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_5300 | The gene BMPR2 (bone morphogenetic protein receptor type 2) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Primary pulmonary hypertension | TGTATTTTTAGTAGAAACAGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAATGCTGACATCAGTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAACATTGGATTTTTCAGTTGTATTACCAGTTTTATGTTCAAAACTCCTTTAAGAGGTTCTATTTTTATGCATTGTCTTTACTTAACCCAATCTCTTCATTTATAAATATGTAAATATTATGTATTTAGAAAATATATAATGGTAAAGTTTGAAAGGATGCCTGAGTAACCAAGAACAGTGGTTTCCTGGGG... | TGTATTTTTAGTAGAAACAGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAATGCTGACATCAGTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAACATTGGATTTTTCAGTTGTATTACCAGTTTTATGTTCAAAACTCCTTTAAGAGGTTCTATTTTTATGCATTGTCTTTACTTAACCCAATCTCTTCATTTATAAATATGTAAATATTATGTATTTAGAAAATATATAATGGTAAAGTTTGAAAGGATGCCTGAGTAACCAAGAACAGTGGTTTCCTGGGG... |
Task1_train_5301 | Here’s a variant in BMPR2 (bone morphogenetic protein receptor type 2) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Pulmonary arterial hypertension | ATTTTTAGTAGAAACAGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAATGCTGACATCAGTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAACATTGGATTTTTCAGTTGTATTACCAGTTTTATGTTCAAAACTCCTTTAAGAGGTTCTATTTTTATGCATTGTCTTTACTTAACCCAATCTCTTCATTTATAAATATGTAAATATTATGTATTTAGAAAATATATAATGGTAAAGTTTGAAAGGATGCCTGAGTAACCAAGAACAGTGGTTTCCTGGGGTGG... | ATTTTTAGTAGAAACAGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAATGCTGACATCAGTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAACATTGGATTTTTCAGTTGTATTACCAGTTTTATGTTCAAAACTCCTTTAAGAGGTTCTATTTTTATGCATTGTCTTTACTTAACCCAATCTCTTCATTTATAAATATGTAAATATTATGTATTTAGAAAATATATAATGGTAAAGTTTGAAAGGATGCCTGAGTAACCAAGAACAGTGGTTTCCTGGGGTGG... |
Task1_train_5302 | This mutation is located in gene BMPR2 (bone morphogenetic protein receptor type 2) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Pulmonary hypertension, primary, 1 | ATTTTTAGTAGAAACAGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAATGCTGACATCAGTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAACATTGGATTTTTCAGTTGTATTACCAGTTTTATGTTCAAAACTCCTTTAAGAGGTTCTATTTTTATGCATTGTCTTTACTTAACCCAATCTCTTCATTTATAAATATGTAAATATTATGTATTTAGAAAATATATAATGGTAAAGTTTGAAAGGATGCCTGAGTAACCAAGAACAGTGGTTTCCTGGGGTGG... | ATTTTTAGTAGAAACAGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAATGCTGACATCAGTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAACATTGGATTTTTCAGTTGTATTACCAGTTTTATGTTCAAAACTCCTTTAAGAGGTTCTATTTTTATGCATTGTCTTTACTTAACCCAATCTCTTCATTTATAAATATGTAAATATTATGTATTTAGAAAATATATAATGGTAAAGTTTGAAAGGATGCCTGAGTAACCAAGAACAGTGGTTTCCTGGGGTGG... |
Task1_train_5303 | This variant affects gene BMPR2 (bone morphogenetic protein receptor type 2) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Pulmonary hypertension, primary, dexfenfluramine-associated | CTCGAATGCTGACATCAGTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAACATTGGATTTTTCAGTTGTATTACCAGTTTTATGTTCAAAACTCCTTTAAGAGGTTCTATTTTTATGCATTGTCTTTACTTAACCCAATCTCTTCATTTATAAATATGTAAATATTATGTATTTAGAAAATATATAATGGTAAAGTTTGAAAGGATGCCTGAGTAACCAAGAACAGTGGTTTCCTGGGGTGGAAGGAGGGCAACATCGGAATAGACAAATGGGAACAAGGGTATG... | CTCGAATGCTGACATCAGTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAACATTGGATTTTTCAGTTGTATTACCAGTTTTATGTTCAAAACTCCTTTAAGAGGTTCTATTTTTATGCATTGTCTTTACTTAACCCAATCTCTTCATTTATAAATATGTAAATATTATGTATTTAGAAAATATATAATGGTAAAGTTTGAAAGGATGCCTGAGTAACCAAGAACAGTGGTTTCCTGGGGTGGAAGGAGGGCAACATCGGAATAGACAAATGGGAACAAGGGTATG... |
Task1_train_5304 | A mutation found in BMPR2 (bone morphogenetic protein receptor type 2) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Pulmonary hypertension, primary, 1 | TCGAATGCTGACATCAGTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAACATTGGATTTTTCAGTTGTATTACCAGTTTTATGTTCAAAACTCCTTTAAGAGGTTCTATTTTTATGCATTGTCTTTACTTAACCCAATCTCTTCATTTATAAATATGTAAATATTATGTATTTAGAAAATATATAATGGTAAAGTTTGAAAGGATGCCTGAGTAACCAAGAACAGTGGTTTCCTGGGGTGGAAGGAGGGCAACATCGGAATAGACAAATGGGAACAAGGGTATGA... | TCGAATGCTGACATCAGTTGATCTGCCTGCCTTGGCCTCCCAAAGTGCCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAACATTGGATTTTTCAGTTGTATTACCAGTTTTATGTTCAAAACTCCTTTAAGAGGTTCTATTTTTATGCATTGTCTTTACTTAACCCAATCTCTTCATTTATAAATATGTAAATATTATGTATTTAGAAAATATATAATGGTAAAGTTTGAAAGGATGCCTGAGTAACCAAGAACAGTGGTTTCCTGGGGTGGAAGGAGGGCAACATCGGAATAGACAAATGGGAACAAGGGTATGA... |
Task1_train_5305 | Gene BMPR2 (bone morphogenetic protein receptor type 2), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Pulmonary hypertension, primary, 1 | TTTCTTATAATGTTATACATGCCCGTTCTATGAATTTTGGAATATATAGAGAACTACAAAGAAAACAAAAGTCTACAATAATATACTCTTTAAAAATATTTTTACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCT... | TTTCTTATAATGTTATACATGCCCGTTCTATGAATTTTGGAATATATAGAGAACTACAAAGAAAACAAAAGTCTACAATAATATACTCTTTAAAAATATTTTTACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCT... |
Task1_train_5306 | A variant has been detected on Chromosome 2 in BMPR2 (bone morphogenetic protein receptor type 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Pulmonary hypertension, primary, 1 | TCTTATAATGTTATACATGCCCGTTCTATGAATTTTGGAATATATAGAGAACTACAAAGAAAACAAAAGTCTACAATAATATACTCTTTAAAAATATTTTTACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTG... | TCTTATAATGTTATACATGCCCGTTCTATGAATTTTGGAATATATAGAGAACTACAAAGAAAACAAAAGTCTACAATAATATACTCTTTAAAAATATTTTTACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTG... |
Task1_train_5307 | Here is a variant affecting BMPR2 (bone morphogenetic protein receptor type 2) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Pulmonary hypertension, primary, 1 | TCTTATAATGTTATACATGCCCGTTCTATGAATTTTGGAATATATAGAGAACTACAAAGAAAACAAAAGTCTACAATAATATACTCTTTAAAAATATTTTTACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTG... | TCTTATAATGTTATACATGCCCGTTCTATGAATTTTGGAATATATAGAGAACTACAAAGAAAACAAAAGTCTACAATAATATACTCTTTAAAAATATTTTTACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTG... |
Task1_train_5308 | A variant has been detected on Chromosome 2 in BMPR2 (bone morphogenetic protein receptor type 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Pulmonary arterial hypertension | CTTATAATGTTATACATGCCCGTTCTATGAATTTTGGAATATATAGAGAACTACAAAGAAAACAAAAGTCTACAATAATATACTCTTTAAAAATATTTTTACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGC... | CTTATAATGTTATACATGCCCGTTCTATGAATTTTGGAATATATAGAGAACTACAAAGAAAACAAAAGTCTACAATAATATACTCTTTAAAAATATTTTTACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGC... |
Task1_train_5309 | This variant lies on Chromosome 2 and affects the gene BMPR2 (bone morphogenetic protein receptor type 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Pulmonary hypertension, primary, 1 | CTTATAATGTTATACATGCCCGTTCTATGAATTTTGGAATATATAGAGAACTACAAAGAAAACAAAAGTCTACAATAATATACTCTTTAAAAATATTTTTACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGC... | CTTATAATGTTATACATGCCCGTTCTATGAATTTTGGAATATATAGAGAACTACAAAGAAAACAAAAGTCTACAATAATATACTCTTTAAAAATATTTTTACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGC... |
Task1_train_5310 | The gene BMPR2 (bone morphogenetic protein receptor type 2) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Pulmonary hypertension, primary, 1 | AATTTTGGAATATATAGAGAACTACAAAGAAAACAAAAGTCTACAATAATATACTCTTTAAAAATATTTTTACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCC... | AATTTTGGAATATATAGAGAACTACAAAGAAAACAAAAGTCTACAATAATATACTCTTTAAAAATATTTTTACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCC... |
Task1_train_5311 | This alteration occurs within gene BMPR2 (bone morphogenetic protein receptor type 2) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; Pulmonary arterial hypertension | AATTTTGGAATATATAGAGAACTACAAAGAAAACAAAAGTCTACAATAATATACTCTTTAAAAATATTTTTACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCC... | AATTTTGGAATATATAGAGAACTACAAAGAAAACAAAAGTCTACAATAATATACTCTTTAAAAATATTTTTACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCC... |
Task1_train_5312 | A variant was discovered in gene BMPR2 (bone morphogenetic protein receptor type 2), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Pulmonary hypertension, primary, 1 | AATTTTGGAATATATAGAGAACTACAAAGAAAACAAAAGTCTACAATAATATACTCTTTAAAAATATTTTTACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCC... | AATTTTGGAATATATAGAGAACTACAAAGAAAACAAAAGTCTACAATAATATACTCTTTAAAAATATTTTTACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCC... |
Task1_train_5313 | A variant on Chromosome 2 in gene BMPR2 (bone morphogenetic protein receptor type 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Pulmonary arterial hypertension | AATTTTGGAATATATAGAGAACTACAAAGAAAACAAAAGTCTACAATAATATACTCTTTAAAAATATTTTTACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCC... | AATTTTGGAATATATAGAGAACTACAAAGAAAACAAAAGTCTACAATAATATACTCTTTAAAAATATTTTTACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCC... |
Task1_train_5314 | Gene BMPR2 (bone morphogenetic protein receptor type 2) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Primary pulmonary hypertension | AGAGAACTACAAAGAAAACAAAAGTCTACAATAATATACTCTTTAAAAATATTTTTACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGA... | AGAGAACTACAAAGAAAACAAAAGTCTACAATAATATACTCTTTAAAAATATTTTTACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGA... |
Task1_train_5315 | A variant has been detected on Chromosome 2 in BMPR2 (bone morphogenetic protein receptor type 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Primary pulmonary hypertension | GAGAACTACAAAGAAAACAAAAGTCTACAATAATATACTCTTTAAAAATATTTTTACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAG... | GAGAACTACAAAGAAAACAAAAGTCTACAATAATATACTCTTTAAAAATATTTTTACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAG... |
Task1_train_5316 | Gene BMPR2 (bone morphogenetic protein receptor type 2) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Pulmonary hypertension, primary, 1 | GAGAACTACAAAGAAAACAAAAGTCTACAATAATATACTCTTTAAAAATATTTTTACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAG... | GAGAACTACAAAGAAAACAAAAGTCTACAATAATATACTCTTTAAAAATATTTTTACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAG... |
Task1_train_5317 | This gene mutation involves BMPR2 (bone morphogenetic protein receptor type 2) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Pulmonary arterial hypertension associated with congenital heart disease | CAAAGAAAACAAAAGTCTACAATAATATACTCTTTAAAAATATTTTTACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC... | CAAAGAAAACAAAAGTCTACAATAATATACTCTTTAAAAATATTTTTACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC... |
Task1_train_5318 | Assess the clinical impact of this variant on gene BMPR2 (bone morphogenetic protein receptor type 2), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Pulmonary hypertension, primary, 1 | TAAAAATATTTTTACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAATTAGGAACATACTGT... | TAAAAATATTTTTACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAATTAGGAACATACTGT... |
Task1_train_5319 | This sequence change occurs on Chromosome 2, altering BMPR2 (bone morphogenetic protein receptor type 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Pulmonary arterial hypertension | TTTTTACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAATTAGGAACATACTGTATAAACAA... | TTTTTACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAATTAGGAACATACTGTATAAACAA... |
Task1_train_5320 | A mutation in BMPR2 (bone morphogenetic protein receptor type 2), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Pulmonary hypertension, primary, 1 | TTACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAATTAGGAACATACTGTATAAACAATTT... | TTACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAATTAGGAACATACTGTATAAACAATTT... |
Task1_train_5321 | The gene BMPR2 (bone morphogenetic protein receptor type 2) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Pulmonary arterial hypertension | TTACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAATTAGGAACATACTGTATAAACAATTT... | TTACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAATTAGGAACATACTGTATAAACAATTT... |
Task1_train_5322 | A genomic change on Chromosome 2 affects BMPR2 (bone morphogenetic protein receptor type 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Primary pulmonary hypertension | TACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAATTAGGAACATACTGTATAAACAATTTC... | TACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAATTAGGAACATACTGTATAAACAATTTC... |
Task1_train_5323 | Here’s a variant in BMPR2 (bone morphogenetic protein receptor type 2) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not specified | TACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAATTAGGAACATACTGTATAAACAATTTC... | TACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAATTAGGAACATACTGTATAAACAATTTC... |
Task1_train_5324 | Given this variant in gene BMPR2 (bone morphogenetic protein receptor type 2) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Primary pulmonary hypertension | TACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAATTAGGAACATACTGTATAAACAATTTC... | TACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAATTAGGAACATACTGTATAAACAATTTC... |
Task1_train_5325 | Consider this mutation in BMPR2 (bone morphogenetic protein receptor type 2) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Pulmonary arterial hypertension | GGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAATTAGGAACATACTGTATAAACAATTTCATAT... | GGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAATTAGGAACATACTGTATAAACAATTTCATAT... |
Task1_train_5326 | Gene BMPR2 (bone morphogenetic protein receptor type 2), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Pulmonary hypertension, primary, 1 | GGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAATTAGGAACATACTGTATAAACAATTTCATATCCAGTTTTCTCCA... | GGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAATTAGGAACATACTGTATAAACAATTTCATATCCAGTTTTCTCCA... |
Task1_train_5327 | Here is a mutation in BMPR2 (bone morphogenetic protein receptor type 2) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Pulmonary hypertension, primary, 1 | GGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAATTAGGAACATACTGTATAAACAATTTCATATCCAGTTTTCTCCA... | GGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAATTAGGAACATACTGTATAAACAATTTCATATCCAGTTTTCTCCA... |
Task1_train_5328 | The gene BMPR2 (bone morphogenetic protein receptor type 2), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Pulmonary arterial hypertension | GGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAATTAGGAACATACTGTATAAACAATTTCATATCCAGTTTTCTCCA... | GGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAATTAGGAACATACTGTATAAACAATTTCATATCCAGTTTTCTCCA... |
Task1_train_5329 | Here is a variant affecting BMPR2 (bone morphogenetic protein receptor type 2) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Pulmonary hypertension, primary, 1 | TCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAATTAGGAACATACTGTATAAACAATTTCATATCCAGTTTTCTCCACCT... | TCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGAGGTGGAGACCAGCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACAGGCTGAGGCAGGAGAATGGCATGAAGCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAATTAGGAACATACTGTATAAACAATTTCATATCCAGTTTTCTCCACCT... |
Task1_train_5330 | A sequence alteration has been identified in BMPR2 (bone morphogenetic protein receptor type 2) on Chromosome 2. Is it disease-inducing or harmless? | Pathogenic; Pulmonary arterial hypertension associated with congenital heart disease | AAGCCATGCTATTTTCATTAATAAAAATACCAATATTGATAAGTGTAACTACCATTTATTGCGTAGATAATATATGCTTTTTTAAAAAAAAACTTTAATTTTTTTTTTTTTTTTAAAGAAACAGAGTCTCACTTCATCACCCAAGCTGGAGTACAGTGATACAATCATGGCTCACTGCAGCCTCAAACTCCTGGGCCCAAGCAATCCTCCTGCCATAGCCCCCTGAGTAGCTGGGACTACAGGTGCATGCCACCATGCCTGACTAATTTTTTTTTTTAATTTGTTTTAATGTCTGGCATTTTGCTATGTTGTCCAGGCTG... | AAGCCATGCTATTTTCATTAATAAAAATACCAATATTGATAAGTGTAACTACCATTTATTGCGTAGATAATATATGCTTTTTTAAAAAAAAACTTTAATTTTTTTTTTTTTTTTAAAGAAACAGAGTCTCACTTCATCACCCAAGCTGGAGTACAGTGATACAATCATGGCTCACTGCAGCCTCAAACTCCTGGGCCCAAGCAATCCTCCTGCCATAGCCCCCTGAGTAGCTGGGACTACAGGTGCATGCCACCATGCCTGACTAATTTTTTTTTTTAATTTGTTTTAATGTCTGGCATTTTGCTATGTTGTCCAGGCTG... |
Task1_train_5331 | A variant found in Chromosome 2 affects BMPR2 (bone morphogenetic protein receptor type 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Pulmonary hypertension, primary, 1 | AAAGGACACTTTGTATAATTTTGATCTGGAAACAGTGTATGAAACACAACATATATCCTTAAATAAATGATGGTAAATCCCCAACCTGTTTTAATAAAAAGTAAAAGCAATCCCCAGAAGCCAAAAATAACGAGAATGGGTTACATTTTGCTGGTTCTTTGGGTGTTGAGTAATTTTTTTGTATTCTGGATATTGTGAATATTGTATTGTGGAACACTGAACTCAAAAATTAGCTGGGTATCATGGCACGCGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAAACGGAGGTTGCA... | AAAGGACACTTTGTATAATTTTGATCTGGAAACAGTGTATGAAACACAACATATATCCTTAAATAAATGATGGTAAATCCCCAACCTGTTTTAATAAAAAGTAAAAGCAATCCCCAGAAGCCAAAAATAACGAGAATGGGTTACATTTTGCTGGTTCTTTGGGTGTTGAGTAATTTTTTTGTATTCTGGATATTGTGAATATTGTATTGTGGAACACTGAACTCAAAAATTAGCTGGGTATCATGGCACGCGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAAACGGAGGTTGCA... |
Task1_train_5332 | The gene BMPR2 (bone morphogenetic protein receptor type 2), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Pulmonary hypertension, primary, 1 | TATGAAACACAACATATATCCTTAAATAAATGATGGTAAATCCCCAACCTGTTTTAATAAAAAGTAAAAGCAATCCCCAGAAGCCAAAAATAACGAGAATGGGTTACATTTTGCTGGTTCTTTGGGTGTTGAGTAATTTTTTTGTATTCTGGATATTGTGAATATTGTATTGTGGAACACTGAACTCAAAAATTAGCTGGGTATCATGGCACGCGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAAACGGAGGTTGCAGTGAGCTGAGACCGTGCCACTGCACTCCAGCCTGAGT... | TATGAAACACAACATATATCCTTAAATAAATGATGGTAAATCCCCAACCTGTTTTAATAAAAAGTAAAAGCAATCCCCAGAAGCCAAAAATAACGAGAATGGGTTACATTTTGCTGGTTCTTTGGGTGTTGAGTAATTTTTTTGTATTCTGGATATTGTGAATATTGTATTGTGGAACACTGAACTCAAAAATTAGCTGGGTATCATGGCACGCGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAAACGGAGGTTGCAGTGAGCTGAGACCGTGCCACTGCACTCCAGCCTGAGT... |
Task1_train_5333 | A mutation on Chromosome 2 affecting BMPR2 (bone morphogenetic protein receptor type 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Pulmonary hypertension, primary, 1 | TATGAAACACAACATATATCCTTAAATAAATGATGGTAAATCCCCAACCTGTTTTAATAAAAAGTAAAAGCAATCCCCAGAAGCCAAAAATAACGAGAATGGGTTACATTTTGCTGGTTCTTTGGGTGTTGAGTAATTTTTTTGTATTCTGGATATTGTGAATATTGTATTGTGGAACACTGAACTCAAAAATTAGCTGGGTATCATGGCACGCGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAAACGGAGGTTGCAGTGAGCTGAGACCGTGCCACTGCACTCCAGCCTGAGT... | TATGAAACACAACATATATCCTTAAATAAATGATGGTAAATCCCCAACCTGTTTTAATAAAAAGTAAAAGCAATCCCCAGAAGCCAAAAATAACGAGAATGGGTTACATTTTGCTGGTTCTTTGGGTGTTGAGTAATTTTTTTGTATTCTGGATATTGTGAATATTGTATTGTGGAACACTGAACTCAAAAATTAGCTGGGTATCATGGCACGCGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAAACGGAGGTTGCAGTGAGCTGAGACCGTGCCACTGCACTCCAGCCTGAGT... |
Task1_train_5334 | Given this variant in gene BMPR2 (bone morphogenetic protein receptor type 2) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Pulmonary hypertension, primary, 1 | AAGCAATCCCCAGAAGCCAAAAATAACGAGAATGGGTTACATTTTGCTGGTTCTTTGGGTGTTGAGTAATTTTTTTGTATTCTGGATATTGTGAATATTGTATTGTGGAACACTGAACTCAAAAATTAGCTGGGTATCATGGCACGCGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAAACGGAGGTTGCAGTGAGCTGAGACCGTGCCACTGCACTCCAGCCTGAGTGAAAGAGCAAGACTATCTCAATTAAAAAAAAAAAAAAAGATTTTTTTTTGTTGTTTTAGTAAGCAAT... | AAGCAATCCCCAGAAGCCAAAAATAACGAGAATGGGTTACATTTTGCTGGTTCTTTGGGTGTTGAGTAATTTTTTTGTATTCTGGATATTGTGAATATTGTATTGTGGAACACTGAACTCAAAAATTAGCTGGGTATCATGGCACGCGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAAACGGAGGTTGCAGTGAGCTGAGACCGTGCCACTGCACTCCAGCCTGAGTGAAAGAGCAAGACTATCTCAATTAAAAAAAAAAAAAAAGATTTTTTTTTGTTGTTTTAGTAAGCAAT... |
Task1_train_5335 | The gene BMPR2 (bone morphogenetic protein receptor type 2), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Pulmonary hypertension, primary, 1 | TTACATTTTGCTGGTTCTTTGGGTGTTGAGTAATTTTTTTGTATTCTGGATATTGTGAATATTGTATTGTGGAACACTGAACTCAAAAATTAGCTGGGTATCATGGCACGCGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAAACGGAGGTTGCAGTGAGCTGAGACCGTGCCACTGCACTCCAGCCTGAGTGAAAGAGCAAGACTATCTCAATTAAAAAAAAAAAAAAAGATTTTTTTTTGTTGTTTTAGTAAGCAATAAACTTGGTTGAACACATACCACAAATCTGTTTGGG... | TTACATTTTGCTGGTTCTTTGGGTGTTGAGTAATTTTTTTGTATTCTGGATATTGTGAATATTGTATTGTGGAACACTGAACTCAAAAATTAGCTGGGTATCATGGCACGCGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAAACGGAGGTTGCAGTGAGCTGAGACCGTGCCACTGCACTCCAGCCTGAGTGAAAGAGCAAGACTATCTCAATTAAAAAAAAAAAAAAAGATTTTTTTTTGTTGTTTTAGTAAGCAATAAACTTGGTTGAACACATACCACAAATCTGTTTGGG... |
Task1_train_5336 | Given a variant located on Chromosome 2 and affecting BMPR2 (bone morphogenetic protein receptor type 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Pulmonary hypertension, primary, 1 | GCCTCTTTTTTTTTTTTTTTTTTTTTTTTTTAATTGAGACAGTCTTGCTCTTTCGCCCAGGCTGGAGTGCAGTGGCGCGGTCTCAGCTCACTGCAACCTCCGTTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGCGTGTGCCATGATACCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCACACCCAGCCTAGAA... | GCCTCTTTTTTTTTTTTTTTTTTTTTTTTTTAATTGAGACAGTCTTGCTCTTTCGCCCAGGCTGGAGTGCAGTGGCGCGGTCTCAGCTCACTGCAACCTCCGTTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGCGTGTGCCATGATACCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCACACCCAGCCTAGAA... |
Task1_train_5337 | A change on Chromosome 2 affects gene BMPR2 (bone morphogenetic protein receptor type 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Pulmonary arterial hypertension | CTGCTTTCCCACCACTGTAAAGTTGAGAAATCATAAATCAAACCATCTGTAAGTGAAAGATCATCTGTATGCCTATACTATACTATTTTTACTTGAAGTGCTCTTTCACTGAATTCTATCCTTCCCAGCATCTTCAGATATAACTTTGTTATTTGGAGTAGAAATTTGGTAGTAAGGAATTATACTGTTATTACTTATTCAGCTGTTTGTTGCTTCCGAATAAGGAAGAATTGAACCTATTTATTTATTTGTAATAAGATCTCCCTATGAATTTTTTCCATATTATAATAGCAACGCATGCTTATTACCAAAGAAATATC... | CTGCTTTCCCACCACTGTAAAGTTGAGAAATCATAAATCAAACCATCTGTAAGTGAAAGATCATCTGTATGCCTATACTATACTATTTTTACTTGAAGTGCTCTTTCACTGAATTCTATCCTTCCCAGCATCTTCAGATATAACTTTGTTATTTGGAGTAGAAATTTGGTAGTAAGGAATTATACTGTTATTACTTATTCAGCTGTTTGTTGCTTCCGAATAAGGAAGAATTGAACCTATTTATTTATTTGTAATAAGATCTCCCTATGAATTTTTTCCATATTATAATAGCAACGCATGCTTATTACCAAAGAAATATC... |
Task1_train_5338 | Consider this mutation in BMPR2 (bone morphogenetic protein receptor type 2) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Pulmonary hypertension, primary, 1 | CTGCTTTCCCACCACTGTAAAGTTGAGAAATCATAAATCAAACCATCTGTAAGTGAAAGATCATCTGTATGCCTATACTATACTATTTTTACTTGAAGTGCTCTTTCACTGAATTCTATCCTTCCCAGCATCTTCAGATATAACTTTGTTATTTGGAGTAGAAATTTGGTAGTAAGGAATTATACTGTTATTACTTATTCAGCTGTTTGTTGCTTCCGAATAAGGAAGAATTGAACCTATTTATTTATTTGTAATAAGATCTCCCTATGAATTTTTTCCATATTATAATAGCAACGCATGCTTATTACCAAAGAAATATC... | CTGCTTTCCCACCACTGTAAAGTTGAGAAATCATAAATCAAACCATCTGTAAGTGAAAGATCATCTGTATGCCTATACTATACTATTTTTACTTGAAGTGCTCTTTCACTGAATTCTATCCTTCCCAGCATCTTCAGATATAACTTTGTTATTTGGAGTAGAAATTTGGTAGTAAGGAATTATACTGTTATTACTTATTCAGCTGTTTGTTGCTTCCGAATAAGGAAGAATTGAACCTATTTATTTATTTGTAATAAGATCTCCCTATGAATTTTTTCCATATTATAATAGCAACGCATGCTTATTACCAAAGAAATATC... |
Task1_train_5339 | This is a variant in BMPR2 (bone morphogenetic protein receptor type 2), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Pulmonary arterial hypertension | GAGAAATCATAAATCAAACCATCTGTAAGTGAAAGATCATCTGTATGCCTATACTATACTATTTTTACTTGAAGTGCTCTTTCACTGAATTCTATCCTTCCCAGCATCTTCAGATATAACTTTGTTATTTGGAGTAGAAATTTGGTAGTAAGGAATTATACTGTTATTACTTATTCAGCTGTTTGTTGCTTCCGAATAAGGAAGAATTGAACCTATTTATTTATTTGTAATAAGATCTCCCTATGAATTTTTTCCATATTATAATAGCAACGCATGCTTATTACCAAAGAAATATCTGACCAAAAAAATAGATATAGACA... | GAGAAATCATAAATCAAACCATCTGTAAGTGAAAGATCATCTGTATGCCTATACTATACTATTTTTACTTGAAGTGCTCTTTCACTGAATTCTATCCTTCCCAGCATCTTCAGATATAACTTTGTTATTTGGAGTAGAAATTTGGTAGTAAGGAATTATACTGTTATTACTTATTCAGCTGTTTGTTGCTTCCGAATAAGGAAGAATTGAACCTATTTATTTATTTGTAATAAGATCTCCCTATGAATTTTTTCCATATTATAATAGCAACGCATGCTTATTACCAAAGAAATATCTGACCAAAAAAATAGATATAGACA... |
Task1_train_5340 | Here’s a variant in BMPR2 (bone morphogenetic protein receptor type 2) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Pulmonary arterial hypertension | AAATCATAAATCAAACCATCTGTAAGTGAAAGATCATCTGTATGCCTATACTATACTATTTTTACTTGAAGTGCTCTTTCACTGAATTCTATCCTTCCCAGCATCTTCAGATATAACTTTGTTATTTGGAGTAGAAATTTGGTAGTAAGGAATTATACTGTTATTACTTATTCAGCTGTTTGTTGCTTCCGAATAAGGAAGAATTGAACCTATTTATTTATTTGTAATAAGATCTCCCTATGAATTTTTTCCATATTATAATAGCAACGCATGCTTATTACCAAAGAAATATCTGACCAAAAAAATAGATATAGACAACT... | AAATCATAAATCAAACCATCTGTAAGTGAAAGATCATCTGTATGCCTATACTATACTATTTTTACTTGAAGTGCTCTTTCACTGAATTCTATCCTTCCCAGCATCTTCAGATATAACTTTGTTATTTGGAGTAGAAATTTGGTAGTAAGGAATTATACTGTTATTACTTATTCAGCTGTTTGTTGCTTCCGAATAAGGAAGAATTGAACCTATTTATTTATTTGTAATAAGATCTCCCTATGAATTTTTTCCATATTATAATAGCAACGCATGCTTATTACCAAAGAAATATCTGACCAAAAAAATAGATATAGACAACT... |
Task1_train_5341 | This variant affects the gene BMPR2 (bone morphogenetic protein receptor type 2) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Primary pulmonary hypertension | TGTAAGTGAAAGATCATCTGTATGCCTATACTATACTATTTTTACTTGAAGTGCTCTTTCACTGAATTCTATCCTTCCCAGCATCTTCAGATATAACTTTGTTATTTGGAGTAGAAATTTGGTAGTAAGGAATTATACTGTTATTACTTATTCAGCTGTTTGTTGCTTCCGAATAAGGAAGAATTGAACCTATTTATTTATTTGTAATAAGATCTCCCTATGAATTTTTTCCATATTATAATAGCAACGCATGCTTATTACCAAAGAAATATCTGACCAAAAAAATAGATATAGACAACTCAGACTTCACCAGAAAATTA... | TGTAAGTGAAAGATCATCTGTATGCCTATACTATACTATTTTTACTTGAAGTGCTCTTTCACTGAATTCTATCCTTCCCAGCATCTTCAGATATAACTTTGTTATTTGGAGTAGAAATTTGGTAGTAAGGAATTATACTGTTATTACTTATTCAGCTGTTTGTTGCTTCCGAATAAGGAAGAATTGAACCTATTTATTTATTTGTAATAAGATCTCCCTATGAATTTTTTCCATATTATAATAGCAACGCATGCTTATTACCAAAGAAATATCTGACCAAAAAAATAGATATAGACAACTCAGACTTCACCAGAAAATTA... |
Task1_train_5342 | A mutation found in BMPR2 (bone morphogenetic protein receptor type 2) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Pulmonary arterial hypertension | GTAAGTGAAAGATCATCTGTATGCCTATACTATACTATTTTTACTTGAAGTGCTCTTTCACTGAATTCTATCCTTCCCAGCATCTTCAGATATAACTTTGTTATTTGGAGTAGAAATTTGGTAGTAAGGAATTATACTGTTATTACTTATTCAGCTGTTTGTTGCTTCCGAATAAGGAAGAATTGAACCTATTTATTTATTTGTAATAAGATCTCCCTATGAATTTTTTCCATATTATAATAGCAACGCATGCTTATTACCAAAGAAATATCTGACCAAAAAAATAGATATAGACAACTCAGACTTCACCAGAAAATTAC... | GTAAGTGAAAGATCATCTGTATGCCTATACTATACTATTTTTACTTGAAGTGCTCTTTCACTGAATTCTATCCTTCCCAGCATCTTCAGATATAACTTTGTTATTTGGAGTAGAAATTTGGTAGTAAGGAATTATACTGTTATTACTTATTCAGCTGTTTGTTGCTTCCGAATAAGGAAGAATTGAACCTATTTATTTATTTGTAATAAGATCTCCCTATGAATTTTTTCCATATTATAATAGCAACGCATGCTTATTACCAAAGAAATATCTGACCAAAAAAATAGATATAGACAACTCAGACTTCACCAGAAAATTAC... |
Task1_train_5343 | Here’s a variant in BMPR2 (bone morphogenetic protein receptor type 2) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Pulmonary arterial hypertension | GTGGCAGCATGTTTGTTAGTTTTAGTTAATGTTTAACTATACATGCAACAGGAGTTATATTATAAAATATATTAGAAAATAGTGATGAGTGTGAGTTGAAATTCCGATTTCTCTTTTTTTGTTATTAGAAAATTAATGGGCAGAAAAATAATACTACTTCTATATTTATGTATGTTCATTTCATGTTCAATAGTCCCTTTTATTCATTGATAAATATTTGAAATTATCCAAACAGATCATTATAAACCTGCAATTTCCCATCGAGATTTAAACAGCAGAAATGTCCTAGTGAAAAATGATGGAACCTGTGTTATTAGTGA... | GTGGCAGCATGTTTGTTAGTTTTAGTTAATGTTTAACTATACATGCAACAGGAGTTATATTATAAAATATATTAGAAAATAGTGATGAGTGTGAGTTGAAATTCCGATTTCTCTTTTTTTGTTATTAGAAAATTAATGGGCAGAAAAATAATACTACTTCTATATTTATGTATGTTCATTTCATGTTCAATAGTCCCTTTTATTCATTGATAAATATTTGAAATTATCCAAACAGATCATTATAAACCTGCAATTTCCCATCGAGATTTAAACAGCAGAAATGTCCTAGTGAAAAATGATGGAACCTGTGTTATTAGTGA... |
Task1_train_5344 | This sequence variant lies in BMPR2 (bone morphogenetic protein receptor type 2) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Pulmonary arterial hypertension | AGCATGTTTGTTAGTTTTAGTTAATGTTTAACTATACATGCAACAGGAGTTATATTATAAAATATATTAGAAAATAGTGATGAGTGTGAGTTGAAATTCCGATTTCTCTTTTTTTGTTATTAGAAAATTAATGGGCAGAAAAATAATACTACTTCTATATTTATGTATGTTCATTTCATGTTCAATAGTCCCTTTTATTCATTGATAAATATTTGAAATTATCCAAACAGATCATTATAAACCTGCAATTTCCCATCGAGATTTAAACAGCAGAAATGTCCTAGTGAAAAATGATGGAACCTGTGTTATTAGTGACTTTG... | AGCATGTTTGTTAGTTTTAGTTAATGTTTAACTATACATGCAACAGGAGTTATATTATAAAATATATTAGAAAATAGTGATGAGTGTGAGTTGAAATTCCGATTTCTCTTTTTTTGTTATTAGAAAATTAATGGGCAGAAAAATAATACTACTTCTATATTTATGTATGTTCATTTCATGTTCAATAGTCCCTTTTATTCATTGATAAATATTTGAAATTATCCAAACAGATCATTATAAACCTGCAATTTCCCATCGAGATTTAAACAGCAGAAATGTCCTAGTGAAAAATGATGGAACCTGTGTTATTAGTGACTTTG... |
Task1_train_5345 | A variant affecting Chromosome 2, within the gene BMPR2 (bone morphogenetic protein receptor type 2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Pulmonary arterial hypertension | AGCATGTTTGTTAGTTTTAGTTAATGTTTAACTATACATGCAACAGGAGTTATATTATAAAATATATTAGAAAATAGTGATGAGTGTGAGTTGAAATTCCGATTTCTCTTTTTTTGTTATTAGAAAATTAATGGGCAGAAAAATAATACTACTTCTATATTTATGTATGTTCATTTCATGTTCAATAGTCCCTTTTATTCATTGATAAATATTTGAAATTATCCAAACAGATCATTATAAACCTGCAATTTCCCATCGAGATTTAAACAGCAGAAATGTCCTAGTGAAAAATGATGGAACCTGTGTTATTAGTGACTTTG... | AGCATGTTTGTTAGTTTTAGTTAATGTTTAACTATACATGCAACAGGAGTTATATTATAAAATATATTAGAAAATAGTGATGAGTGTGAGTTGAAATTCCGATTTCTCTTTTTTTGTTATTAGAAAATTAATGGGCAGAAAAATAATACTACTTCTATATTTATGTATGTTCATTTCATGTTCAATAGTCCCTTTTATTCATTGATAAATATTTGAAATTATCCAAACAGATCATTATAAACCTGCAATTTCCCATCGAGATTTAAACAGCAGAAATGTCCTAGTGAAAAATGATGGAACCTGTGTTATTAGTGACTTTG... |
Task1_train_5346 | A mutation in BMPR2 (bone morphogenetic protein receptor type 2), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Pulmonary arterial hypertension | GCATGTTTGTTAGTTTTAGTTAATGTTTAACTATACATGCAACAGGAGTTATATTATAAAATATATTAGAAAATAGTGATGAGTGTGAGTTGAAATTCCGATTTCTCTTTTTTTGTTATTAGAAAATTAATGGGCAGAAAAATAATACTACTTCTATATTTATGTATGTTCATTTCATGTTCAATAGTCCCTTTTATTCATTGATAAATATTTGAAATTATCCAAACAGATCATTATAAACCTGCAATTTCCCATCGAGATTTAAACAGCAGAAATGTCCTAGTGAAAAATGATGGAACCTGTGTTATTAGTGACTTTGG... | GCATGTTTGTTAGTTTTAGTTAATGTTTAACTATACATGCAACAGGAGTTATATTATAAAATATATTAGAAAATAGTGATGAGTGTGAGTTGAAATTCCGATTTCTCTTTTTTTGTTATTAGAAAATTAATGGGCAGAAAAATAATACTACTTCTATATTTATGTATGTTCATTTCATGTTCAATAGTCCCTTTTATTCATTGATAAATATTTGAAATTATCCAAACAGATCATTATAAACCTGCAATTTCCCATCGAGATTTAAACAGCAGAAATGTCCTAGTGAAAAATGATGGAACCTGTGTTATTAGTGACTTTGG... |
Task1_train_5347 | This gene mutation involves BMPR2 (bone morphogenetic protein receptor type 2) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Pulmonary arterial hypertension | GCATGTTTGTTAGTTTTAGTTAATGTTTAACTATACATGCAACAGGAGTTATATTATAAAATATATTAGAAAATAGTGATGAGTGTGAGTTGAAATTCCGATTTCTCTTTTTTTGTTATTAGAAAATTAATGGGCAGAAAAATAATACTACTTCTATATTTATGTATGTTCATTTCATGTTCAATAGTCCCTTTTATTCATTGATAAATATTTGAAATTATCCAAACAGATCATTATAAACCTGCAATTTCCCATCGAGATTTAAACAGCAGAAATGTCCTAGTGAAAAATGATGGAACCTGTGTTATTAGTGACTTTGG... | GCATGTTTGTTAGTTTTAGTTAATGTTTAACTATACATGCAACAGGAGTTATATTATAAAATATATTAGAAAATAGTGATGAGTGTGAGTTGAAATTCCGATTTCTCTTTTTTTGTTATTAGAAAATTAATGGGCAGAAAAATAATACTACTTCTATATTTATGTATGTTCATTTCATGTTCAATAGTCCCTTTTATTCATTGATAAATATTTGAAATTATCCAAACAGATCATTATAAACCTGCAATTTCCCATCGAGATTTAAACAGCAGAAATGTCCTAGTGAAAAATGATGGAACCTGTGTTATTAGTGACTTTGG... |
Task1_train_5348 | This variant lies on Chromosome 2 and affects the gene BMPR2 (bone morphogenetic protein receptor type 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Pulmonary arterial hypertension | GCATGTTTGTTAGTTTTAGTTAATGTTTAACTATACATGCAACAGGAGTTATATTATAAAATATATTAGAAAATAGTGATGAGTGTGAGTTGAAATTCCGATTTCTCTTTTTTTGTTATTAGAAAATTAATGGGCAGAAAAATAATACTACTTCTATATTTATGTATGTTCATTTCATGTTCAATAGTCCCTTTTATTCATTGATAAATATTTGAAATTATCCAAACAGATCATTATAAACCTGCAATTTCCCATCGAGATTTAAACAGCAGAAATGTCCTAGTGAAAAATGATGGAACCTGTGTTATTAGTGACTTTGG... | GCATGTTTGTTAGTTTTAGTTAATGTTTAACTATACATGCAACAGGAGTTATATTATAAAATATATTAGAAAATAGTGATGAGTGTGAGTTGAAATTCCGATTTCTCTTTTTTTGTTATTAGAAAATTAATGGGCAGAAAAATAATACTACTTCTATATTTATGTATGTTCATTTCATGTTCAATAGTCCCTTTTATTCATTGATAAATATTTGAAATTATCCAAACAGATCATTATAAACCTGCAATTTCCCATCGAGATTTAAACAGCAGAAATGTCCTAGTGAAAAATGATGGAACCTGTGTTATTAGTGACTTTGG... |
Task1_train_5349 | Given a variant located on Chromosome 2 and affecting BMPR2 (bone morphogenetic protein receptor type 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Pulmonary arterial hypertension | TTTAGTTAATGTTTAACTATACATGCAACAGGAGTTATATTATAAAATATATTAGAAAATAGTGATGAGTGTGAGTTGAAATTCCGATTTCTCTTTTTTTGTTATTAGAAAATTAATGGGCAGAAAAATAATACTACTTCTATATTTATGTATGTTCATTTCATGTTCAATAGTCCCTTTTATTCATTGATAAATATTTGAAATTATCCAAACAGATCATTATAAACCTGCAATTTCCCATCGAGATTTAAACAGCAGAAATGTCCTAGTGAAAAATGATGGAACCTGTGTTATTAGTGACTTTGGACTGTCCATGAGGC... | TTTAGTTAATGTTTAACTATACATGCAACAGGAGTTATATTATAAAATATATTAGAAAATAGTGATGAGTGTGAGTTGAAATTCCGATTTCTCTTTTTTTGTTATTAGAAAATTAATGGGCAGAAAAATAATACTACTTCTATATTTATGTATGTTCATTTCATGTTCAATAGTCCCTTTTATTCATTGATAAATATTTGAAATTATCCAAACAGATCATTATAAACCTGCAATTTCCCATCGAGATTTAAACAGCAGAAATGTCCTAGTGAAAAATGATGGAACCTGTGTTATTAGTGACTTTGGACTGTCCATGAGGC... |
Task1_train_5350 | The variant affects gene BMPR2 (bone morphogenetic protein receptor type 2), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Pulmonary arterial hypertension | GTTAATGTTTAACTATACATGCAACAGGAGTTATATTATAAAATATATTAGAAAATAGTGATGAGTGTGAGTTGAAATTCCGATTTCTCTTTTTTTGTTATTAGAAAATTAATGGGCAGAAAAATAATACTACTTCTATATTTATGTATGTTCATTTCATGTTCAATAGTCCCTTTTATTCATTGATAAATATTTGAAATTATCCAAACAGATCATTATAAACCTGCAATTTCCCATCGAGATTTAAACAGCAGAAATGTCCTAGTGAAAAATGATGGAACCTGTGTTATTAGTGACTTTGGACTGTCCATGAGGCTGAC... | GTTAATGTTTAACTATACATGCAACAGGAGTTATATTATAAAATATATTAGAAAATAGTGATGAGTGTGAGTTGAAATTCCGATTTCTCTTTTTTTGTTATTAGAAAATTAATGGGCAGAAAAATAATACTACTTCTATATTTATGTATGTTCATTTCATGTTCAATAGTCCCTTTTATTCATTGATAAATATTTGAAATTATCCAAACAGATCATTATAAACCTGCAATTTCCCATCGAGATTTAAACAGCAGAAATGTCCTAGTGAAAAATGATGGAACCTGTGTTATTAGTGACTTTGGACTGTCCATGAGGCTGAC... |
Task1_train_5351 | This mutation is located in gene BMPR2 (bone morphogenetic protein receptor type 2) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Pulmonary arterial hypertension | TATTAGAAAATAGTGATGAGTGTGAGTTGAAATTCCGATTTCTCTTTTTTTGTTATTAGAAAATTAATGGGCAGAAAAATAATACTACTTCTATATTTATGTATGTTCATTTCATGTTCAATAGTCCCTTTTATTCATTGATAAATATTTGAAATTATCCAAACAGATCATTATAAACCTGCAATTTCCCATCGAGATTTAAACAGCAGAAATGTCCTAGTGAAAAATGATGGAACCTGTGTTATTAGTGACTTTGGACTGTCCATGAGGCTGACTGGAAATAGACTGGTGCGCCCAGGGGAGGAAGATAATGCAGCCAT... | TATTAGAAAATAGTGATGAGTGTGAGTTGAAATTCCGATTTCTCTTTTTTTGTTATTAGAAAATTAATGGGCAGAAAAATAATACTACTTCTATATTTATGTATGTTCATTTCATGTTCAATAGTCCCTTTTATTCATTGATAAATATTTGAAATTATCCAAACAGATCATTATAAACCTGCAATTTCCCATCGAGATTTAAACAGCAGAAATGTCCTAGTGAAAAATGATGGAACCTGTGTTATTAGTGACTTTGGACTGTCCATGAGGCTGACTGGAAATAGACTGGTGCGCCCAGGGGAGGAAGATAATGCAGCCAT... |
Task1_train_5352 | A genetic alteration is present in BMPR2 (bone morphogenetic protein receptor type 2) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Pulmonary arterial hypertension | AATAGTGATGAGTGTGAGTTGAAATTCCGATTTCTCTTTTTTTGTTATTAGAAAATTAATGGGCAGAAAAATAATACTACTTCTATATTTATGTATGTTCATTTCATGTTCAATAGTCCCTTTTATTCATTGATAAATATTTGAAATTATCCAAACAGATCATTATAAACCTGCAATTTCCCATCGAGATTTAAACAGCAGAAATGTCCTAGTGAAAAATGATGGAACCTGTGTTATTAGTGACTTTGGACTGTCCATGAGGCTGACTGGAAATAGACTGGTGCGCCCAGGGGAGGAAGATAATGCAGCCATAAGCGAGG... | AATAGTGATGAGTGTGAGTTGAAATTCCGATTTCTCTTTTTTTGTTATTAGAAAATTAATGGGCAGAAAAATAATACTACTTCTATATTTATGTATGTTCATTTCATGTTCAATAGTCCCTTTTATTCATTGATAAATATTTGAAATTATCCAAACAGATCATTATAAACCTGCAATTTCCCATCGAGATTTAAACAGCAGAAATGTCCTAGTGAAAAATGATGGAACCTGTGTTATTAGTGACTTTGGACTGTCCATGAGGCTGACTGGAAATAGACTGGTGCGCCCAGGGGAGGAAGATAATGCAGCCATAAGCGAGG... |
Task1_train_5353 | A variant on Chromosome 2 in gene BMPR2 (bone morphogenetic protein receptor type 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Pulmonary arterial hypertension | AATAGTGATGAGTGTGAGTTGAAATTCCGATTTCTCTTTTTTTGTTATTAGAAAATTAATGGGCAGAAAAATAATACTACTTCTATATTTATGTATGTTCATTTCATGTTCAATAGTCCCTTTTATTCATTGATAAATATTTGAAATTATCCAAACAGATCATTATAAACCTGCAATTTCCCATCGAGATTTAAACAGCAGAAATGTCCTAGTGAAAAATGATGGAACCTGTGTTATTAGTGACTTTGGACTGTCCATGAGGCTGACTGGAAATAGACTGGTGCGCCCAGGGGAGGAAGATAATGCAGCCATAAGCGAGG... | AATAGTGATGAGTGTGAGTTGAAATTCCGATTTCTCTTTTTTTGTTATTAGAAAATTAATGGGCAGAAAAATAATACTACTTCTATATTTATGTATGTTCATTTCATGTTCAATAGTCCCTTTTATTCATTGATAAATATTTGAAATTATCCAAACAGATCATTATAAACCTGCAATTTCCCATCGAGATTTAAACAGCAGAAATGTCCTAGTGAAAAATGATGGAACCTGTGTTATTAGTGACTTTGGACTGTCCATGAGGCTGACTGGAAATAGACTGGTGCGCCCAGGGGAGGAAGATAATGCAGCCATAAGCGAGG... |
Task1_train_5354 | This variant affects the gene BMPR2 (bone morphogenetic protein receptor type 2) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Pulmonary arterial hypertension | ATTTCTCTTTTTTTGTTATTAGAAAATTAATGGGCAGAAAAATAATACTACTTCTATATTTATGTATGTTCATTTCATGTTCAATAGTCCCTTTTATTCATTGATAAATATTTGAAATTATCCAAACAGATCATTATAAACCTGCAATTTCCCATCGAGATTTAAACAGCAGAAATGTCCTAGTGAAAAATGATGGAACCTGTGTTATTAGTGACTTTGGACTGTCCATGAGGCTGACTGGAAATAGACTGGTGCGCCCAGGGGAGGAAGATAATGCAGCCATAAGCGAGGTGAGTGTATACAAAAGGTATCACACTGAT... | ATTTCTCTTTTTTTGTTATTAGAAAATTAATGGGCAGAAAAATAATACTACTTCTATATTTATGTATGTTCATTTCATGTTCAATAGTCCCTTTTATTCATTGATAAATATTTGAAATTATCCAAACAGATCATTATAAACCTGCAATTTCCCATCGAGATTTAAACAGCAGAAATGTCCTAGTGAAAAATGATGGAACCTGTGTTATTAGTGACTTTGGACTGTCCATGAGGCTGACTGGAAATAGACTGGTGCGCCCAGGGGAGGAAGATAATGCAGCCATAAGCGAGGTGAGTGTATACAAAAGGTATCACACTGAT... |
Task1_train_5355 | This genomic variant is located on Chromosome 2, within the BMPR2 (bone morphogenetic protein receptor type 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Pulmonary arterial hypertension | TTTCTCTTTTTTTGTTATTAGAAAATTAATGGGCAGAAAAATAATACTACTTCTATATTTATGTATGTTCATTTCATGTTCAATAGTCCCTTTTATTCATTGATAAATATTTGAAATTATCCAAACAGATCATTATAAACCTGCAATTTCCCATCGAGATTTAAACAGCAGAAATGTCCTAGTGAAAAATGATGGAACCTGTGTTATTAGTGACTTTGGACTGTCCATGAGGCTGACTGGAAATAGACTGGTGCGCCCAGGGGAGGAAGATAATGCAGCCATAAGCGAGGTGAGTGTATACAAAAGGTATCACACTGATG... | TTTCTCTTTTTTTGTTATTAGAAAATTAATGGGCAGAAAAATAATACTACTTCTATATTTATGTATGTTCATTTCATGTTCAATAGTCCCTTTTATTCATTGATAAATATTTGAAATTATCCAAACAGATCATTATAAACCTGCAATTTCCCATCGAGATTTAAACAGCAGAAATGTCCTAGTGAAAAATGATGGAACCTGTGTTATTAGTGACTTTGGACTGTCCATGAGGCTGACTGGAAATAGACTGGTGCGCCCAGGGGAGGAAGATAATGCAGCCATAAGCGAGGTGAGTGTATACAAAAGGTATCACACTGATG... |
Task1_train_5356 | A variant was discovered on Chromosome 2, affecting BMPR2 (bone morphogenetic protein receptor type 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Primary pulmonary hypertension | TTCTCTTTTTTTGTTATTAGAAAATTAATGGGCAGAAAAATAATACTACTTCTATATTTATGTATGTTCATTTCATGTTCAATAGTCCCTTTTATTCATTGATAAATATTTGAAATTATCCAAACAGATCATTATAAACCTGCAATTTCCCATCGAGATTTAAACAGCAGAAATGTCCTAGTGAAAAATGATGGAACCTGTGTTATTAGTGACTTTGGACTGTCCATGAGGCTGACTGGAAATAGACTGGTGCGCCCAGGGGAGGAAGATAATGCAGCCATAAGCGAGGTGAGTGTATACAAAAGGTATCACACTGATGT... | TTCTCTTTTTTTGTTATTAGAAAATTAATGGGCAGAAAAATAATACTACTTCTATATTTATGTATGTTCATTTCATGTTCAATAGTCCCTTTTATTCATTGATAAATATTTGAAATTATCCAAACAGATCATTATAAACCTGCAATTTCCCATCGAGATTTAAACAGCAGAAATGTCCTAGTGAAAAATGATGGAACCTGTGTTATTAGTGACTTTGGACTGTCCATGAGGCTGACTGGAAATAGACTGGTGCGCCCAGGGGAGGAAGATAATGCAGCCATAAGCGAGGTGAGTGTATACAAAAGGTATCACACTGATGT... |
Task1_train_5357 | Chromosome 2 houses a mutation in gene BMPR2 (bone morphogenetic protein receptor type 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Primary pulmonary hypertension | ACAGATGGTATAGGATAAGGTTTTATCACATGGGGTTTCAAGGAAGAAAGTGATATACTAACTGCCATGATTATTAAATCCTTTAATTTTATCTCTCAAGTTCAATGTTGATGTTATTGATCAACACTAAGTATCTGCTTAAATGTTTACAGTATGTGAAACTCACTTGTATTTATACATAAGGCAGTATTACAACAAACTTGGGCGATGCTGCACAGATAATAGAATTAATCTTTGTAAATCTTTTTTAATATTGGTGGAGGGCAAGTATTTATTAGTTGTTTTGAGTATTCAAATAGAAACAAAACTTAAATGAAACA... | ACAGATGGTATAGGATAAGGTTTTATCACATGGGGTTTCAAGGAAGAAAGTGATATACTAACTGCCATGATTATTAAATCCTTTAATTTTATCTCTCAAGTTCAATGTTGATGTTATTGATCAACACTAAGTATCTGCTTAAATGTTTACAGTATGTGAAACTCACTTGTATTTATACATAAGGCAGTATTACAACAAACTTGGGCGATGCTGCACAGATAATAGAATTAATCTTTGTAAATCTTTTTTAATATTGGTGGAGGGCAAGTATTTATTAGTTGTTTTGAGTATTCAAATAGAAACAAAACTTAAATGAAACA... |
Task1_train_5358 | This alteration in BMPR2 (bone morphogenetic protein receptor type 2) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Primary pulmonary hypertension | GCTCATGTAGGAGGATTGCTTAGGTCCAGGAGTTCAAGGCTGCAGTAACCTGTGATCATGCCACAGCACTCGAGCCTGGGCAACAGAATGAGACCTCTTTTTTTGTTTTTGTTTTTAAAAAGGAGTTACAAACCAAAAATATAATAATAGTGGCTTTTATAGTTACCTAAGTAGGCTTTTGGGTTCTACTTATTATCTAATGTCCTTTGAGGGACTCCCTTTAACATTTCTTGTAGAGCATATCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGCCAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCG... | GCTCATGTAGGAGGATTGCTTAGGTCCAGGAGTTCAAGGCTGCAGTAACCTGTGATCATGCCACAGCACTCGAGCCTGGGCAACAGAATGAGACCTCTTTTTTTGTTTTTGTTTTTAAAAAGGAGTTACAAACCAAAAATATAATAATAGTGGCTTTTATAGTTACCTAAGTAGGCTTTTGGGTTCTACTTATTATCTAATGTCCTTTGAGGGACTCCCTTTAACATTTCTTGTAGAGCATATCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGCCAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCG... |
Task1_train_5359 | An alteration has been detected in BMPR2 (bone morphogenetic protein receptor type 2) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Pulmonary hypertension, primary, 1 | GTAGGAGGATTGCTTAGGTCCAGGAGTTCAAGGCTGCAGTAACCTGTGATCATGCCACAGCACTCGAGCCTGGGCAACAGAATGAGACCTCTTTTTTTGTTTTTGTTTTTAAAAAGGAGTTACAAACCAAAAATATAATAATAGTGGCTTTTATAGTTACCTAAGTAGGCTTTTGGGTTCTACTTATTATCTAATGTCCTTTGAGGGACTCCCTTTAACATTTCTTGTAGAGCATATCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGCCAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCG... | GTAGGAGGATTGCTTAGGTCCAGGAGTTCAAGGCTGCAGTAACCTGTGATCATGCCACAGCACTCGAGCCTGGGCAACAGAATGAGACCTCTTTTTTTGTTTTTGTTTTTAAAAAGGAGTTACAAACCAAAAATATAATAATAGTGGCTTTTATAGTTACCTAAGTAGGCTTTTGGGTTCTACTTATTATCTAATGTCCTTTGAGGGACTCCCTTTAACATTTCTTGTAGAGCATATCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGCCAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCG... |
Task1_train_5360 | This alteration occurs within gene BMPR2 (bone morphogenetic protein receptor type 2) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; Pulmonary hypertension, primary, 1 | TAGGAGGATTGCTTAGGTCCAGGAGTTCAAGGCTGCAGTAACCTGTGATCATGCCACAGCACTCGAGCCTGGGCAACAGAATGAGACCTCTTTTTTTGTTTTTGTTTTTAAAAAGGAGTTACAAACCAAAAATATAATAATAGTGGCTTTTATAGTTACCTAAGTAGGCTTTTGGGTTCTACTTATTATCTAATGTCCTTTGAGGGACTCCCTTTAACATTTCTTGTAGAGCATATCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGCCAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGG... | TAGGAGGATTGCTTAGGTCCAGGAGTTCAAGGCTGCAGTAACCTGTGATCATGCCACAGCACTCGAGCCTGGGCAACAGAATGAGACCTCTTTTTTTGTTTTTGTTTTTAAAAAGGAGTTACAAACCAAAAATATAATAATAGTGGCTTTTATAGTTACCTAAGTAGGCTTTTGGGTTCTACTTATTATCTAATGTCCTTTGAGGGACTCCCTTTAACATTTCTTGTAGAGCATATCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGCCAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGG... |
Task1_train_5361 | This variant affects gene BMPR2 (bone morphogenetic protein receptor type 2) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Pulmonary arterial hypertension | TAGGAGGATTGCTTAGGTCCAGGAGTTCAAGGCTGCAGTAACCTGTGATCATGCCACAGCACTCGAGCCTGGGCAACAGAATGAGACCTCTTTTTTTGTTTTTGTTTTTAAAAAGGAGTTACAAACCAAAAATATAATAATAGTGGCTTTTATAGTTACCTAAGTAGGCTTTTGGGTTCTACTTATTATCTAATGTCCTTTGAGGGACTCCCTTTAACATTTCTTGTAGAGCATATCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGCCAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGG... | TAGGAGGATTGCTTAGGTCCAGGAGTTCAAGGCTGCAGTAACCTGTGATCATGCCACAGCACTCGAGCCTGGGCAACAGAATGAGACCTCTTTTTTTGTTTTTGTTTTTAAAAAGGAGTTACAAACCAAAAATATAATAATAGTGGCTTTTATAGTTACCTAAGTAGGCTTTTGGGTTCTACTTATTATCTAATGTCCTTTGAGGGACTCCCTTTAACATTTCTTGTAGAGCATATCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGCCAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGG... |
Task1_train_5362 | Consider this mutation in BMPR2 (bone morphogenetic protein receptor type 2) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Pulmonary hypertension, primary, 1 | GATTGCTTAGGTCCAGGAGTTCAAGGCTGCAGTAACCTGTGATCATGCCACAGCACTCGAGCCTGGGCAACAGAATGAGACCTCTTTTTTTGTTTTTGTTTTTAAAAAGGAGTTACAAACCAAAAATATAATAATAGTGGCTTTTATAGTTACCTAAGTAGGCTTTTGGGTTCTACTTATTATCTAATGTCCTTTGAGGGACTCCCTTTAACATTTCTTGTAGAGCATATCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGCCAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACT... | GATTGCTTAGGTCCAGGAGTTCAAGGCTGCAGTAACCTGTGATCATGCCACAGCACTCGAGCCTGGGCAACAGAATGAGACCTCTTTTTTTGTTTTTGTTTTTAAAAAGGAGTTACAAACCAAAAATATAATAATAGTGGCTTTTATAGTTACCTAAGTAGGCTTTTGGGTTCTACTTATTATCTAATGTCCTTTGAGGGACTCCCTTTAACATTTCTTGTAGAGCATATCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGCCAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACT... |
Task1_train_5363 | The following genetic variant occurs in BMPR2 (bone morphogenetic protein receptor type 2) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Pulmonary hypertension, primary, 1 | GGTCCAGGAGTTCAAGGCTGCAGTAACCTGTGATCATGCCACAGCACTCGAGCCTGGGCAACAGAATGAGACCTCTTTTTTTGTTTTTGTTTTTAAAAAGGAGTTACAAACCAAAAATATAATAATAGTGGCTTTTATAGTTACCTAAGTAGGCTTTTGGGTTCTACTTATTATCTAATGTCCTTTGAGGGACTCCCTTTAACATTTCTTGTAGAGCATATCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGCCAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTCCAACATCC... | GGTCCAGGAGTTCAAGGCTGCAGTAACCTGTGATCATGCCACAGCACTCGAGCCTGGGCAACAGAATGAGACCTCTTTTTTTGTTTTTGTTTTTAAAAAGGAGTTACAAACCAAAAATATAATAATAGTGGCTTTTATAGTTACCTAAGTAGGCTTTTGGGTTCTACTTATTATCTAATGTCCTTTGAGGGACTCCCTTTAACATTTCTTGTAGAGCATATCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGCCAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTCCAACATCC... |
Task1_train_5364 | The following genetic variant occurs in BMPR2 (bone morphogenetic protein receptor type 2) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Primary pulmonary hypertension | TCCAGGAGTTCAAGGCTGCAGTAACCTGTGATCATGCCACAGCACTCGAGCCTGGGCAACAGAATGAGACCTCTTTTTTTGTTTTTGTTTTTAAAAAGGAGTTACAAACCAAAAATATAATAATAGTGGCTTTTATAGTTACCTAAGTAGGCTTTTGGGTTCTACTTATTATCTAATGTCCTTTGAGGGACTCCCTTTAACATTTCTTGTAGAGCATATCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGCCAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTCCAACATCCGC... | TCCAGGAGTTCAAGGCTGCAGTAACCTGTGATCATGCCACAGCACTCGAGCCTGGGCAACAGAATGAGACCTCTTTTTTTGTTTTTGTTTTTAAAAAGGAGTTACAAACCAAAAATATAATAATAGTGGCTTTTATAGTTACCTAAGTAGGCTTTTGGGTTCTACTTATTATCTAATGTCCTTTGAGGGACTCCCTTTAACATTTCTTGTAGAGCATATCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGCCAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTCCAACATCCGC... |
Task1_train_5365 | A mutation found in BMPR2 (bone morphogenetic protein receptor type 2) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Pulmonary hypertension, primary, 1 | TCCAGGAGTTCAAGGCTGCAGTAACCTGTGATCATGCCACAGCACTCGAGCCTGGGCAACAGAATGAGACCTCTTTTTTTGTTTTTGTTTTTAAAAAGGAGTTACAAACCAAAAATATAATAATAGTGGCTTTTATAGTTACCTAAGTAGGCTTTTGGGTTCTACTTATTATCTAATGTCCTTTGAGGGACTCCCTTTAACATTTCTTGTAGAGCATATCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGCCAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTCCAACATCCGC... | TCCAGGAGTTCAAGGCTGCAGTAACCTGTGATCATGCCACAGCACTCGAGCCTGGGCAACAGAATGAGACCTCTTTTTTTGTTTTTGTTTTTAAAAAGGAGTTACAAACCAAAAATATAATAATAGTGGCTTTTATAGTTACCTAAGTAGGCTTTTGGGTTCTACTTATTATCTAATGTCCTTTGAGGGACTCCCTTTAACATTTCTTGTAGAGCATATCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGCCAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTCCAACATCCGC... |
Task1_train_5366 | Chromosome 2 houses a mutation in gene BMPR2 (bone morphogenetic protein receptor type 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Pulmonary venoocclusive disease 1 | TCCAGGAGTTCAAGGCTGCAGTAACCTGTGATCATGCCACAGCACTCGAGCCTGGGCAACAGAATGAGACCTCTTTTTTTGTTTTTGTTTTTAAAAAGGAGTTACAAACCAAAAATATAATAATAGTGGCTTTTATAGTTACCTAAGTAGGCTTTTGGGTTCTACTTATTATCTAATGTCCTTTGAGGGACTCCCTTTAACATTTCTTGTAGAGCATATCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGCCAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTCCAACATCCGC... | TCCAGGAGTTCAAGGCTGCAGTAACCTGTGATCATGCCACAGCACTCGAGCCTGGGCAACAGAATGAGACCTCTTTTTTTGTTTTTGTTTTTAAAAAGGAGTTACAAACCAAAAATATAATAATAGTGGCTTTTATAGTTACCTAAGTAGGCTTTTGGGTTCTACTTATTATCTAATGTCCTTTGAGGGACTCCCTTTAACATTTCTTGTAGAGCATATCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGCCAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTCCAACATCCGC... |
Task1_train_5367 | A mutation in BMPR2 (bone morphogenetic protein receptor type 2), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Pulmonary arterial hypertension | TCCAGGAGTTCAAGGCTGCAGTAACCTGTGATCATGCCACAGCACTCGAGCCTGGGCAACAGAATGAGACCTCTTTTTTTGTTTTTGTTTTTAAAAAGGAGTTACAAACCAAAAATATAATAATAGTGGCTTTTATAGTTACCTAAGTAGGCTTTTGGGTTCTACTTATTATCTAATGTCCTTTGAGGGACTCCCTTTAACATTTCTTGTAGAGCATATCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGCCAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTCCAACATCCGC... | TCCAGGAGTTCAAGGCTGCAGTAACCTGTGATCATGCCACAGCACTCGAGCCTGGGCAACAGAATGAGACCTCTTTTTTTGTTTTTGTTTTTAAAAAGGAGTTACAAACCAAAAATATAATAATAGTGGCTTTTATAGTTACCTAAGTAGGCTTTTGGGTTCTACTTATTATCTAATGTCCTTTGAGGGACTCCCTTTAACATTTCTTGTAGAGCATATCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGCCAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTCCAACATCCGC... |
Task1_train_5368 | A variant was discovered on Chromosome 2, affecting BMPR2 (bone morphogenetic protein receptor type 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Pulmonary arterial hypertension | CCAGGAGTTCAAGGCTGCAGTAACCTGTGATCATGCCACAGCACTCGAGCCTGGGCAACAGAATGAGACCTCTTTTTTTGTTTTTGTTTTTAAAAAGGAGTTACAAACCAAAAATATAATAATAGTGGCTTTTATAGTTACCTAAGTAGGCTTTTGGGTTCTACTTATTATCTAATGTCCTTTGAGGGACTCCCTTTAACATTTCTTGTAGAGCATATCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGCCAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTCCAACATCCGCC... | CCAGGAGTTCAAGGCTGCAGTAACCTGTGATCATGCCACAGCACTCGAGCCTGGGCAACAGAATGAGACCTCTTTTTTTGTTTTTGTTTTTAAAAAGGAGTTACAAACCAAAAATATAATAATAGTGGCTTTTATAGTTACCTAAGTAGGCTTTTGGGTTCTACTTATTATCTAATGTCCTTTGAGGGACTCCCTTTAACATTTCTTGTAGAGCATATCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGCCAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTCCAACATCCGCC... |
Task1_train_5369 | Given a variant located on Chromosome 2 and affecting BMPR2 (bone morphogenetic protein receptor type 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Pulmonary hypertension, primary, 1 | CTGCAGTAACCTGTGATCATGCCACAGCACTCGAGCCTGGGCAACAGAATGAGACCTCTTTTTTTGTTTTTGTTTTTAAAAAGGAGTTACAAACCAAAAATATAATAATAGTGGCTTTTATAGTTACCTAAGTAGGCTTTTGGGTTCTACTTATTATCTAATGTCCTTTGAGGGACTCCCTTTAACATTTCTTGTAGAGCATATCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGCCAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTCCAACATCCGCCTCCTGGGTTCAAGC... | CTGCAGTAACCTGTGATCATGCCACAGCACTCGAGCCTGGGCAACAGAATGAGACCTCTTTTTTTGTTTTTGTTTTTAAAAAGGAGTTACAAACCAAAAATATAATAATAGTGGCTTTTATAGTTACCTAAGTAGGCTTTTGGGTTCTACTTATTATCTAATGTCCTTTGAGGGACTCCCTTTAACATTTCTTGTAGAGCATATCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGCCAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTCCAACATCCGCCTCCTGGGTTCAAGC... |
Task1_train_5370 | The gene BMPR2 (bone morphogenetic protein receptor type 2) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | TGAGACCTCTTTTTTTGTTTTTGTTTTTAAAAAGGAGTTACAAACCAAAAATATAATAATAGTGGCTTTTATAGTTACCTAAGTAGGCTTTTGGGTTCTACTTATTATCTAATGTCCTTTGAGGGACTCCCTTTAACATTTCTTGTAGAGCATATCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGCCAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTCCAACATCCGCCTCCTGGGTTCAAGCAATTTTCCTGCCTCAGCATCCCAAATAGCAGATGTAGATATATACAAGT... | TGAGACCTCTTTTTTTGTTTTTGTTTTTAAAAAGGAGTTACAAACCAAAAATATAATAATAGTGGCTTTTATAGTTACCTAAGTAGGCTTTTGGGTTCTACTTATTATCTAATGTCCTTTGAGGGACTCCCTTTAACATTTCTTGTAGAGCATATCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGCCAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTCCAACATCCGCCTCCTGGGTTCAAGCAATTTTCCTGCCTCAGCATCCCAAATAGCAGATGTAGATATATACAAGT... |
Task1_train_5371 | With a mutation on Chromosome 2 in gene BMPR2 (bone morphogenetic protein receptor type 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Pulmonary hypertension, primary, 1 | GTTTTTAAAAAGGAGTTACAAACCAAAAATATAATAATAGTGGCTTTTATAGTTACCTAAGTAGGCTTTTGGGTTCTACTTATTATCTAATGTCCTTTGAGGGACTCCCTTTAACATTTCTTGTAGAGCATATCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGCCAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTCCAACATCCGCCTCCTGGGTTCAAGCAATTTTCCTGCCTCAGCATCCCAAATAGCAGATGTAGATATATACAAGTCTTTGTATAAACATATGGTTTC... | GTTTTTAAAAAGGAGTTACAAACCAAAAATATAATAATAGTGGCTTTTATAGTTACCTAAGTAGGCTTTTGGGTTCTACTTATTATCTAATGTCCTTTGAGGGACTCCCTTTAACATTTCTTGTAGAGCATATCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGCCAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTCCAACATCCGCCTCCTGGGTTCAAGCAATTTTCCTGCCTCAGCATCCCAAATAGCAGATGTAGATATATACAAGTCTTTGTATAAACATATGGTTTC... |
Task1_train_5372 | This mutation is located in gene BMPR2 (bone morphogenetic protein receptor type 2) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Primary pulmonary hypertension | TCACTGACACTAAGGTTTGTAGACTTCCTATCTAATGCTCTTTCTTATAGAATATACTACTACTACTTTTATATGAAAGCAATTCAAAGGTCTTTCTGTTCCATCATTAATATTATTTTACAAGACATTTTCTTTGTTAGAACTATGATTTTTGGTTCTAAATAGAAAGGCTTTTTAAAAATTCCTACAATTTGGAACTTTCTACATCTGTATTTCTTTTTTCCATGTTTGGGGTAAAAAAGCCTTTCTATGACTTTGTCATTTTGTCTAATACATGTTTAAAACTTTCAGAAAGGCATCCAGGAAAGGGTTACTGGAGA... | TCACTGACACTAAGGTTTGTAGACTTCCTATCTAATGCTCTTTCTTATAGAATATACTACTACTACTTTTATATGAAAGCAATTCAAAGGTCTTTCTGTTCCATCATTAATATTATTTTACAAGACATTTTCTTTGTTAGAACTATGATTTTTGGTTCTAAATAGAAAGGCTTTTTAAAAATTCCTACAATTTGGAACTTTCTACATCTGTATTTCTTTTTTCCATGTTTGGGGTAAAAAAGCCTTTCTATGACTTTGTCATTTTGTCTAATACATGTTTAAAACTTTCAGAAAGGCATCCAGGAAAGGGTTACTGGAGA... |
Task1_train_5373 | Located on Chromosome 2, this mutation impacts BMPR2 (bone morphogenetic protein receptor type 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Pulmonary venoocclusive disease 1 | TCACTGACACTAAGGTTTGTAGACTTCCTATCTAATGCTCTTTCTTATAGAATATACTACTACTACTTTTATATGAAAGCAATTCAAAGGTCTTTCTGTTCCATCATTAATATTATTTTACAAGACATTTTCTTTGTTAGAACTATGATTTTTGGTTCTAAATAGAAAGGCTTTTTAAAAATTCCTACAATTTGGAACTTTCTACATCTGTATTTCTTTTTTCCATGTTTGGGGTAAAAAAGCCTTTCTATGACTTTGTCATTTTGTCTAATACATGTTTAAAACTTTCAGAAAGGCATCCAGGAAAGGGTTACTGGAGA... | TCACTGACACTAAGGTTTGTAGACTTCCTATCTAATGCTCTTTCTTATAGAATATACTACTACTACTTTTATATGAAAGCAATTCAAAGGTCTTTCTGTTCCATCATTAATATTATTTTACAAGACATTTTCTTTGTTAGAACTATGATTTTTGGTTCTAAATAGAAAGGCTTTTTAAAAATTCCTACAATTTGGAACTTTCTACATCTGTATTTCTTTTTTCCATGTTTGGGGTAAAAAAGCCTTTCTATGACTTTGTCATTTTGTCTAATACATGTTTAAAACTTTCAGAAAGGCATCCAGGAAAGGGTTACTGGAGA... |
Task1_train_5374 | This variant impacts the gene BMPR2 (bone morphogenetic protein receptor type 2) on Chromosome 2. Is the change likely to result in a pathogenic outcome? | Pathogenic; Pulmonary hypertension, primary, 1 | TCACTGACACTAAGGTTTGTAGACTTCCTATCTAATGCTCTTTCTTATAGAATATACTACTACTACTTTTATATGAAAGCAATTCAAAGGTCTTTCTGTTCCATCATTAATATTATTTTACAAGACATTTTCTTTGTTAGAACTATGATTTTTGGTTCTAAATAGAAAGGCTTTTTAAAAATTCCTACAATTTGGAACTTTCTACATCTGTATTTCTTTTTTCCATGTTTGGGGTAAAAAAGCCTTTCTATGACTTTGTCATTTTGTCTAATACATGTTTAAAACTTTCAGAAAGGCATCCAGGAAAGGGTTACTGGAGA... | TCACTGACACTAAGGTTTGTAGACTTCCTATCTAATGCTCTTTCTTATAGAATATACTACTACTACTTTTATATGAAAGCAATTCAAAGGTCTTTCTGTTCCATCATTAATATTATTTTACAAGACATTTTCTTTGTTAGAACTATGATTTTTGGTTCTAAATAGAAAGGCTTTTTAAAAATTCCTACAATTTGGAACTTTCTACATCTGTATTTCTTTTTTCCATGTTTGGGGTAAAAAAGCCTTTCTATGACTTTGTCATTTTGTCTAATACATGTTTAAAACTTTCAGAAAGGCATCCAGGAAAGGGTTACTGGAGA... |
Task1_train_5375 | Here’s a variant in BMPR2 (bone morphogenetic protein receptor type 2) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Pulmonary hypertension, primary, 1 | CTCATCTCTGTATTTCCCATGTCCTCTAGTATGATGTTTTTACCTCTCTCAAAAGTCAGCTAAAGCTTTTATTTTGAATGCTTTCAAACTTTTCTTGAATGGTAAGAAAAAAAAACCTTGATGGCCCACCTTGATTTGGCCACTTTTCGCCTCCTGTGTCATTCGGCTCAACCTTCTGCATGCATCTTCTCATCTCCAGTCTCTACTAATAATTTCCTCAAAATTATAATTCATCCCATAGTTACGCTAACTCTAGGTTTTATTTTCCTGAGTCTTACCCTCCATGTCTCCTTAGCTTCCTTTTCTTGTACTGTATAACA... | CTCATCTCTGTATTTCCCATGTCCTCTAGTATGATGTTTTTACCTCTCTCAAAAGTCAGCTAAAGCTTTTATTTTGAATGCTTTCAAACTTTTCTTGAATGGTAAGAAAAAAAAACCTTGATGGCCCACCTTGATTTGGCCACTTTTCGCCTCCTGTGTCATTCGGCTCAACCTTCTGCATGCATCTTCTCATCTCCAGTCTCTACTAATAATTTCCTCAAAATTATAATTCATCCCATAGTTACGCTAACTCTAGGTTTTATTTTCCTGAGTCTTACCCTCCATGTCTCCTTAGCTTCCTTTTCTTGTACTGTATAACA... |
Task1_train_5376 | This sequence change occurs on Chromosome 2, altering BMPR2 (bone morphogenetic protein receptor type 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Pulmonary hypertension, primary, 1 | AAAAAAACCTTGATGGCCCACCTTGATTTGGCCACTTTTCGCCTCCTGTGTCATTCGGCTCAACCTTCTGCATGCATCTTCTCATCTCCAGTCTCTACTAATAATTTCCTCAAAATTATAATTCATCCCATAGTTACGCTAACTCTAGGTTTTATTTTCCTGAGTCTTACCCTCCATGTCTCCTTAGCTTCCTTTTCTTGTACTGTATAACAATTTTTTTTTCTTCTTTTCCTTCTATCATCTCCCTTATAAATAACTGTCACTCCCAAGGAATGACAATGACAGCAAAGAACCCATGATAATTGGAGAGCAGTTCTGAA... | AAAAAAACCTTGATGGCCCACCTTGATTTGGCCACTTTTCGCCTCCTGTGTCATTCGGCTCAACCTTCTGCATGCATCTTCTCATCTCCAGTCTCTACTAATAATTTCCTCAAAATTATAATTCATCCCATAGTTACGCTAACTCTAGGTTTTATTTTCCTGAGTCTTACCCTCCATGTCTCCTTAGCTTCCTTTTCTTGTACTGTATAACAATTTTTTTTTCTTCTTTTCCTTCTATCATCTCCCTTATAAATAACTGTCACTCCCAAGGAATGACAATGACAGCAAAGAACCCATGATAATTGGAGAGCAGTTCTGAA... |
Task1_train_5377 | Gene BMPR2 (bone morphogenetic protein receptor type 2), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Pulmonary hypertension, primary, 1 | AGAAAAAAGTAATATTTTTGTCATTGATAATTAAAAAGTCAGTGTCACAATAGTCAGAATAATTACCCAATTTAATATGTGCTTTATGTGGCTGCTGCTTTATAATGCAACTCACATACTTGCTATGAAAAGTTGAAATAAAGTAAATACAGTTCAAGAGCTCCAAGTAATGTTATACCAGTATAATCTTTGAAACATTTTATTGCATATATTAATATTGATTATGTCTGCATTTAGGTTTTATCAAACTAACCTTAATAAATCTTAAAGATCCAGAGAAATTTTGGGAAAATTACTATAAAGAAACTGTAGGCTAGGCA... | AGAAAAAAGTAATATTTTTGTCATTGATAATTAAAAAGTCAGTGTCACAATAGTCAGAATAATTACCCAATTTAATATGTGCTTTATGTGGCTGCTGCTTTATAATGCAACTCACATACTTGCTATGAAAAGTTGAAATAAAGTAAATACAGTTCAAGAGCTCCAAGTAATGTTATACCAGTATAATCTTTGAAACATTTTATTGCATATATTAATATTGATTATGTCTGCATTTAGGTTTTATCAAACTAACCTTAATAAATCTTAAAGATCCAGAGAAATTTTGGGAAAATTACTATAAAGAAACTGTAGGCTAGGCA... |
Task1_train_5378 | A mutation on Chromosome 2 affecting CTLA4 (cytotoxic T-lymphocyte associated protein 4) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | ATTGCCAAAAAAAAAAGACAAGGAAAAGGAAAGAAAGAAAGCCACCAGTCTGTTTGGCATACAATACTTAATTGTTGCCTGACCTACGTGTGGGTTTCAGATGCAGATCCTCAGTTTTCAGCTCTTCAGAGACTGACACCAGGTTTGTTACACGGCTTAAAATGATGAGTATATCCATTGAATCTCAACCTTATCTCTCTCTAGACCTTCTTGGTTAAGAAACCATGTAGTTTGTATGAAGTAGGTACTCAAAAGATATTTGATGATTTAATTTTTACTGGAGAAGAAATATTCATATATGTTTTCTTATTTTTACATGT... | ATTGCCAAAAAAAAAAGACAAGGAAAAGGAAAGAAAGAAAGCCACCAGTCTGTTTGGCATACAATACTTAATTGTTGCCTGACCTACGTGTGGGTTTCAGATGCAGATCCTCAGTTTTCAGCTCTTCAGAGACTGACACCAGGTTTGTTACACGGCTTAAAATGATGAGTATATCCATTGAATCTCAACCTTATCTCTCTCTAGACCTTCTTGGTTAAGAAACCATGTAGTTTGTATGAAGTAGGTACTCAAAAGATATTTGATGATTTAATTTTTACTGGAGAAGAAATATTCATATATGTTTTCTTATTTTTACATGT... |
Task1_train_5379 | A variant was discovered in gene CTLA4 (cytotoxic T-lymphocyte associated protein 4), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | CTTATCTCTCTCTAGACCTTCTTGGTTAAGAAACCATGTAGTTTGTATGAAGTAGGTACTCAAAAGATATTTGATGATTTAATTTTTACTGGAGAAGAAATATTCATATATGTTTTCTTATTTTTACATGTTTTAAATATGTAAAGATTAAATAAACACTCTTAGAAGTATTTAAATTTCCTAAAGTAAATTTATCTCAACCAGTAACAGGACCCTCCCAATACTGGAAAGTTGAGTGTGACCGCATTTAGTGGTGATGAGTGTGAGCTTGCTTGGGGAGAGGGCAGGACATTTAGGATTTCTTAAGCTTAGAGTCAATA... | CTTATCTCTCTCTAGACCTTCTTGGTTAAGAAACCATGTAGTTTGTATGAAGTAGGTACTCAAAAGATATTTGATGATTTAATTTTTACTGGAGAAGAAATATTCATATATGTTTTCTTATTTTTACATGTTTTAAATATGTAAAGATTAAATAAACACTCTTAGAAGTATTTAAATTTCCTAAAGTAAATTTATCTCAACCAGTAACAGGACCCTCCCAATACTGGAAAGTTGAGTGTGACCGCATTTAGTGGTGATGAGTGTGAGCTTGCTTGGGGAGAGGGCAGGACATTTAGGATTTCTTAAGCTTAGAGTCAATA... |
Task1_train_5380 | This genomic variant is located on Chromosome 2, within the NDUFS1 (NADH:ubiquinone oxidoreductase core subunit S1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 5 | GACTTATCTTTTCTGCACCTCTCCCTCCTCCCACTCTCCACTCTCAAGTAGACTACAGTGTCTGTTGTTTCCTTCTTTGTGTTCATAAGTTCGCAGATAAATACCATAGAAGTGATTTTTTGTTGTGCTTTTGAGCATAGGTATTATTTTACAATGAAGGTAATCTTTATTATCTAACTAAAATACTTATTTAAAAAATCTTAGATACAAACTATATAAAAAAATTAAGAGTTCTATGTGCTTTTAGATAGAAAATTAGTCAAAATAATCTATCAACTATTAACTACCTCATAACCTAGATGTTGTATCAACTGTTCTAA... | GACTTATCTTTTCTGCACCTCTCCCTCCTCCCACTCTCCACTCTCAAGTAGACTACAGTGTCTGTTGTTTCCTTCTTTGTGTTCATAAGTTCGCAGATAAATACCATAGAAGTGATTTTTTGTTGTGCTTTTGAGCATAGGTATTATTTTACAATGAAGGTAATCTTTATTATCTAACTAAAATACTTATTTAAAAAATCTTAGATACAAACTATATAAAAAAATTAAGAGTTCTATGTGCTTTTAGATAGAAAATTAGTCAAAATAATCTATCAACTATTAACTACCTCATAACCTAGATGTTGTATCAACTGTTCTAA... |
Task1_train_5381 | A mutation in NDUFS1 (NADH:ubiquinone oxidoreductase core subunit S1), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | TTACAACATGCCCAGGCACACTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCAGAAGTGGGCGGATCACCTGCAGTCAGGACTTTAAGACCAGCCTAGCCAACATGGTGAAATCCCATCTCTACTAATAATACAAAAATCAGCTGGGCATGGTGGCATACGCCTGTATCCCCAGCTGCTCGGGAGGATGAGGCAGGAGAACTGCTTGAACCAAGGAGGCAGAGGCTGCAGTGACCCGAGATCGAGATCGCGCCACCGCACTCCAGCCTGGGCGACAACAGCAAAACTCCATCTCAAAAACACAAAAAAAGTTGTAC... | TTACAACATGCCCAGGCACACTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCAGAAGTGGGCGGATCACCTGCAGTCAGGACTTTAAGACCAGCCTAGCCAACATGGTGAAATCCCATCTCTACTAATAATACAAAAATCAGCTGGGCATGGTGGCATACGCCTGTATCCCCAGCTGCTCGGGAGGATGAGGCAGGAGAACTGCTTGAACCAAGGAGGCAGAGGCTGCAGTGACCCGAGATCGAGATCGCGCCACCGCACTCCAGCCTGGGCGACAACAGCAAAACTCCATCTCAAAAACACAAAAAAAGTTGTAC... |
Task1_train_5382 | A mutation in FASTKD2 (FAST kinase domains 2), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Combined oxidative phosphorylation deficiency 44 | TTACGTTGCGATACACGATCAAACATCGCCCTTATAAGCTCTGTGGTATCCCCGAGCCCCACTCCTGTATGCAGGGAAATTAGTCATTCTCCTTGGTAAACTTTCTTCAAGTAAGTCCTTCAGCTACAGCCGCGAACATATGCTTTTTGACCTTTGAGGGAATCCGTAAGATCTCGTGAGAAGCGCAGCTTCTCGGGGAAGCTGTCATGGCTGCTCCTGTACGTAGTCACGGTCTTGTGCTCTAAGGTGAGTGGAGGACGAGCTTGGGCTTAGCGGCAGCCCGTATCACATCCTAGACTTTTTACTTCGAGGAGAAGAGT... | TTACGTTGCGATACACGATCAAACATCGCCCTTATAAGCTCTGTGGTATCCCCGAGCCCCACTCCTGTATGCAGGGAAATTAGTCATTCTCCTTGGTAAACTTTCTTCAAGTAAGTCCTTCAGCTACAGCCGCGAACATATGCTTTTTGACCTTTGAGGGAATCCGTAAGATCTCGTGAGAAGCGCAGCTTCTCGGGGAAGCTGTCATGGCTGCTCCTGTACGTAGTCACGGTCTTGTGCTCTAAGGTGAGTGGAGGACGAGCTTGGGCTTAGCGGCAGCCCGTATCACATCCTAGACTTTTTACTTCGAGGAGAAGAGT... |
Task1_train_5383 | With a mutation on Chromosome 2 in gene CRYGD, LOC100507443 (crystallin gamma D| uncharacterized LOC100507443), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Aculeiform cataract | TGGTGAAGAAATTGAGAAGGAAATCTCACTCTTTAATATATTCAGCTATTTCTTAGGATGAGCTGCCTCCTAGGCTCAGTATCCTGTACCACATGCAAATCCAAACCTGTAACAGCTTATTACTATTTTATACCATTTTGAAGAAATGTTTTAATATTAAAATAAACATTAAATTATAAAGAAATATATTTAAATAATGTATAATTTTAATATACATATGATATCTAATACATATTTAATTATATACTATATTTAAAATATATTATAAAATGTATAAAATTATATTTTATTTAAAGTTAATCATATTTTATTTTAATAAT... | TGGTGAAGAAATTGAGAAGGAAATCTCACTCTTTAATATATTCAGCTATTTCTTAGGATGAGCTGCCTCCTAGGCTCAGTATCCTGTACCACATGCAAATCCAAACCTGTAACAGCTTATTACTATTTTATACCATTTTGAAGAAATGTTTTAATATTAAAATAAACATTAAATTATAAAGAAATATATTTAAATAATGTATAATTTTAATATACATATGATATCTAATACATATTTAATTATATACTATATTTAAAATATATTATAAAATGTATAAAATTATATTTTATTTAAAGTTAATCATATTTTATTTTAATAAT... |
Task1_train_5384 | Assess the clinical impact of this variant on gene CRYGD, LOC100507443 (crystallin gamma D| uncharacterized LOC100507443), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Aculeiform cataract | TCCTAGGCTCAGTATCCTGTACCACATGCAAATCCAAACCTGTAACAGCTTATTACTATTTTATACCATTTTGAAGAAATGTTTTAATATTAAAATAAACATTAAATTATAAAGAAATATATTTAAATAATGTATAATTTTAATATACATATGATATCTAATACATATTTAATTATATACTATATTTAAAATATATTATAAAATGTATAAAATTATATTTTATTTAAAGTTAATCATATTTTATTTTAATAATTATATTCAAATTATATTTTATAAGTATAAATTAAAATTATATTTATTTTACAAATTATATTTTATTT... | TCCTAGGCTCAGTATCCTGTACCACATGCAAATCCAAACCTGTAACAGCTTATTACTATTTTATACCATTTTGAAGAAATGTTTTAATATTAAAATAAACATTAAATTATAAAGAAATATATTTAAATAATGTATAATTTTAATATACATATGATATCTAATACATATTTAATTATATACTATATTTAAAATATATTATAAAATGTATAAAATTATATTTTATTTAAAGTTAATCATATTTTATTTTAATAATTATATTCAAATTATATTTTATAAGTATAAATTAAAATTATATTTATTTTACAAATTATATTTTATTT... |
Task1_train_5385 | Consider this mutation in CRYGD, LOC100507443 (crystallin gamma D| uncharacterized LOC100507443) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Cataract 4 multiple types | CTGTAACAGCTTATTACTATTTTATACCATTTTGAAGAAATGTTTTAATATTAAAATAAACATTAAATTATAAAGAAATATATTTAAATAATGTATAATTTTAATATACATATGATATCTAATACATATTTAATTATATACTATATTTAAAATATATTATAAAATGTATAAAATTATATTTTATTTAAAGTTAATCATATTTTATTTTAATAATTATATTCAAATTATATTTTATAAGTATAAATTAAAATTATATTTATTTTACAAATTATATTTTATTTTAAAATAACTTTACTAAAATATAAATAAAATATATTTAA... | CTGTAACAGCTTATTACTATTTTATACCATTTTGAAGAAATGTTTTAATATTAAAATAAACATTAAATTATAAAGAAATATATTTAAATAATGTATAATTTTAATATACATATGATATCTAATACATATTTAATTATATACTATATTTAAAATATATTATAAAATGTATAAAATTATATTTTATTTAAAGTTAATCATATTTTATTTTAATAATTATATTCAAATTATATTTTATAAGTATAAATTAAAATTATATTTATTTTACAAATTATATTTTATTTTAAAATAACTTTACTAAAATATAAATAAAATATATTTAA... |
Task1_train_5386 | This variant impacts the gene CRYGD, LOC100507443 (crystallin gamma D| uncharacterized LOC100507443) on Chromosome 2. Is the change likely to result in a pathogenic outcome? | Pathogenic; Aculeiform cataract | CATTTTGAAGAAATGTTTTAATATTAAAATAAACATTAAATTATAAAGAAATATATTTAAATAATGTATAATTTTAATATACATATGATATCTAATACATATTTAATTATATACTATATTTAAAATATATTATAAAATGTATAAAATTATATTTTATTTAAAGTTAATCATATTTTATTTTAATAATTATATTCAAATTATATTTTATAAGTATAAATTAAAATTATATTTATTTTACAAATTATATTTTATTTTAAAATAACTTTACTAAAATATAAATAAAATATATTTAAAATACAGAAATATAAGGGGTGGGGCAG... | CATTTTGAAGAAATGTTTTAATATTAAAATAAACATTAAATTATAAAGAAATATATTTAAATAATGTATAATTTTAATATACATATGATATCTAATACATATTTAATTATATACTATATTTAAAATATATTATAAAATGTATAAAATTATATTTTATTTAAAGTTAATCATATTTTATTTTAATAATTATATTCAAATTATATTTTATAAGTATAAATTAAAATTATATTTATTTTACAAATTATATTTTATTTTAAAATAACTTTACTAAAATATAAATAAAATATATTTAAAATACAGAAATATAAGGGGTGGGGCAG... |
Task1_train_5387 | A variant was discovered on Chromosome 2, affecting CRYGC, LOC100507443 (crystallin gamma C| uncharacterized LOC100507443). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Developmental cataract | CTGTGAGGTCGAGGCTGCAGTGAGCTGGGTTTGTGCCACTGCACTCCATCCTGGACAACAGAGTGTGACCATGTCTCAAAAAATAAATAAATAAAATAAAATAAACTTGCACTATGAGCCGGTAGTCTCACTTCTAGGTCGCTATCTTTTTAAAATTATGGCATGTCAGGATTAGCGTATATGTACAATGTTATTCTTTGCAGCATTGTTGGTAAAAGCAACATTGGAAAAGCCCAGTCACTTAAGTGGACAAATGGTGAAATGGTCTAAGGGACCTCCAAACAATGGGATGCAATTCAACCATCAAACAGAATAAGATA... | CTGTGAGGTCGAGGCTGCAGTGAGCTGGGTTTGTGCCACTGCACTCCATCCTGGACAACAGAGTGTGACCATGTCTCAAAAAATAAATAAATAAAATAAAATAAACTTGCACTATGAGCCGGTAGTCTCACTTCTAGGTCGCTATCTTTTTAAAATTATGGCATGTCAGGATTAGCGTATATGTACAATGTTATTCTTTGCAGCATTGTTGGTAAAAGCAACATTGGAAAAGCCCAGTCACTTAAGTGGACAAATGGTGAAATGGTCTAAGGGACCTCCAAACAATGGGATGCAATTCAACCATCAAACAGAATAAGATA... |
Task1_train_5388 | Gene CRYGC, LOC100507443 (crystallin gamma C| uncharacterized LOC100507443), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Cataract 2, multiple types | CTGTGAGGTCGAGGCTGCAGTGAGCTGGGTTTGTGCCACTGCACTCCATCCTGGACAACAGAGTGTGACCATGTCTCAAAAAATAAATAAATAAAATAAAATAAACTTGCACTATGAGCCGGTAGTCTCACTTCTAGGTCGCTATCTTTTTAAAATTATGGCATGTCAGGATTAGCGTATATGTACAATGTTATTCTTTGCAGCATTGTTGGTAAAAGCAACATTGGAAAAGCCCAGTCACTTAAGTGGACAAATGGTGAAATGGTCTAAGGGACCTCCAAACAATGGGATGCAATTCAACCATCAAACAGAATAAGATA... | CTGTGAGGTCGAGGCTGCAGTGAGCTGGGTTTGTGCCACTGCACTCCATCCTGGACAACAGAGTGTGACCATGTCTCAAAAAATAAATAAATAAAATAAAATAAACTTGCACTATGAGCCGGTAGTCTCACTTCTAGGTCGCTATCTTTTTAAAATTATGGCATGTCAGGATTAGCGTATATGTACAATGTTATTCTTTGCAGCATTGTTGGTAAAAGCAACATTGGAAAAGCCCAGTCACTTAAGTGGACAAATGGTGAAATGGTCTAAGGGACCTCCAAACAATGGGATGCAATTCAACCATCAAACAGAATAAGATA... |
Task1_train_5389 | A variant affecting Chromosome 2, within the gene CRYGC, LOC100507443 (crystallin gamma C| uncharacterized LOC100507443), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Cataract 2, multiple types | TATGAGCCGGTAGTCTCACTTCTAGGTCGCTATCTTTTTAAAATTATGGCATGTCAGGATTAGCGTATATGTACAATGTTATTCTTTGCAGCATTGTTGGTAAAAGCAACATTGGAAAAGCCCAGTCACTTAAGTGGACAAATGGTGAAATGGTCTAAGGGACCTCCAAACAATGGGATGCAATTCAACCATCAAACAGAATAAGATACTGACCTAGATATATGTCCATATTATAATACATTTTAAAAGCAAGTTGCAGACTAATATGTATAGCATGATTCCATTTTTGTAAAGAAAAGAAGCATGTGTTTTATAAGAGA... | TATGAGCCGGTAGTCTCACTTCTAGGTCGCTATCTTTTTAAAATTATGGCATGTCAGGATTAGCGTATATGTACAATGTTATTCTTTGCAGCATTGTTGGTAAAAGCAACATTGGAAAAGCCCAGTCACTTAAGTGGACAAATGGTGAAATGGTCTAAGGGACCTCCAAACAATGGGATGCAATTCAACCATCAAACAGAATAAGATACTGACCTAGATATATGTCCATATTATAATACATTTTAAAAGCAAGTTGCAGACTAATATGTATAGCATGATTCCATTTTTGTAAAGAAAAGAAGCATGTGTTTTATAAGAGA... |
Task1_train_5390 | Here’s a variant in CRYGC, LOC100507443 (crystallin gamma C| uncharacterized LOC100507443) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Nuclear pulverulent cataract | TACACTTCTGGACAGGAGTCATTTTCAAAAGAAGATGAATAGTCTTTAACTTTGTTCAAAGGTACGGCAATGGCTGCGGTGGCCCTGGCATTAGTTATATAATACTGTGTCTGAAAGTAAACAAAACTACAATCCTTTATATAGTCTAATCAGGCTGTTGGCCAAGTTAAGTTTGCCCTCTCCACTCATCTGACTTTGCCTTTTGTCTAACCCATTTTTGGTTAGAAGGAAACTTCCCAACTATTGTTCCTCAAGGTGCTTAGTTGAATGCCTCCCTTCTCACCAGTCAGCCTCTCCCAGGTCTCTGGCATTGCCCTGCG... | TACACTTCTGGACAGGAGTCATTTTCAAAAGAAGATGAATAGTCTTTAACTTTGTTCAAAGGTACGGCAATGGCTGCGGTGGCCCTGGCATTAGTTATATAATACTGTGTCTGAAAGTAAACAAAACTACAATCCTTTATATAGTCTAATCAGGCTGTTGGCCAAGTTAAGTTTGCCCTCTCCACTCATCTGACTTTGCCTTTTGTCTAACCCATTTTTGGTTAGAAGGAAACTTCCCAACTATTGTTCCTCAAGGTGCTTAGTTGAATGCCTCCCTTCTCACCAGTCAGCCTCTCCCAGGTCTCTGGCATTGCCCTGCG... |
Task1_train_5391 | A sequence alteration has been identified in PIKFYVE (phosphoinositide kinase, FYVE-type zinc finger containing) on Chromosome 2. Is it disease-inducing or harmless? | Pathogenic; Fleck corneal dystrophy | TCTGATGATATTTTAATATGTCCAGATACTGCATTTTACCAGGTGTAATATTTCTGATTTATCTTACTTAGGAAAGGGAATTCTTGAAGAATTATGTCCAGCGAATAGTTGATGTTCGACCCACCTTGGTTCTTGTTGAGAAAACAGTGTCTCGGATTGCCCAGGACATGTTATTGGAACATGGCATTACTTTGGTCATTAATGTAAAGTCAGTGAGTGTTTTTAATTTTCTATTGTATTTTAAAAAAATCACAGCTTTTAAATTTATATGCACGTATGGTAGGTATACAAGAATCTTTTTTTCTTTGCTGTTCTATTTG... | TCTGATGATATTTTAATATGTCCAGATACTGCATTTTACCAGGTGTAATATTTCTGATTTATCTTACTTAGGAAAGGGAATTCTTGAAGAATTATGTCCAGCGAATAGTTGATGTTCGACCCACCTTGGTTCTTGTTGAGAAAACAGTGTCTCGGATTGCCCAGGACATGTTATTGGAACATGGCATTACTTTGGTCATTAATGTAAAGTCAGTGAGTGTTTTTAATTTTCTATTGTATTTTAAAAAAATCACAGCTTTTAAATTTATATGCACGTATGGTAGGTATACAAGAATCTTTTTTTCTTTGCTGTTCTATTTG... |
Task1_train_5392 | The gene CPS1 (carbamoyl-phosphate synthase 1) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Congenital hyperammonemia, type I | TTGCCCTGTTTCCCAGGCTAGTCTTGACTTCCTGGGCTCAAGCAATTCCCCCCTATCTTGAGCTTCCCTATGTGCTAGGATCACCGGCATGAGCCACCAAGCCCGGCCCCAAAGAAATTTTTGCTCAGCATTATTTATTTTAAATGTTTACAAATTTTTCCTTCCCTTTAAGGAATGGTTAGTCAAGAGAAAGTCTAGCAAAATTATACTTTGGCAAAGAAACATGTTATTAAATTCATCATTCTTGTGTCTCTTTTCCAGCGAGGAGCTGAAGTGCACTTAGTTCCCTGGAACCATGATTTCACCAAGATGGAGTATGA... | TTGCCCTGTTTCCCAGGCTAGTCTTGACTTCCTGGGCTCAAGCAATTCCCCCCTATCTTGAGCTTCCCTATGTGCTAGGATCACCGGCATGAGCCACCAAGCCCGGCCCCAAAGAAATTTTTGCTCAGCATTATTTATTTTAAATGTTTACAAATTTTTCCTTCCCTTTAAGGAATGGTTAGTCAAGAGAAAGTCTAGCAAAATTATACTTTGGCAAAGAAACATGTTATTAAATTCATCATTCTTGTGTCTCTTTTCCAGCGAGGAGCTGAAGTGCACTTAGTTCCCTGGAACCATGATTTCACCAAGATGGAGTATGA... |
Task1_train_5393 | This variant affects gene CPS1 (carbamoyl-phosphate synthase 1) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Pulmonary hypertension, neonatal, susceptibility to | TGAATCATAACATTTGAATTAGAGCCCTAATATTGCCACTTATTAGCTATGTGACCTTTAGCAAACCATTTAACCTTACTGAATCTCAATTTCTTCATCCAAAAGGTTGAAATCTCTTTCATAGTCTTGGTATAAAAATCAAATACATTACTAAAAAGTACATTACAAGCATTAAGTCACTATTTGAATTTAAAGCAGCATAAAATATATTTAATGTTTTATTCAGATCCTCCCCAAAGATATGTGGGGTTTTCAATAATAATTTCTATACTTTTATCTGAATATTTTGTTGACTTTTTAGGAGAATTTAAAATTGACAT... | TGAATCATAACATTTGAATTAGAGCCCTAATATTGCCACTTATTAGCTATGTGACCTTTAGCAAACCATTTAACCTTACTGAATCTCAATTTCTTCATCCAAAAGGTTGAAATCTCTTTCATAGTCTTGGTATAAAAATCAAATACATTACTAAAAAGTACATTACAAGCATTAAGTCACTATTTGAATTTAAAGCAGCATAAAATATATTTAATGTTTTATTCAGATCCTCCCCAAAGATATGTGGGGTTTTCAATAATAATTTCTATACTTTTATCTGAATATTTTGTTGACTTTTTAGGAGAATTTAAAATTGACAT... |
Task1_train_5394 | A variant was discovered on Chromosome 2, affecting CPS1 (carbamoyl-phosphate synthase 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Congenital hyperammonemia, type I | TGAATCATAACATTTGAATTAGAGCCCTAATATTGCCACTTATTAGCTATGTGACCTTTAGCAAACCATTTAACCTTACTGAATCTCAATTTCTTCATCCAAAAGGTTGAAATCTCTTTCATAGTCTTGGTATAAAAATCAAATACATTACTAAAAAGTACATTACAAGCATTAAGTCACTATTTGAATTTAAAGCAGCATAAAATATATTTAATGTTTTATTCAGATCCTCCCCAAAGATATGTGGGGTTTTCAATAATAATTTCTATACTTTTATCTGAATATTTTGTTGACTTTTTAGGAGAATTTAAAATTGACAT... | TGAATCATAACATTTGAATTAGAGCCCTAATATTGCCACTTATTAGCTATGTGACCTTTAGCAAACCATTTAACCTTACTGAATCTCAATTTCTTCATCCAAAAGGTTGAAATCTCTTTCATAGTCTTGGTATAAAAATCAAATACATTACTAAAAAGTACATTACAAGCATTAAGTCACTATTTGAATTTAAAGCAGCATAAAATATATTTAATGTTTTATTCAGATCCTCCCCAAAGATATGTGGGGTTTTCAATAATAATTTCTATACTTTTATCTGAATATTTTGTTGACTTTTTAGGAGAATTTAAAATTGACAT... |
Task1_train_5395 | Here is a mutation in CPS1 (carbamoyl-phosphate synthase 1) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | AGAATGATTACACGTGCAGCCAAGAAACCTGTGTAACTTACATGGCAGTCATAGAAGTGAATTTGACAGAATTACTGTAAGGGCTATTTTGGGAATTATTTAGGAAATAGCTCACGGACAGCTTATTGCTTCATCTTTACTTACTTTTTGAACTGAAGTGAAATGAGACCCTTGAATTGTTGACATAGAATTTTGAAAACAGATAAGTACAATTCAGCATATTTAAATAACTACAATGGCAGACTTACATATAAACAACTTGGGTTTCGTTTTTCTAAAGTTGTGAAAATTACAAAAAAGGGAAACATACCTCACATAAA... | AGAATGATTACACGTGCAGCCAAGAAACCTGTGTAACTTACATGGCAGTCATAGAAGTGAATTTGACAGAATTACTGTAAGGGCTATTTTGGGAATTATTTAGGAAATAGCTCACGGACAGCTTATTGCTTCATCTTTACTTACTTTTTGAACTGAAGTGAAATGAGACCCTTGAATTGTTGACATAGAATTTTGAAAACAGATAAGTACAATTCAGCATATTTAAATAACTACAATGGCAGACTTACATATAAACAACTTGGGTTTCGTTTTTCTAAAGTTGTGAAAATTACAAAAAAGGGAAACATACCTCACATAAA... |
Task1_train_5396 | Gene CPS1 (carbamoyl-phosphate synthase 1), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Congenital hyperammonemia, type I | TCATACTTTTTAGTGTACAAAAGAAATAGAACGCAAATACCATGAAAATCTATGTTGCTAGTGTTTGCACCAAATAAACAACTGTTATTTAGTTTACATTTCATGGGAAGGGTCCTTTTTAAATAATGTTCACCATAAAATTGGTAGTTCAAGGAACTTGAGAAAATTATGTAATATTTTCATTTGGGGCTTCTTATCTGAGGGATTTTGTTGTCAAACAAAAAATAAAAGGTAGGGGGGAGTTTTGTTGTCTAACACCTTACATTTAGTTCAAAAAGTGAGCAAACATTTCCTGAGTTCTTACTAAACGCAAGACACTG... | TCATACTTTTTAGTGTACAAAAGAAATAGAACGCAAATACCATGAAAATCTATGTTGCTAGTGTTTGCACCAAATAAACAACTGTTATTTAGTTTACATTTCATGGGAAGGGTCCTTTTTAAATAATGTTCACCATAAAATTGGTAGTTCAAGGAACTTGAGAAAATTATGTAATATTTTCATTTGGGGCTTCTTATCTGAGGGATTTTGTTGTCAAACAAAAAATAAAAGGTAGGGGGGAGTTTTGTTGTCTAACACCTTACATTTAGTTCAAAAAGTGAGCAAACATTTCCTGAGTTCTTACTAAACGCAAGACACTG... |
Task1_train_5397 | Given a variant located on Chromosome 2 and affecting CPS1 (carbamoyl-phosphate synthase 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Pulmonary hypertension, neonatal, susceptibility to | TCATACTTTTTAGTGTACAAAAGAAATAGAACGCAAATACCATGAAAATCTATGTTGCTAGTGTTTGCACCAAATAAACAACTGTTATTTAGTTTACATTTCATGGGAAGGGTCCTTTTTAAATAATGTTCACCATAAAATTGGTAGTTCAAGGAACTTGAGAAAATTATGTAATATTTTCATTTGGGGCTTCTTATCTGAGGGATTTTGTTGTCAAACAAAAAATAAAAGGTAGGGGGGAGTTTTGTTGTCTAACACCTTACATTTAGTTCAAAAAGTGAGCAAACATTTCCTGAGTTCTTACTAAACGCAAGACACTG... | TCATACTTTTTAGTGTACAAAAGAAATAGAACGCAAATACCATGAAAATCTATGTTGCTAGTGTTTGCACCAAATAAACAACTGTTATTTAGTTTACATTTCATGGGAAGGGTCCTTTTTAAATAATGTTCACCATAAAATTGGTAGTTCAAGGAACTTGAGAAAATTATGTAATATTTTCATTTGGGGCTTCTTATCTGAGGGATTTTGTTGTCAAACAAAAAATAAAAGGTAGGGGGGAGTTTTGTTGTCTAACACCTTACATTTAGTTCAAAAAGTGAGCAAACATTTCCTGAGTTCTTACTAAACGCAAGACACTG... |
Task1_train_5398 | This variant lies on Chromosome 2 and affects the gene CPS1 (carbamoyl-phosphate synthase 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not specified | TCATACTTTTTAGTGTACAAAAGAAATAGAACGCAAATACCATGAAAATCTATGTTGCTAGTGTTTGCACCAAATAAACAACTGTTATTTAGTTTACATTTCATGGGAAGGGTCCTTTTTAAATAATGTTCACCATAAAATTGGTAGTTCAAGGAACTTGAGAAAATTATGTAATATTTTCATTTGGGGCTTCTTATCTGAGGGATTTTGTTGTCAAACAAAAAATAAAAGGTAGGGGGGAGTTTTGTTGTCTAACACCTTACATTTAGTTCAAAAAGTGAGCAAACATTTCCTGAGTTCTTACTAAACGCAAGACACTG... | TCATACTTTTTAGTGTACAAAAGAAATAGAACGCAAATACCATGAAAATCTATGTTGCTAGTGTTTGCACCAAATAAACAACTGTTATTTAGTTTACATTTCATGGGAAGGGTCCTTTTTAAATAATGTTCACCATAAAATTGGTAGTTCAAGGAACTTGAGAAAATTATGTAATATTTTCATTTGGGGCTTCTTATCTGAGGGATTTTGTTGTCAAACAAAAAATAAAAGGTAGGGGGGAGTTTTGTTGTCTAACACCTTACATTTAGTTCAAAAAGTGAGCAAACATTTCCTGAGTTCTTACTAAACGCAAGACACTG... |
Task1_train_5399 | A sequence alteration has been identified in CPS1 (carbamoyl-phosphate synthase 1) on Chromosome 2. Is it disease-inducing or harmless? | Pathogenic; Congenital hyperammonemia, type I | TGGTAGTTCAAGGAACTTGAGAAAATTATGTAATATTTTCATTTGGGGCTTCTTATCTGAGGGATTTTGTTGTCAAACAAAAAATAAAAGGTAGGGGGGAGTTTTGTTGTCTAACACCTTACATTTAGTTCAAAAAGTGAGCAAACATTTCCTGAGTTCTTACTAAACGCAAGACACTGGGAGGATTTAAAAAAGGAATAGATTATAGATAATTGAGATACATTGTCTGCAGTTGGTAAATTCAGAATACCTAAACTGACCCGAATAGACAATGAATTATTAATCTCTGGTAAATATTAAAAGATAGTACTTATATATAG... | TGGTAGTTCAAGGAACTTGAGAAAATTATGTAATATTTTCATTTGGGGCTTCTTATCTGAGGGATTTTGTTGTCAAACAAAAAATAAAAGGTAGGGGGGAGTTTTGTTGTCTAACACCTTACATTTAGTTCAAAAAGTGAGCAAACATTTCCTGAGTTCTTACTAAACGCAAGACACTGGGAGGATTTAAAAAAGGAATAGATTATAGATAATTGAGATACATTGTCTGCAGTTGGTAAATTCAGAATACCTAAACTGACCCGAATAGACAATGAATTATTAATCTCTGGTAAATATTAAAAGATAGTACTTATATATAG... |
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