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_13800 | Chromosome 10 houses a mutation in gene RET (ret proto-oncogene). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Multiple endocrine neoplasia type 2A | ACTCTGGACTTGGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCT... | ACTCTGGACTTGGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCT... |
Task1_train_13801 | Here is a variant affecting RET (ret proto-oncogene) on Chromosome 10. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hereditary cancer-predisposing syndrome | TCTGGACTTGGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCC... | TCTGGACTTGGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCC... |
Task1_train_13802 | A variant was discovered on Chromosome 10, affecting RET (ret proto-oncogene). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Multiple endocrine neoplasia, type 2 | TCTGGACTTGGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCC... | TCTGGACTTGGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCC... |
Task1_train_13803 | A variant affecting Chromosome 10, within the gene RET (ret proto-oncogene), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Multiple endocrine neoplasia, type 2 | GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAG... | GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAG... |
Task1_train_13804 | This is a variant in RET (ret proto-oncogene), located on Chromosome 10. Is this mutation a likely cause of disease or not? | Pathogenic; Hereditary cancer-predisposing syndrome | GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAG... | GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAG... |
Task1_train_13805 | This variant affects the gene RET (ret proto-oncogene) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hirschsprung disease, susceptibility to, 1 | GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAG... | GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAG... |
Task1_train_13806 | This variant impacts the gene RET (ret proto-oncogene) on Chromosome 10. Is the change likely to result in a pathogenic outcome? | Pathogenic; Thyroid gland carcinoma | GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAG... | GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAG... |
Task1_train_13807 | Given this context: Chromosome 10, gene RET (ret proto-oncogene) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Multiple endocrine neoplasia type 2A | GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAG... | GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAG... |
Task1_train_13808 | Here is a genetic alteration in RET (ret proto-oncogene) on Chromosome 10. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Pheochromocytoma | GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAG... | GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAG... |
Task1_train_13809 | Given this variant in gene RET (ret proto-oncogene) on Chromosome 10, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Multiple endocrine neoplasia type 2B | GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAG... | GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAG... |
Task1_train_13810 | A genomic change on Chromosome 10 affects RET (ret proto-oncogene). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hereditary cancer-predisposing syndrome | GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAG... | GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAG... |
Task1_train_13811 | Here is a mutation in RET (ret proto-oncogene) on Chromosome 10. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Multiple endocrine neoplasia type 2A | GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAG... | GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAG... |
Task1_train_13812 | Given a variant located on Chromosome 10 and affecting RET (ret proto-oncogene), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Multiple endocrine neoplasia, type 2 | GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAG... | GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAG... |
Task1_train_13813 | This alteration occurs within gene RET (ret proto-oncogene) located on Chromosome 10. Is it associated with a disease or is it a benign variant? | Pathogenic; Hereditary cancer-predisposing syndrome | GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAG... | GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAG... |
Task1_train_13814 | Chromosome 10 houses a mutation in gene RET (ret proto-oncogene). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Familial medullary thyroid carcinoma | GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAG... | GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAG... |
Task1_train_13815 | This mutation occurs in RET (ret proto-oncogene) on Chromosome 10. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Multiple endocrine neoplasia, type 2 | GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAG... | GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAG... |
Task1_train_13816 | With a mutation on Chromosome 10 in gene RET (ret proto-oncogene), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; MEN2 phenotype: Unclassified | GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAG... | GGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAG... |
Task1_train_13817 | The gene RET (ret proto-oncogene) on Chromosome 10 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Hirschsprung disease, susceptibility to, 1 | GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGG... | GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGG... |
Task1_train_13818 | This genomic variant is located on Chromosome 10, within the RET (ret proto-oncogene) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Multiple endocrine neoplasia type 2B | GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGG... | GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGG... |
Task1_train_13819 | The variant affects gene RET (ret proto-oncogene), which is on Chromosome 10. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Multiple endocrine neoplasia type 2A | GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGG... | GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGG... |
Task1_train_13820 | A variant was discovered on Chromosome 10, affecting RET (ret proto-oncogene). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Multiple endocrine neoplasia type 2A | GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGG... | GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGG... |
Task1_train_13821 | A mutation in RET (ret proto-oncogene), located on Chromosome 10, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hirschsprung disease, susceptibility to, 1 | GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGG... | GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGG... |
Task1_train_13822 | A variant found in Chromosome 10 affects RET (ret proto-oncogene). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Pheochromocytoma | GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGG... | GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGG... |
Task1_train_13823 | This genomic variant is located on Chromosome 10, within the RET (ret proto-oncogene) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Multiple endocrine neoplasia type 2B | GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGG... | GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGG... |
Task1_train_13824 | A genetic alteration is present in RET (ret proto-oncogene) on Chromosome 10. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Familial medullary thyroid carcinoma | GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGG... | GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGG... |
Task1_train_13825 | Given this variant in gene RET (ret proto-oncogene) on Chromosome 10, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hereditary cancer-predisposing syndrome | GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGG... | GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGG... |
Task1_train_13826 | This sequence variant lies in RET (ret proto-oncogene) on Chromosome 10. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Multiple endocrine neoplasia, type 2 | GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGG... | GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGG... |
Task1_train_13827 | This genomic variant is located on Chromosome 10, within the RET (ret proto-oncogene) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Hereditary cancer-predisposing syndrome | GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGG... | GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGG... |
Task1_train_13828 | This variant impacts the gene RET (ret proto-oncogene) on Chromosome 10. Is the change likely to result in a pathogenic outcome? | Pathogenic; Multiple endocrine neoplasia type 2B | GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGG... | GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGG... |
Task1_train_13829 | This gene mutation involves RET (ret proto-oncogene) on Chromosome 10. Is it associated with any clinical condition, or is it benign? | Pathogenic; Multiple endocrine neoplasia, type 2 | GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGG... | GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGG... |
Task1_train_13830 | Gene RET (ret proto-oncogene), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Hereditary cancer-predisposing syndrome | GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGG... | GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGG... |
Task1_train_13831 | Here’s a variant in RET (ret proto-oncogene) located on Chromosome 10. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Multiple endocrine neoplasia type 2A | GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGG... | GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGG... |
Task1_train_13832 | Assess the clinical impact of this variant on gene RET (ret proto-oncogene), found on Chromosome 10. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Multiple endocrine neoplasia, type 2 | GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGG... | GGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGG... |
Task1_train_13833 | Given a variant located on Chromosome 10 and affecting RET (ret proto-oncogene), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Multiple endocrine neoplasia type 2A | GAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGG... | GAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGG... |
Task1_train_13834 | A variant has been detected on Chromosome 10 in RET (ret proto-oncogene). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hereditary cancer-predisposing syndrome | GAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGG... | GAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGG... |
Task1_train_13835 | Given this variant in gene RET (ret proto-oncogene) on Chromosome 10, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Multiple endocrine neoplasia, type 2 | GAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGG... | GAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGG... |
Task1_train_13836 | This sequence change occurs on Chromosome 10, altering RET (ret proto-oncogene). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Multiple endocrine neoplasia type 2A | TTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGA... | TTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGA... |
Task1_train_13837 | This mutation is located in gene RET (ret proto-oncogene) on Chromosome 10. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hereditary cancer-predisposing syndrome | AAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCCCCCCTCTTCTCCCCCTTCCCTCATTTCCAACATAGGAGGATCCAAAGTGGGAATTCCCTCGGAAGAACTTGGTTCTTGGAAAAACTCTAGGAGAAGGCGAATTTGGAAAAGTGGT... | AAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCCCCCCTCTTCTCCCCCTTCCCTCATTTCCAACATAGGAGGATCCAAAGTGGGAATTCCCTCGGAAGAACTTGGTTCTTGGAAAAACTCTAGGAGAAGGCGAATTTGGAAAAGTGGT... |
Task1_train_13838 | Here is a genetic alteration in RET (ret proto-oncogene) on Chromosome 10. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Multiple endocrine neoplasia, type 2 | AAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCCCCCCTCTTCTCCCCCTTCCCTCATTTCCAACATAGGAGGATCCAAAGTGGGAATTCCCTCGGAAGAACTTGGTTCTTGGAAAAACTCTAGGAGAAGGCGAATTTGGAAAAGTGGT... | AAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCCCCCCTCTTCTCCCCCTTCCCTCATTTCCAACATAGGAGGATCCAAAGTGGGAATTCCCTCGGAAGAACTTGGTTCTTGGAAAAACTCTAGGAGAAGGCGAATTTGGAAAAGTGGT... |
Task1_train_13839 | This mutation is located in gene RET (ret proto-oncogene) on Chromosome 10. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hereditary cancer-predisposing syndrome | CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAAT... | CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAAT... |
Task1_train_13840 | A mutation on Chromosome 10 affecting RET (ret proto-oncogene) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; MEN2 phenotype: Unclassified | CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAAT... | CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAAT... |
Task1_train_13841 | A mutation found in RET (ret proto-oncogene) on Chromosome 10 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Multiple endocrine neoplasia type 2A | CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAAT... | CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAAT... |
Task1_train_13842 | The gene RET (ret proto-oncogene) on Chromosome 10 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Multiple endocrine neoplasia, type 2 | CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAAT... | CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAAT... |
Task1_train_13843 | A genetic alteration is present in RET (ret proto-oncogene) on Chromosome 10. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Multiple endocrine neoplasia type 2A | CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAAT... | CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAAT... |
Task1_train_13844 | The variant affects gene RET (ret proto-oncogene), which is on Chromosome 10. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Multiple endocrine neoplasia, type 2 | CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAAT... | CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAAT... |
Task1_train_13845 | A variant found in Chromosome 10 affects RET (ret proto-oncogene). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Multiple endocrine neoplasia | CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAAT... | CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAAT... |
Task1_train_13846 | Located on Chromosome 10, this mutation impacts RET (ret proto-oncogene). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Familial medullary thyroid carcinoma | CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAAT... | CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAAT... |
Task1_train_13847 | Gene RET (ret proto-oncogene), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Hereditary cancer-predisposing syndrome | CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAAT... | CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAAT... |
Task1_train_13848 | This sequence change occurs on Chromosome 10, altering RET (ret proto-oncogene). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Multiple endocrine neoplasia type 2A | CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAAT... | CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAAT... |
Task1_train_13849 | Here’s a variant in RET (ret proto-oncogene) located on Chromosome 10. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hirschsprung disease, susceptibility to, 1 | CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAAT... | CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAAT... |
Task1_train_13850 | A mutation in RET (ret proto-oncogene), located on Chromosome 10, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Pheochromocytoma | CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAAT... | CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAAT... |
Task1_train_13851 | This is a variant in RET (ret proto-oncogene), located on Chromosome 10. Is this mutation a likely cause of disease or not? | Pathogenic; Multiple endocrine neoplasia type 2B | CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAAT... | CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAAT... |
Task1_train_13852 | This variant impacts the gene RET (ret proto-oncogene) on Chromosome 10. Is the change likely to result in a pathogenic outcome? | Pathogenic; Familial medullary thyroid carcinoma | CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAAT... | CCCTTCCAGACAACCTTTCAGGACAGAGGAGGTGGCACGGCACAGCTGGGCAGTGGGACAGCTGACCTGGGAGGGATGGCTTAGCCATGTGTTCTGACTCTTGGAATACCTTCAGGCCCAGGCACCTGCTGGGCATTCCAGCACAGCTCTGGCCACCATCGGGACGCATGTGCTGGGCAGGTGATCCCTGTGGTGCCTCGTCCTGTTTCCATCATGCCTCTACAGTTAGACTCTCTGGGGAATCATGCTATTCATTAAGAATAAGCCAGAATGTCAGGTGTGCAGTGCACTGGTAACACTGCTTTATCTCAGGTGCTAAT... |
Task1_train_13853 | A mutation in RET (ret proto-oncogene), located on Chromosome 10, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hirschsprung disease, susceptibility to, 1 | ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTT... | ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTT... |
Task1_train_13854 | This genomic variant is located on Chromosome 10, within the RET (ret proto-oncogene) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Multiple endocrine neoplasia II | ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTT... | ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTT... |
Task1_train_13855 | Here’s a variant in RET (ret proto-oncogene) located on Chromosome 10. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Medullary thyroid carcinoma | ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTT... | ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTT... |
Task1_train_13856 | This sequence change occurs on Chromosome 10, altering RET (ret proto-oncogene). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Multiple endocrine neoplasia, type 2 | ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTT... | ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTT... |
Task1_train_13857 | A sequence alteration has been identified in RET (ret proto-oncogene) on Chromosome 10. Is it disease-inducing or harmless? | Pathogenic; Multiple endocrine neoplasia type 2B | ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTT... | ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTT... |
Task1_train_13858 | A variant on Chromosome 10 in gene RET (ret proto-oncogene) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Multiple endocrine neoplasia type 2A | ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTT... | ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTT... |
Task1_train_13859 | The following genetic variant occurs in RET (ret proto-oncogene) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hereditary cancer-predisposing syndrome | ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTT... | ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTT... |
Task1_train_13860 | This is a variant in RET (ret proto-oncogene), located on Chromosome 10. Is this mutation a likely cause of disease or not? | Pathogenic; Familial medullary thyroid carcinoma | ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTT... | ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTT... |
Task1_train_13861 | Gene RET (ret proto-oncogene) on Chromosome 10 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; MEN2 phenotype: Unclassified | ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTT... | ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTT... |
Task1_train_13862 | This variant lies on Chromosome 10 and affects the gene RET (ret proto-oncogene). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Multiple endocrine neoplasia type 2A | ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTT... | ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTT... |
Task1_train_13863 | Consider this mutation in RET (ret proto-oncogene) on Chromosome 10. Is this a benign change or a disease-causing variant? | Pathogenic; Hirschsprung disease, susceptibility to, 1 | ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTT... | ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTT... |
Task1_train_13864 | This variant affects the gene RET (ret proto-oncogene) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Pheochromocytoma | ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTT... | ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTT... |
Task1_train_13865 | This mutation occurs in RET (ret proto-oncogene) on Chromosome 10. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Multiple endocrine neoplasia type 2B | ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTT... | ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTT... |
Task1_train_13866 | A sequence alteration has been identified in RET (ret proto-oncogene) on Chromosome 10. Is it disease-inducing or harmless? | Pathogenic; Familial medullary thyroid carcinoma | ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTT... | ACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTT... |
Task1_train_13867 | This sequence variant lies in GDF2 (growth differentiation factor 2) on Chromosome 10. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 5 | CAAGTTTTCTATACTATAGACTACTGTTATAACAGGGGAAAAAAATGTCACATTTAAAAAATAACGTCAGGTAGCAGCCCCTTGCTCCTCCCTGAGCACATCCAGGCCACTAGGCTATCCCTCTGCTCAGCCTCTCGTGTGTGAAAAGCTCCTGGCCAGACCATGTTGCAGGCATCTGCCCTGTCCTCACTCCTCCCGGACCACACCTCACTCCGCATTTGCAGCTCCATTTCTTGGGCATGGCACCCATTTATTCATCTTTTCTCTGCCCCATGGAATTCTTGCACTGAGCTGGATCAAAGCCCAGCACACTTCCAGTC... | CAAGTTTTCTATACTATAGACTACTGTTATAACAGGGGAAAAAAATGTCACATTTAAAAAATAACGTCAGGTAGCAGCCCCTTGCTCCTCCCTGAGCACATCCAGGCCACTAGGCTATCCCTCTGCTCAGCCTCTCGTGTGTGAAAAGCTCCTGGCCAGACCATGTTGCAGGCATCTGCCCTGTCCTCACTCCTCCCGGACCACACCTCACTCCGCATTTGCAGCTCCATTTCTTGGGCATGGCACCCATTTATTCATCTTTTCTCTGCCCCATGGAATTCTTGCACTGAGCTGGATCAAAGCCCAGCACACTTCCAGTC... |
Task1_train_13868 | A sequence alteration has been identified in GDF2 (growth differentiation factor 2) on Chromosome 10. Is it disease-inducing or harmless? | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 5 | ATTTAAAAAATAACGTCAGGTAGCAGCCCCTTGCTCCTCCCTGAGCACATCCAGGCCACTAGGCTATCCCTCTGCTCAGCCTCTCGTGTGTGAAAAGCTCCTGGCCAGACCATGTTGCAGGCATCTGCCCTGTCCTCACTCCTCCCGGACCACACCTCACTCCGCATTTGCAGCTCCATTTCTTGGGCATGGCACCCATTTATTCATCTTTTCTCTGCCCCATGGAATTCTTGCACTGAGCTGGATCAAAGCCCAGCACACTTCCAGTCCTCTTCCCAAGCAGCATTTCTGAAGCAGCACGCTTCCCGTCTTCCCCTGGC... | ATTTAAAAAATAACGTCAGGTAGCAGCCCCTTGCTCCTCCCTGAGCACATCCAGGCCACTAGGCTATCCCTCTGCTCAGCCTCTCGTGTGTGAAAAGCTCCTGGCCAGACCATGTTGCAGGCATCTGCCCTGTCCTCACTCCTCCCGGACCACACCTCACTCCGCATTTGCAGCTCCATTTCTTGGGCATGGCACCCATTTATTCATCTTTTCTCTGCCCCATGGAATTCTTGCACTGAGCTGGATCAAAGCCCAGCACACTTCCAGTCCTCTTCCCAAGCAGCATTTCTGAAGCAGCACGCTTCCCGTCTTCCCCTGGC... |
Task1_train_13869 | An alteration has been detected in RBP3 (retinol binding protein 3) on Chromosome 10. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Retinitis pigmentosa | TAATGAGCTAAAAATATGTTTGTTTTAGCTAATTGACCTCTTTGGCCTTCATAAAGCAGTTGGTAAACATCCTCAGATAATGATTTCCAAAGAGCAGATTGTGGGTCTCAGCTGTGTAGAGAAAGCCCACGTCCCTGAGACCACCTTCTCCAGCTGCCTACTGAGGCACACAGGGGCGCCTGCCTGCTGCCCGCTCAGCCAAGGCGGTGTTGCTGGAGCCAGCTTGGGACAGCTCTCCCAACGCTCTGCCCTGGCCTTGCGACCACTCTCTGGGCCGTAGTTGTCTGTCTGTTAAGTGAGGAAAGTGCCCATCTCCAGAG... | TAATGAGCTAAAAATATGTTTGTTTTAGCTAATTGACCTCTTTGGCCTTCATAAAGCAGTTGGTAAACATCCTCAGATAATGATTTCCAAAGAGCAGATTGTGGGTCTCAGCTGTGTAGAGAAAGCCCACGTCCCTGAGACCACCTTCTCCAGCTGCCTACTGAGGCACACAGGGGCGCCTGCCTGCTGCCCGCTCAGCCAAGGCGGTGTTGCTGGAGCCAGCTTGGGACAGCTCTCCCAACGCTCTGCCCTGGCCTTGCGACCACTCTCTGGGCCGTAGTTGTCTGTCTGTTAAGTGAGGAAAGTGCCCATCTCCAGAG... |
Task1_train_13870 | An alteration has been detected in RBP3 (retinol binding protein 3) on Chromosome 10. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Retinitis pigmentosa | GGAGGTCCTGAAGGACTACTACACGCTGGTGGACCGTGTGCCCACCCTGCTGCAGCACTTGGCCAGCATGGACTTCTCCACGGTGGTCTCCGAGGAAGATCTGGTCACCAAGCTCAATGCCGGCCTGCAGGCTGCGTCTGAGGATCCCAGGCTCCTGGTGCGAGCCATCGGGCCCACAGAAACTCCTTCTTGGCCCGCGCCCGACGCTGCAGCCGAAGACTCACCAGGGGTGGCCCCAGAGTTGCCTGAGGACGAGGCTATCCGGCAAGCACTGGTGGACTCTGTGTTCCAGGTGTCGGTGCTGCCAGGCAATGTGGGCT... | GGAGGTCCTGAAGGACTACTACACGCTGGTGGACCGTGTGCCCACCCTGCTGCAGCACTTGGCCAGCATGGACTTCTCCACGGTGGTCTCCGAGGAAGATCTGGTCACCAAGCTCAATGCCGGCCTGCAGGCTGCGTCTGAGGATCCCAGGCTCCTGGTGCGAGCCATCGGGCCCACAGAAACTCCTTCTTGGCCCGCGCCCGACGCTGCAGCCGAAGACTCACCAGGGGTGGCCCCAGAGTTGCCTGAGGACGAGGCTATCCGGCAAGCACTGGTGGACTCTGTGTTCCAGGTGTCGGTGCTGCCAGGCAATGTGGGCT... |
Task1_train_13871 | This variant affects gene RBP3 (retinol binding protein 3) located on Chromosome 10. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | CTCCGGAGACCCACACCTGAAGGCAGCCCATATCCCTGAGAATGCCAAGGACCGCATTCCTGGAATTGTGCCCATGCAGGTGAGACCCAAGAGAGACCTGGCTGAACCCAGTCCCGGGAGTGAGTTGACCCATTGTCCGCACATGCAGGGCTCTGTGCACAGTGCGTGACAATGGCTTTTAGATTTGTTCTCACGTTTAAGTTTTGACCGGTCAAGTCCTTTCCTCTTTCTCAACCTGTTCCATCCACTCTCTGTGACCCTGGGGTTGCTGAACACCTCTGTAGAACATTCATATTAGGTTGGTGCAAAAGTACTTTCAA... | CTCCGGAGACCCACACCTGAAGGCAGCCCATATCCCTGAGAATGCCAAGGACCGCATTCCTGGAATTGTGCCCATGCAGGTGAGACCCAAGAGAGACCTGGCTGAACCCAGTCCCGGGAGTGAGTTGACCCATTGTCCGCACATGCAGGGCTCTGTGCACAGTGCGTGACAATGGCTTTTAGATTTGTTCTCACGTTTAAGTTTTGACCGGTCAAGTCCTTTCCTCTTTCTCAACCTGTTCCATCCACTCTCTGTGACCCTGGGGTTGCTGAACACCTCTGTAGAACATTCATATTAGGTTGGTGCAAAAGTACTTTCAA... |
Task1_train_13872 | Given a variant located on Chromosome 10 and affecting ERCC6 (ERCC excision repair 6, chromatin remodeling factor), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not specified | ATAAGAGAGAAGGAAAACCTTCCTTACAATAGAATGTTAATCACCATTTGGCAACCATTGTAGTAATAACTGACTGAGGAAAGAATCATCAATAGATATTAAAACTAGTGGATAAAAGTTTGATGAGAAACAGGATATTTACACAGTCTCAAAGCATATTCCTTGAAAGCACAAATTAATTACAAAGGTAAAAATATTAACCTTAGCATTGAGAAACCTGGCAGACTCCACCTTAACCAAGTGATCTTAAAAATCAACTTGTAATAGGTCAAACCAGCATGTGTCTCCTGATAGATGCACTGAGTAAGATACGGTATCAC... | ATAAGAGAGAAGGAAAACCTTCCTTACAATAGAATGTTAATCACCATTTGGCAACCATTGTAGTAATAACTGACTGAGGAAAGAATCATCAATAGATATTAAAACTAGTGGATAAAAGTTTGATGAGAAACAGGATATTTACACAGTCTCAAAGCATATTCCTTGAAAGCACAAATTAATTACAAAGGTAAAAATATTAACCTTAGCATTGAGAAACCTGGCAGACTCCACCTTAACCAAGTGATCTTAAAAATCAACTTGTAATAGGTCAAACCAGCATGTGTCTCCTGATAGATGCACTGAGTAAGATACGGTATCAC... |
Task1_train_13873 | A variant on Chromosome 10 in gene ERCC6 (ERCC excision repair 6, chromatin remodeling factor) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Cockayne syndrome type 2 | ATATGGTAACATTCAACCTTGTCATTTTTTAAAATTTTTCTGAAGGCAACACACCATAGCAGGCAGAAATATTCCTTTCAAATAACAATATGAAGTTTACATGTATGTGATTCTTGAGGTAGAATAAGGTACAAAAATTATCAGGTTCAAAGACATTTTTTGACAACTCACAGTAAGACATCTAAGCATATTTTAAAGGGAAAGAAAAAATACAAAACAAAAACCAAAGCCTTAAGTTATAGCAACTATTATTCTAAGATGTTAAGACTTTTAAAAACAACACTTTGGAAAAATTCCCTGCTCAAGACTCTGGGAACGCA... | ATATGGTAACATTCAACCTTGTCATTTTTTAAAATTTTTCTGAAGGCAACACACCATAGCAGGCAGAAATATTCCTTTCAAATAACAATATGAAGTTTACATGTATGTGATTCTTGAGGTAGAATAAGGTACAAAAATTATCAGGTTCAAAGACATTTTTTGACAACTCACAGTAAGACATCTAAGCATATTTTAAAGGGAAAGAAAAAATACAAAACAAAAACCAAAGCCTTAAGTTATAGCAACTATTATTCTAAGATGTTAAGACTTTTAAAAACAACACTTTGGAAAAATTCCCTGCTCAAGACTCTGGGAACGCA... |
Task1_train_13874 | A variant was discovered in gene ERCC6 (ERCC excision repair 6, chromatin remodeling factor), Chromosome 10. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Lung cancer | ATATGGTAACATTCAACCTTGTCATTTTTTAAAATTTTTCTGAAGGCAACACACCATAGCAGGCAGAAATATTCCTTTCAAATAACAATATGAAGTTTACATGTATGTGATTCTTGAGGTAGAATAAGGTACAAAAATTATCAGGTTCAAAGACATTTTTTGACAACTCACAGTAAGACATCTAAGCATATTTTAAAGGGAAAGAAAAAATACAAAACAAAAACCAAAGCCTTAAGTTATAGCAACTATTATTCTAAGATGTTAAGACTTTTAAAAACAACACTTTGGAAAAATTCCCTGCTCAAGACTCTGGGAACGCA... | ATATGGTAACATTCAACCTTGTCATTTTTTAAAATTTTTCTGAAGGCAACACACCATAGCAGGCAGAAATATTCCTTTCAAATAACAATATGAAGTTTACATGTATGTGATTCTTGAGGTAGAATAAGGTACAAAAATTATCAGGTTCAAAGACATTTTTTGACAACTCACAGTAAGACATCTAAGCATATTTTAAAGGGAAAGAAAAAATACAAAACAAAAACCAAAGCCTTAAGTTATAGCAACTATTATTCTAAGATGTTAAGACTTTTAAAAACAACACTTTGGAAAAATTCCCTGCTCAAGACTCTGGGAACGCA... |
Task1_train_13875 | This genomic variant is located on Chromosome 10, within the ERCC6 (ERCC excision repair 6, chromatin remodeling factor) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Cockayne syndrome type 2 | ATATGGTAACATTCAACCTTGTCATTTTTTAAAATTTTTCTGAAGGCAACACACCATAGCAGGCAGAAATATTCCTTTCAAATAACAATATGAAGTTTACATGTATGTGATTCTTGAGGTAGAATAAGGTACAAAAATTATCAGGTTCAAAGACATTTTTTGACAACTCACAGTAAGACATCTAAGCATATTTTAAAGGGAAAGAAAAAATACAAAACAAAAACCAAAGCCTTAAGTTATAGCAACTATTATTCTAAGATGTTAAGACTTTTAAAAACAACACTTTGGAAAAATTCCCTGCTCAAGACTCTGGGAACGCA... | ATATGGTAACATTCAACCTTGTCATTTTTTAAAATTTTTCTGAAGGCAACACACCATAGCAGGCAGAAATATTCCTTTCAAATAACAATATGAAGTTTACATGTATGTGATTCTTGAGGTAGAATAAGGTACAAAAATTATCAGGTTCAAAGACATTTTTTGACAACTCACAGTAAGACATCTAAGCATATTTTAAAGGGAAAGAAAAAATACAAAACAAAAACCAAAGCCTTAAGTTATAGCAACTATTATTCTAAGATGTTAAGACTTTTAAAAACAACACTTTGGAAAAATTCCCTGCTCAAGACTCTGGGAACGCA... |
Task1_train_13876 | Here is a mutation in ERCC6 (ERCC excision repair 6, chromatin remodeling factor) on Chromosome 10. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; DE SANCTIS-CACCHIONE SYNDROME | ATATGGTAACATTCAACCTTGTCATTTTTTAAAATTTTTCTGAAGGCAACACACCATAGCAGGCAGAAATATTCCTTTCAAATAACAATATGAAGTTTACATGTATGTGATTCTTGAGGTAGAATAAGGTACAAAAATTATCAGGTTCAAAGACATTTTTTGACAACTCACAGTAAGACATCTAAGCATATTTTAAAGGGAAAGAAAAAATACAAAACAAAAACCAAAGCCTTAAGTTATAGCAACTATTATTCTAAGATGTTAAGACTTTTAAAAACAACACTTTGGAAAAATTCCCTGCTCAAGACTCTGGGAACGCA... | ATATGGTAACATTCAACCTTGTCATTTTTTAAAATTTTTCTGAAGGCAACACACCATAGCAGGCAGAAATATTCCTTTCAAATAACAATATGAAGTTTACATGTATGTGATTCTTGAGGTAGAATAAGGTACAAAAATTATCAGGTTCAAAGACATTTTTTGACAACTCACAGTAAGACATCTAAGCATATTTTAAAGGGAAAGAAAAAATACAAAACAAAAACCAAAGCCTTAAGTTATAGCAACTATTATTCTAAGATGTTAAGACTTTTAAAAACAACACTTTGGAAAAATTCCCTGCTCAAGACTCTGGGAACGCA... |
Task1_train_13877 | Given a variant located on Chromosome 10 and affecting ERCC6 (ERCC excision repair 6, chromatin remodeling factor), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Premature ovarian failure 11 | ATATGGTAACATTCAACCTTGTCATTTTTTAAAATTTTTCTGAAGGCAACACACCATAGCAGGCAGAAATATTCCTTTCAAATAACAATATGAAGTTTACATGTATGTGATTCTTGAGGTAGAATAAGGTACAAAAATTATCAGGTTCAAAGACATTTTTTGACAACTCACAGTAAGACATCTAAGCATATTTTAAAGGGAAAGAAAAAATACAAAACAAAAACCAAAGCCTTAAGTTATAGCAACTATTATTCTAAGATGTTAAGACTTTTAAAAACAACACTTTGGAAAAATTCCCTGCTCAAGACTCTGGGAACGCA... | ATATGGTAACATTCAACCTTGTCATTTTTTAAAATTTTTCTGAAGGCAACACACCATAGCAGGCAGAAATATTCCTTTCAAATAACAATATGAAGTTTACATGTATGTGATTCTTGAGGTAGAATAAGGTACAAAAATTATCAGGTTCAAAGACATTTTTTGACAACTCACAGTAAGACATCTAAGCATATTTTAAAGGGAAAGAAAAAATACAAAACAAAAACCAAAGCCTTAAGTTATAGCAACTATTATTCTAAGATGTTAAGACTTTTAAAAACAACACTTTGGAAAAATTCCCTGCTCAAGACTCTGGGAACGCA... |
Task1_train_13878 | Consider a variant on Chromosome 10 in gene ERCC6 (ERCC excision repair 6, chromatin remodeling factor). Determine its clinical classification and disease relevance. | Pathogenic; Age related macular degeneration 5 | ATATGGTAACATTCAACCTTGTCATTTTTTAAAATTTTTCTGAAGGCAACACACCATAGCAGGCAGAAATATTCCTTTCAAATAACAATATGAAGTTTACATGTATGTGATTCTTGAGGTAGAATAAGGTACAAAAATTATCAGGTTCAAAGACATTTTTTGACAACTCACAGTAAGACATCTAAGCATATTTTAAAGGGAAAGAAAAAATACAAAACAAAAACCAAAGCCTTAAGTTATAGCAACTATTATTCTAAGATGTTAAGACTTTTAAAAACAACACTTTGGAAAAATTCCCTGCTCAAGACTCTGGGAACGCA... | ATATGGTAACATTCAACCTTGTCATTTTTTAAAATTTTTCTGAAGGCAACACACCATAGCAGGCAGAAATATTCCTTTCAAATAACAATATGAAGTTTACATGTATGTGATTCTTGAGGTAGAATAAGGTACAAAAATTATCAGGTTCAAAGACATTTTTTGACAACTCACAGTAAGACATCTAAGCATATTTTAAAGGGAAAGAAAAAATACAAAACAAAAACCAAAGCCTTAAGTTATAGCAACTATTATTCTAAGATGTTAAGACTTTTAAAAACAACACTTTGGAAAAATTCCCTGCTCAAGACTCTGGGAACGCA... |
Task1_train_13879 | Given a variant located on Chromosome 10 and affecting ERCC6 (ERCC excision repair 6, chromatin remodeling factor), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Cerebrooculofacioskeletal syndrome 1 | ATATGGTAACATTCAACCTTGTCATTTTTTAAAATTTTTCTGAAGGCAACACACCATAGCAGGCAGAAATATTCCTTTCAAATAACAATATGAAGTTTACATGTATGTGATTCTTGAGGTAGAATAAGGTACAAAAATTATCAGGTTCAAAGACATTTTTTGACAACTCACAGTAAGACATCTAAGCATATTTTAAAGGGAAAGAAAAAATACAAAACAAAAACCAAAGCCTTAAGTTATAGCAACTATTATTCTAAGATGTTAAGACTTTTAAAAACAACACTTTGGAAAAATTCCCTGCTCAAGACTCTGGGAACGCA... | ATATGGTAACATTCAACCTTGTCATTTTTTAAAATTTTTCTGAAGGCAACACACCATAGCAGGCAGAAATATTCCTTTCAAATAACAATATGAAGTTTACATGTATGTGATTCTTGAGGTAGAATAAGGTACAAAAATTATCAGGTTCAAAGACATTTTTTGACAACTCACAGTAAGACATCTAAGCATATTTTAAAGGGAAAGAAAAAATACAAAACAAAAACCAAAGCCTTAAGTTATAGCAACTATTATTCTAAGATGTTAAGACTTTTAAAAACAACACTTTGGAAAAATTCCCTGCTCAAGACTCTGGGAACGCA... |
Task1_train_13880 | This alteration occurs within gene ERCC6 (ERCC excision repair 6, chromatin remodeling factor) located on Chromosome 10. Is it associated with a disease or is it a benign variant? | Pathogenic; UV-sensitive syndrome 1 | ATATGGTAACATTCAACCTTGTCATTTTTTAAAATTTTTCTGAAGGCAACACACCATAGCAGGCAGAAATATTCCTTTCAAATAACAATATGAAGTTTACATGTATGTGATTCTTGAGGTAGAATAAGGTACAAAAATTATCAGGTTCAAAGACATTTTTTGACAACTCACAGTAAGACATCTAAGCATATTTTAAAGGGAAAGAAAAAATACAAAACAAAAACCAAAGCCTTAAGTTATAGCAACTATTATTCTAAGATGTTAAGACTTTTAAAAACAACACTTTGGAAAAATTCCCTGCTCAAGACTCTGGGAACGCA... | ATATGGTAACATTCAACCTTGTCATTTTTTAAAATTTTTCTGAAGGCAACACACCATAGCAGGCAGAAATATTCCTTTCAAATAACAATATGAAGTTTACATGTATGTGATTCTTGAGGTAGAATAAGGTACAAAAATTATCAGGTTCAAAGACATTTTTTGACAACTCACAGTAAGACATCTAAGCATATTTTAAAGGGAAAGAAAAAATACAAAACAAAAACCAAAGCCTTAAGTTATAGCAACTATTATTCTAAGATGTTAAGACTTTTAAAAACAACACTTTGGAAAAATTCCCTGCTCAAGACTCTGGGAACGCA... |
Task1_train_13881 | This is a variant in ERCC6 (ERCC excision repair 6, chromatin remodeling factor), located on Chromosome 10. Is this mutation a likely cause of disease or not? | Pathogenic; Cerebrooculofacioskeletal syndrome 1 | TAATTTCAAAAAAAAAATTAACAGAAATAATTAAAATATCAACAAAACTTCCTGATCAAAAGAGCACAATGCATGCGATTTTAATGATATCCCTATTATTAATATTAAAACAACAAAGGGTGACAATACTTCTCACCATACCCTGCTCACCAGCCCCTCCATCTCTGTCACTTGTCTACCTCCAGGGCCCATCCCACAGTCCCCAAAGACTGGCTTCCTGCTCACGGGCAAGTTCAGTGCCCAGGTGCACAGACCATCCTCCACGTTAGCCTCCAAGTGCTCAAACCATCCCACCTCCCATGACCCATGCCATGCTCTAC... | TAATTTCAAAAAAAAAATTAACAGAAATAATTAAAATATCAACAAAACTTCCTGATCAAAAGAGCACAATGCATGCGATTTTAATGATATCCCTATTATTAATATTAAAACAACAAAGGGTGACAATACTTCTCACCATACCCTGCTCACCAGCCCCTCCATCTCTGTCACTTGTCTACCTCCAGGGCCCATCCCACAGTCCCCAAAGACTGGCTTCCTGCTCACGGGCAAGTTCAGTGCCCAGGTGCACAGACCATCCTCCACGTTAGCCTCCAAGTGCTCAAACCATCCCACCTCCCATGACCCATGCCATGCTCTAC... |
Task1_train_13882 | Consider a variant on Chromosome 10 in gene ERCC6 (ERCC excision repair 6, chromatin remodeling factor). Determine its clinical classification and disease relevance. | Pathogenic; Inborn genetic diseases | ATAACCTGAATCCAATCATGAAGAAATGTAAGGCAAACCCAAACTGAGGTACATTCTACAAACTAACAGGCCTATAGTCTTTAAAAATGTCAAGGTAATGAAGGGCAAAGAAACAGTCCCAGATTAAAGGAGACTAGAGACACGGAAACTACTGGAACTGACAAAATATGAGTGATTATAGACTAGATAACAGACTCCTATTAATGTTAAACTTCGTTCTGATTTTGTTGCTTACACTGGCTATGTAAGAGGCGATCCTTGTTTTTGGAAATACACACTGAGGGATTTGGAGAAAGGGGCATCAGATCTGCAACCTGCCC... | ATAACCTGAATCCAATCATGAAGAAATGTAAGGCAAACCCAAACTGAGGTACATTCTACAAACTAACAGGCCTATAGTCTTTAAAAATGTCAAGGTAATGAAGGGCAAAGAAACAGTCCCAGATTAAAGGAGACTAGAGACACGGAAACTACTGGAACTGACAAAATATGAGTGATTATAGACTAGATAACAGACTCCTATTAATGTTAAACTTCGTTCTGATTTTGTTGCTTACACTGGCTATGTAAGAGGCGATCCTTGTTTTTGGAAATACACACTGAGGGATTTGGAGAAAGGGGCATCAGATCTGCAACCTGCCC... |
Task1_train_13883 | A mutation on Chromosome 10 affecting ERCC6 (ERCC excision repair 6, chromatin remodeling factor) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Cockayne syndrome type 2 | ATAACCTGAATCCAATCATGAAGAAATGTAAGGCAAACCCAAACTGAGGTACATTCTACAAACTAACAGGCCTATAGTCTTTAAAAATGTCAAGGTAATGAAGGGCAAAGAAACAGTCCCAGATTAAAGGAGACTAGAGACACGGAAACTACTGGAACTGACAAAATATGAGTGATTATAGACTAGATAACAGACTCCTATTAATGTTAAACTTCGTTCTGATTTTGTTGCTTACACTGGCTATGTAAGAGGCGATCCTTGTTTTTGGAAATACACACTGAGGGATTTGGAGAAAGGGGCATCAGATCTGCAACCTGCCC... | ATAACCTGAATCCAATCATGAAGAAATGTAAGGCAAACCCAAACTGAGGTACATTCTACAAACTAACAGGCCTATAGTCTTTAAAAATGTCAAGGTAATGAAGGGCAAAGAAACAGTCCCAGATTAAAGGAGACTAGAGACACGGAAACTACTGGAACTGACAAAATATGAGTGATTATAGACTAGATAACAGACTCCTATTAATGTTAAACTTCGTTCTGATTTTGTTGCTTACACTGGCTATGTAAGAGGCGATCCTTGTTTTTGGAAATACACACTGAGGGATTTGGAGAAAGGGGCATCAGATCTGCAACCTGCCC... |
Task1_train_13884 | A variant has been detected on Chromosome 10 in ERCC6 (ERCC excision repair 6, chromatin remodeling factor). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | TCTCACAAGCCACTTCCACCAATACCATCTTAATAAAGACAATCTGGGATGTAGTCCAATATGCCACATTATTTCATTATAGAGAAGAGGATATGAGCATTGATAGTTAATTGATTACAGCTGCTGTTCATTATTAGCCTTGACTTCATTCTTAGTAGGATTGTCACCACCCAAGAGAGCATGTTTTAATTTTTAGATCAAAACTACACTGCAGGGATGACTTTAGTTCTCCTAGGACCTGAGCACTGGACTCCACATAAGTGTGATGATAATAGGAAGGGAAGCAAAGAAAAGAAATGAAATGGGAAATAAGAAAATCC... | TCTCACAAGCCACTTCCACCAATACCATCTTAATAAAGACAATCTGGGATGTAGTCCAATATGCCACATTATTTCATTATAGAGAAGAGGATATGAGCATTGATAGTTAATTGATTACAGCTGCTGTTCATTATTAGCCTTGACTTCATTCTTAGTAGGATTGTCACCACCCAAGAGAGCATGTTTTAATTTTTAGATCAAAACTACACTGCAGGGATGACTTTAGTTCTCCTAGGACCTGAGCACTGGACTCCACATAAGTGTGATGATAATAGGAAGGGAAGCAAAGAAAAGAAATGAAATGGGAAATAAGAAAATCC... |
Task1_train_13885 | This alteration occurs within gene ERCC6, PGBD3 (ERCC excision repair 6, chromatin remodeling factor| piggyBac transposable element derived 3) located on Chromosome 10. Is it associated with a disease or is it a benign variant? | Pathogenic; Premature ovarian failure 11 | AAAACTCACTCTTCACTACACCCCTGCAAACTTTTCCAAGTAACAGTAAAATCAGTTTAGCAGTTCTTTGAACTATACATAATATAGGCTGAACAATCATGTAATACACATTTTATACTAGACAAATCAATGTACACAACTGCCCATACCAACACACAAAAGGGACAAAATACACATATTAATGGGAATTATCAAATATTAGTTGCCTGAGATCATATTAATAAAATAAACATGCCCTCTCCAAAACTTCAAGGAGGTCACCTACCGTGGTGCTCAAAATTCAAAACAGACCTTACTGCTCTATTGTAATATTTTTATGT... | AAAACTCACTCTTCACTACACCCCTGCAAACTTTTCCAAGTAACAGTAAAATCAGTTTAGCAGTTCTTTGAACTATACATAATATAGGCTGAACAATCATGTAATACACATTTTATACTAGACAAATCAATGTACACAACTGCCCATACCAACACACAAAAGGGACAAAATACACATATTAATGGGAATTATCAAATATTAGTTGCCTGAGATCATATTAATAAAATAAACATGCCCTCTCCAAAACTTCAAGGAGGTCACCTACCGTGGTGCTCAAAATTCAAAACAGACCTTACTGCTCTATTGTAATATTTTTATGT... |
Task1_train_13886 | Here is a genetic alteration in CHAT (choline O-acetyltransferase) on Chromosome 10. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Familial infantile myasthenia | GGAAAAGGGAGTGAAAGGGAAGGGAGAGAACGACCCAGGAGAAAGAAGCAGAGTGGACATGGAAGACTGATTTTAGCTCCTAGTCTGCCATCAGATTTGTATGTGACCTTGGACCAGCTGCTCCACTCTCTGGGACTCAGTTTCCTCATTCATAAATGGGAAGTCACAAAATTGAAGCCACACAGAAGCCTTCTGTGGTGAACGCTGCTGGTGAACTGAGAGGCACAGCATGCGTATAGAAGGGTGGAGTTGGGGGTTCTTCCTAGACTCTAGCCACACTTTGGGGCCCCCAAAGAATATGGGTTTCCTCTTGGGAATTC... | GGAAAAGGGAGTGAAAGGGAAGGGAGAGAACGACCCAGGAGAAAGAAGCAGAGTGGACATGGAAGACTGATTTTAGCTCCTAGTCTGCCATCAGATTTGTATGTGACCTTGGACCAGCTGCTCCACTCTCTGGGACTCAGTTTCCTCATTCATAAATGGGAAGTCACAAAATTGAAGCCACACAGAAGCCTTCTGTGGTGAACGCTGCTGGTGAACTGAGAGGCACAGCATGCGTATAGAAGGGTGGAGTTGGGGGTTCTTCCTAGACTCTAGCCACACTTTGGGGCCCCCAAAGAATATGGGTTTCCTCTTGGGAATTC... |
Task1_train_13887 | Gene CHAT (choline O-acetyltransferase), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Familial infantile myasthenia | AAAAGGGAGTGAAAGGGAAGGGAGAGAACGACCCAGGAGAAAGAAGCAGAGTGGACATGGAAGACTGATTTTAGCTCCTAGTCTGCCATCAGATTTGTATGTGACCTTGGACCAGCTGCTCCACTCTCTGGGACTCAGTTTCCTCATTCATAAATGGGAAGTCACAAAATTGAAGCCACACAGAAGCCTTCTGTGGTGAACGCTGCTGGTGAACTGAGAGGCACAGCATGCGTATAGAAGGGTGGAGTTGGGGGTTCTTCCTAGACTCTAGCCACACTTTGGGGCCCCCAAAGAATATGGGTTTCCTCTTGGGAATTCCT... | AAAAGGGAGTGAAAGGGAAGGGAGAGAACGACCCAGGAGAAAGAAGCAGAGTGGACATGGAAGACTGATTTTAGCTCCTAGTCTGCCATCAGATTTGTATGTGACCTTGGACCAGCTGCTCCACTCTCTGGGACTCAGTTTCCTCATTCATAAATGGGAAGTCACAAAATTGAAGCCACACAGAAGCCTTCTGTGGTGAACGCTGCTGGTGAACTGAGAGGCACAGCATGCGTATAGAAGGGTGGAGTTGGGGGTTCTTCCTAGACTCTAGCCACACTTTGGGGCCCCCAAAGAATATGGGTTTCCTCTTGGGAATTCCT... |
Task1_train_13888 | A sequence alteration has been identified in CHAT (choline O-acetyltransferase) on Chromosome 10. Is it disease-inducing or harmless? | Pathogenic; Familial infantile myasthenia | TCCCCTGAGTCCCACACTCGCTCATCCAAGCCTCAGCCATCCCCACCGGGGTGTCTCTCAGTCATTACAAATGAGCCAGGAGAGCTTCGCCTCTCCCTCCCCATTCCCCAACTCCTCCCATACCTTGTCGAGCCATGTCCGTAAGTGCACCAGCACATGCCCTGTTGGTGAGTCTGGGAACCTAGAAGTCACCTGTGCTTGTTCTGCTTTCTCCCTTGCACCTTCATGTAACCCATGGTGCTCAGATGTGGTCATTCTCCCTCCCCACTGTGTCCCCAAGCTCCCTCCTCCTTCCCTGCTGCCCTCACAAGACATCACGT... | TCCCCTGAGTCCCACACTCGCTCATCCAAGCCTCAGCCATCCCCACCGGGGTGTCTCTCAGTCATTACAAATGAGCCAGGAGAGCTTCGCCTCTCCCTCCCCATTCCCCAACTCCTCCCATACCTTGTCGAGCCATGTCCGTAAGTGCACCAGCACATGCCCTGTTGGTGAGTCTGGGAACCTAGAAGTCACCTGTGCTTGTTCTGCTTTCTCCCTTGCACCTTCATGTAACCCATGGTGCTCAGATGTGGTCATTCTCCCTCCCCACTGTGTCCCCAAGCTCCCTCCTCCTTCCCTGCTGCCCTCACAAGACATCACGT... |
Task1_train_13889 | A change on Chromosome 10 affects gene CHAT (choline O-acetyltransferase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Respiratory insufficiency | CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGA... | CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGA... |
Task1_train_13890 | This alteration occurs within gene CHAT (choline O-acetyltransferase) located on Chromosome 10. Is it associated with a disease or is it a benign variant? | Pathogenic; Aspiration pneumonia | CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGA... | CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGA... |
Task1_train_13891 | The gene CHAT (choline O-acetyltransferase), on Chromosome 10, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Gastroesophageal reflux | CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGA... | CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGA... |
Task1_train_13892 | Chromosome 10 houses a mutation in gene CHAT (choline O-acetyltransferase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Decreased activity of the pyruvate dehydrogenase complex | CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGA... | CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGA... |
Task1_train_13893 | A variant found in Chromosome 10 affects CHAT (choline O-acetyltransferase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Progressive muscle weakness | CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGA... | CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGA... |
Task1_train_13894 | A variant was discovered in gene CHAT (choline O-acetyltransferase), Chromosome 10. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Progressive ptosis | CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGA... | CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGA... |
Task1_train_13895 | This variant impacts the gene CHAT (choline O-acetyltransferase) on Chromosome 10. Is the change likely to result in a pathogenic outcome? | Pathogenic; Apnea, central sleep | CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGA... | CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGA... |
Task1_train_13896 | A change on Chromosome 10 affects gene CHAT (choline O-acetyltransferase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; External ophthalmoplegia | CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGA... | CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGA... |
Task1_train_13897 | The gene CHAT (choline O-acetyltransferase) on Chromosome 10 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Febrile seizure (within the age range of 3 months to 6 years) | CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGA... | CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGA... |
Task1_train_13898 | Given a variant located on Chromosome 10 and affecting CHAT (choline O-acetyltransferase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Pes planus | CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGA... | CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGA... |
Task1_train_13899 | The following genetic variant occurs in CHAT (choline O-acetyltransferase) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Lactic acidosis | CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGA... | CAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCTCCACCTGTACATCTGTTCTTTTCCATGCAGTCACCCAGGCTCTGGCCTTTCTGGAGACCACACACAGACAGACAGTGTTACAGA... |
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