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_10400 | A change on Chromosome 6 affects gene RUNX2 (RUNX family transcription factor 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Cleidocranial dysostosis | CAGCCTGGCCAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAGTCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGTGATAGACTAAGACTCCATCTCAAAAAAAAAAAAAAATTAATAAAACACTTACCATGTGCTGGACACTTTTGGGAGCAGGGTTGATAAGTGGTGAACAAGACAGATGAGATGAAGGCCCTTCTCTCGTGTAGTTTCCTAACTCAT... | CAGCCTGGCCAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAGTCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGTGATAGACTAAGACTCCATCTCAAAAAAAAAAAAAAATTAATAAAACACTTACCATGTGCTGGACACTTTTGGGAGCAGGGTTGATAAGTGGTGAACAAGACAGATGAGATGAAGGCCCTTCTCTCGTGTAGTTTCCTAACTCAT... |
Task1_train_10401 | A sequence alteration has been identified in RUNX2 (RUNX family transcription factor 2) on Chromosome 6. Is it disease-inducing or harmless? | Pathogenic; Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome | CAGCCTGGCCAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAGTCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGTGATAGACTAAGACTCCATCTCAAAAAAAAAAAAAAATTAATAAAACACTTACCATGTGCTGGACACTTTTGGGAGCAGGGTTGATAAGTGGTGAACAAGACAGATGAGATGAAGGCCCTTCTCTCGTGTAGTTTCCTAACTCAT... | CAGCCTGGCCAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAGTCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGTGATAGACTAAGACTCCATCTCAAAAAAAAAAAAAAATTAATAAAACACTTACCATGTGCTGGACACTTTTGGGAGCAGGGTTGATAAGTGGTGAACAAGACAGATGAGATGAAGGCCCTTCTCTCGTGTAGTTTCCTAACTCAT... |
Task1_train_10402 | Gene RUNX2 (RUNX family transcription factor 2) on Chromosome 6 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Cleidocranial dysostosis | CAGCCTGGCCAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAGTCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGTGATAGACTAAGACTCCATCTCAAAAAAAAAAAAAAATTAATAAAACACTTACCATGTGCTGGACACTTTTGGGAGCAGGGTTGATAAGTGGTGAACAAGACAGATGAGATGAAGGCCCTTCTCTCGTGTAGTTTCCTAACTCAT... | CAGCCTGGCCAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAGTCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGTGATAGACTAAGACTCCATCTCAAAAAAAAAAAAAAATTAATAAAACACTTACCATGTGCTGGACACTTTTGGGAGCAGGGTTGATAAGTGGTGAACAAGACAGATGAGATGAAGGCCCTTCTCTCGTGTAGTTTCCTAACTCAT... |
Task1_train_10403 | Gene RUNX2 (RUNX family transcription factor 2) on Chromosome 6 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Cleidocranial dysostosis | CTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAGTCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGTGATAGACTAAGACTCCATCTCAAAAAAAAAAAAAAATTAATAAAACACTTACCATGTGCTGGACACTTTTGGGAGCAGGGTTGATAAGTGGTGAACAAGACAGATGAGATGAAGGCCCTTCTCTCGTGTAGTTTCCTAACTCATATAATCTGGACTCCTAGGAGTGAGTCCCTCAGC... | CTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAGTCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGTGATAGACTAAGACTCCATCTCAAAAAAAAAAAAAAATTAATAAAACACTTACCATGTGCTGGACACTTTTGGGAGCAGGGTTGATAAGTGGTGAACAAGACAGATGAGATGAAGGCCCTTCTCTCGTGTAGTTTCCTAACTCATATAATCTGGACTCCTAGGAGTGAGTCCCTCAGC... |
Task1_train_10404 | Gene RUNX2 (RUNX family transcription factor 2) on Chromosome 6 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome | TGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAGTCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGTGATAGACTAAGACTCCATCTCAAAAAAAAAAAAAAATTAATAAAACACTTACCATGTGCTGGACACTTTTGGGAGCAGGGTTGATAAGTGGTGAACAAGACAGATGAGATGAAGGCCCTTCTCTCGTGTAGTTTCCTAACTCATATAATCTGGACTCCTAGGAGTGAGTCCCTCAGCTTTGGCCTGGTATATTTAAAGTAGTCATA... | TGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAGTCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGTGATAGACTAAGACTCCATCTCAAAAAAAAAAAAAAATTAATAAAACACTTACCATGTGCTGGACACTTTTGGGAGCAGGGTTGATAAGTGGTGAACAAGACAGATGAGATGAAGGCCCTTCTCTCGTGTAGTTTCCTAACTCATATAATCTGGACTCCTAGGAGTGAGTCCCTCAGCTTTGGCCTGGTATATTTAAAGTAGTCATA... |
Task1_train_10405 | Given a variant located on Chromosome 6 and affecting RUNX2 (RUNX family transcription factor 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Cleidocranial dysostosis | TGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAGTCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGTGATAGACTAAGACTCCATCTCAAAAAAAAAAAAAAATTAATAAAACACTTACCATGTGCTGGACACTTTTGGGAGCAGGGTTGATAAGTGGTGAACAAGACAGATGAGATGAAGGCCCTTCTCTCGTGTAGTTTCCTAACTCATATAATCTGGACTCCTAGGAGTGAGTCCCTCAGCTTTGGCCTGGTATATTTAAAGTAGTCATA... | TGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAGTCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGTGATAGACTAAGACTCCATCTCAAAAAAAAAAAAAAATTAATAAAACACTTACCATGTGCTGGACACTTTTGGGAGCAGGGTTGATAAGTGGTGAACAAGACAGATGAGATGAAGGCCCTTCTCTCGTGTAGTTTCCTAACTCATATAATCTGGACTCCTAGGAGTGAGTCCCTCAGCTTTGGCCTGGTATATTTAAAGTAGTCATA... |
Task1_train_10406 | The gene RUNX2 (RUNX family transcription factor 2) on Chromosome 6 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome | TGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAGTCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGTGATAGACTAAGACTCCATCTCAAAAAAAAAAAAAAATTAATAAAACACTTACCATGTGCTGGACACTTTTGGGAGCAGGGTTGATAAGTGGTGAACAAGACAGATGAGATGAAGGCCCTTCTCTCGTGTAGTTTCCTAACTCATATAATCTGGACTCCTAGGAGTGAGTCCCTCAGCTTTGGCCTGGTATATTTAAAGTAGTCATA... | TGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAGTCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGTGATAGACTAAGACTCCATCTCAAAAAAAAAAAAAAATTAATAAAACACTTACCATGTGCTGGACACTTTTGGGAGCAGGGTTGATAAGTGGTGAACAAGACAGATGAGATGAAGGCCCTTCTCTCGTGTAGTTTCCTAACTCATATAATCTGGACTCCTAGGAGTGAGTCCCTCAGCTTTGGCCTGGTATATTTAAAGTAGTCATA... |
Task1_train_10407 | This variant affects gene RUNX2 (RUNX family transcription factor 2) located on Chromosome 6. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | GCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAGTCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGTGATAGACTAAGACTCCATCTCAAAAAAAAAAAAAAATTAATAAAACACTTACCATGTGCTGGACACTTTTGGGAGCAGGGTTGATAAGTGGTGAACAAGACAGATGAGATGAAGGCCCTTCTCTCGTGTAGTTTCCTAACTCATATAATCTGGACTCCTAGGAGTGAGTCCCTCAGCTTTGGCCTGGTATATTTAAAGTAGTCATAGACC... | GCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAGTCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGTGATAGACTAAGACTCCATCTCAAAAAAAAAAAAAAATTAATAAAACACTTACCATGTGCTGGACACTTTTGGGAGCAGGGTTGATAAGTGGTGAACAAGACAGATGAGATGAAGGCCCTTCTCTCGTGTAGTTTCCTAACTCATATAATCTGGACTCCTAGGAGTGAGTCCCTCAGCTTTGGCCTGGTATATTTAAAGTAGTCATAGACC... |
Task1_train_10408 | This sequence variant lies in RUNX2 (RUNX family transcription factor 2) on Chromosome 6. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | CTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAGTCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGTGATAGACTAAGACTCCATCTCAAAAAAAAAAAAAAATTAATAAAACACTTACCATGTGCTGGACACTTTTGGGAGCAGGGTTGATAAGTGGTGAACAAGACAGATGAGATGAAGGCCCTTCTCTCGTGTAGTTTCCTAACTCATATAATCTGGACTCCTAGGAGTGAGTCCCTCAGCTTTGGCCTGGTATATTTAAAGTAGTCATAGACCATTAAT... | CTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAGTCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGTGATAGACTAAGACTCCATCTCAAAAAAAAAAAAAAATTAATAAAACACTTACCATGTGCTGGACACTTTTGGGAGCAGGGTTGATAAGTGGTGAACAAGACAGATGAGATGAAGGCCCTTCTCTCGTGTAGTTTCCTAACTCATATAATCTGGACTCCTAGGAGTGAGTCCCTCAGCTTTGGCCTGGTATATTTAAAGTAGTCATAGACCATTAAT... |
Task1_train_10409 | A mutation found in RUNX2 (RUNX family transcription factor 2) on Chromosome 6 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | GGTTCTAACTTGGACCCAGTGGCTTCCTATTCAAGTTTCTGGTTTCTAATTCTGTAGGCTTTTAGTTTTCTGTAACTAGTTTAGACTCCTGGCTGGTTTATTCTTCTGGTTAGTCTTAACGCTTATAATAAAGCCTCTCTTTGCTAACCAATTATAAATTATTTAAATCCGTGTAATAGCCAATATAGTGGATAAAATATATCAATGACACTTTAAAAATAGATGCTTTCATCATCCTGAGATATTGCATTAGTCCATTTATGTTTACTGTTTCTTGGGCACATAGAGCTGATTGGGACGCATCTAGAAATAAATTACTT... | GGTTCTAACTTGGACCCAGTGGCTTCCTATTCAAGTTTCTGGTTTCTAATTCTGTAGGCTTTTAGTTTTCTGTAACTAGTTTAGACTCCTGGCTGGTTTATTCTTCTGGTTAGTCTTAACGCTTATAATAAAGCCTCTCTTTGCTAACCAATTATAAATTATTTAAATCCGTGTAATAGCCAATATAGTGGATAAAATATATCAATGACACTTTAAAAATAGATGCTTTCATCATCCTGAGATATTGCATTAGTCCATTTATGTTTACTGTTTCTTGGGCACATAGAGCTGATTGGGACGCATCTAGAAATAAATTACTT... |
Task1_train_10410 | This variant affects the gene RUNX2 (RUNX family transcription factor 2) found on Chromosome 6. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not provided | TAGGCTTTTAGTTTTCTGTAACTAGTTTAGACTCCTGGCTGGTTTATTCTTCTGGTTAGTCTTAACGCTTATAATAAAGCCTCTCTTTGCTAACCAATTATAAATTATTTAAATCCGTGTAATAGCCAATATAGTGGATAAAATATATCAATGACACTTTAAAAATAGATGCTTTCATCATCCTGAGATATTGCATTAGTCCATTTATGTTTACTGTTTCTTGGGCACATAGAGCTGATTGGGACGCATCTAGAAATAAATTACTTATTAATTTTTTTAAATGGCAAGTGATCAAGCCACTTAAGGAAGTGGCCAAGTGA... | TAGGCTTTTAGTTTTCTGTAACTAGTTTAGACTCCTGGCTGGTTTATTCTTCTGGTTAGTCTTAACGCTTATAATAAAGCCTCTCTTTGCTAACCAATTATAAATTATTTAAATCCGTGTAATAGCCAATATAGTGGATAAAATATATCAATGACACTTTAAAAATAGATGCTTTCATCATCCTGAGATATTGCATTAGTCCATTTATGTTTACTGTTTCTTGGGCACATAGAGCTGATTGGGACGCATCTAGAAATAAATTACTTATTAATTTTTTTAAATGGCAAGTGATCAAGCCACTTAAGGAAGTGGCCAAGTGA... |
Task1_train_10411 | This alteration in RUNX2 (RUNX family transcription factor 2) on Chromosome 6 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | TTAGTTTTCTGTAACTAGTTTAGACTCCTGGCTGGTTTATTCTTCTGGTTAGTCTTAACGCTTATAATAAAGCCTCTCTTTGCTAACCAATTATAAATTATTTAAATCCGTGTAATAGCCAATATAGTGGATAAAATATATCAATGACACTTTAAAAATAGATGCTTTCATCATCCTGAGATATTGCATTAGTCCATTTATGTTTACTGTTTCTTGGGCACATAGAGCTGATTGGGACGCATCTAGAAATAAATTACTTATTAATTTTTTTAAATGGCAAGTGATCAAGCCACTTAAGGAAGTGGCCAAGTGACAGAATA... | TTAGTTTTCTGTAACTAGTTTAGACTCCTGGCTGGTTTATTCTTCTGGTTAGTCTTAACGCTTATAATAAAGCCTCTCTTTGCTAACCAATTATAAATTATTTAAATCCGTGTAATAGCCAATATAGTGGATAAAATATATCAATGACACTTTAAAAATAGATGCTTTCATCATCCTGAGATATTGCATTAGTCCATTTATGTTTACTGTTTCTTGGGCACATAGAGCTGATTGGGACGCATCTAGAAATAAATTACTTATTAATTTTTTTAAATGGCAAGTGATCAAGCCACTTAAGGAAGTGGCCAAGTGACAGAATA... |
Task1_train_10412 | This genomic variant is located on Chromosome 6, within the RUNX2 (RUNX family transcription factor 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not provided | TGTAACTAGTTTAGACTCCTGGCTGGTTTATTCTTCTGGTTAGTCTTAACGCTTATAATAAAGCCTCTCTTTGCTAACCAATTATAAATTATTTAAATCCGTGTAATAGCCAATATAGTGGATAAAATATATCAATGACACTTTAAAAATAGATGCTTTCATCATCCTGAGATATTGCATTAGTCCATTTATGTTTACTGTTTCTTGGGCACATAGAGCTGATTGGGACGCATCTAGAAATAAATTACTTATTAATTTTTTTAAATGGCAAGTGATCAAGCCACTTAAGGAAGTGGCCAAGTGACAGAATATTTAAAAAA... | TGTAACTAGTTTAGACTCCTGGCTGGTTTATTCTTCTGGTTAGTCTTAACGCTTATAATAAAGCCTCTCTTTGCTAACCAATTATAAATTATTTAAATCCGTGTAATAGCCAATATAGTGGATAAAATATATCAATGACACTTTAAAAATAGATGCTTTCATCATCCTGAGATATTGCATTAGTCCATTTATGTTTACTGTTTCTTGGGCACATAGAGCTGATTGGGACGCATCTAGAAATAAATTACTTATTAATTTTTTTAAATGGCAAGTGATCAAGCCACTTAAGGAAGTGGCCAAGTGACAGAATATTTAAAAAA... |
Task1_train_10413 | An alteration has been detected in RUNX2 (RUNX family transcription factor 2) on Chromosome 6. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Cleidocranial dysostosis | CTAGTTTAGACTCCTGGCTGGTTTATTCTTCTGGTTAGTCTTAACGCTTATAATAAAGCCTCTCTTTGCTAACCAATTATAAATTATTTAAATCCGTGTAATAGCCAATATAGTGGATAAAATATATCAATGACACTTTAAAAATAGATGCTTTCATCATCCTGAGATATTGCATTAGTCCATTTATGTTTACTGTTTCTTGGGCACATAGAGCTGATTGGGACGCATCTAGAAATAAATTACTTATTAATTTTTTTAAATGGCAAGTGATCAAGCCACTTAAGGAAGTGGCCAAGTGACAGAATATTTAAAAAAAAAAG... | CTAGTTTAGACTCCTGGCTGGTTTATTCTTCTGGTTAGTCTTAACGCTTATAATAAAGCCTCTCTTTGCTAACCAATTATAAATTATTTAAATCCGTGTAATAGCCAATATAGTGGATAAAATATATCAATGACACTTTAAAAATAGATGCTTTCATCATCCTGAGATATTGCATTAGTCCATTTATGTTTACTGTTTCTTGGGCACATAGAGCTGATTGGGACGCATCTAGAAATAAATTACTTATTAATTTTTTTAAATGGCAAGTGATCAAGCCACTTAAGGAAGTGGCCAAGTGACAGAATATTTAAAAAAAAAAG... |
Task1_train_10414 | The gene RUNX2 (RUNX family transcription factor 2) on Chromosome 6 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Cleidocranial dysostosis | TAGTTTAGACTCCTGGCTGGTTTATTCTTCTGGTTAGTCTTAACGCTTATAATAAAGCCTCTCTTTGCTAACCAATTATAAATTATTTAAATCCGTGTAATAGCCAATATAGTGGATAAAATATATCAATGACACTTTAAAAATAGATGCTTTCATCATCCTGAGATATTGCATTAGTCCATTTATGTTTACTGTTTCTTGGGCACATAGAGCTGATTGGGACGCATCTAGAAATAAATTACTTATTAATTTTTTTAAATGGCAAGTGATCAAGCCACTTAAGGAAGTGGCCAAGTGACAGAATATTTAAAAAAAAAAGA... | TAGTTTAGACTCCTGGCTGGTTTATTCTTCTGGTTAGTCTTAACGCTTATAATAAAGCCTCTCTTTGCTAACCAATTATAAATTATTTAAATCCGTGTAATAGCCAATATAGTGGATAAAATATATCAATGACACTTTAAAAATAGATGCTTTCATCATCCTGAGATATTGCATTAGTCCATTTATGTTTACTGTTTCTTGGGCACATAGAGCTGATTGGGACGCATCTAGAAATAAATTACTTATTAATTTTTTTAAATGGCAAGTGATCAAGCCACTTAAGGAAGTGGCCAAGTGACAGAATATTTAAAAAAAAAAGA... |
Task1_train_10415 | The variant affects gene RUNX2 (RUNX family transcription factor 2), which is on Chromosome 6. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome | TAGTTTAGACTCCTGGCTGGTTTATTCTTCTGGTTAGTCTTAACGCTTATAATAAAGCCTCTCTTTGCTAACCAATTATAAATTATTTAAATCCGTGTAATAGCCAATATAGTGGATAAAATATATCAATGACACTTTAAAAATAGATGCTTTCATCATCCTGAGATATTGCATTAGTCCATTTATGTTTACTGTTTCTTGGGCACATAGAGCTGATTGGGACGCATCTAGAAATAAATTACTTATTAATTTTTTTAAATGGCAAGTGATCAAGCCACTTAAGGAAGTGGCCAAGTGACAGAATATTTAAAAAAAAAAGA... | TAGTTTAGACTCCTGGCTGGTTTATTCTTCTGGTTAGTCTTAACGCTTATAATAAAGCCTCTCTTTGCTAACCAATTATAAATTATTTAAATCCGTGTAATAGCCAATATAGTGGATAAAATATATCAATGACACTTTAAAAATAGATGCTTTCATCATCCTGAGATATTGCATTAGTCCATTTATGTTTACTGTTTCTTGGGCACATAGAGCTGATTGGGACGCATCTAGAAATAAATTACTTATTAATTTTTTTAAATGGCAAGTGATCAAGCCACTTAAGGAAGTGGCCAAGTGACAGAATATTTAAAAAAAAAAGA... |
Task1_train_10416 | Given this context: Chromosome 6, gene RUNX2 (RUNX family transcription factor 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Cleidocranial dysostosis | TAGTTTAGACTCCTGGCTGGTTTATTCTTCTGGTTAGTCTTAACGCTTATAATAAAGCCTCTCTTTGCTAACCAATTATAAATTATTTAAATCCGTGTAATAGCCAATATAGTGGATAAAATATATCAATGACACTTTAAAAATAGATGCTTTCATCATCCTGAGATATTGCATTAGTCCATTTATGTTTACTGTTTCTTGGGCACATAGAGCTGATTGGGACGCATCTAGAAATAAATTACTTATTAATTTTTTTAAATGGCAAGTGATCAAGCCACTTAAGGAAGTGGCCAAGTGACAGAATATTTAAAAAAAAAAGA... | TAGTTTAGACTCCTGGCTGGTTTATTCTTCTGGTTAGTCTTAACGCTTATAATAAAGCCTCTCTTTGCTAACCAATTATAAATTATTTAAATCCGTGTAATAGCCAATATAGTGGATAAAATATATCAATGACACTTTAAAAATAGATGCTTTCATCATCCTGAGATATTGCATTAGTCCATTTATGTTTACTGTTTCTTGGGCACATAGAGCTGATTGGGACGCATCTAGAAATAAATTACTTATTAATTTTTTTAAATGGCAAGTGATCAAGCCACTTAAGGAAGTGGCCAAGTGACAGAATATTTAAAAAAAAAAGA... |
Task1_train_10417 | A sequence alteration has been identified in RUNX2 (RUNX family transcription factor 2) on Chromosome 6. Is it disease-inducing or harmless? | Pathogenic; not provided | CAGGAAGATGTAGGCACATACCATTTTGAAACTCTTCGCACCAAGTGATCTAGTGTTGGCTATAGCACTCTCAACTTCTCCACTGTTCAGCAAAGCCTAATAGCCGAATGTACTTTGTATATGGAGGAGATAACATGGATAACAGCAAAAAGAATGGACTTGTGCAAGTTGTTCCTTGCTATTTTAAAAAGGTCCCCAAACCACCTTTGGCTTTATCTATCCAGTAAGTTGTAGTCATGAGTTTTAAACTGGCTCTTGGGAGCTCTGAGCGTACCAGGCATATCACTGGGGGAGTGGCTGAGCTTTGGTTTTATATTTAG... | CAGGAAGATGTAGGCACATACCATTTTGAAACTCTTCGCACCAAGTGATCTAGTGTTGGCTATAGCACTCTCAACTTCTCCACTGTTCAGCAAAGCCTAATAGCCGAATGTACTTTGTATATGGAGGAGATAACATGGATAACAGCAAAAAGAATGGACTTGTGCAAGTTGTTCCTTGCTATTTTAAAAAGGTCCCCAAACCACCTTTGGCTTTATCTATCCAGTAAGTTGTAGTCATGAGTTTTAAACTGGCTCTTGGGAGCTCTGAGCGTACCAGGCATATCACTGGGGGAGTGGCTGAGCTTTGGTTTTATATTTAG... |
Task1_train_10418 | A variant was discovered in gene MMUT (methylmalonyl-CoA mutase), Chromosome 6. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Methylmalonic acidemia | TTTTGGTTGTGCTGGAATCTTCTATTTTGAATCAGATGTTTTCGATGAAAGGAAATGAGGAAAGTAGTTGTCTTCCTGATCCATTAATTATTTTCTTGTACTATTTGGTGAATATCGGATAGCTTATCTGTATAAAATATCTATCCACTTTTTTAATATACTTGGTTATTTTCCTGATCATTTCCAAAAGTCAGCTCATTGTTGGGCATACAAGTTTTCATCCAAAAATAAGGATAGTAATAAAGGTCGGATGAAATTTCTTTTGGAATCTTTTGGAATCTAAATAACACTAAAGTGTTTAAGTTTTAACACTTTCTCGA... | TTTTGGTTGTGCTGGAATCTTCTATTTTGAATCAGATGTTTTCGATGAAAGGAAATGAGGAAAGTAGTTGTCTTCCTGATCCATTAATTATTTTCTTGTACTATTTGGTGAATATCGGATAGCTTATCTGTATAAAATATCTATCCACTTTTTTAATATACTTGGTTATTTTCCTGATCATTTCCAAAAGTCAGCTCATTGTTGGGCATACAAGTTTTCATCCAAAAATAAGGATAGTAATAAAGGTCGGATGAAATTTCTTTTGGAATCTTTTGGAATCTAAATAACACTAAAGTGTTTAAGTTTTAACACTTTCTCGA... |
Task1_train_10419 | The variant affects gene MMUT (methylmalonyl-CoA mutase), which is on Chromosome 6. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | TTTTGGTTGTGCTGGAATCTTCTATTTTGAATCAGATGTTTTCGATGAAAGGAAATGAGGAAAGTAGTTGTCTTCCTGATCCATTAATTATTTTCTTGTACTATTTGGTGAATATCGGATAGCTTATCTGTATAAAATATCTATCCACTTTTTTAATATACTTGGTTATTTTCCTGATCATTTCCAAAAGTCAGCTCATTGTTGGGCATACAAGTTTTCATCCAAAAATAAGGATAGTAATAAAGGTCGGATGAAATTTCTTTTGGAATCTTTTGGAATCTAAATAACACTAAAGTGTTTAAGTTTTAACACTTTCTCGA... | TTTTGGTTGTGCTGGAATCTTCTATTTTGAATCAGATGTTTTCGATGAAAGGAAATGAGGAAAGTAGTTGTCTTCCTGATCCATTAATTATTTTCTTGTACTATTTGGTGAATATCGGATAGCTTATCTGTATAAAATATCTATCCACTTTTTTAATATACTTGGTTATTTTCCTGATCATTTCCAAAAGTCAGCTCATTGTTGGGCATACAAGTTTTCATCCAAAAATAAGGATAGTAATAAAGGTCGGATGAAATTTCTTTTGGAATCTTTTGGAATCTAAATAACACTAAAGTGTTTAAGTTTTAACACTTTCTCGA... |
Task1_train_10420 | A variant on Chromosome 6 in gene MMUT (methylmalonyl-CoA mutase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | TATACAGATATTTTTTGTACTATTTTTATTTTTGCAACTTATCTGTTAGTTTGAAATTATTTCCAAATAAAAATATATGTTTGAATGTCCTCCACTTAGCTGGGCCAGGGATAGCACAGTGCCTGCTTCATGATGGAAGCAGGCATTGTGAGTCTACTCAACTTGCTGAAAAAACTTGGAGGCGACTGCTGCTAAGAGAGTTAGAAAATACTGATCGTAGTAACATACTGATGAGGAGAGACCACGTTTATTCATTTAATCAGACTGCAGAAACTGTTAAGCTCCACATGGCAGAAGCTGTATCTGTTTGATTAGCCACT... | TATACAGATATTTTTTGTACTATTTTTATTTTTGCAACTTATCTGTTAGTTTGAAATTATTTCCAAATAAAAATATATGTTTGAATGTCCTCCACTTAGCTGGGCCAGGGATAGCACAGTGCCTGCTTCATGATGGAAGCAGGCATTGTGAGTCTACTCAACTTGCTGAAAAAACTTGGAGGCGACTGCTGCTAAGAGAGTTAGAAAATACTGATCGTAGTAACATACTGATGAGGAGAGACCACGTTTATTCATTTAATCAGACTGCAGAAACTGTTAAGCTCCACATGGCAGAAGCTGTATCTGTTTGATTAGCCACT... |
Task1_train_10421 | Consider a variant on Chromosome 6 in gene MMUT (methylmalonyl-CoA mutase). Determine its clinical classification and disease relevance. | Pathogenic; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | ATTTTTGCAACTTATCTGTTAGTTTGAAATTATTTCCAAATAAAAATATATGTTTGAATGTCCTCCACTTAGCTGGGCCAGGGATAGCACAGTGCCTGCTTCATGATGGAAGCAGGCATTGTGAGTCTACTCAACTTGCTGAAAAAACTTGGAGGCGACTGCTGCTAAGAGAGTTAGAAAATACTGATCGTAGTAACATACTGATGAGGAGAGACCACGTTTATTCATTTAATCAGACTGCAGAAACTGTTAAGCTCCACATGGCAGAAGCTGTATCTGTTTGATTAGCCACTAGATATTAGTGCCTTCTAATTTAAAAC... | ATTTTTGCAACTTATCTGTTAGTTTGAAATTATTTCCAAATAAAAATATATGTTTGAATGTCCTCCACTTAGCTGGGCCAGGGATAGCACAGTGCCTGCTTCATGATGGAAGCAGGCATTGTGAGTCTACTCAACTTGCTGAAAAAACTTGGAGGCGACTGCTGCTAAGAGAGTTAGAAAATACTGATCGTAGTAACATACTGATGAGGAGAGACCACGTTTATTCATTTAATCAGACTGCAGAAACTGTTAAGCTCCACATGGCAGAAGCTGTATCTGTTTGATTAGCCACTAGATATTAGTGCCTTCTAATTTAAAAC... |
Task1_train_10422 | Located on Chromosome 6, this mutation impacts MMUT (methylmalonyl-CoA mutase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Methylmalonic aciduria | ATTTTTGCAACTTATCTGTTAGTTTGAAATTATTTCCAAATAAAAATATATGTTTGAATGTCCTCCACTTAGCTGGGCCAGGGATAGCACAGTGCCTGCTTCATGATGGAAGCAGGCATTGTGAGTCTACTCAACTTGCTGAAAAAACTTGGAGGCGACTGCTGCTAAGAGAGTTAGAAAATACTGATCGTAGTAACATACTGATGAGGAGAGACCACGTTTATTCATTTAATCAGACTGCAGAAACTGTTAAGCTCCACATGGCAGAAGCTGTATCTGTTTGATTAGCCACTAGATATTAGTGCCTTCTAATTTAAAAC... | ATTTTTGCAACTTATCTGTTAGTTTGAAATTATTTCCAAATAAAAATATATGTTTGAATGTCCTCCACTTAGCTGGGCCAGGGATAGCACAGTGCCTGCTTCATGATGGAAGCAGGCATTGTGAGTCTACTCAACTTGCTGAAAAAACTTGGAGGCGACTGCTGCTAAGAGAGTTAGAAAATACTGATCGTAGTAACATACTGATGAGGAGAGACCACGTTTATTCATTTAATCAGACTGCAGAAACTGTTAAGCTCCACATGGCAGAAGCTGTATCTGTTTGATTAGCCACTAGATATTAGTGCCTTCTAATTTAAAAC... |
Task1_train_10423 | Here’s a variant in MMUT (methylmalonyl-CoA mutase) located on Chromosome 6. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Methylmalonic acidemia | ATTTTTGCAACTTATCTGTTAGTTTGAAATTATTTCCAAATAAAAATATATGTTTGAATGTCCTCCACTTAGCTGGGCCAGGGATAGCACAGTGCCTGCTTCATGATGGAAGCAGGCATTGTGAGTCTACTCAACTTGCTGAAAAAACTTGGAGGCGACTGCTGCTAAGAGAGTTAGAAAATACTGATCGTAGTAACATACTGATGAGGAGAGACCACGTTTATTCATTTAATCAGACTGCAGAAACTGTTAAGCTCCACATGGCAGAAGCTGTATCTGTTTGATTAGCCACTAGATATTAGTGCCTTCTAATTTAAAAC... | ATTTTTGCAACTTATCTGTTAGTTTGAAATTATTTCCAAATAAAAATATATGTTTGAATGTCCTCCACTTAGCTGGGCCAGGGATAGCACAGTGCCTGCTTCATGATGGAAGCAGGCATTGTGAGTCTACTCAACTTGCTGAAAAAACTTGGAGGCGACTGCTGCTAAGAGAGTTAGAAAATACTGATCGTAGTAACATACTGATGAGGAGAGACCACGTTTATTCATTTAATCAGACTGCAGAAACTGTTAAGCTCCACATGGCAGAAGCTGTATCTGTTTGATTAGCCACTAGATATTAGTGCCTTCTAATTTAAAAC... |
Task1_train_10424 | Given a variant located on Chromosome 6 and affecting MMUT (methylmalonyl-CoA mutase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | TGTAGTAGAGAAGGCTTTTCATATAAAATTATTACAATGTACTTTCTAGTCAAATTTTTTTGTATTATCATTCTATGGAAAATGTCAGTGTAATTTATCTCCTGCAAACTATTTTCCTGTCTAAGTCTAATATTCTGTGACTAAGTAACATATTAGTAGAGAGTTAAAAAAAGACAACAAAAATAAACGAAAATAACCTTACTTATGAATTGAGTTTATATTGCTATTTGATTTCTTTTTCAAAACACTTTTCACCAATCCCATGTGGGCTATCTTTCCCACAAAATATTAGTCAAATCTCAATAAAGAGTACAATAAGA... | TGTAGTAGAGAAGGCTTTTCATATAAAATTATTACAATGTACTTTCTAGTCAAATTTTTTTGTATTATCATTCTATGGAAAATGTCAGTGTAATTTATCTCCTGCAAACTATTTTCCTGTCTAAGTCTAATATTCTGTGACTAAGTAACATATTAGTAGAGAGTTAAAAAAAGACAACAAAAATAAACGAAAATAACCTTACTTATGAATTGAGTTTATATTGCTATTTGATTTCTTTTTCAAAACACTTTTCACCAATCCCATGTGGGCTATCTTTCCCACAAAATATTAGTCAAATCTCAATAAAGAGTACAATAAGA... |
Task1_train_10425 | Gene MMUT (methylmalonyl-CoA mutase) on Chromosome 6 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; not provided | CAATGTACTTTCTAGTCAAATTTTTTTGTATTATCATTCTATGGAAAATGTCAGTGTAATTTATCTCCTGCAAACTATTTTCCTGTCTAAGTCTAATATTCTGTGACTAAGTAACATATTAGTAGAGAGTTAAAAAAAGACAACAAAAATAAACGAAAATAACCTTACTTATGAATTGAGTTTATATTGCTATTTGATTTCTTTTTCAAAACACTTTTCACCAATCCCATGTGGGCTATCTTTCCCACAAAATATTAGTCAAATCTCAATAAAGAGTACAATAAGATCTTTGAAAGTAATCTTCATAGTTCCAGAGGCAT... | CAATGTACTTTCTAGTCAAATTTTTTTGTATTATCATTCTATGGAAAATGTCAGTGTAATTTATCTCCTGCAAACTATTTTCCTGTCTAAGTCTAATATTCTGTGACTAAGTAACATATTAGTAGAGAGTTAAAAAAAGACAACAAAAATAAACGAAAATAACCTTACTTATGAATTGAGTTTATATTGCTATTTGATTTCTTTTTCAAAACACTTTTCACCAATCCCATGTGGGCTATCTTTCCCACAAAATATTAGTCAAATCTCAATAAAGAGTACAATAAGATCTTTGAAAGTAATCTTCATAGTTCCAGAGGCAT... |
Task1_train_10426 | This mutation occurs in MMUT (methylmalonyl-CoA mutase) on Chromosome 6. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Methylmalonic acidemia | TTTGTATTATCATTCTATGGAAAATGTCAGTGTAATTTATCTCCTGCAAACTATTTTCCTGTCTAAGTCTAATATTCTGTGACTAAGTAACATATTAGTAGAGAGTTAAAAAAAGACAACAAAAATAAACGAAAATAACCTTACTTATGAATTGAGTTTATATTGCTATTTGATTTCTTTTTCAAAACACTTTTCACCAATCCCATGTGGGCTATCTTTCCCACAAAATATTAGTCAAATCTCAATAAAGAGTACAATAAGATCTTTGAAAGTAATCTTCATAGTTCCAGAGGCATAATCAGTTTTAGTTCTGAACTGAC... | TTTGTATTATCATTCTATGGAAAATGTCAGTGTAATTTATCTCCTGCAAACTATTTTCCTGTCTAAGTCTAATATTCTGTGACTAAGTAACATATTAGTAGAGAGTTAAAAAAAGACAACAAAAATAAACGAAAATAACCTTACTTATGAATTGAGTTTATATTGCTATTTGATTTCTTTTTCAAAACACTTTTCACCAATCCCATGTGGGCTATCTTTCCCACAAAATATTAGTCAAATCTCAATAAAGAGTACAATAAGATCTTTGAAAGTAATCTTCATAGTTCCAGAGGCATAATCAGTTTTAGTTCTGAACTGAC... |
Task1_train_10427 | This variant impacts the gene MMUT (methylmalonyl-CoA mutase) on Chromosome 6. Is the change likely to result in a pathogenic outcome? | Pathogenic; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | ATTCTATGGAAAATGTCAGTGTAATTTATCTCCTGCAAACTATTTTCCTGTCTAAGTCTAATATTCTGTGACTAAGTAACATATTAGTAGAGAGTTAAAAAAAGACAACAAAAATAAACGAAAATAACCTTACTTATGAATTGAGTTTATATTGCTATTTGATTTCTTTTTCAAAACACTTTTCACCAATCCCATGTGGGCTATCTTTCCCACAAAATATTAGTCAAATCTCAATAAAGAGTACAATAAGATCTTTGAAAGTAATCTTCATAGTTCCAGAGGCATAATCAGTTTTAGTTCTGAACTGACACTTTTAAAAG... | ATTCTATGGAAAATGTCAGTGTAATTTATCTCCTGCAAACTATTTTCCTGTCTAAGTCTAATATTCTGTGACTAAGTAACATATTAGTAGAGAGTTAAAAAAAGACAACAAAAATAAACGAAAATAACCTTACTTATGAATTGAGTTTATATTGCTATTTGATTTCTTTTTCAAAACACTTTTCACCAATCCCATGTGGGCTATCTTTCCCACAAAATATTAGTCAAATCTCAATAAAGAGTACAATAAGATCTTTGAAAGTAATCTTCATAGTTCCAGAGGCATAATCAGTTTTAGTTCTGAACTGACACTTTTAAAAG... |
Task1_train_10428 | A mutation on Chromosome 6 affecting MMUT (methylmalonyl-CoA mutase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | ATTCTATGGAAAATGTCAGTGTAATTTATCTCCTGCAAACTATTTTCCTGTCTAAGTCTAATATTCTGTGACTAAGTAACATATTAGTAGAGAGTTAAAAAAAGACAACAAAAATAAACGAAAATAACCTTACTTATGAATTGAGTTTATATTGCTATTTGATTTCTTTTTCAAAACACTTTTCACCAATCCCATGTGGGCTATCTTTCCCACAAAATATTAGTCAAATCTCAATAAAGAGTACAATAAGATCTTTGAAAGTAATCTTCATAGTTCCAGAGGCATAATCAGTTTTAGTTCTGAACTGACACTTTTAAAAG... | ATTCTATGGAAAATGTCAGTGTAATTTATCTCCTGCAAACTATTTTCCTGTCTAAGTCTAATATTCTGTGACTAAGTAACATATTAGTAGAGAGTTAAAAAAAGACAACAAAAATAAACGAAAATAACCTTACTTATGAATTGAGTTTATATTGCTATTTGATTTCTTTTTCAAAACACTTTTCACCAATCCCATGTGGGCTATCTTTCCCACAAAATATTAGTCAAATCTCAATAAAGAGTACAATAAGATCTTTGAAAGTAATCTTCATAGTTCCAGAGGCATAATCAGTTTTAGTTCTGAACTGACACTTTTAAAAG... |
Task1_train_10429 | Here’s a variant in MMUT (methylmalonyl-CoA mutase) located on Chromosome 6. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | CTATGGAAAATGTCAGTGTAATTTATCTCCTGCAAACTATTTTCCTGTCTAAGTCTAATATTCTGTGACTAAGTAACATATTAGTAGAGAGTTAAAAAAAGACAACAAAAATAAACGAAAATAACCTTACTTATGAATTGAGTTTATATTGCTATTTGATTTCTTTTTCAAAACACTTTTCACCAATCCCATGTGGGCTATCTTTCCCACAAAATATTAGTCAAATCTCAATAAAGAGTACAATAAGATCTTTGAAAGTAATCTTCATAGTTCCAGAGGCATAATCAGTTTTAGTTCTGAACTGACACTTTTAAAAGTCT... | CTATGGAAAATGTCAGTGTAATTTATCTCCTGCAAACTATTTTCCTGTCTAAGTCTAATATTCTGTGACTAAGTAACATATTAGTAGAGAGTTAAAAAAAGACAACAAAAATAAACGAAAATAACCTTACTTATGAATTGAGTTTATATTGCTATTTGATTTCTTTTTCAAAACACTTTTCACCAATCCCATGTGGGCTATCTTTCCCACAAAATATTAGTCAAATCTCAATAAAGAGTACAATAAGATCTTTGAAAGTAATCTTCATAGTTCCAGAGGCATAATCAGTTTTAGTTCTGAACTGACACTTTTAAAAGTCT... |
Task1_train_10430 | This sequence change occurs on Chromosome 6, altering MMUT (methylmalonyl-CoA mutase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Methylmalonic acidemia | GGAAAATGTCAGTGTAATTTATCTCCTGCAAACTATTTTCCTGTCTAAGTCTAATATTCTGTGACTAAGTAACATATTAGTAGAGAGTTAAAAAAAGACAACAAAAATAAACGAAAATAACCTTACTTATGAATTGAGTTTATATTGCTATTTGATTTCTTTTTCAAAACACTTTTCACCAATCCCATGTGGGCTATCTTTCCCACAAAATATTAGTCAAATCTCAATAAAGAGTACAATAAGATCTTTGAAAGTAATCTTCATAGTTCCAGAGGCATAATCAGTTTTAGTTCTGAACTGACACTTTTAAAAGTCTGAAA... | GGAAAATGTCAGTGTAATTTATCTCCTGCAAACTATTTTCCTGTCTAAGTCTAATATTCTGTGACTAAGTAACATATTAGTAGAGAGTTAAAAAAAGACAACAAAAATAAACGAAAATAACCTTACTTATGAATTGAGTTTATATTGCTATTTGATTTCTTTTTCAAAACACTTTTCACCAATCCCATGTGGGCTATCTTTCCCACAAAATATTAGTCAAATCTCAATAAAGAGTACAATAAGATCTTTGAAAGTAATCTTCATAGTTCCAGAGGCATAATCAGTTTTAGTTCTGAACTGACACTTTTAAAAGTCTGAAA... |
Task1_train_10431 | This alteration occurs within gene MMUT (methylmalonyl-CoA mutase) located on Chromosome 6. Is it associated with a disease or is it a benign variant? | Pathogenic; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | TAATTTATCTCCTGCAAACTATTTTCCTGTCTAAGTCTAATATTCTGTGACTAAGTAACATATTAGTAGAGAGTTAAAAAAAGACAACAAAAATAAACGAAAATAACCTTACTTATGAATTGAGTTTATATTGCTATTTGATTTCTTTTTCAAAACACTTTTCACCAATCCCATGTGGGCTATCTTTCCCACAAAATATTAGTCAAATCTCAATAAAGAGTACAATAAGATCTTTGAAAGTAATCTTCATAGTTCCAGAGGCATAATCAGTTTTAGTTCTGAACTGACACTTTTAAAAGTCTGAAAGATTAATTATATTT... | TAATTTATCTCCTGCAAACTATTTTCCTGTCTAAGTCTAATATTCTGTGACTAAGTAACATATTAGTAGAGAGTTAAAAAAAGACAACAAAAATAAACGAAAATAACCTTACTTATGAATTGAGTTTATATTGCTATTTGATTTCTTTTTCAAAACACTTTTCACCAATCCCATGTGGGCTATCTTTCCCACAAAATATTAGTCAAATCTCAATAAAGAGTACAATAAGATCTTTGAAAGTAATCTTCATAGTTCCAGAGGCATAATCAGTTTTAGTTCTGAACTGACACTTTTAAAAGTCTGAAAGATTAATTATATTT... |
Task1_train_10432 | This mutation is located in gene MMUT (methylmalonyl-CoA mutase) on Chromosome 6. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | TCCTGCAAACTATTTTCCTGTCTAAGTCTAATATTCTGTGACTAAGTAACATATTAGTAGAGAGTTAAAAAAAGACAACAAAAATAAACGAAAATAACCTTACTTATGAATTGAGTTTATATTGCTATTTGATTTCTTTTTCAAAACACTTTTCACCAATCCCATGTGGGCTATCTTTCCCACAAAATATTAGTCAAATCTCAATAAAGAGTACAATAAGATCTTTGAAAGTAATCTTCATAGTTCCAGAGGCATAATCAGTTTTAGTTCTGAACTGACACTTTTAAAAGTCTGAAAGATTAATTATATTTTATTTTTAT... | TCCTGCAAACTATTTTCCTGTCTAAGTCTAATATTCTGTGACTAAGTAACATATTAGTAGAGAGTTAAAAAAAGACAACAAAAATAAACGAAAATAACCTTACTTATGAATTGAGTTTATATTGCTATTTGATTTCTTTTTCAAAACACTTTTCACCAATCCCATGTGGGCTATCTTTCCCACAAAATATTAGTCAAATCTCAATAAAGAGTACAATAAGATCTTTGAAAGTAATCTTCATAGTTCCAGAGGCATAATCAGTTTTAGTTCTGAACTGACACTTTTAAAAGTCTGAAAGATTAATTATATTTTATTTTTAT... |
Task1_train_10433 | This sequence variant lies in MMUT (methylmalonyl-CoA mutase) on Chromosome 6. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | CCTGCAAACTATTTTCCTGTCTAAGTCTAATATTCTGTGACTAAGTAACATATTAGTAGAGAGTTAAAAAAAGACAACAAAAATAAACGAAAATAACCTTACTTATGAATTGAGTTTATATTGCTATTTGATTTCTTTTTCAAAACACTTTTCACCAATCCCATGTGGGCTATCTTTCCCACAAAATATTAGTCAAATCTCAATAAAGAGTACAATAAGATCTTTGAAAGTAATCTTCATAGTTCCAGAGGCATAATCAGTTTTAGTTCTGAACTGACACTTTTAAAAGTCTGAAAGATTAATTATATTTTATTTTTATT... | CCTGCAAACTATTTTCCTGTCTAAGTCTAATATTCTGTGACTAAGTAACATATTAGTAGAGAGTTAAAAAAAGACAACAAAAATAAACGAAAATAACCTTACTTATGAATTGAGTTTATATTGCTATTTGATTTCTTTTTCAAAACACTTTTCACCAATCCCATGTGGGCTATCTTTCCCACAAAATATTAGTCAAATCTCAATAAAGAGTACAATAAGATCTTTGAAAGTAATCTTCATAGTTCCAGAGGCATAATCAGTTTTAGTTCTGAACTGACACTTTTAAAAGTCTGAAAGATTAATTATATTTTATTTTTATT... |
Task1_train_10434 | This gene mutation involves MMUT (methylmalonyl-CoA mutase) on Chromosome 6. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | TTCCCATCCTCTGGCATGCAACTGTCTCACCAATAAGTCCAGTATGTTTGCTACTTCTTGCTCACTGGATTTAATCAGTATAATGTCATCAATTAATGGACCAGTGTGATATCTTGCAGAAGTGAAAAGTGATCAAGGTCTCTCCGAATAAGATTATGACAAAGCCAGAGAGTTAATAAACCCCTGCAGTAGGACAGTAAAGGTATATTGCTGGCCTTGCCAGCTGAAGGCAAATTGCTTCTGGTGGGCCTTATGGGCAGGAATGGAGAGAAAGGCATTTGCCAAGTCAGTGGCTACATACCAGTTACCAGGAGATGTAT... | TTCCCATCCTCTGGCATGCAACTGTCTCACCAATAAGTCCAGTATGTTTGCTACTTCTTGCTCACTGGATTTAATCAGTATAATGTCATCAATTAATGGACCAGTGTGATATCTTGCAGAAGTGAAAAGTGATCAAGGTCTCTCCGAATAAGATTATGACAAAGCCAGAGAGTTAATAAACCCCTGCAGTAGGACAGTAAAGGTATATTGCTGGCCTTGCCAGCTGAAGGCAAATTGCTTCTGGTGGGCCTTATGGGCAGGAATGGAGAGAAAGGCATTTGCCAAGTCAGTGGCTACATACCAGTTACCAGGAGATGTAT... |
Task1_train_10435 | This variant affects gene MMUT (methylmalonyl-CoA mutase) located on Chromosome 6. Evaluate its biological effect and specify any disease association. | Pathogenic; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | GAACCATTTTAAAGTTATTGAAGATGTGAAGATATGACTTTTGAACTAAGATATAAATTATAAAAAGGGGGATCCCAAGGGAACATAAAACAGTAAGAGTGTTTGAAAAAGGAAGCACTAAAAGCAAAGGCTCTGAGATGTAGGAAAATATGTTTTATGTTCTAAAAATAGAAAGAAGGGCATTAGGAACACGGCATAGTGAGGAAAGTGGTATAAGATGAGGTCAGAGAGATGGGCAAGAGTCACATCTAGCACATCTTGCAGACTATCGGAAGATTAGGTTTGAATATAAAAGGAATGGGCAACCATCAAAGGACTTT... | GAACCATTTTAAAGTTATTGAAGATGTGAAGATATGACTTTTGAACTAAGATATAAATTATAAAAAGGGGGATCCCAAGGGAACATAAAACAGTAAGAGTGTTTGAAAAAGGAAGCACTAAAAGCAAAGGCTCTGAGATGTAGGAAAATATGTTTTATGTTCTAAAAATAGAAAGAAGGGCATTAGGAACACGGCATAGTGAGGAAAGTGGTATAAGATGAGGTCAGAGAGATGGGCAAGAGTCACATCTAGCACATCTTGCAGACTATCGGAAGATTAGGTTTGAATATAAAAGGAATGGGCAACCATCAAAGGACTTT... |
Task1_train_10436 | This genomic variant is located on Chromosome 6, within the MMUT (methylmalonyl-CoA mutase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Methylmalonic acidemia | AATCTATATTGGATTCTACGTAAGTGTAAAATGAGAAGCTAAAAAGAAGAAGACAATTTGAGAGTCTGCAACCACCCCTCTCTCATTCTGTCAGGAGAACCAAAGTTTACTGTCTACAGAAAATGAACTCGAGACACAATGAACTATCAAATACCAAATACAGACAGAAGTAAGGGTAAGATGTCTTACTGAAATAAAAGCCTGTACTCTGACTAAAGACTAAAAACAAAAAGCACAGAGAGAAAATGGAGACAATACAGGATGTAAAAGAAAACTTCAGAAAATATCATGAATTCAGAATATAAATGGATTCTGTACTA... | AATCTATATTGGATTCTACGTAAGTGTAAAATGAGAAGCTAAAAAGAAGAAGACAATTTGAGAGTCTGCAACCACCCCTCTCTCATTCTGTCAGGAGAACCAAAGTTTACTGTCTACAGAAAATGAACTCGAGACACAATGAACTATCAAATACCAAATACAGACAGAAGTAAGGGTAAGATGTCTTACTGAAATAAAAGCCTGTACTCTGACTAAAGACTAAAAACAAAAAGCACAGAGAGAAAATGGAGACAATACAGGATGTAAAAGAAAACTTCAGAAAATATCATGAATTCAGAATATAAATGGATTCTGTACTA... |
Task1_train_10437 | This mutation occurs in MMUT (methylmalonyl-CoA mutase) on Chromosome 6. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | CTACGTAAGTGTAAAATGAGAAGCTAAAAAGAAGAAGACAATTTGAGAGTCTGCAACCACCCCTCTCTCATTCTGTCAGGAGAACCAAAGTTTACTGTCTACAGAAAATGAACTCGAGACACAATGAACTATCAAATACCAAATACAGACAGAAGTAAGGGTAAGATGTCTTACTGAAATAAAAGCCTGTACTCTGACTAAAGACTAAAAACAAAAAGCACAGAGAGAAAATGGAGACAATACAGGATGTAAAAGAAAACTTCAGAAAATATCATGAATTCAGAATATAAATGGATTCTGTACTAATGAAACAAATGAAG... | CTACGTAAGTGTAAAATGAGAAGCTAAAAAGAAGAAGACAATTTGAGAGTCTGCAACCACCCCTCTCTCATTCTGTCAGGAGAACCAAAGTTTACTGTCTACAGAAAATGAACTCGAGACACAATGAACTATCAAATACCAAATACAGACAGAAGTAAGGGTAAGATGTCTTACTGAAATAAAAGCCTGTACTCTGACTAAAGACTAAAAACAAAAAGCACAGAGAGAAAATGGAGACAATACAGGATGTAAAAGAAAACTTCAGAAAATATCATGAATTCAGAATATAAATGGATTCTGTACTAATGAAACAAATGAAG... |
Task1_train_10438 | Consider a variant on Chromosome 6 in gene MMUT (methylmalonyl-CoA mutase). Determine its clinical classification and disease relevance. | Pathogenic; Methylmalonic acidemia | CTACGTAAGTGTAAAATGAGAAGCTAAAAAGAAGAAGACAATTTGAGAGTCTGCAACCACCCCTCTCTCATTCTGTCAGGAGAACCAAAGTTTACTGTCTACAGAAAATGAACTCGAGACACAATGAACTATCAAATACCAAATACAGACAGAAGTAAGGGTAAGATGTCTTACTGAAATAAAAGCCTGTACTCTGACTAAAGACTAAAAACAAAAAGCACAGAGAGAAAATGGAGACAATACAGGATGTAAAAGAAAACTTCAGAAAATATCATGAATTCAGAATATAAATGGATTCTGTACTAATGAAACAAATGAAG... | CTACGTAAGTGTAAAATGAGAAGCTAAAAAGAAGAAGACAATTTGAGAGTCTGCAACCACCCCTCTCTCATTCTGTCAGGAGAACCAAAGTTTACTGTCTACAGAAAATGAACTCGAGACACAATGAACTATCAAATACCAAATACAGACAGAAGTAAGGGTAAGATGTCTTACTGAAATAAAAGCCTGTACTCTGACTAAAGACTAAAAACAAAAAGCACAGAGAGAAAATGGAGACAATACAGGATGTAAAAGAAAACTTCAGAAAATATCATGAATTCAGAATATAAATGGATTCTGTACTAATGAAACAAATGAAG... |
Task1_train_10439 | Located on Chromosome 6, this mutation impacts MMUT (methylmalonyl-CoA mutase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | CGTAAGTGTAAAATGAGAAGCTAAAAAGAAGAAGACAATTTGAGAGTCTGCAACCACCCCTCTCTCATTCTGTCAGGAGAACCAAAGTTTACTGTCTACAGAAAATGAACTCGAGACACAATGAACTATCAAATACCAAATACAGACAGAAGTAAGGGTAAGATGTCTTACTGAAATAAAAGCCTGTACTCTGACTAAAGACTAAAAACAAAAAGCACAGAGAGAAAATGGAGACAATACAGGATGTAAAAGAAAACTTCAGAAAATATCATGAATTCAGAATATAAATGGATTCTGTACTAATGAAACAAATGAAGATG... | CGTAAGTGTAAAATGAGAAGCTAAAAAGAAGAAGACAATTTGAGAGTCTGCAACCACCCCTCTCTCATTCTGTCAGGAGAACCAAAGTTTACTGTCTACAGAAAATGAACTCGAGACACAATGAACTATCAAATACCAAATACAGACAGAAGTAAGGGTAAGATGTCTTACTGAAATAAAAGCCTGTACTCTGACTAAAGACTAAAAACAAAAAGCACAGAGAGAAAATGGAGACAATACAGGATGTAAAAGAAAACTTCAGAAAATATCATGAATTCAGAATATAAATGGATTCTGTACTAATGAAACAAATGAAGATG... |
Task1_train_10440 | A mutation in MMUT (methylmalonyl-CoA mutase), located on Chromosome 6, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | AGACACAATGAACTATCAAATACCAAATACAGACAGAAGTAAGGGTAAGATGTCTTACTGAAATAAAAGCCTGTACTCTGACTAAAGACTAAAAACAAAAAGCACAGAGAGAAAATGGAGACAATACAGGATGTAAAAGAAAACTTCAGAAAATATCATGAATTCAGAATATAAATGGATTCTGTACTAATGAAACAAATGAAGATGACATTAATTATAAGGGGGAAATTAGAAAACAAAAATGAGCTCTACGAATCAAAAATATAATACATGAATGTAAAAATAAGTAGAAATATAAAGTTGACAAATCTTTAAGAACA... | AGACACAATGAACTATCAAATACCAAATACAGACAGAAGTAAGGGTAAGATGTCTTACTGAAATAAAAGCCTGTACTCTGACTAAAGACTAAAAACAAAAAGCACAGAGAGAAAATGGAGACAATACAGGATGTAAAAGAAAACTTCAGAAAATATCATGAATTCAGAATATAAATGGATTCTGTACTAATGAAACAAATGAAGATGACATTAATTATAAGGGGGAAATTAGAAAACAAAAATGAGCTCTACGAATCAAAAATATAATACATGAATGTAAAAATAAGTAGAAATATAAAGTTGACAAATCTTTAAGAACA... |
Task1_train_10441 | The following genetic variant occurs in MMUT (methylmalonyl-CoA mutase) on Chromosome 6. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Methylmalonic acidemia | TGAAATAAAAGCCTGTACTCTGACTAAAGACTAAAAACAAAAAGCACAGAGAGAAAATGGAGACAATACAGGATGTAAAAGAAAACTTCAGAAAATATCATGAATTCAGAATATAAATGGATTCTGTACTAATGAAACAAATGAAGATGACATTAATTATAAGGGGGAAATTAGAAAACAAAAATGAGCTCTACGAATCAAAAATATAATACATGAATGTAAAAATAAGTAGAAATATAAAGTTGACAAATCTTTAAGAACACAGAAAAAAAAGGCAAACAGATATACTATAGAAAAGATAAGAGCAGGCAGGGAGCAGT... | TGAAATAAAAGCCTGTACTCTGACTAAAGACTAAAAACAAAAAGCACAGAGAGAAAATGGAGACAATACAGGATGTAAAAGAAAACTTCAGAAAATATCATGAATTCAGAATATAAATGGATTCTGTACTAATGAAACAAATGAAGATGACATTAATTATAAGGGGGAAATTAGAAAACAAAAATGAGCTCTACGAATCAAAAATATAATACATGAATGTAAAAATAAGTAGAAATATAAAGTTGACAAATCTTTAAGAACACAGAAAAAAAAGGCAAACAGATATACTATAGAAAAGATAAGAGCAGGCAGGGAGCAGT... |
Task1_train_10442 | Given this context: Chromosome 6, gene MMUT (methylmalonyl-CoA mutase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | TGAAATAAAAGCCTGTACTCTGACTAAAGACTAAAAACAAAAAGCACAGAGAGAAAATGGAGACAATACAGGATGTAAAAGAAAACTTCAGAAAATATCATGAATTCAGAATATAAATGGATTCTGTACTAATGAAACAAATGAAGATGACATTAATTATAAGGGGGAAATTAGAAAACAAAAATGAGCTCTACGAATCAAAAATATAATACATGAATGTAAAAATAAGTAGAAATATAAAGTTGACAAATCTTTAAGAACACAGAAAAAAAAGGCAAACAGATATACTATAGAAAAGATAAGAGCAGGCAGGGAGCAGT... | TGAAATAAAAGCCTGTACTCTGACTAAAGACTAAAAACAAAAAGCACAGAGAGAAAATGGAGACAATACAGGATGTAAAAGAAAACTTCAGAAAATATCATGAATTCAGAATATAAATGGATTCTGTACTAATGAAACAAATGAAGATGACATTAATTATAAGGGGGAAATTAGAAAACAAAAATGAGCTCTACGAATCAAAAATATAATACATGAATGTAAAAATAAGTAGAAATATAAAGTTGACAAATCTTTAAGAACACAGAAAAAAAAGGCAAACAGATATACTATAGAAAAGATAAGAGCAGGCAGGGAGCAGT... |
Task1_train_10443 | Gene MMUT (methylmalonyl-CoA mutase), found on Chromosome 6, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | GAAATAAAAGCCTGTACTCTGACTAAAGACTAAAAACAAAAAGCACAGAGAGAAAATGGAGACAATACAGGATGTAAAAGAAAACTTCAGAAAATATCATGAATTCAGAATATAAATGGATTCTGTACTAATGAAACAAATGAAGATGACATTAATTATAAGGGGGAAATTAGAAAACAAAAATGAGCTCTACGAATCAAAAATATAATACATGAATGTAAAAATAAGTAGAAATATAAAGTTGACAAATCTTTAAGAACACAGAAAAAAAAGGCAAACAGATATACTATAGAAAAGATAAGAGCAGGCAGGGAGCAGTG... | GAAATAAAAGCCTGTACTCTGACTAAAGACTAAAAACAAAAAGCACAGAGAGAAAATGGAGACAATACAGGATGTAAAAGAAAACTTCAGAAAATATCATGAATTCAGAATATAAATGGATTCTGTACTAATGAAACAAATGAAGATGACATTAATTATAAGGGGGAAATTAGAAAACAAAAATGAGCTCTACGAATCAAAAATATAATACATGAATGTAAAAATAAGTAGAAATATAAAGTTGACAAATCTTTAAGAACACAGAAAAAAAAGGCAAACAGATATACTATAGAAAAGATAAGAGCAGGCAGGGAGCAGTG... |
Task1_train_10444 | Here is a variant affecting MMUT (methylmalonyl-CoA mutase) on Chromosome 6. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Methylmalonic acidemia | GAAATAAAAGCCTGTACTCTGACTAAAGACTAAAAACAAAAAGCACAGAGAGAAAATGGAGACAATACAGGATGTAAAAGAAAACTTCAGAAAATATCATGAATTCAGAATATAAATGGATTCTGTACTAATGAAACAAATGAAGATGACATTAATTATAAGGGGGAAATTAGAAAACAAAAATGAGCTCTACGAATCAAAAATATAATACATGAATGTAAAAATAAGTAGAAATATAAAGTTGACAAATCTTTAAGAACACAGAAAAAAAAGGCAAACAGATATACTATAGAAAAGATAAGAGCAGGCAGGGAGCAGTG... | GAAATAAAAGCCTGTACTCTGACTAAAGACTAAAAACAAAAAGCACAGAGAGAAAATGGAGACAATACAGGATGTAAAAGAAAACTTCAGAAAATATCATGAATTCAGAATATAAATGGATTCTGTACTAATGAAACAAATGAAGATGACATTAATTATAAGGGGGAAATTAGAAAACAAAAATGAGCTCTACGAATCAAAAATATAATACATGAATGTAAAAATAAGTAGAAATATAAAGTTGACAAATCTTTAAGAACACAGAAAAAAAAGGCAAACAGATATACTATAGAAAAGATAAGAGCAGGCAGGGAGCAGTG... |
Task1_train_10445 | Mutation context: Chromosome 6, Gene MMUT (methylmalonyl-CoA mutase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | CCTGGCAATTCGAGCACTTTTCACAGTTGGCAAACCCAAAGCTTCATCAAAAGAATTTGTGTGCAAAGACTGAGTCCCTCCAAATACTGCTGCCATTGCTTCTATTGCAGTACGGACAATATTATTGTAGGGATCCTAAAATATTTGATAAAAAACAAAAACTCAAAGAAACAGGTGATAGATATTGCAACTATAAACAGCAACATGATTAAACAGCAACTGCTGCATATTTTCTATGTCAATTTCCATATTAAGCTTCAGAATAGCAAATAAATTCAGACAAATTAGTTTAGAAGCCAAAATTAGAAGAGTCAGAGTTC... | CCTGGCAATTCGAGCACTTTTCACAGTTGGCAAACCCAAAGCTTCATCAAAAGAATTTGTGTGCAAAGACTGAGTCCCTCCAAATACTGCTGCCATTGCTTCTATTGCAGTACGGACAATATTATTGTAGGGATCCTAAAATATTTGATAAAAAACAAAAACTCAAAGAAACAGGTGATAGATATTGCAACTATAAACAGCAACATGATTAAACAGCAACTGCTGCATATTTTCTATGTCAATTTCCATATTAAGCTTCAGAATAGCAAATAAATTCAGACAAATTAGTTTAGAAGCCAAAATTAGAAGAGTCAGAGTTC... |
Task1_train_10446 | Consider a variant on Chromosome 6 in gene MMUT (methylmalonyl-CoA mutase). Determine its clinical classification and disease relevance. | Pathogenic; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | CAAAGACTGAGTCCCTCCAAATACTGCTGCCATTGCTTCTATTGCAGTACGGACAATATTATTGTAGGGATCCTAAAATATTTGATAAAAAACAAAAACTCAAAGAAACAGGTGATAGATATTGCAACTATAAACAGCAACATGATTAAACAGCAACTGCTGCATATTTTCTATGTCAATTTCCATATTAAGCTTCAGAATAGCAAATAAATTCAGACAAATTAGTTTAGAAGCCAAAATTAGAAGAGTCAGAGTTCAGTGTTTAGTGCCTCTTATAATCCTCTGAAATATCAGATATTGTTGTGCTTACTTTTATATTG... | CAAAGACTGAGTCCCTCCAAATACTGCTGCCATTGCTTCTATTGCAGTACGGACAATATTATTGTAGGGATCCTAAAATATTTGATAAAAAACAAAAACTCAAAGAAACAGGTGATAGATATTGCAACTATAAACAGCAACATGATTAAACAGCAACTGCTGCATATTTTCTATGTCAATTTCCATATTAAGCTTCAGAATAGCAAATAAATTCAGACAAATTAGTTTAGAAGCCAAAATTAGAAGAGTCAGAGTTCAGTGTTTAGTGCCTCTTATAATCCTCTGAAATATCAGATATTGTTGTGCTTACTTTTATATTG... |
Task1_train_10447 | The following genetic variant occurs in MMUT (methylmalonyl-CoA mutase) on Chromosome 6. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | AGACTGAGTCCCTCCAAATACTGCTGCCATTGCTTCTATTGCAGTACGGACAATATTATTGTAGGGATCCTAAAATATTTGATAAAAAACAAAAACTCAAAGAAACAGGTGATAGATATTGCAACTATAAACAGCAACATGATTAAACAGCAACTGCTGCATATTTTCTATGTCAATTTCCATATTAAGCTTCAGAATAGCAAATAAATTCAGACAAATTAGTTTAGAAGCCAAAATTAGAAGAGTCAGAGTTCAGTGTTTAGTGCCTCTTATAATCCTCTGAAATATCAGATATTGTTGTGCTTACTTTTATATTGCCT... | AGACTGAGTCCCTCCAAATACTGCTGCCATTGCTTCTATTGCAGTACGGACAATATTATTGTAGGGATCCTAAAATATTTGATAAAAAACAAAAACTCAAAGAAACAGGTGATAGATATTGCAACTATAAACAGCAACATGATTAAACAGCAACTGCTGCATATTTTCTATGTCAATTTCCATATTAAGCTTCAGAATAGCAAATAAATTCAGACAAATTAGTTTAGAAGCCAAAATTAGAAGAGTCAGAGTTCAGTGTTTAGTGCCTCTTATAATCCTCTGAAATATCAGATATTGTTGTGCTTACTTTTATATTGCCT... |
Task1_train_10448 | Here is a variant affecting MMUT (methylmalonyl-CoA mutase) on Chromosome 6. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | GGAGTCACCTATGAATGAAATAAAACAGCAAATTTGCTTTGTTTAGCCAGAAAAGTGTTTTGTAAAAGAATGATTGTGCATTGGTCTAGGCATATACTTCTCCAATTTGTGCCCTTCACCTCTCCCTTTTATCTTATATTCTGTGCTGATTTAAACATTTAGGTTACTTGCCTGTCTCTAAAGGCACAAAGCTTGCAAATCTACTTCTGACACATTTTTGGAAGTTCTTTTTTTGAGACAGAGTCTTGTTCTATTGCACAGGCTGGAGTGCAATGAAGCAATGTCGGGTCACTGCAACCTCCACTTCCCAGGTTCAAGCG... | GGAGTCACCTATGAATGAAATAAAACAGCAAATTTGCTTTGTTTAGCCAGAAAAGTGTTTTGTAAAAGAATGATTGTGCATTGGTCTAGGCATATACTTCTCCAATTTGTGCCCTTCACCTCTCCCTTTTATCTTATATTCTGTGCTGATTTAAACATTTAGGTTACTTGCCTGTCTCTAAAGGCACAAAGCTTGCAAATCTACTTCTGACACATTTTTGGAAGTTCTTTTTTTGAGACAGAGTCTTGTTCTATTGCACAGGCTGGAGTGCAATGAAGCAATGTCGGGTCACTGCAACCTCCACTTCCCAGGTTCAAGCG... |
Task1_train_10449 | An alteration has been detected in MMUT (methylmalonyl-CoA mutase) on Chromosome 6. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | TATGAATGAAATAAAACAGCAAATTTGCTTTGTTTAGCCAGAAAAGTGTTTTGTAAAAGAATGATTGTGCATTGGTCTAGGCATATACTTCTCCAATTTGTGCCCTTCACCTCTCCCTTTTATCTTATATTCTGTGCTGATTTAAACATTTAGGTTACTTGCCTGTCTCTAAAGGCACAAAGCTTGCAAATCTACTTCTGACACATTTTTGGAAGTTCTTTTTTTGAGACAGAGTCTTGTTCTATTGCACAGGCTGGAGTGCAATGAAGCAATGTCGGGTCACTGCAACCTCCACTTCCCAGGTTCAAGCGATTCTTGTG... | TATGAATGAAATAAAACAGCAAATTTGCTTTGTTTAGCCAGAAAAGTGTTTTGTAAAAGAATGATTGTGCATTGGTCTAGGCATATACTTCTCCAATTTGTGCCCTTCACCTCTCCCTTTTATCTTATATTCTGTGCTGATTTAAACATTTAGGTTACTTGCCTGTCTCTAAAGGCACAAAGCTTGCAAATCTACTTCTGACACATTTTTGGAAGTTCTTTTTTTGAGACAGAGTCTTGTTCTATTGCACAGGCTGGAGTGCAATGAAGCAATGTCGGGTCACTGCAACCTCCACTTCCCAGGTTCAAGCGATTCTTGTG... |
Task1_train_10450 | Consider a variant on Chromosome 6 in gene MMUT (methylmalonyl-CoA mutase). Determine its clinical classification and disease relevance. | Pathogenic; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | AACAGCAAATTTGCTTTGTTTAGCCAGAAAAGTGTTTTGTAAAAGAATGATTGTGCATTGGTCTAGGCATATACTTCTCCAATTTGTGCCCTTCACCTCTCCCTTTTATCTTATATTCTGTGCTGATTTAAACATTTAGGTTACTTGCCTGTCTCTAAAGGCACAAAGCTTGCAAATCTACTTCTGACACATTTTTGGAAGTTCTTTTTTTGAGACAGAGTCTTGTTCTATTGCACAGGCTGGAGTGCAATGAAGCAATGTCGGGTCACTGCAACCTCCACTTCCCAGGTTCAAGCGATTCTTGTGCCTCACCCTCCCAA... | AACAGCAAATTTGCTTTGTTTAGCCAGAAAAGTGTTTTGTAAAAGAATGATTGTGCATTGGTCTAGGCATATACTTCTCCAATTTGTGCCCTTCACCTCTCCCTTTTATCTTATATTCTGTGCTGATTTAAACATTTAGGTTACTTGCCTGTCTCTAAAGGCACAAAGCTTGCAAATCTACTTCTGACACATTTTTGGAAGTTCTTTTTTTGAGACAGAGTCTTGTTCTATTGCACAGGCTGGAGTGCAATGAAGCAATGTCGGGTCACTGCAACCTCCACTTCCCAGGTTCAAGCGATTCTTGTGCCTCACCCTCCCAA... |
Task1_train_10451 | The gene MMUT (methylmalonyl-CoA mutase), on Chromosome 6, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | AGAATGATTGTGCATTGGTCTAGGCATATACTTCTCCAATTTGTGCCCTTCACCTCTCCCTTTTATCTTATATTCTGTGCTGATTTAAACATTTAGGTTACTTGCCTGTCTCTAAAGGCACAAAGCTTGCAAATCTACTTCTGACACATTTTTGGAAGTTCTTTTTTTGAGACAGAGTCTTGTTCTATTGCACAGGCTGGAGTGCAATGAAGCAATGTCGGGTCACTGCAACCTCCACTTCCCAGGTTCAAGCGATTCTTGTGCCTCACCCTCCCAAGTAGCTGGAATTACAGACAAGCACCACCATGCCCAGCTAATTT... | AGAATGATTGTGCATTGGTCTAGGCATATACTTCTCCAATTTGTGCCCTTCACCTCTCCCTTTTATCTTATATTCTGTGCTGATTTAAACATTTAGGTTACTTGCCTGTCTCTAAAGGCACAAAGCTTGCAAATCTACTTCTGACACATTTTTGGAAGTTCTTTTTTTGAGACAGAGTCTTGTTCTATTGCACAGGCTGGAGTGCAATGAAGCAATGTCGGGTCACTGCAACCTCCACTTCCCAGGTTCAAGCGATTCTTGTGCCTCACCCTCCCAAGTAGCTGGAATTACAGACAAGCACCACCATGCCCAGCTAATTT... |
Task1_train_10452 | Here is a variant affecting MMUT (methylmalonyl-CoA mutase) on Chromosome 6. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Methylmalonic acidemia | AGAATGATTGTGCATTGGTCTAGGCATATACTTCTCCAATTTGTGCCCTTCACCTCTCCCTTTTATCTTATATTCTGTGCTGATTTAAACATTTAGGTTACTTGCCTGTCTCTAAAGGCACAAAGCTTGCAAATCTACTTCTGACACATTTTTGGAAGTTCTTTTTTTGAGACAGAGTCTTGTTCTATTGCACAGGCTGGAGTGCAATGAAGCAATGTCGGGTCACTGCAACCTCCACTTCCCAGGTTCAAGCGATTCTTGTGCCTCACCCTCCCAAGTAGCTGGAATTACAGACAAGCACCACCATGCCCAGCTAATTT... | AGAATGATTGTGCATTGGTCTAGGCATATACTTCTCCAATTTGTGCCCTTCACCTCTCCCTTTTATCTTATATTCTGTGCTGATTTAAACATTTAGGTTACTTGCCTGTCTCTAAAGGCACAAAGCTTGCAAATCTACTTCTGACACATTTTTGGAAGTTCTTTTTTTGAGACAGAGTCTTGTTCTATTGCACAGGCTGGAGTGCAATGAAGCAATGTCGGGTCACTGCAACCTCCACTTCCCAGGTTCAAGCGATTCTTGTGCCTCACCCTCCCAAGTAGCTGGAATTACAGACAAGCACCACCATGCCCAGCTAATTT... |
Task1_train_10453 | This is a variant in MMUT (methylmalonyl-CoA mutase), located on Chromosome 6. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | CATTAGATAGTGCAACAGAAAAAAAAATAATAATAGATGAATTCTGTATTCTAAAATGGAAAAATTAGAAAAAACTGTCTCAACATTATGTTTACATTTTAATGTAATTTGTTAAAATGTGGAACTTAATTGTGTTCTCTAAATAGCTGGAGACAAGATATTCCTCAAATTTACAAAGAAGTACAGCCAAATTTAATTCTATTTTTTATTAGAAATATTGGCTTTTTCTCTCATTATCACTCAGATAAAATATAAGAAAATCTAAATCTAGCCTGACATTTATATTTATAAATTCATTTTATCAATATATAAAATGGTCC... | CATTAGATAGTGCAACAGAAAAAAAAATAATAATAGATGAATTCTGTATTCTAAAATGGAAAAATTAGAAAAAACTGTCTCAACATTATGTTTACATTTTAATGTAATTTGTTAAAATGTGGAACTTAATTGTGTTCTCTAAATAGCTGGAGACAAGATATTCCTCAAATTTACAAAGAAGTACAGCCAAATTTAATTCTATTTTTTATTAGAAATATTGGCTTTTTCTCTCATTATCACTCAGATAAAATATAAGAAAATCTAAATCTAGCCTGACATTTATATTTATAAATTCATTTTATCAATATATAAAATGGTCC... |
Task1_train_10454 | This is a variant in MMUT (methylmalonyl-CoA mutase), located on Chromosome 6. Is this mutation a likely cause of disease or not? | Pathogenic; Methylmalonic acidemia | AATAATAGATGAATTCTGTATTCTAAAATGGAAAAATTAGAAAAAACTGTCTCAACATTATGTTTACATTTTAATGTAATTTGTTAAAATGTGGAACTTAATTGTGTTCTCTAAATAGCTGGAGACAAGATATTCCTCAAATTTACAAAGAAGTACAGCCAAATTTAATTCTATTTTTTATTAGAAATATTGGCTTTTTCTCTCATTATCACTCAGATAAAATATAAGAAAATCTAAATCTAGCCTGACATTTATATTTATAAATTCATTTTATCAATATATAAAATGGTCCTATGCATTTCTTAATGTTGAAACAATAT... | AATAATAGATGAATTCTGTATTCTAAAATGGAAAAATTAGAAAAAACTGTCTCAACATTATGTTTACATTTTAATGTAATTTGTTAAAATGTGGAACTTAATTGTGTTCTCTAAATAGCTGGAGACAAGATATTCCTCAAATTTACAAAGAAGTACAGCCAAATTTAATTCTATTTTTTATTAGAAATATTGGCTTTTTCTCTCATTATCACTCAGATAAAATATAAGAAAATCTAAATCTAGCCTGACATTTATATTTATAAATTCATTTTATCAATATATAAAATGGTCCTATGCATTTCTTAATGTTGAAACAATAT... |
Task1_train_10455 | The gene MMUT (methylmalonyl-CoA mutase), on Chromosome 6, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | AATAATAGATGAATTCTGTATTCTAAAATGGAAAAATTAGAAAAAACTGTCTCAACATTATGTTTACATTTTAATGTAATTTGTTAAAATGTGGAACTTAATTGTGTTCTCTAAATAGCTGGAGACAAGATATTCCTCAAATTTACAAAGAAGTACAGCCAAATTTAATTCTATTTTTTATTAGAAATATTGGCTTTTTCTCTCATTATCACTCAGATAAAATATAAGAAAATCTAAATCTAGCCTGACATTTATATTTATAAATTCATTTTATCAATATATAAAATGGTCCTATGCATTTCTTAATGTTGAAACAATAT... | AATAATAGATGAATTCTGTATTCTAAAATGGAAAAATTAGAAAAAACTGTCTCAACATTATGTTTACATTTTAATGTAATTTGTTAAAATGTGGAACTTAATTGTGTTCTCTAAATAGCTGGAGACAAGATATTCCTCAAATTTACAAAGAAGTACAGCCAAATTTAATTCTATTTTTTATTAGAAATATTGGCTTTTTCTCTCATTATCACTCAGATAAAATATAAGAAAATCTAAATCTAGCCTGACATTTATATTTATAAATTCATTTTATCAATATATAAAATGGTCCTATGCATTTCTTAATGTTGAAACAATAT... |
Task1_train_10456 | Gene MMUT (methylmalonyl-CoA mutase) on Chromosome 6 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | TAATAGATGAATTCTGTATTCTAAAATGGAAAAATTAGAAAAAACTGTCTCAACATTATGTTTACATTTTAATGTAATTTGTTAAAATGTGGAACTTAATTGTGTTCTCTAAATAGCTGGAGACAAGATATTCCTCAAATTTACAAAGAAGTACAGCCAAATTTAATTCTATTTTTTATTAGAAATATTGGCTTTTTCTCTCATTATCACTCAGATAAAATATAAGAAAATCTAAATCTAGCCTGACATTTATATTTATAAATTCATTTTATCAATATATAAAATGGTCCTATGCATTTCTTAATGTTGAAACAATATCT... | TAATAGATGAATTCTGTATTCTAAAATGGAAAAATTAGAAAAAACTGTCTCAACATTATGTTTACATTTTAATGTAATTTGTTAAAATGTGGAACTTAATTGTGTTCTCTAAATAGCTGGAGACAAGATATTCCTCAAATTTACAAAGAAGTACAGCCAAATTTAATTCTATTTTTTATTAGAAATATTGGCTTTTTCTCTCATTATCACTCAGATAAAATATAAGAAAATCTAAATCTAGCCTGACATTTATATTTATAAATTCATTTTATCAATATATAAAATGGTCCTATGCATTTCTTAATGTTGAAACAATATCT... |
Task1_train_10457 | The gene MMUT (methylmalonyl-CoA mutase), on Chromosome 6, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | ATTCTGTATTCTAAAATGGAAAAATTAGAAAAAACTGTCTCAACATTATGTTTACATTTTAATGTAATTTGTTAAAATGTGGAACTTAATTGTGTTCTCTAAATAGCTGGAGACAAGATATTCCTCAAATTTACAAAGAAGTACAGCCAAATTTAATTCTATTTTTTATTAGAAATATTGGCTTTTTCTCTCATTATCACTCAGATAAAATATAAGAAAATCTAAATCTAGCCTGACATTTATATTTATAAATTCATTTTATCAATATATAAAATGGTCCTATGCATTTCTTAATGTTGAAACAATATCTAGGTTTAATT... | ATTCTGTATTCTAAAATGGAAAAATTAGAAAAAACTGTCTCAACATTATGTTTACATTTTAATGTAATTTGTTAAAATGTGGAACTTAATTGTGTTCTCTAAATAGCTGGAGACAAGATATTCCTCAAATTTACAAAGAAGTACAGCCAAATTTAATTCTATTTTTTATTAGAAATATTGGCTTTTTCTCTCATTATCACTCAGATAAAATATAAGAAAATCTAAATCTAGCCTGACATTTATATTTATAAATTCATTTTATCAATATATAAAATGGTCCTATGCATTTCTTAATGTTGAAACAATATCTAGGTTTAATT... |
Task1_train_10458 | This mutation is located in gene MMUT (methylmalonyl-CoA mutase) on Chromosome 6. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | AAAACTGTCTCAACATTATGTTTACATTTTAATGTAATTTGTTAAAATGTGGAACTTAATTGTGTTCTCTAAATAGCTGGAGACAAGATATTCCTCAAATTTACAAAGAAGTACAGCCAAATTTAATTCTATTTTTTATTAGAAATATTGGCTTTTTCTCTCATTATCACTCAGATAAAATATAAGAAAATCTAAATCTAGCCTGACATTTATATTTATAAATTCATTTTATCAATATATAAAATGGTCCTATGCATTTCTTAATGTTGAAACAATATCTAGGTTTAATTTACTCACCTTGGTGCAAATTCATCAATTGT... | AAAACTGTCTCAACATTATGTTTACATTTTAATGTAATTTGTTAAAATGTGGAACTTAATTGTGTTCTCTAAATAGCTGGAGACAAGATATTCCTCAAATTTACAAAGAAGTACAGCCAAATTTAATTCTATTTTTTATTAGAAATATTGGCTTTTTCTCTCATTATCACTCAGATAAAATATAAGAAAATCTAAATCTAGCCTGACATTTATATTTATAAATTCATTTTATCAATATATAAAATGGTCCTATGCATTTCTTAATGTTGAAACAATATCTAGGTTTAATTTACTCACCTTGGTGCAAATTCATCAATTGT... |
Task1_train_10459 | This variant affects the gene MMUT (methylmalonyl-CoA mutase) found on Chromosome 6. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | GTCTCAACATTATGTTTACATTTTAATGTAATTTGTTAAAATGTGGAACTTAATTGTGTTCTCTAAATAGCTGGAGACAAGATATTCCTCAAATTTACAAAGAAGTACAGCCAAATTTAATTCTATTTTTTATTAGAAATATTGGCTTTTTCTCTCATTATCACTCAGATAAAATATAAGAAAATCTAAATCTAGCCTGACATTTATATTTATAAATTCATTTTATCAATATATAAAATGGTCCTATGCATTTCTTAATGTTGAAACAATATCTAGGTTTAATTTACTCACCTTGGTGCAAATTCATCAATTGTCAGGCC... | GTCTCAACATTATGTTTACATTTTAATGTAATTTGTTAAAATGTGGAACTTAATTGTGTTCTCTAAATAGCTGGAGACAAGATATTCCTCAAATTTACAAAGAAGTACAGCCAAATTTAATTCTATTTTTTATTAGAAATATTGGCTTTTTCTCTCATTATCACTCAGATAAAATATAAGAAAATCTAAATCTAGCCTGACATTTATATTTATAAATTCATTTTATCAATATATAAAATGGTCCTATGCATTTCTTAATGTTGAAACAATATCTAGGTTTAATTTACTCACCTTGGTGCAAATTCATCAATTGTCAGGCC... |
Task1_train_10460 | Assess the clinical impact of this variant on gene MMUT (methylmalonyl-CoA mutase), found on Chromosome 6. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Methylmalonic acidemia | GTCTCAACATTATGTTTACATTTTAATGTAATTTGTTAAAATGTGGAACTTAATTGTGTTCTCTAAATAGCTGGAGACAAGATATTCCTCAAATTTACAAAGAAGTACAGCCAAATTTAATTCTATTTTTTATTAGAAATATTGGCTTTTTCTCTCATTATCACTCAGATAAAATATAAGAAAATCTAAATCTAGCCTGACATTTATATTTATAAATTCATTTTATCAATATATAAAATGGTCCTATGCATTTCTTAATGTTGAAACAATATCTAGGTTTAATTTACTCACCTTGGTGCAAATTCATCAATTGTCAGGCC... | GTCTCAACATTATGTTTACATTTTAATGTAATTTGTTAAAATGTGGAACTTAATTGTGTTCTCTAAATAGCTGGAGACAAGATATTCCTCAAATTTACAAAGAAGTACAGCCAAATTTAATTCTATTTTTTATTAGAAATATTGGCTTTTTCTCTCATTATCACTCAGATAAAATATAAGAAAATCTAAATCTAGCCTGACATTTATATTTATAAATTCATTTTATCAATATATAAAATGGTCCTATGCATTTCTTAATGTTGAAACAATATCTAGGTTTAATTTACTCACCTTGGTGCAAATTCATCAATTGTCAGGCC... |
Task1_train_10461 | Chromosome 6 houses a mutation in gene MMUT (methylmalonyl-CoA mutase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Abnormality of metabolism/homeostasis | TTAAAATGTGGAACTTAATTGTGTTCTCTAAATAGCTGGAGACAAGATATTCCTCAAATTTACAAAGAAGTACAGCCAAATTTAATTCTATTTTTTATTAGAAATATTGGCTTTTTCTCTCATTATCACTCAGATAAAATATAAGAAAATCTAAATCTAGCCTGACATTTATATTTATAAATTCATTTTATCAATATATAAAATGGTCCTATGCATTTCTTAATGTTGAAACAATATCTAGGTTTAATTTACTCACCTTGGTGCAAATTCATCAATTGTCAGGCCAGCCTGGAGTCCAGTTCTAGAGTACTCCAATCCAT... | TTAAAATGTGGAACTTAATTGTGTTCTCTAAATAGCTGGAGACAAGATATTCCTCAAATTTACAAAGAAGTACAGCCAAATTTAATTCTATTTTTTATTAGAAATATTGGCTTTTTCTCTCATTATCACTCAGATAAAATATAAGAAAATCTAAATCTAGCCTGACATTTATATTTATAAATTCATTTTATCAATATATAAAATGGTCCTATGCATTTCTTAATGTTGAAACAATATCTAGGTTTAATTTACTCACCTTGGTGCAAATTCATCAATTGTCAGGCCAGCCTGGAGTCCAGTTCTAGAGTACTCCAATCCAT... |
Task1_train_10462 | Located on Chromosome 6, this mutation impacts MMUT (methylmalonyl-CoA mutase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Methylmalonic acidemia | TTAAAATGTGGAACTTAATTGTGTTCTCTAAATAGCTGGAGACAAGATATTCCTCAAATTTACAAAGAAGTACAGCCAAATTTAATTCTATTTTTTATTAGAAATATTGGCTTTTTCTCTCATTATCACTCAGATAAAATATAAGAAAATCTAAATCTAGCCTGACATTTATATTTATAAATTCATTTTATCAATATATAAAATGGTCCTATGCATTTCTTAATGTTGAAACAATATCTAGGTTTAATTTACTCACCTTGGTGCAAATTCATCAATTGTCAGGCCAGCCTGGAGTCCAGTTCTAGAGTACTCCAATCCAT... | TTAAAATGTGGAACTTAATTGTGTTCTCTAAATAGCTGGAGACAAGATATTCCTCAAATTTACAAAGAAGTACAGCCAAATTTAATTCTATTTTTTATTAGAAATATTGGCTTTTTCTCTCATTATCACTCAGATAAAATATAAGAAAATCTAAATCTAGCCTGACATTTATATTTATAAATTCATTTTATCAATATATAAAATGGTCCTATGCATTTCTTAATGTTGAAACAATATCTAGGTTTAATTTACTCACCTTGGTGCAAATTCATCAATTGTCAGGCCAGCCTGGAGTCCAGTTCTAGAGTACTCCAATCCAT... |
Task1_train_10463 | A variant on Chromosome 6 in gene MMUT (methylmalonyl-CoA mutase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | TTAAAATGTGGAACTTAATTGTGTTCTCTAAATAGCTGGAGACAAGATATTCCTCAAATTTACAAAGAAGTACAGCCAAATTTAATTCTATTTTTTATTAGAAATATTGGCTTTTTCTCTCATTATCACTCAGATAAAATATAAGAAAATCTAAATCTAGCCTGACATTTATATTTATAAATTCATTTTATCAATATATAAAATGGTCCTATGCATTTCTTAATGTTGAAACAATATCTAGGTTTAATTTACTCACCTTGGTGCAAATTCATCAATTGTCAGGCCAGCCTGGAGTCCAGTTCTAGAGTACTCCAATCCAT... | TTAAAATGTGGAACTTAATTGTGTTCTCTAAATAGCTGGAGACAAGATATTCCTCAAATTTACAAAGAAGTACAGCCAAATTTAATTCTATTTTTTATTAGAAATATTGGCTTTTTCTCTCATTATCACTCAGATAAAATATAAGAAAATCTAAATCTAGCCTGACATTTATATTTATAAATTCATTTTATCAATATATAAAATGGTCCTATGCATTTCTTAATGTTGAAACAATATCTAGGTTTAATTTACTCACCTTGGTGCAAATTCATCAATTGTCAGGCCAGCCTGGAGTCCAGTTCTAGAGTACTCCAATCCAT... |
Task1_train_10464 | This variant lies on Chromosome 6 and affects the gene MMUT (methylmalonyl-CoA mutase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | ACTTAATTGTGTTCTCTAAATAGCTGGAGACAAGATATTCCTCAAATTTACAAAGAAGTACAGCCAAATTTAATTCTATTTTTTATTAGAAATATTGGCTTTTTCTCTCATTATCACTCAGATAAAATATAAGAAAATCTAAATCTAGCCTGACATTTATATTTATAAATTCATTTTATCAATATATAAAATGGTCCTATGCATTTCTTAATGTTGAAACAATATCTAGGTTTAATTTACTCACCTTGGTGCAAATTCATCAATTGTCAGGCCAGCCTGGAGTCCAGTTCTAGAGTACTCCAATCCATCTGCTAAAGTAT... | ACTTAATTGTGTTCTCTAAATAGCTGGAGACAAGATATTCCTCAAATTTACAAAGAAGTACAGCCAAATTTAATTCTATTTTTTATTAGAAATATTGGCTTTTTCTCTCATTATCACTCAGATAAAATATAAGAAAATCTAAATCTAGCCTGACATTTATATTTATAAATTCATTTTATCAATATATAAAATGGTCCTATGCATTTCTTAATGTTGAAACAATATCTAGGTTTAATTTACTCACCTTGGTGCAAATTCATCAATTGTCAGGCCAGCCTGGAGTCCAGTTCTAGAGTACTCCAATCCATCTGCTAAAGTAT... |
Task1_train_10465 | A variant found in Chromosome 6 affects MMUT (methylmalonyl-CoA mutase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | CCTCAAATTTACAAAGAAGTACAGCCAAATTTAATTCTATTTTTTATTAGAAATATTGGCTTTTTCTCTCATTATCACTCAGATAAAATATAAGAAAATCTAAATCTAGCCTGACATTTATATTTATAAATTCATTTTATCAATATATAAAATGGTCCTATGCATTTCTTAATGTTGAAACAATATCTAGGTTTAATTTACTCACCTTGGTGCAAATTCATCAATTGTCAGGCCAGCCTGGAGTCCAGTTCTAGAGTACTCCAATCCATCTGCTAAAGTATAGGCCAGCTCCAGAATGGCATCAGCCCCTGCTTCCTGCA... | CCTCAAATTTACAAAGAAGTACAGCCAAATTTAATTCTATTTTTTATTAGAAATATTGGCTTTTTCTCTCATTATCACTCAGATAAAATATAAGAAAATCTAAATCTAGCCTGACATTTATATTTATAAATTCATTTTATCAATATATAAAATGGTCCTATGCATTTCTTAATGTTGAAACAATATCTAGGTTTAATTTACTCACCTTGGTGCAAATTCATCAATTGTCAGGCCAGCCTGGAGTCCAGTTCTAGAGTACTCCAATCCATCTGCTAAAGTATAGGCCAGCTCCAGAATGGCATCAGCCCCTGCTTCCTGCA... |
Task1_train_10466 | Gene MMUT (methylmalonyl-CoA mutase) on Chromosome 6 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | TTTTTATTAGAAATATTGGCTTTTTCTCTCATTATCACTCAGATAAAATATAAGAAAATCTAAATCTAGCCTGACATTTATATTTATAAATTCATTTTATCAATATATAAAATGGTCCTATGCATTTCTTAATGTTGAAACAATATCTAGGTTTAATTTACTCACCTTGGTGCAAATTCATCAATTGTCAGGCCAGCCTGGAGTCCAGTTCTAGAGTACTCCAATCCATCTGCTAAAGTATAGGCCAGCTCCAGAATGGCATCAGCCCCTGCTTCCTGCATATGGTATCCACTAATTGAAATTGAATTAAATTTTGGCAT... | TTTTTATTAGAAATATTGGCTTTTTCTCTCATTATCACTCAGATAAAATATAAGAAAATCTAAATCTAGCCTGACATTTATATTTATAAATTCATTTTATCAATATATAAAATGGTCCTATGCATTTCTTAATGTTGAAACAATATCTAGGTTTAATTTACTCACCTTGGTGCAAATTCATCAATTGTCAGGCCAGCCTGGAGTCCAGTTCTAGAGTACTCCAATCCATCTGCTAAAGTATAGGCCAGCTCCAGAATGGCATCAGCCCCTGCTTCCTGCATATGGTATCCACTAATTGAAATTGAATTAAATTTTGGCAT... |
Task1_train_10467 | This genomic variant is located on Chromosome 6, within the MMUT (methylmalonyl-CoA mutase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not specified | ATTGGCTTTTTCTCTCATTATCACTCAGATAAAATATAAGAAAATCTAAATCTAGCCTGACATTTATATTTATAAATTCATTTTATCAATATATAAAATGGTCCTATGCATTTCTTAATGTTGAAACAATATCTAGGTTTAATTTACTCACCTTGGTGCAAATTCATCAATTGTCAGGCCAGCCTGGAGTCCAGTTCTAGAGTACTCCAATCCATCTGCTAAAGTATAGGCCAGCTCCAGAATGGCATCAGCCCCTGCTTCCTGCATATGGTATCCACTAATTGAAATTGAATTAAATTTTGGCATGTGCTACATAAAAA... | ATTGGCTTTTTCTCTCATTATCACTCAGATAAAATATAAGAAAATCTAAATCTAGCCTGACATTTATATTTATAAATTCATTTTATCAATATATAAAATGGTCCTATGCATTTCTTAATGTTGAAACAATATCTAGGTTTAATTTACTCACCTTGGTGCAAATTCATCAATTGTCAGGCCAGCCTGGAGTCCAGTTCTAGAGTACTCCAATCCATCTGCTAAAGTATAGGCCAGCTCCAGAATGGCATCAGCCCCTGCTTCCTGCATATGGTATCCACTAATTGAAATTGAATTAAATTTTGGCATGTGCTACATAAAAA... |
Task1_train_10468 | Gene MMUT (methylmalonyl-CoA mutase) on Chromosome 6 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | ATTGGCTTTTTCTCTCATTATCACTCAGATAAAATATAAGAAAATCTAAATCTAGCCTGACATTTATATTTATAAATTCATTTTATCAATATATAAAATGGTCCTATGCATTTCTTAATGTTGAAACAATATCTAGGTTTAATTTACTCACCTTGGTGCAAATTCATCAATTGTCAGGCCAGCCTGGAGTCCAGTTCTAGAGTACTCCAATCCATCTGCTAAAGTATAGGCCAGCTCCAGAATGGCATCAGCCCCTGCTTCCTGCATATGGTATCCACTAATTGAAATTGAATTAAATTTTGGCATGTGCTACATAAAAA... | ATTGGCTTTTTCTCTCATTATCACTCAGATAAAATATAAGAAAATCTAAATCTAGCCTGACATTTATATTTATAAATTCATTTTATCAATATATAAAATGGTCCTATGCATTTCTTAATGTTGAAACAATATCTAGGTTTAATTTACTCACCTTGGTGCAAATTCATCAATTGTCAGGCCAGCCTGGAGTCCAGTTCTAGAGTACTCCAATCCATCTGCTAAAGTATAGGCCAGCTCCAGAATGGCATCAGCCCCTGCTTCCTGCATATGGTATCCACTAATTGAAATTGAATTAAATTTTGGCATGTGCTACATAAAAA... |
Task1_train_10469 | Gene MMUT (methylmalonyl-CoA mutase) on Chromosome 6 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | TAGCCTGACATTTATATTTATAAATTCATTTTATCAATATATAAAATGGTCCTATGCATTTCTTAATGTTGAAACAATATCTAGGTTTAATTTACTCACCTTGGTGCAAATTCATCAATTGTCAGGCCAGCCTGGAGTCCAGTTCTAGAGTACTCCAATCCATCTGCTAAAGTATAGGCCAGCTCCAGAATGGCATCAGCCCCTGCTTCCTGCATATGGTATCCACTAATTGAAATTGAATTAAATTTTGGCATGTGCTACATAAAAAAAAAAATTGTAACAGTGAATAAGTAAAAATATTAAAAGGTCCTATTAAATCC... | TAGCCTGACATTTATATTTATAAATTCATTTTATCAATATATAAAATGGTCCTATGCATTTCTTAATGTTGAAACAATATCTAGGTTTAATTTACTCACCTTGGTGCAAATTCATCAATTGTCAGGCCAGCCTGGAGTCCAGTTCTAGAGTACTCCAATCCATCTGCTAAAGTATAGGCCAGCTCCAGAATGGCATCAGCCCCTGCTTCCTGCATATGGTATCCACTAATTGAAATTGAATTAAATTTTGGCATGTGCTACATAAAAAAAAAAATTGTAACAGTGAATAAGTAAAAATATTAAAAGGTCCTATTAAATCC... |
Task1_train_10470 | This variant impacts the gene MMUT (methylmalonyl-CoA mutase) on Chromosome 6. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | ATTTATATTTATAAATTCATTTTATCAATATATAAAATGGTCCTATGCATTTCTTAATGTTGAAACAATATCTAGGTTTAATTTACTCACCTTGGTGCAAATTCATCAATTGTCAGGCCAGCCTGGAGTCCAGTTCTAGAGTACTCCAATCCATCTGCTAAAGTATAGGCCAGCTCCAGAATGGCATCAGCCCCTGCTTCCTGCATATGGTATCCACTAATTGAAATTGAATTAAATTTTGGCATGTGCTACATAAAAAAAAAAATTGTAACAGTGAATAAGTAAAAATATTAAAAGGTCCTATTAAATCCACTTTCTAA... | ATTTATATTTATAAATTCATTTTATCAATATATAAAATGGTCCTATGCATTTCTTAATGTTGAAACAATATCTAGGTTTAATTTACTCACCTTGGTGCAAATTCATCAATTGTCAGGCCAGCCTGGAGTCCAGTTCTAGAGTACTCCAATCCATCTGCTAAAGTATAGGCCAGCTCCAGAATGGCATCAGCCCCTGCTTCCTGCATATGGTATCCACTAATTGAAATTGAATTAAATTTTGGCATGTGCTACATAAAAAAAAAAATTGTAACAGTGAATAAGTAAAAATATTAAAAGGTCCTATTAAATCCACTTTCTAA... |
Task1_train_10471 | The gene MMUT (methylmalonyl-CoA mutase), on Chromosome 6, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | TATAAATTCATTTTATCAATATATAAAATGGTCCTATGCATTTCTTAATGTTGAAACAATATCTAGGTTTAATTTACTCACCTTGGTGCAAATTCATCAATTGTCAGGCCAGCCTGGAGTCCAGTTCTAGAGTACTCCAATCCATCTGCTAAAGTATAGGCCAGCTCCAGAATGGCATCAGCCCCTGCTTCCTGCATATGGTATCCACTAATTGAAATTGAATTAAATTTTGGCATGTGCTACATAAAAAAAAAAATTGTAACAGTGAATAAGTAAAAATATTAAAAGGTCCTATTAAATCCACTTTCTAAGCATAAACA... | TATAAATTCATTTTATCAATATATAAAATGGTCCTATGCATTTCTTAATGTTGAAACAATATCTAGGTTTAATTTACTCACCTTGGTGCAAATTCATCAATTGTCAGGCCAGCCTGGAGTCCAGTTCTAGAGTACTCCAATCCATCTGCTAAAGTATAGGCCAGCTCCAGAATGGCATCAGCCCCTGCTTCCTGCATATGGTATCCACTAATTGAAATTGAATTAAATTTTGGCATGTGCTACATAAAAAAAAAAATTGTAACAGTGAATAAGTAAAAATATTAAAAGGTCCTATTAAATCCACTTTCTAAGCATAAACA... |
Task1_train_10472 | The gene MMUT (methylmalonyl-CoA mutase) is located on Chromosome 6, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | GTTGATAAAGATAAAAAGGGTTGATGACGATTTTCTCTGTGCCATGAAATAATGATCTAACTTTAACGTAGGTAAGGAGAAGGAGTACGTTGCTGGTAAGAAGCAAAGAGTGAATAATGGGGGGAAATATAAACAAATTGCTCACAGGAAAATGAAGGAGGAAAATGTGTCCCTATGGAAGGATTTTTCCCATCATTCTTATTGGGAAAGATGAGCCTAATTCAAGGGTGAATATTAGGGACCTCCTTGAGGTTGCAGATATGAGTGATAAGTGATATCTTCCAATTCAGCTTTTAGCAGAAATAAAGCTGATATTCCAA... | GTTGATAAAGATAAAAAGGGTTGATGACGATTTTCTCTGTGCCATGAAATAATGATCTAACTTTAACGTAGGTAAGGAGAAGGAGTACGTTGCTGGTAAGAAGCAAAGAGTGAATAATGGGGGGAAATATAAACAAATTGCTCACAGGAAAATGAAGGAGGAAAATGTGTCCCTATGGAAGGATTTTTCCCATCATTCTTATTGGGAAAGATGAGCCTAATTCAAGGGTGAATATTAGGGACCTCCTTGAGGTTGCAGATATGAGTGATAAGTGATATCTTCCAATTCAGCTTTTAGCAGAAATAAAGCTGATATTCCAA... |
Task1_train_10473 | A mutation found in MMUT (methylmalonyl-CoA mutase) on Chromosome 6 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; METHYLMALONIC ACIDURIA, mut(0) TYPE | TAATGATCTAACTTTAACGTAGGTAAGGAGAAGGAGTACGTTGCTGGTAAGAAGCAAAGAGTGAATAATGGGGGGAAATATAAACAAATTGCTCACAGGAAAATGAAGGAGGAAAATGTGTCCCTATGGAAGGATTTTTCCCATCATTCTTATTGGGAAAGATGAGCCTAATTCAAGGGTGAATATTAGGGACCTCCTTGAGGTTGCAGATATGAGTGATAAGTGATATCTTCCAATTCAGCTTTTAGCAGAAATAAAGCTGATATTCCAATCCCCATTTGTCTGATACCAGTGTCTACTTCACAACTGCATCTGAATTT... | TAATGATCTAACTTTAACGTAGGTAAGGAGAAGGAGTACGTTGCTGGTAAGAAGCAAAGAGTGAATAATGGGGGGAAATATAAACAAATTGCTCACAGGAAAATGAAGGAGGAAAATGTGTCCCTATGGAAGGATTTTTCCCATCATTCTTATTGGGAAAGATGAGCCTAATTCAAGGGTGAATATTAGGGACCTCCTTGAGGTTGCAGATATGAGTGATAAGTGATATCTTCCAATTCAGCTTTTAGCAGAAATAAAGCTGATATTCCAATCCCCATTTGTCTGATACCAGTGTCTACTTCACAACTGCATCTGAATTT... |
Task1_train_10474 | This alteration occurs within gene MMUT (methylmalonyl-CoA mutase) located on Chromosome 6. Is it associated with a disease or is it a benign variant? | Pathogenic; METHYLMALONIC ACIDURIA, mut(0) TYPE | TCTAACTTTAACGTAGGTAAGGAGAAGGAGTACGTTGCTGGTAAGAAGCAAAGAGTGAATAATGGGGGGAAATATAAACAAATTGCTCACAGGAAAATGAAGGAGGAAAATGTGTCCCTATGGAAGGATTTTTCCCATCATTCTTATTGGGAAAGATGAGCCTAATTCAAGGGTGAATATTAGGGACCTCCTTGAGGTTGCAGATATGAGTGATAAGTGATATCTTCCAATTCAGCTTTTAGCAGAAATAAAGCTGATATTCCAATCCCCATTTGTCTGATACCAGTGTCTACTTCACAACTGCATCTGAATTTCGGAGG... | TCTAACTTTAACGTAGGTAAGGAGAAGGAGTACGTTGCTGGTAAGAAGCAAAGAGTGAATAATGGGGGGAAATATAAACAAATTGCTCACAGGAAAATGAAGGAGGAAAATGTGTCCCTATGGAAGGATTTTTCCCATCATTCTTATTGGGAAAGATGAGCCTAATTCAAGGGTGAATATTAGGGACCTCCTTGAGGTTGCAGATATGAGTGATAAGTGATATCTTCCAATTCAGCTTTTAGCAGAAATAAAGCTGATATTCCAATCCCCATTTGTCTGATACCAGTGTCTACTTCACAACTGCATCTGAATTTCGGAGG... |
Task1_train_10475 | This is a variant in MMUT (methylmalonyl-CoA mutase), located on Chromosome 6. Is this mutation a likely cause of disease or not? | Pathogenic; Methylmalonic acidemia | TCTAACTTTAACGTAGGTAAGGAGAAGGAGTACGTTGCTGGTAAGAAGCAAAGAGTGAATAATGGGGGGAAATATAAACAAATTGCTCACAGGAAAATGAAGGAGGAAAATGTGTCCCTATGGAAGGATTTTTCCCATCATTCTTATTGGGAAAGATGAGCCTAATTCAAGGGTGAATATTAGGGACCTCCTTGAGGTTGCAGATATGAGTGATAAGTGATATCTTCCAATTCAGCTTTTAGCAGAAATAAAGCTGATATTCCAATCCCCATTTGTCTGATACCAGTGTCTACTTCACAACTGCATCTGAATTTCGGAGG... | TCTAACTTTAACGTAGGTAAGGAGAAGGAGTACGTTGCTGGTAAGAAGCAAAGAGTGAATAATGGGGGGAAATATAAACAAATTGCTCACAGGAAAATGAAGGAGGAAAATGTGTCCCTATGGAAGGATTTTTCCCATCATTCTTATTGGGAAAGATGAGCCTAATTCAAGGGTGAATATTAGGGACCTCCTTGAGGTTGCAGATATGAGTGATAAGTGATATCTTCCAATTCAGCTTTTAGCAGAAATAAAGCTGATATTCCAATCCCCATTTGTCTGATACCAGTGTCTACTTCACAACTGCATCTGAATTTCGGAGG... |
Task1_train_10476 | The gene MMUT (methylmalonyl-CoA mutase) is located on Chromosome 6, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | TCTAACTTTAACGTAGGTAAGGAGAAGGAGTACGTTGCTGGTAAGAAGCAAAGAGTGAATAATGGGGGGAAATATAAACAAATTGCTCACAGGAAAATGAAGGAGGAAAATGTGTCCCTATGGAAGGATTTTTCCCATCATTCTTATTGGGAAAGATGAGCCTAATTCAAGGGTGAATATTAGGGACCTCCTTGAGGTTGCAGATATGAGTGATAAGTGATATCTTCCAATTCAGCTTTTAGCAGAAATAAAGCTGATATTCCAATCCCCATTTGTCTGATACCAGTGTCTACTTCACAACTGCATCTGAATTTCGGAGG... | TCTAACTTTAACGTAGGTAAGGAGAAGGAGTACGTTGCTGGTAAGAAGCAAAGAGTGAATAATGGGGGGAAATATAAACAAATTGCTCACAGGAAAATGAAGGAGGAAAATGTGTCCCTATGGAAGGATTTTTCCCATCATTCTTATTGGGAAAGATGAGCCTAATTCAAGGGTGAATATTAGGGACCTCCTTGAGGTTGCAGATATGAGTGATAAGTGATATCTTCCAATTCAGCTTTTAGCAGAAATAAAGCTGATATTCCAATCCCCATTTGTCTGATACCAGTGTCTACTTCACAACTGCATCTGAATTTCGGAGG... |
Task1_train_10477 | This genomic variant is located on Chromosome 6, within the MMUT (methylmalonyl-CoA mutase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Methylmalonic acidemia | CTAACTTTAACGTAGGTAAGGAGAAGGAGTACGTTGCTGGTAAGAAGCAAAGAGTGAATAATGGGGGGAAATATAAACAAATTGCTCACAGGAAAATGAAGGAGGAAAATGTGTCCCTATGGAAGGATTTTTCCCATCATTCTTATTGGGAAAGATGAGCCTAATTCAAGGGTGAATATTAGGGACCTCCTTGAGGTTGCAGATATGAGTGATAAGTGATATCTTCCAATTCAGCTTTTAGCAGAAATAAAGCTGATATTCCAATCCCCATTTGTCTGATACCAGTGTCTACTTCACAACTGCATCTGAATTTCGGAGGG... | CTAACTTTAACGTAGGTAAGGAGAAGGAGTACGTTGCTGGTAAGAAGCAAAGAGTGAATAATGGGGGGAAATATAAACAAATTGCTCACAGGAAAATGAAGGAGGAAAATGTGTCCCTATGGAAGGATTTTTCCCATCATTCTTATTGGGAAAGATGAGCCTAATTCAAGGGTGAATATTAGGGACCTCCTTGAGGTTGCAGATATGAGTGATAAGTGATATCTTCCAATTCAGCTTTTAGCAGAAATAAAGCTGATATTCCAATCCCCATTTGTCTGATACCAGTGTCTACTTCACAACTGCATCTGAATTTCGGAGGG... |
Task1_train_10478 | This mutation is located in gene MMUT (methylmalonyl-CoA mutase) on Chromosome 6. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | CTAACTTTAACGTAGGTAAGGAGAAGGAGTACGTTGCTGGTAAGAAGCAAAGAGTGAATAATGGGGGGAAATATAAACAAATTGCTCACAGGAAAATGAAGGAGGAAAATGTGTCCCTATGGAAGGATTTTTCCCATCATTCTTATTGGGAAAGATGAGCCTAATTCAAGGGTGAATATTAGGGACCTCCTTGAGGTTGCAGATATGAGTGATAAGTGATATCTTCCAATTCAGCTTTTAGCAGAAATAAAGCTGATATTCCAATCCCCATTTGTCTGATACCAGTGTCTACTTCACAACTGCATCTGAATTTCGGAGGG... | CTAACTTTAACGTAGGTAAGGAGAAGGAGTACGTTGCTGGTAAGAAGCAAAGAGTGAATAATGGGGGGAAATATAAACAAATTGCTCACAGGAAAATGAAGGAGGAAAATGTGTCCCTATGGAAGGATTTTTCCCATCATTCTTATTGGGAAAGATGAGCCTAATTCAAGGGTGAATATTAGGGACCTCCTTGAGGTTGCAGATATGAGTGATAAGTGATATCTTCCAATTCAGCTTTTAGCAGAAATAAAGCTGATATTCCAATCCCCATTTGTCTGATACCAGTGTCTACTTCACAACTGCATCTGAATTTCGGAGGG... |
Task1_train_10479 | The following genetic variant occurs in MMUT (methylmalonyl-CoA mutase) on Chromosome 6. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not specified | CTAACTTTAACGTAGGTAAGGAGAAGGAGTACGTTGCTGGTAAGAAGCAAAGAGTGAATAATGGGGGGAAATATAAACAAATTGCTCACAGGAAAATGAAGGAGGAAAATGTGTCCCTATGGAAGGATTTTTCCCATCATTCTTATTGGGAAAGATGAGCCTAATTCAAGGGTGAATATTAGGGACCTCCTTGAGGTTGCAGATATGAGTGATAAGTGATATCTTCCAATTCAGCTTTTAGCAGAAATAAAGCTGATATTCCAATCCCCATTTGTCTGATACCAGTGTCTACTTCACAACTGCATCTGAATTTCGGAGGG... | CTAACTTTAACGTAGGTAAGGAGAAGGAGTACGTTGCTGGTAAGAAGCAAAGAGTGAATAATGGGGGGAAATATAAACAAATTGCTCACAGGAAAATGAAGGAGGAAAATGTGTCCCTATGGAAGGATTTTTCCCATCATTCTTATTGGGAAAGATGAGCCTAATTCAAGGGTGAATATTAGGGACCTCCTTGAGGTTGCAGATATGAGTGATAAGTGATATCTTCCAATTCAGCTTTTAGCAGAAATAAAGCTGATATTCCAATCCCCATTTGTCTGATACCAGTGTCTACTTCACAACTGCATCTGAATTTCGGAGGG... |
Task1_train_10480 | This sequence variant lies in MMUT (methylmalonyl-CoA mutase) on Chromosome 6. Is it clinically significant, and what condition might it cause if any? | Pathogenic; METHYLMALONIC ACIDURIA, mut(0) TYPE | CTAACTTTAACGTAGGTAAGGAGAAGGAGTACGTTGCTGGTAAGAAGCAAAGAGTGAATAATGGGGGGAAATATAAACAAATTGCTCACAGGAAAATGAAGGAGGAAAATGTGTCCCTATGGAAGGATTTTTCCCATCATTCTTATTGGGAAAGATGAGCCTAATTCAAGGGTGAATATTAGGGACCTCCTTGAGGTTGCAGATATGAGTGATAAGTGATATCTTCCAATTCAGCTTTTAGCAGAAATAAAGCTGATATTCCAATCCCCATTTGTCTGATACCAGTGTCTACTTCACAACTGCATCTGAATTTCGGAGGG... | CTAACTTTAACGTAGGTAAGGAGAAGGAGTACGTTGCTGGTAAGAAGCAAAGAGTGAATAATGGGGGGAAATATAAACAAATTGCTCACAGGAAAATGAAGGAGGAAAATGTGTCCCTATGGAAGGATTTTTCCCATCATTCTTATTGGGAAAGATGAGCCTAATTCAAGGGTGAATATTAGGGACCTCCTTGAGGTTGCAGATATGAGTGATAAGTGATATCTTCCAATTCAGCTTTTAGCAGAAATAAAGCTGATATTCCAATCCCCATTTGTCTGATACCAGTGTCTACTTCACAACTGCATCTGAATTTCGGAGGG... |
Task1_train_10481 | A genetic alteration is present in MMUT (methylmalonyl-CoA mutase) on Chromosome 6. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Methylmalonic acidemia | AAGGAGTACGTTGCTGGTAAGAAGCAAAGAGTGAATAATGGGGGGAAATATAAACAAATTGCTCACAGGAAAATGAAGGAGGAAAATGTGTCCCTATGGAAGGATTTTTCCCATCATTCTTATTGGGAAAGATGAGCCTAATTCAAGGGTGAATATTAGGGACCTCCTTGAGGTTGCAGATATGAGTGATAAGTGATATCTTCCAATTCAGCTTTTAGCAGAAATAAAGCTGATATTCCAATCCCCATTTGTCTGATACCAGTGTCTACTTCACAACTGCATCTGAATTTCGGAGGGAAATTTAAAAATGTAAGTAGAAG... | AAGGAGTACGTTGCTGGTAAGAAGCAAAGAGTGAATAATGGGGGGAAATATAAACAAATTGCTCACAGGAAAATGAAGGAGGAAAATGTGTCCCTATGGAAGGATTTTTCCCATCATTCTTATTGGGAAAGATGAGCCTAATTCAAGGGTGAATATTAGGGACCTCCTTGAGGTTGCAGATATGAGTGATAAGTGATATCTTCCAATTCAGCTTTTAGCAGAAATAAAGCTGATATTCCAATCCCCATTTGTCTGATACCAGTGTCTACTTCACAACTGCATCTGAATTTCGGAGGGAAATTTAAAAATGTAAGTAGAAG... |
Task1_train_10482 | Here is a genetic alteration in MMUT (methylmalonyl-CoA mutase) on Chromosome 6. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Methylmalonic acidemia | AAGAAGCAAAGAGTGAATAATGGGGGGAAATATAAACAAATTGCTCACAGGAAAATGAAGGAGGAAAATGTGTCCCTATGGAAGGATTTTTCCCATCATTCTTATTGGGAAAGATGAGCCTAATTCAAGGGTGAATATTAGGGACCTCCTTGAGGTTGCAGATATGAGTGATAAGTGATATCTTCCAATTCAGCTTTTAGCAGAAATAAAGCTGATATTCCAATCCCCATTTGTCTGATACCAGTGTCTACTTCACAACTGCATCTGAATTTCGGAGGGAAATTTAAAAATGTAAGTAGAAGACCTCCCTGAATCTAACA... | AAGAAGCAAAGAGTGAATAATGGGGGGAAATATAAACAAATTGCTCACAGGAAAATGAAGGAGGAAAATGTGTCCCTATGGAAGGATTTTTCCCATCATTCTTATTGGGAAAGATGAGCCTAATTCAAGGGTGAATATTAGGGACCTCCTTGAGGTTGCAGATATGAGTGATAAGTGATATCTTCCAATTCAGCTTTTAGCAGAAATAAAGCTGATATTCCAATCCCCATTTGTCTGATACCAGTGTCTACTTCACAACTGCATCTGAATTTCGGAGGGAAATTTAAAAATGTAAGTAGAAGACCTCCCTGAATCTAACA... |
Task1_train_10483 | Gene MMUT (methylmalonyl-CoA mutase), found on Chromosome 6, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | AAGAAGCAAAGAGTGAATAATGGGGGGAAATATAAACAAATTGCTCACAGGAAAATGAAGGAGGAAAATGTGTCCCTATGGAAGGATTTTTCCCATCATTCTTATTGGGAAAGATGAGCCTAATTCAAGGGTGAATATTAGGGACCTCCTTGAGGTTGCAGATATGAGTGATAAGTGATATCTTCCAATTCAGCTTTTAGCAGAAATAAAGCTGATATTCCAATCCCCATTTGTCTGATACCAGTGTCTACTTCACAACTGCATCTGAATTTCGGAGGGAAATTTAAAAATGTAAGTAGAAGACCTCCCTGAATCTAACA... | AAGAAGCAAAGAGTGAATAATGGGGGGAAATATAAACAAATTGCTCACAGGAAAATGAAGGAGGAAAATGTGTCCCTATGGAAGGATTTTTCCCATCATTCTTATTGGGAAAGATGAGCCTAATTCAAGGGTGAATATTAGGGACCTCCTTGAGGTTGCAGATATGAGTGATAAGTGATATCTTCCAATTCAGCTTTTAGCAGAAATAAAGCTGATATTCCAATCCCCATTTGTCTGATACCAGTGTCTACTTCACAACTGCATCTGAATTTCGGAGGGAAATTTAAAAATGTAAGTAGAAGACCTCCCTGAATCTAACA... |
Task1_train_10484 | Consider this mutation in MMUT (methylmalonyl-CoA mutase) on Chromosome 6. Is this a benign change or a disease-causing variant? | Pathogenic; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | AAGCAAAGAGTGAATAATGGGGGGAAATATAAACAAATTGCTCACAGGAAAATGAAGGAGGAAAATGTGTCCCTATGGAAGGATTTTTCCCATCATTCTTATTGGGAAAGATGAGCCTAATTCAAGGGTGAATATTAGGGACCTCCTTGAGGTTGCAGATATGAGTGATAAGTGATATCTTCCAATTCAGCTTTTAGCAGAAATAAAGCTGATATTCCAATCCCCATTTGTCTGATACCAGTGTCTACTTCACAACTGCATCTGAATTTCGGAGGGAAATTTAAAAATGTAAGTAGAAGACCTCCCTGAATCTAACAATT... | AAGCAAAGAGTGAATAATGGGGGGAAATATAAACAAATTGCTCACAGGAAAATGAAGGAGGAAAATGTGTCCCTATGGAAGGATTTTTCCCATCATTCTTATTGGGAAAGATGAGCCTAATTCAAGGGTGAATATTAGGGACCTCCTTGAGGTTGCAGATATGAGTGATAAGTGATATCTTCCAATTCAGCTTTTAGCAGAAATAAAGCTGATATTCCAATCCCCATTTGTCTGATACCAGTGTCTACTTCACAACTGCATCTGAATTTCGGAGGGAAATTTAAAAATGTAAGTAGAAGACCTCCCTGAATCTAACAATT... |
Task1_train_10485 | This variant lies on Chromosome 6 and affects the gene MMUT (methylmalonyl-CoA mutase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Methylmalonic acidemia | AAGCAAAGAGTGAATAATGGGGGGAAATATAAACAAATTGCTCACAGGAAAATGAAGGAGGAAAATGTGTCCCTATGGAAGGATTTTTCCCATCATTCTTATTGGGAAAGATGAGCCTAATTCAAGGGTGAATATTAGGGACCTCCTTGAGGTTGCAGATATGAGTGATAAGTGATATCTTCCAATTCAGCTTTTAGCAGAAATAAAGCTGATATTCCAATCCCCATTTGTCTGATACCAGTGTCTACTTCACAACTGCATCTGAATTTCGGAGGGAAATTTAAAAATGTAAGTAGAAGACCTCCCTGAATCTAACAATT... | AAGCAAAGAGTGAATAATGGGGGGAAATATAAACAAATTGCTCACAGGAAAATGAAGGAGGAAAATGTGTCCCTATGGAAGGATTTTTCCCATCATTCTTATTGGGAAAGATGAGCCTAATTCAAGGGTGAATATTAGGGACCTCCTTGAGGTTGCAGATATGAGTGATAAGTGATATCTTCCAATTCAGCTTTTAGCAGAAATAAAGCTGATATTCCAATCCCCATTTGTCTGATACCAGTGTCTACTTCACAACTGCATCTGAATTTCGGAGGGAAATTTAAAAATGTAAGTAGAAGACCTCCCTGAATCTAACAATT... |
Task1_train_10486 | The gene MMUT (methylmalonyl-CoA mutase) on Chromosome 6 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | AAATTTAAAAATGTAAGTAGAAGACCTCCCTGAATCTAACAATTATCAGAGTTAAATTTTAGGAATAAAGAAAACACAGTAAAGATCTGTTGCCCAGATTCCTGCAAGTAACGACAGAACATAAAATTAGTACATTAAAAACAAAAAGTAACAATAACAAAACATTCTAAATTTATATTACTCAGACTAAATTTTTAAATTCAGTTATAGCATGTTGTAAAAATTCCTACATTCAAGGAACTATAGAAAAACCTATAATAACCACAAAGTATACCTTTGCTGTATATTCAAATATGTCAGCAATAATTTTCATGGATGGT... | AAATTTAAAAATGTAAGTAGAAGACCTCCCTGAATCTAACAATTATCAGAGTTAAATTTTAGGAATAAAGAAAACACAGTAAAGATCTGTTGCCCAGATTCCTGCAAGTAACGACAGAACATAAAATTAGTACATTAAAAACAAAAAGTAACAATAACAAAACATTCTAAATTTATATTACTCAGACTAAATTTTTAAATTCAGTTATAGCATGTTGTAAAAATTCCTACATTCAAGGAACTATAGAAAAACCTATAATAACCACAAAGTATACCTTTGCTGTATATTCAAATATGTCAGCAATAATTTTCATGGATGGT... |
Task1_train_10487 | Assess the clinical impact of this variant on gene MMUT (methylmalonyl-CoA mutase), found on Chromosome 6. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; METHYLMALONIC ACIDURIA, mut(0) TYPE | AAATTTAAAAATGTAAGTAGAAGACCTCCCTGAATCTAACAATTATCAGAGTTAAATTTTAGGAATAAAGAAAACACAGTAAAGATCTGTTGCCCAGATTCCTGCAAGTAACGACAGAACATAAAATTAGTACATTAAAAACAAAAAGTAACAATAACAAAACATTCTAAATTTATATTACTCAGACTAAATTTTTAAATTCAGTTATAGCATGTTGTAAAAATTCCTACATTCAAGGAACTATAGAAAAACCTATAATAACCACAAAGTATACCTTTGCTGTATATTCAAATATGTCAGCAATAATTTTCATGGATGGT... | AAATTTAAAAATGTAAGTAGAAGACCTCCCTGAATCTAACAATTATCAGAGTTAAATTTTAGGAATAAAGAAAACACAGTAAAGATCTGTTGCCCAGATTCCTGCAAGTAACGACAGAACATAAAATTAGTACATTAAAAACAAAAAGTAACAATAACAAAACATTCTAAATTTATATTACTCAGACTAAATTTTTAAATTCAGTTATAGCATGTTGTAAAAATTCCTACATTCAAGGAACTATAGAAAAACCTATAATAACCACAAAGTATACCTTTGCTGTATATTCAAATATGTCAGCAATAATTTTCATGGATGGT... |
Task1_train_10488 | Given a variant located on Chromosome 6 and affecting RHAG (Rh associated glycoprotein), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Rh-null, regulator type | TCTTGGGAACATTTCAGGACTCCAAGGCTAGAAGAAAAATCTTTAAAAGCTTCCAGATAGAAAAAATAAGTTATTTGATTTTCTTAAAAATGATTTTTTGACGATGTCAGTTATCTTTTCTAAAATTTAACTTTTTACAACATTCTATAATGAGACATTAACTTGATTTTTTAAAAATAGCAAATACATGATAAATATTTAAATTGAGTGTGGACTAAATATGAAGTGTGTGTGTGTGCACCTGTGTGCTTGTTACTGACATGAATTCCAACTACCAAAGAAAGGAGAGTCAAAGACTGATGTTTTATTTTATAACAATA... | TCTTGGGAACATTTCAGGACTCCAAGGCTAGAAGAAAAATCTTTAAAAGCTTCCAGATAGAAAAAATAAGTTATTTGATTTTCTTAAAAATGATTTTTTGACGATGTCAGTTATCTTTTCTAAAATTTAACTTTTTACAACATTCTATAATGAGACATTAACTTGATTTTTTAAAAATAGCAAATACATGATAAATATTTAAATTGAGTGTGGACTAAATATGAAGTGTGTGTGTGTGCACCTGTGTGCTTGTTACTGACATGAATTCCAACTACCAAAGAAAGGAGAGTCAAAGACTGATGTTTTATTTTATAACAATA... |
Task1_train_10489 | Given this context: Chromosome 6, gene RHAG (Rh associated glycoprotein) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Overhydrated hereditary stomatocytosis | CTAGAAGGGATTTTGGAGAATAAATACTCCAATCTTCTTATTTTACAGAGGAGAAGACTGAAAACCAGAAATGCTGAGTGATACCTCAGAGGTCACATAACTAGTTAGTAGCAGAGTTGGGGCCATATACCAGTGTTGTTGATTCTGCAGAACCAACTGCTTTCTGTATTATTCCAACTCATCCTTCTTTGTGTGGATTGGATGGAACTGACTGTTCAGCTCATCATATGTGCCTCCTCCTCCATTTTGGAGAGATCAAGAAAAAGACTAATCCTTCTATAATCTGACTGTGATTATCAAATTTCCCTGTCTGCTAGGAG... | CTAGAAGGGATTTTGGAGAATAAATACTCCAATCTTCTTATTTTACAGAGGAGAAGACTGAAAACCAGAAATGCTGAGTGATACCTCAGAGGTCACATAACTAGTTAGTAGCAGAGTTGGGGCCATATACCAGTGTTGTTGATTCTGCAGAACCAACTGCTTTCTGTATTATTCCAACTCATCCTTCTTTGTGTGGATTGGATGGAACTGACTGTTCAGCTCATCATATGTGCCTCCTCCTCCATTTTGGAGAGATCAAGAAAAAGACTAATCCTTCTATAATCTGACTGTGATTATCAAATTTCCCTGTCTGCTAGGAG... |
Task1_train_10490 | The variant affects gene RHAG (Rh associated glycoprotein), which is on Chromosome 6. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Overhydrated hereditary stomatocytosis | TACCCACTCTCAACAGAGTTTGTGGTGAGACTTAGATAAGAACATATTTCTAAAGTGCTAGTTCCCTGGTGGGCACACAAGACATGCAAGGTTGCTTCTCTAGGTGATGGAGATTTTGAGTGAAATATGTATTGCTCAGCCTGGCCTGGTGGTGCACGCCTTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGACTTGAGCCTAGGAGTTTGAGGTTACAGTGAGCTATGATTGTCACATTGCATTCCAGCCTAGGTGACAAAGCAAGAACTAATCTCAAACCAAAAAAAAAAAAAAAAAAAAAGATACTGCT... | TACCCACTCTCAACAGAGTTTGTGGTGAGACTTAGATAAGAACATATTTCTAAAGTGCTAGTTCCCTGGTGGGCACACAAGACATGCAAGGTTGCTTCTCTAGGTGATGGAGATTTTGAGTGAAATATGTATTGCTCAGCCTGGCCTGGTGGTGCACGCCTTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGACTTGAGCCTAGGAGTTTGAGGTTACAGTGAGCTATGATTGTCACATTGCATTCCAGCCTAGGTGACAAAGCAAGAACTAATCTCAAACCAAAAAAAAAAAAAAAAAAAAAGATACTGCT... |
Task1_train_10491 | Assess the clinical impact of this variant on gene RHAG (Rh associated glycoprotein), found on Chromosome 6. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Rh mod blood group phenotype | TTTTAGGTCCAGCGTAACTGTCACTTACTCAGGGAACCCCTCCTTGATTCTACAATCTAATCTTCCAGTTACACTTTCTCATAGACCTACCCTACATATTTTTCATAGCATGTATTGCAATTTATAATAACATTTGTGTGTTTGTGTCTTTGGGTGGGTGGATGAATGTGTAATTCTTTATTTGGTTTCTGTCTCTCCCACTAGAGTGTAAGCTCTATAAAAACAGGAACTTTCATATTTTGTTTGTCATTGAGTCCCCAACATCTAGAAAGTTATCAAAAATATTTGCAGTTGAATTAATGTTAATAGAAATACAAACA... | TTTTAGGTCCAGCGTAACTGTCACTTACTCAGGGAACCCCTCCTTGATTCTACAATCTAATCTTCCAGTTACACTTTCTCATAGACCTACCCTACATATTTTTCATAGCATGTATTGCAATTTATAATAACATTTGTGTGTTTGTGTCTTTGGGTGGGTGGATGAATGTGTAATTCTTTATTTGGTTTCTGTCTCTCCCACTAGAGTGTAAGCTCTATAAAAACAGGAACTTTCATATTTTGTTTGTCATTGAGTCCCCAACATCTAGAAAGTTATCAAAAATATTTGCAGTTGAATTAATGTTAATAGAAATACAAACA... |
Task1_train_10492 | Located on Chromosome 6, this mutation impacts RHAG (Rh associated glycoprotein). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not provided | CTTGATTCTACAATCTAATCTTCCAGTTACACTTTCTCATAGACCTACCCTACATATTTTTCATAGCATGTATTGCAATTTATAATAACATTTGTGTGTTTGTGTCTTTGGGTGGGTGGATGAATGTGTAATTCTTTATTTGGTTTCTGTCTCTCCCACTAGAGTGTAAGCTCTATAAAAACAGGAACTTTCATATTTTGTTTGTCATTGAGTCCCCAACATCTAGAAAGTTATCAAAAATATTTGCAGTTGAATTAATGTTAATAGAAATACAAACAAAGTAACAAAGTACTAGAATGCCCCTAAATGTTCTTTATTTA... | CTTGATTCTACAATCTAATCTTCCAGTTACACTTTCTCATAGACCTACCCTACATATTTTTCATAGCATGTATTGCAATTTATAATAACATTTGTGTGTTTGTGTCTTTGGGTGGGTGGATGAATGTGTAATTCTTTATTTGGTTTCTGTCTCTCCCACTAGAGTGTAAGCTCTATAAAAACAGGAACTTTCATATTTTGTTTGTCATTGAGTCCCCAACATCTAGAAAGTTATCAAAAATATTTGCAGTTGAATTAATGTTAATAGAAATACAAACAAAGTAACAAAGTACTAGAATGCCCCTAAATGTTCTTTATTTA... |
Task1_train_10493 | The variant affects gene RHAG (Rh associated glycoprotein), which is on Chromosome 6. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Overhydrated hereditary stomatocytosis | ATCTAATCTTCCAGTTACACTTTCTCATAGACCTACCCTACATATTTTTCATAGCATGTATTGCAATTTATAATAACATTTGTGTGTTTGTGTCTTTGGGTGGGTGGATGAATGTGTAATTCTTTATTTGGTTTCTGTCTCTCCCACTAGAGTGTAAGCTCTATAAAAACAGGAACTTTCATATTTTGTTTGTCATTGAGTCCCCAACATCTAGAAAGTTATCAAAAATATTTGCAGTTGAATTAATGTTAATAGAAATACAAACAAAGTAACAAAGTACTAGAATGCCCCTAAATGTTCTTTATTTATTTATTATTCCT... | ATCTAATCTTCCAGTTACACTTTCTCATAGACCTACCCTACATATTTTTCATAGCATGTATTGCAATTTATAATAACATTTGTGTGTTTGTGTCTTTGGGTGGGTGGATGAATGTGTAATTCTTTATTTGGTTTCTGTCTCTCCCACTAGAGTGTAAGCTCTATAAAAACAGGAACTTTCATATTTTGTTTGTCATTGAGTCCCCAACATCTAGAAAGTTATCAAAAATATTTGCAGTTGAATTAATGTTAATAGAAATACAAACAAAGTAACAAAGTACTAGAATGCCCCTAAATGTTCTTTATTTATTTATTATTCCT... |
Task1_train_10494 | Given this context: Chromosome 6, gene RHAG (Rh associated glycoprotein) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Rh mod blood group phenotype | TGTAGAAGAGCGATGTGACTACTAAACTATATTTTTAAACAGATTTATTGAGATATAATTGACGTATACAATTATATACATTTGAGGTATACAACTTGACATTTTGATATGCATATACTTTGTGAAATGATCACTACAATCAAGCTAGTTAACACATTCATTACCTCTACATTGTTATTATTGTGTGTGTACACCTGTGTGTGTGTGTGTGTGTGTGTTTGTGTATACCTGTGTGTGTCGGGGGGGTGGGGCGAGGGGTGATCAGATTAAATTGAAGCAATATCCACTCAGCAAATTACAAATATCCATACGGTATTGTT... | TGTAGAAGAGCGATGTGACTACTAAACTATATTTTTAAACAGATTTATTGAGATATAATTGACGTATACAATTATATACATTTGAGGTATACAACTTGACATTTTGATATGCATATACTTTGTGAAATGATCACTACAATCAAGCTAGTTAACACATTCATTACCTCTACATTGTTATTATTGTGTGTGTACACCTGTGTGTGTGTGTGTGTGTGTGTTTGTGTATACCTGTGTGTGTCGGGGGGGTGGGGCGAGGGGTGATCAGATTAAATTGAAGCAATATCCACTCAGCAAATTACAAATATCCATACGGTATTGTT... |
Task1_train_10495 | A genomic change on Chromosome 6 affects TFAP2B (transcription factor AP-2 beta). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Char syndrome | TTCTATACAACCTCCCAGCACTGTTCTCCCTCACTGCCTTATCCAAAGGAGCAGGGGCTGCTTTACTCGTGTCCCCGGCACAGTTAATTGAAGTTCTGCCTCTTTCCTGCTAAACTTTTTCCCCAGTCTGCCTTTGCCAGCCCCCTCGTCTGATTACATCTAGTAATTCTCCACTGAATGAACGTCATTTACAATAGTAGGGGAGCTCTGCGCTCGCTGCTGCTTCACGCTCCATTTGTCCTCTATTCTCCCTTTAAAGTACTCGTGTAATATTAATAGTCATGAATATCAATTATTATGAGGCGGTGTAGGCAAGCGGA... | TTCTATACAACCTCCCAGCACTGTTCTCCCTCACTGCCTTATCCAAAGGAGCAGGGGCTGCTTTACTCGTGTCCCCGGCACAGTTAATTGAAGTTCTGCCTCTTTCCTGCTAAACTTTTTCCCCAGTCTGCCTTTGCCAGCCCCCTCGTCTGATTACATCTAGTAATTCTCCACTGAATGAACGTCATTTACAATAGTAGGGGAGCTCTGCGCTCGCTGCTGCTTCACGCTCCATTTGTCCTCTATTCTCCCTTTAAAGTACTCGTGTAATATTAATAGTCATGAATATCAATTATTATGAGGCGGTGTAGGCAAGCGGA... |
Task1_train_10496 | This variant impacts the gene TFAP2B (transcription factor AP-2 beta) on Chromosome 6. Is the change likely to result in a pathogenic outcome? | Pathogenic; Char syndrome | GAAGAGTAAGATAGACTGAAATAGATGCCCCCACCAATCACCTGTCTATTAAGTGACTTTAACTTCACATCTCACTCAAATCTGATTAACATTCACACTTCAACTTTTCATTGATTCATTCTTAAATGGGAAGCAGATTCACTGATGAGAAAATGAGGGAAATCAAAAAGAAGGAACACCTCTCTATATCCCCTGTCCCCGCCCCATGACAGGGCAGAATATTTACTCTGTTGCCAACATCAATTCATCCATCTGGGACAAGGTCTTGGGCTCTGTGGACAGATCCATAGATCCTAAAATGCCTACTGGGTAGTAGCAGA... | GAAGAGTAAGATAGACTGAAATAGATGCCCCCACCAATCACCTGTCTATTAAGTGACTTTAACTTCACATCTCACTCAAATCTGATTAACATTCACACTTCAACTTTTCATTGATTCATTCTTAAATGGGAAGCAGATTCACTGATGAGAAAATGAGGGAAATCAAAAAGAAGGAACACCTCTCTATATCCCCTGTCCCCGCCCCATGACAGGGCAGAATATTTACTCTGTTGCCAACATCAATTCATCCATCTGGGACAAGGTCTTGGGCTCTGTGGACAGATCCATAGATCCTAAAATGCCTACTGGGTAGTAGCAGA... |
Task1_train_10497 | Chromosome 6 houses a mutation in gene TFAP2B (transcription factor AP-2 beta). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Char syndrome | GAAGAGTAAGATAGACTGAAATAGATGCCCCCACCAATCACCTGTCTATTAAGTGACTTTAACTTCACATCTCACTCAAATCTGATTAACATTCACACTTCAACTTTTCATTGATTCATTCTTAAATGGGAAGCAGATTCACTGATGAGAAAATGAGGGAAATCAAAAAGAAGGAACACCTCTCTATATCCCCTGTCCCCGCCCCATGACAGGGCAGAATATTTACTCTGTTGCCAACATCAATTCATCCATCTGGGACAAGGTCTTGGGCTCTGTGGACAGATCCATAGATCCTAAAATGCCTACTGGGTAGTAGCAGA... | GAAGAGTAAGATAGACTGAAATAGATGCCCCCACCAATCACCTGTCTATTAAGTGACTTTAACTTCACATCTCACTCAAATCTGATTAACATTCACACTTCAACTTTTCATTGATTCATTCTTAAATGGGAAGCAGATTCACTGATGAGAAAATGAGGGAAATCAAAAAGAAGGAACACCTCTCTATATCCCCTGTCCCCGCCCCATGACAGGGCAGAATATTTACTCTGTTGCCAACATCAATTCATCCATCTGGGACAAGGTCTTGGGCTCTGTGGACAGATCCATAGATCCTAAAATGCCTACTGGGTAGTAGCAGA... |
Task1_train_10498 | The gene TFAP2B (transcription factor AP-2 beta) on Chromosome 6 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Char syndrome | GGAATAAACACTTCCTCCCTCAGCTTTCCACTTGGTGTCTGTCCTGTGGCCTCACACAGAGACACATTCTATCAGCCGGTCATCAGGATCGAAACTTGGTCACCTTTATGGCAATTTTTTCTCTCTTTCTAGTTCCAGTTCCTCCCAAATCGGTGACTTCTCTAATGATGAATAAAGACGGCTTCCTGGGAGGCATGTCTGTCAACACCGGCGAGGTGTTTTGCTCCGTCCCAGGCCGTTTGTCTCTGCTCAGTTCAACTTCGAAGTACAAAGTAACTGTGGGAGAAGTTCAGAGACGGCTGTCGCCCCCTGAATGCCTC... | GGAATAAACACTTCCTCCCTCAGCTTTCCACTTGGTGTCTGTCCTGTGGCCTCACACAGAGACACATTCTATCAGCCGGTCATCAGGATCGAAACTTGGTCACCTTTATGGCAATTTTTTCTCTCTTTCTAGTTCCAGTTCCTCCCAAATCGGTGACTTCTCTAATGATGAATAAAGACGGCTTCCTGGGAGGCATGTCTGTCAACACCGGCGAGGTGTTTTGCTCCGTCCCAGGCCGTTTGTCTCTGCTCAGTTCAACTTCGAAGTACAAAGTAACTGTGGGAGAAGTTCAGAGACGGCTGTCGCCCCCTGAATGCCTC... |
Task1_train_10499 | This alteration in TFAP2B (transcription factor AP-2 beta) on Chromosome 6 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | GCCGGTCATCAGGATCGAAACTTGGTCACCTTTATGGCAATTTTTTCTCTCTTTCTAGTTCCAGTTCCTCCCAAATCGGTGACTTCTCTAATGATGAATAAAGACGGCTTCCTGGGAGGCATGTCTGTCAACACCGGCGAGGTGTTTTGCTCCGTCCCAGGCCGTTTGTCTCTGCTCAGTTCAACTTCGAAGTACAAAGTAACTGTGGGAGAAGTTCAGAGACGGCTGTCGCCCCCTGAATGCCTCAATGCATCTCTCCTCGGCGGAGTCCTCAGAAGGTAACCCCACCACGAAAAACAAAAACAAAAACAAAAAAACAA... | GCCGGTCATCAGGATCGAAACTTGGTCACCTTTATGGCAATTTTTTCTCTCTTTCTAGTTCCAGTTCCTCCCAAATCGGTGACTTCTCTAATGATGAATAAAGACGGCTTCCTGGGAGGCATGTCTGTCAACACCGGCGAGGTGTTTTGCTCCGTCCCAGGCCGTTTGTCTCTGCTCAGTTCAACTTCGAAGTACAAAGTAACTGTGGGAGAAGTTCAGAGACGGCTGTCGCCCCCTGAATGCCTCAATGCATCTCTCCTCGGCGGAGTCCTCAGAAGGTAACCCCACCACGAAAAACAAAAACAAAAACAAAAAAACAA... |
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