCCCGAGGCCAGGGGGCAGGAGGGCATTTAGACAGAGACATTGGATGGACAGCCAGACAATGTGCCCAGGACAGGCAGAGAGAGA... | CCTTTGGTCCTTGCACTTGAGGTGCTTTGTTCAGGGCTGGGTCAGGAGTGGCAGAGACGATGTCCACCACCTCAGTACTGGGGAAAGTAGCCTGGTTCCTCCTCGTGGGTCCTGGAGAGACAGAGAGACTGATGGAGAGGCAGGCCAGGAAGAGGGAGAGTGAGAGTGGGACACACCGAGGTGCAGACAGAAACCGGTGGGCAGAAGTGGGAGACAGGGGGCAGGTGTTTCCGGGCCCCGAGGCCAGGGGGCAGGAGGGCATTTAGACAGAGACATTGGATGGACAGCCAGACAATGTGCCCAGGACAGGCAGAGAGAGA... |
Task1_train_27320 | Gene KCNN4 (potassium calcium-activated channel subfamily N member 4), found on Chromosome 19, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | CCAGGATGCCTTCCTGCCCAAGTCCCAGCCCCCTCACCAGCTACTTGGACTGCTGGCTGGGTTCTGGAAGCTGCCTCGGCCCCAGGGCAGTGCTAAGCAGCTCAGTCAGGGCATCCAGCTTCCCCGCCAGCGTGTCAATCTGTTTCTCCAGGGCCCGGTGTGAGCTGCTCAGATTCTGCTGCAGGTCATACAGGATCATGTGCATCTGGGTGGGAGGAGAGGATCAGAGGTGTCGGGGCTGGGGTCGACCCCCACCTACTCCATAGCGTAAGGCAATGGAACCAATATTGACCACATCCTTATGGTCCTCTGAGGATTAC... | CCAGGATGCCTTCCTGCCCAAGTCCCAGCCCCCTCACCAGCTACTTGGACTGCTGGCTGGGTTCTGGAAGCTGCCTCGGCCCCAGGGCAGTGCTAAGCAGCTCAGTCAGGGCATCCAGCTTCCCCGCCAGCGTGTCAATCTGTTTCTCCAGGGCCCGGTGTGAGCTGCTCAGATTCTGCTGCAGGTCATACAGGATCATGTGCATCTGGGTGGGAGGAGAGGATCAGAGGTGTCGGGGCTGGGGTCGACCCCCACCTACTCCATAGCGTAAGGCAATGGAACCAATATTGACCACATCCTTATGGTCCTCTGAGGATTAC... |
Task1_train_27321 | This variant affects the gene KCNN4 (potassium calcium-activated channel subfamily N member 4) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Dehydrated hereditary stomatocytosis 2 | CCTACTCCATAGCGTAAGGCAATGGAACCAATATTGACCACATCCTTATGGTCCTCTGAGGATTACCCTCGACAATAACTGTTACCATGTATTGACCACCTACCACTTCCCAGCTACCTGCCCAGGTGTTTCCCTATATGGTTTAAAATCCTCCCAAAAGCCACAGGGAGTGGGAATCCTGTTCCTGTCTTACAGCTGAGGAAACAGGCATGGAACAGTTAAATGACATGCCCAAAGCAGCTCCTGAAATAAGACCTAGAACATAGCAGGTGCTCATTAGATATTTCTAGCATGGATGATGCCTGACTTCCAAATCCACA... | CCTACTCCATAGCGTAAGGCAATGGAACCAATATTGACCACATCCTTATGGTCCTCTGAGGATTACCCTCGACAATAACTGTTACCATGTATTGACCACCTACCACTTCCCAGCTACCTGCCCAGGTGTTTCCCTATATGGTTTAAAATCCTCCCAAAAGCCACAGGGAGTGGGAATCCTGTTCCTGTCTTACAGCTGAGGAAACAGGCATGGAACAGTTAAATGACATGCCCAAAGCAGCTCCTGAAATAAGACCTAGAACATAGCAGGTGCTCATTAGATATTTCTAGCATGGATGATGCCTGACTTCCAAATCCACA... |
Task1_train_27322 | With a mutation on Chromosome 19 in gene CEACAM16, CEACAM16-AS1 (CEA cell adhesion molecule 16, tectorial membrane component| CEACAM16, CEACAM19 and PVR antisense RNA 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Hearing loss, autosomal recessive 113 | AGATGGAGTTTCACTCTTTTGCCCAGGGTTCAAGCAATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCGACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGCTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGTTGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGACTACAGGCATGAGCCACTGCGTCCGGCCATGAGCCACCACGCCCGGCCAGAGCCTATACTTTTAATAACAGGCATACCAATCAGACCCACGTCCACCAGGCTCTGGCTTAAATCCC... | AGATGGAGTTTCACTCTTTTGCCCAGGGTTCAAGCAATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCGACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGCTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGTTGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGACTACAGGCATGAGCCACTGCGTCCGGCCATGAGCCACCACGCCCGGCCAGAGCCTATACTTTTAATAACAGGCATACCAATCAGACCCACGTCCACCAGGCTCTGGCTTAAATCCC... |
Task1_train_27323 | Gene CEACAM16, CEACAM16-AS1 (CEA cell adhesion molecule 16, tectorial membrane component| CEACAM16, CEACAM19 and PVR antisense RNA 1), found on Chromosome 19, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 4B | ATGAGGGGCCGGGCAAGGTGGCTCACACCACTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGTTAACATAGTAAAACCCCATCTCTACTAAAATACAAAAAATTAGCTAGGTGTGGTGGCACATGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGTGGAGGTCACAGTGTGCCGAGACTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCCATCTCAAAAAAAAAAAACAACCCCAAACCACCTATGA... | ATGAGGGGCCGGGCAAGGTGGCTCACACCACTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGTTAACATAGTAAAACCCCATCTCTACTAAAATACAAAAAATTAGCTAGGTGTGGTGGCACATGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGTGGAGGTCACAGTGTGCCGAGACTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCCATCTCAAAAAAAAAAAACAACCCCAAACCACCTATGA... |
Task1_train_27324 | Gene CEACAM16, CEACAM16-AS1 (CEA cell adhesion molecule 16, tectorial membrane component| CEACAM16, CEACAM19 and PVR antisense RNA 1), found on Chromosome 19, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 4B | AGACCAGCCTGGTTAACATAGTAAAACCCCATCTCTACTAAAATACAAAAAATTAGCTAGGTGTGGTGGCACATGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGTGGAGGTCACAGTGTGCCGAGACTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCCATCTCAAAAAAAAAAAACAACCCCAAACCACCTATGAGGGAGGCCCACACATGAACCGCACTTCATAGGGAGAAAACGAGGCTCAGAAAGGTGAAACCATTGGCCGCTGTCACACGGCCAGAGA... | AGACCAGCCTGGTTAACATAGTAAAACCCCATCTCTACTAAAATACAAAAAATTAGCTAGGTGTGGTGGCACATGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGTGGAGGTCACAGTGTGCCGAGACTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCCATCTCAAAAAAAAAAAACAACCCCAAACCACCTATGAGGGAGGCCCACACATGAACCGCACTTCATAGGGAGAAAACGAGGCTCAGAAAGGTGAAACCATTGGCCGCTGTCACACGGCCAGAGA... |
Task1_train_27325 | The following genetic variant occurs in CEACAM16, CEACAM16-AS1 (CEA cell adhesion molecule 16, tectorial membrane component| CEACAM16, CEACAM19 and PVR antisense RNA 1) on Chromosome 19. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 4B | TCAACAGGCAGTTGCAGACCGAGGTGGGCTACGGACACGTGCAGGTCCATGGTGAGACACCCCCCAACACCCGCCTCTGCCCCAGCTGGGCCTTCCCATCTCCTTCTCAATCCTTCTTTTTTTTAAAAAAAAAAAAAATCCAACAAATCATCAGGGAAACCATCAGGGAATAAGTTTCTAAAATAACCTCAAAATGCTCACCTCCTTCAAGATGGCCTCCAGGATTAGACCTGCCTCCTAAAACCATTCTTTGTCCCTCCGGCTGAGGGTGTGGGGGCCCAGCCACAATCCGGCCATGCCCCTTGTTGGGGGAAGGGAAG... | TCAACAGGCAGTTGCAGACCGAGGTGGGCTACGGACACGTGCAGGTCCATGGTGAGACACCCCCCAACACCCGCCTCTGCCCCAGCTGGGCCTTCCCATCTCCTTCTCAATCCTTCTTTTTTTTAAAAAAAAAAAAAATCCAACAAATCATCAGGGAAACCATCAGGGAATAAGTTTCTAAAATAACCTCAAAATGCTCACCTCCTTCAAGATGGCCTCCAGGATTAGACCTGCCTCCTAAAACCATTCTTTGTCCCTCCGGCTGAGGGTGTGGGGGCCCAGCCACAATCCGGCCATGCCCCTTGTTGGGGGAAGGGAAG... |
Task1_train_27326 | Given this context: Chromosome 19, gene APOE (apolipoprotein E) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE5 | CTATCCCTGGGGGAGGGGGCGGGACAGGGGGAGCCCTATAATTGGACAAGTCTGGGATCCTTGAGTCCTACTCAGCCCCAGCGGAGGTGAAGGACGTCCTTCCCCAGGAGCCGGTGAGAAGCGCAGTCGGGGGCACGGGGATGAGCTCAGGGGCCTCTAGAAAGAGCTGGGACCCTGGGAACCCCTGGCCTCCAGGTAGTCTCAGGAGAGCTACTCGGGGTCGGGCTTGGGGAGAGGAGGAGCGGGGGTGAGGCAAGCAGCAGGGGACTGGACCTGGGAAGGGCTGGGCAGCAGAGACGACCCGACCCGCTAGAAGGTGG... | CTATCCCTGGGGGAGGGGGCGGGACAGGGGGAGCCCTATAATTGGACAAGTCTGGGATCCTTGAGTCCTACTCAGCCCCAGCGGAGGTGAAGGACGTCCTTCCCCAGGAGCCGGTGAGAAGCGCAGTCGGGGGCACGGGGATGAGCTCAGGGGCCTCTAGAAAGAGCTGGGACCCTGGGAACCCCTGGCCTCCAGGTAGTCTCAGGAGAGCTACTCGGGGTCGGGCTTGGGGAGAGGAGGAGCGGGGGTGAGGCAAGCAGCAGGGGACTGGACCTGGGAAGGGCTGGGCAGCAGAGACGACCCGACCCGCTAGAAGGTGG... |
Task1_train_27327 | A mutation found in APOE (apolipoprotein E) on Chromosome 19 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Cardiovascular phenotype | GAAGCGCAGTCGGGGGCACGGGGATGAGCTCAGGGGCCTCTAGAAAGAGCTGGGACCCTGGGAACCCCTGGCCTCCAGGTAGTCTCAGGAGAGCTACTCGGGGTCGGGCTTGGGGAGAGGAGGAGCGGGGGTGAGGCAAGCAGCAGGGGACTGGACCTGGGAAGGGCTGGGCAGCAGAGACGACCCGACCCGCTAGAAGGTGGGGTGGGGAGAGCAGCTGGACTGGGATGTAAGCCATAGCAGGACTCCACGAGTTGTCACTATCATTTATCGAGCACCTACTGGGTGTCCCCAGTGTCCTCAGATCTCCATAACTGGGG... | GAAGCGCAGTCGGGGGCACGGGGATGAGCTCAGGGGCCTCTAGAAAGAGCTGGGACCCTGGGAACCCCTGGCCTCCAGGTAGTCTCAGGAGAGCTACTCGGGGTCGGGCTTGGGGAGAGGAGGAGCGGGGGTGAGGCAAGCAGCAGGGGACTGGACCTGGGAAGGGCTGGGCAGCAGAGACGACCCGACCCGCTAGAAGGTGGGGTGGGGAGAGCAGCTGGACTGGGATGTAAGCCATAGCAGGACTCCACGAGTTGTCACTATCATTTATCGAGCACCTACTGGGTGTCCCCAGTGTCCTCAGATCTCCATAACTGGGG... |
Task1_train_27328 | This variant affects the gene APOE (apolipoprotein E) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; APOE2 VARIANT | CTCCCCCTCTCATCCTCACCTCAACCTCCTGGCCCCATTCAGGCAGACCCTGGGCCCCCTCTTCTGAGGCTTCTGTGCTGCTTCCTGGCTCTGAACAGCGATTTGACGCTCTCTGGGCCTCGGTTTCCCCCATCCTTGAGATAGGAGTTAGAAGTTGTTTTGTTGTTGTTGTTTGTTGTTGTTGTTTTGTTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTCCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA... | CTCCCCCTCTCATCCTCACCTCAACCTCCTGGCCCCATTCAGGCAGACCCTGGGCCCCCTCTTCTGAGGCTTCTGTGCTGCTTCCTGGCTCTGAACAGCGATTTGACGCTCTCTGGGCCTCGGTTTCCCCCATCCTTGAGATAGGAGTTAGAAGTTGTTTTGTTGTTGTTGTTTGTTGTTGTTGTTTTGTTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTCCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA... |
Task1_train_27329 | A variant affecting Chromosome 19, within the gene APOE (apolipoprotein E), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Lipoprotein glomerulopathy | CCCATTCAGGCAGACCCTGGGCCCCCTCTTCTGAGGCTTCTGTGCTGCTTCCTGGCTCTGAACAGCGATTTGACGCTCTCTGGGCCTCGGTTTCCCCCATCCTTGAGATAGGAGTTAGAAGTTGTTTTGTTGTTGTTGTTTGTTGTTGTTGTTTTGTTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTCCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACACCCGACTAACTTTTTTG... | CCCATTCAGGCAGACCCTGGGCCCCCTCTTCTGAGGCTTCTGTGCTGCTTCCTGGCTCTGAACAGCGATTTGACGCTCTCTGGGCCTCGGTTTCCCCCATCCTTGAGATAGGAGTTAGAAGTTGTTTTGTTGTTGTTGTTTGTTGTTGTTGTTTTGTTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTCCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACACCCGACTAACTTTTTTG... |
Task1_train_27330 | This mutation occurs in APOE (apolipoprotein E) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hyperlipoproteinemia, type III, due to APOE2 | CATTCAGGCAGACCCTGGGCCCCCTCTTCTGAGGCTTCTGTGCTGCTTCCTGGCTCTGAACAGCGATTTGACGCTCTCTGGGCCTCGGTTTCCCCCATCCTTGAGATAGGAGTTAGAAGTTGTTTTGTTGTTGTTGTTTGTTGTTGTTGTTTTGTTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTCCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACACCCGACTAACTTTTTTGTA... | CATTCAGGCAGACCCTGGGCCCCCTCTTCTGAGGCTTCTGTGCTGCTTCCTGGCTCTGAACAGCGATTTGACGCTCTCTGGGCCTCGGTTTCCCCCATCCTTGAGATAGGAGTTAGAAGTTGTTTTGTTGTTGTTGTTTGTTGTTGTTGTTTTGTTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTCCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACACCCGACTAACTTTTTTGTA... |
Task1_train_27331 | Consider this mutation in APOE (apolipoprotein E) on Chromosome 19. Is this a benign change or a disease-causing variant? | Pathogenic; Familial type 3 hyperlipoproteinemia | CATTCAGGCAGACCCTGGGCCCCCTCTTCTGAGGCTTCTGTGCTGCTTCCTGGCTCTGAACAGCGATTTGACGCTCTCTGGGCCTCGGTTTCCCCCATCCTTGAGATAGGAGTTAGAAGTTGTTTTGTTGTTGTTGTTTGTTGTTGTTGTTTTGTTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTCCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACACCCGACTAACTTTTTTGTA... | CATTCAGGCAGACCCTGGGCCCCCTCTTCTGAGGCTTCTGTGCTGCTTCCTGGCTCTGAACAGCGATTTGACGCTCTCTGGGCCTCGGTTTCCCCCATCCTTGAGATAGGAGTTAGAAGTTGTTTTGTTGTTGTTGTTTGTTGTTGTTGTTTTGTTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTCCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACACCCGACTAACTTTTTTGTA... |
Task1_train_27332 | The gene APOE (apolipoprotein E) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; HYPERLIPOPROTEINEMIA, TYPE IV/V, DUE TO APOE2-DUNEDIN | CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACACCCGACTAACTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCTGCCCGTTTCGATCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTTAGAGGTTTCTAATGCATTGCAGGCAGATAGTGAATACCAGACACGGGGCAGCTGTGATCTTTATTCTCCATCACCCCCACACAGCCCTGCCTGGGGCACACAAGGACACTCAAT... | CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACACCCGACTAACTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCTGCCCGTTTCGATCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTTAGAGGTTTCTAATGCATTGCAGGCAGATAGTGAATACCAGACACGGGGCAGCTGTGATCTTTATTCTCCATCACCCCCACACAGCCCTGCCTGGGGCACACAAGGACACTCAAT... |
Task1_train_27333 | This alteration occurs within gene APOE (apolipoprotein E) located on Chromosome 19. Is it associated with a disease or is it a benign variant? | Pathogenic; APOE2-DUNEDIN | CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACACCCGACTAACTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCTGCCCGTTTCGATCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTTAGAGGTTTCTAATGCATTGCAGGCAGATAGTGAATACCAGACACGGGGCAGCTGTGATCTTTATTCTCCATCACCCCCACACAGCCCTGCCTGGGGCACACAAGGACACTCAAT... | CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACACCCGACTAACTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCTGCCCGTTTCGATCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTTAGAGGTTTCTAATGCATTGCAGGCAGATAGTGAATACCAGACACGGGGCAGCTGTGATCTTTATTCTCCATCACCCCCACACAGCCCTGCCTGGGGCACACAAGGACACTCAAT... |
Task1_train_27334 | This variant affects gene APOE (apolipoprotein E) located on Chromosome 19. Evaluate its biological effect and specify any disease association. | Pathogenic; APOE4 VARIANT | TCTGCCCGTTTCGATCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTTAGAGGTTTCTAATGCATTGCAGGCAGATAGTGAATACCAGACACGGGGCAGCTGTGATCTTTATTCTCCATCACCCCCACACAGCCCTGCCTGGGGCACACAAGGACACTCAATACATGCTTTTCCGCTGGGCGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAACACCAGCCTGGGCAACATAGTGAGACCCTGTCTCTACTAAAAATAC... | TCTGCCCGTTTCGATCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTTAGAGGTTTCTAATGCATTGCAGGCAGATAGTGAATACCAGACACGGGGCAGCTGTGATCTTTATTCTCCATCACCCCCACACAGCCCTGCCTGGGGCACACAAGGACACTCAATACATGCTTTTCCGCTGGGCGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAACACCAGCCTGGGCAACATAGTGAGACCCTGTCTCTACTAAAAATAC... |
Task1_train_27335 | This mutation occurs in APOE (apolipoprotein E) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; APOE4(+) | TTAGAGGTTTCTAATGCATTGCAGGCAGATAGTGAATACCAGACACGGGGCAGCTGTGATCTTTATTCTCCATCACCCCCACACAGCCCTGCCTGGGGCACACAAGGACACTCAATACATGCTTTTCCGCTGGGCGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAACACCAGCCTGGGCAACATAGTGAGACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGCCACACACCTGTGCTCTCAGCTACTCAGGAGGCTGAGGCAGGAG... | TTAGAGGTTTCTAATGCATTGCAGGCAGATAGTGAATACCAGACACGGGGCAGCTGTGATCTTTATTCTCCATCACCCCCACACAGCCCTGCCTGGGGCACACAAGGACACTCAATACATGCTTTTCCGCTGGGCGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAACACCAGCCTGGGCAACATAGTGAGACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGCCACACACCTGTGCTCTCAGCTACTCAGGAGGCTGAGGCAGGAG... |
Task1_train_27336 | Given this context: Chromosome 19, gene APOC2, APOC4-APOC2 (apolipoprotein C2| APOC4-APOC2 readthrough (NMD candidate)) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; APOLIPOPROTEIN C-II (PARIS) | AGGATCCCTTGAGCCCAGGAGTTTGAGGATGCAGTGAGCTGTGATCTTGCCACCGTGTTCCAGCCTGGGTGACAGAGAAACCCCATTTCTAAAAAAGAGAAAGAAAAAGGGATAGGTACAATGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGACACCAGCCTTACCAGCATGGTGAAACCGCATCTATACTAAAAATACAAAAATTGGCCGGGTGTGGTAGCATATGCCTGTAATCCCAGCTATTCCAGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGA... | AGGATCCCTTGAGCCCAGGAGTTTGAGGATGCAGTGAGCTGTGATCTTGCCACCGTGTTCCAGCCTGGGTGACAGAGAAACCCCATTTCTAAAAAAGAGAAAGAAAAAGGGATAGGTACAATGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGACACCAGCCTTACCAGCATGGTGAAACCGCATCTATACTAAAAATACAAAAATTGGCCGGGTGTGGTAGCATATGCCTGTAATCCCAGCTATTCCAGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGA... |
Task1_train_27337 | This variant affects the gene APOC2, APOC4-APOC2 (apolipoprotein C2| APOC4-APOC2 readthrough (NMD candidate)) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Familial apolipoprotein C-II deficiency | AGGATCCCTTGAGCCCAGGAGTTTGAGGATGCAGTGAGCTGTGATCTTGCCACCGTGTTCCAGCCTGGGTGACAGAGAAACCCCATTTCTAAAAAAGAGAAAGAAAAAGGGATAGGTACAATGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGACACCAGCCTTACCAGCATGGTGAAACCGCATCTATACTAAAAATACAAAAATTGGCCGGGTGTGGTAGCATATGCCTGTAATCCCAGCTATTCCAGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGA... | AGGATCCCTTGAGCCCAGGAGTTTGAGGATGCAGTGAGCTGTGATCTTGCCACCGTGTTCCAGCCTGGGTGACAGAGAAACCCCATTTCTAAAAAAGAGAAAGAAAAAGGGATAGGTACAATGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGACACCAGCCTTACCAGCATGGTGAAACCGCATCTATACTAAAAATACAAAAATTGGCCGGGTGTGGTAGCATATGCCTGTAATCCCAGCTATTCCAGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGA... |
Task1_train_27338 | This sequence variant lies in APOC2, APOC4-APOC2 (apolipoprotein C2| APOC4-APOC2 readthrough (NMD candidate)) on Chromosome 19. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Familial apolipoprotein C-II deficiency | TTGAACCCAGGAAGCGGAGGTTGCAGTGAGCCCAGATCGTGCCACTGTACTCTAGCCTGGGTGACAGAGCAAGACTCAGTCTTGGCGGAAAAAAAGAATGAAAAAATTTAAAAAACTAAAAAAGAACTGTAGGCTGGGCGTGGTGGCTTACACTTGTAATCCAAACGCTTTGGGAGGCCAAGGCAAACGGATCACTTGATGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGACAGGCATGGTGGTGCATGCTTGTATTTCCAGTTACTCAGGAGGCTGAGGCA... | TTGAACCCAGGAAGCGGAGGTTGCAGTGAGCCCAGATCGTGCCACTGTACTCTAGCCTGGGTGACAGAGCAAGACTCAGTCTTGGCGGAAAAAAAGAATGAAAAAATTTAAAAAACTAAAAAAGAACTGTAGGCTGGGCGTGGTGGCTTACACTTGTAATCCAAACGCTTTGGGAGGCCAAGGCAAACGGATCACTTGATGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGACAGGCATGGTGGTGCATGCTTGTATTTCCAGTTACTCAGGAGGCTGAGGCA... |
Task1_train_27339 | This variant affects the gene APOC2, APOC4-APOC2 (apolipoprotein C2| APOC4-APOC2 readthrough (NMD candidate)) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; APOLIPOPROTEIN C-II (WAKAYAMA) | TTGAACCCAGGAAGCGGAGGTTGCAGTGAGCCCAGATCGTGCCACTGTACTCTAGCCTGGGTGACAGAGCAAGACTCAGTCTTGGCGGAAAAAAAGAATGAAAAAATTTAAAAAACTAAAAAAGAACTGTAGGCTGGGCGTGGTGGCTTACACTTGTAATCCAAACGCTTTGGGAGGCCAAGGCAAACGGATCACTTGATGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGACAGGCATGGTGGTGCATGCTTGTATTTCCAGTTACTCAGGAGGCTGAGGCA... | TTGAACCCAGGAAGCGGAGGTTGCAGTGAGCCCAGATCGTGCCACTGTACTCTAGCCTGGGTGACAGAGCAAGACTCAGTCTTGGCGGAAAAAAAGAATGAAAAAATTTAAAAAACTAAAAAAGAACTGTAGGCTGGGCGTGGTGGCTTACACTTGTAATCCAAACGCTTTGGGAGGCCAAGGCAAACGGATCACTTGATGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGACAGGCATGGTGGTGCATGCTTGTATTTCCAGTTACTCAGGAGGCTGAGGCA... |
Task1_train_27340 | Here is a genetic alteration in EXOC3L2 (exocyst complex component 3 like 2) on Chromosome 19. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Meckel-like syndrome | AGGGTGCATTCCTAGAGGATCTGCTGGGTCAAGCGCCCAGTGTTTGTGATTTGGGCAGAAAGTGCTTGGTCTGGACTGTTCTCCATTCGGCAATGGAAGAACACAGACTGCTACAATGATAGGAAATGGGAATGGCCAGGCAAGGTGGCTCATGCTTGTAATGCCAGCATTTTGGGAAGCTGAGGCAGGAGCATCACTTGAGCCTGGGAGTCCGAGACCAGCCTGGGCAACATAGAGAGACCTCCATCTCTTTTATTTTCTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGCAGTGCAGTGACGGGATCTTG... | AGGGTGCATTCCTAGAGGATCTGCTGGGTCAAGCGCCCAGTGTTTGTGATTTGGGCAGAAAGTGCTTGGTCTGGACTGTTCTCCATTCGGCAATGGAAGAACACAGACTGCTACAATGATAGGAAATGGGAATGGCCAGGCAAGGTGGCTCATGCTTGTAATGCCAGCATTTTGGGAAGCTGAGGCAGGAGCATCACTTGAGCCTGGGAGTCCGAGACCAGCCTGGGCAACATAGAGAGACCTCCATCTCTTTTATTTTCTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGCAGTGCAGTGACGGGATCTTG... |
Task1_train_27341 | Given a variant located on Chromosome 19 and affecting ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Trichothiodystrophy | CAAGGCAGGAGGATCACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTC... | CAAGGCAGGAGGATCACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTC... |
Task1_train_27342 | This variant affects the gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Trichothiodystrophy 1, photosensitive | CAAGGCAGGAGGATCACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTC... | CAAGGCAGGAGGATCACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTC... |
Task1_train_27343 | This mutation is located in gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; ERCC2-related disorder | CAAGGCAGGAGGATCACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTC... | CAAGGCAGGAGGATCACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTC... |
Task1_train_27344 | This mutation occurs in ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Xeroderma pigmentosum, group D | CAAGGCAGGAGGATCACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTC... | CAAGGCAGGAGGATCACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTC... |
Task1_train_27345 | Chromosome 19 houses a mutation in gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Trichothiodystrophy 1, photosensitive | CAAGGCAGGAGGATCACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTC... | CAAGGCAGGAGGATCACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTC... |
Task1_train_27346 | This alteration in ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Cerebrooculofacioskeletal syndrome 2 | CAAGGCAGGAGGATCACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTC... | CAAGGCAGGAGGATCACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTC... |
Task1_train_27347 | A mutation on Chromosome 19 affecting ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Cerebrooculofacioskeletal syndrome 2 | CAAGGCAGGAGGATCACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTC... | CAAGGCAGGAGGATCACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTC... |
Task1_train_27348 | Consider a variant on Chromosome 19 in gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit). Determine its clinical classification and disease relevance. | Pathogenic; Hypotrichosis simplex | CAAGGCAGGAGGATCACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTC... | CAAGGCAGGAGGATCACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTC... |
Task1_train_27349 | This variant affects gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) located on Chromosome 19. Evaluate its biological effect and specify any disease association. | Pathogenic; Xeroderma pigmentosum, group D | GGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCA... | GGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCA... |
Task1_train_27350 | This alteration in ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Cerebrooculofacioskeletal syndrome 2 | GGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCA... | GGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCA... |
Task1_train_27351 | This mutation occurs in ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Trichothiodystrophy 1, photosensitive | GGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCA... | GGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCA... |
Task1_train_27352 | A change on Chromosome 19 affects gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Xeroderma pigmentosum, group D | GGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCA... | GGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCA... |
Task1_train_27353 | The gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Cerebrooculofacioskeletal syndrome 2 | GGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCA... | GGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCA... |
Task1_train_27354 | The gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Inflammatory bowel disease 1 | GGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCA... | GGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCA... |
Task1_train_27355 | A variant was discovered on Chromosome 19, affecting ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Inborn genetic diseases | CTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACA... | CTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACA... |
Task1_train_27356 | Assess the clinical impact of this variant on gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit), found on Chromosome 19. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Cerebrooculofacioskeletal syndrome 2 | CTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACA... | CTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACA... |
Task1_train_27357 | Here is a variant affecting ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not specified | CTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACA... | CTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACA... |
Task1_train_27358 | This is a variant in ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit), located on Chromosome 19. Is this mutation a likely cause of disease or not? | Pathogenic; not specified | CCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCT... | CCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCT... |
Task1_train_27359 | This sequence change occurs on Chromosome 19, altering ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Trichothiodystrophy 1, photosensitive | CCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTC... | CCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTC... |
Task1_train_27360 | This variant affects the gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Cerebrooculofacioskeletal syndrome 2 | CCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTC... | CCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTC... |
Task1_train_27361 | With a mutation on Chromosome 19 in gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Cerebrooculofacioskeletal syndrome 2 | TGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGA... | TGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGA... |
Task1_train_27362 | This is a variant in ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit), located on Chromosome 19. Is this mutation a likely cause of disease or not? | Pathogenic; Xeroderma pigmentosum, group D | TGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGA... | TGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGA... |
Task1_train_27363 | The gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Inborn genetic diseases | TGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGA... | TGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGA... |
Task1_train_27364 | A sequence alteration has been identified in ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) on Chromosome 19. Is it disease-inducing or harmless? | Pathogenic; Xeroderma pigmentosum, group D | TGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGA... | TGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGA... |
Task1_train_27365 | This sequence variant lies in ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) on Chromosome 19. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Trichothiodystrophy 1, photosensitive | TGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGA... | TGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGA... |
Task1_train_27366 | A variant found in Chromosome 19 affects ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Cerebrooculofacioskeletal syndrome 2 | TGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGA... | TGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGA... |
Task1_train_27367 | The gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Xeroderma pigmentosum | TGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGA... | TGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGA... |
Task1_train_27368 | Gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) on Chromosome 19 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Xeroderma pigmentosum, group D | TGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTG... | TGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTG... |
Task1_train_27369 | Here is a variant affecting ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Xeroderma pigmentosum, group D | CTCGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGCAAGGCAGAGACTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTAGGCAACAGAGCAAGACTCTGTCTCAAAAAAAGGCCATGTGTCACTTCCAGGGGAGCACCCTTAGGAACCAGTGCACAATACACTGTGACCACTGTGATCCCACCTGTCACATTATGCTGCCTCTGACACACCCAGCGGTGGAGGTTCCCAGGTGAGGAGACACAGGGCAGGCCCCTACCAGCTCACAGTGGACGTGTACCACGGGCAAGAAGGAAACTCTGGGCTGAGCAACTA... | CTCGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGCAAGGCAGAGACTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTAGGCAACAGAGCAAGACTCTGTCTCAAAAAAAGGCCATGTGTCACTTCCAGGGGAGCACCCTTAGGAACCAGTGCACAATACACTGTGACCACTGTGATCCCACCTGTCACATTATGCTGCCTCTGACACACCCAGCGGTGGAGGTTCCCAGGTGAGGAGACACAGGGCAGGCCCCTACCAGCTCACAGTGGACGTGTACCACGGGCAAGAAGGAAACTCTGGGCTGAGCAACTA... |
Task1_train_27370 | With a mutation on Chromosome 19 in gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Cerebrooculofacioskeletal syndrome 2 | GTACCCTCTAAGGCACCATCACAGCCTAAGGCTTTTTCTGAAGAACAAATCCTTTTCCTACGCCAAAAGGAAAGCTCCAAGGCAGCCAGCCCTTCCTTCTCCATTTCCCCTTTCATCAGTCACCGAGGCCTGTGCTCTTTGTCATCCACTAGATGTATTATTTCTCACATATTCTTACAAATAATGTGATATAATATATAGTCTGTGGGCCCAGTGTGGGAGTTTGAGACCAGCCCGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAAACTAGCAGGGCGTGGTGGTGGGTGCCTGTAATCCCAGCTACT... | GTACCCTCTAAGGCACCATCACAGCCTAAGGCTTTTTCTGAAGAACAAATCCTTTTCCTACGCCAAAAGGAAAGCTCCAAGGCAGCCAGCCCTTCCTTCTCCATTTCCCCTTTCATCAGTCACCGAGGCCTGTGCTCTTTGTCATCCACTAGATGTATTATTTCTCACATATTCTTACAAATAATGTGATATAATATATAGTCTGTGGGCCCAGTGTGGGAGTTTGAGACCAGCCCGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAAACTAGCAGGGCGTGGTGGTGGGTGCCTGTAATCCCAGCTACT... |
Task1_train_27371 | This mutation is located in gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Xeroderma pigmentosum, group D | GTACCCTCTAAGGCACCATCACAGCCTAAGGCTTTTTCTGAAGAACAAATCCTTTTCCTACGCCAAAAGGAAAGCTCCAAGGCAGCCAGCCCTTCCTTCTCCATTTCCCCTTTCATCAGTCACCGAGGCCTGTGCTCTTTGTCATCCACTAGATGTATTATTTCTCACATATTCTTACAAATAATGTGATATAATATATAGTCTGTGGGCCCAGTGTGGGAGTTTGAGACCAGCCCGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAAACTAGCAGGGCGTGGTGGTGGGTGCCTGTAATCCCAGCTACT... | GTACCCTCTAAGGCACCATCACAGCCTAAGGCTTTTTCTGAAGAACAAATCCTTTTCCTACGCCAAAAGGAAAGCTCCAAGGCAGCCAGCCCTTCCTTCTCCATTTCCCCTTTCATCAGTCACCGAGGCCTGTGCTCTTTGTCATCCACTAGATGTATTATTTCTCACATATTCTTACAAATAATGTGATATAATATATAGTCTGTGGGCCCAGTGTGGGAGTTTGAGACCAGCCCGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAAACTAGCAGGGCGTGGTGGTGGGTGCCTGTAATCCCAGCTACT... |
Task1_train_27372 | The gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Xeroderma pigmentosum, group D | CGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACAAGGTCGGGAGTTAGAGACCAGCCTAACCAACATGGTGAAACACCGTCTCTACTAAAAACACACAAATTAGCCGGGTGTAGTGGGGCACCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGCTTGTAGTAAGCCAAGATCACTCCCCTGCACTCCAGGCTGGGTGACAGAGTGAGACTCCGTCTCAAAAACAAAACAAAACAAAAATATATATATATATACACACACACACACACA... | CGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACAAGGTCGGGAGTTAGAGACCAGCCTAACCAACATGGTGAAACACCGTCTCTACTAAAAACACACAAATTAGCCGGGTGTAGTGGGGCACCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGCTTGTAGTAAGCCAAGATCACTCCCCTGCACTCCAGGCTGGGTGACAGAGTGAGACTCCGTCTCAAAAACAAAACAAAACAAAAATATATATATATATACACACACACACACACA... |
Task1_train_27373 | A variant found in Chromosome 19 affects ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Trichothiodystrophy 1, photosensitive | CGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACAAGGTCGGGAGTTAGAGACCAGCCTAACCAACATGGTGAAACACCGTCTCTACTAAAAACACACAAATTAGCCGGGTGTAGTGGGGCACCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGCTTGTAGTAAGCCAAGATCACTCCCCTGCACTCCAGGCTGGGTGACAGAGTGAGACTCCGTCTCAAAAACAAAACAAAACAAAAATATATATATATATACACACACACACACACA... | CGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACAAGGTCGGGAGTTAGAGACCAGCCTAACCAACATGGTGAAACACCGTCTCTACTAAAAACACACAAATTAGCCGGGTGTAGTGGGGCACCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGCTTGTAGTAAGCCAAGATCACTCCCCTGCACTCCAGGCTGGGTGACAGAGTGAGACTCCGTCTCAAAAACAAAACAAAACAAAAATATATATATATATACACACACACACACACA... |
Task1_train_27374 | Gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit), found on Chromosome 19, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Xeroderma pigmentosum, group D | CGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACAAGGTCGGGAGTTAGAGACCAGCCTAACCAACATGGTGAAACACCGTCTCTACTAAAAACACACAAATTAGCCGGGTGTAGTGGGGCACCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGCTTGTAGTAAGCCAAGATCACTCCCCTGCACTCCAGGCTGGGTGACAGAGTGAGACTCCGTCTCAAAAACAAAACAAAACAAAAATATATATATATATACACACACACACACACA... | CGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACAAGGTCGGGAGTTAGAGACCAGCCTAACCAACATGGTGAAACACCGTCTCTACTAAAAACACACAAATTAGCCGGGTGTAGTGGGGCACCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGCTTGTAGTAAGCCAAGATCACTCCCCTGCACTCCAGGCTGGGTGACAGAGTGAGACTCCGTCTCAAAAACAAAACAAAACAAAAATATATATATATATACACACACACACACACA... |
Task1_train_27375 | Mutation context: Chromosome 19, Gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Cerebrooculofacioskeletal syndrome 2 | CGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACAAGGTCGGGAGTTAGAGACCAGCCTAACCAACATGGTGAAACACCGTCTCTACTAAAAACACACAAATTAGCCGGGTGTAGTGGGGCACCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGCTTGTAGTAAGCCAAGATCACTCCCCTGCACTCCAGGCTGGGTGACAGAGTGAGACTCCGTCTCAAAAACAAAACAAAACAAAAATATATATATATATACACACACACACACACA... | CGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACAAGGTCGGGAGTTAGAGACCAGCCTAACCAACATGGTGAAACACCGTCTCTACTAAAAACACACAAATTAGCCGGGTGTAGTGGGGCACCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGCTTGTAGTAAGCCAAGATCACTCCCCTGCACTCCAGGCTGGGTGACAGAGTGAGACTCCGTCTCAAAAACAAAACAAAACAAAAATATATATATATATACACACACACACACACA... |
Task1_train_27376 | A variant on Chromosome 19 in gene ERCC1 (ERCC excision repair 1, endonuclease non-catalytic subunit) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Cerebrooculofacioskeletal syndrome 4 | CTCCACCTCCCGGGTTCAAACGATTGTCCTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGGCATGTGCCACCATACCTGGCTACTTTTTTGTATTTTTAGTAAAGATGGGGTGTCTCCATGTTGGCCAGGCTGGTCCCAAACTCCTGACCTCAGGTGATCCAGCCGCCTCAGCCTCTCAAAGTGCTGGGATTACAGGCCCAAGCCACCGCACCTGGCTTAGAAGCTTTTTAATTTGATGTGATCCCATTTGTCCATTTTGCTTTAGTTTCCTATGCTTATAGGGCATTACTCAAGAAATCTCTGCCCAGTTCAATGTCC... | CTCCACCTCCCGGGTTCAAACGATTGTCCTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGGCATGTGCCACCATACCTGGCTACTTTTTTGTATTTTTAGTAAAGATGGGGTGTCTCCATGTTGGCCAGGCTGGTCCCAAACTCCTGACCTCAGGTGATCCAGCCGCCTCAGCCTCTCAAAGTGCTGGGATTACAGGCCCAAGCCACCGCACCTGGCTTAGAAGCTTTTTAATTTGATGTGATCCCATTTGTCCATTTTGCTTTAGTTTCCTATGCTTATAGGGCATTACTCAAGAAATCTCTGCCCAGTTCAATGTCC... |
Task1_train_27377 | Here’s a variant in OPA3 (outer mitochondrial membrane lipid metabolism regulator OPA3) located on Chromosome 19. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; 3-Methylglutaconic aciduria type 3 | TCAAGCAGTTAAGGCCAACTGCTGGCCTAATTGGTAGGATGGGGGTGGGACCGGGGGCTATGGAGGCAGGAGGGTACTGCTACATGAAGACAGGCTGTCGGGTCAGTCCAGAGCTCCGAGGAAAGAAAGCAAGAGCACACAGATTAGGAGACACGGATGGAAGATGAAGGATGTGACAATTGAATCCATGGGCTTGGATTCGACTGGGTCCCTGAGAAATGCTACTGAGCAAGGTGGGGAAGGCAAGAAAGGACATGCCACACAGTACAAGCTCCAGGGACTCTGAGGACAGGAAAATAGGGGGCTGAGGCTGAAGGACA... | TCAAGCAGTTAAGGCCAACTGCTGGCCTAATTGGTAGGATGGGGGTGGGACCGGGGGCTATGGAGGCAGGAGGGTACTGCTACATGAAGACAGGCTGTCGGGTCAGTCCAGAGCTCCGAGGAAAGAAAGCAAGAGCACACAGATTAGGAGACACGGATGGAAGATGAAGGATGTGACAATTGAATCCATGGGCTTGGATTCGACTGGGTCCCTGAGAAATGCTACTGAGCAAGGTGGGGAAGGCAAGAAAGGACATGCCACACAGTACAAGCTCCAGGGACTCTGAGGACAGGAAAATAGGGGGCTGAGGCTGAAGGACA... |
Task1_train_27378 | Given this context: Chromosome 19, gene OPA3 (outer mitochondrial membrane lipid metabolism regulator OPA3) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Optic atrophy 3 | TCAAGCAGTTAAGGCCAACTGCTGGCCTAATTGGTAGGATGGGGGTGGGACCGGGGGCTATGGAGGCAGGAGGGTACTGCTACATGAAGACAGGCTGTCGGGTCAGTCCAGAGCTCCGAGGAAAGAAAGCAAGAGCACACAGATTAGGAGACACGGATGGAAGATGAAGGATGTGACAATTGAATCCATGGGCTTGGATTCGACTGGGTCCCTGAGAAATGCTACTGAGCAAGGTGGGGAAGGCAAGAAAGGACATGCCACACAGTACAAGCTCCAGGGACTCTGAGGACAGGAAAATAGGGGGCTGAGGCTGAAGGACA... | TCAAGCAGTTAAGGCCAACTGCTGGCCTAATTGGTAGGATGGGGGTGGGACCGGGGGCTATGGAGGCAGGAGGGTACTGCTACATGAAGACAGGCTGTCGGGTCAGTCCAGAGCTCCGAGGAAAGAAAGCAAGAGCACACAGATTAGGAGACACGGATGGAAGATGAAGGATGTGACAATTGAATCCATGGGCTTGGATTCGACTGGGTCCCTGAGAAATGCTACTGAGCAAGGTGGGGAAGGCAAGAAAGGACATGCCACACAGTACAAGCTCCAGGGACTCTGAGGACAGGAAAATAGGGGGCTGAGGCTGAAGGACA... |
Task1_train_27379 | Here’s a variant in OPA3 (outer mitochondrial membrane lipid metabolism regulator OPA3) located on Chromosome 19. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Optic atrophy 3 | TCAAGCAGTTAAGGCCAACTGCTGGCCTAATTGGTAGGATGGGGGTGGGACCGGGGGCTATGGAGGCAGGAGGGTACTGCTACATGAAGACAGGCTGTCGGGTCAGTCCAGAGCTCCGAGGAAAGAAAGCAAGAGCACACAGATTAGGAGACACGGATGGAAGATGAAGGATGTGACAATTGAATCCATGGGCTTGGATTCGACTGGGTCCCTGAGAAATGCTACTGAGCAAGGTGGGGAAGGCAAGAAAGGACATGCCACACAGTACAAGCTCCAGGGACTCTGAGGACAGGAAAATAGGGGGCTGAGGCTGAAGGACA... | TCAAGCAGTTAAGGCCAACTGCTGGCCTAATTGGTAGGATGGGGGTGGGACCGGGGGCTATGGAGGCAGGAGGGTACTGCTACATGAAGACAGGCTGTCGGGTCAGTCCAGAGCTCCGAGGAAAGAAAGCAAGAGCACACAGATTAGGAGACACGGATGGAAGATGAAGGATGTGACAATTGAATCCATGGGCTTGGATTCGACTGGGTCCCTGAGAAATGCTACTGAGCAAGGTGGGGAAGGCAAGAAAGGACATGCCACACAGTACAAGCTCCAGGGACTCTGAGGACAGGAAAATAGGGGGCTGAGGCTGAAGGACA... |
Task1_train_27380 | This mutation is located in gene OPA3 (outer mitochondrial membrane lipid metabolism regulator OPA3) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Optic atrophy 3 | GGATGGGGGTGGGACCGGGGGCTATGGAGGCAGGAGGGTACTGCTACATGAAGACAGGCTGTCGGGTCAGTCCAGAGCTCCGAGGAAAGAAAGCAAGAGCACACAGATTAGGAGACACGGATGGAAGATGAAGGATGTGACAATTGAATCCATGGGCTTGGATTCGACTGGGTCCCTGAGAAATGCTACTGAGCAAGGTGGGGAAGGCAAGAAAGGACATGCCACACAGTACAAGCTCCAGGGACTCTGAGGACAGGAAAATAGGGGGCTGAGGCTGAAGGACAGGCTGGATTAGCCCTAGTTAGGATCAAATTTCCCAC... | GGATGGGGGTGGGACCGGGGGCTATGGAGGCAGGAGGGTACTGCTACATGAAGACAGGCTGTCGGGTCAGTCCAGAGCTCCGAGGAAAGAAAGCAAGAGCACACAGATTAGGAGACACGGATGGAAGATGAAGGATGTGACAATTGAATCCATGGGCTTGGATTCGACTGGGTCCCTGAGAAATGCTACTGAGCAAGGTGGGGAAGGCAAGAAAGGACATGCCACACAGTACAAGCTCCAGGGACTCTGAGGACAGGAAAATAGGGGGCTGAGGCTGAAGGACAGGCTGGATTAGCCCTAGTTAGGATCAAATTTCCCAC... |
Task1_train_27381 | Gene LOC130064709, OPA3 (ATAC-STARR-seq lymphoblastoid active region 14802| outer mitochondrial membrane lipid metabolism regulator OPA3) on Chromosome 19 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; 3-Methylglutaconic aciduria type 3 | AGATCAGATGGGCCAGTTTATTGATCTGGGTAAGGCCAGCTGATCCATCAAGTGCAGGGTCTGTGAAATATCTCAAGCACTGATCTTAGGAGCAGTTTAGGGAGGGTCAGAATCTTGTACCCTCCAGCTGCATGACTCCTAAACCATAATTTCTAATCTTGTGGCTAATGTTAGTCCTACAAAGGCAATCCAGTCGCCAGACAAGAAGGAGGTCTGCTTTGGGAAAGGGCTGTTACCATGTTTGTTTAAACTATAAACTACAAACTAAATCTCTCCCAAAGTTAGTTCAGCCTTTGCCCAGGAATGAACAAGGATAGCTT... | AGATCAGATGGGCCAGTTTATTGATCTGGGTAAGGCCAGCTGATCCATCAAGTGCAGGGTCTGTGAAATATCTCAAGCACTGATCTTAGGAGCAGTTTAGGGAGGGTCAGAATCTTGTACCCTCCAGCTGCATGACTCCTAAACCATAATTTCTAATCTTGTGGCTAATGTTAGTCCTACAAAGGCAATCCAGTCGCCAGACAAGAAGGAGGTCTGCTTTGGGAAAGGGCTGTTACCATGTTTGTTTAAACTATAAACTACAAACTAAATCTCTCCCAAAGTTAGTTCAGCCTTTGCCCAGGAATGAACAAGGATAGCTT... |
Task1_train_27382 | The gene LOC107075317, SIX5 (origin of replication in DMPK trinucleotide repeat region| SIX homeobox 5) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Branchiootorenal syndrome 2 | AAAATGGAGGCATAACATGTCCTAGAAAAATAAAGATTTAGGATACAAAGGAGACACAGCGGCAGGGCTGCCCCCAGGGATGAGGGAATCTTTGGTCTGGGCCGGATAATGAGGACAAGGGCTTGAGTCGAGGGGAGCTGGTGAAGGAAGACCCCCGTCTCCCCACAGCTGCCCCACCCCCCGCCCCTGGCAGGAAATGCCACACTGGGGAGGGTCTCCAGTCTCAGGGGCGCGGGGCTGCCTGTCCTCCACCTTCGGATTCCAGGCAGTTGTGACAACACCAGCTATCGGCAGAGCTATTAATAGTGTTTCAGGGAGTG... | AAAATGGAGGCATAACATGTCCTAGAAAAATAAAGATTTAGGATACAAAGGAGACACAGCGGCAGGGCTGCCCCCAGGGATGAGGGAATCTTTGGTCTGGGCCGGATAATGAGGACAAGGGCTTGAGTCGAGGGGAGCTGGTGAAGGAAGACCCCCGTCTCCCCACAGCTGCCCCACCCCCCGCCCCTGGCAGGAAATGCCACACTGGGGAGGGTCTCCAGTCTCAGGGGCGCGGGGCTGCCTGTCCTCCACCTTCGGATTCCAGGCAGTTGTGACAACACCAGCTATCGGCAGAGCTATTAATAGTGTTTCAGGGAGTG... |
Task1_train_27383 | Gene CALM3 (calmodulin 3), found on Chromosome 19, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Long QT syndrome 1 | AGATGTGAGTTCCATTGAGTTTGGGACTTGGTTTTGTTGGTCCCTGCTATAGCCTTAATGCCTGCCTAGAACGTAGTAGGTCCTCCGCAAACTTTTGCTGGCTAAACAAACATCTCTCTCTCAGCAAGCTAGAAGAAATCCCTGGATCCCATCTAATTCATTTTTCTAACCCCTCCAAAACCCCAGAAGGGTCAGCTACAGGAACTATTGTGTAATTACAGATCCGTGCCTGCCTACCCGCCCATACTGAGCTGCCCGAGGACAGAGAGCAACTCTTGGTTTATCTCCATAGCCAGGGGCCAGCACACAGTAGACCAGAG... | AGATGTGAGTTCCATTGAGTTTGGGACTTGGTTTTGTTGGTCCCTGCTATAGCCTTAATGCCTGCCTAGAACGTAGTAGGTCCTCCGCAAACTTTTGCTGGCTAAACAAACATCTCTCTCTCAGCAAGCTAGAAGAAATCCCTGGATCCCATCTAATTCATTTTTCTAACCCCTCCAAAACCCCAGAAGGGTCAGCTACAGGAACTATTGTGTAATTACAGATCCGTGCCTGCCTACCCGCCCATACTGAGCTGCCCGAGGACAGAGAGCAACTCTTGGTTTATCTCCATAGCCAGGGGCCAGCACACAGTAGACCAGAG... |
Task1_train_27384 | A variant has been detected on Chromosome 19 in CALM3 (calmodulin 3). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Long QT syndrome 1 | CAGAGAGCAACTCTTGGTTTATCTCCATAGCCAGGGGCCAGCACACAGTAGACCAGAGTAGCGATCCAGAGAATGGGCCTCTGCTCCCCACCAGCTACCCAGCCCCCAGCTCTGCTGTCAGGTTCAACCGGCTGTGTAACAAGTACTAAAGGCCCAGCTTCTGCGGTGGGAGGCAGGAACGGACTTGCCTTCTCTCCTTTCTCCCCTCAACCCGCATCACAGAGTCACCTTTGCAGCTTCAAAATTTTGGCCCTGGGTGGCTATGGAGACCCCTGAGGAAAGCCAGAAGATGGCCTGGTTTAGTGATCATGAGCTCGGGG... | CAGAGAGCAACTCTTGGTTTATCTCCATAGCCAGGGGCCAGCACACAGTAGACCAGAGTAGCGATCCAGAGAATGGGCCTCTGCTCCCCACCAGCTACCCAGCCCCCAGCTCTGCTGTCAGGTTCAACCGGCTGTGTAACAAGTACTAAAGGCCCAGCTTCTGCGGTGGGAGGCAGGAACGGACTTGCCTTCTCTCCTTTCTCCCCTCAACCCGCATCACAGAGTCACCTTTGCAGCTTCAAAATTTTGGCCCTGGGTGGCTATGGAGACCCCTGAGGAAAGCCAGAAGATGGCCTGGTTTAGTGATCATGAGCTCGGGG... |
Task1_train_27385 | A variant has been detected on Chromosome 19 in CALM3 (calmodulin 3). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Long QT syndrome 16 | CAGAGAGCAACTCTTGGTTTATCTCCATAGCCAGGGGCCAGCACACAGTAGACCAGAGTAGCGATCCAGAGAATGGGCCTCTGCTCCCCACCAGCTACCCAGCCCCCAGCTCTGCTGTCAGGTTCAACCGGCTGTGTAACAAGTACTAAAGGCCCAGCTTCTGCGGTGGGAGGCAGGAACGGACTTGCCTTCTCTCCTTTCTCCCCTCAACCCGCATCACAGAGTCACCTTTGCAGCTTCAAAATTTTGGCCCTGGGTGGCTATGGAGACCCCTGAGGAAAGCCAGAAGATGGCCTGGTTTAGTGATCATGAGCTCGGGG... | CAGAGAGCAACTCTTGGTTTATCTCCATAGCCAGGGGCCAGCACACAGTAGACCAGAGTAGCGATCCAGAGAATGGGCCTCTGCTCCCCACCAGCTACCCAGCCCCCAGCTCTGCTGTCAGGTTCAACCGGCTGTGTAACAAGTACTAAAGGCCCAGCTTCTGCGGTGGGAGGCAGGAACGGACTTGCCTTCTCTCCTTTCTCCCCTCAACCCGCATCACAGAGTCACCTTTGCAGCTTCAAAATTTTGGCCCTGGGTGGCTATGGAGACCCCTGAGGAAAGCCAGAAGATGGCCTGGTTTAGTGATCATGAGCTCGGGG... |
Task1_train_27386 | Gene CALM3 (calmodulin 3) on Chromosome 19 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Long QT syndrome 16 | CCCCAGCTCTGCTGTCAGGTTCAACCGGCTGTGTAACAAGTACTAAAGGCCCAGCTTCTGCGGTGGGAGGCAGGAACGGACTTGCCTTCTCTCCTTTCTCCCCTCAACCCGCATCACAGAGTCACCTTTGCAGCTTCAAAATTTTGGCCCTGGGTGGCTATGGAGACCCCTGAGGAAAGCCAGAAGATGGCCTGGTTTAGTGATCATGAGCTCGGGGTGCCCCATGACCCACTCACTACCTGCCCTCCCCAAGAACAACAAGGCCTCAGCACAGGGAGGTGCCAGCCTCCCCAAAGAGACTCTTGCCATGTCCCCAGGGC... | CCCCAGCTCTGCTGTCAGGTTCAACCGGCTGTGTAACAAGTACTAAAGGCCCAGCTTCTGCGGTGGGAGGCAGGAACGGACTTGCCTTCTCTCCTTTCTCCCCTCAACCCGCATCACAGAGTCACCTTTGCAGCTTCAAAATTTTGGCCCTGGGTGGCTATGGAGACCCCTGAGGAAAGCCAGAAGATGGCCTGGTTTAGTGATCATGAGCTCGGGGTGCCCCATGACCCACTCACTACCTGCCCTCCCCAAGAACAACAAGGCCTCAGCACAGGGAGGTGCCAGCCTCCCCAAAGAGACTCTTGCCATGTCCCCAGGGC... |
Task1_train_27387 | A mutation found in CALM3 (calmodulin 3) on Chromosome 19 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Long QT syndrome 1 | CCCAGCTCTGCTGTCAGGTTCAACCGGCTGTGTAACAAGTACTAAAGGCCCAGCTTCTGCGGTGGGAGGCAGGAACGGACTTGCCTTCTCTCCTTTCTCCCCTCAACCCGCATCACAGAGTCACCTTTGCAGCTTCAAAATTTTGGCCCTGGGTGGCTATGGAGACCCCTGAGGAAAGCCAGAAGATGGCCTGGTTTAGTGATCATGAGCTCGGGGTGCCCCATGACCCACTCACTACCTGCCCTCCCCAAGAACAACAAGGCCTCAGCACAGGGAGGTGCCAGCCTCCCCAAAGAGACTCTTGCCATGTCCCCAGGGCC... | CCCAGCTCTGCTGTCAGGTTCAACCGGCTGTGTAACAAGTACTAAAGGCCCAGCTTCTGCGGTGGGAGGCAGGAACGGACTTGCCTTCTCTCCTTTCTCCCCTCAACCCGCATCACAGAGTCACCTTTGCAGCTTCAAAATTTTGGCCCTGGGTGGCTATGGAGACCCCTGAGGAAAGCCAGAAGATGGCCTGGTTTAGTGATCATGAGCTCGGGGTGCCCCATGACCCACTCACTACCTGCCCTCCCCAAGAACAACAAGGCCTCAGCACAGGGAGGTGCCAGCCTCCCCAAAGAGACTCTTGCCATGTCCCCAGGGCC... |
Task1_train_27388 | Gene CALM3 (calmodulin 3) on Chromosome 19 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | TCTGCTGTCAGGTTCAACCGGCTGTGTAACAAGTACTAAAGGCCCAGCTTCTGCGGTGGGAGGCAGGAACGGACTTGCCTTCTCTCCTTTCTCCCCTCAACCCGCATCACAGAGTCACCTTTGCAGCTTCAAAATTTTGGCCCTGGGTGGCTATGGAGACCCCTGAGGAAAGCCAGAAGATGGCCTGGTTTAGTGATCATGAGCTCGGGGTGCCCCATGACCCACTCACTACCTGCCCTCCCCAAGAACAACAAGGCCTCAGCACAGGGAGGTGCCAGCCTCCCCAAAGAGACTCTTGCCATGTCCCCAGGGCCCAGAGG... | TCTGCTGTCAGGTTCAACCGGCTGTGTAACAAGTACTAAAGGCCCAGCTTCTGCGGTGGGAGGCAGGAACGGACTTGCCTTCTCTCCTTTCTCCCCTCAACCCGCATCACAGAGTCACCTTTGCAGCTTCAAAATTTTGGCCCTGGGTGGCTATGGAGACCCCTGAGGAAAGCCAGAAGATGGCCTGGTTTAGTGATCATGAGCTCGGGGTGCCCCATGACCCACTCACTACCTGCCCTCCCCAAGAACAACAAGGCCTCAGCACAGGGAGGTGCCAGCCTCCCCAAAGAGACTCTTGCCATGTCCCCAGGGCCCAGAGG... |
Task1_train_27389 | Consider this mutation in CALM3 (calmodulin 3) on Chromosome 19. Is this a benign change or a disease-causing variant? | Pathogenic; Long QT syndrome 1 | GTAACAAGTACTAAAGGCCCAGCTTCTGCGGTGGGAGGCAGGAACGGACTTGCCTTCTCTCCTTTCTCCCCTCAACCCGCATCACAGAGTCACCTTTGCAGCTTCAAAATTTTGGCCCTGGGTGGCTATGGAGACCCCTGAGGAAAGCCAGAAGATGGCCTGGTTTAGTGATCATGAGCTCGGGGTGCCCCATGACCCACTCACTACCTGCCCTCCCCAAGAACAACAAGGCCTCAGCACAGGGAGGTGCCAGCCTCCCCAAAGAGACTCTTGCCATGTCCCCAGGGCCCAGAGGCTCAGGGCCACAGCTTCCCAGCTGT... | GTAACAAGTACTAAAGGCCCAGCTTCTGCGGTGGGAGGCAGGAACGGACTTGCCTTCTCTCCTTTCTCCCCTCAACCCGCATCACAGAGTCACCTTTGCAGCTTCAAAATTTTGGCCCTGGGTGGCTATGGAGACCCCTGAGGAAAGCCAGAAGATGGCCTGGTTTAGTGATCATGAGCTCGGGGTGCCCCATGACCCACTCACTACCTGCCCTCCCCAAGAACAACAAGGCCTCAGCACAGGGAGGTGCCAGCCTCCCCAAAGAGACTCTTGCCATGTCCCCAGGGCCCAGAGGCTCAGGGCCACAGCTTCCCAGCTGT... |
Task1_train_27390 | Here is a genetic alteration in CALM3 (calmodulin 3) on Chromosome 19. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Long QT syndrome 16 | GTAACAAGTACTAAAGGCCCAGCTTCTGCGGTGGGAGGCAGGAACGGACTTGCCTTCTCTCCTTTCTCCCCTCAACCCGCATCACAGAGTCACCTTTGCAGCTTCAAAATTTTGGCCCTGGGTGGCTATGGAGACCCCTGAGGAAAGCCAGAAGATGGCCTGGTTTAGTGATCATGAGCTCGGGGTGCCCCATGACCCACTCACTACCTGCCCTCCCCAAGAACAACAAGGCCTCAGCACAGGGAGGTGCCAGCCTCCCCAAAGAGACTCTTGCCATGTCCCCAGGGCCCAGAGGCTCAGGGCCACAGCTTCCCAGCTGT... | GTAACAAGTACTAAAGGCCCAGCTTCTGCGGTGGGAGGCAGGAACGGACTTGCCTTCTCTCCTTTCTCCCCTCAACCCGCATCACAGAGTCACCTTTGCAGCTTCAAAATTTTGGCCCTGGGTGGCTATGGAGACCCCTGAGGAAAGCCAGAAGATGGCCTGGTTTAGTGATCATGAGCTCGGGGTGCCCCATGACCCACTCACTACCTGCCCTCCCCAAGAACAACAAGGCCTCAGCACAGGGAGGTGCCAGCCTCCCCAAAGAGACTCTTGCCATGTCCCCAGGGCCCAGAGGCTCAGGGCCACAGCTTCCCAGCTGT... |
Task1_train_27391 | A mutation in FKRP (fukutin related protein), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Walker-Warburg congenital muscular dystrophy | GATGAGATAGCTGCCACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCCATCTCAAAAAAAAAAAAGAAAAGAAAAGAAATAAGAGCAGTTTGAGAAAATGTTCAGGGTGACTTAAACATACAGGTTGGGGAAAGCATGGCAAGAGATGAGGGTGGAATGGGGGGCAGACAAGGGGAATGTCAGAAGCAGCTTCCACTTTCTCCCCTGGGCACTGGGAGCCATGGCAAGTTCAGAGCAGGGGAAGGAGAGGTCCAACTTGTGCTTTAGGAAGACTCCTCTGGCTATCACGGGGAGAGGAATTGCCAGGAGACCAGGGGG... | GATGAGATAGCTGCCACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCCATCTCAAAAAAAAAAAAGAAAAGAAAAGAAATAAGAGCAGTTTGAGAAAATGTTCAGGGTGACTTAAACATACAGGTTGGGGAAAGCATGGCAAGAGATGAGGGTGGAATGGGGGGCAGACAAGGGGAATGTCAGAAGCAGCTTCCACTTTCTCCCCTGGGCACTGGGAGCCATGGCAAGTTCAGAGCAGGGGAAGGAGAGGTCCAACTTGTGCTTTAGGAAGACTCCTCTGGCTATCACGGGGAGAGGAATTGCCAGGAGACCAGGGGG... |
Task1_train_27392 | A mutation on Chromosome 19 affecting FKRP (fukutin related protein) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | GATGAGATAGCTGCCACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCCATCTCAAAAAAAAAAAAGAAAAGAAAAGAAATAAGAGCAGTTTGAGAAAATGTTCAGGGTGACTTAAACATACAGGTTGGGGAAAGCATGGCAAGAGATGAGGGTGGAATGGGGGGCAGACAAGGGGAATGTCAGAAGCAGCTTCCACTTTCTCCCCTGGGCACTGGGAGCCATGGCAAGTTCAGAGCAGGGGAAGGAGAGGTCCAACTTGTGCTTTAGGAAGACTCCTCTGGCTATCACGGGGAGAGGAATTGCCAGGAGACCAGGGGG... | GATGAGATAGCTGCCACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCCATCTCAAAAAAAAAAAAGAAAAGAAAAGAAATAAGAGCAGTTTGAGAAAATGTTCAGGGTGACTTAAACATACAGGTTGGGGAAAGCATGGCAAGAGATGAGGGTGGAATGGGGGGCAGACAAGGGGAATGTCAGAAGCAGCTTCCACTTTCTCCCCTGGGCACTGGGAGCCATGGCAAGTTCAGAGCAGGGGAAGGAGAGGTCCAACTTGTGCTTTAGGAAGACTCCTCTGGCTATCACGGGGAGAGGAATTGCCAGGAGACCAGGGGG... |
Task1_train_27393 | This alteration in FKRP (fukutin related protein) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Walker-Warburg congenital muscular dystrophy | AGGGTGGAATGGGGGGCAGACAAGGGGAATGTCAGAAGCAGCTTCCACTTTCTCCCCTGGGCACTGGGAGCCATGGCAAGTTCAGAGCAGGGGAAGGAGAGGTCCAACTTGTGCTTTAGGAAGACTCCTCTGGCTATCACGGGGAGAGGAATTGCCAGGAGACCAGGGGGAGGTTGGATGGGAATGTGGGTGGACCTGGTTGAGGAGGGAGCTGTGGAAATGGGGAGGAGGGGACAGAGGATTTAGGACATAGGGAGGTTAGTTGGATGCCCCCTCTCTCTAGGAAGGGCAGAAACCTACAAAAAGCCTTCATGGGGAAA... | AGGGTGGAATGGGGGGCAGACAAGGGGAATGTCAGAAGCAGCTTCCACTTTCTCCCCTGGGCACTGGGAGCCATGGCAAGTTCAGAGCAGGGGAAGGAGAGGTCCAACTTGTGCTTTAGGAAGACTCCTCTGGCTATCACGGGGAGAGGAATTGCCAGGAGACCAGGGGGAGGTTGGATGGGAATGTGGGTGGACCTGGTTGAGGAGGGAGCTGTGGAAATGGGGAGGAGGGGACAGAGGATTTAGGACATAGGGAGGTTAGTTGGATGCCCCCTCTCTCTAGGAAGGGCAGAAACCTACAAAAAGCCTTCATGGGGAAA... |
Task1_train_27394 | This is a variant in FKRP (fukutin related protein), located on Chromosome 19. Is this mutation a likely cause of disease or not? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2I | GGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTG... | GGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTG... |
Task1_train_27395 | This variant impacts the gene FKRP (fukutin related protein) on Chromosome 19. Is the change likely to result in a pathogenic outcome? | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | GGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTG... | GGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTG... |
Task1_train_27396 | This mutation is located in gene FKRP (fukutin related protein) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Cardiovascular phenotype | GGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTG... | GGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTG... |
Task1_train_27397 | Here is a variant affecting FKRP (fukutin related protein) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Walker-Warburg congenital muscular dystrophy | GGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTG... | GGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTG... |
Task1_train_27398 | This alteration occurs within gene FKRP (fukutin related protein) located on Chromosome 19. Is it associated with a disease or is it a benign variant? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2I | GGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTG... | GGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTG... |
Task1_train_27399 | Chromosome 19 houses a mutation in gene FKRP (fukutin related protein). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Muscular dystrophy-dystroglycanopathy type B5 | GGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTG... | GGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTG... |
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