ID stringlengths 13 17 | question stringlengths 88 1.13k | answer stringlengths 6 156 | reference_sequence stringlengths 4.1k 4.1k | variant_sequence stringlengths 4.1k 4.1k |
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Task1_train_21800 | This mutation occurs in RLBP1 (retinaldehyde binding protein 1) on Chromosome 15. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Autosomal recessive retinitis pigmentosa | ATTTAAGTCTCTTCCTTAATACACACAGATAGGCAGGTGTGCATTTCAGTCCTACAGCCAGTGTCTTATTTGATGGGAAAACCCTAGAGGCATCCTTACTAAGATCAGGAATTAGATAAAGACTTCACCATCTCTGCCACCATTTAATTCTATATTGAAAGTACTAACCAATGCAATCAATTTGTTAAAAAAAAAAAAATCAGGGGCATAAGAAGTGGAAAGGGAGAAGAAAAACTATCTCCTCTACTTACAGATAGTATTATAGTATACTTAGAAAACCCCAGAGAATCCATTATAAAACTAACATAAATTTTAAAAGA... | ATTTAAGTCTCTTCCTTAATACACACAGATAGGCAGGTGTGCATTTCAGTCCTACAGCCAGTGTCTTATTTGATGGGAAAACCCTAGAGGCATCCTTACTAAGATCAGGAATTAGATAAAGACTTCACCATCTCTGCCACCATTTAATTCTATATTGAAAGTACTAACCAATGCAATCAATTTGTTAAAAAAAAAAAAATCAGGGGCATAAGAAGTGGAAAGGGAGAAGAAAAACTATCTCCTCTACTTACAGATAGTATTATAGTATACTTAGAAAACCCCAGAGAATCCATTATAAAACTAACATAAATTTTAAAAGA... |
Task1_train_21801 | A mutation found in RLBP1 (retinaldehyde binding protein 1) on Chromosome 15 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | TGACACACTTCATTCATTCATTCGTTCGCTCATTATCAGAGCTGACCCATTTTACAGGTAAGGATGTGGAGGCTCAGAGAAACTGACTTGCCCACAGTATGGAAGCAGGCCTGTTCAGTGCCAGGATGAGAGCGGATAGCATCCTCATGGCCTCCCGTCTTCCCAGGGCCGTCCCTCCAAGCACTGGCCTCACCTCTGAGCAGCTCATAGGCACGGCCCACGTTGAACTTCCGTGCGCGGATGAAGCGCAGGAAGAAGCCGCTGTCCTTCTCTTGCACCCTCTCCGCCACGGCCACCGCCAGCTCCTCCCCCGAGGCCGC... | TGACACACTTCATTCATTCATTCGTTCGCTCATTATCAGAGCTGACCCATTTTACAGGTAAGGATGTGGAGGCTCAGAGAAACTGACTTGCCCACAGTATGGAAGCAGGCCTGTTCAGTGCCAGGATGAGAGCGGATAGCATCCTCATGGCCTCCCGTCTTCCCAGGGCCGTCCCTCCAAGCACTGGCCTCACCTCTGAGCAGCTCATAGGCACGGCCCACGTTGAACTTCCGTGCGCGGATGAAGCGCAGGAAGAAGCCGCTGTCCTTCTCTTGCACCCTCTCCGCCACGGCCACCGCCAGCTCCTCCCCCGAGGCCGC... |
Task1_train_21802 | Located on Chromosome 15, this mutation impacts FANCI (FA complementation group I). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Fanconi anemia complementation group I | TTTAAGTTCCAGATGGAAACATGTGGAAGGGCCTGTGGCAGAAAGAACTTGGAGATTTGAAGGACTGGAAGCAATTCTGCATGGCTGGAGCAGAGTGATGAAAGGGAGGTAGGCATGGGTCAGAACTTGCAGGACTTATTTTATCCTTACTTAAGGGTTTTGGACTGATAAAGCAATGGAAGCCACTGAAGAGCTTTAAGATGAGGATGGCATGGAGGGAAGATAAGTCACATAATCAGGTTTGTGTTTCAAAAACATCACTTTAGTTGCTGCGTAGAAGGGAACAAGTTAGGAAACGATTGCAGTAGTTCAGGTGAGAG... | TTTAAGTTCCAGATGGAAACATGTGGAAGGGCCTGTGGCAGAAAGAACTTGGAGATTTGAAGGACTGGAAGCAATTCTGCATGGCTGGAGCAGAGTGATGAAAGGGAGGTAGGCATGGGTCAGAACTTGCAGGACTTATTTTATCCTTACTTAAGGGTTTTGGACTGATAAAGCAATGGAAGCCACTGAAGAGCTTTAAGATGAGGATGGCATGGAGGGAAGATAAGTCACATAATCAGGTTTGTGTTTCAAAAACATCACTTTAGTTGCTGCGTAGAAGGGAACAAGTTAGGAAACGATTGCAGTAGTTCAGGTGAGAG... |
Task1_train_21803 | This variant affects gene FANCI (FA complementation group I) located on Chromosome 15. Evaluate its biological effect and specify any disease association. | Pathogenic; Fanconi anemia complementation group I | AGGCTGGTCTTGAACTTCTGAGCTCAAGCAATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGGTCCTGGCCGTTTCTTTTCCTTTTTAAAGGAAACAGTCTCACTATGTTGCCCAGGCTGGAGTGCAATGGCTATTCACAGGCTCTATTATAGCACGGTAAAGCCTCAAACTCCTGGCCTCAAGTGATGCTCCCACCTCAGTAGCTGGGACTATAGGCATGTAGCCCTGTGCCTGGCTTGGCCTTTCTTCTTTTTTTTTTTTTTTTTTTTCTGAAGACGTAGGAACTTTTCACTATGTTG... | AGGCTGGTCTTGAACTTCTGAGCTCAAGCAATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGGTCCTGGCCGTTTCTTTTCCTTTTTAAAGGAAACAGTCTCACTATGTTGCCCAGGCTGGAGTGCAATGGCTATTCACAGGCTCTATTATAGCACGGTAAAGCCTCAAACTCCTGGCCTCAAGTGATGCTCCCACCTCAGTAGCTGGGACTATAGGCATGTAGCCCTGTGCCTGGCTTGGCCTTTCTTCTTTTTTTTTTTTTTTTTTTTCTGAAGACGTAGGAACTTTTCACTATGTTG... |
Task1_train_21804 | A variant was discovered in gene FANCI (FA complementation group I), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Fanconi anemia complementation group I | ATCTTTCAAACTGTAATCAACACATCTACATTCACACGTTTAACAAAAATAGAAAATTATGTTTGAAGGCATAGAATAGCGCTTTCTGACTCAGGTTAATATGCAGGACAGTAAAATTCTGCAGACTCCAAAAGTTAAAAGGAGAAAAATAATAACTCATATTTTTTTTGGCTGTCTTATATGCCAAATACTGTTTGAAGTACTTTACATGTATTGTCATGTTTAATCCTTATACAATGATTATTAATAATATCCTCATTTTTAAGATGAGGAATCACGGTACAGATACTTTTATAAAAACCAGTAATAAGTAGTGGTAC... | ATCTTTCAAACTGTAATCAACACATCTACATTCACACGTTTAACAAAAATAGAAAATTATGTTTGAAGGCATAGAATAGCGCTTTCTGACTCAGGTTAATATGCAGGACAGTAAAATTCTGCAGACTCCAAAAGTTAAAAGGAGAAAAATAATAACTCATATTTTTTTTGGCTGTCTTATATGCCAAATACTGTTTGAAGTACTTTACATGTATTGTCATGTTTAATCCTTATACAATGATTATTAATAATATCCTCATTTTTAAGATGAGGAATCACGGTACAGATACTTTTATAAAAACCAGTAATAAGTAGTGGTAC... |
Task1_train_21805 | The following genetic variant occurs in FANCI (FA complementation group I) on Chromosome 15. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Fanconi anemia complementation group I | TAAAAAATAATATCTGTGCTTTTCTTGTGATGGGAGTTTGTGAGGTTTTAATAGAATACAATTTCTCCATAAGTAGTTTCAGGTAAGGTTTTGCTATAACTCCATTTGTAATTTGATGAATTCTCCATTTTATTTACATATTTTTACTGTAGCAGTATTCTAGGCAGTAAACAGACCACAGACGATGACACTGTCTCTTAAATGAGCACCTAGTCTAAGACTAAACTGTGTTCTTTCCACTAGAGAGCGCTGAAGTATATGCTTACCAGGCCTATAAAATGAAAGCCTTCCAGCAGGGTTTCACTTACTCAGAATTTCCC... | TAAAAAATAATATCTGTGCTTTTCTTGTGATGGGAGTTTGTGAGGTTTTAATAGAATACAATTTCTCCATAAGTAGTTTCAGGTAAGGTTTTGCTATAACTCCATTTGTAATTTGATGAATTCTCCATTTTATTTACATATTTTTACTGTAGCAGTATTCTAGGCAGTAAACAGACCACAGACGATGACACTGTCTCTTAAATGAGCACCTAGTCTAAGACTAAACTGTGTTCTTTCCACTAGAGAGCGCTGAAGTATATGCTTACCAGGCCTATAAAATGAAAGCCTTCCAGCAGGGTTTCACTTACTCAGAATTTCCC... |
Task1_train_21806 | This alteration occurs within gene FANCI (FA complementation group I) located on Chromosome 15. Is it associated with a disease or is it a benign variant? | Pathogenic; Fanconi anemia complementation group I | TATGGAAAACTGTTCAGCAATATCTACTAAAATTAAACATATGCCTATGACTCAACAATTCGAATCACAACAGAAAAATGTGGAAGAATTCTCTTAGCAGCACTATTTTAGTAGGTAAAACAAACCTAAGTGTTCATCAGCAGTAGAAAGGATAAAAGAATTATGATATATTCACACAGTGGAATCCTATACAGCAAATAAGCATGAACAAACTACATGTACACACAACTTGGAGAGGATCTCACAAATGTACTGTAAAACAAAAGAAGCCAGACACAAGAAAGGGTACTTACTGTAGAATTCCGTTTAGATGAAGTTCA... | TATGGAAAACTGTTCAGCAATATCTACTAAAATTAAACATATGCCTATGACTCAACAATTCGAATCACAACAGAAAAATGTGGAAGAATTCTCTTAGCAGCACTATTTTAGTAGGTAAAACAAACCTAAGTGTTCATCAGCAGTAGAAAGGATAAAAGAATTATGATATATTCACACAGTGGAATCCTATACAGCAAATAAGCATGAACAAACTACATGTACACACAACTTGGAGAGGATCTCACAAATGTACTGTAAAACAAAAGAAGCCAGACACAAGAAAGGGTACTTACTGTAGAATTCCGTTTAGATGAAGTTCA... |
Task1_train_21807 | Gene FANCI (FA complementation group I) on Chromosome 15 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Fanconi anemia complementation group I | TACATTGTGAGTGAATTGTATGGTATATGAATTACAGCTCTATCAAGCTGTTAGAAAAAATTGTGTGTATTATATACATGGCTGCTTCTCAACTCAGGGATTTTATGATCAGATGGAGCATCTTATTTTTCCTCTGAACCAAAAACATGTTTTATTCACGAAGCACCAGAAAATCTTGAGTTGAAATGGAAATAGTAAAATAACTTACGATACTCAATTGGGAGAAATTATTTTTAGGTAAAGTTGGTGAATGCAAAAGGTGCTCCCTAAAAGATGTGTAAGAGTCAGCGGGGGTACAGGAAAGGAGGCACTTAGTACAT... | TACATTGTGAGTGAATTGTATGGTATATGAATTACAGCTCTATCAAGCTGTTAGAAAAAATTGTGTGTATTATATACATGGCTGCTTCTCAACTCAGGGATTTTATGATCAGATGGAGCATCTTATTTTTCCTCTGAACCAAAAACATGTTTTATTCACGAAGCACCAGAAAATCTTGAGTTGAAATGGAAATAGTAAAATAACTTACGATACTCAATTGGGAGAAATTATTTTTAGGTAAAGTTGGTGAATGCAAAAGGTGCTCCCTAAAAGATGTGTAAGAGTCAGCGGGGGTACAGGAAAGGAGGCACTTAGTACAT... |
Task1_train_21808 | Here’s a variant in FANCI (FA complementation group I) located on Chromosome 15. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Fanconi anemia | TACATTGTGAGTGAATTGTATGGTATATGAATTACAGCTCTATCAAGCTGTTAGAAAAAATTGTGTGTATTATATACATGGCTGCTTCTCAACTCAGGGATTTTATGATCAGATGGAGCATCTTATTTTTCCTCTGAACCAAAAACATGTTTTATTCACGAAGCACCAGAAAATCTTGAGTTGAAATGGAAATAGTAAAATAACTTACGATACTCAATTGGGAGAAATTATTTTTAGGTAAAGTTGGTGAATGCAAAAGGTGCTCCCTAAAAGATGTGTAAGAGTCAGCGGGGGTACAGGAAAGGAGGCACTTAGTACAT... | TACATTGTGAGTGAATTGTATGGTATATGAATTACAGCTCTATCAAGCTGTTAGAAAAAATTGTGTGTATTATATACATGGCTGCTTCTCAACTCAGGGATTTTATGATCAGATGGAGCATCTTATTTTTCCTCTGAACCAAAAACATGTTTTATTCACGAAGCACCAGAAAATCTTGAGTTGAAATGGAAATAGTAAAATAACTTACGATACTCAATTGGGAGAAATTATTTTTAGGTAAAGTTGGTGAATGCAAAAGGTGCTCCCTAAAAGATGTGTAAGAGTCAGCGGGGGTACAGGAAAGGAGGCACTTAGTACAT... |
Task1_train_21809 | The gene POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Mitochondrial disease | ACTCTTCCTAGCTGGTTAGCAGCCTATCTGGGAGCAGTCACAGATTAGTGGAAGGGCAACAGAATGGGAAAGGGCTAAAAGGTGATCAGGCAAAGATGAGAGCAAAGGACTCTCAGAAGGGTTGTAAACTTTGGACCACACAAAATCCTATGAAGTTGCCCCGACTTGTTTGATAAACACTTCCAGGAAGCAGGTGGTAACAAAACAATGTCCTGCTGTGGGTCCTCTTCCTGTTAATCTTTTAAACTACTGGATGATGACCAGCTATAGCAGTCTGGCTCAGAAACTAGTTTACCTCTCATGTCATGCCCTCATTCAAA... | ACTCTTCCTAGCTGGTTAGCAGCCTATCTGGGAGCAGTCACAGATTAGTGGAAGGGCAACAGAATGGGAAAGGGCTAAAAGGTGATCAGGCAAAGATGAGAGCAAAGGACTCTCAGAAGGGTTGTAAACTTTGGACCACACAAAATCCTATGAAGTTGCCCCGACTTGTTTGATAAACACTTCCAGGAAGCAGGTGGTAACAAAACAATGTCCTGCTGTGGGTCCTCTTCCTGTTAATCTTTTAAACTACTGGATGATGACCAGCTATAGCAGTCTGGCTCAGAAACTAGTTTACCTCTCATGTCATGCCCTCATTCAAA... |
Task1_train_21810 | Consider this mutation in POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Is this a benign change or a disease-causing variant? | Pathogenic; Progressive sclerosing poliodystrophy | GAACAATTGCCACGAACGGTAATGTTACATGTTAGGAGGGTCTGTTTTCTTTTTATATAAGTGTGTCTTAGATATATTTTAAATAGAAAATAAGCTTTCTGATTTACTTGTTTGGTATTTAAAGCACAGTTTGTTTTTCTGTCACCTATAGAGTGCAAGAATGCACTCTATAGAATAAATTATCTTTAAACATTTCTTCTGTGGTTGAAGTAGGGGACAGGTACAGGTAGAATATTTGAAGCTCTGCTGCCTTCATTTCTGAAACATCATATCACATTCACTCTGGACACAGGGCACCTTATAAACTGAAATTAGCCTAG... | GAACAATTGCCACGAACGGTAATGTTACATGTTAGGAGGGTCTGTTTTCTTTTTATATAAGTGTGTCTTAGATATATTTTAAATAGAAAATAAGCTTTCTGATTTACTTGTTTGGTATTTAAAGCACAGTTTGTTTTTCTGTCACCTATAGAGTGCAAGAATGCACTCTATAGAATAAATTATCTTTAAACATTTCTTCTGTGGTTGAAGTAGGGGACAGGTACAGGTAGAATATTTGAAGCTCTGCTGCCTTCATTTCTGAAACATCATATCACATTCACTCTGGACACAGGGCACCTTATAAACTGAAATTAGCCTAG... |
Task1_train_21811 | A genomic change on Chromosome 15 affects POLG (DNA polymerase gamma, catalytic subunit). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Progressive sclerosing poliodystrophy | TTCACTCTGGCCCTACCTACAAACATTGGTAAGGTCCACAGGGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGC... | TTCACTCTGGCCCTACCTACAAACATTGGTAAGGTCCACAGGGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGC... |
Task1_train_21812 | A change on Chromosome 15 affects gene POLG (DNA polymerase gamma, catalytic subunit). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Mitochondrial DNA depletion syndrome | TCTGGCCCTACCTACAAACATTGGTAAGGTCCACAGGGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAA... | TCTGGCCCTACCTACAAACATTGGTAAGGTCCACAGGGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAA... |
Task1_train_21813 | The gene POLG (DNA polymerase gamma, catalytic subunit) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Progressive sclerosing poliodystrophy | TCTGGCCCTACCTACAAACATTGGTAAGGTCCACAGGGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAA... | TCTGGCCCTACCTACAAACATTGGTAAGGTCCACAGGGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAA... |
Task1_train_21814 | Given a variant located on Chromosome 15 and affecting POLG (DNA polymerase gamma, catalytic subunit), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Progressive sclerosing poliodystrophy | ACAAACATTGGTAAGGTCCACAGGGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCA... | ACAAACATTGGTAAGGTCCACAGGGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCA... |
Task1_train_21815 | The gene POLG, POLGARF (DNA polymerase gamma, catalytic subunit| POLG alternative reading frame) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | TAAGGTCCACAGGGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGG... | TAAGGTCCACAGGGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGG... |
Task1_train_21816 | Given a variant located on Chromosome 15 and affecting POLG (DNA polymerase gamma, catalytic subunit), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Progressive sclerosing poliodystrophy | GGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGA... | GGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGA... |
Task1_train_21817 | Gene POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Mitochondrial DNA depletion syndrome | CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCT... | CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCT... |
Task1_train_21818 | This mutation occurs in POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Progressive sclerosing poliodystrophy | CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCT... | CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCT... |
Task1_train_21819 | A variant found in Chromosome 15 affects POLG (DNA polymerase gamma, catalytic subunit). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Mitochondrial DNA depletion syndrome 4b | CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCT... | CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCT... |
Task1_train_21820 | Located on Chromosome 15, this mutation impacts POLG (DNA polymerase gamma, catalytic subunit). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCT... | CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCT... |
Task1_train_21821 | Given this context: Chromosome 15, gene POLG (DNA polymerase gamma, catalytic subunit) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Progressive sclerosing poliodystrophy | CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCT... | CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCT... |
Task1_train_21822 | This gene mutation involves POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Is it associated with any clinical condition, or is it benign? | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCT... | CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCT... |
Task1_train_21823 | A change on Chromosome 15 affects gene POLG (DNA polymerase gamma, catalytic subunit). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCT... | CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCT... |
Task1_train_21824 | The following genetic variant occurs in POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Mitochondrial disease | CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCT... | CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCT... |
Task1_train_21825 | A variant affecting Chromosome 15, within the gene POLG (DNA polymerase gamma, catalytic subunit), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | CTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCAT... | CTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCAT... |
Task1_train_21826 | This variant affects gene POLG (DNA polymerase gamma, catalytic subunit) located on Chromosome 15. Evaluate its biological effect and specify any disease association. | Pathogenic; Progressive sclerosing poliodystrophy | CTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTC... | CTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTC... |
Task1_train_21827 | Here is a genetic alteration in POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Progressive sclerosing poliodystrophy | GGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTC... | GGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTC... |
Task1_train_21828 | This variant affects the gene POLG (DNA polymerase gamma, catalytic subunit) found on Chromosome 15. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Mitochondrial DNA depletion syndrome | GGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTC... | GGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTC... |
Task1_train_21829 | A variant was discovered on Chromosome 15, affecting POLG (DNA polymerase gamma, catalytic subunit). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Progressive sclerosing poliodystrophy | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... |
Task1_train_21830 | This variant impacts the gene POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Is the change likely to result in a pathogenic outcome? | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... |
Task1_train_21831 | This alteration occurs within gene POLG (DNA polymerase gamma, catalytic subunit) located on Chromosome 15. Is it associated with a disease or is it a benign variant? | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... |
Task1_train_21832 | Given a variant located on Chromosome 15 and affecting POLG (DNA polymerase gamma, catalytic subunit), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Mitochondrial DNA depletion syndrome 4b | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... |
Task1_train_21833 | This is a variant in POLG (DNA polymerase gamma, catalytic subunit), located on Chromosome 15. Is this mutation a likely cause of disease or not? | Pathogenic; Mitochondrial disease | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... |
Task1_train_21834 | An alteration has been detected in POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Progressive sclerosing poliodystrophy | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... |
Task1_train_21835 | A variant was discovered in gene POLG (DNA polymerase gamma, catalytic subunit), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Progressive sclerosing poliodystrophy | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... |
Task1_train_21836 | This is a variant in POLG (DNA polymerase gamma, catalytic subunit), located on Chromosome 15. Is this mutation a likely cause of disease or not? | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... |
Task1_train_21837 | An alteration has been detected in POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... |
Task1_train_21838 | The variant affects gene POLG (DNA polymerase gamma, catalytic subunit), which is on Chromosome 15. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Mitochondrial DNA depletion syndrome 1 | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... |
Task1_train_21839 | Given a variant located on Chromosome 15 and affecting POLG (DNA polymerase gamma, catalytic subunit), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Mitochondrial DNA depletion syndrome 4b | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... |
Task1_train_21840 | This sequence variant lies in POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... |
Task1_train_21841 | Located on Chromosome 15, this mutation impacts POLG (DNA polymerase gamma, catalytic subunit). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; POLG-related disorder | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... |
Task1_train_21842 | The gene POLG (DNA polymerase gamma, catalytic subunit) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... |
Task1_train_21843 | This alteration occurs within gene POLG (DNA polymerase gamma, catalytic subunit) located on Chromosome 15. Is it associated with a disease or is it a benign variant? | Pathogenic; Mitochondrial DNA depletion syndrome | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... |
Task1_train_21844 | This genomic variant is located on Chromosome 15, within the POLG (DNA polymerase gamma, catalytic subunit) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; POLG-Related Spectrum Disorders | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... |
Task1_train_21845 | Here is a variant affecting POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hereditary spastic paraplegia | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... |
Task1_train_21846 | A variant was discovered in gene POLG (DNA polymerase gamma, catalytic subunit), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Progressive sclerosing poliodystrophy | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... |
Task1_train_21847 | A genetic alteration is present in POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... |
Task1_train_21848 | A mutation on Chromosome 15 affecting POLG (DNA polymerase gamma, catalytic subunit) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... |
Task1_train_21849 | A variant affecting Chromosome 15, within the gene POLG (DNA polymerase gamma, catalytic subunit), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Mitochondrial DNA depletion syndrome 4b | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... |
Task1_train_21850 | Gene POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... |
Task1_train_21851 | A mutation found in POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Inborn genetic diseases | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... | TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCC... |
Task1_train_21852 | The gene POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Progressive sclerosing poliodystrophy | GATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGA... | GATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGA... |
Task1_train_21853 | Gene POLG (DNA polymerase gamma, catalytic subunit), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Mitochondrial DNA depletion syndrome 4b | GATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGA... | GATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGA... |
Task1_train_21854 | This mutation occurs in POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | GATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGA... | GATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGA... |
Task1_train_21855 | A variant was discovered on Chromosome 15, affecting POLG (DNA polymerase gamma, catalytic subunit). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Progressive sclerosing poliodystrophy | GATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGA... | GATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGA... |
Task1_train_21856 | This variant affects gene POLG (DNA polymerase gamma, catalytic subunit) located on Chromosome 15. Evaluate its biological effect and specify any disease association. | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | GATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGA... | GATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGA... |
Task1_train_21857 | A variant on Chromosome 15 in gene POLG (DNA polymerase gamma, catalytic subunit) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | GATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGA... | GATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGA... |
Task1_train_21858 | The gene POLG (DNA polymerase gamma, catalytic subunit) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Mitochondrial DNA depletion syndrome | GATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGA... | GATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGA... |
Task1_train_21859 | A variant affecting Chromosome 15, within the gene POLG (DNA polymerase gamma, catalytic subunit), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Mitochondrial DNA depletion syndrome 4b | GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCT... | GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCT... |
Task1_train_21860 | An alteration has been detected in POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCT... | GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCT... |
Task1_train_21861 | A variant was discovered on Chromosome 15, affecting POLG (DNA polymerase gamma, catalytic subunit). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCT... | GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCT... |
Task1_train_21862 | The gene POLG (DNA polymerase gamma, catalytic subunit), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Progressive sclerosing poliodystrophy | GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCT... | GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCT... |
Task1_train_21863 | Assess the clinical impact of this variant on gene POLG (DNA polymerase gamma, catalytic subunit), found on Chromosome 15. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCT... | GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCT... |
Task1_train_21864 | Consider this mutation in POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Is this a benign change or a disease-causing variant? | Pathogenic; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCT... | GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCT... |
Task1_train_21865 | The gene POLG (DNA polymerase gamma, catalytic subunit) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Progressive sclerosing poliodystrophy | GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCT... | GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCT... |
Task1_train_21866 | Here is a genetic alteration in POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Inborn genetic diseases | GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCT... | GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCT... |
Task1_train_21867 | A mutation found in POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Progressive sclerosing poliodystrophy | TGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCC... | TGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCC... |
Task1_train_21868 | The gene POLG (DNA polymerase gamma, catalytic subunit), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | TTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAG... | TTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAG... |
Task1_train_21869 | This mutation is located in gene POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Progressive sclerosing poliodystrophy | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... |
Task1_train_21870 | This alteration in POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Progressive sclerosing poliodystrophy | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... |
Task1_train_21871 | Given a variant located on Chromosome 15 and affecting POLG (DNA polymerase gamma, catalytic subunit), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Mitochondrial DNA depletion syndrome 4b | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... |
Task1_train_21872 | Consider this mutation in POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Is this a benign change or a disease-causing variant? | Pathogenic; POLG-Related Spectrum Disorders | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... |
Task1_train_21873 | A variant on Chromosome 15 in gene POLG (DNA polymerase gamma, catalytic subunit) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Inborn genetic diseases | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... |
Task1_train_21874 | This variant affects the gene POLG (DNA polymerase gamma, catalytic subunit) found on Chromosome 15. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Neurodevelopmental delay | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... |
Task1_train_21875 | This variant lies on Chromosome 15 and affects the gene POLG (DNA polymerase gamma, catalytic subunit). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... |
Task1_train_21876 | This mutation is located in gene POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Progressive sclerosing poliodystrophy | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... |
Task1_train_21877 | With a mutation on Chromosome 15 in gene POLG (DNA polymerase gamma, catalytic subunit), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Mitochondrial DNA depletion syndrome 4b | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... |
Task1_train_21878 | This variant lies on Chromosome 15 and affects the gene POLG (DNA polymerase gamma, catalytic subunit). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... |
Task1_train_21879 | A variant has been detected on Chromosome 15 in POLG (DNA polymerase gamma, catalytic subunit). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... |
Task1_train_21880 | This variant lies on Chromosome 15 and affects the gene POLG (DNA polymerase gamma, catalytic subunit). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Progressive sclerosing poliodystrophy | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... |
Task1_train_21881 | The gene POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Mitochondrial DNA depletion syndrome 4b | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... |
Task1_train_21882 | A variant has been detected on Chromosome 15 in POLG (DNA polymerase gamma, catalytic subunit). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... |
Task1_train_21883 | Located on Chromosome 15, this mutation impacts POLG (DNA polymerase gamma, catalytic subunit). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... |
Task1_train_21884 | A change on Chromosome 15 affects gene POLG (DNA polymerase gamma, catalytic subunit). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... |
Task1_train_21885 | This mutation is located in gene POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; POLG-related disorder | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... |
Task1_train_21886 | Gene POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... |
Task1_train_21887 | This sequence change occurs on Chromosome 15, altering POLG (DNA polymerase gamma, catalytic subunit). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... |
Task1_train_21888 | This variant affects gene POLG (DNA polymerase gamma, catalytic subunit) located on Chromosome 15. Evaluate its biological effect and specify any disease association. | Pathogenic; Hereditary spastic paraplegia | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... |
Task1_train_21889 | A sequence alteration has been identified in POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Is it disease-inducing or harmless? | Pathogenic; Tip-toe gait | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... |
Task1_train_21890 | This mutation is located in gene POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Mitochondrial DNA depletion syndrome 4b | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... | AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGC... |
Task1_train_21891 | This variant lies on Chromosome 15 and affects the gene POLG (DNA polymerase gamma, catalytic subunit). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Progressive sclerosing poliodystrophy | TGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGG... | TGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGG... |
Task1_train_21892 | With a mutation on Chromosome 15 in gene POLG (DNA polymerase gamma, catalytic subunit), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Progressive sclerosing poliodystrophy | TCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCAT... | TCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCAT... |
Task1_train_21893 | The gene POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Mitochondrial DNA depletion syndrome 1 | TCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCAT... | TCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCAT... |
Task1_train_21894 | A mutation found in POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | TCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCAT... | TCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCAT... |
Task1_train_21895 | A variant has been detected on Chromosome 15 in POLG (DNA polymerase gamma, catalytic subunit). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Progressive sclerosing poliodystrophy | TCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCAT... | TCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCAT... |
Task1_train_21896 | Given a variant located on Chromosome 15 and affecting POLG (DNA polymerase gamma, catalytic subunit), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | TCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCAT... | TCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCAT... |
Task1_train_21897 | This mutation occurs in POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | TCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCAT... | TCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCAT... |
Task1_train_21898 | Gene POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Mitochondrial DNA depletion syndrome 4b | TCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCAT... | TCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCAT... |
Task1_train_21899 | Here’s a variant in POLG (DNA polymerase gamma, catalytic subunit) located on Chromosome 15. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Progressive sclerosing poliodystrophy | TAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAG... | TAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAG... |
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