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_14600 | The gene FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Crouzon syndrome | TCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTG... | TCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTG... |
Task1_train_14601 | This variant lies on Chromosome 10 and affects the gene FGFR2 (fibroblast growth factor receptor 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Beare-Stevenson cutis gyrata syndrome | TCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTG... | TCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTG... |
Task1_train_14602 | This alteration in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Gastric cancer | TCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTG... | TCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTG... |
Task1_train_14603 | The variant affects gene FGFR2 (fibroblast growth factor receptor 2), which is on Chromosome 10. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | TCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTG... | TCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTG... |
Task1_train_14604 | Gene FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Bent bone dysplasia syndrome 1 | TCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTG... | TCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTG... |
Task1_train_14605 | Located on Chromosome 10, this mutation impacts FGFR2 (fibroblast growth factor receptor 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Pfeiffer syndrome | TCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTG... | TCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTG... |
Task1_train_14606 | Chromosome 10 houses a mutation in gene FGFR2 (fibroblast growth factor receptor 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Levy-Hollister syndrome | TCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTG... | TCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTG... |
Task1_train_14607 | This mutation occurs in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Acrocephalosyndactyly type I | TCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTG... | TCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTG... |
Task1_train_14608 | A genomic change on Chromosome 10 affects FGFR2 (fibroblast growth factor receptor 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Jackson-Weiss syndrome | TCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTG... | TCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTG... |
Task1_train_14609 | A genetic alteration is present in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Pfeiffer syndrome | TCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTG... | TCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTG... |
Task1_train_14610 | Given a variant located on Chromosome 10 and affecting FGFR2 (fibroblast growth factor receptor 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; FGFR2-related craniosynostosis | TCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTG... | TCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTG... |
Task1_train_14611 | An alteration has been detected in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Aural atresia, congenital | TCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTG... | TCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTG... |
Task1_train_14612 | Gene FGFR2 (fibroblast growth factor receptor 2), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Pfeiffer syndrome | TCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTG... | TCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTG... |
Task1_train_14613 | Here’s a variant in FGFR2 (fibroblast growth factor receptor 2) located on Chromosome 10. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; FGFR2-related disorder | TCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTG... | TCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTG... |
Task1_train_14614 | Consider a variant on Chromosome 10 in gene FGFR2 (fibroblast growth factor receptor 2). Determine its clinical classification and disease relevance. | Pathogenic; Crouzon syndrome | CTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGA... | CTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGA... |
Task1_train_14615 | A variant found in Chromosome 10 affects FGFR2 (fibroblast growth factor receptor 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Crouzon syndrome | TTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGAT... | TTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGAT... |
Task1_train_14616 | Here is a variant affecting FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; FGFR2-related craniosynostosis | TTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGAT... | TTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGAT... |
Task1_train_14617 | This variant affects the gene FGFR2 (fibroblast growth factor receptor 2) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Crouzon syndrome | TTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGAT... | TTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGAT... |
Task1_train_14618 | This sequence variant lies in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Is it clinically significant, and what condition might it cause if any? | Pathogenic; FGFR2-related craniosynostosis | TTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGAT... | TTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGAT... |
Task1_train_14619 | Chromosome 10 houses a mutation in gene FGFR2 (fibroblast growth factor receptor 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; FGFR2-related craniosynostosis | GCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATAC... | GCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATAC... |
Task1_train_14620 | Assess the clinical impact of this variant on gene FGFR2 (fibroblast growth factor receptor 2), found on Chromosome 10. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Pfeiffer syndrome | GCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATAC... | GCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATAC... |
Task1_train_14621 | A genetic alteration is present in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; FGFR2-related craniosynostosis | CTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCA... | CTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCA... |
Task1_train_14622 | This variant affects gene FGFR2 (fibroblast growth factor receptor 2) located on Chromosome 10. Evaluate its biological effect and specify any disease association. | Pathogenic; Crouzon syndrome | CAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCG... | CAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCG... |
Task1_train_14623 | Here is a genetic alteration in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Pfeiffer syndrome | CAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCG... | CAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCG... |
Task1_train_14624 | A genomic change on Chromosome 10 affects FGFR2 (fibroblast growth factor receptor 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; FGFR2-related craniosynostosis | CAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCG... | CAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCG... |
Task1_train_14625 | Given this context: Chromosome 10, gene FGFR2 (fibroblast growth factor receptor 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | CAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCG... | CAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCG... |
Task1_train_14626 | This variant impacts the gene FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Is the change likely to result in a pathogenic outcome? | Pathogenic; Pfeiffer syndrome | TTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGAT... | TTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGAT... |
Task1_train_14627 | The gene FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Crouzon syndrome | TTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGAT... | TTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGAT... |
Task1_train_14628 | A change on Chromosome 10 affects gene FGFR2 (fibroblast growth factor receptor 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; FGFR2-related craniosynostosis | TTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGAT... | TTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGAT... |
Task1_train_14629 | Mutation context: Chromosome 10, Gene FGFR2 (fibroblast growth factor receptor 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; FGFR2-related craniosynostosis | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... |
Task1_train_14630 | Given this variant in gene FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Pfeiffer syndrome | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... |
Task1_train_14631 | Gene FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Acrocephalosyndactyly type I | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... |
Task1_train_14632 | A variant was discovered on Chromosome 10, affecting FGFR2 (fibroblast growth factor receptor 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; FGFR2-related disorder | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... |
Task1_train_14633 | This mutation occurs in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Familial scaphocephaly syndrome, McGillivray type | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... |
Task1_train_14634 | The gene FGFR2 (fibroblast growth factor receptor 2) is located on Chromosome 10, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Saethre-Chotzen syndrome | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... |
Task1_train_14635 | This sequence variant lies in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Jackson-Weiss syndrome | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... |
Task1_train_14636 | Chromosome 10 houses a mutation in gene FGFR2 (fibroblast growth factor receptor 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Beare-Stevenson cutis gyrata syndrome | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... |
Task1_train_14637 | The gene FGFR2 (fibroblast growth factor receptor 2), on Chromosome 10, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Gastric cancer | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... |
Task1_train_14638 | This sequence change occurs on Chromosome 10, altering FGFR2 (fibroblast growth factor receptor 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Bent bone dysplasia syndrome 1 | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... |
Task1_train_14639 | Gene FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Crouzon syndrome | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... |
Task1_train_14640 | A variant on Chromosome 10 in gene FGFR2 (fibroblast growth factor receptor 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Pfeiffer syndrome | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... |
Task1_train_14641 | A genetic alteration is present in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Acrocephalosyndactyly type I | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... |
Task1_train_14642 | The variant affects gene FGFR2 (fibroblast growth factor receptor 2), which is on Chromosome 10. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Levy-Hollister syndrome | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... |
Task1_train_14643 | The gene FGFR2 (fibroblast growth factor receptor 2), on Chromosome 10, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... |
Task1_train_14644 | A genomic change on Chromosome 10 affects FGFR2 (fibroblast growth factor receptor 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Familial scaphocephaly syndrome, McGillivray type | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... |
Task1_train_14645 | Gene FGFR2 (fibroblast growth factor receptor 2), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Saethre-Chotzen syndrome | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... |
Task1_train_14646 | An alteration has been detected in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Jackson-Weiss syndrome | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... |
Task1_train_14647 | A genetic alteration is present in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Beare-Stevenson cutis gyrata syndrome | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... |
Task1_train_14648 | Consider this mutation in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Is this a benign change or a disease-causing variant? | Pathogenic; Gastric cancer | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... |
Task1_train_14649 | Here is a genetic alteration in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Bent bone dysplasia syndrome 1 | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... |
Task1_train_14650 | This mutation occurs in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Crouzon syndrome | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... |
Task1_train_14651 | Mutation context: Chromosome 10, Gene FGFR2 (fibroblast growth factor receptor 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Pfeiffer syndrome | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... |
Task1_train_14652 | A genetic alteration is present in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Acrocephalosyndactyly type I | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... |
Task1_train_14653 | Consider a variant on Chromosome 10 in gene FGFR2 (fibroblast growth factor receptor 2). Determine its clinical classification and disease relevance. | Pathogenic; LADD syndrome 1 | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... |
Task1_train_14654 | Here’s a variant in FGFR2 (fibroblast growth factor receptor 2) located on Chromosome 10. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... |
Task1_train_14655 | A variant on Chromosome 10 in gene FGFR2 (fibroblast growth factor receptor 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Neoplasm | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... | ACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTGATACTCAAATGCCCCGTATTAAACAGGCATGGAAGCGTGTGTTTTAAATGGTGTTAATGTGCAGTAATGATGGGAAATGTGCAGCCTAAACAAGATCAACCAGAAGGAACAACTT... |
Task1_train_14656 | This variant lies on Chromosome 10 and affects the gene HTRA1 (HtrA serine peptidase 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | GTAAATGTGGGTGTATGTGTGGGTGTGTTTATGCATGTACATCTGTGGGTGTGTATGCATAGTGTGTATGTGTGAGTTTGTGTGTGTGTGTGCATTTGCATCTCTGTGTATATATGCATGTGTGTTAGGGGCAGGCACACAGGCCTGTTGGTAAATGAGACACAAAATACCTACAAAATACAAAATGTGAGACAGGAAATACAAGCCCCAGTTACTCATTTTTCAGTGCAACAGACATAAGATTACCATGTGAAATTGCTATGAAAGTTTCCGAAAGCTTCCTGTCAATTCGTAGTGAGCAGCTAGCAGAGGAGTGCGGG... | GTAAATGTGGGTGTATGTGTGGGTGTGTTTATGCATGTACATCTGTGGGTGTGTATGCATAGTGTGTATGTGTGAGTTTGTGTGTGTGTGTGCATTTGCATCTCTGTGTATATATGCATGTGTGTTAGGGGCAGGCACACAGGCCTGTTGGTAAATGAGACACAAAATACCTACAAAATACAAAATGTGAGACAGGAAATACAAGCCCCAGTTACTCATTTTTCAGTGCAACAGACATAAGATTACCATGTGAAATTGCTATGAAAGTTTCCGAAAGCTTCCTGTCAATTCGTAGTGAGCAGCTAGCAGAGGAGTGCGGG... |
Task1_train_14657 | A variant affecting Chromosome 10, within the gene HTRA1 (HtrA serine peptidase 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | GGGTGTGTTTATGCATGTACATCTGTGGGTGTGTATGCATAGTGTGTATGTGTGAGTTTGTGTGTGTGTGTGCATTTGCATCTCTGTGTATATATGCATGTGTGTTAGGGGCAGGCACACAGGCCTGTTGGTAAATGAGACACAAAATACCTACAAAATACAAAATGTGAGACAGGAAATACAAGCCCCAGTTACTCATTTTTCAGTGCAACAGACATAAGATTACCATGTGAAATTGCTATGAAAGTTTCCGAAAGCTTCCTGTCAATTCGTAGTGAGCAGCTAGCAGAGGAGTGCGGGTCCCTGGAGCCTGCTTGTGC... | GGGTGTGTTTATGCATGTACATCTGTGGGTGTGTATGCATAGTGTGTATGTGTGAGTTTGTGTGTGTGTGTGCATTTGCATCTCTGTGTATATATGCATGTGTGTTAGGGGCAGGCACACAGGCCTGTTGGTAAATGAGACACAAAATACCTACAAAATACAAAATGTGAGACAGGAAATACAAGCCCCAGTTACTCATTTTTCAGTGCAACAGACATAAGATTACCATGTGAAATTGCTATGAAAGTTTCCGAAAGCTTCCTGTCAATTCGTAGTGAGCAGCTAGCAGAGGAGTGCGGGTCCCTGGAGCCTGCTTGTGC... |
Task1_train_14658 | This variant impacts the gene HTRA1 (HtrA serine peptidase 1) on Chromosome 10. Is the change likely to result in a pathogenic outcome? | Pathogenic; CARASIL syndrome | GGAGCCCAGGACCCTGAATCTCTAGCAGTCCGTTTCTGAATCAGTTACCTTGGGTATGTGCCTCTGGTTGATGGAAACTAACTTGTAGCCCTGCTGGGTGAGAGCCTCACATCGGGACATGTGACAGCTTTGTTGAAAGTAGCTTTGGAAACGCCCACCACGTGGGGCCACTCACTGTAATATAAACGGTCATGCATCACTGAGCAACAGGGATACGTTCTGAGAAATGCGTCGTTAGGCGATTTCATCACTGTGGGAATGTTACAGAGTGTGCCTACGCAAACCTAGATGGCAGAGCCCACTCCACACCTAGGCCAGAT... | GGAGCCCAGGACCCTGAATCTCTAGCAGTCCGTTTCTGAATCAGTTACCTTGGGTATGTGCCTCTGGTTGATGGAAACTAACTTGTAGCCCTGCTGGGTGAGAGCCTCACATCGGGACATGTGACAGCTTTGTTGAAAGTAGCTTTGGAAACGCCCACCACGTGGGGCCACTCACTGTAATATAAACGGTCATGCATCACTGAGCAACAGGGATACGTTCTGAGAAATGCGTCGTTAGGCGATTTCATCACTGTGGGAATGTTACAGAGTGTGCCTACGCAAACCTAGATGGCAGAGCCCACTCCACACCTAGGCCAGAT... |
Task1_train_14659 | A change on Chromosome 10 affects gene HTRA1 (HtrA serine peptidase 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; CARASIL syndrome | AGCTTTGGAAACGCCCACCACGTGGGGCCACTCACTGTAATATAAACGGTCATGCATCACTGAGCAACAGGGATACGTTCTGAGAAATGCGTCGTTAGGCGATTTCATCACTGTGGGAATGTTACAGAGTGTGCCTACGCAAACCTAGATGGCAGAGCCCACTCCACACCTAGGCCAGATGGCAGAGCCTGTTGTTTCTAGGATGCACGCCCGTACAGTAGGTTACTGTACTGAATACTGTAGGCAGTTGTAACAATGGTGAGTATTTGTGTATTCAAACATAGAAAAGGTATAGTAAAAACAATGGTGTTATGGTCCGC... | AGCTTTGGAAACGCCCACCACGTGGGGCCACTCACTGTAATATAAACGGTCATGCATCACTGAGCAACAGGGATACGTTCTGAGAAATGCGTCGTTAGGCGATTTCATCACTGTGGGAATGTTACAGAGTGTGCCTACGCAAACCTAGATGGCAGAGCCCACTCCACACCTAGGCCAGATGGCAGAGCCTGTTGTTTCTAGGATGCACGCCCGTACAGTAGGTTACTGTACTGAATACTGTAGGCAGTTGTAACAATGGTGAGTATTTGTGTATTCAAACATAGAAAAGGTATAGTAAAAACAATGGTGTTATGGTCCGC... |
Task1_train_14660 | This sequence change occurs on Chromosome 10, altering HTRA1 (HtrA serine peptidase 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | CCCACCACGTGGGGCCACTCACTGTAATATAAACGGTCATGCATCACTGAGCAACAGGGATACGTTCTGAGAAATGCGTCGTTAGGCGATTTCATCACTGTGGGAATGTTACAGAGTGTGCCTACGCAAACCTAGATGGCAGAGCCCACTCCACACCTAGGCCAGATGGCAGAGCCTGTTGTTTCTAGGATGCACGCCCGTACAGTAGGTTACTGTACTGAATACTGTAGGCAGTTGTAACAATGGTGAGTATTTGTGTATTCAAACATAGAAAAGGTATAGTAAAAACAATGGTGTTATGGTCCGCGGCTGGCTGAAAC... | CCCACCACGTGGGGCCACTCACTGTAATATAAACGGTCATGCATCACTGAGCAACAGGGATACGTTCTGAGAAATGCGTCGTTAGGCGATTTCATCACTGTGGGAATGTTACAGAGTGTGCCTACGCAAACCTAGATGGCAGAGCCCACTCCACACCTAGGCCAGATGGCAGAGCCTGTTGTTTCTAGGATGCACGCCCGTACAGTAGGTTACTGTACTGAATACTGTAGGCAGTTGTAACAATGGTGAGTATTTGTGTATTCAAACATAGAAAAGGTATAGTAAAAACAATGGTGTTATGGTCCGCGGCTGGCTGAAAC... |
Task1_train_14661 | Gene HTRA1 (HtrA serine peptidase 1), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | GCCATGAGTGCTGAAGTCATGCCTGGCAGGGGCTGCTGGCCCAGGCCCAGAGTAAACACACTGCGCTGAGCTCGCTGGTGTGCTGCTGGATGCTGATGAGCTTGAGGAGTGTGGGAAGTGAGCATGGGGCTGAGTAGAGATGCGGCAGGCCTGCACCTCCCCGCAGCTGCCCTGCATGCTCCAGCCTCAGGCAGCCACACAGGGAAAGGGTCACCCACTGTCAGGGCAGACCTTTACCATGGCTGGGTGACACGGGCTGGCTGTGGAAAGGTGTTTGGTGGTTCCCGCTGTTGGATTTGCACAGGCCCAGATGCTCACAG... | GCCATGAGTGCTGAAGTCATGCCTGGCAGGGGCTGCTGGCCCAGGCCCAGAGTAAACACACTGCGCTGAGCTCGCTGGTGTGCTGCTGGATGCTGATGAGCTTGAGGAGTGTGGGAAGTGAGCATGGGGCTGAGTAGAGATGCGGCAGGCCTGCACCTCCCCGCAGCTGCCCTGCATGCTCCAGCCTCAGGCAGCCACACAGGGAAAGGGTCACCCACTGTCAGGGCAGACCTTTACCATGGCTGGGTGACACGGGCTGGCTGTGGAAAGGTGTTTGGTGGTTCCCGCTGTTGGATTTGCACAGGCCCAGATGCTCACAG... |
Task1_train_14662 | Given this variant in gene HTRA1 (HtrA serine peptidase 1) on Chromosome 10, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; CARASIL syndrome | GGCCCAGGCCCAGAGTAAACACACTGCGCTGAGCTCGCTGGTGTGCTGCTGGATGCTGATGAGCTTGAGGAGTGTGGGAAGTGAGCATGGGGCTGAGTAGAGATGCGGCAGGCCTGCACCTCCCCGCAGCTGCCCTGCATGCTCCAGCCTCAGGCAGCCACACAGGGAAAGGGTCACCCACTGTCAGGGCAGACCTTTACCATGGCTGGGTGACACGGGCTGGCTGTGGAAAGGTGTTTGGTGGTTCCCGCTGTTGGATTTGCACAGGCCCAGATGCTCACAGCAAAACCAACACCTAGATGGTGCTTACAGGAGCCAGC... | GGCCCAGGCCCAGAGTAAACACACTGCGCTGAGCTCGCTGGTGTGCTGCTGGATGCTGATGAGCTTGAGGAGTGTGGGAAGTGAGCATGGGGCTGAGTAGAGATGCGGCAGGCCTGCACCTCCCCGCAGCTGCCCTGCATGCTCCAGCCTCAGGCAGCCACACAGGGAAAGGGTCACCCACTGTCAGGGCAGACCTTTACCATGGCTGGGTGACACGGGCTGGCTGTGGAAAGGTGTTTGGTGGTTCCCGCTGTTGGATTTGCACAGGCCCAGATGCTCACAGCAAAACCAACACCTAGATGGTGCTTACAGGAGCCAGC... |
Task1_train_14663 | Given this variant in gene HTRA1 (HtrA serine peptidase 1) on Chromosome 10, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Age related macular degeneration 7 | GAGTGTGGGAAGTGAGCATGGGGCTGAGTAGAGATGCGGCAGGCCTGCACCTCCCCGCAGCTGCCCTGCATGCTCCAGCCTCAGGCAGCCACACAGGGAAAGGGTCACCCACTGTCAGGGCAGACCTTTACCATGGCTGGGTGACACGGGCTGGCTGTGGAAAGGTGTTTGGTGGTTCCCGCTGTTGGATTTGCACAGGCCCAGATGCTCACAGCAAAACCAACACCTAGATGGTGCTTACAGGAGCCAGCGGGTATTCAAAGAGCTGTTCAGATCTTAAGTTGCTTCATTCTCACAGTGGACCATTGAGGTAGCTGTAC... | GAGTGTGGGAAGTGAGCATGGGGCTGAGTAGAGATGCGGCAGGCCTGCACCTCCCCGCAGCTGCCCTGCATGCTCCAGCCTCAGGCAGCCACACAGGGAAAGGGTCACCCACTGTCAGGGCAGACCTTTACCATGGCTGGGTGACACGGGCTGGCTGTGGAAAGGTGTTTGGTGGTTCCCGCTGTTGGATTTGCACAGGCCCAGATGCTCACAGCAAAACCAACACCTAGATGGTGCTTACAGGAGCCAGCGGGTATTCAAAGAGCTGTTCAGATCTTAAGTTGCTTCATTCTCACAGTGGACCATTGAGGTAGCTGTAC... |
Task1_train_14664 | The gene HTRA1 (HtrA serine peptidase 1), on Chromosome 10, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; CARASIL syndrome | TTGGGCCCCCGGCCCCTGGTGTCCCCAGCACCCCCACCAACTGGGCTGACCTTCTGCTGTCCCTTTGTTGTCTCACCAGGAAAAGCCATCACCAAGAAGAAGTATATTGGTATCCGAATGATGTCACTCACGTCCAGGTGGGTAAACAGGATGCGTGTCTGTGTCTTAAATTTTAATAAACCTGAACTTCAGAAGGTGCTCACGGGCACCCCTGAAAGAGAAACCTTATGCTGCCTTAAGACGTCTCAGTTTCTGCTTATAATGAAGTAGCATCGGGAAAGAGGACAGGTCATTAGCCTTGGCCCCTTTGTTTGGTTTTA... | TTGGGCCCCCGGCCCCTGGTGTCCCCAGCACCCCCACCAACTGGGCTGACCTTCTGCTGTCCCTTTGTTGTCTCACCAGGAAAAGCCATCACCAAGAAGAAGTATATTGGTATCCGAATGATGTCACTCACGTCCAGGTGGGTAAACAGGATGCGTGTCTGTGTCTTAAATTTTAATAAACCTGAACTTCAGAAGGTGCTCACGGGCACCCCTGAAAGAGAAACCTTATGCTGCCTTAAGACGTCTCAGTTTCTGCTTATAATGAAGTAGCATCGGGAAAGAGGACAGGTCATTAGCCTTGGCCCCTTTGTTTGGTTTTA... |
Task1_train_14665 | Mutation context: Chromosome 10, Gene IKZF5 (IKAROS family zinc finger 5). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Thrombocytopenia 7 | ATTCAAAATGAATTACTCTATATTTAGTAAGTCTTATTTTTATAAACAAATTAAATGTCATGTTTAGATGCATTTTATATTCACTTCCACACCTTTTTATCCTTTCTTACTAAAGCGATGATTTAGTTTCTACACAGTTTCGTCACTGTACATGAAGACTGGTAAAACTGCAAATAAGAATTACAATTTGAAGTCACAGAAAATATTTTAAATGGCTAATTCTGAAGAGGAGACAAGAATCCATTTTGGACATGTTCTCAGTTTTGTAAATATGACTTCACTATCACATTCTCTCATGTGTTTCCATACCCACCTTTTCT... | ATTCAAAATGAATTACTCTATATTTAGTAAGTCTTATTTTTATAAACAAATTAAATGTCATGTTTAGATGCATTTTATATTCACTTCCACACCTTTTTATCCTTTCTTACTAAAGCGATGATTTAGTTTCTACACAGTTTCGTCACTGTACATGAAGACTGGTAAAACTGCAAATAAGAATTACAATTTGAAGTCACAGAAAATATTTTAAATGGCTAATTCTGAAGAGGAGACAAGAATCCATTTTGGACATGTTCTCAGTTTTGTAAATATGACTTCACTATCACATTCTCTCATGTGTTTCCATACCCACCTTTTCT... |
Task1_train_14666 | Here’s a variant in IKZF5 (IKAROS family zinc finger 5) located on Chromosome 10. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Thrombocytopenia 7 | ACAAATTAAATGTCATGTTTAGATGCATTTTATATTCACTTCCACACCTTTTTATCCTTTCTTACTAAAGCGATGATTTAGTTTCTACACAGTTTCGTCACTGTACATGAAGACTGGTAAAACTGCAAATAAGAATTACAATTTGAAGTCACAGAAAATATTTTAAATGGCTAATTCTGAAGAGGAGACAAGAATCCATTTTGGACATGTTCTCAGTTTTGTAAATATGACTTCACTATCACATTCTCTCATGTGTTTCCATACCCACCTTTTCTTGGAAATTATGGGCAGAAAATGGATAGAAGGAAGGAAAAGGAATC... | ACAAATTAAATGTCATGTTTAGATGCATTTTATATTCACTTCCACACCTTTTTATCCTTTCTTACTAAAGCGATGATTTAGTTTCTACACAGTTTCGTCACTGTACATGAAGACTGGTAAAACTGCAAATAAGAATTACAATTTGAAGTCACAGAAAATATTTTAAATGGCTAATTCTGAAGAGGAGACAAGAATCCATTTTGGACATGTTCTCAGTTTTGTAAATATGACTTCACTATCACATTCTCTCATGTGTTTCCATACCCACCTTTTCTTGGAAATTATGGGCAGAAAATGGATAGAAGGAAGGAAAAGGAATC... |
Task1_train_14667 | This variant lies on Chromosome 10 and affects the gene ACADSB (acyl-CoA dehydrogenase short/branched chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Deficiency of 2-methylbutyryl-CoA dehydrogenase | GTAGCCCAAAATGTAACAGCCACAGCCCTGACTGCAGCATAGTGTGACTCCAGGAATGTCTAGAGAGAGACTAAGAGAATTATCCTTCTGTTAGCAGCTGTGGGTTTTGAATTACACATGCACACATTCTCTTTGTGAAATTGAGAGTACTATGTGAGTTTCAGTAACGATGGAACTGGGTCGTTGGAAAGGCTTGGCTGGCACTGGTCGTGTTTACCAGGCCCTCGTGCTTTGGCTAGTGTGGCTCTAGCAAACACCACCACATGTTCTCTGCTAACCATCCTGAACTTATGAAGTGGCGTAAAAGGAATGGTCATTCA... | GTAGCCCAAAATGTAACAGCCACAGCCCTGACTGCAGCATAGTGTGACTCCAGGAATGTCTAGAGAGAGACTAAGAGAATTATCCTTCTGTTAGCAGCTGTGGGTTTTGAATTACACATGCACACATTCTCTTTGTGAAATTGAGAGTACTATGTGAGTTTCAGTAACGATGGAACTGGGTCGTTGGAAAGGCTTGGCTGGCACTGGTCGTGTTTACCAGGCCCTCGTGCTTTGGCTAGTGTGGCTCTAGCAAACACCACCACATGTTCTCTGCTAACCATCCTGAACTTATGAAGTGGCGTAAAAGGAATGGTCATTCA... |
Task1_train_14668 | This genomic variant is located on Chromosome 10, within the ACADSB (acyl-CoA dehydrogenase short/branched chain) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Deficiency of 2-methylbutyryl-CoA dehydrogenase | TTCATAAATATAGGCTTTTTAAAAAAGCAGCTAAAGATTTGATTTACAAATGTCCATTTTTCCATAAGTATTTGTTATACAGAGTATAAATACAGTTATTAATTTGGACATTTTTTTCTCCCATATGTAGGTAGGAAGTTTCTGCCTTTCAGAGGCTGGAGCAGGTAGTGACTCATTTGCTTTGAAGACCAGAGCTGATAAAGAGGGAGATTATTATGTCCTCAATGGATCAAAGATGTGGATCAGCAGTGCTGAGCACGCAGGGCTCTTTCTGGTGATGGCAAATGTAGACCCTACCATTGTAAGTTTGAAAACGAAAT... | TTCATAAATATAGGCTTTTTAAAAAAGCAGCTAAAGATTTGATTTACAAATGTCCATTTTTCCATAAGTATTTGTTATACAGAGTATAAATACAGTTATTAATTTGGACATTTTTTTCTCCCATATGTAGGTAGGAAGTTTCTGCCTTTCAGAGGCTGGAGCAGGTAGTGACTCATTTGCTTTGAAGACCAGAGCTGATAAAGAGGGAGATTATTATGTCCTCAATGGATCAAAGATGTGGATCAGCAGTGCTGAGCACGCAGGGCTCTTTCTGGTGATGGCAAATGTAGACCCTACCATTGTAAGTTTGAAAACGAAAT... |
Task1_train_14669 | Gene ACADSB (acyl-CoA dehydrogenase short/branched chain) on Chromosome 10 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Deficiency of 2-methylbutyryl-CoA dehydrogenase | GGCCTCCAACACCAAGTGGCTCACGTGGCCACCCAGCTGGAAGCTGCAAGATTACTAACATACAATGCTGCTAGGCTTTTAGAAGCTGGAAAGCCATTCATAAAAGAAGCGTCAATGGCCAAATACTATGCATCAGAGGTAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAAGTAATTCAGCCTTTTTTTTTTCAGATATATACTTATTAACATTTTCTCTTGGGAATGTTGATTGTACTTTGGTTGTTTTTCAAGTTAAGATAACATGGACTTTTATTTCTTATAATAGAAAAGCAAAAAAGGAAAACTGCCATAGGAAA... | GGCCTCCAACACCAAGTGGCTCACGTGGCCACCCAGCTGGAAGCTGCAAGATTACTAACATACAATGCTGCTAGGCTTTTAGAAGCTGGAAAGCCATTCATAAAAGAAGCGTCAATGGCCAAATACTATGCATCAGAGGTAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAAGTAATTCAGCCTTTTTTTTTTCAGATATATACTTATTAACATTTTCTCTTGGGAATGTTGATTGTACTTTGGTTGTTTTTCAAGTTAAGATAACATGGACTTTTATTTCTTATAATAGAAAAGCAAAAAAGGAAAACTGCCATAGGAAA... |
Task1_train_14670 | An alteration has been detected in ACADSB (acyl-CoA dehydrogenase short/branched chain) on Chromosome 10. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Deficiency of 2-methylbutyryl-CoA dehydrogenase | AATGCTGCTAGGCTTTTAGAAGCTGGAAAGCCATTCATAAAAGAAGCGTCAATGGCCAAATACTATGCATCAGAGGTAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAAGTAATTCAGCCTTTTTTTTTTCAGATATATACTTATTAACATTTTCTCTTGGGAATGTTGATTGTACTTTGGTTGTTTTTCAAGTTAAGATAACATGGACTTTTATTTCTTATAATAGAAAAGCAAAAAAGGAAAACTGCCATAGGAAAACACTTGAATTCTGTGAGGTCTCAATGTTTCGTTGAGTAGCCCAGCTCAGCTAGACCACCCAT... | AATGCTGCTAGGCTTTTAGAAGCTGGAAAGCCATTCATAAAAGAAGCGTCAATGGCCAAATACTATGCATCAGAGGTAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAAGTAATTCAGCCTTTTTTTTTTCAGATATATACTTATTAACATTTTCTCTTGGGAATGTTGATTGTACTTTGGTTGTTTTTCAAGTTAAGATAACATGGACTTTTATTTCTTATAATAGAAAAGCAAAAAAGGAAAACTGCCATAGGAAAACACTTGAATTCTGTGAGGTCTCAATGTTTCGTTGAGTAGCCCAGCTCAGCTAGACCACCCAT... |
Task1_train_14671 | Chromosome 10 houses a mutation in gene OAT (ornithine aminotransferase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Ornithine aminotransferase deficiency | GCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTGTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGTAGGCCTATTGTCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCATTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCATTCCAGCCTAGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAGGAATACAAAAAAAAGAAAACACATGGAATAAATAAATCTCAAAAAGCTTAAAAATGTAACTGATAGGCTG... | GCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTGTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGTAGGCCTATTGTCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCATTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCATTCCAGCCTAGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAGGAATACAAAAAAAAGAAAACACATGGAATAAATAAATCTCAAAAAGCTTAAAAATGTAACTGATAGGCTG... |
Task1_train_14672 | Given a variant located on Chromosome 10 and affecting OAT (ornithine aminotransferase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Hyperornithinemia | GCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTGTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGTAGGCCTATTGTCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCATTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCATTCCAGCCTAGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAGGAATACAAAAAAAAGAAAACACATGGAATAAATAAATCTCAAAAAGCTTAAAAATGTAACTGATAGGCTG... | GCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTGTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGTAGGCCTATTGTCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCATTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCATTCCAGCCTAGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAGGAATACAAAAAAAAGAAAACACATGGAATAAATAAATCTCAAAAAGCTTAAAAATGTAACTGATAGGCTG... |
Task1_train_14673 | This genomic variant is located on Chromosome 10, within the OAT (ornithine aminotransferase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Ornithine aminotransferase deficiency | TGAAACCCCATCTGTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGTAGGCCTATTGTCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCATTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCATTCCAGCCTAGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAGGAATACAAAAAAAAGAAAACACATGGAATAAATAAATCTCAAAAAGCTTAAAAATGTAACTGATAGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATC... | TGAAACCCCATCTGTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGTAGGCCTATTGTCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCATTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCATTCCAGCCTAGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAGGAATACAAAAAAAAGAAAACACATGGAATAAATAAATCTCAAAAAGCTTAAAAATGTAACTGATAGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATC... |
Task1_train_14674 | A mutation found in OAT (ornithine aminotransferase) on Chromosome 10 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Hyperornithinemia | TGGTGTAGGCCTATTGTCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCATTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCATTCCAGCCTAGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAGGAATACAAAAAAAAGAAAACACATGGAATAAATAAATCTCAAAAAGCTTAAAAATGTAACTGATAGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACAAAGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACC... | TGGTGTAGGCCTATTGTCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCATTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCATTCCAGCCTAGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAGGAATACAAAAAAAAGAAAACACATGGAATAAATAAATCTCAAAAAGCTTAAAAATGTAACTGATAGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACAAAGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACC... |
Task1_train_14675 | Given a variant located on Chromosome 10 and affecting OAT (ornithine aminotransferase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Ornithine aminotransferase deficiency | TGGTGTAGGCCTATTGTCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCATTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCATTCCAGCCTAGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAGGAATACAAAAAAAAGAAAACACATGGAATAAATAAATCTCAAAAAGCTTAAAAATGTAACTGATAGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACAAAGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACC... | TGGTGTAGGCCTATTGTCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCATTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCATTCCAGCCTAGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAGGAATACAAAAAAAAGAAAACACATGGAATAAATAAATCTCAAAAAGCTTAAAAATGTAACTGATAGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACAAAGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACC... |
Task1_train_14676 | A mutation on Chromosome 10 affecting OAT (ornithine aminotransferase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not specified | CTTGGGAGGCTGAGGCACAAGAATCATTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCATTCCAGCCTAGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAGGAATACAAAAAAAAGAAAACACATGGAATAAATAAATCTCAAAAAGCTTAAAAATGTAACTGATAGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACAAAGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAA... | CTTGGGAGGCTGAGGCACAAGAATCATTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCATTCCAGCCTAGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAGGAATACAAAAAAAAGAAAACACATGGAATAAATAAATCTCAAAAAGCTTAAAAATGTAACTGATAGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACAAAGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAA... |
Task1_train_14677 | This genomic variant is located on Chromosome 10, within the OAT (ornithine aminotransferase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Ornithine aminotransferase deficiency | TGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTCGCAGTGAGCCAAGATCATGCCACTGTACTCCAGCCTGGCGACAGACACTCCAGCCCAACAGAGCAAGGCACTGTCTCAAAAAATAAAATAAATAAAATAAATAAAATTCTAAAAAAGAAAAAAAAGAACTTGGGTATGATACAGATGATTAACTGACATAAAATGGGCAATACTCAAAACCCAGTGAACACTACACATTCCAAAAAGGGACTCGCTTCCTGAGCTCAACATATTATAGCAGCGATTCTCAACCTGGC... | TGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTCGCAGTGAGCCAAGATCATGCCACTGTACTCCAGCCTGGCGACAGACACTCCAGCCCAACAGAGCAAGGCACTGTCTCAAAAAATAAAATAAATAAAATAAATAAAATTCTAAAAAAGAAAAAAAAGAACTTGGGTATGATACAGATGATTAACTGACATAAAATGGGCAATACTCAAAACCCAGTGAACACTACACATTCCAAAAAGGGACTCGCTTCCTGAGCTCAACATATTATAGCAGCGATTCTCAACCTGGC... |
Task1_train_14678 | Gene OAT (ornithine aminotransferase), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Ornithine aminotransferase deficiency | ACCTAAGGGTTACAAAGGATGTACTAAAACATCAAACACCCAATTAAGTGACAGCCAGCATTATTTTTATTATTGACCCCATAACTGTCATTCATATCATTATTTCTGCTGCTCCTATAACCTCTACTGACACAAAGCATCAAAGTGAGGGAGGGAAGGATAGCAAAGAGGACACTTTCAAGTCCAGACTCACCAACAAAAAAACTTGAACTCTCTAAATACTGCATGACTAATTTAAGGCAGAAAAATAAGTGTCTTAAAGGAACAAGGGTCAAATTGGTTAAATGTGCCTTCATTTAGAAAAGAGCTATATTTTTTAT... | ACCTAAGGGTTACAAAGGATGTACTAAAACATCAAACACCCAATTAAGTGACAGCCAGCATTATTTTTATTATTGACCCCATAACTGTCATTCATATCATTATTTCTGCTGCTCCTATAACCTCTACTGACACAAAGCATCAAAGTGAGGGAGGGAAGGATAGCAAAGAGGACACTTTCAAGTCCAGACTCACCAACAAAAAAACTTGAACTCTCTAAATACTGCATGACTAATTTAAGGCAGAAAAATAAGTGTCTTAAAGGAACAAGGGTCAAATTGGTTAAATGTGCCTTCATTTAGAAAAGAGCTATATTTTTTAT... |
Task1_train_14679 | An alteration has been detected in OAT (ornithine aminotransferase) on Chromosome 10. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Ornithine aminotransferase deficiency | TAAGGGTTACAAAGGATGTACTAAAACATCAAACACCCAATTAAGTGACAGCCAGCATTATTTTTATTATTGACCCCATAACTGTCATTCATATCATTATTTCTGCTGCTCCTATAACCTCTACTGACACAAAGCATCAAAGTGAGGGAGGGAAGGATAGCAAAGAGGACACTTTCAAGTCCAGACTCACCAACAAAAAAACTTGAACTCTCTAAATACTGCATGACTAATTTAAGGCAGAAAAATAAGTGTCTTAAAGGAACAAGGGTCAAATTGGTTAAATGTGCCTTCATTTAGAAAAGAGCTATATTTTTTATACT... | TAAGGGTTACAAAGGATGTACTAAAACATCAAACACCCAATTAAGTGACAGCCAGCATTATTTTTATTATTGACCCCATAACTGTCATTCATATCATTATTTCTGCTGCTCCTATAACCTCTACTGACACAAAGCATCAAAGTGAGGGAGGGAAGGATAGCAAAGAGGACACTTTCAAGTCCAGACTCACCAACAAAAAAACTTGAACTCTCTAAATACTGCATGACTAATTTAAGGCAGAAAAATAAGTGTCTTAAAGGAACAAGGGTCAAATTGGTTAAATGTGCCTTCATTTAGAAAAGAGCTATATTTTTTATACT... |
Task1_train_14680 | A genomic change on Chromosome 10 affects OAT (ornithine aminotransferase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Ornithine aminotransferase deficiency | TCCTCTTACGGCAGTTACAACATCAGAAGGTAGCTTCATGAGTTCATTTCTCAAGATAATGCCCAATTTGTCTGCATTTTCAGCAAGGTTTTCTTCTTCTAAAACCTACGTTTAAAGAAAAATTATACAAATATTAAGACTGTCCTTTTTTTGTTTTTTGGAGGACAACGGGGACTGTAAACACAGGAAAAACATGACTAGATAAAATACCAGAGGAACTTAACTTTCATTGCTATTTTTCAAAGCCTGTATTAGTTTCTAATTAAACATACACTAGCTCAGAGTCTTGCTTTCATCACAAATCTATTGCCAATCATTCA... | TCCTCTTACGGCAGTTACAACATCAGAAGGTAGCTTCATGAGTTCATTTCTCAAGATAATGCCCAATTTGTCTGCATTTTCAGCAAGGTTTTCTTCTTCTAAAACCTACGTTTAAAGAAAAATTATACAAATATTAAGACTGTCCTTTTTTTGTTTTTTGGAGGACAACGGGGACTGTAAACACAGGAAAAACATGACTAGATAAAATACCAGAGGAACTTAACTTTCATTGCTATTTTTCAAAGCCTGTATTAGTTTCTAATTAAACATACACTAGCTCAGAGTCTTGCTTTCATCACAAATCTATTGCCAATCATTCA... |
Task1_train_14681 | A mutation found in OAT (ornithine aminotransferase) on Chromosome 10 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Ornithine aminotransferase deficiency | AACATCAGAAGGTAGCTTCATGAGTTCATTTCTCAAGATAATGCCCAATTTGTCTGCATTTTCAGCAAGGTTTTCTTCTTCTAAAACCTACGTTTAAAGAAAAATTATACAAATATTAAGACTGTCCTTTTTTTGTTTTTTGGAGGACAACGGGGACTGTAAACACAGGAAAAACATGACTAGATAAAATACCAGAGGAACTTAACTTTCATTGCTATTTTTCAAAGCCTGTATTAGTTTCTAATTAAACATACACTAGCTCAGAGTCTTGCTTTCATCACAAATCTATTGCCAATCATTCATGGCAAAATAAGGATTAA... | AACATCAGAAGGTAGCTTCATGAGTTCATTTCTCAAGATAATGCCCAATTTGTCTGCATTTTCAGCAAGGTTTTCTTCTTCTAAAACCTACGTTTAAAGAAAAATTATACAAATATTAAGACTGTCCTTTTTTTGTTTTTTGGAGGACAACGGGGACTGTAAACACAGGAAAAACATGACTAGATAAAATACCAGAGGAACTTAACTTTCATTGCTATTTTTCAAAGCCTGTATTAGTTTCTAATTAAACATACACTAGCTCAGAGTCTTGCTTTCATCACAAATCTATTGCCAATCATTCATGGCAAAATAAGGATTAA... |
Task1_train_14682 | Located on Chromosome 10, this mutation impacts OAT (ornithine aminotransferase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Ornithine aminotransferase deficiency | GTTTTCTTCTTCTAAAACCTACGTTTAAAGAAAAATTATACAAATATTAAGACTGTCCTTTTTTTGTTTTTTGGAGGACAACGGGGACTGTAAACACAGGAAAAACATGACTAGATAAAATACCAGAGGAACTTAACTTTCATTGCTATTTTTCAAAGCCTGTATTAGTTTCTAATTAAACATACACTAGCTCAGAGTCTTGCTTTCATCACAAATCTATTGCCAATCATTCATGGCAAAATAAGGATTAAAGTTTATTTAATGCAACTCACATACTGTCATTAATTGAATACATCAATGGACGAAATGTAATTCCTAAA... | GTTTTCTTCTTCTAAAACCTACGTTTAAAGAAAAATTATACAAATATTAAGACTGTCCTTTTTTTGTTTTTTGGAGGACAACGGGGACTGTAAACACAGGAAAAACATGACTAGATAAAATACCAGAGGAACTTAACTTTCATTGCTATTTTTCAAAGCCTGTATTAGTTTCTAATTAAACATACACTAGCTCAGAGTCTTGCTTTCATCACAAATCTATTGCCAATCATTCATGGCAAAATAAGGATTAAAGTTTATTTAATGCAACTCACATACTGTCATTAATTGAATACATCAATGGACGAAATGTAATTCCTAAA... |
Task1_train_14683 | This alteration occurs within gene OAT (ornithine aminotransferase) located on Chromosome 10. Is it associated with a disease or is it a benign variant? | Pathogenic; Ornithine aminotransferase deficiency | TCTTCTTCTAAAACCTACGTTTAAAGAAAAATTATACAAATATTAAGACTGTCCTTTTTTTGTTTTTTGGAGGACAACGGGGACTGTAAACACAGGAAAAACATGACTAGATAAAATACCAGAGGAACTTAACTTTCATTGCTATTTTTCAAAGCCTGTATTAGTTTCTAATTAAACATACACTAGCTCAGAGTCTTGCTTTCATCACAAATCTATTGCCAATCATTCATGGCAAAATAAGGATTAAAGTTTATTTAATGCAACTCACATACTGTCATTAATTGAATACATCAATGGACGAAATGTAATTCCTAAACTGC... | TCTTCTTCTAAAACCTACGTTTAAAGAAAAATTATACAAATATTAAGACTGTCCTTTTTTTGTTTTTTGGAGGACAACGGGGACTGTAAACACAGGAAAAACATGACTAGATAAAATACCAGAGGAACTTAACTTTCATTGCTATTTTTCAAAGCCTGTATTAGTTTCTAATTAAACATACACTAGCTCAGAGTCTTGCTTTCATCACAAATCTATTGCCAATCATTCATGGCAAAATAAGGATTAAAGTTTATTTAATGCAACTCACATACTGTCATTAATTGAATACATCAATGGACGAAATGTAATTCCTAAACTGC... |
Task1_train_14684 | A sequence alteration has been identified in LOC121815974, OAT (NANOG hESC enhancer GRCh37_chr10:126092029-126092572| ornithine aminotransferase) on Chromosome 10. Is it disease-inducing or harmless? | Pathogenic; Ornithine aminotransferase deficiency | TATGTGGACCCATGCTCCCCTGGCTTAATGGTCAGCATGATGTCATCATCACACAGCACTGCAGACACCTGAAAGACAGTCAATTCACCATGTCATTTCTCAGCACTAAGCATTCTACTAAGCATCCTTTTCCCCAGAGTCTCGCTGTCACCCAGGCTTGAGTGCAGTGGCGTGATCTCAGCTCACTGCAATCTCTGCCTCCTGGACTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCACACATGTTATTTATTTATTTATTTATTTTGTAGTTTTAGTAGAGATATA... | TATGTGGACCCATGCTCCCCTGGCTTAATGGTCAGCATGATGTCATCATCACACAGCACTGCAGACACCTGAAAGACAGTCAATTCACCATGTCATTTCTCAGCACTAAGCATTCTACTAAGCATCCTTTTCCCCAGAGTCTCGCTGTCACCCAGGCTTGAGTGCAGTGGCGTGATCTCAGCTCACTGCAATCTCTGCCTCCTGGACTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCACACATGTTATTTATTTATTTATTTATTTTGTAGTTTTAGTAGAGATATA... |
Task1_train_14685 | This gene mutation involves LOC121815974, OAT (NANOG hESC enhancer GRCh37_chr10:126092029-126092572| ornithine aminotransferase) on Chromosome 10. Is it associated with any clinical condition, or is it benign? | Pathogenic; Ornithine aminotransferase deficiency | TCCCCTGGCTTAATGGTCAGCATGATGTCATCATCACACAGCACTGCAGACACCTGAAAGACAGTCAATTCACCATGTCATTTCTCAGCACTAAGCATTCTACTAAGCATCCTTTTCCCCAGAGTCTCGCTGTCACCCAGGCTTGAGTGCAGTGGCGTGATCTCAGCTCACTGCAATCTCTGCCTCCTGGACTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCACACATGTTATTTATTTATTTATTTATTTTGTAGTTTTAGTAGAGATATAGTTTCACCATGTTGG... | TCCCCTGGCTTAATGGTCAGCATGATGTCATCATCACACAGCACTGCAGACACCTGAAAGACAGTCAATTCACCATGTCATTTCTCAGCACTAAGCATTCTACTAAGCATCCTTTTCCCCAGAGTCTCGCTGTCACCCAGGCTTGAGTGCAGTGGCGTGATCTCAGCTCACTGCAATCTCTGCCTCCTGGACTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCACACATGTTATTTATTTATTTATTTATTTTGTAGTTTTAGTAGAGATATAGTTTCACCATGTTGG... |
Task1_train_14686 | This variant lies on Chromosome 10 and affects the gene LOC121815974, OAT (NANOG hESC enhancer GRCh37_chr10:126092029-126092572| ornithine aminotransferase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hyperornithinemia | AAGACAGTCAATTCACCATGTCATTTCTCAGCACTAAGCATTCTACTAAGCATCCTTTTCCCCAGAGTCTCGCTGTCACCCAGGCTTGAGTGCAGTGGCGTGATCTCAGCTCACTGCAATCTCTGCCTCCTGGACTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCACACATGTTATTTATTTATTTATTTATTTTGTAGTTTTAGTAGAGATATAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCATGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAG... | AAGACAGTCAATTCACCATGTCATTTCTCAGCACTAAGCATTCTACTAAGCATCCTTTTCCCCAGAGTCTCGCTGTCACCCAGGCTTGAGTGCAGTGGCGTGATCTCAGCTCACTGCAATCTCTGCCTCCTGGACTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCACACATGTTATTTATTTATTTATTTATTTTGTAGTTTTAGTAGAGATATAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCATGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAG... |
Task1_train_14687 | This alteration in LOC121815974, OAT (NANOG hESC enhancer GRCh37_chr10:126092029-126092572| ornithine aminotransferase) on Chromosome 10 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Ornithine aminotransferase deficiency | AAGACAGTCAATTCACCATGTCATTTCTCAGCACTAAGCATTCTACTAAGCATCCTTTTCCCCAGAGTCTCGCTGTCACCCAGGCTTGAGTGCAGTGGCGTGATCTCAGCTCACTGCAATCTCTGCCTCCTGGACTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCACACATGTTATTTATTTATTTATTTATTTTGTAGTTTTAGTAGAGATATAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCATGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAG... | AAGACAGTCAATTCACCATGTCATTTCTCAGCACTAAGCATTCTACTAAGCATCCTTTTCCCCAGAGTCTCGCTGTCACCCAGGCTTGAGTGCAGTGGCGTGATCTCAGCTCACTGCAATCTCTGCCTCCTGGACTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCACACATGTTATTTATTTATTTATTTATTTTGTAGTTTTAGTAGAGATATAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCATGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAG... |
Task1_train_14688 | Mutation context: Chromosome 10, Gene OAT (ornithine aminotransferase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Ornithine aminotransferase deficiency | TACTACTATTAGCCCTGGGGGAAAGGAGGAGAGAATACAACAAAGGGCTTGCGGGGGCTCAGAGTGAAAGGCTCTTAGAGCAGCGAGGAAGGAAACGCTGTTAAGACCAGGTCTGCAGTTCTGCACAGGGCCCAGGACAAGGCCAGAGACAGGAAAAAGTCTGCTTCTGTGCAGGTTTCTAAGCACTAGGAAGTACTTAAGCTCTTAGAATGCCATCGCCCTCTAGTGGAAAGTAATTTAATCTTTGCATTTATCCAATCAGCAGAATTCAGAGAGGAGTTGGGGAGGAGCCCATTCAGCCTCATCACAAACAGCTAACT... | TACTACTATTAGCCCTGGGGGAAAGGAGGAGAGAATACAACAAAGGGCTTGCGGGGGCTCAGAGTGAAAGGCTCTTAGAGCAGCGAGGAAGGAAACGCTGTTAAGACCAGGTCTGCAGTTCTGCACAGGGCCCAGGACAAGGCCAGAGACAGGAAAAAGTCTGCTTCTGTGCAGGTTTCTAAGCACTAGGAAGTACTTAAGCTCTTAGAATGCCATCGCCCTCTAGTGGAAAGTAATTTAATCTTTGCATTTATCCAATCAGCAGAATTCAGAGAGGAGTTGGGGAGGAGCCCATTCAGCCTCATCACAAACAGCTAACT... |
Task1_train_14689 | This is a variant in OAT (ornithine aminotransferase), located on Chromosome 10. Is this mutation a likely cause of disease or not? | Pathogenic; Ornithine aminotransferase deficiency | GCTTGCGGGGGCTCAGAGTGAAAGGCTCTTAGAGCAGCGAGGAAGGAAACGCTGTTAAGACCAGGTCTGCAGTTCTGCACAGGGCCCAGGACAAGGCCAGAGACAGGAAAAAGTCTGCTTCTGTGCAGGTTTCTAAGCACTAGGAAGTACTTAAGCTCTTAGAATGCCATCGCCCTCTAGTGGAAAGTAATTTAATCTTTGCATTTATCCAATCAGCAGAATTCAGAGAGGAGTTGGGGAGGAGCCCATTCAGCCTCATCACAAACAGCTAACTCGACATTCAGCCTTATCACAAACAGCTAACGTGACAACCTGGTGCC... | GCTTGCGGGGGCTCAGAGTGAAAGGCTCTTAGAGCAGCGAGGAAGGAAACGCTGTTAAGACCAGGTCTGCAGTTCTGCACAGGGCCCAGGACAAGGCCAGAGACAGGAAAAAGTCTGCTTCTGTGCAGGTTTCTAAGCACTAGGAAGTACTTAAGCTCTTAGAATGCCATCGCCCTCTAGTGGAAAGTAATTTAATCTTTGCATTTATCCAATCAGCAGAATTCAGAGAGGAGTTGGGGAGGAGCCCATTCAGCCTCATCACAAACAGCTAACTCGACATTCAGCCTTATCACAAACAGCTAACGTGACAACCTGGTGCC... |
Task1_train_14690 | Gene OAT (ornithine aminotransferase) on Chromosome 10 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Ornithine aminotransferase deficiency | CTCAGAGTGAAAGGCTCTTAGAGCAGCGAGGAAGGAAACGCTGTTAAGACCAGGTCTGCAGTTCTGCACAGGGCCCAGGACAAGGCCAGAGACAGGAAAAAGTCTGCTTCTGTGCAGGTTTCTAAGCACTAGGAAGTACTTAAGCTCTTAGAATGCCATCGCCCTCTAGTGGAAAGTAATTTAATCTTTGCATTTATCCAATCAGCAGAATTCAGAGAGGAGTTGGGGAGGAGCCCATTCAGCCTCATCACAAACAGCTAACTCGACATTCAGCCTTATCACAAACAGCTAACGTGACAACCTGGTGCCTGGTGCAGAGC... | CTCAGAGTGAAAGGCTCTTAGAGCAGCGAGGAAGGAAACGCTGTTAAGACCAGGTCTGCAGTTCTGCACAGGGCCCAGGACAAGGCCAGAGACAGGAAAAAGTCTGCTTCTGTGCAGGTTTCTAAGCACTAGGAAGTACTTAAGCTCTTAGAATGCCATCGCCCTCTAGTGGAAAGTAATTTAATCTTTGCATTTATCCAATCAGCAGAATTCAGAGAGGAGTTGGGGAGGAGCCCATTCAGCCTCATCACAAACAGCTAACTCGACATTCAGCCTTATCACAAACAGCTAACGTGACAACCTGGTGCCTGGTGCAGAGC... |
Task1_train_14691 | This alteration occurs within gene OAT (ornithine aminotransferase) located on Chromosome 10. Is it associated with a disease or is it a benign variant? | Pathogenic; Ornithine aminotransferase deficiency | GATCACAACTGGCAAGATCCCTATCCTCAGGGAGCTTCCTTTCTAGCAGGGAGAAAACACCTGACATAAACCAGTAAAGCAAGTGAGCTAGATAATTTCAGAGAGGATGACATTCAAGAAGGAAAGACACCATGTAAAATAACAGAGAGGTTGGGAGTTTGTGACATCATGTTTTTATCTTCTCACCACTTCTGCCAGCAGCAACTCCATTAATCAGTGCTGGATTATCGTATTTTGGCTTCATCTCGTTTCTAAATACTATTCTTGCAAAGCCTCTTTCACCAGCATCCCTTACCCACAAGTAATCTCTTCTTTCACTT... | GATCACAACTGGCAAGATCCCTATCCTCAGGGAGCTTCCTTTCTAGCAGGGAGAAAACACCTGACATAAACCAGTAAAGCAAGTGAGCTAGATAATTTCAGAGAGGATGACATTCAAGAAGGAAAGACACCATGTAAAATAACAGAGAGGTTGGGAGTTTGTGACATCATGTTTTTATCTTCTCACCACTTCTGCCAGCAGCAACTCCATTAATCAGTGCTGGATTATCGTATTTTGGCTTCATCTCGTTTCTAAATACTATTCTTGCAAAGCCTCTTTCACCAGCATCCCTTACCCACAAGTAATCTCTTCTTTCACTT... |
Task1_train_14692 | Given this variant in gene OAT (ornithine aminotransferase) on Chromosome 10, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Ornithine aminotransferase deficiency | GAAAGTAAAAACAAGGTTGCCATGTCATGTAATATGAAACAGATTTTCAATAGTTCAAAAGAAGATATGTCTACAGTACTGGTACCAAATAAAATACAAGCAAATGACCAAAATGTGTGATACTCTTATATTGTCATTTTCTGGTACAAAGCTAAGTAATAAACTTTGGTTTTATTTGGTTAAGGCTGTTATTTATTCCAAATTGTAGATTAAATCACCATTTGGCAACTACCACCGTAATCATTTATTCAGGCAAGAATCATTAGTGGATGCTGAAATTGTGAGTAAAAGTTCATGAGTAACTGGATATTTACAGAGTT... | GAAAGTAAAAACAAGGTTGCCATGTCATGTAATATGAAACAGATTTTCAATAGTTCAAAAGAAGATATGTCTACAGTACTGGTACCAAATAAAATACAAGCAAATGACCAAAATGTGTGATACTCTTATATTGTCATTTTCTGGTACAAAGCTAAGTAATAAACTTTGGTTTTATTTGGTTAAGGCTGTTATTTATTCCAAATTGTAGATTAAATCACCATTTGGCAACTACCACCGTAATCATTTATTCAGGCAAGAATCATTAGTGGATGCTGAAATTGTGAGTAAAAGTTCATGAGTAACTGGATATTTACAGAGTT... |
Task1_train_14693 | A mutation on Chromosome 10 affecting OAT (ornithine aminotransferase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Ornithine aminotransferase deficiency | CAAGGTTGCCATGTCATGTAATATGAAACAGATTTTCAATAGTTCAAAAGAAGATATGTCTACAGTACTGGTACCAAATAAAATACAAGCAAATGACCAAAATGTGTGATACTCTTATATTGTCATTTTCTGGTACAAAGCTAAGTAATAAACTTTGGTTTTATTTGGTTAAGGCTGTTATTTATTCCAAATTGTAGATTAAATCACCATTTGGCAACTACCACCGTAATCATTTATTCAGGCAAGAATCATTAGTGGATGCTGAAATTGTGAGTAAAAGTTCATGAGTAACTGGATATTTACAGAGTTTTACACTCTGT... | CAAGGTTGCCATGTCATGTAATATGAAACAGATTTTCAATAGTTCAAAAGAAGATATGTCTACAGTACTGGTACCAAATAAAATACAAGCAAATGACCAAAATGTGTGATACTCTTATATTGTCATTTTCTGGTACAAAGCTAAGTAATAAACTTTGGTTTTATTTGGTTAAGGCTGTTATTTATTCCAAATTGTAGATTAAATCACCATTTGGCAACTACCACCGTAATCATTTATTCAGGCAAGAATCATTAGTGGATGCTGAAATTGTGAGTAAAAGTTCATGAGTAACTGGATATTTACAGAGTTTTACACTCTGT... |
Task1_train_14694 | Located on Chromosome 10, this mutation impacts OAT (ornithine aminotransferase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Ornithine aminotransferase deficiency | AAACTTTGGTTTTATTTGGTTAAGGCTGTTATTTATTCCAAATTGTAGATTAAATCACCATTTGGCAACTACCACCGTAATCATTTATTCAGGCAAGAATCATTAGTGGATGCTGAAATTGTGAGTAAAAGTTCATGAGTAACTGGATATTTACAGAGTTTTACACTCTGTCCCCACAAGATACTTAATACAAAGGGAAAGAAGACCAAGACAACCAAGGATTGAGGAACTGTTCTGGGTTAAAGAAGACTAAACATGACAACTGAATGCAACTCATCGGAGGTTTTTCTTTTGTTATAAAAGAGAACAAATGACATCTG... | AAACTTTGGTTTTATTTGGTTAAGGCTGTTATTTATTCCAAATTGTAGATTAAATCACCATTTGGCAACTACCACCGTAATCATTTATTCAGGCAAGAATCATTAGTGGATGCTGAAATTGTGAGTAAAAGTTCATGAGTAACTGGATATTTACAGAGTTTTACACTCTGTCCCCACAAGATACTTAATACAAAGGGAAAGAAGACCAAGACAACCAAGGATTGAGGAACTGTTCTGGGTTAAAGAAGACTAAACATGACAACTGAATGCAACTCATCGGAGGTTTTTCTTTTGTTATAAAAGAGAACAAATGACATCTG... |
Task1_train_14695 | A variant affecting Chromosome 10, within the gene OAT (ornithine aminotransferase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hyperornithinemia | ACTTTGGTTTTATTTGGTTAAGGCTGTTATTTATTCCAAATTGTAGATTAAATCACCATTTGGCAACTACCACCGTAATCATTTATTCAGGCAAGAATCATTAGTGGATGCTGAAATTGTGAGTAAAAGTTCATGAGTAACTGGATATTTACAGAGTTTTACACTCTGTCCCCACAAGATACTTAATACAAAGGGAAAGAAGACCAAGACAACCAAGGATTGAGGAACTGTTCTGGGTTAAAGAAGACTAAACATGACAACTGAATGCAACTCATCGGAGGTTTTTCTTTTGTTATAAAAGAGAACAAATGACATCTGGA... | ACTTTGGTTTTATTTGGTTAAGGCTGTTATTTATTCCAAATTGTAGATTAAATCACCATTTGGCAACTACCACCGTAATCATTTATTCAGGCAAGAATCATTAGTGGATGCTGAAATTGTGAGTAAAAGTTCATGAGTAACTGGATATTTACAGAGTTTTACACTCTGTCCCCACAAGATACTTAATACAAAGGGAAAGAAGACCAAGACAACCAAGGATTGAGGAACTGTTCTGGGTTAAAGAAGACTAAACATGACAACTGAATGCAACTCATCGGAGGTTTTTCTTTTGTTATAAAAGAGAACAAATGACATCTGGA... |
Task1_train_14696 | Given this variant in gene OAT (ornithine aminotransferase) on Chromosome 10, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Ornithine aminotransferase deficiency | ACTTTGGTTTTATTTGGTTAAGGCTGTTATTTATTCCAAATTGTAGATTAAATCACCATTTGGCAACTACCACCGTAATCATTTATTCAGGCAAGAATCATTAGTGGATGCTGAAATTGTGAGTAAAAGTTCATGAGTAACTGGATATTTACAGAGTTTTACACTCTGTCCCCACAAGATACTTAATACAAAGGGAAAGAAGACCAAGACAACCAAGGATTGAGGAACTGTTCTGGGTTAAAGAAGACTAAACATGACAACTGAATGCAACTCATCGGAGGTTTTTCTTTTGTTATAAAAGAGAACAAATGACATCTGGA... | ACTTTGGTTTTATTTGGTTAAGGCTGTTATTTATTCCAAATTGTAGATTAAATCACCATTTGGCAACTACCACCGTAATCATTTATTCAGGCAAGAATCATTAGTGGATGCTGAAATTGTGAGTAAAAGTTCATGAGTAACTGGATATTTACAGAGTTTTACACTCTGTCCCCACAAGATACTTAATACAAAGGGAAAGAAGACCAAGACAACCAAGGATTGAGGAACTGTTCTGGGTTAAAGAAGACTAAACATGACAACTGAATGCAACTCATCGGAGGTTTTTCTTTTGTTATAAAAGAGAACAAATGACATCTGGA... |
Task1_train_14697 | A change on Chromosome 10 affects gene CTBP2 (C-terminal binding protein 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Pulmonary artery atresia | GAAATGGGGGCGGTGTACACAGTTCCTGCTGAGAAGGCTGATTGTTCTGACCCTGACTTAGCATCTGCGGGAGGTTAAGCTTCCGCCAAGTTTGGGCTTCTCTCCCTGGCCCCGGGGCCGTGGTGCTCACAAGCTGAGACAAAGTCAGTTCCTTTTCTCACCTGTATGTGGCACCATTGAGCTCAGGATGAATTGCTTGCTGGTCTATTACTGACCAAGGCGCTGATGTGACAAAGAATTCCTTGTTCACACAATTTCTTAAGCTTTCTGGGATGCGACCTAGGGTAAGATGATTAAAATTAATCATATTATTTTTACAA... | GAAATGGGGGCGGTGTACACAGTTCCTGCTGAGAAGGCTGATTGTTCTGACCCTGACTTAGCATCTGCGGGAGGTTAAGCTTCCGCCAAGTTTGGGCTTCTCTCCCTGGCCCCGGGGCCGTGGTGCTCACAAGCTGAGACAAAGTCAGTTCCTTTTCTCACCTGTATGTGGCACCATTGAGCTCAGGATGAATTGCTTGCTGGTCTATTACTGACCAAGGCGCTGATGTGACAAAGAATTCCTTGTTCACACAATTTCTTAAGCTTTCTGGGATGCGACCTAGGGTAAGATGATTAAAATTAATCATATTATTTTTACAA... |
Task1_train_14698 | A sequence alteration has been identified in CTBP2 (C-terminal binding protein 2) on Chromosome 10. Is it disease-inducing or harmless? | Pathogenic; Pulmonary artery atresia | ATGCTTCAATCAGTGGGGCTCACACTCTGCAGATCCAGGGCCTGGAGGGCCTGTGGAAAAGCAGCCCAGAGCACCAAGCCCAGATTTGAACCGTGCCGACGGCTATTTCTTTGTTTTTTTTTTTTTTTTTTTTAAAGTTCACAAACCCCTTGAACTTTATCCATGAGATTTTCTGATGACCCAATGACTTAATCCTGCTACTGACTTAATCAAAACCCAGTCCCTACAGAAGAGACCTGCTCCCCCGTCACAGCGCCCCCCCCGGCCCCCCATGCCGCTTATTTTAAAAGCGCAGCTCCCACAGGCTGCCTTTCCTTCAG... | ATGCTTCAATCAGTGGGGCTCACACTCTGCAGATCCAGGGCCTGGAGGGCCTGTGGAAAAGCAGCCCAGAGCACCAAGCCCAGATTTGAACCGTGCCGACGGCTATTTCTTTGTTTTTTTTTTTTTTTTTTTTAAAGTTCACAAACCCCTTGAACTTTATCCATGAGATTTTCTGATGACCCAATGACTTAATCCTGCTACTGACTTAATCAAAACCCAGTCCCTACAGAAGAGACCTGCTCCCCCGTCACAGCGCCCCCCCCGGCCCCCCATGCCGCTTATTTTAAAAGCGCAGCTCCCACAGGCTGCCTTTCCTTCAG... |
Task1_train_14699 | The gene CTBP2 (C-terminal binding protein 2) on Chromosome 10 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Pulmonary artery atresia | GCCCTTTAAAAGGGCCCCGCAGATGTCTTCCAAGCGCCCTTATCAGATGGGACCAGGATCAATGAAAATCCACCACTCACAGCCCTTCTACATTTTCCAAAACCGCAGTCCCTGGTCCTGGTCGTCTTCTGTGGGTCTCAGAACTCAGGGAACACAACCTCCCATCTCGGCCCTCCCAGGCCCCCTGTCATTGAGGCCTTGGTGCCTTTCTGGCCCCACTGCCTGTGCGGGGCACTTCTAGAAATGGAGAAATAGGAAGTTCCACAGGCAAGGACCTCCCCTCTCTCCCTGGAAAGCAGCGTCTGGTCCAGCCGAGGAAG... | GCCCTTTAAAAGGGCCCCGCAGATGTCTTCCAAGCGCCCTTATCAGATGGGACCAGGATCAATGAAAATCCACCACTCACAGCCCTTCTACATTTTCCAAAACCGCAGTCCCTGGTCCTGGTCGTCTTCTGTGGGTCTCAGAACTCAGGGAACACAACCTCCCATCTCGGCCCTCCCAGGCCCCCTGTCATTGAGGCCTTGGTGCCTTTCTGGCCCCACTGCCTGTGCGGGGCACTTCTAGAAATGGAGAAATAGGAAGTTCCACAGGCAAGGACCTCCCCTCTCTCCCTGGAAAGCAGCGTCTGGTCCAGCCGAGGAAG... |
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