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_24500 | Chromosome 17 houses a mutation in gene WNK4 (WNK lysine deficient protein kinase 4). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Pseudohypoaldosteronism type 2B | TCTGTGACTCCACCAGACTCAAAAGGACTCCAGTCCTGAAGGCTGGGACCTGGGGATGGGTTTCTCACACCCCATATGTCTGTCCCTTGGATAGGGTGAGGCTGAAGCACCAGGGAGAAAATATGTGCTTCTTCTCGCCCTACCTCCTTTCCCATCCTAGACTGTCCTTGAGCCAGGGTCTGTAAACCTGACACTTTATATGTGTTCACACATGTAAGTACATACACACATGCGCCTGCAGCACATGCTTCTGTCTCCTCCTCCTCCCACCCCTTTAGCTGCTGTTGCCTCCCTTCTCAGGCTGGTGCTGGATCCTTCCT... | TCTGTGACTCCACCAGACTCAAAAGGACTCCAGTCCTGAAGGCTGGGACCTGGGGATGGGTTTCTCACACCCCATATGTCTGTCCCTTGGATAGGGTGAGGCTGAAGCACCAGGGAGAAAATATGTGCTTCTTCTCGCCCTACCTCCTTTCCCATCCTAGACTGTCCTTGAGCCAGGGTCTGTAAACCTGACACTTTATATGTGTTCACACATGTAAGTACATACACACATGCGCCTGCAGCACATGCTTCTGTCTCCTCCTCCTCCCACCCCTTTAGCTGCTGTTGCCTCCCTTCTCAGGCTGGTGCTGGATCCTTCCT... |
Task1_train_24501 | This variant lies on Chromosome 17 and affects the gene WNK4 (WNK lysine deficient protein kinase 4). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Pseudohypoaldosteronism type 2B | GTTCCAGCTGGGCCGGGACGCGGCCGAGGAGGTGGCACAGGAGATGGTGAGCGGAGGACAGACTGTGCTGCCACTGGACGTGTAAAGGACATTGACTCGAGGGGACAGTGCAACAGGGATGGGGCGCAGGAGGGGTGGCAGCGATGGGGGCGGGGCACCTCACCCCTCTCAAAATCTCCTGCAGCGTCTCCCTACCTCTCCAGCCCTAACTTACCCGCACGCACACCCAGTTTTCCTTTACAGAGGGAGCCCTGGGTCCTCCAGCGTCCCTGCTTTACCTCCAGCTGATCTGTTCTTCCTGGGATGCCCTTCTTGCCAAT... | GTTCCAGCTGGGCCGGGACGCGGCCGAGGAGGTGGCACAGGAGATGGTGAGCGGAGGACAGACTGTGCTGCCACTGGACGTGTAAAGGACATTGACTCGAGGGGACAGTGCAACAGGGATGGGGCGCAGGAGGGGTGGCAGCGATGGGGGCGGGGCACCTCACCCCTCTCAAAATCTCCTGCAGCGTCTCCCTACCTCTCCAGCCCTAACTTACCCGCACGCACACCCAGTTTTCCTTTACAGAGGGAGCCCTGGGTCCTCCAGCGTCCCTGCTTTACCTCCAGCTGATCTGTTCTTCCTGGGATGCCCTTCTTGCCAAT... |
Task1_train_24502 | Here’s a variant in WNK4 (WNK lysine deficient protein kinase 4) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Pseudohypoaldosteronism type 2B | CTGGGCCGGGACGCGGCCGAGGAGGTGGCACAGGAGATGGTGAGCGGAGGACAGACTGTGCTGCCACTGGACGTGTAAAGGACATTGACTCGAGGGGACAGTGCAACAGGGATGGGGCGCAGGAGGGGTGGCAGCGATGGGGGCGGGGCACCTCACCCCTCTCAAAATCTCCTGCAGCGTCTCCCTACCTCTCCAGCCCTAACTTACCCGCACGCACACCCAGTTTTCCTTTACAGAGGGAGCCCTGGGTCCTCCAGCGTCCCTGCTTTACCTCCAGCTGATCTGTTCTTCCTGGGATGCCCTTCTTGCCAATTCATCTT... | CTGGGCCGGGACGCGGCCGAGGAGGTGGCACAGGAGATGGTGAGCGGAGGACAGACTGTGCTGCCACTGGACGTGTAAAGGACATTGACTCGAGGGGACAGTGCAACAGGGATGGGGCGCAGGAGGGGTGGCAGCGATGGGGGCGGGGCACCTCACCCCTCTCAAAATCTCCTGCAGCGTCTCCCTACCTCTCCAGCCCTAACTTACCCGCACGCACACCCAGTTTTCCTTTACAGAGGGAGCCCTGGGTCCTCCAGCGTCCCTGCTTTACCTCCAGCTGATCTGTTCTTCCTGGGATGCCCTTCTTGCCAATTCATCTT... |
Task1_train_24503 | Given a variant located on Chromosome 17 and affecting WNK4 (WNK lysine deficient protein kinase 4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Pseudohypoaldosteronism type 2B | GGGCCGGGACGCGGCCGAGGAGGTGGCACAGGAGATGGTGAGCGGAGGACAGACTGTGCTGCCACTGGACGTGTAAAGGACATTGACTCGAGGGGACAGTGCAACAGGGATGGGGCGCAGGAGGGGTGGCAGCGATGGGGGCGGGGCACCTCACCCCTCTCAAAATCTCCTGCAGCGTCTCCCTACCTCTCCAGCCCTAACTTACCCGCACGCACACCCAGTTTTCCTTTACAGAGGGAGCCCTGGGTCCTCCAGCGTCCCTGCTTTACCTCCAGCTGATCTGTTCTTCCTGGGATGCCCTTCTTGCCAATTCATCTTTT... | GGGCCGGGACGCGGCCGAGGAGGTGGCACAGGAGATGGTGAGCGGAGGACAGACTGTGCTGCCACTGGACGTGTAAAGGACATTGACTCGAGGGGACAGTGCAACAGGGATGGGGCGCAGGAGGGGTGGCAGCGATGGGGGCGGGGCACCTCACCCCTCTCAAAATCTCCTGCAGCGTCTCCCTACCTCTCCAGCCCTAACTTACCCGCACGCACACCCAGTTTTCCTTTACAGAGGGAGCCCTGGGTCCTCCAGCGTCCCTGCTTTACCTCCAGCTGATCTGTTCTTCCTGGGATGCCCTTCTTGCCAATTCATCTTTT... |
Task1_train_24504 | Mutation context: Chromosome 17, Gene COA3 (cytochrome c oxidase assembly factor 3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | TCAGGCACTTGTCAGAGGTGGAAACACTACAGACACTACAGAAAAAAGAAATTGAAGATTTGTACAGCCGGCTGGGGAAGCAGCCCCCACCGGGTATTGTGGCCCCAGCTGCTATGCTGTCCAGCCGCCAGCGCCGCCTCTCCAAGGGCAGCTTCCCCACCTCCCGCCGCAACAGCCTACAGCGCTCTGAGCCCCCAGGCCCTGGTGAGACTGCAGTCACCCAGCTTCCATCTTTTCCCTGAGACCCCTTTCTGTCGACTGTTTTTCTCCAGGCCCTGGGGGTCTGCCCCGGGGGAATAGACCCCCTCTCCCCACCTCCC... | TCAGGCACTTGTCAGAGGTGGAAACACTACAGACACTACAGAAAAAAGAAATTGAAGATTTGTACAGCCGGCTGGGGAAGCAGCCCCCACCGGGTATTGTGGCCCCAGCTGCTATGCTGTCCAGCCGCCAGCGCCGCCTCTCCAAGGGCAGCTTCCCCACCTCCCGCCGCAACAGCCTACAGCGCTCTGAGCCCCCAGGCCCTGGTGAGACTGCAGTCACCCAGCTTCCATCTTTTCCCTGAGACCCCTTTCTGTCGACTGTTTTTCTCCAGGCCCTGGGGGTCTGCCCCGGGGGAATAGACCCCCTCTCCCCACCTCCC... |
Task1_train_24505 | This alteration in G6PC1 (glucose-6-phosphatase catalytic subunit 1) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | CTCAAAAAATGCATGAATTTGGAGGCAGTGGCTCATGCCTGTAATCCCAATGCTTTGCTAGGTTGAGGCGGGAGGATCACTTGAAGCCAGGAATTTGAGACCAGCCTGGGCCGCATAGTGAGACCCCGTTTCTACAAAAATAAATAAATAAATAATAAATAATAGTGATATGAAGCATGATTAAATAGCCCTATTTTTTAAAATGCATGAGTTCGTTACCTGATTCATTCCCTGGTTCCTTTCACAGTCCTCCGTGACCCAAGTGTTAGGGTTTTGGTCTCTCTACTATTTGTAGGCTGATATATAGTATACACACACAC... | CTCAAAAAATGCATGAATTTGGAGGCAGTGGCTCATGCCTGTAATCCCAATGCTTTGCTAGGTTGAGGCGGGAGGATCACTTGAAGCCAGGAATTTGAGACCAGCCTGGGCCGCATAGTGAGACCCCGTTTCTACAAAAATAAATAAATAAATAATAAATAATAGTGATATGAAGCATGATTAAATAGCCCTATTTTTTAAAATGCATGAGTTCGTTACCTGATTCATTCCCTGGTTCCTTTCACAGTCCTCCGTGACCCAAGTGTTAGGGTTTTGGTCTCTCTACTATTTGTAGGCTGATATATAGTATACACACACAC... |
Task1_train_24506 | A change on Chromosome 17 affects gene G6PC1 (glucose-6-phosphatase catalytic subunit 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not specified | CTCAAAAAATGCATGAATTTGGAGGCAGTGGCTCATGCCTGTAATCCCAATGCTTTGCTAGGTTGAGGCGGGAGGATCACTTGAAGCCAGGAATTTGAGACCAGCCTGGGCCGCATAGTGAGACCCCGTTTCTACAAAAATAAATAAATAAATAATAAATAATAGTGATATGAAGCATGATTAAATAGCCCTATTTTTTAAAATGCATGAGTTCGTTACCTGATTCATTCCCTGGTTCCTTTCACAGTCCTCCGTGACCCAAGTGTTAGGGTTTTGGTCTCTCTACTATTTGTAGGCTGATATATAGTATACACACACAC... | CTCAAAAAATGCATGAATTTGGAGGCAGTGGCTCATGCCTGTAATCCCAATGCTTTGCTAGGTTGAGGCGGGAGGATCACTTGAAGCCAGGAATTTGAGACCAGCCTGGGCCGCATAGTGAGACCCCGTTTCTACAAAAATAAATAAATAAATAATAAATAATAGTGATATGAAGCATGATTAAATAGCCCTATTTTTTAAAATGCATGAGTTCGTTACCTGATTCATTCCCTGGTTCCTTTCACAGTCCTCCGTGACCCAAGTGTTAGGGTTTTGGTCTCTCTACTATTTGTAGGCTGATATATAGTATACACACACAC... |
Task1_train_24507 | Chromosome 17 houses a mutation in gene G6PC1 (glucose-6-phosphatase catalytic subunit 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | TAGTGAGACCCCGTTTCTACAAAAATAAATAAATAAATAATAAATAATAGTGATATGAAGCATGATTAAATAGCCCTATTTTTTAAAATGCATGAGTTCGTTACCTGATTCATTCCCTGGTTCCTTTCACAGTCCTCCGTGACCCAAGTGTTAGGGTTTTGGTCTCTCTACTATTTGTAGGCTGATATATAGTATACACACACACACACACACACATATACACACACACAGTGTATCTTGAGCTTTCTTTTGTATATCTACACACATATGTATAAGAAAGCTCAAGATATAGAAGCCCTTTTTCAAAAATAACTGAAAGT... | TAGTGAGACCCCGTTTCTACAAAAATAAATAAATAAATAATAAATAATAGTGATATGAAGCATGATTAAATAGCCCTATTTTTTAAAATGCATGAGTTCGTTACCTGATTCATTCCCTGGTTCCTTTCACAGTCCTCCGTGACCCAAGTGTTAGGGTTTTGGTCTCTCTACTATTTGTAGGCTGATATATAGTATACACACACACACACACACACATATACACACACACAGTGTATCTTGAGCTTTCTTTTGTATATCTACACACATATGTATAAGAAAGCTCAAGATATAGAAGCCCTTTTTCAAAAATAACTGAAAGT... |
Task1_train_24508 | This gene mutation involves G6PC1 (glucose-6-phosphatase catalytic subunit 1) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | AGTGAGACCCCGTTTCTACAAAAATAAATAAATAAATAATAAATAATAGTGATATGAAGCATGATTAAATAGCCCTATTTTTTAAAATGCATGAGTTCGTTACCTGATTCATTCCCTGGTTCCTTTCACAGTCCTCCGTGACCCAAGTGTTAGGGTTTTGGTCTCTCTACTATTTGTAGGCTGATATATAGTATACACACACACACACACACACATATACACACACACAGTGTATCTTGAGCTTTCTTTTGTATATCTACACACATATGTATAAGAAAGCTCAAGATATAGAAGCCCTTTTTCAAAAATAACTGAAAGTT... | AGTGAGACCCCGTTTCTACAAAAATAAATAAATAAATAATAAATAATAGTGATATGAAGCATGATTAAATAGCCCTATTTTTTAAAATGCATGAGTTCGTTACCTGATTCATTCCCTGGTTCCTTTCACAGTCCTCCGTGACCCAAGTGTTAGGGTTTTGGTCTCTCTACTATTTGTAGGCTGATATATAGTATACACACACACACACACACACATATACACACACACAGTGTATCTTGAGCTTTCTTTTGTATATCTACACACATATGTATAAGAAAGCTCAAGATATAGAAGCCCTTTTTCAAAAATAACTGAAAGTT... |
Task1_train_24509 | Consider this mutation in G6PC1 (glucose-6-phosphatase catalytic subunit 1) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | TCTACAAATAGGTTATCTCTGGCAGCTTAATAATAATCAGGGTTAACATTTATTAAACAGTGTGTGCCAGTCCATGTGCTATGTGCTTTTCTGTGAGGTAGTTACTGCTATTTACAGAAACAGTAGATGCAGAGACCAAGGTGCTGAGTTAAATGATTAGGCCAACAAGGTTAGTACATGCCGAGCCAGGATGGAAGCCCAGGTAGGCAGGCTGGCTTCCGCGGCAATGCTCTTATGAACTATGTTACGTCCAGTGCTGATAAACTGACTCTCTGGGGAGCAGGGGAAAGCCCTGAGTTTAGCATTTGCCAATTTCTATC... | TCTACAAATAGGTTATCTCTGGCAGCTTAATAATAATCAGGGTTAACATTTATTAAACAGTGTGTGCCAGTCCATGTGCTATGTGCTTTTCTGTGAGGTAGTTACTGCTATTTACAGAAACAGTAGATGCAGAGACCAAGGTGCTGAGTTAAATGATTAGGCCAACAAGGTTAGTACATGCCGAGCCAGGATGGAAGCCCAGGTAGGCAGGCTGGCTTCCGCGGCAATGCTCTTATGAACTATGTTACGTCCAGTGCTGATAAACTGACTCTCTGGGGAGCAGGGGAAAGCCCTGAGTTTAGCATTTGCCAATTTCTATC... |
Task1_train_24510 | The following genetic variant occurs in G6PC1 (glucose-6-phosphatase catalytic subunit 1) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Glycogen storage disease | AGGTTATCTCTGGCAGCTTAATAATAATCAGGGTTAACATTTATTAAACAGTGTGTGCCAGTCCATGTGCTATGTGCTTTTCTGTGAGGTAGTTACTGCTATTTACAGAAACAGTAGATGCAGAGACCAAGGTGCTGAGTTAAATGATTAGGCCAACAAGGTTAGTACATGCCGAGCCAGGATGGAAGCCCAGGTAGGCAGGCTGGCTTCCGCGGCAATGCTCTTATGAACTATGTTACGTCCAGTGCTGATAAACTGACTCTCTGGGGAGCAGGGGAAAGCCCTGAGTTTAGCATTTGCCAATTTCTATCACGTAAACA... | AGGTTATCTCTGGCAGCTTAATAATAATCAGGGTTAACATTTATTAAACAGTGTGTGCCAGTCCATGTGCTATGTGCTTTTCTGTGAGGTAGTTACTGCTATTTACAGAAACAGTAGATGCAGAGACCAAGGTGCTGAGTTAAATGATTAGGCCAACAAGGTTAGTACATGCCGAGCCAGGATGGAAGCCCAGGTAGGCAGGCTGGCTTCCGCGGCAATGCTCTTATGAACTATGTTACGTCCAGTGCTGATAAACTGACTCTCTGGGGAGCAGGGGAAAGCCCTGAGTTTAGCATTTGCCAATTTCTATCACGTAAACA... |
Task1_train_24511 | Here is a mutation in G6PC1 (glucose-6-phosphatase catalytic subunit 1) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Short stature | AGGTTATCTCTGGCAGCTTAATAATAATCAGGGTTAACATTTATTAAACAGTGTGTGCCAGTCCATGTGCTATGTGCTTTTCTGTGAGGTAGTTACTGCTATTTACAGAAACAGTAGATGCAGAGACCAAGGTGCTGAGTTAAATGATTAGGCCAACAAGGTTAGTACATGCCGAGCCAGGATGGAAGCCCAGGTAGGCAGGCTGGCTTCCGCGGCAATGCTCTTATGAACTATGTTACGTCCAGTGCTGATAAACTGACTCTCTGGGGAGCAGGGGAAAGCCCTGAGTTTAGCATTTGCCAATTTCTATCACGTAAACA... | AGGTTATCTCTGGCAGCTTAATAATAATCAGGGTTAACATTTATTAAACAGTGTGTGCCAGTCCATGTGCTATGTGCTTTTCTGTGAGGTAGTTACTGCTATTTACAGAAACAGTAGATGCAGAGACCAAGGTGCTGAGTTAAATGATTAGGCCAACAAGGTTAGTACATGCCGAGCCAGGATGGAAGCCCAGGTAGGCAGGCTGGCTTCCGCGGCAATGCTCTTATGAACTATGTTACGTCCAGTGCTGATAAACTGACTCTCTGGGGAGCAGGGGAAAGCCCTGAGTTTAGCATTTGCCAATTTCTATCACGTAAACA... |
Task1_train_24512 | This alteration occurs within gene G6PC1 (glucose-6-phosphatase catalytic subunit 1) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Hypoglycemia | AGGTTATCTCTGGCAGCTTAATAATAATCAGGGTTAACATTTATTAAACAGTGTGTGCCAGTCCATGTGCTATGTGCTTTTCTGTGAGGTAGTTACTGCTATTTACAGAAACAGTAGATGCAGAGACCAAGGTGCTGAGTTAAATGATTAGGCCAACAAGGTTAGTACATGCCGAGCCAGGATGGAAGCCCAGGTAGGCAGGCTGGCTTCCGCGGCAATGCTCTTATGAACTATGTTACGTCCAGTGCTGATAAACTGACTCTCTGGGGAGCAGGGGAAAGCCCTGAGTTTAGCATTTGCCAATTTCTATCACGTAAACA... | AGGTTATCTCTGGCAGCTTAATAATAATCAGGGTTAACATTTATTAAACAGTGTGTGCCAGTCCATGTGCTATGTGCTTTTCTGTGAGGTAGTTACTGCTATTTACAGAAACAGTAGATGCAGAGACCAAGGTGCTGAGTTAAATGATTAGGCCAACAAGGTTAGTACATGCCGAGCCAGGATGGAAGCCCAGGTAGGCAGGCTGGCTTCCGCGGCAATGCTCTTATGAACTATGTTACGTCCAGTGCTGATAAACTGACTCTCTGGGGAGCAGGGGAAAGCCCTGAGTTTAGCATTTGCCAATTTCTATCACGTAAACA... |
Task1_train_24513 | Given this variant in gene G6PC1 (glucose-6-phosphatase catalytic subunit 1) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | AGGTTATCTCTGGCAGCTTAATAATAATCAGGGTTAACATTTATTAAACAGTGTGTGCCAGTCCATGTGCTATGTGCTTTTCTGTGAGGTAGTTACTGCTATTTACAGAAACAGTAGATGCAGAGACCAAGGTGCTGAGTTAAATGATTAGGCCAACAAGGTTAGTACATGCCGAGCCAGGATGGAAGCCCAGGTAGGCAGGCTGGCTTCCGCGGCAATGCTCTTATGAACTATGTTACGTCCAGTGCTGATAAACTGACTCTCTGGGGAGCAGGGGAAAGCCCTGAGTTTAGCATTTGCCAATTTCTATCACGTAAACA... | AGGTTATCTCTGGCAGCTTAATAATAATCAGGGTTAACATTTATTAAACAGTGTGTGCCAGTCCATGTGCTATGTGCTTTTCTGTGAGGTAGTTACTGCTATTTACAGAAACAGTAGATGCAGAGACCAAGGTGCTGAGTTAAATGATTAGGCCAACAAGGTTAGTACATGCCGAGCCAGGATGGAAGCCCAGGTAGGCAGGCTGGCTTCCGCGGCAATGCTCTTATGAACTATGTTACGTCCAGTGCTGATAAACTGACTCTCTGGGGAGCAGGGGAAAGCCCTGAGTTTAGCATTTGCCAATTTCTATCACGTAAACA... |
Task1_train_24514 | This alteration in G6PC1 (glucose-6-phosphatase catalytic subunit 1) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Glycogen storage disease, type I | AGGTTATCTCTGGCAGCTTAATAATAATCAGGGTTAACATTTATTAAACAGTGTGTGCCAGTCCATGTGCTATGTGCTTTTCTGTGAGGTAGTTACTGCTATTTACAGAAACAGTAGATGCAGAGACCAAGGTGCTGAGTTAAATGATTAGGCCAACAAGGTTAGTACATGCCGAGCCAGGATGGAAGCCCAGGTAGGCAGGCTGGCTTCCGCGGCAATGCTCTTATGAACTATGTTACGTCCAGTGCTGATAAACTGACTCTCTGGGGAGCAGGGGAAAGCCCTGAGTTTAGCATTTGCCAATTTCTATCACGTAAACA... | AGGTTATCTCTGGCAGCTTAATAATAATCAGGGTTAACATTTATTAAACAGTGTGTGCCAGTCCATGTGCTATGTGCTTTTCTGTGAGGTAGTTACTGCTATTTACAGAAACAGTAGATGCAGAGACCAAGGTGCTGAGTTAAATGATTAGGCCAACAAGGTTAGTACATGCCGAGCCAGGATGGAAGCCCAGGTAGGCAGGCTGGCTTCCGCGGCAATGCTCTTATGAACTATGTTACGTCCAGTGCTGATAAACTGACTCTCTGGGGAGCAGGGGAAAGCCCTGAGTTTAGCATTTGCCAATTTCTATCACGTAAACA... |
Task1_train_24515 | A change on Chromosome 17 affects gene G6PC1 (glucose-6-phosphatase catalytic subunit 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not specified | AGGTTATCTCTGGCAGCTTAATAATAATCAGGGTTAACATTTATTAAACAGTGTGTGCCAGTCCATGTGCTATGTGCTTTTCTGTGAGGTAGTTACTGCTATTTACAGAAACAGTAGATGCAGAGACCAAGGTGCTGAGTTAAATGATTAGGCCAACAAGGTTAGTACATGCCGAGCCAGGATGGAAGCCCAGGTAGGCAGGCTGGCTTCCGCGGCAATGCTCTTATGAACTATGTTACGTCCAGTGCTGATAAACTGACTCTCTGGGGAGCAGGGGAAAGCCCTGAGTTTAGCATTTGCCAATTTCTATCACGTAAACA... | AGGTTATCTCTGGCAGCTTAATAATAATCAGGGTTAACATTTATTAAACAGTGTGTGCCAGTCCATGTGCTATGTGCTTTTCTGTGAGGTAGTTACTGCTATTTACAGAAACAGTAGATGCAGAGACCAAGGTGCTGAGTTAAATGATTAGGCCAACAAGGTTAGTACATGCCGAGCCAGGATGGAAGCCCAGGTAGGCAGGCTGGCTTCCGCGGCAATGCTCTTATGAACTATGTTACGTCCAGTGCTGATAAACTGACTCTCTGGGGAGCAGGGGAAAGCCCTGAGTTTAGCATTTGCCAATTTCTATCACGTAAACA... |
Task1_train_24516 | This variant impacts the gene G6PC1 (glucose-6-phosphatase catalytic subunit 1) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | GGTTATCTCTGGCAGCTTAATAATAATCAGGGTTAACATTTATTAAACAGTGTGTGCCAGTCCATGTGCTATGTGCTTTTCTGTGAGGTAGTTACTGCTATTTACAGAAACAGTAGATGCAGAGACCAAGGTGCTGAGTTAAATGATTAGGCCAACAAGGTTAGTACATGCCGAGCCAGGATGGAAGCCCAGGTAGGCAGGCTGGCTTCCGCGGCAATGCTCTTATGAACTATGTTACGTCCAGTGCTGATAAACTGACTCTCTGGGGAGCAGGGGAAAGCCCTGAGTTTAGCATTTGCCAATTTCTATCACGTAAACAT... | GGTTATCTCTGGCAGCTTAATAATAATCAGGGTTAACATTTATTAAACAGTGTGTGCCAGTCCATGTGCTATGTGCTTTTCTGTGAGGTAGTTACTGCTATTTACAGAAACAGTAGATGCAGAGACCAAGGTGCTGAGTTAAATGATTAGGCCAACAAGGTTAGTACATGCCGAGCCAGGATGGAAGCCCAGGTAGGCAGGCTGGCTTCCGCGGCAATGCTCTTATGAACTATGTTACGTCCAGTGCTGATAAACTGACTCTCTGGGGAGCAGGGGAAAGCCCTGAGTTTAGCATTTGCCAATTTCTATCACGTAAACAT... |
Task1_train_24517 | Here’s a variant in G6PC1 (glucose-6-phosphatase catalytic subunit 1) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | CTTTTCTGTGAGGTAGTTACTGCTATTTACAGAAACAGTAGATGCAGAGACCAAGGTGCTGAGTTAAATGATTAGGCCAACAAGGTTAGTACATGCCGAGCCAGGATGGAAGCCCAGGTAGGCAGGCTGGCTTCCGCGGCAATGCTCTTATGAACTATGTTACGTCCAGTGCTGATAAACTGACTCTCTGGGGAGCAGGGGAAAGCCCTGAGTTTAGCATTTGCCAATTTCTATCACGTAAACATTCCCATTCTGGCCACTTTCTTTCTTTCTTTCTTTTGTTTGTTTGTTTGAGATGGAGTCTCGCACTGTTGCCTGGC... | CTTTTCTGTGAGGTAGTTACTGCTATTTACAGAAACAGTAGATGCAGAGACCAAGGTGCTGAGTTAAATGATTAGGCCAACAAGGTTAGTACATGCCGAGCCAGGATGGAAGCCCAGGTAGGCAGGCTGGCTTCCGCGGCAATGCTCTTATGAACTATGTTACGTCCAGTGCTGATAAACTGACTCTCTGGGGAGCAGGGGAAAGCCCTGAGTTTAGCATTTGCCAATTTCTATCACGTAAACATTCCCATTCTGGCCACTTTCTTTCTTTCTTTCTTTTGTTTGTTTGTTTGAGATGGAGTCTCGCACTGTTGCCTGGC... |
Task1_train_24518 | This variant impacts the gene G6PC1 (glucose-6-phosphatase catalytic subunit 1) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | AGAAAATGATTGTTTATAGGCAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAAAGGAAAGGAGAAGGAAAGAAGGACCAAACATCTTTTGTAGAAATATGTTTGCTTTCATCATAACAGCTTGTTATCAAGGATGAATTTCTCCCTGAAATTAATGGAGGCACAGACTGGAAAGTTTAAAGTGGCTTTAAGAGGTTATTTTATTTAGTCCTCTGTCTTAATAGAAGCAAATTATTATCTCTGCTCCTTAGGTAGAGTAGCTAAGGCTCAGAAAGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAG... | AGAAAATGATTGTTTATAGGCAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAAAGGAAAGGAGAAGGAAAGAAGGACCAAACATCTTTTGTAGAAATATGTTTGCTTTCATCATAACAGCTTGTTATCAAGGATGAATTTCTCCCTGAAATTAATGGAGGCACAGACTGGAAAGTTTAAAGTGGCTTTAAGAGGTTATTTTATTTAGTCCTCTGTCTTAATAGAAGCAAATTATTATCTCTGCTCCTTAGGTAGAGTAGCTAAGGCTCAGAAAGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAG... |
Task1_train_24519 | Gene G6PC1 (glucose-6-phosphatase catalytic subunit 1) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | AAATGATTGTTTATAGGCAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAAAGGAAAGGAGAAGGAAAGAAGGACCAAACATCTTTTGTAGAAATATGTTTGCTTTCATCATAACAGCTTGTTATCAAGGATGAATTTCTCCCTGAAATTAATGGAGGCACAGACTGGAAAGTTTAAAGTGGCTTTAAGAGGTTATTTTATTTAGTCCTCTGTCTTAATAGAAGCAAATTATTATCTCTGCTCCTTAGGTAGAGTAGCTAAGGCTCAGAAAGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCC... | AAATGATTGTTTATAGGCAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAAAGGAAAGGAGAAGGAAAGAAGGACCAAACATCTTTTGTAGAAATATGTTTGCTTTCATCATAACAGCTTGTTATCAAGGATGAATTTCTCCCTGAAATTAATGGAGGCACAGACTGGAAAGTTTAAAGTGGCTTTAAGAGGTTATTTTATTTAGTCCTCTGTCTTAATAGAAGCAAATTATTATCTCTGCTCCTTAGGTAGAGTAGCTAAGGCTCAGAAAGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCC... |
Task1_train_24520 | A variant was discovered in gene G6PC1 (glucose-6-phosphatase catalytic subunit 1), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | AATGATTGTTTATAGGCAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAAAGGAAAGGAGAAGGAAAGAAGGACCAAACATCTTTTGTAGAAATATGTTTGCTTTCATCATAACAGCTTGTTATCAAGGATGAATTTCTCCCTGAAATTAATGGAGGCACAGACTGGAAAGTTTAAAGTGGCTTTAAGAGGTTATTTTATTTAGTCCTCTGTCTTAATAGAAGCAAATTATTATCTCTGCTCCTTAGGTAGAGTAGCTAAGGCTCAGAAAGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCA... | AATGATTGTTTATAGGCAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAAAGGAAAGGAGAAGGAAAGAAGGACCAAACATCTTTTGTAGAAATATGTTTGCTTTCATCATAACAGCTTGTTATCAAGGATGAATTTCTCCCTGAAATTAATGGAGGCACAGACTGGAAAGTTTAAAGTGGCTTTAAGAGGTTATTTTATTTAGTCCTCTGTCTTAATAGAAGCAAATTATTATCTCTGCTCCTTAGGTAGAGTAGCTAAGGCTCAGAAAGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCA... |
Task1_train_24521 | Given this variant in gene G6PC1 (glucose-6-phosphatase catalytic subunit 1) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | TTATAGGCAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAAAGGAAAGGAGAAGGAAAGAAGGACCAAACATCTTTTGTAGAAATATGTTTGCTTTCATCATAACAGCTTGTTATCAAGGATGAATTTCTCCCTGAAATTAATGGAGGCACAGACTGGAAAGTTTAAAGTGGCTTTAAGAGGTTATTTTATTTAGTCCTCTGTCTTAATAGAAGCAAATTATTATCTCTGCTCCTTAGGTAGAGTAGCTAAGGCTCAGAAAGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAACGCAGGTG... | TTATAGGCAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAAAGGAAAGGAGAAGGAAAGAAGGACCAAACATCTTTTGTAGAAATATGTTTGCTTTCATCATAACAGCTTGTTATCAAGGATGAATTTCTCCCTGAAATTAATGGAGGCACAGACTGGAAAGTTTAAAGTGGCTTTAAGAGGTTATTTTATTTAGTCCTCTGTCTTAATAGAAGCAAATTATTATCTCTGCTCCTTAGGTAGAGTAGCTAAGGCTCAGAAAGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAACGCAGGTG... |
Task1_train_24522 | Given this context: Chromosome 17, gene G6PC1 (glucose-6-phosphatase catalytic subunit 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | TCCCAGAGCCTTGCACAATGCTTGGTGCATAGGAGATGGAAATTTGTTAAATAAATGAATTATGGATAACGAATGGATGGTAAGATGGGTGGATGGATGGGGGGTGAACGGATGGATGGGGGGTGAATGGATGGATGAATGGGTAGATGGGTGGATAGGGGGATGGCTGGGTGGCTGGGTAGATGATGCACTGTCTCCCAGATGAGGACCTTTTCACCTTTACTCCATTCTCTTTCCTGCCCTTTAGGGAGCCCCTCTGGCCATGCCATGGGCACAGCAGGTGTATACTACGTGATGGTCACATCTACTCTTTCCATCTT... | TCCCAGAGCCTTGCACAATGCTTGGTGCATAGGAGATGGAAATTTGTTAAATAAATGAATTATGGATAACGAATGGATGGTAAGATGGGTGGATGGATGGGGGGTGAACGGATGGATGGGGGGTGAATGGATGGATGAATGGGTAGATGGGTGGATAGGGGGATGGCTGGGTGGCTGGGTAGATGATGCACTGTCTCCCAGATGAGGACCTTTTCACCTTTACTCCATTCTCTTTCCTGCCCTTTAGGGAGCCCCTCTGGCCATGCCATGGGCACAGCAGGTGTATACTACGTGATGGTCACATCTACTCTTTCCATCTT... |
Task1_train_24523 | The following genetic variant occurs in G6PC1 (glucose-6-phosphatase catalytic subunit 1) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | GCACAATGCTTGGTGCATAGGAGATGGAAATTTGTTAAATAAATGAATTATGGATAACGAATGGATGGTAAGATGGGTGGATGGATGGGGGGTGAACGGATGGATGGGGGGTGAATGGATGGATGAATGGGTAGATGGGTGGATAGGGGGATGGCTGGGTGGCTGGGTAGATGATGCACTGTCTCCCAGATGAGGACCTTTTCACCTTTACTCCATTCTCTTTCCTGCCCTTTAGGGAGCCCCTCTGGCCATGCCATGGGCACAGCAGGTGTATACTACGTGATGGTCACATCTACTCTTTCCATCTTTCAGGGAAAGAT... | GCACAATGCTTGGTGCATAGGAGATGGAAATTTGTTAAATAAATGAATTATGGATAACGAATGGATGGTAAGATGGGTGGATGGATGGGGGGTGAACGGATGGATGGGGGGTGAATGGATGGATGAATGGGTAGATGGGTGGATAGGGGGATGGCTGGGTGGCTGGGTAGATGATGCACTGTCTCCCAGATGAGGACCTTTTCACCTTTACTCCATTCTCTTTCCTGCCCTTTAGGGAGCCCCTCTGGCCATGCCATGGGCACAGCAGGTGTATACTACGTGATGGTCACATCTACTCTTTCCATCTTTCAGGGAAAGAT... |
Task1_train_24524 | The gene G6PC1 (glucose-6-phosphatase catalytic subunit 1), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | TAGGAGATGGAAATTTGTTAAATAAATGAATTATGGATAACGAATGGATGGTAAGATGGGTGGATGGATGGGGGGTGAACGGATGGATGGGGGGTGAATGGATGGATGAATGGGTAGATGGGTGGATAGGGGGATGGCTGGGTGGCTGGGTAGATGATGCACTGTCTCCCAGATGAGGACCTTTTCACCTTTACTCCATTCTCTTTCCTGCCCTTTAGGGAGCCCCTCTGGCCATGCCATGGGCACAGCAGGTGTATACTACGTGATGGTCACATCTACTCTTTCCATCTTTCAGGGAAAGATAAAGCCGACCTACAGAT... | TAGGAGATGGAAATTTGTTAAATAAATGAATTATGGATAACGAATGGATGGTAAGATGGGTGGATGGATGGGGGGTGAACGGATGGATGGGGGGTGAATGGATGGATGAATGGGTAGATGGGTGGATAGGGGGATGGCTGGGTGGCTGGGTAGATGATGCACTGTCTCCCAGATGAGGACCTTTTCACCTTTACTCCATTCTCTTTCCTGCCCTTTAGGGAGCCCCTCTGGCCATGCCATGGGCACAGCAGGTGTATACTACGTGATGGTCACATCTACTCTTTCCATCTTTCAGGGAAAGATAAAGCCGACCTACAGAT... |
Task1_train_24525 | Gene G6PC1 (glucose-6-phosphatase catalytic subunit 1) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | AATTTGTTAAATAAATGAATTATGGATAACGAATGGATGGTAAGATGGGTGGATGGATGGGGGGTGAACGGATGGATGGGGGGTGAATGGATGGATGAATGGGTAGATGGGTGGATAGGGGGATGGCTGGGTGGCTGGGTAGATGATGCACTGTCTCCCAGATGAGGACCTTTTCACCTTTACTCCATTCTCTTTCCTGCCCTTTAGGGAGCCCCTCTGGCCATGCCATGGGCACAGCAGGTGTATACTACGTGATGGTCACATCTACTCTTTCCATCTTTCAGGGAAAGATAAAGCCGACCTACAGATTTCGGTAAGAA... | AATTTGTTAAATAAATGAATTATGGATAACGAATGGATGGTAAGATGGGTGGATGGATGGGGGGTGAACGGATGGATGGGGGGTGAATGGATGGATGAATGGGTAGATGGGTGGATAGGGGGATGGCTGGGTGGCTGGGTAGATGATGCACTGTCTCCCAGATGAGGACCTTTTCACCTTTACTCCATTCTCTTTCCTGCCCTTTAGGGAGCCCCTCTGGCCATGCCATGGGCACAGCAGGTGTATACTACGTGATGGTCACATCTACTCTTTCCATCTTTCAGGGAAAGATAAAGCCGACCTACAGATTTCGGTAAGAA... |
Task1_train_24526 | Given this variant in gene G6PC1 (glucose-6-phosphatase catalytic subunit 1) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | ATTTGTTAAATAAATGAATTATGGATAACGAATGGATGGTAAGATGGGTGGATGGATGGGGGGTGAACGGATGGATGGGGGGTGAATGGATGGATGAATGGGTAGATGGGTGGATAGGGGGATGGCTGGGTGGCTGGGTAGATGATGCACTGTCTCCCAGATGAGGACCTTTTCACCTTTACTCCATTCTCTTTCCTGCCCTTTAGGGAGCCCCTCTGGCCATGCCATGGGCACAGCAGGTGTATACTACGTGATGGTCACATCTACTCTTTCCATCTTTCAGGGAAAGATAAAGCCGACCTACAGATTTCGGTAAGAAC... | ATTTGTTAAATAAATGAATTATGGATAACGAATGGATGGTAAGATGGGTGGATGGATGGGGGGTGAACGGATGGATGGGGGGTGAATGGATGGATGAATGGGTAGATGGGTGGATAGGGGGATGGCTGGGTGGCTGGGTAGATGATGCACTGTCTCCCAGATGAGGACCTTTTCACCTTTACTCCATTCTCTTTCCTGCCCTTTAGGGAGCCCCTCTGGCCATGCCATGGGCACAGCAGGTGTATACTACGTGATGGTCACATCTACTCTTTCCATCTTTCAGGGAAAGATAAAGCCGACCTACAGATTTCGGTAAGAAC... |
Task1_train_24527 | With a mutation on Chromosome 17 in gene G6PC1 (glucose-6-phosphatase catalytic subunit 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | ATAAATGAATTATGGATAACGAATGGATGGTAAGATGGGTGGATGGATGGGGGGTGAACGGATGGATGGGGGGTGAATGGATGGATGAATGGGTAGATGGGTGGATAGGGGGATGGCTGGGTGGCTGGGTAGATGATGCACTGTCTCCCAGATGAGGACCTTTTCACCTTTACTCCATTCTCTTTCCTGCCCTTTAGGGAGCCCCTCTGGCCATGCCATGGGCACAGCAGGTGTATACTACGTGATGGTCACATCTACTCTTTCCATCTTTCAGGGAAAGATAAAGCCGACCTACAGATTTCGGTAAGAACTCACCACTG... | ATAAATGAATTATGGATAACGAATGGATGGTAAGATGGGTGGATGGATGGGGGGTGAACGGATGGATGGGGGGTGAATGGATGGATGAATGGGTAGATGGGTGGATAGGGGGATGGCTGGGTGGCTGGGTAGATGATGCACTGTCTCCCAGATGAGGACCTTTTCACCTTTACTCCATTCTCTTTCCTGCCCTTTAGGGAGCCCCTCTGGCCATGCCATGGGCACAGCAGGTGTATACTACGTGATGGTCACATCTACTCTTTCCATCTTTCAGGGAAAGATAAAGCCGACCTACAGATTTCGGTAAGAACTCACCACTG... |
Task1_train_24528 | Here is a genetic alteration in G6PC1 (glucose-6-phosphatase catalytic subunit 1) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | ATAACGAATGGATGGTAAGATGGGTGGATGGATGGGGGGTGAACGGATGGATGGGGGGTGAATGGATGGATGAATGGGTAGATGGGTGGATAGGGGGATGGCTGGGTGGCTGGGTAGATGATGCACTGTCTCCCAGATGAGGACCTTTTCACCTTTACTCCATTCTCTTTCCTGCCCTTTAGGGAGCCCCTCTGGCCATGCCATGGGCACAGCAGGTGTATACTACGTGATGGTCACATCTACTCTTTCCATCTTTCAGGGAAAGATAAAGCCGACCTACAGATTTCGGTAAGAACTCACCACTGGGGTGTAGGTGGTGG... | ATAACGAATGGATGGTAAGATGGGTGGATGGATGGGGGGTGAACGGATGGATGGGGGGTGAATGGATGGATGAATGGGTAGATGGGTGGATAGGGGGATGGCTGGGTGGCTGGGTAGATGATGCACTGTCTCCCAGATGAGGACCTTTTCACCTTTACTCCATTCTCTTTCCTGCCCTTTAGGGAGCCCCTCTGGCCATGCCATGGGCACAGCAGGTGTATACTACGTGATGGTCACATCTACTCTTTCCATCTTTCAGGGAAAGATAAAGCCGACCTACAGATTTCGGTAAGAACTCACCACTGGGGTGTAGGTGGTGG... |
Task1_train_24529 | A variant was discovered on Chromosome 17, affecting G6PC1 (glucose-6-phosphatase catalytic subunit 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | AGATGGGTGGATGGATGGGGGGTGAACGGATGGATGGGGGGTGAATGGATGGATGAATGGGTAGATGGGTGGATAGGGGGATGGCTGGGTGGCTGGGTAGATGATGCACTGTCTCCCAGATGAGGACCTTTTCACCTTTACTCCATTCTCTTTCCTGCCCTTTAGGGAGCCCCTCTGGCCATGCCATGGGCACAGCAGGTGTATACTACGTGATGGTCACATCTACTCTTTCCATCTTTCAGGGAAAGATAAAGCCGACCTACAGATTTCGGTAAGAACTCACCACTGGGGTGTAGGTGGTGGAGGGCAGGAGGCAGCTC... | AGATGGGTGGATGGATGGGGGGTGAACGGATGGATGGGGGGTGAATGGATGGATGAATGGGTAGATGGGTGGATAGGGGGATGGCTGGGTGGCTGGGTAGATGATGCACTGTCTCCCAGATGAGGACCTTTTCACCTTTACTCCATTCTCTTTCCTGCCCTTTAGGGAGCCCCTCTGGCCATGCCATGGGCACAGCAGGTGTATACTACGTGATGGTCACATCTACTCTTTCCATCTTTCAGGGAAAGATAAAGCCGACCTACAGATTTCGGTAAGAACTCACCACTGGGGTGTAGGTGGTGGAGGGCAGGAGGCAGCTC... |
Task1_train_24530 | Given this variant in gene G6PC1 (glucose-6-phosphatase catalytic subunit 1) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | GATGGGTGGATGGATGGGGGGTGAACGGATGGATGGGGGGTGAATGGATGGATGAATGGGTAGATGGGTGGATAGGGGGATGGCTGGGTGGCTGGGTAGATGATGCACTGTCTCCCAGATGAGGACCTTTTCACCTTTACTCCATTCTCTTTCCTGCCCTTTAGGGAGCCCCTCTGGCCATGCCATGGGCACAGCAGGTGTATACTACGTGATGGTCACATCTACTCTTTCCATCTTTCAGGGAAAGATAAAGCCGACCTACAGATTTCGGTAAGAACTCACCACTGGGGTGTAGGTGGTGGAGGGCAGGAGGCAGCTCT... | GATGGGTGGATGGATGGGGGGTGAACGGATGGATGGGGGGTGAATGGATGGATGAATGGGTAGATGGGTGGATAGGGGGATGGCTGGGTGGCTGGGTAGATGATGCACTGTCTCCCAGATGAGGACCTTTTCACCTTTACTCCATTCTCTTTCCTGCCCTTTAGGGAGCCCCTCTGGCCATGCCATGGGCACAGCAGGTGTATACTACGTGATGGTCACATCTACTCTTTCCATCTTTCAGGGAAAGATAAAGCCGACCTACAGATTTCGGTAAGAACTCACCACTGGGGTGTAGGTGGTGGAGGGCAGGAGGCAGCTCT... |
Task1_train_24531 | The variant affects gene G6PC1 (glucose-6-phosphatase catalytic subunit 1), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | GATGGGTGGATGGATGGGGGGTGAACGGATGGATGGGGGGTGAATGGATGGATGAATGGGTAGATGGGTGGATAGGGGGATGGCTGGGTGGCTGGGTAGATGATGCACTGTCTCCCAGATGAGGACCTTTTCACCTTTACTCCATTCTCTTTCCTGCCCTTTAGGGAGCCCCTCTGGCCATGCCATGGGCACAGCAGGTGTATACTACGTGATGGTCACATCTACTCTTTCCATCTTTCAGGGAAAGATAAAGCCGACCTACAGATTTCGGTAAGAACTCACCACTGGGGTGTAGGTGGTGGAGGGCAGGAGGCAGCTCT... | GATGGGTGGATGGATGGGGGGTGAACGGATGGATGGGGGGTGAATGGATGGATGAATGGGTAGATGGGTGGATAGGGGGATGGCTGGGTGGCTGGGTAGATGATGCACTGTCTCCCAGATGAGGACCTTTTCACCTTTACTCCATTCTCTTTCCTGCCCTTTAGGGAGCCCCTCTGGCCATGCCATGGGCACAGCAGGTGTATACTACGTGATGGTCACATCTACTCTTTCCATCTTTCAGGGAAAGATAAAGCCGACCTACAGATTTCGGTAAGAACTCACCACTGGGGTGTAGGTGGTGGAGGGCAGGAGGCAGCTCT... |
Task1_train_24532 | Located on Chromosome 17, this mutation impacts G6PC1 (glucose-6-phosphatase catalytic subunit 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Glycogen storage disease, type I | GGATGGGGGGTGAACGGATGGATGGGGGGTGAATGGATGGATGAATGGGTAGATGGGTGGATAGGGGGATGGCTGGGTGGCTGGGTAGATGATGCACTGTCTCCCAGATGAGGACCTTTTCACCTTTACTCCATTCTCTTTCCTGCCCTTTAGGGAGCCCCTCTGGCCATGCCATGGGCACAGCAGGTGTATACTACGTGATGGTCACATCTACTCTTTCCATCTTTCAGGGAAAGATAAAGCCGACCTACAGATTTCGGTAAGAACTCACCACTGGGGTGTAGGTGGTGGAGGGCAGGAGGCAGCTCTCTCTGTAGCTG... | GGATGGGGGGTGAACGGATGGATGGGGGGTGAATGGATGGATGAATGGGTAGATGGGTGGATAGGGGGATGGCTGGGTGGCTGGGTAGATGATGCACTGTCTCCCAGATGAGGACCTTTTCACCTTTACTCCATTCTCTTTCCTGCCCTTTAGGGAGCCCCTCTGGCCATGCCATGGGCACAGCAGGTGTATACTACGTGATGGTCACATCTACTCTTTCCATCTTTCAGGGAAAGATAAAGCCGACCTACAGATTTCGGTAAGAACTCACCACTGGGGTGTAGGTGGTGGAGGGCAGGAGGCAGCTCTCTCTGTAGCTG... |
Task1_train_24533 | Located on Chromosome 17, this mutation impacts G6PC1 (glucose-6-phosphatase catalytic subunit 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | GGATGGGGGGTGAACGGATGGATGGGGGGTGAATGGATGGATGAATGGGTAGATGGGTGGATAGGGGGATGGCTGGGTGGCTGGGTAGATGATGCACTGTCTCCCAGATGAGGACCTTTTCACCTTTACTCCATTCTCTTTCCTGCCCTTTAGGGAGCCCCTCTGGCCATGCCATGGGCACAGCAGGTGTATACTACGTGATGGTCACATCTACTCTTTCCATCTTTCAGGGAAAGATAAAGCCGACCTACAGATTTCGGTAAGAACTCACCACTGGGGTGTAGGTGGTGGAGGGCAGGAGGCAGCTCTCTCTGTAGCTG... | GGATGGGGGGTGAACGGATGGATGGGGGGTGAATGGATGGATGAATGGGTAGATGGGTGGATAGGGGGATGGCTGGGTGGCTGGGTAGATGATGCACTGTCTCCCAGATGAGGACCTTTTCACCTTTACTCCATTCTCTTTCCTGCCCTTTAGGGAGCCCCTCTGGCCATGCCATGGGCACAGCAGGTGTATACTACGTGATGGTCACATCTACTCTTTCCATCTTTCAGGGAAAGATAAAGCCGACCTACAGATTTCGGTAAGAACTCACCACTGGGGTGTAGGTGGTGGAGGGCAGGAGGCAGCTCTCTCTGTAGCTG... |
Task1_train_24534 | The gene G6PC1 (glucose-6-phosphatase catalytic subunit 1), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | ACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATAAGCCACCGTGCCTGGTCAATTTTGATCTTTTTTAAAGAGACAGGGGTCTTGCTATGTTGCCCAGACTAGTCTTGAACTCCTGGCCTCAAGTGATCCTCTCACCTCGGCCTCCCAAAGTATTGGGATTACAGGTCTGAGCCGCTGCACCCAGCCCCCAACAGGCATCTTTGGACTTTTGAGTACTGGCTTTAATTTACAAAAATTCCACTGAGAGCACCTAAGTTTGCCAGGCTCCAACATTTCTGCAGGGGCTGTTTTC... | ACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATAAGCCACCGTGCCTGGTCAATTTTGATCTTTTTTAAAGAGACAGGGGTCTTGCTATGTTGCCCAGACTAGTCTTGAACTCCTGGCCTCAAGTGATCCTCTCACCTCGGCCTCCCAAAGTATTGGGATTACAGGTCTGAGCCGCTGCACCCAGCCCCCAACAGGCATCTTTGGACTTTTGAGTACTGGCTTTAATTTACAAAAATTCCACTGAGAGCACCTAAGTTTGCCAGGCTCCAACATTTCTGCAGGGGCTGTTTTC... |
Task1_train_24535 | This is a variant in G6PC1 (glucose-6-phosphatase catalytic subunit 1), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | AAAGTGCTGGGATTACAAGCATAAGCCACCGTGCCTGGTCAATTTTGATCTTTTTTAAAGAGACAGGGGTCTTGCTATGTTGCCCAGACTAGTCTTGAACTCCTGGCCTCAAGTGATCCTCTCACCTCGGCCTCCCAAAGTATTGGGATTACAGGTCTGAGCCGCTGCACCCAGCCCCCAACAGGCATCTTTGGACTTTTGAGTACTGGCTTTAATTTACAAAAATTCCACTGAGAGCACCTAAGTTTGCCAGGCTCCAACATTTCTGCAGGGGCTGTTTTCTTTGCTGAAGGATCTGCACCTGTGTTCTGTTATGGTTG... | AAAGTGCTGGGATTACAAGCATAAGCCACCGTGCCTGGTCAATTTTGATCTTTTTTAAAGAGACAGGGGTCTTGCTATGTTGCCCAGACTAGTCTTGAACTCCTGGCCTCAAGTGATCCTCTCACCTCGGCCTCCCAAAGTATTGGGATTACAGGTCTGAGCCGCTGCACCCAGCCCCCAACAGGCATCTTTGGACTTTTGAGTACTGGCTTTAATTTACAAAAATTCCACTGAGAGCACCTAAGTTTGCCAGGCTCCAACATTTCTGCAGGGGCTGTTTTCTTTGCTGAAGGATCTGCACCTGTGTTCTGTTATGGTTG... |
Task1_train_24536 | With a mutation on Chromosome 17 in gene G6PC1 (glucose-6-phosphatase catalytic subunit 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | CCTGTGTTCTGTTATGGTTGCCTCTTCTGTTGCAGGTGCTTGAATGTCATTTTGTGGTTGGGATTCTGGGCTGTGCAGCTGAATGTCTGTCTGTCACGAATCTACCTTGCTGCTCATTTTCCTCATCAAGTTGTTGCTGGAGTCCTGTCAGGTATGGGCTGATCTGACTCCCTTCCTTCTCCCCCAAACCCCATTCCGTTTCTCTCCCTAATCAGGACAAAATCCCAGCATTCCAGCCACATCCTGTGTGTAATCAGTACTGTTAGCATTTCTGTGGGTTGAAAGTCAAGAATGAGCAACTTGAAATGATTAATTTCTAT... | CCTGTGTTCTGTTATGGTTGCCTCTTCTGTTGCAGGTGCTTGAATGTCATTTTGTGGTTGGGATTCTGGGCTGTGCAGCTGAATGTCTGTCTGTCACGAATCTACCTTGCTGCTCATTTTCCTCATCAAGTTGTTGCTGGAGTCCTGTCAGGTATGGGCTGATCTGACTCCCTTCCTTCTCCCCCAAACCCCATTCCGTTTCTCTCCCTAATCAGGACAAAATCCCAGCATTCCAGCCACATCCTGTGTGTAATCAGTACTGTTAGCATTTCTGTGGGTTGAAAGTCAAGAATGAGCAACTTGAAATGATTAATTTCTAT... |
Task1_train_24537 | A variant was discovered on Chromosome 17, affecting G6PC1 (glucose-6-phosphatase catalytic subunit 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | TGGGATTCTGGGCTGTGCAGCTGAATGTCTGTCTGTCACGAATCTACCTTGCTGCTCATTTTCCTCATCAAGTTGTTGCTGGAGTCCTGTCAGGTATGGGCTGATCTGACTCCCTTCCTTCTCCCCCAAACCCCATTCCGTTTCTCTCCCTAATCAGGACAAAATCCCAGCATTCCAGCCACATCCTGTGTGTAATCAGTACTGTTAGCATTTCTGTGGGTTGAAAGTCAAGAATGAGCAACTTGAAATGATTAATTTCTATAAGAGTGCCCAGATCTATAGAATGAATTGTGTAGAAGTTACCATACATCAAATTAACG... | TGGGATTCTGGGCTGTGCAGCTGAATGTCTGTCTGTCACGAATCTACCTTGCTGCTCATTTTCCTCATCAAGTTGTTGCTGGAGTCCTGTCAGGTATGGGCTGATCTGACTCCCTTCCTTCTCCCCCAAACCCCATTCCGTTTCTCTCCCTAATCAGGACAAAATCCCAGCATTCCAGCCACATCCTGTGTGTAATCAGTACTGTTAGCATTTCTGTGGGTTGAAAGTCAAGAATGAGCAACTTGAAATGATTAATTTCTATAAGAGTGCCCAGATCTATAGAATGAATTGTGTAGAAGTTACCATACATCAAATTAACG... |
Task1_train_24538 | An alteration has been detected in BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | CTGCTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAG... | CTGCTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAG... |
Task1_train_24539 | This mutation is located in gene BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | CTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCT... | CTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCT... |
Task1_train_24540 | A change on Chromosome 17 affects gene BRCA1 (BRCA1 DNA repair associated). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | GAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAG... | GAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAG... |
Task1_train_24541 | This sequence change occurs on Chromosome 17, altering BRCA1 (BRCA1 DNA repair associated). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hereditary breast ovarian cancer syndrome | GAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAG... | GAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAG... |
Task1_train_24542 | This mutation occurs in BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hereditary cancer-predisposing syndrome | GCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAAGGGAACACGCCCTGCGAACACCTTTATTTTG... | GCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAAGGGAACACGCCCTGCGAACACCTTTATTTTG... |
Task1_train_24543 | Consider a variant on Chromosome 17 in gene BRCA1 (BRCA1 DNA repair associated). Determine its clinical classification and disease relevance. | Pathogenic; Hereditary breast ovarian cancer syndrome | GCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAAGGGAACACGCCCTGCGAACACCTTTATTTTG... | GCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAAGGGAACACGCCCTGCGAACACCTTTATTTTG... |
Task1_train_24544 | A variant on Chromosome 17 in gene BRCA1 (BRCA1 DNA repair associated) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hereditary cancer-predisposing syndrome | AGAGGAGCTCCCAGGGCCTGGAAAGGCCACTTTGTAAGCTCATTCTTGGGGTCCTGTGGCTCTGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAATGAGGTA... | AGAGGAGCTCCCAGGGCCTGGAAAGGCCACTTTGTAAGCTCATTCTTGGGGTCCTGTGGCTCTGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAATGAGGTA... |
Task1_train_24545 | Here is a variant affecting BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | TGGAAAGGCCACTTTGTAAGCTCATTCTTGGGGTCCTGTGGCTCTGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAATGAGGTAGAAGCTAATTTTTTTTTT... | TGGAAAGGCCACTTTGTAAGCTCATTCTTGGGGTCCTGTGGCTCTGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAATGAGGTAGAAGCTAATTTTTTTTTT... |
Task1_train_24546 | The gene BRCA1 (BRCA1 DNA repair associated) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | AAGGCCACTTTGTAAGCTCATTCTTGGGGTCCTGTGGCTCTGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAATGAGGTAGAAGCTAATTTTTTTTTTTTTT... | AAGGCCACTTTGTAAGCTCATTCTTGGGGTCCTGTGGCTCTGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAATGAGGTAGAAGCTAATTTTTTTTTTTTTT... |
Task1_train_24547 | Chromosome 17 houses a mutation in gene BRCA1 (BRCA1 DNA repair associated). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | AGCTCATTCTTGGGGTCCTGTGGCTCTGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAATGAGGTAGAAGCTAATTTTTTTTTTTTTTTTTTGAGACGGAGT... | AGCTCATTCTTGGGGTCCTGTGGCTCTGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAATGAGGTAGAAGCTAATTTTTTTTTTTTTTTTTTGAGACGGAGT... |
Task1_train_24548 | A variant on Chromosome 17 in gene BRCA1 (BRCA1 DNA repair associated) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | TTGAGACACGGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCACCATGCCCGGCCTTGATTTATGTTTTTGTGATGAACATTCATATCTT... | TTGAGACACGGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCACCATGCCCGGCCTTGATTTATGTTTTTGTGATGAACATTCATATCTT... |
Task1_train_24549 | A mutation in BRCA1 (BRCA1 DNA repair associated), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | GCTACAGTAGGGGCATCCATAGGGACTGACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAA... | GCTACAGTAGGGGCATCCATAGGGACTGACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAA... |
Task1_train_24550 | Gene BRCA1 (BRCA1 DNA repair associated) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | GCTACAGTAGGGGCATCCATAGGGACTGACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAA... | GCTACAGTAGGGGCATCCATAGGGACTGACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAA... |
Task1_train_24551 | This variant lies on Chromosome 17 and affects the gene BRCA1 (BRCA1 DNA repair associated). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | TCCATAGGGACTGACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGGGGTATGG... | TCCATAGGGACTGACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGGGGTATGG... |
Task1_train_24552 | This variant lies on Chromosome 17 and affects the gene BRCA1 (BRCA1 DNA repair associated). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | GACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGGGGTATGGATTTTAAGTCAA... | GACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGGGGTATGGATTTTAAGTCAA... |
Task1_train_24553 | The gene BRCA1 (BRCA1 DNA repair associated) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | GACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGGGGTATGGATTTTAAGTCAA... | GACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGGGGTATGGATTTTAAGTCAA... |
Task1_train_24554 | Chromosome 17 houses a mutation in gene BRCA1 (BRCA1 DNA repair associated). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | TGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGGGGTATGGATTTTAAGTCAATTTGCC... | TGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGGGGTATGGATTTTAAGTCAATTTGCC... |
Task1_train_24555 | Gene BRCA1 (BRCA1 DNA repair associated) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hereditary cancer-predisposing syndrome | AGGTGTGAGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTATTGTT... | AGGTGTGAGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTATTGTT... |
Task1_train_24556 | This sequence change occurs on Chromosome 17, altering BRCA1 (BRCA1 DNA repair associated). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | CCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTATTGTTGTTAAGAGT... | CCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTATTGTTGTTAAGAGT... |
Task1_train_24557 | An alteration has been detected in BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hereditary breast ovarian cancer syndrome | CTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTATTGTTGTTAAGAGTTTAGAATTGGAGGCCGGGTGCAGTGGCTCATGC... | CTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTATTGTTGTTAAGAGTTTAGAATTGGAGGCCGGGTGCAGTGGCTCATGC... |
Task1_train_24558 | This gene mutation involves BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Hereditary cancer-predisposing syndrome | TGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTATTGTTGTTAAGAGTTTAGAATTGGAGGCCGGGTGCAGTGGCTCATGCT... | TGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTATTGTTGTTAAGAGTTTAGAATTGGAGGCCGGGTGCAGTGGCTCATGCT... |
Task1_train_24559 | Assess the clinical impact of this variant on gene BRCA1 (BRCA1 DNA repair associated), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | TGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTATTGTTGTTAAGAGTTTAGAATTGGAGGCCGGGTGCAGTGGCTCATGCT... | TGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTATTGTTGTTAAGAGTTTAGAATTGGAGGCCGGGTGCAGTGGCTCATGCT... |
Task1_train_24560 | A mutation in BRCA1 (BRCA1 DNA repair associated), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | GTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTATTGTTGTTAAGAGTTTAGAATTGGAGGCCGGGTGCAGTGGCTCATGCTTGTAA... | GTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTATTGTTGTTAAGAGTTTAGAATTGGAGGCCGGGTGCAGTGGCTCATGCTTGTAA... |
Task1_train_24561 | This mutation is located in gene BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | CAGCTAATACTATTCCACTGTTCTGTATATTTCTCCATAGCATTTATTGTTATCTTAAATTCATCTTTATTGTGTATCTCCCCTCGACAGAACCTGAATCCTACCAGGGACTTAGTTAGTCTTATTTACTGTTGCATTCCTAGTGCCCAGAACACAGTAGGCTCCCAATAAATAGCCACTGAATAAAAGTTAAAACCAACAAAAATAATCATTTAATTAATTATGAATACATCGAATTGTGCACAATAGTTTATAAAATTACTTTTTTTTTTTTTTTAAGACAGGGTCTCATTCTGTCTCACAGGCTGGAGTGCAGTGGT... | CAGCTAATACTATTCCACTGTTCTGTATATTTCTCCATAGCATTTATTGTTATCTTAAATTCATCTTTATTGTGTATCTCCCCTCGACAGAACCTGAATCCTACCAGGGACTTAGTTAGTCTTATTTACTGTTGCATTCCTAGTGCCCAGAACACAGTAGGCTCCCAATAAATAGCCACTGAATAAAAGTTAAAACCAACAAAAATAATCATTTAATTAATTATGAATACATCGAATTGTGCACAATAGTTTATAAAATTACTTTTTTTTTTTTTTTAAGACAGGGTCTCATTCTGTCTCACAGGCTGGAGTGCAGTGGT... |
Task1_train_24562 | Here’s a variant in BRCA1 (BRCA1 DNA repair associated) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | AGCTAATACTATTCCACTGTTCTGTATATTTCTCCATAGCATTTATTGTTATCTTAAATTCATCTTTATTGTGTATCTCCCCTCGACAGAACCTGAATCCTACCAGGGACTTAGTTAGTCTTATTTACTGTTGCATTCCTAGTGCCCAGAACACAGTAGGCTCCCAATAAATAGCCACTGAATAAAAGTTAAAACCAACAAAAATAATCATTTAATTAATTATGAATACATCGAATTGTGCACAATAGTTTATAAAATTACTTTTTTTTTTTTTTTAAGACAGGGTCTCATTCTGTCTCACAGGCTGGAGTGCAGTGGTG... | AGCTAATACTATTCCACTGTTCTGTATATTTCTCCATAGCATTTATTGTTATCTTAAATTCATCTTTATTGTGTATCTCCCCTCGACAGAACCTGAATCCTACCAGGGACTTAGTTAGTCTTATTTACTGTTGCATTCCTAGTGCCCAGAACACAGTAGGCTCCCAATAAATAGCCACTGAATAAAAGTTAAAACCAACAAAAATAATCATTTAATTAATTATGAATACATCGAATTGTGCACAATAGTTTATAAAATTACTTTTTTTTTTTTTTTAAGACAGGGTCTCATTCTGTCTCACAGGCTGGAGTGCAGTGGTG... |
Task1_train_24563 | This alteration occurs within gene BRCA1 (BRCA1 DNA repair associated) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | CTTGGCCACTCAAAGTGCTGGGATTATAGGCATGAGCCACCACGCCTGGCCTATAAAATTACTTTCACATTTCATTTTGCCTGATCTGTTGTCACAGAAGTTCTCAGATGGCTGTTCTGAAATTATTCCTCCTCCTACACTCTATCTTATTTACTTCTCACTGTTCTCAGTATCATAAAGTGCAACATCTTTTTGAAGCAATCTGAATTATAAACAGATACATTTGCATGTATATATATGTATATATGCATATGCACACACACACTTTTTTTTTTTTAAGAGACAGGGTCTTGCTCTGTGCAAGTGCAAGAGTGCAATGG... | CTTGGCCACTCAAAGTGCTGGGATTATAGGCATGAGCCACCACGCCTGGCCTATAAAATTACTTTCACATTTCATTTTGCCTGATCTGTTGTCACAGAAGTTCTCAGATGGCTGTTCTGAAATTATTCCTCCTCCTACACTCTATCTTATTTACTTCTCACTGTTCTCAGTATCATAAAGTGCAACATCTTTTTGAAGCAATCTGAATTATAAACAGATACATTTGCATGTATATATATGTATATATGCATATGCACACACACACTTTTTTTTTTTTAAGAGACAGGGTCTTGCTCTGTGCAAGTGCAAGAGTGCAATGG... |
Task1_train_24564 | A genomic change on Chromosome 17 affects BRCA1 (BRCA1 DNA repair associated). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | TTGGCCACTCAAAGTGCTGGGATTATAGGCATGAGCCACCACGCCTGGCCTATAAAATTACTTTCACATTTCATTTTGCCTGATCTGTTGTCACAGAAGTTCTCAGATGGCTGTTCTGAAATTATTCCTCCTCCTACACTCTATCTTATTTACTTCTCACTGTTCTCAGTATCATAAAGTGCAACATCTTTTTGAAGCAATCTGAATTATAAACAGATACATTTGCATGTATATATATGTATATATGCATATGCACACACACACTTTTTTTTTTTTAAGAGACAGGGTCTTGCTCTGTGCAAGTGCAAGAGTGCAATGGT... | TTGGCCACTCAAAGTGCTGGGATTATAGGCATGAGCCACCACGCCTGGCCTATAAAATTACTTTCACATTTCATTTTGCCTGATCTGTTGTCACAGAAGTTCTCAGATGGCTGTTCTGAAATTATTCCTCCTCCTACACTCTATCTTATTTACTTCTCACTGTTCTCAGTATCATAAAGTGCAACATCTTTTTGAAGCAATCTGAATTATAAACAGATACATTTGCATGTATATATATGTATATATGCATATGCACACACACACTTTTTTTTTTTTAAGAGACAGGGTCTTGCTCTGTGCAAGTGCAAGAGTGCAATGGT... |
Task1_train_24565 | With a mutation on Chromosome 17 in gene BRCA1 (BRCA1 DNA repair associated), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Hereditary cancer-predisposing syndrome | CACTCAAAGTGCTGGGATTATAGGCATGAGCCACCACGCCTGGCCTATAAAATTACTTTCACATTTCATTTTGCCTGATCTGTTGTCACAGAAGTTCTCAGATGGCTGTTCTGAAATTATTCCTCCTCCTACACTCTATCTTATTTACTTCTCACTGTTCTCAGTATCATAAAGTGCAACATCTTTTTGAAGCAATCTGAATTATAAACAGATACATTTGCATGTATATATATGTATATATGCATATGCACACACACACTTTTTTTTTTTTAAGAGACAGGGTCTTGCTCTGTGCAAGTGCAAGAGTGCAATGGTATGAT... | CACTCAAAGTGCTGGGATTATAGGCATGAGCCACCACGCCTGGCCTATAAAATTACTTTCACATTTCATTTTGCCTGATCTGTTGTCACAGAAGTTCTCAGATGGCTGTTCTGAAATTATTCCTCCTCCTACACTCTATCTTATTTACTTCTCACTGTTCTCAGTATCATAAAGTGCAACATCTTTTTGAAGCAATCTGAATTATAAACAGATACATTTGCATGTATATATATGTATATATGCATATGCACACACACACTTTTTTTTTTTTAAGAGACAGGGTCTTGCTCTGTGCAAGTGCAAGAGTGCAATGGTATGAT... |
Task1_train_24566 | A variant affecting Chromosome 17, within the gene BRCA1 (BRCA1 DNA repair associated), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | GATTATAGGCATGAGCCACCACGCCTGGCCTATAAAATTACTTTCACATTTCATTTTGCCTGATCTGTTGTCACAGAAGTTCTCAGATGGCTGTTCTGAAATTATTCCTCCTCCTACACTCTATCTTATTTACTTCTCACTGTTCTCAGTATCATAAAGTGCAACATCTTTTTGAAGCAATCTGAATTATAAACAGATACATTTGCATGTATATATATGTATATATGCATATGCACACACACACTTTTTTTTTTTTAAGAGACAGGGTCTTGCTCTGTGCAAGTGCAAGAGTGCAATGGTATGATCATAGCTCACTGCAG... | GATTATAGGCATGAGCCACCACGCCTGGCCTATAAAATTACTTTCACATTTCATTTTGCCTGATCTGTTGTCACAGAAGTTCTCAGATGGCTGTTCTGAAATTATTCCTCCTCCTACACTCTATCTTATTTACTTCTCACTGTTCTCAGTATCATAAAGTGCAACATCTTTTTGAAGCAATCTGAATTATAAACAGATACATTTGCATGTATATATATGTATATATGCATATGCACACACACACTTTTTTTTTTTTAAGAGACAGGGTCTTGCTCTGTGCAAGTGCAAGAGTGCAATGGTATGATCATAGCTCACTGCAG... |
Task1_train_24567 | A variant affecting Chromosome 17, within the gene BRCA1 (BRCA1 DNA repair associated), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | AGGCATGAGCCACCACGCCTGGCCTATAAAATTACTTTCACATTTCATTTTGCCTGATCTGTTGTCACAGAAGTTCTCAGATGGCTGTTCTGAAATTATTCCTCCTCCTACACTCTATCTTATTTACTTCTCACTGTTCTCAGTATCATAAAGTGCAACATCTTTTTGAAGCAATCTGAATTATAAACAGATACATTTGCATGTATATATATGTATATATGCATATGCACACACACACTTTTTTTTTTTTAAGAGACAGGGTCTTGCTCTGTGCAAGTGCAAGAGTGCAATGGTATGATCATAGCTCACTGCAGCCTTGA... | AGGCATGAGCCACCACGCCTGGCCTATAAAATTACTTTCACATTTCATTTTGCCTGATCTGTTGTCACAGAAGTTCTCAGATGGCTGTTCTGAAATTATTCCTCCTCCTACACTCTATCTTATTTACTTCTCACTGTTCTCAGTATCATAAAGTGCAACATCTTTTTGAAGCAATCTGAATTATAAACAGATACATTTGCATGTATATATATGTATATATGCATATGCACACACACACTTTTTTTTTTTTAAGAGACAGGGTCTTGCTCTGTGCAAGTGCAAGAGTGCAATGGTATGATCATAGCTCACTGCAGCCTTGA... |
Task1_train_24568 | This alteration in BRCA1 (BRCA1 DNA repair associated) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | GCCTATAAAATTACTTTCACATTTCATTTTGCCTGATCTGTTGTCACAGAAGTTCTCAGATGGCTGTTCTGAAATTATTCCTCCTCCTACACTCTATCTTATTTACTTCTCACTGTTCTCAGTATCATAAAGTGCAACATCTTTTTGAAGCAATCTGAATTATAAACAGATACATTTGCATGTATATATATGTATATATGCATATGCACACACACACTTTTTTTTTTTTAAGAGACAGGGTCTTGCTCTGTGCAAGTGCAAGAGTGCAATGGTATGATCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGTGATTC... | GCCTATAAAATTACTTTCACATTTCATTTTGCCTGATCTGTTGTCACAGAAGTTCTCAGATGGCTGTTCTGAAATTATTCCTCCTCCTACACTCTATCTTATTTACTTCTCACTGTTCTCAGTATCATAAAGTGCAACATCTTTTTGAAGCAATCTGAATTATAAACAGATACATTTGCATGTATATATATGTATATATGCATATGCACACACACACTTTTTTTTTTTTAAGAGACAGGGTCTTGCTCTGTGCAAGTGCAAGAGTGCAATGGTATGATCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGTGATTC... |
Task1_train_24569 | The gene BRCA1 (BRCA1 DNA repair associated) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | CCTATAAAATTACTTTCACATTTCATTTTGCCTGATCTGTTGTCACAGAAGTTCTCAGATGGCTGTTCTGAAATTATTCCTCCTCCTACACTCTATCTTATTTACTTCTCACTGTTCTCAGTATCATAAAGTGCAACATCTTTTTGAAGCAATCTGAATTATAAACAGATACATTTGCATGTATATATATGTATATATGCATATGCACACACACACTTTTTTTTTTTTAAGAGACAGGGTCTTGCTCTGTGCAAGTGCAAGAGTGCAATGGTATGATCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGTGATTCT... | CCTATAAAATTACTTTCACATTTCATTTTGCCTGATCTGTTGTCACAGAAGTTCTCAGATGGCTGTTCTGAAATTATTCCTCCTCCTACACTCTATCTTATTTACTTCTCACTGTTCTCAGTATCATAAAGTGCAACATCTTTTTGAAGCAATCTGAATTATAAACAGATACATTTGCATGTATATATATGTATATATGCATATGCACACACACACTTTTTTTTTTTTAAGAGACAGGGTCTTGCTCTGTGCAAGTGCAAGAGTGCAATGGTATGATCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGTGATTCT... |
Task1_train_24570 | Gene BRCA1 (BRCA1 DNA repair associated) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; BRCA1-related cancer predisposition | AAATTACTTTCACATTTCATTTTGCCTGATCTGTTGTCACAGAAGTTCTCAGATGGCTGTTCTGAAATTATTCCTCCTCCTACACTCTATCTTATTTACTTCTCACTGTTCTCAGTATCATAAAGTGCAACATCTTTTTGAAGCAATCTGAATTATAAACAGATACATTTGCATGTATATATATGTATATATGCATATGCACACACACACTTTTTTTTTTTTAAGAGACAGGGTCTTGCTCTGTGCAAGTGCAAGAGTGCAATGGTATGATCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGTGATTCTTCTGGC... | AAATTACTTTCACATTTCATTTTGCCTGATCTGTTGTCACAGAAGTTCTCAGATGGCTGTTCTGAAATTATTCCTCCTCCTACACTCTATCTTATTTACTTCTCACTGTTCTCAGTATCATAAAGTGCAACATCTTTTTGAAGCAATCTGAATTATAAACAGATACATTTGCATGTATATATATGTATATATGCATATGCACACACACACTTTTTTTTTTTTAAGAGACAGGGTCTTGCTCTGTGCAAGTGCAAGAGTGCAATGGTATGATCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGTGATTCTTCTGGC... |
Task1_train_24571 | This variant lies on Chromosome 17 and affects the gene BRCA1 (BRCA1 DNA repair associated). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | CTTTCACATTTCATTTTGCCTGATCTGTTGTCACAGAAGTTCTCAGATGGCTGTTCTGAAATTATTCCTCCTCCTACACTCTATCTTATTTACTTCTCACTGTTCTCAGTATCATAAAGTGCAACATCTTTTTGAAGCAATCTGAATTATAAACAGATACATTTGCATGTATATATATGTATATATGCATATGCACACACACACTTTTTTTTTTTTAAGAGACAGGGTCTTGCTCTGTGCAAGTGCAAGAGTGCAATGGTATGATCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGTGATTCTTCTGGCTTAGCT... | CTTTCACATTTCATTTTGCCTGATCTGTTGTCACAGAAGTTCTCAGATGGCTGTTCTGAAATTATTCCTCCTCCTACACTCTATCTTATTTACTTCTCACTGTTCTCAGTATCATAAAGTGCAACATCTTTTTGAAGCAATCTGAATTATAAACAGATACATTTGCATGTATATATATGTATATATGCATATGCACACACACACTTTTTTTTTTTTAAGAGACAGGGTCTTGCTCTGTGCAAGTGCAAGAGTGCAATGGTATGATCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGTGATTCTTCTGGCTTAGCT... |
Task1_train_24572 | Here is a variant affecting BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | AGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGGGGAGGTTGCAGCAAGCCAAGATCGTGCCATTGCACTCCAGCAGCCTGGGCAACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACT... | AGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGGGGAGGTTGCAGCAAGCCAAGATCGTGCCATTGCACTCCAGCAGCCTGGGCAACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACT... |
Task1_train_24573 | Here is a mutation in BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | AGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGGGGAGGTTGCAGCAAGCCAAGATCGTGCCATTGCACTCCAGCAGCCTGGGCAACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACT... | AGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGGGGAGGTTGCAGCAAGCCAAGATCGTGCCATTGCACTCCAGCAGCCTGGGCAACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACT... |
Task1_train_24574 | This variant lies on Chromosome 17 and affects the gene BRCA1 (BRCA1 DNA repair associated). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hereditary breast ovarian cancer syndrome | ATCGCTTGAACCCGGGAGGGGGAGGTTGCAGCAAGCCAAGATCGTGCCATTGCACTCCAGCAGCCTGGGCAACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACTTGAAGACAGTGTCTTA... | ATCGCTTGAACCCGGGAGGGGGAGGTTGCAGCAAGCCAAGATCGTGCCATTGCACTCCAGCAGCCTGGGCAACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACTTGAAGACAGTGTCTTA... |
Task1_train_24575 | Gene BRCA1 (BRCA1 DNA repair associated) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | CTTGAACCCGGGAGGGGGAGGTTGCAGCAAGCCAAGATCGTGCCATTGCACTCCAGCAGCCTGGGCAACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACTTGAAGACAGTGTCTTATTTC... | CTTGAACCCGGGAGGGGGAGGTTGCAGCAAGCCAAGATCGTGCCATTGCACTCCAGCAGCCTGGGCAACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACTTGAAGACAGTGTCTTATTTC... |
Task1_train_24576 | The following genetic variant occurs in BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | TTGAACCCGGGAGGGGGAGGTTGCAGCAAGCCAAGATCGTGCCATTGCACTCCAGCAGCCTGGGCAACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACTTGAAGACAGTGTCTTATTTCC... | TTGAACCCGGGAGGGGGAGGTTGCAGCAAGCCAAGATCGTGCCATTGCACTCCAGCAGCCTGGGCAACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACTTGAAGACAGTGTCTTATTTCC... |
Task1_train_24577 | This sequence change occurs on Chromosome 17, altering BRCA1 (BRCA1 DNA repair associated). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | GGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGT... | GGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGT... |
Task1_train_24578 | Here is a mutation in BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Fanconi anemia, complementation group S | GTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTT... | GTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTT... |
Task1_train_24579 | This genomic variant is located on Chromosome 17, within the BRCA1 (BRCA1 DNA repair associated) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Pancreatic cancer, susceptibility to, 4 | GTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTT... | GTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTT... |
Task1_train_24580 | A variant affecting Chromosome 17, within the gene BRCA1 (BRCA1 DNA repair associated), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | GTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTT... | GTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTT... |
Task1_train_24581 | Here is a variant affecting BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Familial cancer of breast | GTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTT... | GTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTT... |
Task1_train_24582 | A sequence alteration has been identified in BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Hereditary breast ovarian cancer syndrome | GTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTT... | GTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTT... |
Task1_train_24583 | This gene mutation involves BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Hereditary cancer-predisposing syndrome | GTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTT... | GTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTT... |
Task1_train_24584 | The variant affects gene BRCA1 (BRCA1 DNA repair associated), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not specified | GTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTT... | GTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTT... |
Task1_train_24585 | Given this variant in gene BRCA1 (BRCA1 DNA repair associated) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Breast and/or ovarian cancer | GTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTT... | GTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTT... |
Task1_train_24586 | Here’s a variant in BRCA1 (BRCA1 DNA repair associated) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | GTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTT... | GTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTT... |
Task1_train_24587 | The following genetic variant occurs in BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | GTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTT... | GTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTT... |
Task1_train_24588 | Assess the clinical impact of this variant on gene BRCA1 (BRCA1 DNA repair associated), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Hereditary breast ovarian cancer syndrome | GGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAGTTTGAATCCATGCTTTGCTCTTCTTGATTATTTTCTTCCAAGCCCGTTCCTCTT... | GGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAGTTTGAATCCATGCTTTGCTCTTCTTGATTATTTTCTTCCAAGCCCGTTCCTCTT... |
Task1_train_24589 | Mutation context: Chromosome 17, Gene BRCA1 (BRCA1 DNA repair associated). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | AGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACGTGCCACCACACCCAGCTAATTTTTGTA... | AGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACGTGCCACCACACCCAGCTAATTTTTGTA... |
Task1_train_24590 | The gene BRCA1 (BRCA1 DNA repair associated) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | AGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACGTGCCACCACACCCAGCTAATTTTTGTA... | AGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACGTGCCACCACACCCAGCTAATTTTTGTA... |
Task1_train_24591 | This alteration in BRCA1 (BRCA1 DNA repair associated) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hereditary cancer-predisposing syndrome | TAATATAGACAAGGACTTGCTATGTTGCCCAAACTGGTCTTGAACTCCTGAGCTCAGGCAATCCTCAAGCCTCCTAGTGCTGGAATTACAGGCGTGAGCCACGGCACCCAGCTACTTTTTTTTTTTTTTAATTGCAGAGACAGTGTCTCACTGTGTTGCCCAAGCTGGGCTCAAAGGACCTCCTACCTCAGCCTCCCAAAGGGTTGGGATTATAGGCATGAGCCATGGCACCCAGCTGAAGTAATTTCCAAATGCTTAAAAATATCAGTGACCTTATGGCTATTTTAGATAAGCATCACAGAGCAGATAAAGCTCCAAAG... | TAATATAGACAAGGACTTGCTATGTTGCCCAAACTGGTCTTGAACTCCTGAGCTCAGGCAATCCTCAAGCCTCCTAGTGCTGGAATTACAGGCGTGAGCCACGGCACCCAGCTACTTTTTTTTTTTTTTAATTGCAGAGACAGTGTCTCACTGTGTTGCCCAAGCTGGGCTCAAAGGACCTCCTACCTCAGCCTCCCAAAGGGTTGGGATTATAGGCATGAGCCATGGCACCCAGCTGAAGTAATTTCCAAATGCTTAAAAATATCAGTGACCTTATGGCTATTTTAGATAAGCATCACAGAGCAGATAAAGCTCCAAAG... |
Task1_train_24592 | Assess the clinical impact of this variant on gene BRCA1 (BRCA1 DNA repair associated), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Hereditary breast ovarian cancer syndrome | TAATATAGACAAGGACTTGCTATGTTGCCCAAACTGGTCTTGAACTCCTGAGCTCAGGCAATCCTCAAGCCTCCTAGTGCTGGAATTACAGGCGTGAGCCACGGCACCCAGCTACTTTTTTTTTTTTTTAATTGCAGAGACAGTGTCTCACTGTGTTGCCCAAGCTGGGCTCAAAGGACCTCCTACCTCAGCCTCCCAAAGGGTTGGGATTATAGGCATGAGCCATGGCACCCAGCTGAAGTAATTTCCAAATGCTTAAAAATATCAGTGACCTTATGGCTATTTTAGATAAGCATCACAGAGCAGATAAAGCTCCAAAG... | TAATATAGACAAGGACTTGCTATGTTGCCCAAACTGGTCTTGAACTCCTGAGCTCAGGCAATCCTCAAGCCTCCTAGTGCTGGAATTACAGGCGTGAGCCACGGCACCCAGCTACTTTTTTTTTTTTTTAATTGCAGAGACAGTGTCTCACTGTGTTGCCCAAGCTGGGCTCAAAGGACCTCCTACCTCAGCCTCCCAAAGGGTTGGGATTATAGGCATGAGCCATGGCACCCAGCTGAAGTAATTTCCAAATGCTTAAAAATATCAGTGACCTTATGGCTATTTTAGATAAGCATCACAGAGCAGATAAAGCTCCAAAG... |
Task1_train_24593 | This gene mutation involves BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | AATTTTAAAAAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTT... | AATTTTAAAAAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTT... |
Task1_train_24594 | This mutation is located in gene BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hereditary cancer-predisposing syndrome | AATTTTAAAAAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTT... | AATTTTAAAAAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTT... |
Task1_train_24595 | Assess the clinical impact of this variant on gene BRCA1 (BRCA1 DNA repair associated), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Hereditary breast ovarian cancer syndrome | AATTTTAAAAAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTT... | AATTTTAAAAAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTT... |
Task1_train_24596 | The gene BRCA1 (BRCA1 DNA repair associated), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hereditary cancer-predisposing syndrome | AATTTTAAAAAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTT... | AATTTTAAAAAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTT... |
Task1_train_24597 | The following genetic variant occurs in BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | AATTTTAAAAAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTT... | AATTTTAAAAAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTT... |
Task1_train_24598 | This alteration occurs within gene BRCA1 (BRCA1 DNA repair associated) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Hereditary breast ovarian cancer syndrome | AATTTTAAAAAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTT... | AATTTTAAAAAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTT... |
Task1_train_24599 | Here is a mutation in BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | AATTTTAAAAAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTT... | AATTTTAAAAAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTT... |
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