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 |
|---|---|---|---|---|
Task1_train_18100 | A mutation found in CEP290 (centrosomal protein 290) on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Nephronophthisis | AAATTTCAATAACAAAATTAATTCTTTTAAAAGAGTCCATCATGATTATAAGGTAACAAAAAGTATTATATGGCAGATCCATAAAATAGGAGTCTAGAAATATTTATTATTAAATGTTATATATTAAAAATAAACTGAATATATATATTTTATAGAATATAATTTAATTTTCTACAGTTTAATGAACAAATGGAATTCATTATTTAATACCATAATAAACTTTTTCCAAGGTGCTTACCAAATTTTGCTTGTTCTTCTCCAGCTTTTTCTACTTCTTCCAAAGCCAGCTCCACTTCTTGAGCTTTCATCTAAACATTAAA... | AAATTTCAATAACAAAATTAATTCTTTTAAAAGAGTCCATCATGATTATAAGGTAACAAAAAGTATTATATGGCAGATCCATAAAATAGGAGTCTAGAAATATTTATTATTAAATGTTATATATTAAAAATAAACTGAATATATATATTTTATAGAATATAATTTAATTTTCTACAGTTTAATGAACAAATGGAATTCATTATTTAATACCATAATAAACTTTTTCCAAGGTGCTTACCAAATTTTGCTTGTTCTTCTCCAGCTTTTTCTACTTCTTCCAAAGCCAGCTCCACTTCTTGAGCTTTCATCTAAACATTAAA... |
Task1_train_18101 | Given a variant located on Chromosome 12 and affecting CEP290 (centrosomal protein 290), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Familial aplasia of the vermis | AAATTTCAATAACAAAATTAATTCTTTTAAAAGAGTCCATCATGATTATAAGGTAACAAAAAGTATTATATGGCAGATCCATAAAATAGGAGTCTAGAAATATTTATTATTAAATGTTATATATTAAAAATAAACTGAATATATATATTTTATAGAATATAATTTAATTTTCTACAGTTTAATGAACAAATGGAATTCATTATTTAATACCATAATAAACTTTTTCCAAGGTGCTTACCAAATTTTGCTTGTTCTTCTCCAGCTTTTTCTACTTCTTCCAAAGCCAGCTCCACTTCTTGAGCTTTCATCTAAACATTAAA... | AAATTTCAATAACAAAATTAATTCTTTTAAAAGAGTCCATCATGATTATAAGGTAACAAAAAGTATTATATGGCAGATCCATAAAATAGGAGTCTAGAAATATTTATTATTAAATGTTATATATTAAAAATAAACTGAATATATATATTTTATAGAATATAATTTAATTTTCTACAGTTTAATGAACAAATGGAATTCATTATTTAATACCATAATAAACTTTTTCCAAGGTGCTTACCAAATTTTGCTTGTTCTTCTCCAGCTTTTTCTACTTCTTCCAAAGCCAGCTCCACTTCTTGAGCTTTCATCTAAACATTAAA... |
Task1_train_18102 | A mutation in CEP290 (centrosomal protein 290), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Joubert syndrome 5 | AAATTTCAATAACAAAATTAATTCTTTTAAAAGAGTCCATCATGATTATAAGGTAACAAAAAGTATTATATGGCAGATCCATAAAATAGGAGTCTAGAAATATTTATTATTAAATGTTATATATTAAAAATAAACTGAATATATATATTTTATAGAATATAATTTAATTTTCTACAGTTTAATGAACAAATGGAATTCATTATTTAATACCATAATAAACTTTTTCCAAGGTGCTTACCAAATTTTGCTTGTTCTTCTCCAGCTTTTTCTACTTCTTCCAAAGCCAGCTCCACTTCTTGAGCTTTCATCTAAACATTAAA... | AAATTTCAATAACAAAATTAATTCTTTTAAAAGAGTCCATCATGATTATAAGGTAACAAAAAGTATTATATGGCAGATCCATAAAATAGGAGTCTAGAAATATTTATTATTAAATGTTATATATTAAAAATAAACTGAATATATATATTTTATAGAATATAATTTAATTTTCTACAGTTTAATGAACAAATGGAATTCATTATTTAATACCATAATAAACTTTTTCCAAGGTGCTTACCAAATTTTGCTTGTTCTTCTCCAGCTTTTTCTACTTCTTCCAAAGCCAGCTCCACTTCTTGAGCTTTCATCTAAACATTAAA... |
Task1_train_18103 | A mutation found in CEP290 (centrosomal protein 290) on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Bardet-Biedl syndrome 14 | AAATTTCAATAACAAAATTAATTCTTTTAAAAGAGTCCATCATGATTATAAGGTAACAAAAAGTATTATATGGCAGATCCATAAAATAGGAGTCTAGAAATATTTATTATTAAATGTTATATATTAAAAATAAACTGAATATATATATTTTATAGAATATAATTTAATTTTCTACAGTTTAATGAACAAATGGAATTCATTATTTAATACCATAATAAACTTTTTCCAAGGTGCTTACCAAATTTTGCTTGTTCTTCTCCAGCTTTTTCTACTTCTTCCAAAGCCAGCTCCACTTCTTGAGCTTTCATCTAAACATTAAA... | AAATTTCAATAACAAAATTAATTCTTTTAAAAGAGTCCATCATGATTATAAGGTAACAAAAAGTATTATATGGCAGATCCATAAAATAGGAGTCTAGAAATATTTATTATTAAATGTTATATATTAAAAATAAACTGAATATATATATTTTATAGAATATAATTTAATTTTCTACAGTTTAATGAACAAATGGAATTCATTATTTAATACCATAATAAACTTTTTCCAAGGTGCTTACCAAATTTTGCTTGTTCTTCTCCAGCTTTTTCTACTTCTTCCAAAGCCAGCTCCACTTCTTGAGCTTTCATCTAAACATTAAA... |
Task1_train_18104 | Given this variant in gene CEP290 (centrosomal protein 290) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Leber congenital amaurosis 10 | AAATTTCAATAACAAAATTAATTCTTTTAAAAGAGTCCATCATGATTATAAGGTAACAAAAAGTATTATATGGCAGATCCATAAAATAGGAGTCTAGAAATATTTATTATTAAATGTTATATATTAAAAATAAACTGAATATATATATTTTATAGAATATAATTTAATTTTCTACAGTTTAATGAACAAATGGAATTCATTATTTAATACCATAATAAACTTTTTCCAAGGTGCTTACCAAATTTTGCTTGTTCTTCTCCAGCTTTTTCTACTTCTTCCAAAGCCAGCTCCACTTCTTGAGCTTTCATCTAAACATTAAA... | AAATTTCAATAACAAAATTAATTCTTTTAAAAGAGTCCATCATGATTATAAGGTAACAAAAAGTATTATATGGCAGATCCATAAAATAGGAGTCTAGAAATATTTATTATTAAATGTTATATATTAAAAATAAACTGAATATATATATTTTATAGAATATAATTTAATTTTCTACAGTTTAATGAACAAATGGAATTCATTATTTAATACCATAATAAACTTTTTCCAAGGTGCTTACCAAATTTTGCTTGTTCTTCTCCAGCTTTTTCTACTTCTTCCAAAGCCAGCTCCACTTCTTGAGCTTTCATCTAAACATTAAA... |
Task1_train_18105 | Gene CEP290 (centrosomal protein 290), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Meckel syndrome, type 4 | AAATTTCAATAACAAAATTAATTCTTTTAAAAGAGTCCATCATGATTATAAGGTAACAAAAAGTATTATATGGCAGATCCATAAAATAGGAGTCTAGAAATATTTATTATTAAATGTTATATATTAAAAATAAACTGAATATATATATTTTATAGAATATAATTTAATTTTCTACAGTTTAATGAACAAATGGAATTCATTATTTAATACCATAATAAACTTTTTCCAAGGTGCTTACCAAATTTTGCTTGTTCTTCTCCAGCTTTTTCTACTTCTTCCAAAGCCAGCTCCACTTCTTGAGCTTTCATCTAAACATTAAA... | AAATTTCAATAACAAAATTAATTCTTTTAAAAGAGTCCATCATGATTATAAGGTAACAAAAAGTATTATATGGCAGATCCATAAAATAGGAGTCTAGAAATATTTATTATTAAATGTTATATATTAAAAATAAACTGAATATATATATTTTATAGAATATAATTTAATTTTCTACAGTTTAATGAACAAATGGAATTCATTATTTAATACCATAATAAACTTTTTCCAAGGTGCTTACCAAATTTTGCTTGTTCTTCTCCAGCTTTTTCTACTTCTTCCAAAGCCAGCTCCACTTCTTGAGCTTTCATCTAAACATTAAA... |
Task1_train_18106 | This sequence change occurs on Chromosome 12, altering CEP290 (centrosomal protein 290). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Senior-Loken syndrome 6 | AAATTTCAATAACAAAATTAATTCTTTTAAAAGAGTCCATCATGATTATAAGGTAACAAAAAGTATTATATGGCAGATCCATAAAATAGGAGTCTAGAAATATTTATTATTAAATGTTATATATTAAAAATAAACTGAATATATATATTTTATAGAATATAATTTAATTTTCTACAGTTTAATGAACAAATGGAATTCATTATTTAATACCATAATAAACTTTTTCCAAGGTGCTTACCAAATTTTGCTTGTTCTTCTCCAGCTTTTTCTACTTCTTCCAAAGCCAGCTCCACTTCTTGAGCTTTCATCTAAACATTAAA... | AAATTTCAATAACAAAATTAATTCTTTTAAAAGAGTCCATCATGATTATAAGGTAACAAAAAGTATTATATGGCAGATCCATAAAATAGGAGTCTAGAAATATTTATTATTAAATGTTATATATTAAAAATAAACTGAATATATATATTTTATAGAATATAATTTAATTTTCTACAGTTTAATGAACAAATGGAATTCATTATTTAATACCATAATAAACTTTTTCCAAGGTGCTTACCAAATTTTGCTTGTTCTTCTCCAGCTTTTTCTACTTCTTCCAAAGCCAGCTCCACTTCTTGAGCTTTCATCTAAACATTAAA... |
Task1_train_18107 | A variant was discovered on Chromosome 12, affecting CEP290 (centrosomal protein 290). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Familial aplasia of the vermis | ATTTCAATAACAAAATTAATTCTTTTAAAAGAGTCCATCATGATTATAAGGTAACAAAAAGTATTATATGGCAGATCCATAAAATAGGAGTCTAGAAATATTTATTATTAAATGTTATATATTAAAAATAAACTGAATATATATATTTTATAGAATATAATTTAATTTTCTACAGTTTAATGAACAAATGGAATTCATTATTTAATACCATAATAAACTTTTTCCAAGGTGCTTACCAAATTTTGCTTGTTCTTCTCCAGCTTTTTCTACTTCTTCCAAAGCCAGCTCCACTTCTTGAGCTTTCATCTAAACATTAAAAA... | ATTTCAATAACAAAATTAATTCTTTTAAAAGAGTCCATCATGATTATAAGGTAACAAAAAGTATTATATGGCAGATCCATAAAATAGGAGTCTAGAAATATTTATTATTAAATGTTATATATTAAAAATAAACTGAATATATATATTTTATAGAATATAATTTAATTTTCTACAGTTTAATGAACAAATGGAATTCATTATTTAATACCATAATAAACTTTTTCCAAGGTGCTTACCAAATTTTGCTTGTTCTTCTCCAGCTTTTTCTACTTCTTCCAAAGCCAGCTCCACTTCTTGAGCTTTCATCTAAACATTAAAAA... |
Task1_train_18108 | Mutation context: Chromosome 12, Gene CEP290 (centrosomal protein 290). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Meckel-Gruber syndrome | ATTTCAATAACAAAATTAATTCTTTTAAAAGAGTCCATCATGATTATAAGGTAACAAAAAGTATTATATGGCAGATCCATAAAATAGGAGTCTAGAAATATTTATTATTAAATGTTATATATTAAAAATAAACTGAATATATATATTTTATAGAATATAATTTAATTTTCTACAGTTTAATGAACAAATGGAATTCATTATTTAATACCATAATAAACTTTTTCCAAGGTGCTTACCAAATTTTGCTTGTTCTTCTCCAGCTTTTTCTACTTCTTCCAAAGCCAGCTCCACTTCTTGAGCTTTCATCTAAACATTAAAAA... | ATTTCAATAACAAAATTAATTCTTTTAAAAGAGTCCATCATGATTATAAGGTAACAAAAAGTATTATATGGCAGATCCATAAAATAGGAGTCTAGAAATATTTATTATTAAATGTTATATATTAAAAATAAACTGAATATATATATTTTATAGAATATAATTTAATTTTCTACAGTTTAATGAACAAATGGAATTCATTATTTAATACCATAATAAACTTTTTCCAAGGTGCTTACCAAATTTTGCTTGTTCTTCTCCAGCTTTTTCTACTTCTTCCAAAGCCAGCTCCACTTCTTGAGCTTTCATCTAAACATTAAAAA... |
Task1_train_18109 | This variant lies on Chromosome 12 and affects the gene CEP290 (centrosomal protein 290). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Nephronophthisis | ATTTCAATAACAAAATTAATTCTTTTAAAAGAGTCCATCATGATTATAAGGTAACAAAAAGTATTATATGGCAGATCCATAAAATAGGAGTCTAGAAATATTTATTATTAAATGTTATATATTAAAAATAAACTGAATATATATATTTTATAGAATATAATTTAATTTTCTACAGTTTAATGAACAAATGGAATTCATTATTTAATACCATAATAAACTTTTTCCAAGGTGCTTACCAAATTTTGCTTGTTCTTCTCCAGCTTTTTCTACTTCTTCCAAAGCCAGCTCCACTTCTTGAGCTTTCATCTAAACATTAAAAA... | ATTTCAATAACAAAATTAATTCTTTTAAAAGAGTCCATCATGATTATAAGGTAACAAAAAGTATTATATGGCAGATCCATAAAATAGGAGTCTAGAAATATTTATTATTAAATGTTATATATTAAAAATAAACTGAATATATATATTTTATAGAATATAATTTAATTTTCTACAGTTTAATGAACAAATGGAATTCATTATTTAATACCATAATAAACTTTTTCCAAGGTGCTTACCAAATTTTGCTTGTTCTTCTCCAGCTTTTTCTACTTCTTCCAAAGCCAGCTCCACTTCTTGAGCTTTCATCTAAACATTAAAAA... |
Task1_train_18110 | This mutation occurs in CEP290 (centrosomal protein 290) on Chromosome 12. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Retinal dystrophy | ATTTCAATAACAAAATTAATTCTTTTAAAAGAGTCCATCATGATTATAAGGTAACAAAAAGTATTATATGGCAGATCCATAAAATAGGAGTCTAGAAATATTTATTATTAAATGTTATATATTAAAAATAAACTGAATATATATATTTTATAGAATATAATTTAATTTTCTACAGTTTAATGAACAAATGGAATTCATTATTTAATACCATAATAAACTTTTTCCAAGGTGCTTACCAAATTTTGCTTGTTCTTCTCCAGCTTTTTCTACTTCTTCCAAAGCCAGCTCCACTTCTTGAGCTTTCATCTAAACATTAAAAA... | ATTTCAATAACAAAATTAATTCTTTTAAAAGAGTCCATCATGATTATAAGGTAACAAAAAGTATTATATGGCAGATCCATAAAATAGGAGTCTAGAAATATTTATTATTAAATGTTATATATTAAAAATAAACTGAATATATATATTTTATAGAATATAATTTAATTTTCTACAGTTTAATGAACAAATGGAATTCATTATTTAATACCATAATAAACTTTTTCCAAGGTGCTTACCAAATTTTGCTTGTTCTTCTCCAGCTTTTTCTACTTCTTCCAAAGCCAGCTCCACTTCTTGAGCTTTCATCTAAACATTAAAAA... |
Task1_train_18111 | This mutation occurs in TMTC3 (transmembrane O-mannosyltransferase targeting cadherins 3) on Chromosome 12. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Lissencephaly 8 | ATCTTGGCCCTTTTATAACTTCTTCCCCATTGATTCAGGATGTACCTTGCTTGAATAATAATTTTTAAAATACGCACTAAATAGAGCCTTATAAAGAGCTTGTGCATTGAACCTTGCCCTCCTGTTGTCCTGAGATCATCATTTAAGAAGCCTAAGATAACCTATTAGAGGATGTGTTAATAAGTAGCAGAGACTAGTTTTCAAAGCTGAGAAATCTACCCTTTAAAAGCCATCCAGCCCTAATCAAGCCACTGGATAACTATAAGCACATGAGTGACCCCAGGCACAACTAACAGAAGAACCATATACATACCTATATA... | ATCTTGGCCCTTTTATAACTTCTTCCCCATTGATTCAGGATGTACCTTGCTTGAATAATAATTTTTAAAATACGCACTAAATAGAGCCTTATAAAGAGCTTGTGCATTGAACCTTGCCCTCCTGTTGTCCTGAGATCATCATTTAAGAAGCCTAAGATAACCTATTAGAGGATGTGTTAATAAGTAGCAGAGACTAGTTTTCAAAGCTGAGAAATCTACCCTTTAAAAGCCATCCAGCCCTAATCAAGCCACTGGATAACTATAAGCACATGAGTGACCCCAGGCACAACTAACAGAAGAACCATATACATACCTATATA... |
Task1_train_18112 | With a mutation on Chromosome 12 in gene KITLG (KIT ligand), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Waardenburg syndrome, IIa 2F | AGTTGCTCCTTTGAAAATGTTAATAAAATCCATAGTTGGTAAGAAAACCCTTAATTGACTAACACACAAACAGGGCTCTAGTCCCTTTTTGACACATTTTAGAACTGATATGCTACGTAATTTAGAATTTTAGGTTTCAGAAGATTCTGTCCTGCACATAATGTATAACATATACTATCCCCAGTGAATCCTGGGTAGCATTCTGTAATCAAATACATTAATATTTCATTAGTAAAATATATATTCACTTTTAGAAAGATAAATAGACTATAAATAGCCTCAAATCACTTCAGGTCAGGTTTTGGTGGCAAAAAATTCCA... | AGTTGCTCCTTTGAAAATGTTAATAAAATCCATAGTTGGTAAGAAAACCCTTAATTGACTAACACACAAACAGGGCTCTAGTCCCTTTTTGACACATTTTAGAACTGATATGCTACGTAATTTAGAATTTTAGGTTTCAGAAGATTCTGTCCTGCACATAATGTATAACATATACTATCCCCAGTGAATCCTGGGTAGCATTCTGTAATCAAATACATTAATATTTCATTAGTAAAATATATATTCACTTTTAGAAAGATAAATAGACTATAAATAGCCTCAAATCACTTCAGGTCAGGTTTTGGTGGCAAAAAATTCCA... |
Task1_train_18113 | A variant was discovered in gene KITLG (KIT ligand), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Hyperpigmentation with or without hypopigmentation, familial progressive | TAGCCAACAACTGACTTAGACCATTGGGTATTAAGATAACATACATTAAAAAGTAGTTTTGCACCATTACATCTTCAAGGGTCTATCTTGCTTTGTAGACTTATTTTTTTCCTTCATCTTGTCTCTAAAAACTTTATCTTCCTTATAGAAAGCTAAGATCATGTGCATGTTTGCTAGACTAGGTCATCTCGCACAAGTTTACTATAACATTTTCTGTATGATCCTGCTTGGTCTTGTCAATAGCTTCTAGAATCTGAGAACAATTTATTGATAAATGAATTTAGGCATGGGCGTAAGTAGTCAGATGGGAGCTAAGATAG... | TAGCCAACAACTGACTTAGACCATTGGGTATTAAGATAACATACATTAAAAAGTAGTTTTGCACCATTACATCTTCAAGGGTCTATCTTGCTTTGTAGACTTATTTTTTTCCTTCATCTTGTCTCTAAAAACTTTATCTTCCTTATAGAAAGCTAAGATCATGTGCATGTTTGCTAGACTAGGTCATCTCGCACAAGTTTACTATAACATTTTCTGTATGATCCTGCTTGGTCTTGTCAATAGCTTCTAGAATCTGAGAACAATTTATTGATAAATGAATTTAGGCATGGGCGTAAGTAGTCAGATGGGAGCTAAGATAG... |
Task1_train_18114 | Given a variant located on Chromosome 12 and affecting KITLG (KIT ligand), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | TAGCCAACAACTGACTTAGACCATTGGGTATTAAGATAACATACATTAAAAAGTAGTTTTGCACCATTACATCTTCAAGGGTCTATCTTGCTTTGTAGACTTATTTTTTTCCTTCATCTTGTCTCTAAAAACTTTATCTTCCTTATAGAAAGCTAAGATCATGTGCATGTTTGCTAGACTAGGTCATCTCGCACAAGTTTACTATAACATTTTCTGTATGATCCTGCTTGGTCTTGTCAATAGCTTCTAGAATCTGAGAACAATTTATTGATAAATGAATTTAGGCATGGGCGTAAGTAGTCAGATGGGAGCTAAGATAG... | TAGCCAACAACTGACTTAGACCATTGGGTATTAAGATAACATACATTAAAAAGTAGTTTTGCACCATTACATCTTCAAGGGTCTATCTTGCTTTGTAGACTTATTTTTTTCCTTCATCTTGTCTCTAAAAACTTTATCTTCCTTATAGAAAGCTAAGATCATGTGCATGTTTGCTAGACTAGGTCATCTCGCACAAGTTTACTATAACATTTTCTGTATGATCCTGCTTGGTCTTGTCAATAGCTTCTAGAATCTGAGAACAATTTATTGATAAATGAATTTAGGCATGGGCGTAAGTAGTCAGATGGGAGCTAAGATAG... |
Task1_train_18115 | Here’s a variant in KITLG (KIT ligand) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hyperpigmentation with or without hypopigmentation, familial progressive | AGCCAACAACTGACTTAGACCATTGGGTATTAAGATAACATACATTAAAAAGTAGTTTTGCACCATTACATCTTCAAGGGTCTATCTTGCTTTGTAGACTTATTTTTTTCCTTCATCTTGTCTCTAAAAACTTTATCTTCCTTATAGAAAGCTAAGATCATGTGCATGTTTGCTAGACTAGGTCATCTCGCACAAGTTTACTATAACATTTTCTGTATGATCCTGCTTGGTCTTGTCAATAGCTTCTAGAATCTGAGAACAATTTATTGATAAATGAATTTAGGCATGGGCGTAAGTAGTCAGATGGGAGCTAAGATAGT... | AGCCAACAACTGACTTAGACCATTGGGTATTAAGATAACATACATTAAAAAGTAGTTTTGCACCATTACATCTTCAAGGGTCTATCTTGCTTTGTAGACTTATTTTTTTCCTTCATCTTGTCTCTAAAAACTTTATCTTCCTTATAGAAAGCTAAGATCATGTGCATGTTTGCTAGACTAGGTCATCTCGCACAAGTTTACTATAACATTTTCTGTATGATCCTGCTTGGTCTTGTCAATAGCTTCTAGAATCTGAGAACAATTTATTGATAAATGAATTTAGGCATGGGCGTAAGTAGTCAGATGGGAGCTAAGATAGT... |
Task1_train_18116 | A sequence alteration has been identified in KITLG (KIT ligand) on Chromosome 12. Is it disease-inducing or harmless? | Pathogenic; Hyperpigmentation with or without hypopigmentation, familial progressive | AACTGACTTAGACCATTGGGTATTAAGATAACATACATTAAAAAGTAGTTTTGCACCATTACATCTTCAAGGGTCTATCTTGCTTTGTAGACTTATTTTTTTCCTTCATCTTGTCTCTAAAAACTTTATCTTCCTTATAGAAAGCTAAGATCATGTGCATGTTTGCTAGACTAGGTCATCTCGCACAAGTTTACTATAACATTTTCTGTATGATCCTGCTTGGTCTTGTCAATAGCTTCTAGAATCTGAGAACAATTTATTGATAAATGAATTTAGGCATGGGCGTAAGTAGTCAGATGGGAGCTAAGATAGTGACTGAT... | AACTGACTTAGACCATTGGGTATTAAGATAACATACATTAAAAAGTAGTTTTGCACCATTACATCTTCAAGGGTCTATCTTGCTTTGTAGACTTATTTTTTTCCTTCATCTTGTCTCTAAAAACTTTATCTTCCTTATAGAAAGCTAAGATCATGTGCATGTTTGCTAGACTAGGTCATCTCGCACAAGTTTACTATAACATTTTCTGTATGATCCTGCTTGGTCTTGTCAATAGCTTCTAGAATCTGAGAACAATTTATTGATAAATGAATTTAGGCATGGGCGTAAGTAGTCAGATGGGAGCTAAGATAGTGACTGAT... |
Task1_train_18117 | Gene KITLG (KIT ligand), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Hyperpigmentation with or without hypopigmentation, familial progressive | CTGACTTAGACCATTGGGTATTAAGATAACATACATTAAAAAGTAGTTTTGCACCATTACATCTTCAAGGGTCTATCTTGCTTTGTAGACTTATTTTTTTCCTTCATCTTGTCTCTAAAAACTTTATCTTCCTTATAGAAAGCTAAGATCATGTGCATGTTTGCTAGACTAGGTCATCTCGCACAAGTTTACTATAACATTTTCTGTATGATCCTGCTTGGTCTTGTCAATAGCTTCTAGAATCTGAGAACAATTTATTGATAAATGAATTTAGGCATGGGCGTAAGTAGTCAGATGGGAGCTAAGATAGTGACTGATCT... | CTGACTTAGACCATTGGGTATTAAGATAACATACATTAAAAAGTAGTTTTGCACCATTACATCTTCAAGGGTCTATCTTGCTTTGTAGACTTATTTTTTTCCTTCATCTTGTCTCTAAAAACTTTATCTTCCTTATAGAAAGCTAAGATCATGTGCATGTTTGCTAGACTAGGTCATCTCGCACAAGTTTACTATAACATTTTCTGTATGATCCTGCTTGGTCTTGTCAATAGCTTCTAGAATCTGAGAACAATTTATTGATAAATGAATTTAGGCATGGGCGTAAGTAGTCAGATGGGAGCTAAGATAGTGACTGATCT... |
Task1_train_18118 | This alteration occurs within gene KITLG (KIT ligand) located on Chromosome 12. Is it associated with a disease or is it a benign variant? | Pathogenic; Waardenburg syndrome, IIa 2F | CTTAGACCATTGGGTATTAAGATAACATACATTAAAAAGTAGTTTTGCACCATTACATCTTCAAGGGTCTATCTTGCTTTGTAGACTTATTTTTTTCCTTCATCTTGTCTCTAAAAACTTTATCTTCCTTATAGAAAGCTAAGATCATGTGCATGTTTGCTAGACTAGGTCATCTCGCACAAGTTTACTATAACATTTTCTGTATGATCCTGCTTGGTCTTGTCAATAGCTTCTAGAATCTGAGAACAATTTATTGATAAATGAATTTAGGCATGGGCGTAAGTAGTCAGATGGGAGCTAAGATAGTGACTGATCTCATG... | CTTAGACCATTGGGTATTAAGATAACATACATTAAAAAGTAGTTTTGCACCATTACATCTTCAAGGGTCTATCTTGCTTTGTAGACTTATTTTTTTCCTTCATCTTGTCTCTAAAAACTTTATCTTCCTTATAGAAAGCTAAGATCATGTGCATGTTTGCTAGACTAGGTCATCTCGCACAAGTTTACTATAACATTTTCTGTATGATCCTGCTTGGTCTTGTCAATAGCTTCTAGAATCTGAGAACAATTTATTGATAAATGAATTTAGGCATGGGCGTAAGTAGTCAGATGGGAGCTAAGATAGTGACTGATCTCATG... |
Task1_train_18119 | A variant affecting Chromosome 12, within the gene POC1B (POC1 centriolar protein B), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | AAAGAAGCTTTCCTTTTCAGTCAGTCACAAGGCTGTGAGGACTGAAGCCTGGAGCCGGCAGGGACCTGGGTACCAGCACATTTGAGAGAATGGAGCCAGCATATAGAGAGGCCCCCAGACACTACAAAGAGAGAGGCGTAACAGTACTAGACTCCCTGGTTCTAGTCTGTCCCTTCCCCACTCCAAACATACCAGCTACTTAACCACCTGGTGGGGAGAAAAAAAATGACTTAGGCTTCTGTCACTTCCAACTAGGTGAGTCTAACTTCACCTCTCTGAAACTCACTTTCCTTATCTGCAAAATAGGGAAAATAAAACAA... | AAAGAAGCTTTCCTTTTCAGTCAGTCACAAGGCTGTGAGGACTGAAGCCTGGAGCCGGCAGGGACCTGGGTACCAGCACATTTGAGAGAATGGAGCCAGCATATAGAGAGGCCCCCAGACACTACAAAGAGAGAGGCGTAACAGTACTAGACTCCCTGGTTCTAGTCTGTCCCTTCCCCACTCCAAACATACCAGCTACTTAACCACCTGGTGGGGAGAAAAAAAATGACTTAGGCTTCTGTCACTTCCAACTAGGTGAGTCTAACTTCACCTCTCTGAAACTCACTTTCCTTATCTGCAAAATAGGGAAAATAAAACAA... |
Task1_train_18120 | A variant was discovered on Chromosome 12, affecting POC1B (POC1 centriolar protein B). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Cone-rod dystrophy 20 | GACTGAAGCCTGGAGCCGGCAGGGACCTGGGTACCAGCACATTTGAGAGAATGGAGCCAGCATATAGAGAGGCCCCCAGACACTACAAAGAGAGAGGCGTAACAGTACTAGACTCCCTGGTTCTAGTCTGTCCCTTCCCCACTCCAAACATACCAGCTACTTAACCACCTGGTGGGGAGAAAAAAAATGACTTAGGCTTCTGTCACTTCCAACTAGGTGAGTCTAACTTCACCTCTCTGAAACTCACTTTCCTTATCTGCAAAATAGGGAAAATAAAACAATCCTTCCCGCCCAGGCAGTTTTTGTTGTTGTTGTTGTTT... | GACTGAAGCCTGGAGCCGGCAGGGACCTGGGTACCAGCACATTTGAGAGAATGGAGCCAGCATATAGAGAGGCCCCCAGACACTACAAAGAGAGAGGCGTAACAGTACTAGACTCCCTGGTTCTAGTCTGTCCCTTCCCCACTCCAAACATACCAGCTACTTAACCACCTGGTGGGGAGAAAAAAAATGACTTAGGCTTCTGTCACTTCCAACTAGGTGAGTCTAACTTCACCTCTCTGAAACTCACTTTCCTTATCTGCAAAATAGGGAAAATAAAACAATCCTTCCCGCCCAGGCAGTTTTTGTTGTTGTTGTTGTTT... |
Task1_train_18121 | The variant affects gene ATP2B1 (ATPase plasma membrane Ca2+ transporting 1), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | CCTGTAATTCTAGCACTTTTGGAGGCTGAGGTGAGAGGACTGCTTGAGCCCAGGAGTTCAAGACCAGCCTAGGCAACATAGCAAGACCCTGTCTTAATTAAAAAATAAATAATTTTTTAAAAAAAGAATCAATTAACAATATTCACCCTCCTGTGAGTCTGACAGGCCTCTCTTTGATATGGCAGTTAACTAGTTCCCAAATATTAAAATCAAAAATAATTTTGGTAGTTAACATTTTAAAACCTTAAAGTTACAATTCCTTTCTTTTTAGCTCTACTTTATTCAAATTCAAGTCATTTTCACTTCTCGGTTCCACTATT... | CCTGTAATTCTAGCACTTTTGGAGGCTGAGGTGAGAGGACTGCTTGAGCCCAGGAGTTCAAGACCAGCCTAGGCAACATAGCAAGACCCTGTCTTAATTAAAAAATAAATAATTTTTTAAAAAAAGAATCAATTAACAATATTCACCCTCCTGTGAGTCTGACAGGCCTCTCTTTGATATGGCAGTTAACTAGTTCCCAAATATTAAAATCAAAAATAATTTTGGTAGTTAACATTTTAAAACCTTAAAGTTACAATTCCTTTCTTTTTAGCTCTACTTTATTCAAATTCAAGTCATTTTCACTTCTCGGTTCCACTATT... |
Task1_train_18122 | The gene KERA (keratocan), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | TCGCAAGGATTAAATAGTAGTTCTCAAATCGTGAGCCAGCAACATCAATACTATTAATACCTGGGGAGTAAACTGTGAGGCCCAACCTCTGACCCAGCAAGTCAGAAATTCTGGGGGTAGGAAACAGCAACCTGGGTTTATAAGATCTCCAGGTGATTCTGATGCACACTCAGATTTGAGAACGATAGAAAATTAGAAACCTATGAGAAAACACTTTGATAAAACTCTAAAATGTGGGTCTATACTACACACATAATACTCCATAAGCTAAAGTCTTATACTTCTCAACTGTGTTTTAAATACTGCTGCCTCACTCCTAA... | TCGCAAGGATTAAATAGTAGTTCTCAAATCGTGAGCCAGCAACATCAATACTATTAATACCTGGGGAGTAAACTGTGAGGCCCAACCTCTGACCCAGCAAGTCAGAAATTCTGGGGGTAGGAAACAGCAACCTGGGTTTATAAGATCTCCAGGTGATTCTGATGCACACTCAGATTTGAGAACGATAGAAAATTAGAAACCTATGAGAAAACACTTTGATAAAACTCTAAAATGTGGGTCTATACTACACACATAATACTCCATAAGCTAAAGTCTTATACTTCTCAACTGTGTTTTAAATACTGCTGCCTCACTCCTAA... |
Task1_train_18123 | Given this context: Chromosome 12, gene KERA (keratocan) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Cornea plana 2 | GCAAGTCAGAAATTCTGGGGGTAGGAAACAGCAACCTGGGTTTATAAGATCTCCAGGTGATTCTGATGCACACTCAGATTTGAGAACGATAGAAAATTAGAAACCTATGAGAAAACACTTTGATAAAACTCTAAAATGTGGGTCTATACTACACACATAATACTCCATAAGCTAAAGTCTTATACTTCTCAACTGTGTTTTAAATACTGCTGCCTCACTCCTAAACACCCTAATTCACAAATGCTCAGGATGAAATGCATAATTTGTAAGCAAGGGCTCTATGTGGAGTCACTTGAAGTTTACTTCCCACATCAATTGTC... | GCAAGTCAGAAATTCTGGGGGTAGGAAACAGCAACCTGGGTTTATAAGATCTCCAGGTGATTCTGATGCACACTCAGATTTGAGAACGATAGAAAATTAGAAACCTATGAGAAAACACTTTGATAAAACTCTAAAATGTGGGTCTATACTACACACATAATACTCCATAAGCTAAAGTCTTATACTTCTCAACTGTGTTTTAAATACTGCTGCCTCACTCCTAAACACCCTAATTCACAAATGCTCAGGATGAAATGCATAATTTGTAAGCAAGGGCTCTATGTGGAGTCACTTGAAGTTTACTTCCCACATCAATTGTC... |
Task1_train_18124 | A sequence alteration has been identified in KERA (keratocan) on Chromosome 12. Is it disease-inducing or harmless? | Pathogenic; Cornea plana 2 | GGGCTTTTAAGGAATGTACCTGTAATATACCTGTAGAAGCACAGAACACTCGTCAGGAAAAATTATGTATTTAGGTCAATATTGTTGTTGTTCTATTTGATTCAGCTAAACAGATTCATCTCTTAACATTTTTTTTCTGTTGCATCTTTTGTTTTTGACTACAGGATTAAACAATACATTTCATCACCATGGAAAAATAACCGCTATGATGGCAGGCTGCCATTTAATTCCTGGATTGTAGACTCAAGTACACTGTTATTTAACTCCCCCCACCAAAAAAACAAAAATTCTTAAATAACTGAGCAGTTCCCAGTGGAAAA... | GGGCTTTTAAGGAATGTACCTGTAATATACCTGTAGAAGCACAGAACACTCGTCAGGAAAAATTATGTATTTAGGTCAATATTGTTGTTGTTCTATTTGATTCAGCTAAACAGATTCATCTCTTAACATTTTTTTTCTGTTGCATCTTTTGTTTTTGACTACAGGATTAAACAATACATTTCATCACCATGGAAAAATAACCGCTATGATGGCAGGCTGCCATTTAATTCCTGGATTGTAGACTCAAGTACACTGTTATTTAACTCCCCCCACCAAAAAAACAAAAATTCTTAAATAACTGAGCAGTTCCCAGTGGAAAA... |
Task1_train_18125 | Consider a variant on Chromosome 12 in gene CRADD (CASP2 and RIPK1 domain containing adaptor with death domain). Determine its clinical classification and disease relevance. | Pathogenic; Intellectual disability | ACAATCAGCAATCTTATCTAGGTAGTCATCCATGGATGTTCAGCTCAGCCCTTCTCCAGCCTTTCCAATGATTTCGAATGTCCCCAATTCCCCCTAACGAATCCCTTTCTGACTAGGAGTAACTAGCTGAGTGCTGCAATGAAATCCTGACTGACAGATTTGTAAACTCTTTGCGGGCAGGAACCCTTGATATAAATAAATGACCTTGCATTTTAATGGAGGGAAGCAGAAGGATAAACAAATGAATAAGTGAAAAGTTTTAATAAGATGGTGATGCGTAAAAAATAAAGCTGGTTAATGGGGAGTGCAGGAAATGAGCG... | ACAATCAGCAATCTTATCTAGGTAGTCATCCATGGATGTTCAGCTCAGCCCTTCTCCAGCCTTTCCAATGATTTCGAATGTCCCCAATTCCCCCTAACGAATCCCTTTCTGACTAGGAGTAACTAGCTGAGTGCTGCAATGAAATCCTGACTGACAGATTTGTAAACTCTTTGCGGGCAGGAACCCTTGATATAAATAAATGACCTTGCATTTTAATGGAGGGAAGCAGAAGGATAAACAAATGAATAAGTGAAAAGTTTTAATAAGATGGTGATGCGTAAAAAATAAAGCTGGTTAATGGGGAGTGCAGGAAATGAGCG... |
Task1_train_18126 | Gene CRADD (CASP2 and RIPK1 domain containing adaptor with death domain), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Intellectual disability, moderate | ACAATCAGCAATCTTATCTAGGTAGTCATCCATGGATGTTCAGCTCAGCCCTTCTCCAGCCTTTCCAATGATTTCGAATGTCCCCAATTCCCCCTAACGAATCCCTTTCTGACTAGGAGTAACTAGCTGAGTGCTGCAATGAAATCCTGACTGACAGATTTGTAAACTCTTTGCGGGCAGGAACCCTTGATATAAATAAATGACCTTGCATTTTAATGGAGGGAAGCAGAAGGATAAACAAATGAATAAGTGAAAAGTTTTAATAAGATGGTGATGCGTAAAAAATAAAGCTGGTTAATGGGGAGTGCAGGAAATGAGCG... | ACAATCAGCAATCTTATCTAGGTAGTCATCCATGGATGTTCAGCTCAGCCCTTCTCCAGCCTTTCCAATGATTTCGAATGTCCCCAATTCCCCCTAACGAATCCCTTTCTGACTAGGAGTAACTAGCTGAGTGCTGCAATGAAATCCTGACTGACAGATTTGTAAACTCTTTGCGGGCAGGAACCCTTGATATAAATAAATGACCTTGCATTTTAATGGAGGGAAGCAGAAGGATAAACAAATGAATAAGTGAAAAGTTTTAATAAGATGGTGATGCGTAAAAAATAAAGCTGGTTAATGGGGAGTGCAGGAAATGAGCG... |
Task1_train_18127 | A genetic alteration is present in CRADD (CASP2 and RIPK1 domain containing adaptor with death domain) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Intellectual disability, autosomal recessive 34 | GATTTCTTTTCTTCTTTGCGCTGTTTTCTGTTGCTTTATTTTTTTTTTAATGAGCCTATGTTTTTATACAAGCCGTAAAATCATTGCTGTTAATCTCAACTATTGATCAGTAGTGTCATCAGTATTCTAATTGCGTCATAGTCATTGTTTTTTAAATTGTAGTGTTGACAAACACCAGAAAGAGCCCTTGACAATATTTTTGCAACTCATCTCTAAGGTGCTGGCCGCTGCCCAGAGGCCAAAGACATGGGCTGTGGAAAACATCAGCTCTTGTAATAAGGTGCCTTTGCCTTCTTATTGAATCATAAATCAAAACACAA... | GATTTCTTTTCTTCTTTGCGCTGTTTTCTGTTGCTTTATTTTTTTTTTAATGAGCCTATGTTTTTATACAAGCCGTAAAATCATTGCTGTTAATCTCAACTATTGATCAGTAGTGTCATCAGTATTCTAATTGCGTCATAGTCATTGTTTTTTAAATTGTAGTGTTGACAAACACCAGAAAGAGCCCTTGACAATATTTTTGCAACTCATCTCTAAGGTGCTGGCCGCTGCCCAGAGGCCAAAGACATGGGCTGTGGAAAACATCAGCTCTTGTAATAAGGTGCCTTTGCCTTCTTATTGAATCATAAATCAAAACACAA... |
Task1_train_18128 | A mutation found in CRADD (CASP2 and RIPK1 domain containing adaptor with death domain) on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Intellectual disability, autosomal recessive 34 | GCGCTGTTTTCTGTTGCTTTATTTTTTTTTTAATGAGCCTATGTTTTTATACAAGCCGTAAAATCATTGCTGTTAATCTCAACTATTGATCAGTAGTGTCATCAGTATTCTAATTGCGTCATAGTCATTGTTTTTTAAATTGTAGTGTTGACAAACACCAGAAAGAGCCCTTGACAATATTTTTGCAACTCATCTCTAAGGTGCTGGCCGCTGCCCAGAGGCCAAAGACATGGGCTGTGGAAAACATCAGCTCTTGTAATAAGGTGCCTTTGCCTTCTTATTGAATCATAAATCAAAACACAATAGTGGACTGATGAGCA... | GCGCTGTTTTCTGTTGCTTTATTTTTTTTTTAATGAGCCTATGTTTTTATACAAGCCGTAAAATCATTGCTGTTAATCTCAACTATTGATCAGTAGTGTCATCAGTATTCTAATTGCGTCATAGTCATTGTTTTTTAAATTGTAGTGTTGACAAACACCAGAAAGAGCCCTTGACAATATTTTTGCAACTCATCTCTAAGGTGCTGGCCGCTGCCCAGAGGCCAAAGACATGGGCTGTGGAAAACATCAGCTCTTGTAATAAGGTGCCTTTGCCTTCTTATTGAATCATAAATCAAAACACAATAGTGGACTGATGAGCA... |
Task1_train_18129 | Given this context: Chromosome 12, gene CRADD (CASP2 and RIPK1 domain containing adaptor with death domain) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Intellectual disability | CGCTGTTTTCTGTTGCTTTATTTTTTTTTTAATGAGCCTATGTTTTTATACAAGCCGTAAAATCATTGCTGTTAATCTCAACTATTGATCAGTAGTGTCATCAGTATTCTAATTGCGTCATAGTCATTGTTTTTTAAATTGTAGTGTTGACAAACACCAGAAAGAGCCCTTGACAATATTTTTGCAACTCATCTCTAAGGTGCTGGCCGCTGCCCAGAGGCCAAAGACATGGGCTGTGGAAAACATCAGCTCTTGTAATAAGGTGCCTTTGCCTTCTTATTGAATCATAAATCAAAACACAATAGTGGACTGATGAGCAT... | CGCTGTTTTCTGTTGCTTTATTTTTTTTTTAATGAGCCTATGTTTTTATACAAGCCGTAAAATCATTGCTGTTAATCTCAACTATTGATCAGTAGTGTCATCAGTATTCTAATTGCGTCATAGTCATTGTTTTTTAAATTGTAGTGTTGACAAACACCAGAAAGAGCCCTTGACAATATTTTTGCAACTCATCTCTAAGGTGCTGGCCGCTGCCCAGAGGCCAAAGACATGGGCTGTGGAAAACATCAGCTCTTGTAATAAGGTGCCTTTGCCTTCTTATTGAATCATAAATCAAAACACAATAGTGGACTGATGAGCAT... |
Task1_train_18130 | Here is a mutation in CEP83 (centrosomal protein 83) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Nephronophthisis 18 | GTCTCAGCCTCCCGAGTAGCTGGGGCTACAGGCGCCCGCCACTATGCCTGGCTAATTTTTTTGTATTTTTTCAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCAGAGATCACTTTAATAAGAACCACTTGCCTTTTTCTGGGCAATTGCAGCTCGCTGCAGTTTCTCCTTAGCTTGATTGTACTTTTCTTCTCTGTCTGTGATACGCTCATGAAGCTTATGCTTTTCTTC... | GTCTCAGCCTCCCGAGTAGCTGGGGCTACAGGCGCCCGCCACTATGCCTGGCTAATTTTTTTGTATTTTTTCAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCAGAGATCACTTTAATAAGAACCACTTGCCTTTTTCTGGGCAATTGCAGCTCGCTGCAGTTTCTCCTTAGCTTGATTGTACTTTTCTTCTCTGTCTGTGATACGCTCATGAAGCTTATGCTTTTCTTC... |
Task1_train_18131 | Given a variant located on Chromosome 12 and affecting NDUFA12 (NADH:ubiquinone oxidoreductase subunit A12), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 23 | GAGCCCAGAAAGTTGAGGCTGTAGTGAGCCATGATCGAGTCACTGCACTCTAGACTGGGTGACAGAGCGAGACCCTGTCTCAACATTAAATAAATAAATAAATTTTTAAAATATAATAAAACAATGCTGTGATGTATGTTGGTTTGCAAGAATATTTGTAGAATTAATTCTTTTTTGAGATAAGAGTCTCGCTCTGTTGCCAGACTGGAGTAGAGTGGCGGGATCTGGGCTCACTGCAACTTCCGACTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCTCAGGTAGCTGGGATTACAGGCACACGCCACCACATCCA... | GAGCCCAGAAAGTTGAGGCTGTAGTGAGCCATGATCGAGTCACTGCACTCTAGACTGGGTGACAGAGCGAGACCCTGTCTCAACATTAAATAAATAAATAAATTTTTAAAATATAATAAAACAATGCTGTGATGTATGTTGGTTTGCAAGAATATTTGTAGAATTAATTCTTTTTTGAGATAAGAGTCTCGCTCTGTTGCCAGACTGGAGTAGAGTGGCGGGATCTGGGCTCACTGCAACTTCCGACTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCTCAGGTAGCTGGGATTACAGGCACACGCCACCACATCCA... |
Task1_train_18132 | Given this context: Chromosome 12, gene LOC130008523, SLC25A3 (ATAC-STARR-seq lymphoblastoid active region 6847| solute carrier family 25 member 3) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Cardiomyopathy-hypotonia-lactic acidosis syndrome | CCCCTCTCAAAAAATATAGACCCGGAACGCGCGCCTGCGCAGAACGAATCCTCCCGCGCACAAGCCGGGCGGAAGAGCTGGGGCGGGCAGGGGCGGGAATAAGGTTGCTAGGAGAACGCGATGACGCTACGGGCTCGGCGCTCTTCTCCACCAATGGGCGACGCGTACTTGCAGTGGCGCGCTGTGTGCGTCACGCCGACGACGCGCGAAGGGCACACATCTTAGGACCCGGAGGACGTCCGGCCTCTGTGAGCCGCAACCTTTCCAAGGGAGTGGTTGTGTGATCGCCATCTTAGGGAGTGAGTGTGGCCGGGCCTTCT... | CCCCTCTCAAAAAATATAGACCCGGAACGCGCGCCTGCGCAGAACGAATCCTCCCGCGCACAAGCCGGGCGGAAGAGCTGGGGCGGGCAGGGGCGGGAATAAGGTTGCTAGGAGAACGCGATGACGCTACGGGCTCGGCGCTCTTCTCCACCAATGGGCGACGCGTACTTGCAGTGGCGCGCTGTGTGCGTCACGCCGACGACGCGCGAAGGGCACACATCTTAGGACCCGGAGGACGTCCGGCCTCTGTGAGCCGCAACCTTTCCAAGGGAGTGGTTGTGTGATCGCCATCTTAGGGAGTGAGTGTGGCCGGGCCTTCT... |
Task1_train_18133 | Gene SLC25A3 (solute carrier family 25 member 3) on Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Cardiomyopathy-hypotonia-lactic acidosis syndrome | TTGTGTTTAGTTTGTTTAGTGTTCACAAAACTTTATGCTATAAGCTACTTAAAGAACTAGCATATGTTAGGAATACAGTTATATCTATTATCTAGACAGTAGCTTTTAAAAAGTAGGAGGTGGGCCAAGCATGGTCGCCCACACCTGGAATGCCAGCATTTTGGGTAGCCGAAGCAGGTGGGTCACTTGAGGTCAGGAGTTCGAGATCAGAACTCAATCTAGCCAACATGGTGAAACCTCATCTCTGCTAAAAATACAAAAATTAGCTGGGCATGGTGGCGTGCCTGTAGTCGCAGCTACTCGGGAGGCTGAGGCAGGAG... | TTGTGTTTAGTTTGTTTAGTGTTCACAAAACTTTATGCTATAAGCTACTTAAAGAACTAGCATATGTTAGGAATACAGTTATATCTATTATCTAGACAGTAGCTTTTAAAAAGTAGGAGGTGGGCCAAGCATGGTCGCCCACACCTGGAATGCCAGCATTTTGGGTAGCCGAAGCAGGTGGGTCACTTGAGGTCAGGAGTTCGAGATCAGAACTCAATCTAGCCAACATGGTGAAACCTCATCTCTGCTAAAAATACAAAAATTAGCTGGGCATGGTGGCGTGCCTGTAGTCGCAGCTACTCGGGAGGCTGAGGCAGGAG... |
Task1_train_18134 | Consider a variant on Chromosome 12 in gene MYBPC1 (myosin binding protein C1). Determine its clinical classification and disease relevance. | Pathogenic; Arthrogryposis, distal, type 1B | GGATCTGGCAAATTATTACCAATATTCCAATTTCAGGACAATTTTCTTAAGCTTTTCGATTTTCTCATGTTAATAAAGGATGTAGCTGTTATTTCAGTGAGATGAAGATAATGCTTGTGTCTTGAGTTTTTAAGAGGCACATTTTGCTAATGGTGTTGTCTAGTCCTTCCCATCAAGATTATTGGAGAGACCAGTGACCTTTCACTTCCTTCTATTTTCCAGGAGTTCTGCCTCAATGTCCCCCAAACCCACTGGGCAAAAAGACTTACATGGCAATGTAAAATGGAAGTTAGATATTCAGATGTCATCCTTGCCTAATG... | GGATCTGGCAAATTATTACCAATATTCCAATTTCAGGACAATTTTCTTAAGCTTTTCGATTTTCTCATGTTAATAAAGGATGTAGCTGTTATTTCAGTGAGATGAAGATAATGCTTGTGTCTTGAGTTTTTAAGAGGCACATTTTGCTAATGGTGTTGTCTAGTCCTTCCCATCAAGATTATTGGAGAGACCAGTGACCTTTCACTTCCTTCTATTTTCCAGGAGTTCTGCCTCAATGTCCCCCAAACCCACTGGGCAAAAAGACTTACATGGCAATGTAAAATGGAAGTTAGATATTCAGATGTCATCCTTGCCTAATG... |
Task1_train_18135 | This variant affects gene MYBPC1 (myosin binding protein C1) located on Chromosome 12. Evaluate its biological effect and specify any disease association. | Pathogenic; Myopathy, congenital, with tremor | CAGGACAATTTTCTTAAGCTTTTCGATTTTCTCATGTTAATAAAGGATGTAGCTGTTATTTCAGTGAGATGAAGATAATGCTTGTGTCTTGAGTTTTTAAGAGGCACATTTTGCTAATGGTGTTGTCTAGTCCTTCCCATCAAGATTATTGGAGAGACCAGTGACCTTTCACTTCCTTCTATTTTCCAGGAGTTCTGCCTCAATGTCCCCCAAACCCACTGGGCAAAAAGACTTACATGGCAATGTAAAATGGAAGTTAGATATTCAGATGTCATCCTTGCCTAATGCCACCCTAAACTCTATATTAATATCTATAATCT... | CAGGACAATTTTCTTAAGCTTTTCGATTTTCTCATGTTAATAAAGGATGTAGCTGTTATTTCAGTGAGATGAAGATAATGCTTGTGTCTTGAGTTTTTAAGAGGCACATTTTGCTAATGGTGTTGTCTAGTCCTTCCCATCAAGATTATTGGAGAGACCAGTGACCTTTCACTTCCTTCTATTTTCCAGGAGTTCTGCCTCAATGTCCCCCAAACCCACTGGGCAAAAAGACTTACATGGCAATGTAAAATGGAAGTTAGATATTCAGATGTCATCCTTGCCTAATGCCACCCTAAACTCTATATTAATATCTATAATCT... |
Task1_train_18136 | The gene MYBPC1 (myosin binding protein C1) is located on Chromosome 12, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Myopathy, congenital, with tremor | GACAATTTTCTTAAGCTTTTCGATTTTCTCATGTTAATAAAGGATGTAGCTGTTATTTCAGTGAGATGAAGATAATGCTTGTGTCTTGAGTTTTTAAGAGGCACATTTTGCTAATGGTGTTGTCTAGTCCTTCCCATCAAGATTATTGGAGAGACCAGTGACCTTTCACTTCCTTCTATTTTCCAGGAGTTCTGCCTCAATGTCCCCCAAACCCACTGGGCAAAAAGACTTACATGGCAATGTAAAATGGAAGTTAGATATTCAGATGTCATCCTTGCCTAATGCCACCCTAAACTCTATATTAATATCTATAATCTCCT... | GACAATTTTCTTAAGCTTTTCGATTTTCTCATGTTAATAAAGGATGTAGCTGTTATTTCAGTGAGATGAAGATAATGCTTGTGTCTTGAGTTTTTAAGAGGCACATTTTGCTAATGGTGTTGTCTAGTCCTTCCCATCAAGATTATTGGAGAGACCAGTGACCTTTCACTTCCTTCTATTTTCCAGGAGTTCTGCCTCAATGTCCCCCAAACCCACTGGGCAAAAAGACTTACATGGCAATGTAAAATGGAAGTTAGATATTCAGATGTCATCCTTGCCTAATGCCACCCTAAACTCTATATTAATATCTATAATCTCCT... |
Task1_train_18137 | The variant affects gene GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Mucolipidosis type II | CACTTTGGGATGCTAAGGCAGGCGTATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCCAAGATAGCGCCACTGCACTCCGGCCTGGGTGAAAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGATTACTTTGTGAAAAAGAGCCCTGAAAATAAAGCTTAAAAAAAAAAAAAAAG... | CACTTTGGGATGCTAAGGCAGGCGTATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCCAAGATAGCGCCACTGCACTCCGGCCTGGGTGAAAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGATTACTTTGTGAAAAAGAGCCCTGAAAATAAAGCTTAAAAAAAAAAAAAAAG... |
Task1_train_18138 | The variant affects gene GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Pseudo-Hurler polydystrophy | CACTTTGGGATGCTAAGGCAGGCGTATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCCAAGATAGCGCCACTGCACTCCGGCCTGGGTGAAAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGATTACTTTGTGAAAAAGAGCCCTGAAAATAAAGCTTAAAAAAAAAAAAAAAG... | CACTTTGGGATGCTAAGGCAGGCGTATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCCAAGATAGCGCCACTGCACTCCGGCCTGGGTGAAAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGATTACTTTGTGAAAAAGAGCCCTGAAAATAAAGCTTAAAAAAAAAAAAAAAG... |
Task1_train_18139 | This genomic variant is located on Chromosome 12, within the GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Pseudo-Hurler polydystrophy | TATAATGCTTTTGTAAATTTAAAAAAAAAAAAAAAAAAAAAGGAAAGAGGCCAGAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTTAAGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAAAATTGGCCAGGCATGCTGGCACATGCCTGTAATCCCAGCCACTCAGGAGGCTGAGACAGGAGAATCTCTTGAACCTGGGAGGCAAAGACTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCTTGGGAAAA... | TATAATGCTTTTGTAAATTTAAAAAAAAAAAAAAAAAAAAAGGAAAGAGGCCAGAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTTAAGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAAAATTGGCCAGGCATGCTGGCACATGCCTGTAATCCCAGCCACTCAGGAGGCTGAGACAGGAGAATCTCTTGAACCTGGGAGGCAAAGACTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCTTGGGAAAA... |
Task1_train_18140 | This variant lies on Chromosome 12 and affects the gene GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | TAGTTCCATGGCCGGCACAGGGAAGTGCTGAATAAATGGTAGCTATAATGATATTATCATGAGATTATTTACTCTTCCTGAGCATGAGAAAGAATGAGGCTGGATGTTACTTACGTCGAGAAGATCTTGGAAATACTTTTTTTTCTCCCATGGCAAAAAGCCCAAGTAACTATCTGTGTAATGCTGCAGCTTTCTTCCAAGTAACACTTCAGTAACGCCTATGTGATTTTCAGCATTTTCCTCCATTCTACTGTTCTCTTTTTCTTTCCCTGTGATTTTCTTTTCTTTTGTCATCTGGCTTTCCAGTGGAACAATCAGAG... | TAGTTCCATGGCCGGCACAGGGAAGTGCTGAATAAATGGTAGCTATAATGATATTATCATGAGATTATTTACTCTTCCTGAGCATGAGAAAGAATGAGGCTGGATGTTACTTACGTCGAGAAGATCTTGGAAATACTTTTTTTTCTCCCATGGCAAAAAGCCCAAGTAACTATCTGTGTAATGCTGCAGCTTTCTTCCAAGTAACACTTCAGTAACGCCTATGTGATTTTCAGCATTTTCCTCCATTCTACTGTTCTCTTTTTCTTTCCCTGTGATTTTCTTTTCTTTTGTCATCTGGCTTTCCAGTGGAACAATCAGAG... |
Task1_train_18141 | This mutation occurs in GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta) on Chromosome 12. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Pseudo-Hurler polydystrophy | CAGAGCAATCCCCACCATCCCAATCGCAGGCTGAATTATTACAAGCCTTGTCACAATAGCCATCCTTAATCCAGGAACCTGGGCAGCCCTCGGCACAGTTTGGCACAGGCCATGTCAAATAAACCTACGATAAAACCAAAGAGAAAATAAAATGACTTCTGGCTTCTGATACATTTTATTCTTGAGTTAAGATTCCCTTTATAAAAAGAAATTAAGTCTCTAGAAAGATTAAAATTTTCAAAGGGCTCAGCGTTCACACTCACAAGTGCTTTAAGTTTGCCTGTACCTACAGTCATTGTTTAGATCCTGCTGCGTTGACC... | CAGAGCAATCCCCACCATCCCAATCGCAGGCTGAATTATTACAAGCCTTGTCACAATAGCCATCCTTAATCCAGGAACCTGGGCAGCCCTCGGCACAGTTTGGCACAGGCCATGTCAAATAAACCTACGATAAAACCAAAGAGAAAATAAAATGACTTCTGGCTTCTGATACATTTTATTCTTGAGTTAAGATTCCCTTTATAAAAAGAAATTAAGTCTCTAGAAAGATTAAAATTTTCAAAGGGCTCAGCGTTCACACTCACAAGTGCTTTAAGTTTGCCTGTACCTACAGTCATTGTTTAGATCCTGCTGCGTTGACC... |
Task1_train_18142 | Gene GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Mucolipidosis type II | CACCATCCCAATCGCAGGCTGAATTATTACAAGCCTTGTCACAATAGCCATCCTTAATCCAGGAACCTGGGCAGCCCTCGGCACAGTTTGGCACAGGCCATGTCAAATAAACCTACGATAAAACCAAAGAGAAAATAAAATGACTTCTGGCTTCTGATACATTTTATTCTTGAGTTAAGATTCCCTTTATAAAAAGAAATTAAGTCTCTAGAAAGATTAAAATTTTCAAAGGGCTCAGCGTTCACACTCACAAGTGCTTTAAGTTTGCCTGTACCTACAGTCATTGTTTAGATCCTGCTGCGTTGACCGTTCTTACTGAG... | CACCATCCCAATCGCAGGCTGAATTATTACAAGCCTTGTCACAATAGCCATCCTTAATCCAGGAACCTGGGCAGCCCTCGGCACAGTTTGGCACAGGCCATGTCAAATAAACCTACGATAAAACCAAAGAGAAAATAAAATGACTTCTGGCTTCTGATACATTTTATTCTTGAGTTAAGATTCCCTTTATAAAAAGAAATTAAGTCTCTAGAAAGATTAAAATTTTCAAAGGGCTCAGCGTTCACACTCACAAGTGCTTTAAGTTTGCCTGTACCTACAGTCATTGTTTAGATCCTGCTGCGTTGACCGTTCTTACTGAG... |
Task1_train_18143 | The gene GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta) on Chromosome 12 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Pseudo-Hurler polydystrophy | CACCATCCCAATCGCAGGCTGAATTATTACAAGCCTTGTCACAATAGCCATCCTTAATCCAGGAACCTGGGCAGCCCTCGGCACAGTTTGGCACAGGCCATGTCAAATAAACCTACGATAAAACCAAAGAGAAAATAAAATGACTTCTGGCTTCTGATACATTTTATTCTTGAGTTAAGATTCCCTTTATAAAAAGAAATTAAGTCTCTAGAAAGATTAAAATTTTCAAAGGGCTCAGCGTTCACACTCACAAGTGCTTTAAGTTTGCCTGTACCTACAGTCATTGTTTAGATCCTGCTGCGTTGACCGTTCTTACTGAG... | CACCATCCCAATCGCAGGCTGAATTATTACAAGCCTTGTCACAATAGCCATCCTTAATCCAGGAACCTGGGCAGCCCTCGGCACAGTTTGGCACAGGCCATGTCAAATAAACCTACGATAAAACCAAAGAGAAAATAAAATGACTTCTGGCTTCTGATACATTTTATTCTTGAGTTAAGATTCCCTTTATAAAAAGAAATTAAGTCTCTAGAAAGATTAAAATTTTCAAAGGGCTCAGCGTTCACACTCACAAGTGCTTTAAGTTTGCCTGTACCTACAGTCATTGTTTAGATCCTGCTGCGTTGACCGTTCTTACTGAG... |
Task1_train_18144 | Consider a variant on Chromosome 12 in gene GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta). Determine its clinical classification and disease relevance. | Pathogenic; Mucolipidosis type II | CACCATCCCAATCGCAGGCTGAATTATTACAAGCCTTGTCACAATAGCCATCCTTAATCCAGGAACCTGGGCAGCCCTCGGCACAGTTTGGCACAGGCCATGTCAAATAAACCTACGATAAAACCAAAGAGAAAATAAAATGACTTCTGGCTTCTGATACATTTTATTCTTGAGTTAAGATTCCCTTTATAAAAAGAAATTAAGTCTCTAGAAAGATTAAAATTTTCAAAGGGCTCAGCGTTCACACTCACAAGTGCTTTAAGTTTGCCTGTACCTACAGTCATTGTTTAGATCCTGCTGCGTTGACCGTTCTTACTGAG... | CACCATCCCAATCGCAGGCTGAATTATTACAAGCCTTGTCACAATAGCCATCCTTAATCCAGGAACCTGGGCAGCCCTCGGCACAGTTTGGCACAGGCCATGTCAAATAAACCTACGATAAAACCAAAGAGAAAATAAAATGACTTCTGGCTTCTGATACATTTTATTCTTGAGTTAAGATTCCCTTTATAAAAAGAAATTAAGTCTCTAGAAAGATTAAAATTTTCAAAGGGCTCAGCGTTCACACTCACAAGTGCTTTAAGTTTGCCTGTACCTACAGTCATTGTTTAGATCCTGCTGCGTTGACCGTTCTTACTGAG... |
Task1_train_18145 | Here’s a variant in GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Pseudo-Hurler polydystrophy | CGCAGGCTGAATTATTACAAGCCTTGTCACAATAGCCATCCTTAATCCAGGAACCTGGGCAGCCCTCGGCACAGTTTGGCACAGGCCATGTCAAATAAACCTACGATAAAACCAAAGAGAAAATAAAATGACTTCTGGCTTCTGATACATTTTATTCTTGAGTTAAGATTCCCTTTATAAAAAGAAATTAAGTCTCTAGAAAGATTAAAATTTTCAAAGGGCTCAGCGTTCACACTCACAAGTGCTTTAAGTTTGCCTGTACCTACAGTCATTGTTTAGATCCTGCTGCGTTGACCGTTCTTACTGAGCGTATTTACTTT... | CGCAGGCTGAATTATTACAAGCCTTGTCACAATAGCCATCCTTAATCCAGGAACCTGGGCAGCCCTCGGCACAGTTTGGCACAGGCCATGTCAAATAAACCTACGATAAAACCAAAGAGAAAATAAAATGACTTCTGGCTTCTGATACATTTTATTCTTGAGTTAAGATTCCCTTTATAAAAAGAAATTAAGTCTCTAGAAAGATTAAAATTTTCAAAGGGCTCAGCGTTCACACTCACAAGTGCTTTAAGTTTGCCTGTACCTACAGTCATTGTTTAGATCCTGCTGCGTTGACCGTTCTTACTGAGCGTATTTACTTT... |
Task1_train_18146 | Gene GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Mucolipidosis type II | CGCAGGCTGAATTATTACAAGCCTTGTCACAATAGCCATCCTTAATCCAGGAACCTGGGCAGCCCTCGGCACAGTTTGGCACAGGCCATGTCAAATAAACCTACGATAAAACCAAAGAGAAAATAAAATGACTTCTGGCTTCTGATACATTTTATTCTTGAGTTAAGATTCCCTTTATAAAAAGAAATTAAGTCTCTAGAAAGATTAAAATTTTCAAAGGGCTCAGCGTTCACACTCACAAGTGCTTTAAGTTTGCCTGTACCTACAGTCATTGTTTAGATCCTGCTGCGTTGACCGTTCTTACTGAGCGTATTTACTTT... | CGCAGGCTGAATTATTACAAGCCTTGTCACAATAGCCATCCTTAATCCAGGAACCTGGGCAGCCCTCGGCACAGTTTGGCACAGGCCATGTCAAATAAACCTACGATAAAACCAAAGAGAAAATAAAATGACTTCTGGCTTCTGATACATTTTATTCTTGAGTTAAGATTCCCTTTATAAAAAGAAATTAAGTCTCTAGAAAGATTAAAATTTTCAAAGGGCTCAGCGTTCACACTCACAAGTGCTTTAAGTTTGCCTGTACCTACAGTCATTGTTTAGATCCTGCTGCGTTGACCGTTCTTACTGAGCGTATTTACTTT... |
Task1_train_18147 | Located on Chromosome 12, this mutation impacts GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Pseudo-Hurler polydystrophy | CGCAGGCTGAATTATTACAAGCCTTGTCACAATAGCCATCCTTAATCCAGGAACCTGGGCAGCCCTCGGCACAGTTTGGCACAGGCCATGTCAAATAAACCTACGATAAAACCAAAGAGAAAATAAAATGACTTCTGGCTTCTGATACATTTTATTCTTGAGTTAAGATTCCCTTTATAAAAAGAAATTAAGTCTCTAGAAAGATTAAAATTTTCAAAGGGCTCAGCGTTCACACTCACAAGTGCTTTAAGTTTGCCTGTACCTACAGTCATTGTTTAGATCCTGCTGCGTTGACCGTTCTTACTGAGCGTATTTACTTT... | CGCAGGCTGAATTATTACAAGCCTTGTCACAATAGCCATCCTTAATCCAGGAACCTGGGCAGCCCTCGGCACAGTTTGGCACAGGCCATGTCAAATAAACCTACGATAAAACCAAAGAGAAAATAAAATGACTTCTGGCTTCTGATACATTTTATTCTTGAGTTAAGATTCCCTTTATAAAAAGAAATTAAGTCTCTAGAAAGATTAAAATTTTCAAAGGGCTCAGCGTTCACACTCACAAGTGCTTTAAGTTTGCCTGTACCTACAGTCATTGTTTAGATCCTGCTGCGTTGACCGTTCTTACTGAGCGTATTTACTTT... |
Task1_train_18148 | This gene mutation involves GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta) on Chromosome 12. Is it associated with any clinical condition, or is it benign? | Pathogenic; Mucolipidosis type II | TGGCACAGGCCATGTCAAATAAACCTACGATAAAACCAAAGAGAAAATAAAATGACTTCTGGCTTCTGATACATTTTATTCTTGAGTTAAGATTCCCTTTATAAAAAGAAATTAAGTCTCTAGAAAGATTAAAATTTTCAAAGGGCTCAGCGTTCACACTCACAAGTGCTTTAAGTTTGCCTGTACCTACAGTCATTGTTTAGATCCTGCTGCGTTGACCGTTCTTACTGAGCGTATTTACTTTTTTTCCATTACTCAAGGAAAGCAGACAAGGATTCAACTCATGGATTAGTCTCTCATAACATGCTTTGATAATCTAC... | TGGCACAGGCCATGTCAAATAAACCTACGATAAAACCAAAGAGAAAATAAAATGACTTCTGGCTTCTGATACATTTTATTCTTGAGTTAAGATTCCCTTTATAAAAAGAAATTAAGTCTCTAGAAAGATTAAAATTTTCAAAGGGCTCAGCGTTCACACTCACAAGTGCTTTAAGTTTGCCTGTACCTACAGTCATTGTTTAGATCCTGCTGCGTTGACCGTTCTTACTGAGCGTATTTACTTTTTTTCCATTACTCAAGGAAAGCAGACAAGGATTCAACTCATGGATTAGTCTCTCATAACATGCTTTGATAATCTAC... |
Task1_train_18149 | Gene GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta) on Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Pseudo-Hurler polydystrophy | TGGCACAGGCCATGTCAAATAAACCTACGATAAAACCAAAGAGAAAATAAAATGACTTCTGGCTTCTGATACATTTTATTCTTGAGTTAAGATTCCCTTTATAAAAAGAAATTAAGTCTCTAGAAAGATTAAAATTTTCAAAGGGCTCAGCGTTCACACTCACAAGTGCTTTAAGTTTGCCTGTACCTACAGTCATTGTTTAGATCCTGCTGCGTTGACCGTTCTTACTGAGCGTATTTACTTTTTTTCCATTACTCAAGGAAAGCAGACAAGGATTCAACTCATGGATTAGTCTCTCATAACATGCTTTGATAATCTAC... | TGGCACAGGCCATGTCAAATAAACCTACGATAAAACCAAAGAGAAAATAAAATGACTTCTGGCTTCTGATACATTTTATTCTTGAGTTAAGATTCCCTTTATAAAAAGAAATTAAGTCTCTAGAAAGATTAAAATTTTCAAAGGGCTCAGCGTTCACACTCACAAGTGCTTTAAGTTTGCCTGTACCTACAGTCATTGTTTAGATCCTGCTGCGTTGACCGTTCTTACTGAGCGTATTTACTTTTTTTCCATTACTCAAGGAAAGCAGACAAGGATTCAACTCATGGATTAGTCTCTCATAACATGCTTTGATAATCTAC... |
Task1_train_18150 | With a mutation on Chromosome 12 in gene GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Mucolipidosis type II | AGCACCATGCCAGACTTGACTGCAAGTACCAAAGCATGTCAAAGCTGGTGGGAAGTATGCACAGTCACTGCTTTTCTGTAACTATCAGTAGCTCATTAGTGTATTTGTGCATAATCTTGTCTCAAGGCTGAGAGACAATATCCTCTCTCTTCAAGCTTAAGGCCCTGTGATAAATTAACTGGCATAGCATTCTGAGCTGTGCATTCACCTGCTCTCAGAATTAGTGATGGGGTACATGGTTTTTCAAATTTAAAATCATTGAAAAAAAATACACTCCTCTTTAAAAATCTCTGTGCCTTTGCATATTCTAATTGGAATGT... | AGCACCATGCCAGACTTGACTGCAAGTACCAAAGCATGTCAAAGCTGGTGGGAAGTATGCACAGTCACTGCTTTTCTGTAACTATCAGTAGCTCATTAGTGTATTTGTGCATAATCTTGTCTCAAGGCTGAGAGACAATATCCTCTCTCTTCAAGCTTAAGGCCCTGTGATAAATTAACTGGCATAGCATTCTGAGCTGTGCATTCACCTGCTCTCAGAATTAGTGATGGGGTACATGGTTTTTCAAATTTAAAATCATTGAAAAAAAATACACTCCTCTTTAAAAATCTCTGTGCCTTTGCATATTCTAATTGGAATGT... |
Task1_train_18151 | A variant found in Chromosome 12 affects GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Pseudo-Hurler polydystrophy | AGCACCATGCCAGACTTGACTGCAAGTACCAAAGCATGTCAAAGCTGGTGGGAAGTATGCACAGTCACTGCTTTTCTGTAACTATCAGTAGCTCATTAGTGTATTTGTGCATAATCTTGTCTCAAGGCTGAGAGACAATATCCTCTCTCTTCAAGCTTAAGGCCCTGTGATAAATTAACTGGCATAGCATTCTGAGCTGTGCATTCACCTGCTCTCAGAATTAGTGATGGGGTACATGGTTTTTCAAATTTAAAATCATTGAAAAAAAATACACTCCTCTTTAAAAATCTCTGTGCCTTTGCATATTCTAATTGGAATGT... | AGCACCATGCCAGACTTGACTGCAAGTACCAAAGCATGTCAAAGCTGGTGGGAAGTATGCACAGTCACTGCTTTTCTGTAACTATCAGTAGCTCATTAGTGTATTTGTGCATAATCTTGTCTCAAGGCTGAGAGACAATATCCTCTCTCTTCAAGCTTAAGGCCCTGTGATAAATTAACTGGCATAGCATTCTGAGCTGTGCATTCACCTGCTCTCAGAATTAGTGATGGGGTACATGGTTTTTCAAATTTAAAATCATTGAAAAAAAATACACTCCTCTTTAAAAATCTCTGTGCCTTTGCATATTCTAATTGGAATGT... |
Task1_train_18152 | Gene GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta) on Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Pseudo-Hurler polydystrophy | CGTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCATTGCACTCCAGCTTGGGTGACAGTGTGAGACTCCATCTCAAAAAACAAACAAAAAAAAAAGCACAGCTCTGAGCCAGCCTGGCTTGGTTTGAAGCCCAGCTCTGCCACAAATTAGCTGGATTCTAATGCAAATGCATCCATTTCATCACCTATAAAATGGTTATAATAATAGCACCTATCCCACAGGGGTGATGTTGTGAGGATTAAATCAGTTAACATATGTAAAGCAATTAAGAGAGTGCCTGATACCTGTTAAGACCAATATAAGTATTAGC... | CGTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCATTGCACTCCAGCTTGGGTGACAGTGTGAGACTCCATCTCAAAAAACAAACAAAAAAAAAAGCACAGCTCTGAGCCAGCCTGGCTTGGTTTGAAGCCCAGCTCTGCCACAAATTAGCTGGATTCTAATGCAAATGCATCCATTTCATCACCTATAAAATGGTTATAATAATAGCACCTATCCCACAGGGGTGATGTTGTGAGGATTAAATCAGTTAACATATGTAAAGCAATTAAGAGAGTGCCTGATACCTGTTAAGACCAATATAAGTATTAGC... |
Task1_train_18153 | The gene GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta) is located on Chromosome 12, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Mucolipidosis type II | GGTTGCAGTGAGCCGAGATTGCGCCATTGCACTCCAGCTTGGGTGACAGTGTGAGACTCCATCTCAAAAAACAAACAAAAAAAAAAGCACAGCTCTGAGCCAGCCTGGCTTGGTTTGAAGCCCAGCTCTGCCACAAATTAGCTGGATTCTAATGCAAATGCATCCATTTCATCACCTATAAAATGGTTATAATAATAGCACCTATCCCACAGGGGTGATGTTGTGAGGATTAAATCAGTTAACATATGTAAAGCAATTAAGAGAGTGCCTGATACCTGTTAAGACCAATATAAGTATTAGCTATTATTATGATCATTATC... | GGTTGCAGTGAGCCGAGATTGCGCCATTGCACTCCAGCTTGGGTGACAGTGTGAGACTCCATCTCAAAAAACAAACAAAAAAAAAAGCACAGCTCTGAGCCAGCCTGGCTTGGTTTGAAGCCCAGCTCTGCCACAAATTAGCTGGATTCTAATGCAAATGCATCCATTTCATCACCTATAAAATGGTTATAATAATAGCACCTATCCCACAGGGGTGATGTTGTGAGGATTAAATCAGTTAACATATGTAAAGCAATTAAGAGAGTGCCTGATACCTGTTAAGACCAATATAAGTATTAGCTATTATTATGATCATTATC... |
Task1_train_18154 | This variant lies on Chromosome 12 and affects the gene GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Pseudo-Hurler polydystrophy | GGTTGCAGTGAGCCGAGATTGCGCCATTGCACTCCAGCTTGGGTGACAGTGTGAGACTCCATCTCAAAAAACAAACAAAAAAAAAAGCACAGCTCTGAGCCAGCCTGGCTTGGTTTGAAGCCCAGCTCTGCCACAAATTAGCTGGATTCTAATGCAAATGCATCCATTTCATCACCTATAAAATGGTTATAATAATAGCACCTATCCCACAGGGGTGATGTTGTGAGGATTAAATCAGTTAACATATGTAAAGCAATTAAGAGAGTGCCTGATACCTGTTAAGACCAATATAAGTATTAGCTATTATTATGATCATTATC... | GGTTGCAGTGAGCCGAGATTGCGCCATTGCACTCCAGCTTGGGTGACAGTGTGAGACTCCATCTCAAAAAACAAACAAAAAAAAAAGCACAGCTCTGAGCCAGCCTGGCTTGGTTTGAAGCCCAGCTCTGCCACAAATTAGCTGGATTCTAATGCAAATGCATCCATTTCATCACCTATAAAATGGTTATAATAATAGCACCTATCCCACAGGGGTGATGTTGTGAGGATTAAATCAGTTAACATATGTAAAGCAATTAAGAGAGTGCCTGATACCTGTTAAGACCAATATAAGTATTAGCTATTATTATGATCATTATC... |
Task1_train_18155 | This gene mutation involves GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta) on Chromosome 12. Is it associated with any clinical condition, or is it benign? | Pathogenic; Mucolipidosis type II | GTTGCAGTGAGCCGAGATTGCGCCATTGCACTCCAGCTTGGGTGACAGTGTGAGACTCCATCTCAAAAAACAAACAAAAAAAAAAGCACAGCTCTGAGCCAGCCTGGCTTGGTTTGAAGCCCAGCTCTGCCACAAATTAGCTGGATTCTAATGCAAATGCATCCATTTCATCACCTATAAAATGGTTATAATAATAGCACCTATCCCACAGGGGTGATGTTGTGAGGATTAAATCAGTTAACATATGTAAAGCAATTAAGAGAGTGCCTGATACCTGTTAAGACCAATATAAGTATTAGCTATTATTATGATCATTATCA... | GTTGCAGTGAGCCGAGATTGCGCCATTGCACTCCAGCTTGGGTGACAGTGTGAGACTCCATCTCAAAAAACAAACAAAAAAAAAAGCACAGCTCTGAGCCAGCCTGGCTTGGTTTGAAGCCCAGCTCTGCCACAAATTAGCTGGATTCTAATGCAAATGCATCCATTTCATCACCTATAAAATGGTTATAATAATAGCACCTATCCCACAGGGGTGATGTTGTGAGGATTAAATCAGTTAACATATGTAAAGCAATTAAGAGAGTGCCTGATACCTGTTAAGACCAATATAAGTATTAGCTATTATTATGATCATTATCA... |
Task1_train_18156 | Given this context: Chromosome 12, gene GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Pseudo-Hurler polydystrophy | GTTGCAGTGAGCCGAGATTGCGCCATTGCACTCCAGCTTGGGTGACAGTGTGAGACTCCATCTCAAAAAACAAACAAAAAAAAAAGCACAGCTCTGAGCCAGCCTGGCTTGGTTTGAAGCCCAGCTCTGCCACAAATTAGCTGGATTCTAATGCAAATGCATCCATTTCATCACCTATAAAATGGTTATAATAATAGCACCTATCCCACAGGGGTGATGTTGTGAGGATTAAATCAGTTAACATATGTAAAGCAATTAAGAGAGTGCCTGATACCTGTTAAGACCAATATAAGTATTAGCTATTATTATGATCATTATCA... | GTTGCAGTGAGCCGAGATTGCGCCATTGCACTCCAGCTTGGGTGACAGTGTGAGACTCCATCTCAAAAAACAAACAAAAAAAAAAGCACAGCTCTGAGCCAGCCTGGCTTGGTTTGAAGCCCAGCTCTGCCACAAATTAGCTGGATTCTAATGCAAATGCATCCATTTCATCACCTATAAAATGGTTATAATAATAGCACCTATCCCACAGGGGTGATGTTGTGAGGATTAAATCAGTTAACATATGTAAAGCAATTAAGAGAGTGCCTGATACCTGTTAAGACCAATATAAGTATTAGCTATTATTATGATCATTATCA... |
Task1_train_18157 | The gene PAH (phenylalanine hydroxylase), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; PAH-related disorder | TTTATTAAATCCCATAGCTATAGACTGGGCTTTTATATCTGGATAAAAAAGAGCTAAGAACTGAGTAGCACATTACCAAAAATACAAATATTATCTTTCATTCAGTATGTAACTTCCTGTGAAAATCATAACTTAACCGAAACTTTACCTTCAAGCTCATTAAAACATCTTTACTGGACTAAAACTCACTCTTCAATATTGTCAAAAATATTATCTAATATTTAAGTTCCAGAGTCAATAATTAACTTTTCATGTGAAATGAAGAAACATCAGAATAATCCCTTTGCAGGGATTGTTTGGTGTTTAGAGTAAAAGCAGAG... | TTTATTAAATCCCATAGCTATAGACTGGGCTTTTATATCTGGATAAAAAAGAGCTAAGAACTGAGTAGCACATTACCAAAAATACAAATATTATCTTTCATTCAGTATGTAACTTCCTGTGAAAATCATAACTTAACCGAAACTTTACCTTCAAGCTCATTAAAACATCTTTACTGGACTAAAACTCACTCTTCAATATTGTCAAAAATATTATCTAATATTTAAGTTCCAGAGTCAATAATTAACTTTTCATGTGAAATGAAGAAACATCAGAATAATCCCTTTGCAGGGATTGTTTGGTGTTTAGAGTAAAAGCAGAG... |
Task1_train_18158 | This gene mutation involves PAH (phenylalanine hydroxylase) on Chromosome 12. Is it associated with any clinical condition, or is it benign? | Pathogenic; Phenylketonuria | TTTATTAAATCCCATAGCTATAGACTGGGCTTTTATATCTGGATAAAAAAGAGCTAAGAACTGAGTAGCACATTACCAAAAATACAAATATTATCTTTCATTCAGTATGTAACTTCCTGTGAAAATCATAACTTAACCGAAACTTTACCTTCAAGCTCATTAAAACATCTTTACTGGACTAAAACTCACTCTTCAATATTGTCAAAAATATTATCTAATATTTAAGTTCCAGAGTCAATAATTAACTTTTCATGTGAAATGAAGAAACATCAGAATAATCCCTTTGCAGGGATTGTTTGGTGTTTAGAGTAAAAGCAGAG... | TTTATTAAATCCCATAGCTATAGACTGGGCTTTTATATCTGGATAAAAAAGAGCTAAGAACTGAGTAGCACATTACCAAAAATACAAATATTATCTTTCATTCAGTATGTAACTTCCTGTGAAAATCATAACTTAACCGAAACTTTACCTTCAAGCTCATTAAAACATCTTTACTGGACTAAAACTCACTCTTCAATATTGTCAAAAATATTATCTAATATTTAAGTTCCAGAGTCAATAATTAACTTTTCATGTGAAATGAAGAAACATCAGAATAATCCCTTTGCAGGGATTGTTTGGTGTTTAGAGTAAAAGCAGAG... |
Task1_train_18159 | This variant affects gene PAH (phenylalanine hydroxylase) located on Chromosome 12. Evaluate its biological effect and specify any disease association. | Pathogenic; Phenylketonuria | TTATTAAATCCCATAGCTATAGACTGGGCTTTTATATCTGGATAAAAAAGAGCTAAGAACTGAGTAGCACATTACCAAAAATACAAATATTATCTTTCATTCAGTATGTAACTTCCTGTGAAAATCATAACTTAACCGAAACTTTACCTTCAAGCTCATTAAAACATCTTTACTGGACTAAAACTCACTCTTCAATATTGTCAAAAATATTATCTAATATTTAAGTTCCAGAGTCAATAATTAACTTTTCATGTGAAATGAAGAAACATCAGAATAATCCCTTTGCAGGGATTGTTTGGTGTTTAGAGTAAAAGCAGAGA... | TTATTAAATCCCATAGCTATAGACTGGGCTTTTATATCTGGATAAAAAAGAGCTAAGAACTGAGTAGCACATTACCAAAAATACAAATATTATCTTTCATTCAGTATGTAACTTCCTGTGAAAATCATAACTTAACCGAAACTTTACCTTCAAGCTCATTAAAACATCTTTACTGGACTAAAACTCACTCTTCAATATTGTCAAAAATATTATCTAATATTTAAGTTCCAGAGTCAATAATTAACTTTTCATGTGAAATGAAGAAACATCAGAATAATCCCTTTGCAGGGATTGTTTGGTGTTTAGAGTAAAAGCAGAGA... |
Task1_train_18160 | Gene PAH (phenylalanine hydroxylase) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Phenylketonuria | TTCAGTGAACATTTCCTGAATATCTACCAACCAAGCCTTTAGTCAACATCTGCTGCATCATAAATGTCCTCAAAGTGTTTCCCAAAACAGACTTGATAATTAATTGGAAAATGATACTGGAAGTTATGGGGATTAGGTGCAGAGTTTTATTACCTTATACAGCAGTATTTATGATTACAATAAAACATACAAAAATGTTTTTATATTAATATAATACTAAAGAAGTTCAATGCTTGTAACTATTTTAATGGGCTTCTGACTTAAAGAAAATTTACTTAGGTACAATAACAAAGTAGTAATTGGAATCATAGTTAACTAAA... | TTCAGTGAACATTTCCTGAATATCTACCAACCAAGCCTTTAGTCAACATCTGCTGCATCATAAATGTCCTCAAAGTGTTTCCCAAAACAGACTTGATAATTAATTGGAAAATGATACTGGAAGTTATGGGGATTAGGTGCAGAGTTTTATTACCTTATACAGCAGTATTTATGATTACAATAAAACATACAAAAATGTTTTTATATTAATATAATACTAAAGAAGTTCAATGCTTGTAACTATTTTAATGGGCTTCTGACTTAAAGAAAATTTACTTAGGTACAATAACAAAGTAGTAATTGGAATCATAGTTAACTAAA... |
Task1_train_18161 | Here is a mutation in PAH (phenylalanine hydroxylase) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Phenylketonuria | GTGAACATTTCCTGAATATCTACCAACCAAGCCTTTAGTCAACATCTGCTGCATCATAAATGTCCTCAAAGTGTTTCCCAAAACAGACTTGATAATTAATTGGAAAATGATACTGGAAGTTATGGGGATTAGGTGCAGAGTTTTATTACCTTATACAGCAGTATTTATGATTACAATAAAACATACAAAAATGTTTTTATATTAATATAATACTAAAGAAGTTCAATGCTTGTAACTATTTTAATGGGCTTCTGACTTAAAGAAAATTTACTTAGGTACAATAACAAAGTAGTAATTGGAATCATAGTTAACTAAAATAG... | GTGAACATTTCCTGAATATCTACCAACCAAGCCTTTAGTCAACATCTGCTGCATCATAAATGTCCTCAAAGTGTTTCCCAAAACAGACTTGATAATTAATTGGAAAATGATACTGGAAGTTATGGGGATTAGGTGCAGAGTTTTATTACCTTATACAGCAGTATTTATGATTACAATAAAACATACAAAAATGTTTTTATATTAATATAATACTAAAGAAGTTCAATGCTTGTAACTATTTTAATGGGCTTCTGACTTAAAGAAAATTTACTTAGGTACAATAACAAAGTAGTAATTGGAATCATAGTTAACTAAAATAG... |
Task1_train_18162 | A mutation found in PAH (phenylalanine hydroxylase) on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | AACATTTCCTGAATATCTACCAACCAAGCCTTTAGTCAACATCTGCTGCATCATAAATGTCCTCAAAGTGTTTCCCAAAACAGACTTGATAATTAATTGGAAAATGATACTGGAAGTTATGGGGATTAGGTGCAGAGTTTTATTACCTTATACAGCAGTATTTATGATTACAATAAAACATACAAAAATGTTTTTATATTAATATAATACTAAAGAAGTTCAATGCTTGTAACTATTTTAATGGGCTTCTGACTTAAAGAAAATTTACTTAGGTACAATAACAAAGTAGTAATTGGAATCATAGTTAACTAAAATAGAAA... | AACATTTCCTGAATATCTACCAACCAAGCCTTTAGTCAACATCTGCTGCATCATAAATGTCCTCAAAGTGTTTCCCAAAACAGACTTGATAATTAATTGGAAAATGATACTGGAAGTTATGGGGATTAGGTGCAGAGTTTTATTACCTTATACAGCAGTATTTATGATTACAATAAAACATACAAAAATGTTTTTATATTAATATAATACTAAAGAAGTTCAATGCTTGTAACTATTTTAATGGGCTTCTGACTTAAAGAAAATTTACTTAGGTACAATAACAAAGTAGTAATTGGAATCATAGTTAACTAAAATAGAAA... |
Task1_train_18163 | A change on Chromosome 12 affects gene PAH (phenylalanine hydroxylase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Phenylketonuria | TTCCTGAATATCTACCAACCAAGCCTTTAGTCAACATCTGCTGCATCATAAATGTCCTCAAAGTGTTTCCCAAAACAGACTTGATAATTAATTGGAAAATGATACTGGAAGTTATGGGGATTAGGTGCAGAGTTTTATTACCTTATACAGCAGTATTTATGATTACAATAAAACATACAAAAATGTTTTTATATTAATATAATACTAAAGAAGTTCAATGCTTGTAACTATTTTAATGGGCTTCTGACTTAAAGAAAATTTACTTAGGTACAATAACAAAGTAGTAATTGGAATCATAGTTAACTAAAATAGAAAATAAA... | TTCCTGAATATCTACCAACCAAGCCTTTAGTCAACATCTGCTGCATCATAAATGTCCTCAAAGTGTTTCCCAAAACAGACTTGATAATTAATTGGAAAATGATACTGGAAGTTATGGGGATTAGGTGCAGAGTTTTATTACCTTATACAGCAGTATTTATGATTACAATAAAACATACAAAAATGTTTTTATATTAATATAATACTAAAGAAGTTCAATGCTTGTAACTATTTTAATGGGCTTCTGACTTAAAGAAAATTTACTTAGGTACAATAACAAAGTAGTAATTGGAATCATAGTTAACTAAAATAGAAAATAAA... |
Task1_train_18164 | A change on Chromosome 12 affects gene PAH (phenylalanine hydroxylase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Phenylketonuria | TCCTGAATATCTACCAACCAAGCCTTTAGTCAACATCTGCTGCATCATAAATGTCCTCAAAGTGTTTCCCAAAACAGACTTGATAATTAATTGGAAAATGATACTGGAAGTTATGGGGATTAGGTGCAGAGTTTTATTACCTTATACAGCAGTATTTATGATTACAATAAAACATACAAAAATGTTTTTATATTAATATAATACTAAAGAAGTTCAATGCTTGTAACTATTTTAATGGGCTTCTGACTTAAAGAAAATTTACTTAGGTACAATAACAAAGTAGTAATTGGAATCATAGTTAACTAAAATAGAAAATAAAC... | TCCTGAATATCTACCAACCAAGCCTTTAGTCAACATCTGCTGCATCATAAATGTCCTCAAAGTGTTTCCCAAAACAGACTTGATAATTAATTGGAAAATGATACTGGAAGTTATGGGGATTAGGTGCAGAGTTTTATTACCTTATACAGCAGTATTTATGATTACAATAAAACATACAAAAATGTTTTTATATTAATATAATACTAAAGAAGTTCAATGCTTGTAACTATTTTAATGGGCTTCTGACTTAAAGAAAATTTACTTAGGTACAATAACAAAGTAGTAATTGGAATCATAGTTAACTAAAATAGAAAATAAAC... |
Task1_train_18165 | Here’s a variant in PAH (phenylalanine hydroxylase) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Phenylketonuria | TCCTGAATATCTACCAACCAAGCCTTTAGTCAACATCTGCTGCATCATAAATGTCCTCAAAGTGTTTCCCAAAACAGACTTGATAATTAATTGGAAAATGATACTGGAAGTTATGGGGATTAGGTGCAGAGTTTTATTACCTTATACAGCAGTATTTATGATTACAATAAAACATACAAAAATGTTTTTATATTAATATAATACTAAAGAAGTTCAATGCTTGTAACTATTTTAATGGGCTTCTGACTTAAAGAAAATTTACTTAGGTACAATAACAAAGTAGTAATTGGAATCATAGTTAACTAAAATAGAAAATAAAC... | TCCTGAATATCTACCAACCAAGCCTTTAGTCAACATCTGCTGCATCATAAATGTCCTCAAAGTGTTTCCCAAAACAGACTTGATAATTAATTGGAAAATGATACTGGAAGTTATGGGGATTAGGTGCAGAGTTTTATTACCTTATACAGCAGTATTTATGATTACAATAAAACATACAAAAATGTTTTTATATTAATATAATACTAAAGAAGTTCAATGCTTGTAACTATTTTAATGGGCTTCTGACTTAAAGAAAATTTACTTAGGTACAATAACAAAGTAGTAATTGGAATCATAGTTAACTAAAATAGAAAATAAAC... |
Task1_train_18166 | A variant affecting Chromosome 12, within the gene PAH (phenylalanine hydroxylase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Phenylketonuria | CTGAATATCTACCAACCAAGCCTTTAGTCAACATCTGCTGCATCATAAATGTCCTCAAAGTGTTTCCCAAAACAGACTTGATAATTAATTGGAAAATGATACTGGAAGTTATGGGGATTAGGTGCAGAGTTTTATTACCTTATACAGCAGTATTTATGATTACAATAAAACATACAAAAATGTTTTTATATTAATATAATACTAAAGAAGTTCAATGCTTGTAACTATTTTAATGGGCTTCTGACTTAAAGAAAATTTACTTAGGTACAATAACAAAGTAGTAATTGGAATCATAGTTAACTAAAATAGAAAATAAACTT... | CTGAATATCTACCAACCAAGCCTTTAGTCAACATCTGCTGCATCATAAATGTCCTCAAAGTGTTTCCCAAAACAGACTTGATAATTAATTGGAAAATGATACTGGAAGTTATGGGGATTAGGTGCAGAGTTTTATTACCTTATACAGCAGTATTTATGATTACAATAAAACATACAAAAATGTTTTTATATTAATATAATACTAAAGAAGTTCAATGCTTGTAACTATTTTAATGGGCTTCTGACTTAAAGAAAATTTACTTAGGTACAATAACAAAGTAGTAATTGGAATCATAGTTAACTAAAATAGAAAATAAACTT... |
Task1_train_18167 | This sequence change occurs on Chromosome 12, altering PAH (phenylalanine hydroxylase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Phenylketonuria | AATATCTACCAACCAAGCCTTTAGTCAACATCTGCTGCATCATAAATGTCCTCAAAGTGTTTCCCAAAACAGACTTGATAATTAATTGGAAAATGATACTGGAAGTTATGGGGATTAGGTGCAGAGTTTTATTACCTTATACAGCAGTATTTATGATTACAATAAAACATACAAAAATGTTTTTATATTAATATAATACTAAAGAAGTTCAATGCTTGTAACTATTTTAATGGGCTTCTGACTTAAAGAAAATTTACTTAGGTACAATAACAAAGTAGTAATTGGAATCATAGTTAACTAAAATAGAAAATAAACTTCAT... | AATATCTACCAACCAAGCCTTTAGTCAACATCTGCTGCATCATAAATGTCCTCAAAGTGTTTCCCAAAACAGACTTGATAATTAATTGGAAAATGATACTGGAAGTTATGGGGATTAGGTGCAGAGTTTTATTACCTTATACAGCAGTATTTATGATTACAATAAAACATACAAAAATGTTTTTATATTAATATAATACTAAAGAAGTTCAATGCTTGTAACTATTTTAATGGGCTTCTGACTTAAAGAAAATTTACTTAGGTACAATAACAAAGTAGTAATTGGAATCATAGTTAACTAAAATAGAAAATAAACTTCAT... |
Task1_train_18168 | A sequence alteration has been identified in PAH (phenylalanine hydroxylase) on Chromosome 12. Is it disease-inducing or harmless? | Pathogenic; Phenylketonuria | ATATCTACCAACCAAGCCTTTAGTCAACATCTGCTGCATCATAAATGTCCTCAAAGTGTTTCCCAAAACAGACTTGATAATTAATTGGAAAATGATACTGGAAGTTATGGGGATTAGGTGCAGAGTTTTATTACCTTATACAGCAGTATTTATGATTACAATAAAACATACAAAAATGTTTTTATATTAATATAATACTAAAGAAGTTCAATGCTTGTAACTATTTTAATGGGCTTCTGACTTAAAGAAAATTTACTTAGGTACAATAACAAAGTAGTAATTGGAATCATAGTTAACTAAAATAGAAAATAAACTTCATA... | ATATCTACCAACCAAGCCTTTAGTCAACATCTGCTGCATCATAAATGTCCTCAAAGTGTTTCCCAAAACAGACTTGATAATTAATTGGAAAATGATACTGGAAGTTATGGGGATTAGGTGCAGAGTTTTATTACCTTATACAGCAGTATTTATGATTACAATAAAACATACAAAAATGTTTTTATATTAATATAATACTAAAGAAGTTCAATGCTTGTAACTATTTTAATGGGCTTCTGACTTAAAGAAAATTTACTTAGGTACAATAACAAAGTAGTAATTGGAATCATAGTTAACTAAAATAGAAAATAAACTTCATA... |
Task1_train_18169 | The gene PAH (phenylalanine hydroxylase), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Phenylketonuria | AGCCTTTAGTCAACATCTGCTGCATCATAAATGTCCTCAAAGTGTTTCCCAAAACAGACTTGATAATTAATTGGAAAATGATACTGGAAGTTATGGGGATTAGGTGCAGAGTTTTATTACCTTATACAGCAGTATTTATGATTACAATAAAACATACAAAAATGTTTTTATATTAATATAATACTAAAGAAGTTCAATGCTTGTAACTATTTTAATGGGCTTCTGACTTAAAGAAAATTTACTTAGGTACAATAACAAAGTAGTAATTGGAATCATAGTTAACTAAAATAGAAAATAAACTTCATAGGTTACGATTTATA... | AGCCTTTAGTCAACATCTGCTGCATCATAAATGTCCTCAAAGTGTTTCCCAAAACAGACTTGATAATTAATTGGAAAATGATACTGGAAGTTATGGGGATTAGGTGCAGAGTTTTATTACCTTATACAGCAGTATTTATGATTACAATAAAACATACAAAAATGTTTTTATATTAATATAATACTAAAGAAGTTCAATGCTTGTAACTATTTTAATGGGCTTCTGACTTAAAGAAAATTTACTTAGGTACAATAACAAAGTAGTAATTGGAATCATAGTTAACTAAAATAGAAAATAAACTTCATAGGTTACGATTTATA... |
Task1_train_18170 | A variant found in Chromosome 12 affects PAH (phenylalanine hydroxylase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Phenylketonuria | GCCTTTAGTCAACATCTGCTGCATCATAAATGTCCTCAAAGTGTTTCCCAAAACAGACTTGATAATTAATTGGAAAATGATACTGGAAGTTATGGGGATTAGGTGCAGAGTTTTATTACCTTATACAGCAGTATTTATGATTACAATAAAACATACAAAAATGTTTTTATATTAATATAATACTAAAGAAGTTCAATGCTTGTAACTATTTTAATGGGCTTCTGACTTAAAGAAAATTTACTTAGGTACAATAACAAAGTAGTAATTGGAATCATAGTTAACTAAAATAGAAAATAAACTTCATAGGTTACGATTTATAT... | GCCTTTAGTCAACATCTGCTGCATCATAAATGTCCTCAAAGTGTTTCCCAAAACAGACTTGATAATTAATTGGAAAATGATACTGGAAGTTATGGGGATTAGGTGCAGAGTTTTATTACCTTATACAGCAGTATTTATGATTACAATAAAACATACAAAAATGTTTTTATATTAATATAATACTAAAGAAGTTCAATGCTTGTAACTATTTTAATGGGCTTCTGACTTAAAGAAAATTTACTTAGGTACAATAACAAAGTAGTAATTGGAATCATAGTTAACTAAAATAGAAAATAAACTTCATAGGTTACGATTTATAT... |
Task1_train_18171 | A change on Chromosome 12 affects gene PAH (phenylalanine hydroxylase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Phenylketonuria | TCTGCTGCATCATAAATGTCCTCAAAGTGTTTCCCAAAACAGACTTGATAATTAATTGGAAAATGATACTGGAAGTTATGGGGATTAGGTGCAGAGTTTTATTACCTTATACAGCAGTATTTATGATTACAATAAAACATACAAAAATGTTTTTATATTAATATAATACTAAAGAAGTTCAATGCTTGTAACTATTTTAATGGGCTTCTGACTTAAAGAAAATTTACTTAGGTACAATAACAAAGTAGTAATTGGAATCATAGTTAACTAAAATAGAAAATAAACTTCATAGGTTACGATTTATATTAAGCCCAATAATT... | TCTGCTGCATCATAAATGTCCTCAAAGTGTTTCCCAAAACAGACTTGATAATTAATTGGAAAATGATACTGGAAGTTATGGGGATTAGGTGCAGAGTTTTATTACCTTATACAGCAGTATTTATGATTACAATAAAACATACAAAAATGTTTTTATATTAATATAATACTAAAGAAGTTCAATGCTTGTAACTATTTTAATGGGCTTCTGACTTAAAGAAAATTTACTTAGGTACAATAACAAAGTAGTAATTGGAATCATAGTTAACTAAAATAGAAAATAAACTTCATAGGTTACGATTTATATTAAGCCCAATAATT... |
Task1_train_18172 | This sequence change occurs on Chromosome 12, altering PAH (phenylalanine hydroxylase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Phenylketonuria | TATGAGTGTTAGTTGCTATCTTTCATGAAGAACAAATGGCCAAGTATATATTTCCACCCCTTCTTCTCTGAAAGGAGCTGTCTCAACCCAGCTGGTGGCATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAA... | TATGAGTGTTAGTTGCTATCTTTCATGAAGAACAAATGGCCAAGTATATATTTCCACCCCTTCTTCTCTGAAAGGAGCTGTCTCAACCCAGCTGGTGGCATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAA... |
Task1_train_18173 | This variant lies on Chromosome 12 and affects the gene PAH (phenylalanine hydroxylase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Phenylketonuria | TATCTTTCATGAAGAACAAATGGCCAAGTATATATTTCCACCCCTTCTTCTCTGAAAGGAGCTGTCTCAACCCAGCTGGTGGCATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAA... | TATCTTTCATGAAGAACAAATGGCCAAGTATATATTTCCACCCCTTCTTCTCTGAAAGGAGCTGTCTCAACCCAGCTGGTGGCATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAA... |
Task1_train_18174 | A variant was discovered on Chromosome 12, affecting PAH (phenylalanine hydroxylase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Phenylketonuria | TGAAGAACAAATGGCCAAGTATATATTTCCACCCCTTCTTCTCTGAAAGGAGCTGTCTCAACCCAGCTGGTGGCATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGTTTCT... | TGAAGAACAAATGGCCAAGTATATATTTCCACCCCTTCTTCTCTGAAAGGAGCTGTCTCAACCCAGCTGGTGGCATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGTTTCT... |
Task1_train_18175 | A mutation in PAH (phenylalanine hydroxylase), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Phenylketonuria | AAGAACAAATGGCCAAGTATATATTTCCACCCCTTCTTCTCTGAAAGGAGCTGTCTCAACCCAGCTGGTGGCATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGTTTCTCT... | AAGAACAAATGGCCAAGTATATATTTCCACCCCTTCTTCTCTGAAAGGAGCTGTCTCAACCCAGCTGGTGGCATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGTTTCTCT... |
Task1_train_18176 | This sequence change occurs on Chromosome 12, altering PAH (phenylalanine hydroxylase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Phenylketonuria | AACAAATGGCCAAGTATATATTTCCACCCCTTCTTCTCTGAAAGGAGCTGTCTCAACCCAGCTGGTGGCATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGTTTCTCTTGG... | AACAAATGGCCAAGTATATATTTCCACCCCTTCTTCTCTGAAAGGAGCTGTCTCAACCCAGCTGGTGGCATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGTTTCTCTTGG... |
Task1_train_18177 | A mutation found in PAH (phenylalanine hydroxylase) on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Phenylketonuria | GGCCAAGTATATATTTCCACCCCTTCTTCTCTGAAAGGAGCTGTCTCAACCCAGCTGGTGGCATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGTTTCTCTTGGCTGAGAT... | GGCCAAGTATATATTTCCACCCCTTCTTCTCTGAAAGGAGCTGTCTCAACCCAGCTGGTGGCATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGTTTCTCTTGGCTGAGAT... |
Task1_train_18178 | A variant was discovered in gene PAH (phenylalanine hydroxylase), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Phenylketonuria | GGCCAAGTATATATTTCCACCCCTTCTTCTCTGAAAGGAGCTGTCTCAACCCAGCTGGTGGCATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGTTTCTCTTGGCTGAGAT... | GGCCAAGTATATATTTCCACCCCTTCTTCTCTGAAAGGAGCTGTCTCAACCCAGCTGGTGGCATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGTTTCTCTTGGCTGAGAT... |
Task1_train_18179 | Mutation context: Chromosome 12, Gene PAH (phenylalanine hydroxylase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Phenylketonuria | AGTATATATTTCCACCCCTTCTTCTCTGAAAGGAGCTGTCTCAACCCAGCTGGTGGCATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGTTTCTCTTGGCTGAGATGCTTT... | AGTATATATTTCCACCCCTTCTTCTCTGAAAGGAGCTGTCTCAACCCAGCTGGTGGCATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGTTTCTCTTGGCTGAGATGCTTT... |
Task1_train_18180 | A variant was discovered in gene PAH (phenylalanine hydroxylase), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Phenylketonuria | ACCCCTTCTTCTCTGAAAGGAGCTGTCTCAACCCAGCTGGTGGCATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGTTTCTCTTGGCTGAGATGCTTTGAGGGAATCCAAA... | ACCCCTTCTTCTCTGAAAGGAGCTGTCTCAACCCAGCTGGTGGCATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGTTTCTCTTGGCTGAGATGCTTTGAGGGAATCCAAA... |
Task1_train_18181 | This genomic variant is located on Chromosome 12, within the PAH (phenylalanine hydroxylase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Phenylketonuria | TTCTTCTCTGAAAGGAGCTGTCTCAACCCAGCTGGTGGCATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGTTTCTCTTGGCTGAGATGCTTTGAGGGAATCCAAAGGGAT... | TTCTTCTCTGAAAGGAGCTGTCTCAACCCAGCTGGTGGCATGAGCCACATGTTACACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGTTTCTCTTGGCTGAGATGCTTTGAGGGAATCCAAAGGGAT... |
Task1_train_18182 | This genomic variant is located on Chromosome 12, within the PAH (phenylalanine hydroxylase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Phenylketonuria | ACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGTTTCTCTTGGCTGAGATGCTTTGAGGGAATCCAAAGGGATGTGCAGATTCCTTGTTTTGAACTCTGTTCTTTAGCATTCTCTTTGATTCTCTGAG... | ACATCTGTGATTTTGCCTGCTCTGCACCTCTTCCTCCTTCTTCCCATAAAGCAGCTCATTTTTGCTTTGGGTGATTTACCCCTACCCTACTAGGTGTGTATCAGTCCAGAAGTCAGTATTCGGTGCCAGCCCTCCTCTGGAAAGGAGGTAGCATGTGAACCATGCTCAGCCAATCACATCTCTGCCTACAACTTGAATCTTAAAACTCCAAGTGGTTAGAATTGGTTTCTCTTGGCTGAGATGCTTTGAGGGAATCCAAAGGGATGTGCAGATTCCTTGTTTTGAACTCTGTTCTTTAGCATTCTCTTTGATTCTCTGAG... |
Task1_train_18183 | A variant affecting Chromosome 12, within the gene PAH (phenylalanine hydroxylase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Phenylketonuria | TAGGAGAGAATTAAAAAAGCAGAGCCAGAAGGACTTGAGAGCTCTGGACAGAGCTGGAGAAATAGTCATTTTAGGCCACACCAAGTGGATTTGTGGGCCAGCATTTTACCTTTAATTATCTAAAGATAGTAGACATAAATTAAGGAATATCCATTTTAAAAGAAAGAAAGTTAGTCCTCTTTGAAGTCTCTTTATTCCAAAGGGTTCTCAAACAAATGTTAGCTGGACCTGTCTTGTCCCACAATCTTACCTTGCAAATGTAAGGTAAGTGAATGAGCTGGCAAAAGGATAATTTTTACCTTTCTTTGTGAGGGGTCTGG... | TAGGAGAGAATTAAAAAAGCAGAGCCAGAAGGACTTGAGAGCTCTGGACAGAGCTGGAGAAATAGTCATTTTAGGCCACACCAAGTGGATTTGTGGGCCAGCATTTTACCTTTAATTATCTAAAGATAGTAGACATAAATTAAGGAATATCCATTTTAAAAGAAAGAAAGTTAGTCCTCTTTGAAGTCTCTTTATTCCAAAGGGTTCTCAAACAAATGTTAGCTGGACCTGTCTTGTCCCACAATCTTACCTTGCAAATGTAAGGTAAGTGAATGAGCTGGCAAAAGGATAATTTTTACCTTTCTTTGTGAGGGGTCTGG... |
Task1_train_18184 | A variant was discovered on Chromosome 12, affecting PAH (phenylalanine hydroxylase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Phenylketonuria | GAGAATTAAAAAAGCAGAGCCAGAAGGACTTGAGAGCTCTGGACAGAGCTGGAGAAATAGTCATTTTAGGCCACACCAAGTGGATTTGTGGGCCAGCATTTTACCTTTAATTATCTAAAGATAGTAGACATAAATTAAGGAATATCCATTTTAAAAGAAAGAAAGTTAGTCCTCTTTGAAGTCTCTTTATTCCAAAGGGTTCTCAAACAAATGTTAGCTGGACCTGTCTTGTCCCACAATCTTACCTTGCAAATGTAAGGTAAGTGAATGAGCTGGCAAAAGGATAATTTTTACCTTTCTTTGTGAGGGGTCTGGGGGGG... | GAGAATTAAAAAAGCAGAGCCAGAAGGACTTGAGAGCTCTGGACAGAGCTGGAGAAATAGTCATTTTAGGCCACACCAAGTGGATTTGTGGGCCAGCATTTTACCTTTAATTATCTAAAGATAGTAGACATAAATTAAGGAATATCCATTTTAAAAGAAAGAAAGTTAGTCCTCTTTGAAGTCTCTTTATTCCAAAGGGTTCTCAAACAAATGTTAGCTGGACCTGTCTTGTCCCACAATCTTACCTTGCAAATGTAAGGTAAGTGAATGAGCTGGCAAAAGGATAATTTTTACCTTTCTTTGTGAGGGGTCTGGGGGGG... |
Task1_train_18185 | This variant affects gene PAH (phenylalanine hydroxylase) located on Chromosome 12. Evaluate its biological effect and specify any disease association. | Pathogenic; Phenylketonuria | AATTAAAAAAGCAGAGCCAGAAGGACTTGAGAGCTCTGGACAGAGCTGGAGAAATAGTCATTTTAGGCCACACCAAGTGGATTTGTGGGCCAGCATTTTACCTTTAATTATCTAAAGATAGTAGACATAAATTAAGGAATATCCATTTTAAAAGAAAGAAAGTTAGTCCTCTTTGAAGTCTCTTTATTCCAAAGGGTTCTCAAACAAATGTTAGCTGGACCTGTCTTGTCCCACAATCTTACCTTGCAAATGTAAGGTAAGTGAATGAGCTGGCAAAAGGATAATTTTTACCTTTCTTTGTGAGGGGTCTGGGGGGGATG... | AATTAAAAAAGCAGAGCCAGAAGGACTTGAGAGCTCTGGACAGAGCTGGAGAAATAGTCATTTTAGGCCACACCAAGTGGATTTGTGGGCCAGCATTTTACCTTTAATTATCTAAAGATAGTAGACATAAATTAAGGAATATCCATTTTAAAAGAAAGAAAGTTAGTCCTCTTTGAAGTCTCTTTATTCCAAAGGGTTCTCAAACAAATGTTAGCTGGACCTGTCTTGTCCCACAATCTTACCTTGCAAATGTAAGGTAAGTGAATGAGCTGGCAAAAGGATAATTTTTACCTTTCTTTGTGAGGGGTCTGGGGGGGATG... |
Task1_train_18186 | Given a variant located on Chromosome 12 and affecting PAH (phenylalanine hydroxylase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Phenylketonuria | ATTAAAAAAGCAGAGCCAGAAGGACTTGAGAGCTCTGGACAGAGCTGGAGAAATAGTCATTTTAGGCCACACCAAGTGGATTTGTGGGCCAGCATTTTACCTTTAATTATCTAAAGATAGTAGACATAAATTAAGGAATATCCATTTTAAAAGAAAGAAAGTTAGTCCTCTTTGAAGTCTCTTTATTCCAAAGGGTTCTCAAACAAATGTTAGCTGGACCTGTCTTGTCCCACAATCTTACCTTGCAAATGTAAGGTAAGTGAATGAGCTGGCAAAAGGATAATTTTTACCTTTCTTTGTGAGGGGTCTGGGGGGGATGG... | ATTAAAAAAGCAGAGCCAGAAGGACTTGAGAGCTCTGGACAGAGCTGGAGAAATAGTCATTTTAGGCCACACCAAGTGGATTTGTGGGCCAGCATTTTACCTTTAATTATCTAAAGATAGTAGACATAAATTAAGGAATATCCATTTTAAAAGAAAGAAAGTTAGTCCTCTTTGAAGTCTCTTTATTCCAAAGGGTTCTCAAACAAATGTTAGCTGGACCTGTCTTGTCCCACAATCTTACCTTGCAAATGTAAGGTAAGTGAATGAGCTGGCAAAAGGATAATTTTTACCTTTCTTTGTGAGGGGTCTGGGGGGGATGG... |
Task1_train_18187 | Given a variant located on Chromosome 12 and affecting PAH (phenylalanine hydroxylase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; See cases | AAAAAAGCAGAGCCAGAAGGACTTGAGAGCTCTGGACAGAGCTGGAGAAATAGTCATTTTAGGCCACACCAAGTGGATTTGTGGGCCAGCATTTTACCTTTAATTATCTAAAGATAGTAGACATAAATTAAGGAATATCCATTTTAAAAGAAAGAAAGTTAGTCCTCTTTGAAGTCTCTTTATTCCAAAGGGTTCTCAAACAAATGTTAGCTGGACCTGTCTTGTCCCACAATCTTACCTTGCAAATGTAAGGTAAGTGAATGAGCTGGCAAAAGGATAATTTTTACCTTTCTTTGTGAGGGGTCTGGGGGGGATGGAAT... | AAAAAAGCAGAGCCAGAAGGACTTGAGAGCTCTGGACAGAGCTGGAGAAATAGTCATTTTAGGCCACACCAAGTGGATTTGTGGGCCAGCATTTTACCTTTAATTATCTAAAGATAGTAGACATAAATTAAGGAATATCCATTTTAAAAGAAAGAAAGTTAGTCCTCTTTGAAGTCTCTTTATTCCAAAGGGTTCTCAAACAAATGTTAGCTGGACCTGTCTTGTCCCACAATCTTACCTTGCAAATGTAAGGTAAGTGAATGAGCTGGCAAAAGGATAATTTTTACCTTTCTTTGTGAGGGGTCTGGGGGGGATGGAAT... |
Task1_train_18188 | Given a variant located on Chromosome 12 and affecting PAH (phenylalanine hydroxylase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Inborn genetic diseases | AAAAAAGCAGAGCCAGAAGGACTTGAGAGCTCTGGACAGAGCTGGAGAAATAGTCATTTTAGGCCACACCAAGTGGATTTGTGGGCCAGCATTTTACCTTTAATTATCTAAAGATAGTAGACATAAATTAAGGAATATCCATTTTAAAAGAAAGAAAGTTAGTCCTCTTTGAAGTCTCTTTATTCCAAAGGGTTCTCAAACAAATGTTAGCTGGACCTGTCTTGTCCCACAATCTTACCTTGCAAATGTAAGGTAAGTGAATGAGCTGGCAAAAGGATAATTTTTACCTTTCTTTGTGAGGGGTCTGGGGGGGATGGAAT... | AAAAAAGCAGAGCCAGAAGGACTTGAGAGCTCTGGACAGAGCTGGAGAAATAGTCATTTTAGGCCACACCAAGTGGATTTGTGGGCCAGCATTTTACCTTTAATTATCTAAAGATAGTAGACATAAATTAAGGAATATCCATTTTAAAAGAAAGAAAGTTAGTCCTCTTTGAAGTCTCTTTATTCCAAAGGGTTCTCAAACAAATGTTAGCTGGACCTGTCTTGTCCCACAATCTTACCTTGCAAATGTAAGGTAAGTGAATGAGCTGGCAAAAGGATAATTTTTACCTTTCTTTGTGAGGGGTCTGGGGGGGATGGAAT... |
Task1_train_18189 | A mutation in PAH (phenylalanine hydroxylase), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Phenylketonuria | AAAAAAGCAGAGCCAGAAGGACTTGAGAGCTCTGGACAGAGCTGGAGAAATAGTCATTTTAGGCCACACCAAGTGGATTTGTGGGCCAGCATTTTACCTTTAATTATCTAAAGATAGTAGACATAAATTAAGGAATATCCATTTTAAAAGAAAGAAAGTTAGTCCTCTTTGAAGTCTCTTTATTCCAAAGGGTTCTCAAACAAATGTTAGCTGGACCTGTCTTGTCCCACAATCTTACCTTGCAAATGTAAGGTAAGTGAATGAGCTGGCAAAAGGATAATTTTTACCTTTCTTTGTGAGGGGTCTGGGGGGGATGGAAT... | AAAAAAGCAGAGCCAGAAGGACTTGAGAGCTCTGGACAGAGCTGGAGAAATAGTCATTTTAGGCCACACCAAGTGGATTTGTGGGCCAGCATTTTACCTTTAATTATCTAAAGATAGTAGACATAAATTAAGGAATATCCATTTTAAAAGAAAGAAAGTTAGTCCTCTTTGAAGTCTCTTTATTCCAAAGGGTTCTCAAACAAATGTTAGCTGGACCTGTCTTGTCCCACAATCTTACCTTGCAAATGTAAGGTAAGTGAATGAGCTGGCAAAAGGATAATTTTTACCTTTCTTTGTGAGGGGTCTGGGGGGGATGGAAT... |
Task1_train_18190 | Consider a variant on Chromosome 12 in gene PAH (phenylalanine hydroxylase). Determine its clinical classification and disease relevance. | Pathogenic; Phenylketonuria | GAGCCAGAAGGACTTGAGAGCTCTGGACAGAGCTGGAGAAATAGTCATTTTAGGCCACACCAAGTGGATTTGTGGGCCAGCATTTTACCTTTAATTATCTAAAGATAGTAGACATAAATTAAGGAATATCCATTTTAAAAGAAAGAAAGTTAGTCCTCTTTGAAGTCTCTTTATTCCAAAGGGTTCTCAAACAAATGTTAGCTGGACCTGTCTTGTCCCACAATCTTACCTTGCAAATGTAAGGTAAGTGAATGAGCTGGCAAAAGGATAATTTTTACCTTTCTTTGTGAGGGGTCTGGGGGGGATGGAATTTGGATTTA... | GAGCCAGAAGGACTTGAGAGCTCTGGACAGAGCTGGAGAAATAGTCATTTTAGGCCACACCAAGTGGATTTGTGGGCCAGCATTTTACCTTTAATTATCTAAAGATAGTAGACATAAATTAAGGAATATCCATTTTAAAAGAAAGAAAGTTAGTCCTCTTTGAAGTCTCTTTATTCCAAAGGGTTCTCAAACAAATGTTAGCTGGACCTGTCTTGTCCCACAATCTTACCTTGCAAATGTAAGGTAAGTGAATGAGCTGGCAAAAGGATAATTTTTACCTTTCTTTGTGAGGGGTCTGGGGGGGATGGAATTTGGATTTA... |
Task1_train_18191 | A genomic change on Chromosome 12 affects PAH (phenylalanine hydroxylase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Phenylketonuria | TCTGGACAGAGCTGGAGAAATAGTCATTTTAGGCCACACCAAGTGGATTTGTGGGCCAGCATTTTACCTTTAATTATCTAAAGATAGTAGACATAAATTAAGGAATATCCATTTTAAAAGAAAGAAAGTTAGTCCTCTTTGAAGTCTCTTTATTCCAAAGGGTTCTCAAACAAATGTTAGCTGGACCTGTCTTGTCCCACAATCTTACCTTGCAAATGTAAGGTAAGTGAATGAGCTGGCAAAAGGATAATTTTTACCTTTCTTTGTGAGGGGTCTGGGGGGGATGGAATTTGGATTTAGAAAGGAAGGACTAAGATGTA... | TCTGGACAGAGCTGGAGAAATAGTCATTTTAGGCCACACCAAGTGGATTTGTGGGCCAGCATTTTACCTTTAATTATCTAAAGATAGTAGACATAAATTAAGGAATATCCATTTTAAAAGAAAGAAAGTTAGTCCTCTTTGAAGTCTCTTTATTCCAAAGGGTTCTCAAACAAATGTTAGCTGGACCTGTCTTGTCCCACAATCTTACCTTGCAAATGTAAGGTAAGTGAATGAGCTGGCAAAAGGATAATTTTTACCTTTCTTTGTGAGGGGTCTGGGGGGGATGGAATTTGGATTTAGAAAGGAAGGACTAAGATGTA... |
Task1_train_18192 | A variant was discovered in gene PAH (phenylalanine hydroxylase), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Phenylketonuria | AGAAATAGTCATTTTAGGCCACACCAAGTGGATTTGTGGGCCAGCATTTTACCTTTAATTATCTAAAGATAGTAGACATAAATTAAGGAATATCCATTTTAAAAGAAAGAAAGTTAGTCCTCTTTGAAGTCTCTTTATTCCAAAGGGTTCTCAAACAAATGTTAGCTGGACCTGTCTTGTCCCACAATCTTACCTTGCAAATGTAAGGTAAGTGAATGAGCTGGCAAAAGGATAATTTTTACCTTTCTTTGTGAGGGGTCTGGGGGGGATGGAATTTGGATTTAGAAAGGAAGGACTAAGATGTATGTTCATTTGTCTTT... | AGAAATAGTCATTTTAGGCCACACCAAGTGGATTTGTGGGCCAGCATTTTACCTTTAATTATCTAAAGATAGTAGACATAAATTAAGGAATATCCATTTTAAAAGAAAGAAAGTTAGTCCTCTTTGAAGTCTCTTTATTCCAAAGGGTTCTCAAACAAATGTTAGCTGGACCTGTCTTGTCCCACAATCTTACCTTGCAAATGTAAGGTAAGTGAATGAGCTGGCAAAAGGATAATTTTTACCTTTCTTTGTGAGGGGTCTGGGGGGGATGGAATTTGGATTTAGAAAGGAAGGACTAAGATGTATGTTCATTTGTCTTT... |
Task1_train_18193 | A mutation found in PAH (phenylalanine hydroxylase) on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Phenylketonuria | TAGTCATTTTAGGCCACACCAAGTGGATTTGTGGGCCAGCATTTTACCTTTAATTATCTAAAGATAGTAGACATAAATTAAGGAATATCCATTTTAAAAGAAAGAAAGTTAGTCCTCTTTGAAGTCTCTTTATTCCAAAGGGTTCTCAAACAAATGTTAGCTGGACCTGTCTTGTCCCACAATCTTACCTTGCAAATGTAAGGTAAGTGAATGAGCTGGCAAAAGGATAATTTTTACCTTTCTTTGTGAGGGGTCTGGGGGGGATGGAATTTGGATTTAGAAAGGAAGGACTAAGATGTATGTTCATTTGTCTTTGACTT... | TAGTCATTTTAGGCCACACCAAGTGGATTTGTGGGCCAGCATTTTACCTTTAATTATCTAAAGATAGTAGACATAAATTAAGGAATATCCATTTTAAAAGAAAGAAAGTTAGTCCTCTTTGAAGTCTCTTTATTCCAAAGGGTTCTCAAACAAATGTTAGCTGGACCTGTCTTGTCCCACAATCTTACCTTGCAAATGTAAGGTAAGTGAATGAGCTGGCAAAAGGATAATTTTTACCTTTCTTTGTGAGGGGTCTGGGGGGGATGGAATTTGGATTTAGAAAGGAAGGACTAAGATGTATGTTCATTTGTCTTTGACTT... |
Task1_train_18194 | A sequence alteration has been identified in PAH (phenylalanine hydroxylase) on Chromosome 12. Is it disease-inducing or harmless? | Pathogenic; Phenylketonuria | GAGGCTTTTGAACTTTGACTAATCTACGCCACTGACTTTTCAGGTTCTCCAGCTTGCAGGCAGCATATCGTGGGACCTCTCAGCCTTGATAACTGTGTAAGCCAATTCCCCTAATAAGTCCCCTCTCAGATTTCCCTCTCTCTCTTTCTCTCTCTATATATATCTCACTGGTTCTTTCTCTCTGGAGATCTTTGACTAGTACACACCTCAAAGAAGGAGAAGGCAGCAACTGCCCCAGTGCCATGGACAGGATTGCCCAGGTAGAAGCCTGTGCAGGTTTGTTCTCTGAATCAGCATGACCTGTGATCACGTCTCTGTGT... | GAGGCTTTTGAACTTTGACTAATCTACGCCACTGACTTTTCAGGTTCTCCAGCTTGCAGGCAGCATATCGTGGGACCTCTCAGCCTTGATAACTGTGTAAGCCAATTCCCCTAATAAGTCCCCTCTCAGATTTCCCTCTCTCTCTTTCTCTCTCTATATATATCTCACTGGTTCTTTCTCTCTGGAGATCTTTGACTAGTACACACCTCAAAGAAGGAGAAGGCAGCAACTGCCCCAGTGCCATGGACAGGATTGCCCAGGTAGAAGCCTGTGCAGGTTTGTTCTCTGAATCAGCATGACCTGTGATCACGTCTCTGTGT... |
Task1_train_18195 | A variant was discovered on Chromosome 12, affecting PAH (phenylalanine hydroxylase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Phenylketonuria | AATCTACGCCACTGACTTTTCAGGTTCTCCAGCTTGCAGGCAGCATATCGTGGGACCTCTCAGCCTTGATAACTGTGTAAGCCAATTCCCCTAATAAGTCCCCTCTCAGATTTCCCTCTCTCTCTTTCTCTCTCTATATATATCTCACTGGTTCTTTCTCTCTGGAGATCTTTGACTAGTACACACCTCAAAGAAGGAGAAGGCAGCAACTGCCCCAGTGCCATGGACAGGATTGCCCAGGTAGAAGCCTGTGCAGGTTTGTTCTCTGAATCAGCATGACCTGTGATCACGTCTCTGTGTCCTGTGTCTCACTCTATCTA... | AATCTACGCCACTGACTTTTCAGGTTCTCCAGCTTGCAGGCAGCATATCGTGGGACCTCTCAGCCTTGATAACTGTGTAAGCCAATTCCCCTAATAAGTCCCCTCTCAGATTTCCCTCTCTCTCTTTCTCTCTCTATATATATCTCACTGGTTCTTTCTCTCTGGAGATCTTTGACTAGTACACACCTCAAAGAAGGAGAAGGCAGCAACTGCCCCAGTGCCATGGACAGGATTGCCCAGGTAGAAGCCTGTGCAGGTTTGTTCTCTGAATCAGCATGACCTGTGATCACGTCTCTGTGTCCTGTGTCTCACTCTATCTA... |
Task1_train_18196 | This sequence change occurs on Chromosome 12, altering PAH (phenylalanine hydroxylase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Phenylketonuria | TCTACGCCACTGACTTTTCAGGTTCTCCAGCTTGCAGGCAGCATATCGTGGGACCTCTCAGCCTTGATAACTGTGTAAGCCAATTCCCCTAATAAGTCCCCTCTCAGATTTCCCTCTCTCTCTTTCTCTCTCTATATATATCTCACTGGTTCTTTCTCTCTGGAGATCTTTGACTAGTACACACCTCAAAGAAGGAGAAGGCAGCAACTGCCCCAGTGCCATGGACAGGATTGCCCAGGTAGAAGCCTGTGCAGGTTTGTTCTCTGAATCAGCATGACCTGTGATCACGTCTCTGTGTCCTGTGTCTCACTCTATCTAGT... | TCTACGCCACTGACTTTTCAGGTTCTCCAGCTTGCAGGCAGCATATCGTGGGACCTCTCAGCCTTGATAACTGTGTAAGCCAATTCCCCTAATAAGTCCCCTCTCAGATTTCCCTCTCTCTCTTTCTCTCTCTATATATATCTCACTGGTTCTTTCTCTCTGGAGATCTTTGACTAGTACACACCTCAAAGAAGGAGAAGGCAGCAACTGCCCCAGTGCCATGGACAGGATTGCCCAGGTAGAAGCCTGTGCAGGTTTGTTCTCTGAATCAGCATGACCTGTGATCACGTCTCTGTGTCCTGTGTCTCACTCTATCTAGT... |
Task1_train_18197 | This variant impacts the gene PAH (phenylalanine hydroxylase) on Chromosome 12. Is the change likely to result in a pathogenic outcome? | Pathogenic; Phenylketonuria | ACGCCACTGACTTTTCAGGTTCTCCAGCTTGCAGGCAGCATATCGTGGGACCTCTCAGCCTTGATAACTGTGTAAGCCAATTCCCCTAATAAGTCCCCTCTCAGATTTCCCTCTCTCTCTTTCTCTCTCTATATATATCTCACTGGTTCTTTCTCTCTGGAGATCTTTGACTAGTACACACCTCAAAGAAGGAGAAGGCAGCAACTGCCCCAGTGCCATGGACAGGATTGCCCAGGTAGAAGCCTGTGCAGGTTTGTTCTCTGAATCAGCATGACCTGTGATCACGTCTCTGTGTCCTGTGTCTCACTCTATCTAGTCAC... | ACGCCACTGACTTTTCAGGTTCTCCAGCTTGCAGGCAGCATATCGTGGGACCTCTCAGCCTTGATAACTGTGTAAGCCAATTCCCCTAATAAGTCCCCTCTCAGATTTCCCTCTCTCTCTTTCTCTCTCTATATATATCTCACTGGTTCTTTCTCTCTGGAGATCTTTGACTAGTACACACCTCAAAGAAGGAGAAGGCAGCAACTGCCCCAGTGCCATGGACAGGATTGCCCAGGTAGAAGCCTGTGCAGGTTTGTTCTCTGAATCAGCATGACCTGTGATCACGTCTCTGTGTCCTGTGTCTCACTCTATCTAGTCAC... |
Task1_train_18198 | This sequence change occurs on Chromosome 12, altering PAH (phenylalanine hydroxylase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Phenylketonuria | CCACTGACTTTTCAGGTTCTCCAGCTTGCAGGCAGCATATCGTGGGACCTCTCAGCCTTGATAACTGTGTAAGCCAATTCCCCTAATAAGTCCCCTCTCAGATTTCCCTCTCTCTCTTTCTCTCTCTATATATATCTCACTGGTTCTTTCTCTCTGGAGATCTTTGACTAGTACACACCTCAAAGAAGGAGAAGGCAGCAACTGCCCCAGTGCCATGGACAGGATTGCCCAGGTAGAAGCCTGTGCAGGTTTGTTCTCTGAATCAGCATGACCTGTGATCACGTCTCTGTGTCCTGTGTCTCACTCTATCTAGTCACCTG... | CCACTGACTTTTCAGGTTCTCCAGCTTGCAGGCAGCATATCGTGGGACCTCTCAGCCTTGATAACTGTGTAAGCCAATTCCCCTAATAAGTCCCCTCTCAGATTTCCCTCTCTCTCTTTCTCTCTCTATATATATCTCACTGGTTCTTTCTCTCTGGAGATCTTTGACTAGTACACACCTCAAAGAAGGAGAAGGCAGCAACTGCCCCAGTGCCATGGACAGGATTGCCCAGGTAGAAGCCTGTGCAGGTTTGTTCTCTGAATCAGCATGACCTGTGATCACGTCTCTGTGTCCTGTGTCTCACTCTATCTAGTCACCTG... |
Task1_train_18199 | Chromosome 12 houses a mutation in gene PAH (phenylalanine hydroxylase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Phenylketonuria | ACTTTTCAGGTTCTCCAGCTTGCAGGCAGCATATCGTGGGACCTCTCAGCCTTGATAACTGTGTAAGCCAATTCCCCTAATAAGTCCCCTCTCAGATTTCCCTCTCTCTCTTTCTCTCTCTATATATATCTCACTGGTTCTTTCTCTCTGGAGATCTTTGACTAGTACACACCTCAAAGAAGGAGAAGGCAGCAACTGCCCCAGTGCCATGGACAGGATTGCCCAGGTAGAAGCCTGTGCAGGTTTGTTCTCTGAATCAGCATGACCTGTGATCACGTCTCTGTGTCCTGTGTCTCACTCTATCTAGTCACCTGTTGAGT... | ACTTTTCAGGTTCTCCAGCTTGCAGGCAGCATATCGTGGGACCTCTCAGCCTTGATAACTGTGTAAGCCAATTCCCCTAATAAGTCCCCTCTCAGATTTCCCTCTCTCTCTTTCTCTCTCTATATATATCTCACTGGTTCTTTCTCTCTGGAGATCTTTGACTAGTACACACCTCAAAGAAGGAGAAGGCAGCAACTGCCCCAGTGCCATGGACAGGATTGCCCAGGTAGAAGCCTGTGCAGGTTTGTTCTCTGAATCAGCATGACCTGTGATCACGTCTCTGTGTCCTGTGTCTCACTCTATCTAGTCACCTGTTGAGT... |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.