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_13900 | The following genetic variant occurs in CHAT (choline O-acetyltransferase) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Familial infantile myasthenia | CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGA... | CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGA... |
Task1_train_13901 | The gene CHAT (choline O-acetyltransferase) is located on Chromosome 10, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Familial infantile myasthenia | CCTCATCCTCAACAGGAGGGAAGAGAGGATGTCCCAAGGCTAGGCTGGCTTCCCAGAGTAGAAGGTCTGCTGTGGGAGACATCTCCTTCCCCAGGATTTGCAAAAAGTGAGGGAAAGGGGATGCATGGGGACTGGAGACTCCTTTCAGGCAAGGGCATCTGTGGACACTCCTTGTGAACCTGGAGAATTCACCTGGGCAGAGCGAAGACCAGTGCAGTTAGCATCTGTGTACACAGCAGGCATTGAGAAGACCTAGGGGATGGTCTTAAAGATTTACTAACCACCCTGGGAAGGGGAGCTGTCCACATGCCCAAGGAAGG... | CCTCATCCTCAACAGGAGGGAAGAGAGGATGTCCCAAGGCTAGGCTGGCTTCCCAGAGTAGAAGGTCTGCTGTGGGAGACATCTCCTTCCCCAGGATTTGCAAAAAGTGAGGGAAAGGGGATGCATGGGGACTGGAGACTCCTTTCAGGCAAGGGCATCTGTGGACACTCCTTGTGAACCTGGAGAATTCACCTGGGCAGAGCGAAGACCAGTGCAGTTAGCATCTGTGTACACAGCAGGCATTGAGAAGACCTAGGGGATGGTCTTAAAGATTTACTAACCACCCTGGGAAGGGGAGCTGTCCACATGCCCAAGGAAGG... |
Task1_train_13902 | Here is a mutation in CHAT (choline O-acetyltransferase) on Chromosome 10. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Congenital myasthenic syndrome | TATTGATTCTGTTATTTCTGATGCGCTCTCCAGCTGCTGGGCCAGCTGTTTTAGCCTCTACAGTGGTGCTAATGGCTTATCATCTTTCATGGAGCTGTGGGGGTGAACCGATATAATACATGCACAGAATCTGGAACTCAGCCTTGGTAGCAGTTTTCAAAAGACACCGCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTTAGTGACAGGCACAGATAAGTACTAATGTGGGGGGTGGGTGCAGCCCTCTCCACCACCTCTCATGGGTTAGTCTATGC... | TATTGATTCTGTTATTTCTGATGCGCTCTCCAGCTGCTGGGCCAGCTGTTTTAGCCTCTACAGTGGTGCTAATGGCTTATCATCTTTCATGGAGCTGTGGGGGTGAACCGATATAATACATGCACAGAATCTGGAACTCAGCCTTGGTAGCAGTTTTCAAAAGACACCGCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTTAGTGACAGGCACAGATAAGTACTAATGTGGGGGGTGGGTGCAGCCCTCTCCACCACCTCTCATGGGTTAGTCTATGC... |
Task1_train_13903 | This mutation is located in gene CHAT (choline O-acetyltransferase) on Chromosome 10. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Familial infantile myasthenia | TTTCTCTAAAATGCAAACGCAGGGCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTCAGTTTCACCTGACTGAGCAGAGTCAAGGCCGGGAAATCATCCCCTGCTTTAGGGGGAGTAATAAACAACTGGTTTGAATAGGTCATTTGAATTCAAGCTATTTAAATTTGCTTGAATGTACAGTGCAACTTGACAAAGGGGCCTTTTTCCCCAAGGGGAGGGGGCCGTTCAGGCCCTAACGGGACCCAGGCAGGAGGGCCTGGGGCAGCAGCAAGCAGTGGTGGCAGCCACATCCTGGCAACCACGTCTGCACTGTAGCTGTTG... | TTTCTCTAAAATGCAAACGCAGGGCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTCAGTTTCACCTGACTGAGCAGAGTCAAGGCCGGGAAATCATCCCCTGCTTTAGGGGGAGTAATAAACAACTGGTTTGAATAGGTCATTTGAATTCAAGCTATTTAAATTTGCTTGAATGTACAGTGCAACTTGACAAAGGGGCCTTTTTCCCCAAGGGGAGGGGGCCGTTCAGGCCCTAACGGGACCCAGGCAGGAGGGCCTGGGGCAGCAGCAAGCAGTGGTGGCAGCCACATCCTGGCAACCACGTCTGCACTGTAGCTGTTG... |
Task1_train_13904 | The gene CHAT (choline O-acetyltransferase) on Chromosome 10 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Familial infantile myasthenia | GATTTCTAAACGATATAAATATATGACAATAACAACTTTAAATTTATTAAAATGTCTAGGAAAACACCCTCCAAAGCATTGCCATAGGGTTGTGTTAATAATTTTAAGTTGATGAGAACAACCAAATCAAAGAGATGGGTTTGGGGAAAGGAGAGATACAAAGATGCTTAGGATGTGAATCTGGTGTGTGGTTGGACATGGAGGGTAAGGAAAGGGGGAAAGAAGCAAGGAAACCTAATAACTGGTAAGCATATTTGCCAGTGGTCGTGGAGAAATAAAGTTCCAATGGCAAGGTGGTCCAGAGCCCCCATCACTTACTC... | GATTTCTAAACGATATAAATATATGACAATAACAACTTTAAATTTATTAAAATGTCTAGGAAAACACCCTCCAAAGCATTGCCATAGGGTTGTGTTAATAATTTTAAGTTGATGAGAACAACCAAATCAAAGAGATGGGTTTGGGGAAAGGAGAGATACAAAGATGCTTAGGATGTGAATCTGGTGTGTGGTTGGACATGGAGGGTAAGGAAAGGGGGAAAGAAGCAAGGAAACCTAATAACTGGTAAGCATATTTGCCAGTGGTCGTGGAGAAATAAAGTTCCAATGGCAAGGTGGTCCAGAGCCCCCATCACTTACTC... |
Task1_train_13905 | A change on Chromosome 10 affects gene CHAT (choline O-acetyltransferase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Respiratory insufficiency | TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAG... | TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAG... |
Task1_train_13906 | Here is a mutation in CHAT (choline O-acetyltransferase) on Chromosome 10. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Aspiration pneumonia | TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAG... | TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAG... |
Task1_train_13907 | This is a variant in CHAT (choline O-acetyltransferase), located on Chromosome 10. Is this mutation a likely cause of disease or not? | Pathogenic; Gastroesophageal reflux | TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAG... | TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAG... |
Task1_train_13908 | This alteration occurs within gene CHAT (choline O-acetyltransferase) located on Chromosome 10. Is it associated with a disease or is it a benign variant? | Pathogenic; Decreased activity of the pyruvate dehydrogenase complex | TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAG... | TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAG... |
Task1_train_13909 | A change on Chromosome 10 affects gene CHAT (choline O-acetyltransferase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Progressive muscle weakness | TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAG... | TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAG... |
Task1_train_13910 | A variant found in Chromosome 10 affects CHAT (choline O-acetyltransferase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Progressive ptosis | TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAG... | TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAG... |
Task1_train_13911 | Gene CHAT (choline O-acetyltransferase) on Chromosome 10 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Apnea, central sleep | TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAG... | TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAG... |
Task1_train_13912 | Consider a variant on Chromosome 10 in gene CHAT (choline O-acetyltransferase). Determine its clinical classification and disease relevance. | Pathogenic; External ophthalmoplegia | TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAG... | TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAG... |
Task1_train_13913 | The gene CHAT (choline O-acetyltransferase), on Chromosome 10, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Febrile seizure (within the age range of 3 months to 6 years) | TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAG... | TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAG... |
Task1_train_13914 | The gene CHAT (choline O-acetyltransferase) on Chromosome 10 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Pes planus | TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAG... | TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAG... |
Task1_train_13915 | This variant affects the gene CHAT (choline O-acetyltransferase) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Lactic acidosis | TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAG... | TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAG... |
Task1_train_13916 | Here is a genetic alteration in CHAT (choline O-acetyltransferase) on Chromosome 10. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Familial infantile myasthenia | TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAG... | TCTAAAGAGCAGTGACAACAAGCCCACTAGCTGGAATCAGGCAAATCCTGCCTCTGCTTTTTCTGAACTATGTGATCTTCAGCAAAATGATCTGAATGTTCATTAGAAGATGGTTTACTGACCAGGCTTGGTGGCTTACAACTATAATCCCAACACCTTGGGAGGCTGAGGCAGGAGGATTGCTCCAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACCTCATCTCCCTATTTTTAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGAAGTCCCAGCTACTAAAGAGGCTGAAATAAGAGGATTGCTTGAG... |
Task1_train_13917 | This alteration in OGDHL (oxoglutarate dehydrogenase L) on Chromosome 10 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Yoon-Bellen neurodevelopmental syndrome | GGGACTAAGGCTCCAAGGACTACATAACCGGCCTAAGATCTAAGGCAGGAGTTTTGAGACATGTAGCAGGTTCCTTAATACAGTTCTGGCTGCAGAACAAACACAAAGCCAGTACTGATGATGCCCCATCATTGCTCATCACCAGAGAAGGGCAGGGCCAGTTCTGGGTAGCATGGCCTATGGGACAGATGGAGCCAGGACAGAGCCTCAGGGCCGAGGTGAGGGGCAATCAGCGGCCCCACCATGTACCATATGGGCCGTGCGCGCCTCAGGATGGTCATGAAGCGTGGGCTGATGTAGTCATAGTAGCCCATGTTCTT... | GGGACTAAGGCTCCAAGGACTACATAACCGGCCTAAGATCTAAGGCAGGAGTTTTGAGACATGTAGCAGGTTCCTTAATACAGTTCTGGCTGCAGAACAAACACAAAGCCAGTACTGATGATGCCCCATCATTGCTCATCACCAGAGAAGGGCAGGGCCAGTTCTGGGTAGCATGGCCTATGGGACAGATGGAGCCAGGACAGAGCCTCAGGGCCGAGGTGAGGGGCAATCAGCGGCCCCACCATGTACCATATGGGCCGTGCGCGCCTCAGGATGGTCATGAAGCGTGGGCTGATGTAGTCATAGTAGCCCATGTTCTT... |
Task1_train_13918 | A variant found in Chromosome 10 affects OGDHL (oxoglutarate dehydrogenase L). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Yoon-Bellen neurodevelopmental syndrome | AAGCAGCAAGACAAGCCCAGGGGCATCTCCAAGCCAGCTCCTGCAGGACGGGGATGACCCACTGCACAGCTGCCACTTGCCCTCTCTTGGTGGGGACGGCCAAGGACCCAGCCCCCCACACCCAGCCTGGCCCAGATCTGGCCTCCCAAGAAGCTGCCTTCACGGCAGGCAGCCCCAAGCAGGGAGCCTCACCTCCCTCCTCACTGATACCCGGTGTTGTGAGGATGCCGAGTATGCAGCCTGTAAAGTGCTCATAACATGCCACTCAGGGATAATGGTGGCAATGAGCCCCCTGCCTGTCTCCCTTCTGCCTGGTCAGG... | AAGCAGCAAGACAAGCCCAGGGGCATCTCCAAGCCAGCTCCTGCAGGACGGGGATGACCCACTGCACAGCTGCCACTTGCCCTCTCTTGGTGGGGACGGCCAAGGACCCAGCCCCCCACACCCAGCCTGGCCCAGATCTGGCCTCCCAAGAAGCTGCCTTCACGGCAGGCAGCCCCAAGCAGGGAGCCTCACCTCCCTCCTCACTGATACCCGGTGTTGTGAGGATGCCGAGTATGCAGCCTGTAAAGTGCTCATAACATGCCACTCAGGGATAATGGTGGCAATGAGCCCCCTGCCTGTCTCCCTTCTGCCTGGTCAGG... |
Task1_train_13919 | Chromosome 10 houses a mutation in gene OGDHL (oxoglutarate dehydrogenase L). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Yoon-Bellen neurodevelopmental syndrome | AGGCTGGAGACAGCAGGAGAGATAGTCCTGAGGGCAAAGGGACACAGAGGAGGGAGTGACAGGCTCACTGCCCAGGGGACCCAGAGAGCCACCGAAAGGGAAGATGGGCAGGACTTTGAAAGAGGCTAGGCAGTGGCCGGAAGCGGTGGCTCCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGCCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTGCTTGGAAGGTTGA... | AGGCTGGAGACAGCAGGAGAGATAGTCCTGAGGGCAAAGGGACACAGAGGAGGGAGTGACAGGCTCACTGCCCAGGGGACCCAGAGAGCCACCGAAAGGGAAGATGGGCAGGACTTTGAAAGAGGCTAGGCAGTGGCCGGAAGCGGTGGCTCCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGCCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTGCTTGGAAGGTTGA... |
Task1_train_13920 | A genomic change on Chromosome 10 affects OGDHL (oxoglutarate dehydrogenase L). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Yoon-Bellen neurodevelopmental syndrome | CAGCACGTTCAGCCTTCCCCTGGAGCCAGAGGGGCCGGGCTCTCACCTGGCAAAGCCCGCAGGCCTCAGGGTTCCCTCCCCCACTGTGGAGGCCTGGCCTGGCCTAATACAGCCCCTTCGTGCCCAGAGCCCTCCTCAGGCCACCCAATCACCAGGCACCATCCTCTCCTGCTGCTGTAATGGCCCGAGGCTTAAAGCCCCATGCTTTCTTGCTGCCTCAGGCCACTGGGCCAGCTCTGCCTAACTCTCTGACCAGACACTGGGCATTCCCAGGCCCCCCATGACAGACAAACCCCAAAGTCCTGGCAGGCCAGCCACGA... | CAGCACGTTCAGCCTTCCCCTGGAGCCAGAGGGGCCGGGCTCTCACCTGGCAAAGCCCGCAGGCCTCAGGGTTCCCTCCCCCACTGTGGAGGCCTGGCCTGGCCTAATACAGCCCCTTCGTGCCCAGAGCCCTCCTCAGGCCACCCAATCACCAGGCACCATCCTCTCCTGCTGCTGTAATGGCCCGAGGCTTAAAGCCCCATGCTTTCTTGCTGCCTCAGGCCACTGGGCCAGCTCTGCCTAACTCTCTGACCAGACACTGGGCATTCCCAGGCCCCCCATGACAGACAAACCCCAAAGTCCTGGCAGGCCAGCCACGA... |
Task1_train_13921 | Mutation context: Chromosome 10, Gene PRKG1 (protein kinase cGMP-dependent 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Aortic aneurysm, familial thoracic 8 | GGTTAGTTTCTGTAGTAGATGATGGAATATTATGCTTCAATGTCATCTAATAAATCATACCTCCATATAAATTATAAAGAAATTATGCCAGTGATAAGAGCAAGCATTTATTAAGCATTTGCTATGTGCAGGGCACTGTGTTAAGAATTTTACCTGCTTTATCTCACTTAATTTTGACAATCATCCAATGAAATAGGTGCTTTTATTGTATCTATTTCACTGAGGCAAAGAGAAGTTAAGCAATTTGCCCAAGGTCATAAGGCCAGTAAGGAACAGAAAAGAGAACCAGAACTAAACTTTTGGTCTATCTTTAGATGATT... | GGTTAGTTTCTGTAGTAGATGATGGAATATTATGCTTCAATGTCATCTAATAAATCATACCTCCATATAAATTATAAAGAAATTATGCCAGTGATAAGAGCAAGCATTTATTAAGCATTTGCTATGTGCAGGGCACTGTGTTAAGAATTTTACCTGCTTTATCTCACTTAATTTTGACAATCATCCAATGAAATAGGTGCTTTTATTGTATCTATTTCACTGAGGCAAAGAGAAGTTAAGCAATTTGCCCAAGGTCATAAGGCCAGTAAGGAACAGAAAAGAGAACCAGAACTAAACTTTTGGTCTATCTTTAGATGATT... |
Task1_train_13922 | An alteration has been detected in PRKG1 (protein kinase cGMP-dependent 1) on Chromosome 10. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | GGTTAGTTTCTGTAGTAGATGATGGAATATTATGCTTCAATGTCATCTAATAAATCATACCTCCATATAAATTATAAAGAAATTATGCCAGTGATAAGAGCAAGCATTTATTAAGCATTTGCTATGTGCAGGGCACTGTGTTAAGAATTTTACCTGCTTTATCTCACTTAATTTTGACAATCATCCAATGAAATAGGTGCTTTTATTGTATCTATTTCACTGAGGCAAAGAGAAGTTAAGCAATTTGCCCAAGGTCATAAGGCCAGTAAGGAACAGAAAAGAGAACCAGAACTAAACTTTTGGTCTATCTTTAGATGATT... | GGTTAGTTTCTGTAGTAGATGATGGAATATTATGCTTCAATGTCATCTAATAAATCATACCTCCATATAAATTATAAAGAAATTATGCCAGTGATAAGAGCAAGCATTTATTAAGCATTTGCTATGTGCAGGGCACTGTGTTAAGAATTTTACCTGCTTTATCTCACTTAATTTTGACAATCATCCAATGAAATAGGTGCTTTTATTGTATCTATTTCACTGAGGCAAAGAGAAGTTAAGCAATTTGCCCAAGGTCATAAGGCCAGTAAGGAACAGAAAAGAGAACCAGAACTAAACTTTTGGTCTATCTTTAGATGATT... |
Task1_train_13923 | A genomic change on Chromosome 10 affects PCDH15 (protocadherin related 15). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 23 | TTATTGGCCACATGTATGTATTCTTTTGAAAAGTGTTCATGTCCAAAAGAAAACACTTTTTGATGTTTTTATTTAATTCTTGTAATTTTAAATTCCTCATAGATGCTGGATATTAGACCTCTGTCAGATGCATAGTTTGCAAATATTTTCTCCCGTTCTGTAGGTGGTCTGTTCACTCTGTTGATAGTTTATTAAGCTGTGCAGAAGCTCTTAAGTTTAATTAGATCCCATTTGTCAATGTTTGCTTTTGTTGCAATTGCTGTTGGTTCTTTGTTACAAAATCTTTGCCTGTGCCTTTGTCCTGAATAGTATTGCCTAGG... | TTATTGGCCACATGTATGTATTCTTTTGAAAAGTGTTCATGTCCAAAAGAAAACACTTTTTGATGTTTTTATTTAATTCTTGTAATTTTAAATTCCTCATAGATGCTGGATATTAGACCTCTGTCAGATGCATAGTTTGCAAATATTTTCTCCCGTTCTGTAGGTGGTCTGTTCACTCTGTTGATAGTTTATTAAGCTGTGCAGAAGCTCTTAAGTTTAATTAGATCCCATTTGTCAATGTTTGCTTTTGTTGCAATTGCTGTTGGTTCTTTGTTACAAAATCTTTGCCTGTGCCTTTGTCCTGAATAGTATTGCCTAGG... |
Task1_train_13924 | The gene EGR2 (early growth response 2) is located on Chromosome 10, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Charcot-Marie-Tooth disease, type I | ATCAATGATTCTATCAAATAGGGGTAATCAATTGGGAAGTGAAGGTTGGAGAGAAATGAGTCCTGGGGTAATTCCTTTGACAACCCATTCATGCTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAG... | ATCAATGATTCTATCAAATAGGGGTAATCAATTGGGAAGTGAAGGTTGGAGAGAAATGAGTCCTGGGGTAATTCCTTTGACAACCCATTCATGCTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAG... |
Task1_train_13925 | Gene EGR2 (early growth response 2) on Chromosome 10 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Charcot-Marie-Tooth disease, type I | TCAATGATTCTATCAAATAGGGGTAATCAATTGGGAAGTGAAGGTTGGAGAGAAATGAGTCCTGGGGTAATTCCTTTGACAACCCATTCATGCTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGT... | TCAATGATTCTATCAAATAGGGGTAATCAATTGGGAAGTGAAGGTTGGAGAGAAATGAGTCCTGGGGTAATTCCTTTGACAACCCATTCATGCTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGT... |
Task1_train_13926 | The variant affects gene EGR2 (early growth response 2), which is on Chromosome 10. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Dejerine-Sottas disease | AATGATTCTATCAAATAGGGGTAATCAATTGGGAAGTGAAGGTTGGAGAGAAATGAGTCCTGGGGTAATTCCTTTGACAACCCATTCATGCTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTAT... | AATGATTCTATCAAATAGGGGTAATCAATTGGGAAGTGAAGGTTGGAGAGAAATGAGTCCTGGGGTAATTCCTTTGACAACCCATTCATGCTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTAT... |
Task1_train_13927 | Gene EGR2 (early growth response 2), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Charcot-Marie-Tooth disease, type I | CTATCAAATAGGGGTAATCAATTGGGAAGTGAAGGTTGGAGAGAAATGAGTCCTGGGGTAATTCCTTTGACAACCCATTCATGCTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTT... | CTATCAAATAGGGGTAATCAATTGGGAAGTGAAGGTTGGAGAGAAATGAGTCCTGGGGTAATTCCTTTGACAACCCATTCATGCTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTT... |
Task1_train_13928 | A genetic alteration is present in EGR2 (early growth response 2) on Chromosome 10. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Charcot-Marie-Tooth disease type 1D | TTGGAGAGAAATGAGTCCTGGGGTAATTCCTTTGACAACCCATTCATGCTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGG... | TTGGAGAGAAATGAGTCCTGGGGTAATTCCTTTGACAACCCATTCATGCTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGG... |
Task1_train_13929 | The gene EGR2 (early growth response 2) is located on Chromosome 10, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; ERG2-related disorder | TTGGAGAGAAATGAGTCCTGGGGTAATTCCTTTGACAACCCATTCATGCTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGG... | TTGGAGAGAAATGAGTCCTGGGGTAATTCCTTTGACAACCCATTCATGCTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGG... |
Task1_train_13930 | The gene EGR2 (early growth response 2) on Chromosome 10 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Dejerine-Sottas disease | CCCATTCATGCTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCC... | CCCATTCATGCTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCC... |
Task1_train_13931 | Here is a variant affecting EGR2 (early growth response 2) on Chromosome 10. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | CCATTCATGCTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCT... | CCATTCATGCTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCT... |
Task1_train_13932 | A sequence alteration has been identified in EGR2 (early growth response 2) on Chromosome 10. Is it disease-inducing or harmless? | Pathogenic; Charcot-Marie-Tooth disease, type I | CTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTT... | CTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTT... |
Task1_train_13933 | Here is a mutation in EGR2 (early growth response 2) on Chromosome 10. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Charcot-Marie-Tooth disease type 1D | CTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTT... | CTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTT... |
Task1_train_13934 | Located on Chromosome 10, this mutation impacts EGR2 (early growth response 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Charcot-Marie-Tooth disease, type I | CTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTT... | CTGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTT... |
Task1_train_13935 | A variant has been detected on Chromosome 10 in EGR2 (early growth response 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Charcot-Marie-Tooth disease, type I | TGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTTT... | TGTCATCAGCAGCGTCTGGGGGCATTTTCGATCTGAAGAGATGATAGTGCTTTTCAAAAAGTTTTCTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTTT... |
Task1_train_13936 | Chromosome 10 houses a mutation in gene EGR2 (early growth response 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Charcot-Marie-Tooth disease, type I | CTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTTTACACTAATGCATGGGGGAAATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGG... | CTGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTTTACACTAATGCATGGGGGAAATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGG... |
Task1_train_13937 | Consider this mutation in EGR2 (early growth response 2) on Chromosome 10. Is this a benign change or a disease-causing variant? | Pathogenic; Charcot-Marie-Tooth disease, type I | TGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTTTACACTAATGCATGGGGGAAATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGGG... | TGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTTTACACTAATGCATGGGGGAAATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGGG... |
Task1_train_13938 | A variant was discovered in gene EGR2 (early growth response 2), Chromosome 10. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Dejerine-Sottas disease | TGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTTTACACTAATGCATGGGGGAAATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGGG... | TGTGGTCATGAGACTAATCCTGGAAGCTGAAAGTCATTTCCAGCTTGACCACGCCACCACACTTTCCACAAAGCCACATCTCGTCTGAGTTCTAGACCCTGGTCAGGGTTCTGAAAGCGACTGTAAATGTGTTGTCTCCGAGTGGGCACTTGTTTGTAAGTATTTATTTTCCGGAGCCCACTCAGGAGCAGAGAGAAGCTATAGGCTGTTAGAGACAACGGAACAATGAGTCAAAACAACGCCTCCCCACTTTTACACTAATGCATGGGGGAAATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGGG... |
Task1_train_13939 | Given this variant in gene EGR2 (early growth response 2) on Chromosome 10, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Charcot-Marie-Tooth disease type 1D | AATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGGGTTGGTGTCCACAGGCTAGCAAAGAAGATCTGGAGACCATGGTTTGGTCAAAGCATTTTCACTGGTGCTTAGTGCTGTTTTTAAAAAATATTCCCACAGAGACTGAATGACTGTTTAATTCCCACCCAGTAAGTATTTCAGAAATGATTTCTGCAACAAAAATATTGTTGAAAAGTATTTATTTACACTATAGTCACAAACCATCCATTATCTGAACTTCAGTTAGTGGTTTTGCGTTAGAATAGATTTATTTTTTCACAACTATTAAGAGCT... | AATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGGGTTGGTGTCCACAGGCTAGCAAAGAAGATCTGGAGACCATGGTTTGGTCAAAGCATTTTCACTGGTGCTTAGTGCTGTTTTTAAAAAATATTCCCACAGAGACTGAATGACTGTTTAATTCCCACCCAGTAAGTATTTCAGAAATGATTTCTGCAACAAAAATATTGTTGAAAAGTATTTATTTACACTATAGTCACAAACCATCCATTATCTGAACTTCAGTTAGTGGTTTTGCGTTAGAATAGATTTATTTTTTCACAACTATTAAGAGCT... |
Task1_train_13940 | This variant lies on Chromosome 10 and affects the gene EGR2 (early growth response 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Charcot-Marie-Tooth disease type 4E | AATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGGGTTGGTGTCCACAGGCTAGCAAAGAAGATCTGGAGACCATGGTTTGGTCAAAGCATTTTCACTGGTGCTTAGTGCTGTTTTTAAAAAATATTCCCACAGAGACTGAATGACTGTTTAATTCCCACCCAGTAAGTATTTCAGAAATGATTTCTGCAACAAAAATATTGTTGAAAAGTATTTATTTACACTATAGTCACAAACCATCCATTATCTGAACTTCAGTTAGTGGTTTTGCGTTAGAATAGATTTATTTTTTCACAACTATTAAGAGCT... | AATCCCCAGAACACTAGTGTTTGATTATGAATGGAGCCTGCTTTGGGGTTGGTGTCCACAGGCTAGCAAAGAAGATCTGGAGACCATGGTTTGGTCAAAGCATTTTCACTGGTGCTTAGTGCTGTTTTTAAAAAATATTCCCACAGAGACTGAATGACTGTTTAATTCCCACCCAGTAAGTATTTCAGAAATGATTTCTGCAACAAAAATATTGTTGAAAAGTATTTATTTACACTATAGTCACAAACCATCCATTATCTGAACTTCAGTTAGTGGTTTTGCGTTAGAATAGATTTATTTTTTCACAACTATTAAGAGCT... |
Task1_train_13941 | This sequence variant lies in CTNNA3 (catenin alpha 3) on Chromosome 10. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Arrhythmogenic right ventricular dysplasia 13 | AGAGGGTCTCAGTTGGTAGGGAGCAGGGAAAAACAACAAATATATTTCAAATTATTTTGCACATTATGTTTTCTATTTATTGTCTGAAGAATACCTATAAAATATAAATTGTATATAACATACATAACAAAGTGTAGCCATTTTGGAAAACAGTATGGAGGTTCCTAAAGAAATTAGAAATAGAACTACCATTAAGAGCCAGCAATCCCTCTTCTGGGTATAACACTGAAGTAAAGGAAATCACCACTTCATAAAGATGCCTGCACTCCCATATTCACTGTATCATTATTCACAATAGTCAAGATATGAAAACAACCTAA... | AGAGGGTCTCAGTTGGTAGGGAGCAGGGAAAAACAACAAATATATTTCAAATTATTTTGCACATTATGTTTTCTATTTATTGTCTGAAGAATACCTATAAAATATAAATTGTATATAACATACATAACAAAGTGTAGCCATTTTGGAAAACAGTATGGAGGTTCCTAAAGAAATTAGAAATAGAACTACCATTAAGAGCCAGCAATCCCTCTTCTGGGTATAACACTGAAGTAAAGGAAATCACCACTTCATAAAGATGCCTGCACTCCCATATTCACTGTATCATTATTCACAATAGTCAAGATATGAAAACAACCTAA... |
Task1_train_13942 | A mutation found in DNAJC12 (DnaJ heat shock protein family (Hsp40) member C12) on Chromosome 10 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Hyperphenylalaninemia due to DNAJC12 deficiency | GAACTGAACATTCATCGTGTTTACATGTAGGGGAGTGATTGTACTCCTGTGTTTGCTTAAAACACTGTTTTTCTACACTTCAGGCTTCTCCTTTGATCAGTTTGTTAAATTATAACCATTTCCAGTTACTGGGTGATGCAATCAATGTGCAGACTCCACAGCCATCTCTTGGGTAACCAACAGAGACATCTGAATCAAACTCTATGGATCTTCATTCCCAGCAAGAAGAGAAGATGTAAAAGTTCTCCCCAAAGAGAGATTTGAAGTGACTATTTCTCAAAAGACTATAATCCACCACAAGCCATCTAACTATCTTCTTT... | GAACTGAACATTCATCGTGTTTACATGTAGGGGAGTGATTGTACTCCTGTGTTTGCTTAAAACACTGTTTTTCTACACTTCAGGCTTCTCCTTTGATCAGTTTGTTAAATTATAACCATTTCCAGTTACTGGGTGATGCAATCAATGTGCAGACTCCACAGCCATCTCTTGGGTAACCAACAGAGACATCTGAATCAAACTCTATGGATCTTCATTCCCAGCAAGAAGAGAAGATGTAAAAGTTCTCCCCAAAGAGAGATTTGAAGTGACTATTTCTCAAAAGACTATAATCCACCACAAGCCATCTAACTATCTTCTTT... |
Task1_train_13943 | Located on Chromosome 10, this mutation impacts DNAJC12 (DnaJ heat shock protein family (Hsp40) member C12). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hyperphenylalaninemia due to DNAJC12 deficiency | GTGACAGACTTAGTGTAGGGAAAAAATACCAGTTCAGTTGCATCACTCCTGGATGATAGAAATGTGGTGGATATATACACCATGGAATATTACTCAGCCCTAAAAAAGAGCAAAATAATATCTTTTGCAGCAACTTAGATGGACCTGGAGGCCATTGTTCTAAGTGAAGTAACTTAGGAATGGAAAACCAAATATTGTATGTTCTCCATTATAAATGGGAGCTAAGCTACGGATACACAAAAGCATACAGAGTGGTATAATATAATGGACTTTGGAGACTCAAAGTGGGAGGCTGGGACGGAGAGTGAAGGATAAAAAAC... | GTGACAGACTTAGTGTAGGGAAAAAATACCAGTTCAGTTGCATCACTCCTGGATGATAGAAATGTGGTGGATATATACACCATGGAATATTACTCAGCCCTAAAAAAGAGCAAAATAATATCTTTTGCAGCAACTTAGATGGACCTGGAGGCCATTGTTCTAAGTGAAGTAACTTAGGAATGGAAAACCAAATATTGTATGTTCTCCATTATAAATGGGAGCTAAGCTACGGATACACAAAAGCATACAGAGTGGTATAATATAATGGACTTTGGAGACTCAAAGTGGGAGGCTGGGACGGAGAGTGAAGGATAAAAAAC... |
Task1_train_13944 | The following genetic variant occurs in ATOH7 (atonal bHLH transcription factor 7) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Foveal hypoplasia | TCTCGGCTCACTGCAACCTCCACTTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCATATGCCACCACGCCTGGCTAATTTCGTATTTTTAGTAGAGATAGGGTTTCATCATGTTGGTCAGGCTGTTCTCAAACTTCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCCACCTGTGATTTTTTTAAGTGTAAATGTATGTATGGGCTGGGGAAGACACTTTCCCTCATTACACACCAAACGGATTTTGATAGGG... | TCTCGGCTCACTGCAACCTCCACTTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCATATGCCACCACGCCTGGCTAATTTCGTATTTTTAGTAGAGATAGGGTTTCATCATGTTGGTCAGGCTGTTCTCAAACTTCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCCACCTGTGATTTTTTTAAGTGTAAATGTATGTATGGGCTGGGGAAGACACTTTCCCTCATTACACACCAAACGGATTTTGATAGGG... |
Task1_train_13945 | Mutation context: Chromosome 10, Gene ATOH7 (atonal bHLH transcription factor 7). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Optic nerve hypoplasia | TCTCGGCTCACTGCAACCTCCACTTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCATATGCCACCACGCCTGGCTAATTTCGTATTTTTAGTAGAGATAGGGTTTCATCATGTTGGTCAGGCTGTTCTCAAACTTCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCCACCTGTGATTTTTTTAAGTGTAAATGTATGTATGGGCTGGGGAAGACACTTTCCCTCATTACACACCAAACGGATTTTGATAGGG... | TCTCGGCTCACTGCAACCTCCACTTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCATATGCCACCACGCCTGGCTAATTTCGTATTTTTAGTAGAGATAGGGTTTCATCATGTTGGTCAGGCTGTTCTCAAACTTCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCCACCTGTGATTTTTTTAAGTGTAAATGTATGTATGGGCTGGGGAAGACACTTTCCCTCATTACACACCAAACGGATTTTGATAGGG... |
Task1_train_13946 | This variant lies on Chromosome 10 and affects the gene ATOH7 (atonal bHLH transcription factor 7). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Persistent hyperplastic primary vitreous, autosomal recessive | GGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCATATGCCACCACGCCTGGCTAATTTCGTATTTTTAGTAGAGATAGGGTTTCATCATGTTGGTCAGGCTGTTCTCAAACTTCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCCACCTGTGATTTTTTTAAGTGTAAATGTATGTATGGGCTGGGGAAGACACTTTCCCTCATTACACACCAAACGGATTTTGATAGGGATAACTAAGAAAATAAAAATTGTAATAAA... | GGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCATATGCCACCACGCCTGGCTAATTTCGTATTTTTAGTAGAGATAGGGTTTCATCATGTTGGTCAGGCTGTTCTCAAACTTCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCCACCTGTGATTTTTTTAAGTGTAAATGTATGTATGGGCTGGGGAAGACACTTTCCCTCATTACACACCAAACGGATTTTGATAGGGATAACTAAGAAAATAAAAATTGTAATAAA... |
Task1_train_13947 | A variant was discovered in gene ATOH7 (atonal bHLH transcription factor 7), Chromosome 10. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Persistent hyperplastic primary vitreous, autosomal recessive | ATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCATATGCCACCACGCCTGGCTAATTTCGTATTTTTAGTAGAGATAGGGTTTCATCATGTTGGTCAGGCTGTTCTCAAACTTCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCCACCTGTGATTTTTTTAAGTGTAAATGTATGTATGGGCTGGGGAAGACACTTTCCCTCATTACACACCAAACGGATTTTGATAGGGATAACTAAGAAAATAAAAATTGTAATAAAGTCTGTAGAT... | ATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCATATGCCACCACGCCTGGCTAATTTCGTATTTTTAGTAGAGATAGGGTTTCATCATGTTGGTCAGGCTGTTCTCAAACTTCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCCACCTGTGATTTTTTTAAGTGTAAATGTATGTATGGGCTGGGGAAGACACTTTCCCTCATTACACACCAAACGGATTTTGATAGGGATAACTAAGAAAATAAAAATTGTAATAAAGTCTGTAGAT... |
Task1_train_13948 | Gene DNA2 (DNA replication helicase/nuclease 2) on Chromosome 10 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | TGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAATGGAAATCAGATAAAAACCCTCCAATGGCTTCCATTCTAATCAGAGCAGCAGCCAAGTCCTGACCAGGATGATAAGGCTCCAGGGGAACTACTGCTGCTCTTCTCCTACTGCACTTTGCTCTAGCCATCACACTAGTTCGCTGAGATACTGCACACACAGCTAGTATGTGTCAGCCACAGGGCTTTTGCCGTTTCCCCTACCTAGAACATTCCTCCTACAGACAGCTGTACGGTTCACTACTTCATTTCCTTTAAGCTTCTGCTCAA... | TGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAATGGAAATCAGATAAAAACCCTCCAATGGCTTCCATTCTAATCAGAGCAGCAGCCAAGTCCTGACCAGGATGATAAGGCTCCAGGGGAACTACTGCTGCTCTTCTCCTACTGCACTTTGCTCTAGCCATCACACTAGTTCGCTGAGATACTGCACACACAGCTAGTATGTGTCAGCCACAGGGCTTTTGCCGTTTCCCCTACCTAGAACATTCCTCCTACAGACAGCTGTACGGTTCACTACTTCATTTCCTTTAAGCTTCTGCTCAA... |
Task1_train_13949 | A genetic alteration is present in HKDC1, LOC101928994 (hexokinase domain containing 1| uncharacterized LOC101928994) on Chromosome 10. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Retinitis pigmentosa 92 | GAGAGCCCTTTGGGTAGGAAAGAATCAAGTTTGGTTCCCACATACAGCATCCCACCCTTCCCCAACCCCAATTACTTGGGTCACGTCCTTTGCATCCAGTTTTCTCGGCTTGTGTGTGGCTGTGCCAACCAATTAGTCATAAACAGCCTTGGGGGAACAGGAAGCCCTTAATGAAGCCTGACCTGGTTCCATCCTGTTTCTCAAATATGCTGAAAGCTCAATTGTCCTTTTTTGCTAATGGCTGTCTGATGATTTTCTGGTCTTTCTCTGGCCCCCGAGTCCCCGGAGCCATGGTACCATTTCAGTGTCTTGGGTCTGTT... | GAGAGCCCTTTGGGTAGGAAAGAATCAAGTTTGGTTCCCACATACAGCATCCCACCCTTCCCCAACCCCAATTACTTGGGTCACGTCCTTTGCATCCAGTTTTCTCGGCTTGTGTGTGGCTGTGCCAACCAATTAGTCATAAACAGCCTTGGGGGAACAGGAAGCCCTTAATGAAGCCTGACCTGGTTCCATCCTGTTTCTCAAATATGCTGAAAGCTCAATTGTCCTTTTTTGCTAATGGCTGTCTGATGATTTTCTGGTCTTTCTCTGGCCCCCGAGTCCCCGGAGCCATGGTACCATTTCAGTGTCTTGGGTCTGTT... |
Task1_train_13950 | Assess the clinical impact of this variant on gene HK1 (hexokinase 1), found on Chromosome 10. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Hemolytic anemia due to hexokinase deficiency | GGGAGGTTGAGGCAGCAGTGAGCTGTGATTGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAGGAAAAGAAAAAAGAGTTAAAGAGTGGAGAAAGAAAGGGTGGCCGGAGGTCCCCAATAAATGCTCAGTCCAGCTGTTGTGGAATGTCCCCCCTGCCCCCATAAGGTATTCCCGGCGTTTCCACAAGACTCTAAGGCGCTTGGTGCCAGACTCCGATGTGCGCTTCCTCCTCTCGGAGAGTGGCAGCGGCAAGGGGGCTGCCATGGTGACGGCGGTGGCCTACCGCTTGGCCGAGCAG... | GGGAGGTTGAGGCAGCAGTGAGCTGTGATTGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAGGAAAAGAAAAAAGAGTTAAAGAGTGGAGAAAGAAAGGGTGGCCGGAGGTCCCCAATAAATGCTCAGTCCAGCTGTTGTGGAATGTCCCCCCTGCCCCCATAAGGTATTCCCGGCGTTTCCACAAGACTCTAAGGCGCTTGGTGCCAGACTCCGATGTGCGCTTCCTCCTCTCGGAGAGTGGCAGCGGCAAGGGGGCTGCCATGGTGACGGCGGTGGCCTACCGCTTGGCCGAGCAG... |
Task1_train_13951 | This gene mutation involves HK1 (hexokinase 1) on Chromosome 10. Is it associated with any clinical condition, or is it benign? | Pathogenic; Hemolytic anemia due to hexokinase deficiency | GCTTGGGAAGAGGCCCCAGCAGGCTGCCTTCCAGGTGCCAGGAAGAACTTTTCATTCATTGTTAAGCCACTTTTCGCTTCTGTTGAAATTTTAAAAAACCTAGGGAGCAGCTGCTGGTGAAAAGGTTGTTTGGGGCCTGGCTTTCTCCACCCAGCCCCTCCCTTTCTTTCCATGAATGGGCTTGGGTATGAAATGCAAAGCTAGAGTGACACAGCAGCTCTCCTCCTCCTGCAGGCCCCACCTTCCCTCCTGGGAGGTCAGGCCCGCCCGTTTCCTGGCACCAGGCTCCAGCTACATTTCATAGCTACTTCATAGCTACT... | GCTTGGGAAGAGGCCCCAGCAGGCTGCCTTCCAGGTGCCAGGAAGAACTTTTCATTCATTGTTAAGCCACTTTTCGCTTCTGTTGAAATTTTAAAAAACCTAGGGAGCAGCTGCTGGTGAAAAGGTTGTTTGGGGCCTGGCTTTCTCCACCCAGCCCCTCCCTTTCTTTCCATGAATGGGCTTGGGTATGAAATGCAAAGCTAGAGTGACACAGCAGCTCTCCTCCTCCTGCAGGCCCCACCTTCCCTCCTGGGAGGTCAGGCCCGCCCGTTTCCTGGCACCAGGCTCCAGCTACATTTCATAGCTACTTCATAGCTACT... |
Task1_train_13952 | The gene NEUROG3 (neurogenin 3) on Chromosome 10 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Congenital malabsorptive diarrhea 4 | CAGGACACCCCTGGCCAATTCAAGGAGGCCTCTGTAGTTCAACTAGCAGGTAGGGTGCCCGTCCTTCACTTTCCTATTCCCAAGCAGCAGGCGAACTCTGGATCCTTACAGCTTAGACCATATTCTCTGAGGTCCTAGGGGTCCCTGAAGTCATGTAGTGGTGCTCTACTGGCACTCCTGGGACAGATTTCAGTGCTCATGCTGCACCAGTCCTATTCCACCTTGCCAGTAAGAGACATGGTGTGGCTGGAAACCTTGAACAGTTTCTTAATAAGTTTTCAATCAAGGCTGCCAGGTGATGAGGGAGGGGGCGTTGCTGG... | CAGGACACCCCTGGCCAATTCAAGGAGGCCTCTGTAGTTCAACTAGCAGGTAGGGTGCCCGTCCTTCACTTTCCTATTCCCAAGCAGCAGGCGAACTCTGGATCCTTACAGCTTAGACCATATTCTCTGAGGTCCTAGGGGTCCCTGAAGTCATGTAGTGGTGCTCTACTGGCACTCCTGGGACAGATTTCAGTGCTCATGCTGCACCAGTCCTATTCCACCTTGCCAGTAAGAGACATGGTGTGGCTGGAAACCTTGAACAGTTTCTTAATAAGTTTTCAATCAAGGCTGCCAGGTGATGAGGGAGGGGGCGTTGCTGG... |
Task1_train_13953 | This is a variant in NEUROG3 (neurogenin 3), located on Chromosome 10. Is this mutation a likely cause of disease or not? | Pathogenic; Congenital malabsorptive diarrhea 4 | GGGTGCCCGTCCTTCACTTTCCTATTCCCAAGCAGCAGGCGAACTCTGGATCCTTACAGCTTAGACCATATTCTCTGAGGTCCTAGGGGTCCCTGAAGTCATGTAGTGGTGCTCTACTGGCACTCCTGGGACAGATTTCAGTGCTCATGCTGCACCAGTCCTATTCCACCTTGCCAGTAAGAGACATGGTGTGGCTGGAAACCTTGAACAGTTTCTTAATAAGTTTTCAATCAAGGCTGCCAGGTGATGAGGGAGGGGGCGTTGCTGGATATTCCAGCCAGACGCTCCACCTTCTTTGCTCCTGGCTGCTCAGTTCAAGG... | GGGTGCCCGTCCTTCACTTTCCTATTCCCAAGCAGCAGGCGAACTCTGGATCCTTACAGCTTAGACCATATTCTCTGAGGTCCTAGGGGTCCCTGAAGTCATGTAGTGGTGCTCTACTGGCACTCCTGGGACAGATTTCAGTGCTCATGCTGCACCAGTCCTATTCCACCTTGCCAGTAAGAGACATGGTGTGGCTGGAAACCTTGAACAGTTTCTTAATAAGTTTTCAATCAAGGCTGCCAGGTGATGAGGGAGGGGGCGTTGCTGGATATTCCAGCCAGACGCTCCACCTTCTTTGCTCCTGGCTGCTCAGTTCAAGG... |
Task1_train_13954 | A variant on Chromosome 10 in gene NEUROG3 (neurogenin 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; NEUROG3-related disorder | GGGTGCCCGTCCTTCACTTTCCTATTCCCAAGCAGCAGGCGAACTCTGGATCCTTACAGCTTAGACCATATTCTCTGAGGTCCTAGGGGTCCCTGAAGTCATGTAGTGGTGCTCTACTGGCACTCCTGGGACAGATTTCAGTGCTCATGCTGCACCAGTCCTATTCCACCTTGCCAGTAAGAGACATGGTGTGGCTGGAAACCTTGAACAGTTTCTTAATAAGTTTTCAATCAAGGCTGCCAGGTGATGAGGGAGGGGGCGTTGCTGGATATTCCAGCCAGACGCTCCACCTTCTTTGCTCCTGGCTGCTCAGTTCAAGG... | GGGTGCCCGTCCTTCACTTTCCTATTCCCAAGCAGCAGGCGAACTCTGGATCCTTACAGCTTAGACCATATTCTCTGAGGTCCTAGGGGTCCCTGAAGTCATGTAGTGGTGCTCTACTGGCACTCCTGGGACAGATTTCAGTGCTCATGCTGCACCAGTCCTATTCCACCTTGCCAGTAAGAGACATGGTGTGGCTGGAAACCTTGAACAGTTTCTTAATAAGTTTTCAATCAAGGCTGCCAGGTGATGAGGGAGGGGGCGTTGCTGGATATTCCAGCCAGACGCTCCACCTTCTTTGCTCCTGGCTGCTCAGTTCAAGG... |
Task1_train_13955 | The gene NEUROG3 (neurogenin 3) is located on Chromosome 10, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Congenital malabsorptive diarrhea 4 | CAGGCGAACTCTGGATCCTTACAGCTTAGACCATATTCTCTGAGGTCCTAGGGGTCCCTGAAGTCATGTAGTGGTGCTCTACTGGCACTCCTGGGACAGATTTCAGTGCTCATGCTGCACCAGTCCTATTCCACCTTGCCAGTAAGAGACATGGTGTGGCTGGAAACCTTGAACAGTTTCTTAATAAGTTTTCAATCAAGGCTGCCAGGTGATGAGGGAGGGGGCGTTGCTGGATATTCCAGCCAGACGCTCCACCTTCTTTGCTCCTGGCTGCTCAGTTCAAGGAGTTCACGACACAGCCACCTCAGTGCCTGGGGAGT... | CAGGCGAACTCTGGATCCTTACAGCTTAGACCATATTCTCTGAGGTCCTAGGGGTCCCTGAAGTCATGTAGTGGTGCTCTACTGGCACTCCTGGGACAGATTTCAGTGCTCATGCTGCACCAGTCCTATTCCACCTTGCCAGTAAGAGACATGGTGTGGCTGGAAACCTTGAACAGTTTCTTAATAAGTTTTCAATCAAGGCTGCCAGGTGATGAGGGAGGGGGCGTTGCTGGATATTCCAGCCAGACGCTCCACCTTCTTTGCTCCTGGCTGCTCAGTTCAAGGAGTTCACGACACAGCCACCTCAGTGCCTGGGGAGT... |
Task1_train_13956 | Assess the clinical impact of this variant on gene COL13A1 (collagen type XIII alpha 1 chain), found on Chromosome 10. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Congenital myasthenic syndrome 19 | GCTCTGCGTCACTTCTGTCACTGTAGATTAGGTGTGTCTTTTGTCTCTTCTAGAGCTTCATGTAAATGGAATTAAACAGTATCTGTGCCTGGATGCTTCTGCTCAGCAGAATGTGTTTGAGATGCACCCTTGTCATCAGCACTTGGTTCTTTTTCCCTGCTGAGTAGTATTTCATTGTATGGATGTACCATGCATTCCCCTGTTGATGGGCATTTGGGTTGTTTTCTGGAGATATTTTTAAGTCATTATTGGGGAAGGTCAGACTTAGCTTCTTGGAGCCCAAAGGGCGACCAGAGATGCCCTAGAGAGAAGGAGAGGGT... | GCTCTGCGTCACTTCTGTCACTGTAGATTAGGTGTGTCTTTTGTCTCTTCTAGAGCTTCATGTAAATGGAATTAAACAGTATCTGTGCCTGGATGCTTCTGCTCAGCAGAATGTGTTTGAGATGCACCCTTGTCATCAGCACTTGGTTCTTTTTCCCTGCTGAGTAGTATTTCATTGTATGGATGTACCATGCATTCCCCTGTTGATGGGCATTTGGGTTGTTTTCTGGAGATATTTTTAAGTCATTATTGGGGAAGGTCAGACTTAGCTTCTTGGAGCCCAAAGGGCGACCAGAGATGCCCTAGAGAGAAGGAGAGGGT... |
Task1_train_13957 | A genomic change on Chromosome 10 affects NODAL (nodal growth differentiation factor). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Heart, malformation of | TTAAACAGATTCAAAAAATTACATGTATCTGGGTAGAGTAGTAGCTATTTTTTTTTTTAAGTGGTAGCTAATTTTTATGTTCTCCTATTATTCTAGTCTAAAGGGAATACCATTTTTTTTTTCTTTTTTGAGATGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGCATCCTCAACCTCCTGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTACATGCCACCATGCCTGGCTAATTTTTGTATTTTTTGTAGAAATAGGGTTTCGGCATGTTGCCCAG... | TTAAACAGATTCAAAAAATTACATGTATCTGGGTAGAGTAGTAGCTATTTTTTTTTTTAAGTGGTAGCTAATTTTTATGTTCTCCTATTATTCTAGTCTAAAGGGAATACCATTTTTTTTTTCTTTTTTGAGATGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGCATCCTCAACCTCCTGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTACATGCCACCATGCCTGGCTAATTTTTGTATTTTTTGTAGAAATAGGGTTTCGGCATGTTGCCCAG... |
Task1_train_13958 | Assess the clinical impact of this variant on gene PRF1 (perforin 1), found on Chromosome 10. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Familial hemophagocytic lymphohistiocytosis 2 | GCTTTTGGACCTTGGCCACCCCTCCTGTCCCACCTGGGGATTTAGGGTTAATGTAATGTCACTGCTTGGCATTTGGGCCTATGAGTCCCATACAAACTTCAAAGAACTTAATTTATAGGGAGTTTCAAAGAGAGTCGGGAGGGCTGTGCCCGCTCCTCTGGACCCTCTGACAATGACCCTGCACAGCCTGCACAGCCGTGTCCAGGAAGCTGCCTGGAATCTTGCCATCCACTCCACGGGACTGTGTGCTGAGGCCTATGTCCCGGGCACATGAAACAAAGACCATTTCATCTTATGTTGGAAGCCGAGACTCTGGGTTT... | GCTTTTGGACCTTGGCCACCCCTCCTGTCCCACCTGGGGATTTAGGGTTAATGTAATGTCACTGCTTGGCATTTGGGCCTATGAGTCCCATACAAACTTCAAAGAACTTAATTTATAGGGAGTTTCAAAGAGAGTCGGGAGGGCTGTGCCCGCTCCTCTGGACCCTCTGACAATGACCCTGCACAGCCTGCACAGCCGTGTCCAGGAAGCTGCCTGGAATCTTGCCATCCACTCCACGGGACTGTGTGCTGAGGCCTATGTCCCGGGCACATGAAACAAAGACCATTTCATCTTATGTTGGAAGCCGAGACTCTGGGTTT... |
Task1_train_13959 | The gene PRF1 (perforin 1) on Chromosome 10 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Aplastic anemia | GTCACTGCTTGGCATTTGGGCCTATGAGTCCCATACAAACTTCAAAGAACTTAATTTATAGGGAGTTTCAAAGAGAGTCGGGAGGGCTGTGCCCGCTCCTCTGGACCCTCTGACAATGACCCTGCACAGCCTGCACAGCCGTGTCCAGGAAGCTGCCTGGAATCTTGCCATCCACTCCACGGGACTGTGTGCTGAGGCCTATGTCCCGGGCACATGAAACAAAGACCATTTCATCTTATGTTGGAAGCCGAGACTCTGGGTTTTTTTGCATCCAAGGCCTAGGAGGCCCACAGAGCCCACCTTGTTGGAACCAATGCTCC... | GTCACTGCTTGGCATTTGGGCCTATGAGTCCCATACAAACTTCAAAGAACTTAATTTATAGGGAGTTTCAAAGAGAGTCGGGAGGGCTGTGCCCGCTCCTCTGGACCCTCTGACAATGACCCTGCACAGCCTGCACAGCCGTGTCCAGGAAGCTGCCTGGAATCTTGCCATCCACTCCACGGGACTGTGTGCTGAGGCCTATGTCCCGGGCACATGAAACAAAGACCATTTCATCTTATGTTGGAAGCCGAGACTCTGGGTTTTTTTGCATCCAAGGCCTAGGAGGCCCACAGAGCCCACCTTGTTGGAACCAATGCTCC... |
Task1_train_13960 | This alteration occurs within gene PRF1 (perforin 1) located on Chromosome 10. Is it associated with a disease or is it a benign variant? | Pathogenic; Familial hemophagocytic lymphohistiocytosis 2 | GTCACTGCTTGGCATTTGGGCCTATGAGTCCCATACAAACTTCAAAGAACTTAATTTATAGGGAGTTTCAAAGAGAGTCGGGAGGGCTGTGCCCGCTCCTCTGGACCCTCTGACAATGACCCTGCACAGCCTGCACAGCCGTGTCCAGGAAGCTGCCTGGAATCTTGCCATCCACTCCACGGGACTGTGTGCTGAGGCCTATGTCCCGGGCACATGAAACAAAGACCATTTCATCTTATGTTGGAAGCCGAGACTCTGGGTTTTTTTGCATCCAAGGCCTAGGAGGCCCACAGAGCCCACCTTGTTGGAACCAATGCTCC... | GTCACTGCTTGGCATTTGGGCCTATGAGTCCCATACAAACTTCAAAGAACTTAATTTATAGGGAGTTTCAAAGAGAGTCGGGAGGGCTGTGCCCGCTCCTCTGGACCCTCTGACAATGACCCTGCACAGCCTGCACAGCCGTGTCCAGGAAGCTGCCTGGAATCTTGCCATCCACTCCACGGGACTGTGTGCTGAGGCCTATGTCCCGGGCACATGAAACAAAGACCATTTCATCTTATGTTGGAAGCCGAGACTCTGGGTTTTTTTGCATCCAAGGCCTAGGAGGCCCACAGAGCCCACCTTGTTGGAACCAATGCTCC... |
Task1_train_13961 | The gene PRF1 (perforin 1) is located on Chromosome 10, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Familial hemophagocytic lymphohistiocytosis | GTCACTGCTTGGCATTTGGGCCTATGAGTCCCATACAAACTTCAAAGAACTTAATTTATAGGGAGTTTCAAAGAGAGTCGGGAGGGCTGTGCCCGCTCCTCTGGACCCTCTGACAATGACCCTGCACAGCCTGCACAGCCGTGTCCAGGAAGCTGCCTGGAATCTTGCCATCCACTCCACGGGACTGTGTGCTGAGGCCTATGTCCCGGGCACATGAAACAAAGACCATTTCATCTTATGTTGGAAGCCGAGACTCTGGGTTTTTTTGCATCCAAGGCCTAGGAGGCCCACAGAGCCCACCTTGTTGGAACCAATGCTCC... | GTCACTGCTTGGCATTTGGGCCTATGAGTCCCATACAAACTTCAAAGAACTTAATTTATAGGGAGTTTCAAAGAGAGTCGGGAGGGCTGTGCCCGCTCCTCTGGACCCTCTGACAATGACCCTGCACAGCCTGCACAGCCGTGTCCAGGAAGCTGCCTGGAATCTTGCCATCCACTCCACGGGACTGTGTGCTGAGGCCTATGTCCCGGGCACATGAAACAAAGACCATTTCATCTTATGTTGGAAGCCGAGACTCTGGGTTTTTTTGCATCCAAGGCCTAGGAGGCCCACAGAGCCCACCTTGTTGGAACCAATGCTCC... |
Task1_train_13962 | The following genetic variant occurs in PRF1 (perforin 1) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not specified | TTCAAAGAGAGTCGGGAGGGCTGTGCCCGCTCCTCTGGACCCTCTGACAATGACCCTGCACAGCCTGCACAGCCGTGTCCAGGAAGCTGCCTGGAATCTTGCCATCCACTCCACGGGACTGTGTGCTGAGGCCTATGTCCCGGGCACATGAAACAAAGACCATTTCATCTTATGTTGGAAGCCGAGACTCTGGGTTTTTTTGCATCCAAGGCCTAGGAGGCCCACAGAGCCCACCTTGTTGGAACCAATGCTCCTTTGCTTGAAATCGTGAGACAGGGGAGAGCTTTTCAGCTTTGTGCAAAATGGTTCTGTTGAAGGTA... | TTCAAAGAGAGTCGGGAGGGCTGTGCCCGCTCCTCTGGACCCTCTGACAATGACCCTGCACAGCCTGCACAGCCGTGTCCAGGAAGCTGCCTGGAATCTTGCCATCCACTCCACGGGACTGTGTGCTGAGGCCTATGTCCCGGGCACATGAAACAAAGACCATTTCATCTTATGTTGGAAGCCGAGACTCTGGGTTTTTTTGCATCCAAGGCCTAGGAGGCCCACAGAGCCCACCTTGTTGGAACCAATGCTCCTTTGCTTGAAATCGTGAGACAGGGGAGAGCTTTTCAGCTTTGTGCAAAATGGTTCTGTTGAAGGTA... |
Task1_train_13963 | Mutation context: Chromosome 10, Gene PRF1 (perforin 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Familial hemophagocytic lymphohistiocytosis 2 | ATGAAACAAAGACCATTTCATCTTATGTTGGAAGCCGAGACTCTGGGTTTTTTTGCATCCAAGGCCTAGGAGGCCCACAGAGCCCACCTTGTTGGAACCAATGCTCCTTTGCTTGAAATCGTGAGACAGGGGAGAGCTTTTCAGCTTTGTGCAAAATGGTTCTGTTGAAGGTAGAATTTTCAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAAT... | ATGAAACAAAGACCATTTCATCTTATGTTGGAAGCCGAGACTCTGGGTTTTTTTGCATCCAAGGCCTAGGAGGCCCACAGAGCCCACCTTGTTGGAACCAATGCTCCTTTGCTTGAAATCGTGAGACAGGGGAGAGCTTTTCAGCTTTGTGCAAAATGGTTCTGTTGAAGGTAGAATTTTCAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAAT... |
Task1_train_13964 | This mutation occurs in PRF1 (perforin 1) on Chromosome 10. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Familial hemophagocytic lymphohistiocytosis 2 | AGGAGGCCCACAGAGCCCACCTTGTTGGAACCAATGCTCCTTTGCTTGAAATCGTGAGACAGGGGAGAGCTTTTCAGCTTTGTGCAAAATGGTTCTGTTGAAGGTAGAATTTTCAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCA... | AGGAGGCCCACAGAGCCCACCTTGTTGGAACCAATGCTCCTTTGCTTGAAATCGTGAGACAGGGGAGAGCTTTTCAGCTTTGTGCAAAATGGTTCTGTTGAAGGTAGAATTTTCAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCA... |
Task1_train_13965 | Consider a variant on Chromosome 10 in gene PRF1 (perforin 1). Determine its clinical classification and disease relevance. | Pathogenic; Familial hemophagocytic lymphohistiocytosis | AGGAGGCCCACAGAGCCCACCTTGTTGGAACCAATGCTCCTTTGCTTGAAATCGTGAGACAGGGGAGAGCTTTTCAGCTTTGTGCAAAATGGTTCTGTTGAAGGTAGAATTTTCAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCA... | AGGAGGCCCACAGAGCCCACCTTGTTGGAACCAATGCTCCTTTGCTTGAAATCGTGAGACAGGGGAGAGCTTTTCAGCTTTGTGCAAAATGGTTCTGTTGAAGGTAGAATTTTCAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCA... |
Task1_train_13966 | Given this variant in gene PRF1 (perforin 1) on Chromosome 10, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Aplastic anemia | CAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGC... | CAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGC... |
Task1_train_13967 | Gene PRF1 (perforin 1), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Familial hemophagocytic lymphohistiocytosis | CAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGC... | CAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGC... |
Task1_train_13968 | This gene mutation involves PRF1 (perforin 1) on Chromosome 10. Is it associated with any clinical condition, or is it benign? | Pathogenic; Familial hemophagocytic lymphohistiocytosis 2 | CAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGC... | CAAAGCAGATAGCCCTGGATCAATTATGGCCCACATGCATGTTCTCTTTGGCTTGCACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGC... |
Task1_train_13969 | The gene PRF1 (perforin 1), on Chromosome 10, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Familial hemophagocytic lymphohistiocytosis 2 | CACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCA... | CACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCA... |
Task1_train_13970 | This is a variant in PRF1 (perforin 1), located on Chromosome 10. Is this mutation a likely cause of disease or not? | Pathogenic; Familial hemophagocytic lymphohistiocytosis | CACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCA... | CACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCA... |
Task1_train_13971 | This alteration in PRF1 (perforin 1) on Chromosome 10 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Aplastic anemia | CACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCA... | CACCATGTTTGCCCACAAAGGTGTATTTTCACAAAATGAAATTAACTGCCACAGTTAGAAGTCAAATTGTGGTTTGACCTTAAATAAGTAGAAGACCTGGCAGCACGGGGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCA... |
Task1_train_13972 | An alteration has been detected in PRF1 (perforin 1) on Chromosome 10. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Autoinflammatory syndrome | GGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTT... | GGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTT... |
Task1_train_13973 | A variant on Chromosome 10 in gene PRF1 (perforin 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Inborn genetic diseases | GGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTT... | GGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTT... |
Task1_train_13974 | Chromosome 10 houses a mutation in gene PRF1 (perforin 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Aplastic anemia | GGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTT... | GGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTT... |
Task1_train_13975 | Mutation context: Chromosome 10, Gene PRF1 (perforin 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Familial hemophagocytic lymphohistiocytosis | GGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTT... | GGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTT... |
Task1_train_13976 | This variant affects gene PRF1 (perforin 1) located on Chromosome 10. Evaluate its biological effect and specify any disease association. | Pathogenic; Familial hemophagocytic lymphohistiocytosis type 1 | GGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTT... | GGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTT... |
Task1_train_13977 | This sequence variant lies in PRF1 (perforin 1) on Chromosome 10. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Familial hemophagocytic lymphohistiocytosis 2 | GGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTT... | GGCTCATGTTCCTGCATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTT... |
Task1_train_13978 | A variant was discovered on Chromosome 10, affecting PRF1 (perforin 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Familial hemophagocytic lymphohistiocytosis 2 | ATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAAC... | ATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAAC... |
Task1_train_13979 | This mutation occurs in PRF1 (perforin 1) on Chromosome 10. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Aplastic anemia | ATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAAC... | ATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAAC... |
Task1_train_13980 | This mutation occurs in PRF1 (perforin 1) on Chromosome 10. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Familial hemophagocytic lymphohistiocytosis | ATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAAC... | ATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAAC... |
Task1_train_13981 | With a mutation on Chromosome 10 in gene PRF1 (perforin 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Familial hemophagocytic lymphohistiocytosis 2 | ATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAAC... | ATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAAC... |
Task1_train_13982 | This mutation is located in gene PRF1 (perforin 1) on Chromosome 10. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Aplastic anemia | ATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAAC... | ATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAAC... |
Task1_train_13983 | Given this variant in gene PRF1 (perforin 1) on Chromosome 10, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Lymphoma, non-Hodgkin, familial | ATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAAC... | ATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAAC... |
Task1_train_13984 | Here’s a variant in PRF1 (perforin 1) located on Chromosome 10. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Familial hemophagocytic lymphohistiocytosis 2 | ATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAAC... | ATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAAC... |
Task1_train_13985 | The gene PRF1 (perforin 1) on Chromosome 10 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Aplastic anemia | ATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAAC... | ATGAAATGTTTGGCTGGAGCAGCACTGCAGCCCCTCCCCCCGCACAAAAGATATGCACTCTTTAGTTGACCACAGTCCTTACCATGCCCTATTGTCTTCCAGCTGGGAGCTGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAAC... |
Task1_train_13986 | This variant affects the gene PRF1 (perforin 1) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Familial hemophagocytic lymphohistiocytosis 2 | TGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGT... | TGAATGCCTGTTGCCATTTATCATGTTTATGCTGCTGCTTTCTTGAGTCAGAGAGTTATGAGGAAGGTAAAATATTTTGGGTCCCCACGTTTCTGACAAAAGTGGAAAAGCAGTTTATATACATTACCTGCCAGCCTGTTTTCACTGGGTTGCCAATGTAGAAGTTTATCTCTGGGGTGTGTTTGGTCCCATCTTTTCCTCTGCCACAACACCACCATGATGATCACCATAACATCATATTTATTGGCCCTTTATCAAGCTATGTACATGGTGAGACAGGTCAGGACAGGCCTCCATTTGTCTCAGGGGCAAAGCATTGT... |
Task1_train_13987 | A variant on Chromosome 10 in gene PRF1 (perforin 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Familial hemophagocytic lymphohistiocytosis 2 | GGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCG... | GGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCG... |
Task1_train_13988 | A variant affecting Chromosome 10, within the gene PRF1 (perforin 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Lymphoma, non-Hodgkin, familial | GGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCG... | GGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCG... |
Task1_train_13989 | A change on Chromosome 10 affects gene PRF1 (perforin 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Aplastic anemia | GGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCG... | GGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCG... |
Task1_train_13990 | Assess the clinical impact of this variant on gene PRF1 (perforin 1), found on Chromosome 10. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Inborn genetic diseases | GGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCG... | GGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCG... |
Task1_train_13991 | The following genetic variant occurs in PRF1 (perforin 1) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Familial hemophagocytic lymphohistiocytosis | GGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCG... | GGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCG... |
Task1_train_13992 | Given this context: Chromosome 10, gene PRF1 (perforin 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Familial hemophagocytic lymphohistiocytosis 2 | GGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCG... | GGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCG... |
Task1_train_13993 | Chromosome 10 houses a mutation in gene PRF1 (perforin 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Aplastic anemia | GGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCG... | GGCATCCGTGGCAGTGAACCAGTCCCCCCACAGGCCCCATGCTTGGATGAAGGTCACCTCCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCG... |
Task1_train_13994 | A variant has been detected on Chromosome 10 in PRF1 (perforin 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Aplastic anemia | CCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTA... | CCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTA... |
Task1_train_13995 | The following genetic variant occurs in PRF1 (perforin 1) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Familial hemophagocytic lymphohistiocytosis 2 | CCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTA... | CCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTA... |
Task1_train_13996 | Assess the clinical impact of this variant on gene PRF1 (perforin 1), found on Chromosome 10. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Familial hemophagocytic lymphohistiocytosis | CCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTA... | CCAGCTGGGCCAGGCCCCTCTGCCGAGGGCAGCAGTCCTGGGTGGTGACCGCTGAGCCATGGCACACACACTGGCATGGGTCTCGGGGGCTCTTCTGCCGCCCTGGTGGGCACGGCCGGCTGCAGTCCCTCCAGCGAGCCCTGTCCGTCAGGTACTGACTCAGGGCCCTCCTCAGTGCCTCCCGCCGCGGGTCCTGGCTGTCCAGCAGCACGTGCAGGGGTTCCAGGGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTA... |
Task1_train_13997 | This mutation occurs in PRF1 (perforin 1) on Chromosome 10. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Familial hemophagocytic lymphohistiocytosis | GGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGA... | GGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGA... |
Task1_train_13998 | Here is a variant affecting PRF1 (perforin 1) on Chromosome 10. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Aplastic anemia | GGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGA... | GGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGA... |
Task1_train_13999 | This is a variant in PRF1 (perforin 1), located on Chromosome 10. Is this mutation a likely cause of disease or not? | Pathogenic; Lymphoma, non-Hodgkin, familial | GGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGA... | GGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGA... |
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