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_15200 | A variant has been detected on Chromosome 11 in HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; beta Thalassemia | GACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGG... | GACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGG... |
Task1_train_15201 | A genomic change on Chromosome 11 affects HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hb SS disease | GACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGG... | GACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGG... |
Task1_train_15202 | This gene mutation involves HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; Beta-thalassemia HBB/LCRB | GACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGG... | GACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGG... |
Task1_train_15203 | Gene HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Heinz body anemia | GACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGG... | GACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGG... |
Task1_train_15204 | The variant affects gene HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Malaria, susceptibility to | GACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGG... | GACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGG... |
Task1_train_15205 | This alteration occurs within gene HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; Dominant beta-thalassemia | GACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGG... | GACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGG... |
Task1_train_15206 | The gene HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Hereditary persistence of fetal hemoglobin | GACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGG... | GACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGG... |
Task1_train_15207 | A variant found in Chromosome 11 affects HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Erythrocytosis, familial, 6 | GACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGG... | GACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGG... |
Task1_train_15208 | A variant has been detected on Chromosome 11 in HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; METHEMOGLOBINEMIA, BETA TYPE | GACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGG... | GACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGG... |
Task1_train_15209 | This alteration in HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hb SS disease | GACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGG... | GACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGG... |
Task1_train_15210 | A variant was discovered in gene HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Dominant beta-thalassemia | ACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGG... | ACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGG... |
Task1_train_15211 | This gene mutation involves HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; Hereditary persistence of fetal hemoglobin | ACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGG... | ACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGG... |
Task1_train_15212 | Here is a genetic alteration in HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Heinz body anemia | ACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGG... | ACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGG... |
Task1_train_15213 | A variant affecting Chromosome 11, within the gene HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hb SS disease | ACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGG... | ACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGG... |
Task1_train_15214 | Gene HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Erythrocytosis, familial, 6 | ACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGG... | ACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGG... |
Task1_train_15215 | An alteration has been detected in HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Malaria, susceptibility to | ACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGG... | ACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGG... |
Task1_train_15216 | A genetic alteration is present in HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; METHEMOGLOBINEMIA, BETA TYPE | ACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGG... | ACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGG... |
Task1_train_15217 | Here’s a variant in HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Beta-thalassemia HBB/LCRB | ACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGG... | ACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGG... |
Task1_train_15218 | Consider a variant on Chromosome 11 in gene HBB, LOC106099062, LOC107133510 (hemoglobin subunit beta| HBB recombination region| origin of replication at HBB). Determine its clinical classification and disease relevance. | Pathogenic; Hemoglobinopathy | ACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGG... | ACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGG... |
Task1_train_15219 | Here is a variant affecting HBD, LOC106099063 (hemoglobin subunit delta| HBD recombination region) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; delta Thalassemia | GTGGCTGGGGTCAAGAGAGGTCACAAGTAATACGTGAGCAATGAATCTTGACTGAAATATGGGAAGATAAGAGGAAATTCTTTACAGAGATGTTCTGGGGCAAGTAAGAGGAGGAAGCTATTTCTTGGAGCAGGAACACTTGATGGGGTATAGTATTATGGGCTACAATGTGCAGGCAAAGGAAGGAGGAAGAAAGACAACATAACATTGTCTTGAGTAATCATTATGCCTTTAATTGAGCACATTATTTTCTCAGTAATTGTTGGAGTTTAATCGTAGCATTACCCTTGAGGCTATGTCTTAGGGTTGAGGTCTTCCCT... | GTGGCTGGGGTCAAGAGAGGTCACAAGTAATACGTGAGCAATGAATCTTGACTGAAATATGGGAAGATAAGAGGAAATTCTTTACAGAGATGTTCTGGGGCAAGTAAGAGGAGGAAGCTATTTCTTGGAGCAGGAACACTTGATGGGGTATAGTATTATGGGCTACAATGTGCAGGCAAAGGAAGGAGGAAGAAAGACAACATAACATTGTCTTGAGTAATCATTATGCCTTTAATTGAGCACATTATTTTCTCAGTAATTGTTGGAGTTTAATCGTAGCATTACCCTTGAGGCTATGTCTTAGGGTTGAGGTCTTCCCT... |
Task1_train_15220 | A variant was discovered on Chromosome 11, affecting HBG2, LOC106099065 (hemoglobin subunit gamma 2| HBG2 recombination region). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | CACATTAAACTAAACTCTTGCTTATTAACGTGCATTAACTTTCAATTATATAAGAACTCCAGTGAATCTGCCTTCTCAATTAATGTTATACAAATTCTTCACACTATATTTTCATCTGACCGTGCTGTTCTGCTGCTGAGACATGACACGCTGATGCTGACTTGTGAGCTTCTGCTGGCTCATTTCCTTCACCTAAGTCCCCACCTCCCTAGAAGCTTACAATGAGGTCTCCTCCTTGAAATGCTGTGACCAGTCTGTAGACTTAAGGGTATGGGATTAATTTCACCTCTTTAGGCATGCGTCAACACTTAAAATGAAAA... | CACATTAAACTAAACTCTTGCTTATTAACGTGCATTAACTTTCAATTATATAAGAACTCCAGTGAATCTGCCTTCTCAATTAATGTTATACAAATTCTTCACACTATATTTTCATCTGACCGTGCTGTTCTGCTGCTGAGACATGACACGCTGATGCTGACTTGTGAGCTTCTGCTGGCTCATTTCCTTCACCTAAGTCCCCACCTCCCTAGAAGCTTACAATGAGGTCTCCTCCTTGAAATGCTGTGACCAGTCTGTAGACTTAAGGGTATGGGATTAATTTCACCTCTTTAGGCATGCGTCAACACTTAAAATGAAAA... |
Task1_train_15221 | A variant on Chromosome 11 in gene HBG2, LOC106099065 (hemoglobin subunit gamma 2| HBG2 recombination region) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Cyanosis, transient neonatal | TCAATTAATGTTATACAAATTCTTCACACTATATTTTCATCTGACCGTGCTGTTCTGCTGCTGAGACATGACACGCTGATGCTGACTTGTGAGCTTCTGCTGGCTCATTTCCTTCACCTAAGTCCCCACCTCCCTAGAAGCTTACAATGAGGTCTCCTCCTTGAAATGCTGTGACCAGTCTGTAGACTTAAGGGTATGGGATTAATTTCACCTCTTTAGGCATGCGTCAACACTTAAAATGAAAAGTTCCTTAGTAAAGTAAGGATCACTTCATTGTAGTTACCGTGGAAAGAAAAACCTGTTTCCTGCTCTGATCTCTA... | TCAATTAATGTTATACAAATTCTTCACACTATATTTTCATCTGACCGTGCTGTTCTGCTGCTGAGACATGACACGCTGATGCTGACTTGTGAGCTTCTGCTGGCTCATTTCCTTCACCTAAGTCCCCACCTCCCTAGAAGCTTACAATGAGGTCTCCTCCTTGAAATGCTGTGACCAGTCTGTAGACTTAAGGGTATGGGATTAATTTCACCTCTTTAGGCATGCGTCAACACTTAAAATGAAAAGTTCCTTAGTAAAGTAAGGATCACTTCATTGTAGTTACCGTGGAAAGAAAAACCTGTTTCCTGCTCTGATCTCTA... |
Task1_train_15222 | Here’s a variant in HBG2, LOC106099065 (hemoglobin subunit gamma 2| HBG2 recombination region) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Cyanosis, transient neonatal | TATACAAATTCTTCACACTATATTTTCATCTGACCGTGCTGTTCTGCTGCTGAGACATGACACGCTGATGCTGACTTGTGAGCTTCTGCTGGCTCATTTCCTTCACCTAAGTCCCCACCTCCCTAGAAGCTTACAATGAGGTCTCCTCCTTGAAATGCTGTGACCAGTCTGTAGACTTAAGGGTATGGGATTAATTTCACCTCTTTAGGCATGCGTCAACACTTAAAATGAAAAGTTCCTTAGTAAAGTAAGGATCACTTCATTGTAGTTACCGTGGAAAGAAAAACCTGTTTCCTGCTCTGATCTCTAACACCTCAACC... | TATACAAATTCTTCACACTATATTTTCATCTGACCGTGCTGTTCTGCTGCTGAGACATGACACGCTGATGCTGACTTGTGAGCTTCTGCTGGCTCATTTCCTTCACCTAAGTCCCCACCTCCCTAGAAGCTTACAATGAGGTCTCCTCCTTGAAATGCTGTGACCAGTCTGTAGACTTAAGGGTATGGGATTAATTTCACCTCTTTAGGCATGCGTCAACACTTAAAATGAAAAGTTCCTTAGTAAAGTAAGGATCACTTCATTGTAGTTACCGTGGAAAGAAAAACCTGTTTCCTGCTCTGATCTCTAACACCTCAACC... |
Task1_train_15223 | A mutation on Chromosome 11 affecting HBG2, LOC106099065 (hemoglobin subunit gamma 2| HBG2 recombination region) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | ATACAAATTCTTCACACTATATTTTCATCTGACCGTGCTGTTCTGCTGCTGAGACATGACACGCTGATGCTGACTTGTGAGCTTCTGCTGGCTCATTTCCTTCACCTAAGTCCCCACCTCCCTAGAAGCTTACAATGAGGTCTCCTCCTTGAAATGCTGTGACCAGTCTGTAGACTTAAGGGTATGGGATTAATTTCACCTCTTTAGGCATGCGTCAACACTTAAAATGAAAAGTTCCTTAGTAAAGTAAGGATCACTTCATTGTAGTTACCGTGGAAAGAAAAACCTGTTTCCTGCTCTGATCTCTAACACCTCAACCT... | ATACAAATTCTTCACACTATATTTTCATCTGACCGTGCTGTTCTGCTGCTGAGACATGACACGCTGATGCTGACTTGTGAGCTTCTGCTGGCTCATTTCCTTCACCTAAGTCCCCACCTCCCTAGAAGCTTACAATGAGGTCTCCTCCTTGAAATGCTGTGACCAGTCTGTAGACTTAAGGGTATGGGATTAATTTCACCTCTTTAGGCATGCGTCAACACTTAAAATGAAAAGTTCCTTAGTAAAGTAAGGATCACTTCATTGTAGTTACCGTGGAAAGAAAAACCTGTTTCCTGCTCTGATCTCTAACACCTCAACCT... |
Task1_train_15224 | A variant has been detected on Chromosome 11 in HBG2, LOC106099065 (hemoglobin subunit gamma 2| HBG2 recombination region). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | GATGCTGACTTGTGAGCTTCTGCTGGCTCATTTCCTTCACCTAAGTCCCCACCTCCCTAGAAGCTTACAATGAGGTCTCCTCCTTGAAATGCTGTGACCAGTCTGTAGACTTAAGGGTATGGGATTAATTTCACCTCTTTAGGCATGCGTCAACACTTAAAATGAAAAGTTCCTTAGTAAAGTAAGGATCACTTCATTGTAGTTACCGTGGAAAGAAAAACCTGTTTCCTGCTCTGATCTCTAACACCTCAACCTCCCTGTAGAGCCTCACAAGGGCTGAGAAAAGCCAGATGCCGTTGGAAATAGTATTGCCCCTAATA... | GATGCTGACTTGTGAGCTTCTGCTGGCTCATTTCCTTCACCTAAGTCCCCACCTCCCTAGAAGCTTACAATGAGGTCTCCTCCTTGAAATGCTGTGACCAGTCTGTAGACTTAAGGGTATGGGATTAATTTCACCTCTTTAGGCATGCGTCAACACTTAAAATGAAAAGTTCCTTAGTAAAGTAAGGATCACTTCATTGTAGTTACCGTGGAAAGAAAAACCTGTTTCCTGCTCTGATCTCTAACACCTCAACCTCCCTGTAGAGCCTCACAAGGGCTGAGAAAAGCCAGATGCCGTTGGAAATAGTATTGCCCCTAATA... |
Task1_train_15225 | A variant was discovered on Chromosome 11, affecting HBG2, LOC106099065 (hemoglobin subunit gamma 2| HBG2 recombination region). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Cyanosis, transient neonatal | TGAAAAGTTCCTTAGTAAAGTAAGGATCACTTCATTGTAGTTACCGTGGAAAGAAAAACCTGTTTCCTGCTCTGATCTCTAACACCTCAACCTCCCTGTAGAGCCTCACAAGGGCTGAGAAAAGCCAGATGCCGTTGGAAATAGTATTGCCCCTAATAAAATAGAATGGCTATCCCTGCCTAAACCTTGACTTCCTAAAGCTTGGAACACTTTTTCTTCGTTGAGCCCCTTCCTCGCTGCTGTGCTGCAATCCAGGGAAGGGGGTTCAGCCCCCTTCACTGAACCTTTCCCCATCTCTTCCAAAACATCTGTTTCTGAGG... | TGAAAAGTTCCTTAGTAAAGTAAGGATCACTTCATTGTAGTTACCGTGGAAAGAAAAACCTGTTTCCTGCTCTGATCTCTAACACCTCAACCTCCCTGTAGAGCCTCACAAGGGCTGAGAAAAGCCAGATGCCGTTGGAAATAGTATTGCCCCTAATAAAATAGAATGGCTATCCCTGCCTAAACCTTGACTTCCTAAAGCTTGGAACACTTTTTCTTCGTTGAGCCCCTTCCTCGCTGCTGTGCTGCAATCCAGGGAAGGGGGTTCAGCCCCCTTCACTGAACCTTTCCCCATCTCTTCCAAAACATCTGTTTCTGAGG... |
Task1_train_15226 | Assess the clinical impact of this variant on gene SMPD1 (sphingomyelin phosphodiesterase 1), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Niemann-Pick disease, type A | AGGGAGGGGAAGAAAAAAACCGTTGTTCCTTTTGATGGGTCTGGACGCTAGGTAACGGCTTTGGGAGAGAGGGCGCGGGAGTAGGAAGGCCAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTT... | AGGGAGGGGAAGAAAAAAACCGTTGTTCCTTTTGATGGGTCTGGACGCTAGGTAACGGCTTTGGGAGAGAGGGCGCGGGAGTAGGAAGGCCAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTT... |
Task1_train_15227 | This variant affects gene SMPD1 (sphingomyelin phosphodiesterase 1) located on Chromosome 11. Evaluate its biological effect and specify any disease association. | Pathogenic; Niemann-Pick disease, type B | AGGGAGGGGAAGAAAAAAACCGTTGTTCCTTTTGATGGGTCTGGACGCTAGGTAACGGCTTTGGGAGAGAGGGCGCGGGAGTAGGAAGGCCAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTT... | AGGGAGGGGAAGAAAAAAACCGTTGTTCCTTTTGATGGGTCTGGACGCTAGGTAACGGCTTTGGGAGAGAGGGCGCGGGAGTAGGAAGGCCAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTT... |
Task1_train_15228 | This variant lies on Chromosome 11 and affects the gene SMPD1 (sphingomyelin phosphodiesterase 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Sphingomyelin/cholesterol lipidosis | AGGGAGGGGAAGAAAAAAACCGTTGTTCCTTTTGATGGGTCTGGACGCTAGGTAACGGCTTTGGGAGAGAGGGCGCGGGAGTAGGAAGGCCAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTT... | AGGGAGGGGAAGAAAAAAACCGTTGTTCCTTTTGATGGGTCTGGACGCTAGGTAACGGCTTTGGGAGAGAGGGCGCGGGAGTAGGAAGGCCAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTT... |
Task1_train_15229 | This alteration in SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Niemann-Pick disease, type B | AGGGAGGGGAAGAAAAAAACCGTTGTTCCTTTTGATGGGTCTGGACGCTAGGTAACGGCTTTGGGAGAGAGGGCGCGGGAGTAGGAAGGCCAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTT... | AGGGAGGGGAAGAAAAAAACCGTTGTTCCTTTTGATGGGTCTGGACGCTAGGTAACGGCTTTGGGAGAGAGGGCGCGGGAGTAGGAAGGCCAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTT... |
Task1_train_15230 | Assess the clinical impact of this variant on gene SMPD1 (sphingomyelin phosphodiesterase 1), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Niemann-Pick disease, type A | AGGGAGGGGAAGAAAAAAACCGTTGTTCCTTTTGATGGGTCTGGACGCTAGGTAACGGCTTTGGGAGAGAGGGCGCGGGAGTAGGAAGGCCAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTT... | AGGGAGGGGAAGAAAAAAACCGTTGTTCCTTTTGATGGGTCTGGACGCTAGGTAACGGCTTTGGGAGAGAGGGCGCGGGAGTAGGAAGGCCAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTT... |
Task1_train_15231 | Chromosome 11 houses a mutation in gene SMPD1 (sphingomyelin phosphodiesterase 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Niemann-Pick disease, type A | CAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTG... | CAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTG... |
Task1_train_15232 | This variant lies on Chromosome 11 and affects the gene SMPD1 (sphingomyelin phosphodiesterase 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Acid sphingomyelinase deficiency | CTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAG... | CTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAG... |
Task1_train_15233 | A change on Chromosome 11 affects gene SMPD1 (sphingomyelin phosphodiesterase 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Niemann-Pick disease, type B | CTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAG... | CTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAG... |
Task1_train_15234 | An alteration has been detected in SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Sphingomyelin/cholesterol lipidosis | CTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAG... | CTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAG... |
Task1_train_15235 | This sequence variant lies in SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Niemann-Pick disease, type B | TGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGA... | TGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGA... |
Task1_train_15236 | The gene SMPD1 (sphingomyelin phosphodiesterase 1), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Niemann-Pick disease, type A | TGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGA... | TGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGA... |
Task1_train_15237 | An alteration has been detected in SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Sphingomyelin/cholesterol lipidosis | ATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTG... | ATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTG... |
Task1_train_15238 | This sequence change occurs on Chromosome 11, altering SMPD1 (sphingomyelin phosphodiesterase 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Niemann-Pick disease, type A | ATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTG... | ATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTG... |
Task1_train_15239 | With a mutation on Chromosome 11 in gene SMPD1 (sphingomyelin phosphodiesterase 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Niemann-Pick disease, type B | ATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTG... | ATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTG... |
Task1_train_15240 | Located on Chromosome 11, this mutation impacts SMPD1 (sphingomyelin phosphodiesterase 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Intellectual disability | ATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTG... | ATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTG... |
Task1_train_15241 | A change on Chromosome 11 affects gene SMPD1 (sphingomyelin phosphodiesterase 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Niemann-Pick disease, type B | ACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGA... | ACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGA... |
Task1_train_15242 | A change on Chromosome 11 affects gene SMPD1 (sphingomyelin phosphodiesterase 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Niemann-Pick disease, type A | ACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGA... | ACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGA... |
Task1_train_15243 | Consider a variant on Chromosome 11 in gene SMPD1 (sphingomyelin phosphodiesterase 1). Determine its clinical classification and disease relevance. | Pathogenic; Niemann-Pick disease, type A | ACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGA... | ACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGA... |
Task1_train_15244 | Located on Chromosome 11, this mutation impacts SMPD1 (sphingomyelin phosphodiesterase 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Niemann-Pick disease, type B | GGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAG... | GGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAG... |
Task1_train_15245 | Here is a mutation in SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Niemann-Pick disease, type A | GGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAG... | GGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAG... |
Task1_train_15246 | An alteration has been detected in SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Niemann-Pick disease, type B | GGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAG... | GGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAG... |
Task1_train_15247 | Located on Chromosome 11, this mutation impacts SMPD1 (sphingomyelin phosphodiesterase 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Niemann-Pick disease, type A | GGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCC... | GGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCC... |
Task1_train_15248 | Here is a mutation in SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Niemann-Pick disease, type A | GGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCC... | GGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCC... |
Task1_train_15249 | A variant found in Chromosome 11 affects SMPD1 (sphingomyelin phosphodiesterase 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Niemann-Pick disease, type B | GGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCC... | GGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCC... |
Task1_train_15250 | A mutation in SMPD1 (sphingomyelin phosphodiesterase 1), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not specified | GGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCC... | GGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCC... |
Task1_train_15251 | A variant was discovered in gene SMPD1 (sphingomyelin phosphodiesterase 1), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Sphingomyelin/cholesterol lipidosis | GGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCC... | GGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCC... |
Task1_train_15252 | Chromosome 11 houses a mutation in gene SMPD1 (sphingomyelin phosphodiesterase 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Inborn genetic diseases | GGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCC... | GGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCC... |
Task1_train_15253 | This genomic variant is located on Chromosome 11, within the SMPD1 (sphingomyelin phosphodiesterase 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Niemann-Pick disease, type A | AATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCA... | AATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCA... |
Task1_train_15254 | With a mutation on Chromosome 11 in gene SMPD1 (sphingomyelin phosphodiesterase 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Niemann-Pick disease, type B | TTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCC... | TTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCC... |
Task1_train_15255 | Assess the clinical impact of this variant on gene SMPD1 (sphingomyelin phosphodiesterase 1), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Niemann-Pick disease, type A | TTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCC... | TTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCC... |
Task1_train_15256 | The variant affects gene SMPD1 (sphingomyelin phosphodiesterase 1), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Niemann-Pick disease, type A | CTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGAT... | CTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGAT... |
Task1_train_15257 | A variant has been detected on Chromosome 11 in SMPD1 (sphingomyelin phosphodiesterase 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Niemann-Pick disease, type B | CTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGAT... | CTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGAT... |
Task1_train_15258 | Gene SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Niemann-Pick disease, type A | ACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAG... | ACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAG... |
Task1_train_15259 | This alteration in SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Niemann-Pick disease, type B | ACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAG... | ACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAG... |
Task1_train_15260 | Gene SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Niemann-Pick disease, type A | ACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAG... | ACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAG... |
Task1_train_15261 | This mutation is located in gene SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Niemann-Pick disease, type B | ACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAG... | ACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGTCCCGGGAGCGCCCCGCCCCCTCCGCCTCCGCAGCGTTGACAGCCGCCCGCCACCGAGAGATCAGCTGTCAGAG... |
Task1_train_15262 | This is a variant in SMPD1 (sphingomyelin phosphodiesterase 1), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; Niemann-Pick disease, type B | AAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGA... | AAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGA... |
Task1_train_15263 | Consider this mutation in SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; Niemann-Pick disease, type A | AAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGA... | AAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGA... |
Task1_train_15264 | This genomic variant is located on Chromosome 11, within the SMPD1 (sphingomyelin phosphodiesterase 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Niemann-Pick disease, type A | AAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGA... | AAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGA... |
Task1_train_15265 | An alteration has been detected in SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Niemann-Pick disease, type A | TGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAG... | TGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAG... |
Task1_train_15266 | This is a variant in SMPD1 (sphingomyelin phosphodiesterase 1), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; Niemann-Pick disease, type B | TGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAG... | TGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAG... |
Task1_train_15267 | Consider this mutation in SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; Sphingomyelin/cholesterol lipidosis | GCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCT... | GCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCT... |
Task1_train_15268 | Given this variant in gene SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Niemann-Pick disease, type A | GGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGT... | GGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGT... |
Task1_train_15269 | A sequence alteration has been identified in SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11. Is it disease-inducing or harmless? | Pathogenic; Niemann-Pick disease, type B | GGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGT... | GGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGT... |
Task1_train_15270 | This mutation occurs in SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Niemann-Pick disease, type A | GGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGT... | GGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGT... |
Task1_train_15271 | The gene SMPD1 (sphingomyelin phosphodiesterase 1) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Sphingomyelin/cholesterol lipidosis | CACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCAC... | CACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCAC... |
Task1_train_15272 | A variant on Chromosome 11 in gene SMPD1 (sphingomyelin phosphodiesterase 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Niemann-Pick disease, type A | CACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCAC... | CACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCAC... |
Task1_train_15273 | This variant impacts the gene SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11. Is the change likely to result in a pathogenic outcome? | Pathogenic; Niemann-Pick disease, type A | CACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCAC... | CACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCAC... |
Task1_train_15274 | The gene SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Niemann-Pick disease, type B | CACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCAC... | CACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGCCTGCTCCTGGGCTCCACCTGTGGGCAC... |
Task1_train_15275 | Given a variant located on Chromosome 11 and affecting SMPD1 (sphingomyelin phosphodiesterase 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Sphingomyelin/cholesterol lipidosis | CTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGT... | CTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGT... |
Task1_train_15276 | This alteration in SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Niemann-Pick disease, type A | CTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGT... | CTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGT... |
Task1_train_15277 | Given this variant in gene SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Niemann-Pick disease, type B | CTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGT... | CTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGT... |
Task1_train_15278 | Given this variant in gene SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Niemann-Pick disease, type A | CTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGT... | CTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGT... |
Task1_train_15279 | A mutation found in SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Niemann-Pick disease, type B | CTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGT... | CTGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGT... |
Task1_train_15280 | The variant affects gene SMPD1 (sphingomyelin phosphodiesterase 1), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Sphingomyelin/cholesterol lipidosis | TGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTA... | TGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTA... |
Task1_train_15281 | A mutation found in SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Niemann-Pick disease, type B | TGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTA... | TGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTA... |
Task1_train_15282 | Mutation context: Chromosome 11, Gene SMPD1 (sphingomyelin phosphodiesterase 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Niemann-Pick disease, type A | TGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTA... | TGGGACATTTTCTCATCTTGGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTA... |
Task1_train_15283 | The gene SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Niemann-Pick disease, type B | AGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGT... | AGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGT... |
Task1_train_15284 | Here’s a variant in SMPD1 (sphingomyelin phosphodiesterase 1) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Niemann-Pick disease, type B | CCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGC... | CCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGC... |
Task1_train_15285 | Here is a variant affecting SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Niemann-Pick disease, type A | CCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGC... | CCTAGCCCCCCAGCCCCAGGTGCCCCTGTCAGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGACCCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGC... |
Task1_train_15286 | A variant has been detected on Chromosome 11 in SMPD1 (sphingomyelin phosphodiesterase 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Niemann-Pick disease, type A | CACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCA... | CACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCA... |
Task1_train_15287 | Here’s a variant in SMPD1 (sphingomyelin phosphodiesterase 1) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Niemann-Pick disease, type B | CACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCA... | CACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCA... |
Task1_train_15288 | This gene mutation involves SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; Niemann-Pick disease, type A | CACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCA... | CACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCA... |
Task1_train_15289 | Chromosome 11 houses a mutation in gene SMPD1 (sphingomyelin phosphodiesterase 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Niemann-Pick disease, type B | TGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTG... | TGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTG... |
Task1_train_15290 | This mutation occurs in SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Niemann-Pick disease, type A | TGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTG... | TGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTG... |
Task1_train_15291 | This sequence change occurs on Chromosome 11, altering SMPD1 (sphingomyelin phosphodiesterase 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Niemann-Pick disease, type A | TTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGC... | TTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGC... |
Task1_train_15292 | A variant was discovered in gene SMPD1 (sphingomyelin phosphodiesterase 1), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Niemann-Pick disease, type B | TTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCC... | TTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCC... |
Task1_train_15293 | Assess the clinical impact of this variant on gene SMPD1 (sphingomyelin phosphodiesterase 1), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Niemann-Pick disease, type A | TTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCC... | TTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCC... |
Task1_train_15294 | A genomic change on Chromosome 11 affects SMPD1 (sphingomyelin phosphodiesterase 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Niemann-Pick disease, type A | TTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCC... | TTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCC... |
Task1_train_15295 | A genetic alteration is present in SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Niemann-Pick disease, type A | TTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCC... | TTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCC... |
Task1_train_15296 | This mutation occurs in SMPD1 (sphingomyelin phosphodiesterase 1) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Niemann-Pick disease, type B | TTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCC... | TTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCC... |
Task1_train_15297 | A change on Chromosome 11 affects gene SMPD1 (sphingomyelin phosphodiesterase 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not specified | TTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCC... | TTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCC... |
Task1_train_15298 | A variant has been detected on Chromosome 11 in SMPD1 (sphingomyelin phosphodiesterase 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Niemann-Pick disease, type A | TTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGC... | TTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGC... |
Task1_train_15299 | The gene DNHD1 (dynein heavy chain domain 1) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Spermatogenic failure 65 | TGTAGAAACAAGGTCTTGCTATGTTACCCAGGCTGGTCTTGAACTCCTGGCCTCAAGAAATCTTTCCATCTCAGCCTCCAAAAGTGTTGATTACAGGAGTGAGCCACCACCTCCCAGCCTAAAGTTGATTTTTTTTTAAGTGCACATGTGATATAACTGTATTCTCTTTGACTGAAATGATTGCGCTTTCCTGCTAATTGTGATCGATCTGGTTTCTATCCTTCTCAGCTTCCAAATCTTATTATTCATTAACCTTCAGTTAATGATTATTCATTATTATCATTATTAACCTTCGGTTAATGAATAATAAGTCACAGAGG... | TGTAGAAACAAGGTCTTGCTATGTTACCCAGGCTGGTCTTGAACTCCTGGCCTCAAGAAATCTTTCCATCTCAGCCTCCAAAAGTGTTGATTACAGGAGTGAGCCACCACCTCCCAGCCTAAAGTTGATTTTTTTTTAAGTGCACATGTGATATAACTGTATTCTCTTTGACTGAAATGATTGCGCTTTCCTGCTAATTGTGATCGATCTGGTTTCTATCCTTCTCAGCTTCCAAATCTTATTATTCATTAACCTTCAGTTAATGATTATTCATTATTATCATTATTAACCTTCGGTTAATGAATAATAAGTCACAGAGG... |
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