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 |
|---|---|---|---|---|
Task1_train_28900 | A variant on Chromosome 22 in gene MLC1 (modulator of VRAC current 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Megalencephalic leukoencephalopathy with subcortical cysts 1 | GTCTGTAATCCTAGCACTTTGGGAGGCCGAGACAGGCAGATCACTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTGCTAAAAGTACAAAAATTAGCCGGGTGTGTTGGCATATGCCTGTAATCCCAGATGCTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACTGTGCCACTGCACTCCAGCCTGGGAGACAGAGTGAGACTCTATCTTAAAAAAAAAAAAATGGCAAGGTACAGAATAGTGATTCTAGTATACAAGCTATTTTGTA... | GTCTGTAATCCTAGCACTTTGGGAGGCCGAGACAGGCAGATCACTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTGCTAAAAGTACAAAAATTAGCCGGGTGTGTTGGCATATGCCTGTAATCCCAGATGCTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACTGTGCCACTGCACTCCAGCCTGGGAGACAGAGTGAGACTCTATCTTAAAAAAAAAAAAATGGCAAGGTACAGAATAGTGATTCTAGTATACAAGCTATTTTGTA... |
Task1_train_28901 | A sequence alteration has been identified in MLC1 (modulator of VRAC current 1) on Chromosome 22. Is it disease-inducing or harmless? | Pathogenic; Megalencephalic leukoencephalopathy with subcortical cysts 1 | CAATCAAGGGCCCTGCCCTGGAAGGGTCCAGGCCTGCAGCCCAGCCCCCAACTCCAGCCCCGAGCACCTGCCTCCAGCCCATGGTGCAGGGCCTGGGCCCCTCTGCCGCACCCAGGCCAGACTCAGGCAGGTGGAGCTGGGTCCCTCACCACGCATGCCTCAGCGCTCTCCTCTCCTCCTGGGGTCTCCTGCCCTGAAGAGAGGGTTGGGAGTGTGGGTGGATTTAGGGGCGCCCAGGGGGCAGCACCTGATGGGCAGGGGGTGCTCTCCGGGAAGATGGAGAGAGCAGAGCCACCCCCGAGGCAGGAGGGGTCTGCGGG... | CAATCAAGGGCCCTGCCCTGGAAGGGTCCAGGCCTGCAGCCCAGCCCCCAACTCCAGCCCCGAGCACCTGCCTCCAGCCCATGGTGCAGGGCCTGGGCCCCTCTGCCGCACCCAGGCCAGACTCAGGCAGGTGGAGCTGGGTCCCTCACCACGCATGCCTCAGCGCTCTCCTCTCCTCCTGGGGTCTCCTGCCCTGAAGAGAGGGTTGGGAGTGTGGGTGGATTTAGGGGCGCCCAGGGGGCAGCACCTGATGGGCAGGGGGTGCTCTCCGGGAAGATGGAGAGAGCAGAGCCACCCCCGAGGCAGGAGGGGTCTGCGGG... |
Task1_train_28902 | An alteration has been detected in MLC1 (modulator of VRAC current 1) on Chromosome 22. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Megalencephalic leukoencephalopathy with subcortical cysts 1 | GTTTTTTGGAGGGTAATGAAACGACTGCAGGCCCTGACCGTATTGGCAGTGACATGAATTTATATGTGTGTTAATATTCATAGAAGCATACATTTTAAAAAGTCAGTGTAGCTGTCTGACAATTTTTTTTTTTTTTTTGAGACGGAGGTTCGCTCTTGTTGCCCAGGCTGGAGAGCAAATGGCGCAATCTCGGCTCACCGCAACCTCTGCCTCCTGGGTTCAAATGATTGTCCTGCCTCAGCCTCCCGAGTAAGCTGGGGTTACAGGCACCTACCAGCACGCCCGGCTAATTTTGTATTTTTAGTAGAGAGGGGTTTCTC... | GTTTTTTGGAGGGTAATGAAACGACTGCAGGCCCTGACCGTATTGGCAGTGACATGAATTTATATGTGTGTTAATATTCATAGAAGCATACATTTTAAAAAGTCAGTGTAGCTGTCTGACAATTTTTTTTTTTTTTTTGAGACGGAGGTTCGCTCTTGTTGCCCAGGCTGGAGAGCAAATGGCGCAATCTCGGCTCACCGCAACCTCTGCCTCCTGGGTTCAAATGATTGTCCTGCCTCAGCCTCCCGAGTAAGCTGGGGTTACAGGCACCTACCAGCACGCCCGGCTAATTTTGTATTTTTAGTAGAGAGGGGTTTCTC... |
Task1_train_28903 | A variant affecting Chromosome 22, within the gene MLC1 (modulator of VRAC current 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Megalencephalic leukoencephalopathy with subcortical cysts 1 | TTTTTTGGAGGGTAATGAAACGACTGCAGGCCCTGACCGTATTGGCAGTGACATGAATTTATATGTGTGTTAATATTCATAGAAGCATACATTTTAAAAAGTCAGTGTAGCTGTCTGACAATTTTTTTTTTTTTTTTGAGACGGAGGTTCGCTCTTGTTGCCCAGGCTGGAGAGCAAATGGCGCAATCTCGGCTCACCGCAACCTCTGCCTCCTGGGTTCAAATGATTGTCCTGCCTCAGCCTCCCGAGTAAGCTGGGGTTACAGGCACCTACCAGCACGCCCGGCTAATTTTGTATTTTTAGTAGAGAGGGGTTTCTCC... | TTTTTTGGAGGGTAATGAAACGACTGCAGGCCCTGACCGTATTGGCAGTGACATGAATTTATATGTGTGTTAATATTCATAGAAGCATACATTTTAAAAAGTCAGTGTAGCTGTCTGACAATTTTTTTTTTTTTTTTGAGACGGAGGTTCGCTCTTGTTGCCCAGGCTGGAGAGCAAATGGCGCAATCTCGGCTCACCGCAACCTCTGCCTCCTGGGTTCAAATGATTGTCCTGCCTCAGCCTCCCGAGTAAGCTGGGGTTACAGGCACCTACCAGCACGCCCGGCTAATTTTGTATTTTTAGTAGAGAGGGGTTTCTCC... |
Task1_train_28904 | The variant affects gene MLC1 (modulator of VRAC current 1), which is on Chromosome 22. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Megalencephalic leukoencephalopathy with subcortical cysts 1 | GAATTTATATGTGTGTTAATATTCATAGAAGCATACATTTTAAAAAGTCAGTGTAGCTGTCTGACAATTTTTTTTTTTTTTTTGAGACGGAGGTTCGCTCTTGTTGCCCAGGCTGGAGAGCAAATGGCGCAATCTCGGCTCACCGCAACCTCTGCCTCCTGGGTTCAAATGATTGTCCTGCCTCAGCCTCCCGAGTAAGCTGGGGTTACAGGCACCTACCAGCACGCCCGGCTAATTTTGTATTTTTAGTAGAGAGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCGCCCACCTCGG... | GAATTTATATGTGTGTTAATATTCATAGAAGCATACATTTTAAAAAGTCAGTGTAGCTGTCTGACAATTTTTTTTTTTTTTTTGAGACGGAGGTTCGCTCTTGTTGCCCAGGCTGGAGAGCAAATGGCGCAATCTCGGCTCACCGCAACCTCTGCCTCCTGGGTTCAAATGATTGTCCTGCCTCAGCCTCCCGAGTAAGCTGGGGTTACAGGCACCTACCAGCACGCCCGGCTAATTTTGTATTTTTAGTAGAGAGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCGCCCACCTCGG... |
Task1_train_28905 | This variant lies on Chromosome 22 and affects the gene LOC125446261, MLC1 (Sharpr-MPRA regulatory region 9327| modulator of VRAC current 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Megalencephalic leukoencephalopathy with subcortical cysts 1 | TGTAATCCCAGTACTTTGGGAGGCTGAGGCGGGTGGATCAGAGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCAGAGACGGCGCCATTGCACTCCAGCCTGTGTGACAGAGCAAGACTCCGTCAAAGAAAGAAAGAAAGAAAAAAAGAAAGAAAGAAAGAGGAAGGAAGGAGCAAAGGAAGTAGCAA... | TGTAATCCCAGTACTTTGGGAGGCTGAGGCGGGTGGATCAGAGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCAGAGACGGCGCCATTGCACTCCAGCCTGTGTGACAGAGCAAGACTCCGTCAAAGAAAGAAAGAAAGAAAAAAAGAAAGAAAGAAAGAGGAAGGAAGGAGCAAAGGAAGTAGCAA... |
Task1_train_28906 | Here is a genetic alteration in LOC125446261, MLC1 (Sharpr-MPRA regulatory region 9327| modulator of VRAC current 1) on Chromosome 22. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Megalencephalic leukoencephalopathy with subcortical cysts 1 | ACTTTGGGAGGCTGAGGCGGGTGGATCAGAGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCAGAGACGGCGCCATTGCACTCCAGCCTGTGTGACAGAGCAAGACTCCGTCAAAGAAAGAAAGAAAGAAAAAAAGAAAGAAAGAAAGAGGAAGGAAGGAGCAAAGGAAGTAGCAAGACTCTGCATGT... | ACTTTGGGAGGCTGAGGCGGGTGGATCAGAGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCAGAGACGGCGCCATTGCACTCCAGCCTGTGTGACAGAGCAAGACTCCGTCAAAGAAAGAAAGAAAGAAAAAAAGAAAGAAAGAAAGAGGAAGGAAGGAGCAAAGGAAGTAGCAAGACTCTGCATGT... |
Task1_train_28907 | The following genetic variant occurs in LOC125446261, MLC1 (Sharpr-MPRA regulatory region 9327| modulator of VRAC current 1) on Chromosome 22. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Megalencephalic leukoencephalopathy with subcortical cysts | ACTTTGGGAGGCTGAGGCGGGTGGATCAGAGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCAGAGACGGCGCCATTGCACTCCAGCCTGTGTGACAGAGCAAGACTCCGTCAAAGAAAGAAAGAAAGAAAAAAAGAAAGAAAGAAAGAGGAAGGAAGGAGCAAAGGAAGTAGCAAGACTCTGCATGT... | ACTTTGGGAGGCTGAGGCGGGTGGATCAGAGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCAGAGACGGCGCCATTGCACTCCAGCCTGTGTGACAGAGCAAGACTCCGTCAAAGAAAGAAAGAAAGAAAAAAAGAAAGAAAGAAAGAGGAAGGAAGGAGCAAAGGAAGTAGCAAGACTCTGCATGT... |
Task1_train_28908 | The gene TUBGCP6 (tubulin gamma complex component 6) is located on Chromosome 22, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Microcephaly and chorioretinopathy 1 | GCGCCTCCAGGTGCAGCTCCACGAAGAAGTAGTCGACAGCGGCCTTGTTCACCAAGGAGATGCTGGCAGGAGGGAGCTGGAGTCAGGGCGGGCCAGGACGGGCTGGGTGGGCAGACTGGCGCAGGGGCAGGGGCACTCACTGGGCGGCCAGCGGTGCCGTGATGGAGCGCTTCATGAGCACGGGCAGCGTCAGCAACTCGCTCAGCTGCACAGCAGTCTCATCAGCGGCAGACTGGACCTGGGGGTCCACGGGGAAGGCGAAGGCCCGGGGAAGCACGGGGCGCAAAAGATGAGCAATGGGCGGCTCGGCTGCGGGAGAT... | GCGCCTCCAGGTGCAGCTCCACGAAGAAGTAGTCGACAGCGGCCTTGTTCACCAAGGAGATGCTGGCAGGAGGGAGCTGGAGTCAGGGCGGGCCAGGACGGGCTGGGTGGGCAGACTGGCGCAGGGGCAGGGGCACTCACTGGGCGGCCAGCGGTGCCGTGATGGAGCGCTTCATGAGCACGGGCAGCGTCAGCAACTCGCTCAGCTGCACAGCAGTCTCATCAGCGGCAGACTGGACCTGGGGGTCCACGGGGAAGGCGAAGGCCCGGGGAAGCACGGGGCGCAAAAGATGAGCAATGGGCGGCTCGGCTGCGGGAGAT... |
Task1_train_28909 | A change on Chromosome 22 affects gene PLXNB2 (plexin B2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; See cases | GGAGCGGGGAGGGCTGTGGGTGCGTCCCTGGTGGTCTCCTTACCCGGGAAATCTCTGCCAGGTGTGTGTTCATGTCCTGGTCGCTGACCTGCACCATCTGCCGGATCCCCTTGTAGTAACTGCAGGGGTGGGAGCATCATACAGTGTGGGCGGCAGGGACCACAAAGGGGGTGGTGGGGGAAACCAAGGCCTGAACCTCCCCGCAGGGGGTCGAGGGTGGGCATGGGGGCCTGGCCTGGAGGGCAGGCAGACTTACTCCTCCACCATCTTCTTGTAGGTGGAGATCTCCTTGGCGTACAGCAGCTTGTTGCTGGGAGAAT... | GGAGCGGGGAGGGCTGTGGGTGCGTCCCTGGTGGTCTCCTTACCCGGGAAATCTCTGCCAGGTGTGTGTTCATGTCCTGGTCGCTGACCTGCACCATCTGCCGGATCCCCTTGTAGTAACTGCAGGGGTGGGAGCATCATACAGTGTGGGCGGCAGGGACCACAAAGGGGGTGGTGGGGGAAACCAAGGCCTGAACCTCCCCGCAGGGGGTCGAGGGTGGGCATGGGGGCCTGGCCTGGAGGGCAGGCAGACTTACTCCTCCACCATCTTCTTGTAGGTGGAGATCTCCTTGGCGTACAGCAGCTTGTTGCTGGGAGAAT... |
Task1_train_28910 | Gene PLXNB2 (plexin B2) on Chromosome 22 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; See cases | GGACCAGCTCTCAGCCCAGACCCGAGCAGGACCCAGACACCCGGGGCTGCACCGTCCTCACCCGGGCGTGGATGAGCTTGTTGACCTGCTTCTTGACGCCACCTGTGAAGTTCTCAAAGGTGGGGTCAGGCACGTACTCGAAGGCCCCGGCCTCTGTTCTGAGCAGGGCACGGTGCCCGTCCATCTCGATCAGCACCGTGAGGTTGTAGGCCTCTGGCTCCTCAGGCACAGCCGGGGACAGGAAGACGACCTTGGTGTCATTGTGGAACACGTAGTCTGTACCCACCACCTGCAGGCAAGTCCCAGCTGTCAGCCCCCGG... | GGACCAGCTCTCAGCCCAGACCCGAGCAGGACCCAGACACCCGGGGCTGCACCGTCCTCACCCGGGCGTGGATGAGCTTGTTGACCTGCTTCTTGACGCCACCTGTGAAGTTCTCAAAGGTGGGGTCAGGCACGTACTCGAAGGCCCCGGCCTCTGTTCTGAGCAGGGCACGGTGCCCGTCCATCTCGATCAGCACCGTGAGGTTGTAGGCCTCTGGCTCCTCAGGCACAGCCGGGGACAGGAAGACGACCTTGGTGTCATTGTGGAACACGTAGTCTGTACCCACCACCTGCAGGCAAGTCCCAGCTGTCAGCCCCCGG... |
Task1_train_28911 | This is a variant in PLXNB2 (plexin B2), located on Chromosome 22. Is this mutation a likely cause of disease or not? | Pathogenic; See cases | CTGTCAGCCCCCGGGCGCAGACCCCGCCCTTCCTGGGCACGATCCCATGGGCCGGTGCCAGAGCTGAGCCCACGCCAGGACTGACCGTCATGGGCTGCAGGGATTCAGCCTCCCGCGGCGGCTGCCAGGACTGCAGGGGCTCCGCGATGACCACCATGGCAAACCTCTGGATCAGGCTGAAGCCCTGACCCGTGACGTTGATGCTGCGGCCACCACTGCGGAGGGCAGTGCCTTCGTGGGCTCGGCTGGCAGGGGTGGTCCCTGCAGCCTCCGCCCTCCCGTCCCCGCCCACCCTGGCCCTGACCACACGGGGCTTCCAG... | CTGTCAGCCCCCGGGCGCAGACCCCGCCCTTCCTGGGCACGATCCCATGGGCCGGTGCCAGAGCTGAGCCCACGCCAGGACTGACCGTCATGGGCTGCAGGGATTCAGCCTCCCGCGGCGGCTGCCAGGACTGCAGGGGCTCCGCGATGACCACCATGGCAAACCTCTGGATCAGGCTGAAGCCCTGACCCGTGACGTTGATGCTGCGGCCACCACTGCGGAGGGCAGTGCCTTCGTGGGCTCGGCTGGCAGGGGTGGTCCCTGCAGCCTCCGCCCTCCCGTCCCCGCCCACCCTGGCCCTGACCACACGGGGCTTCCAG... |
Task1_train_28912 | A variant on Chromosome 22 in gene SBF1 (SET binding factor 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Charcot-Marie-Tooth disease type 4B3 | ACCTGACACCCTTGGCTCCAGCTCCCCAAGGCTGCCTCAGAGGCTCAATATCAGGAGACCCCAGGCCCCAGCACCTGCCCCCAACAATGGTTCTCTCCACCCTGTTCCCTGCAGACCGAGGACCCCTGCCCACTGGCACAGGAGTCTCTTGCACCGTCTCTCCACTCTCACTCACAGACCAGGGTCTGCCCGCCTGTTCCCGCTCATGCGCCATGAGCCATGTCACTAGCAGGATAAGAGGCCTCACCTGCAGGCAGCAGTTCATCATACGGACGACAAAGTCAAACTGCTGGTGGTCCAGGACCGCACGGTTCTGCTGC... | ACCTGACACCCTTGGCTCCAGCTCCCCAAGGCTGCCTCAGAGGCTCAATATCAGGAGACCCCAGGCCCCAGCACCTGCCCCCAACAATGGTTCTCTCCACCCTGTTCCCTGCAGACCGAGGACCCCTGCCCACTGGCACAGGAGTCTCTTGCACCGTCTCTCCACTCTCACTCACAGACCAGGGTCTGCCCGCCTGTTCCCGCTCATGCGCCATGAGCCATGTCACTAGCAGGATAAGAGGCCTCACCTGCAGGCAGCAGTTCATCATACGGACGACAAAGTCAAACTGCTGGTGGTCCAGGACCGCACGGTTCTGCTGC... |
Task1_train_28913 | This variant affects the gene NCAPH2, SCO2 (non-SMC condensin II complex subunit H2| synthesis of cytochrome C oxidase 2) found on Chromosome 22. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | TTTGCACCCTGATCCCCCAGCGGCTCTAAGACAGTCCCTGTTTGCCCCCAGGTAGGCCTTACTCTGTGCCCCCCTGTGTGGAGGAGGCTCTGGGACAGAAGCGCAAGAGGAAGGGCGCTGCCAAGCTGCAGGACTTCCACCAGTGGTACCTGGCTGCCTGTGAGTGGGTGTGGTGTGCACTCCGGACCACTGGGAGCTGGGGGCTGGGCCAGGGCCAGTGGAGGAGGATCAGCACCCTTTTCCCAATGCTGTGGGCAGCTCTTGGCCTGGCTGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGC... | TTTGCACCCTGATCCCCCAGCGGCTCTAAGACAGTCCCTGTTTGCCCCCAGGTAGGCCTTACTCTGTGCCCCCCTGTGTGGAGGAGGCTCTGGGACAGAAGCGCAAGAGGAAGGGCGCTGCCAAGCTGCAGGACTTCCACCAGTGGTACCTGGCTGCCTGTGAGTGGGTGTGGTGTGCACTCCGGACCACTGGGAGCTGGGGGCTGGGCCAGGGCCAGTGGAGGAGGATCAGCACCCTTTTCCCAATGCTGTGGGCAGCTCTTGGCCTGGCTGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGC... |
Task1_train_28914 | A variant was discovered in gene NCAPH2, SCO2 (non-SMC condensin II complex subunit H2| synthesis of cytochrome C oxidase 2), Chromosome 22. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | GAAGCGCAAGAGGAAGGGCGCTGCCAAGCTGCAGGACTTCCACCAGTGGTACCTGGCTGCCTGTGAGTGGGTGTGGTGTGCACTCCGGACCACTGGGAGCTGGGGGCTGGGCCAGGGCCAGTGGAGGAGGATCAGCACCCTTTTCCCAATGCTGTGGGCAGCTCTTGGCCTGGCTGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGT... | GAAGCGCAAGAGGAAGGGCGCTGCCAAGCTGCAGGACTTCCACCAGTGGTACCTGGCTGCCTGTGAGTGGGTGTGGTGTGCACTCCGGACCACTGGGAGCTGGGGGCTGGGCCAGGGCCAGTGGAGGAGGATCAGCACCCTTTTCCCAATGCTGTGGGCAGCTCTTGGCCTGGCTGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGT... |
Task1_train_28915 | Here’s a variant in NCAPH2, SCO2 (non-SMC condensin II complex subunit H2| synthesis of cytochrome C oxidase 2) located on Chromosome 22. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | GAAGCGCAAGAGGAAGGGCGCTGCCAAGCTGCAGGACTTCCACCAGTGGTACCTGGCTGCCTGTGAGTGGGTGTGGTGTGCACTCCGGACCACTGGGAGCTGGGGGCTGGGCCAGGGCCAGTGGAGGAGGATCAGCACCCTTTTCCCAATGCTGTGGGCAGCTCTTGGCCTGGCTGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGT... | GAAGCGCAAGAGGAAGGGCGCTGCCAAGCTGCAGGACTTCCACCAGTGGTACCTGGCTGCCTGTGAGTGGGTGTGGTGTGCACTCCGGACCACTGGGAGCTGGGGGCTGGGCCAGGGCCAGTGGAGGAGGATCAGCACCCTTTTCCCAATGCTGTGGGCAGCTCTTGGCCTGGCTGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGT... |
Task1_train_28916 | Here is a variant affecting NCAPH2, SCO2 (non-SMC condensin II complex subunit H2| synthesis of cytochrome C oxidase 2) on Chromosome 22. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Myopia 6 | GAAGCGCAAGAGGAAGGGCGCTGCCAAGCTGCAGGACTTCCACCAGTGGTACCTGGCTGCCTGTGAGTGGGTGTGGTGTGCACTCCGGACCACTGGGAGCTGGGGGCTGGGCCAGGGCCAGTGGAGGAGGATCAGCACCCTTTTCCCAATGCTGTGGGCAGCTCTTGGCCTGGCTGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGT... | GAAGCGCAAGAGGAAGGGCGCTGCCAAGCTGCAGGACTTCCACCAGTGGTACCTGGCTGCCTGTGAGTGGGTGTGGTGTGCACTCCGGACCACTGGGAGCTGGGGGCTGGGCCAGGGCCAGTGGAGGAGGATCAGCACCCTTTTCCCAATGCTGTGGGCAGCTCTTGGCCTGGCTGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGT... |
Task1_train_28917 | Consider this mutation in NCAPH2, SCO2 (non-SMC condensin II complex subunit H2| synthesis of cytochrome C oxidase 2) on Chromosome 22. Is this a benign change or a disease-causing variant? | Pathogenic; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | AGCTCTTGGCCTGGCTGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTG... | AGCTCTTGGCCTGGCTGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTG... |
Task1_train_28918 | Here is a variant affecting NCAPH2, SCO2 (non-SMC condensin II complex subunit H2| synthesis of cytochrome C oxidase 2) on Chromosome 22. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Myopia 6 | AGCTCTTGGCCTGGCTGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTG... | AGCTCTTGGCCTGGCTGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTG... |
Task1_train_28919 | This variant affects gene NCAPH2, SCO2 (non-SMC condensin II complex subunit H2| synthesis of cytochrome C oxidase 2) located on Chromosome 22. Evaluate its biological effect and specify any disease association. | Pathogenic; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | AGCTCTTGGCCTGGCTGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTG... | AGCTCTTGGCCTGGCTGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTG... |
Task1_train_28920 | This variant lies on Chromosome 22 and affects the gene NCAPH2, SCO2 (non-SMC condensin II complex subunit H2| synthesis of cytochrome C oxidase 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Tip-toe gait | AGCTCTTGGCCTGGCTGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTG... | AGCTCTTGGCCTGGCTGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTG... |
Task1_train_28921 | A genetic alteration is present in NCAPH2, SCO2 (non-SMC condensin II complex subunit H2| synthesis of cytochrome C oxidase 2) on Chromosome 22. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Severe global developmental delay | AGCTCTTGGCCTGGCTGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTG... | AGCTCTTGGCCTGGCTGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTG... |
Task1_train_28922 | Here is a variant affecting NCAPH2, SCO2 (non-SMC condensin II complex subunit H2| synthesis of cytochrome C oxidase 2) on Chromosome 22. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Seizure | AGCTCTTGGCCTGGCTGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTG... | AGCTCTTGGCCTGGCTGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTG... |
Task1_train_28923 | A change on Chromosome 22 affects gene NCAPH2, SCO2 (non-SMC condensin II complex subunit H2| synthesis of cytochrome C oxidase 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | CTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTGGTCAGCTGTGATCTAGGACC... | CTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTGGTCAGCTGTGATCTAGGACC... |
Task1_train_28924 | Chromosome 22 houses a mutation in gene LOC130067862, SCO2, TYMP (ATAC-STARR-seq lymphoblastoid silent region 13986| synthesis of cytochrome C oxidase 2| thymidine phosphorylase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Mitochondrial DNA depletion syndrome 1 | CCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGC... | CCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGC... |
Task1_train_28925 | This mutation is located in gene LOC130067862, SCO2, TYMP (ATAC-STARR-seq lymphoblastoid silent region 13986| synthesis of cytochrome C oxidase 2| thymidine phosphorylase) on Chromosome 22. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Mitochondrial DNA depletion syndrome 1 | CAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGG... | CAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGG... |
Task1_train_28926 | The gene LOC130067862, SCO2, TYMP (ATAC-STARR-seq lymphoblastoid silent region 13986| synthesis of cytochrome C oxidase 2| thymidine phosphorylase) on Chromosome 22 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Mitochondrial neurogastrointestinal encephalomyopathy | CAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGG... | CAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGG... |
Task1_train_28927 | The gene LOC130067862, SCO2, TYMP (ATAC-STARR-seq lymphoblastoid silent region 13986| synthesis of cytochrome C oxidase 2| thymidine phosphorylase) on Chromosome 22 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Mitochondrial DNA depletion syndrome 1 | CAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGG... | CAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGG... |
Task1_train_28928 | With a mutation on Chromosome 22 in gene LOC130067862, SCO2, TYMP (ATAC-STARR-seq lymphoblastoid silent region 13986| synthesis of cytochrome C oxidase 2| thymidine phosphorylase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Mitochondrial DNA depletion syndrome 1 | CGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAA... | CGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAA... |
Task1_train_28929 | Given a variant located on Chromosome 22 and affecting LOC130067862, SCO2, TYMP (ATAC-STARR-seq lymphoblastoid silent region 13986| synthesis of cytochrome C oxidase 2| thymidine phosphorylase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Mitochondrial DNA depletion syndrome 1 | TGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAAC... | TGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAAC... |
Task1_train_28930 | A mutation in LOC130067862, TYMP (ATAC-STARR-seq lymphoblastoid silent region 13986| thymidine phosphorylase), located on Chromosome 22, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Mitochondrial DNA depletion syndrome 1 | ATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACT... | ATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACT... |
Task1_train_28931 | A variant on Chromosome 22 in gene LOC130067862, TYMP (ATAC-STARR-seq lymphoblastoid silent region 13986| thymidine phosphorylase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Mitochondrial DNA depletion syndrome 1 | TGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACG... | TGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACG... |
Task1_train_28932 | A variant has been detected on Chromosome 22 in LOC130067862, TYMP (ATAC-STARR-seq lymphoblastoid silent region 13986| thymidine phosphorylase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Mitochondrial DNA depletion syndrome 1 | TGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACG... | TGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACG... |
Task1_train_28933 | Consider this mutation in TYMP (thymidine phosphorylase) on Chromosome 22. Is this a benign change or a disease-causing variant? | Pathogenic; Mitochondrial DNA depletion syndrome 1 | AACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTAC... | AACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTAC... |
Task1_train_28934 | A sequence alteration has been identified in TYMP (thymidine phosphorylase) on Chromosome 22. Is it disease-inducing or harmless? | Pathogenic; Mitochondrial DNA depletion syndrome 1 | ACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACC... | ACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACC... |
Task1_train_28935 | Mutation context: Chromosome 22, Gene TYMP (thymidine phosphorylase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Mitochondrial DNA depletion syndrome 1 | CCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCT... | CCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCT... |
Task1_train_28936 | Located on Chromosome 22, this mutation impacts TYMP (thymidine phosphorylase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Mitochondrial DNA depletion syndrome 1 | TGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCA... | TGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCA... |
Task1_train_28937 | A variant was discovered in gene TYMP (thymidine phosphorylase), Chromosome 22. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not specified | TGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCA... | TGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCA... |
Task1_train_28938 | This mutation occurs in TYMP (thymidine phosphorylase) on Chromosome 22. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Mitochondrial DNA depletion syndrome 1 | ACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTAC... | ACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTAC... |
Task1_train_28939 | A sequence alteration has been identified in TYMP (thymidine phosphorylase) on Chromosome 22. Is it disease-inducing or harmless? | Pathogenic; not specified | CTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCG... | CTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCG... |
Task1_train_28940 | This variant affects gene TYMP (thymidine phosphorylase) located on Chromosome 22. Evaluate its biological effect and specify any disease association. | Pathogenic; Mitochondrial DNA depletion syndrome 1 | ACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAG... | ACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAG... |
Task1_train_28941 | A variant was discovered in gene TYMP (thymidine phosphorylase), Chromosome 22. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Mitochondrial DNA depletion syndrome 1 | GAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCT... | GAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCT... |
Task1_train_28942 | Located on Chromosome 22, this mutation impacts TYMP (thymidine phosphorylase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Mitochondrial DNA depletion syndrome 1 | CGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCG... | CGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCG... |
Task1_train_28943 | A mutation found in TYMP (thymidine phosphorylase) on Chromosome 22 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Mitochondrial DNA depletion syndrome 1 | AGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCA... | AGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCA... |
Task1_train_28944 | This sequence variant lies in TYMP (thymidine phosphorylase) on Chromosome 22. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Mitochondrial DNA depletion syndrome 1 | CGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGG... | CGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGG... |
Task1_train_28945 | A variant on Chromosome 22 in gene TYMP (thymidine phosphorylase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Mitochondrial DNA depletion syndrome 1 | CCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGG... | CCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGG... |
Task1_train_28946 | The gene TYMP (thymidine phosphorylase) is located on Chromosome 22, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Mitochondrial DNA depletion syndrome 1 | GCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCA... | GCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCA... |
Task1_train_28947 | The following genetic variant occurs in TYMP (thymidine phosphorylase) on Chromosome 22. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Mitochondrial DNA depletion syndrome 1 | GGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGC... | GGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGC... |
Task1_train_28948 | This alteration occurs within gene TYMP (thymidine phosphorylase) located on Chromosome 22. Is it associated with a disease or is it a benign variant? | Pathogenic; Mitochondrial DNA depletion syndrome 1 | CAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCA... | CAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCA... |
Task1_train_28949 | A sequence alteration has been identified in TYMP (thymidine phosphorylase) on Chromosome 22. Is it disease-inducing or harmless? | Pathogenic; Mitochondrial DNA depletion syndrome 1 | GGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGG... | GGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGG... |
Task1_train_28950 | Given this context: Chromosome 22, gene TYMP (thymidine phosphorylase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Mitochondrial DNA depletion syndrome 1 | GAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTT... | GAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTT... |
Task1_train_28951 | A genomic change on Chromosome 22 affects TYMP (thymidine phosphorylase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Mitochondrial DNA depletion syndrome 1 | CAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGG... | CAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGG... |
Task1_train_28952 | A genetic alteration is present in LOC130067864, TYMP (ATAC-STARR-seq lymphoblastoid active region 19325| thymidine phosphorylase) on Chromosome 22. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Mitochondrial DNA depletion syndrome 1 | CGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGC... | CGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGC... |
Task1_train_28953 | A genetic alteration is present in LOC130067864, TYMP (ATAC-STARR-seq lymphoblastoid active region 19325| thymidine phosphorylase) on Chromosome 22. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Mitochondrial DNA depletion syndrome 1 | GCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAG... | GCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAG... |
Task1_train_28954 | Located on Chromosome 22, this mutation impacts LOC130067864, TYMP (ATAC-STARR-seq lymphoblastoid active region 19325| thymidine phosphorylase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Mitochondrial DNA depletion syndrome 1 | GCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAG... | GCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAG... |
Task1_train_28955 | Given this variant in gene TYMP (thymidine phosphorylase) on Chromosome 22, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Mitochondrial DNA depletion syndrome 1 | CGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAG... | CGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAG... |
Task1_train_28956 | Here’s a variant in TYMP (thymidine phosphorylase) located on Chromosome 22. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Mitochondrial DNA depletion syndrome 1 | AGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGG... | AGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGG... |
Task1_train_28957 | Here’s a variant in TYMP (thymidine phosphorylase) located on Chromosome 22. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | GAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCA... | GAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCA... |
Task1_train_28958 | Given this variant in gene ARSA (arylsulfatase A) on Chromosome 22, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Metachromatic leukodystrophy | GGTGGAGGCCTCAAGGGCAAACTGGGTCACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATTAAAACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACT... | GGTGGAGGCCTCAAGGGCAAACTGGGTCACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATTAAAACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACT... |
Task1_train_28959 | Here is a variant affecting ARSA (arylsulfatase A) on Chromosome 22. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Metachromatic leukodystrophy | CTCAAGGGCAAACTGGGTCACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATTAAAACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGC... | CTCAAGGGCAAACTGGGTCACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATTAAAACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGC... |
Task1_train_28960 | Consider this mutation in ARSA (arylsulfatase A) on Chromosome 22. Is this a benign change or a disease-causing variant? | Pathogenic; See cases | CTCAAGGGCAAACTGGGTCACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATTAAAACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGC... | CTCAAGGGCAAACTGGGTCACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATTAAAACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGC... |
Task1_train_28961 | A change on Chromosome 22 affects gene ARSA (arylsulfatase A). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Metachromatic leukodystrophy, juvenile type | AGGGCAAACTGGGTCACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATTAAAACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAG... | AGGGCAAACTGGGTCACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATTAAAACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAG... |
Task1_train_28962 | Consider this mutation in ARSA (arylsulfatase A) on Chromosome 22. Is this a benign change or a disease-causing variant? | Pathogenic; Metachromatic leukodystrophy | AAACTGGGTCACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATTAAAACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGG... | AAACTGGGTCACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATTAAAACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGG... |
Task1_train_28963 | This variant affects gene ARSA (arylsulfatase A) located on Chromosome 22. Evaluate its biological effect and specify any disease association. | Pathogenic; Metachromatic leukodystrophy | ACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCTTGTCTCTATTAAATAAAAAAAAATTAGCTGGGCATGGCAGCACACACCTGTAGTTCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCAGTGAGCGGAGATGGTACCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA... | ACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCTTGTCTCTATTAAATAAAAAAAAATTAGCTGGGCATGGCAGCACACACCTGTAGTTCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCAGTGAGCGGAGATGGTACCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA... |
Task1_train_28964 | A variant was discovered in gene ARSA (arylsulfatase A), Chromosome 22. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Metachromatic leukodystrophy | AAAAAAAAAAAAAAAAAAAAAAACAAAAACAAATCTTTAGAGCTGGGGTCTCACTATGTTGCCCAGGCTGGTCTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGC... | AAAAAAAAAAAAAAAAAAAAAAACAAAAACAAATCTTTAGAGCTGGGGTCTCACTATGTTGCCCAGGCTGGTCTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGC... |
Task1_train_28965 | Given this context: Chromosome 22, gene ARSA (arylsulfatase A) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Metachromatic leukodystrophy | CTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGG... | CTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGG... |
Task1_train_28966 | This variant impacts the gene ARSA (arylsulfatase A) on Chromosome 22. Is the change likely to result in a pathogenic outcome? | Pathogenic; not specified | CTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGG... | CTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGG... |
Task1_train_28967 | This gene mutation involves ARSA (arylsulfatase A) on Chromosome 22. Is it associated with any clinical condition, or is it benign? | Pathogenic; ARYLSULFATASE A PSEUDODEFICIENCY | TTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTG... | TTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTG... |
Task1_train_28968 | Gene ARSA (arylsulfatase A) on Chromosome 22 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Metachromatic leukodystrophy | AGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAG... | AGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAG... |
Task1_train_28969 | This is a variant in ARSA (arylsulfatase A), located on Chromosome 22. Is this mutation a likely cause of disease or not? | Pathogenic; Metachromatic leukodystrophy | CCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCA... | CCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCA... |
Task1_train_28970 | Located on Chromosome 22, this mutation impacts ARSA (arylsulfatase A). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Metachromatic leukodystrophy | CCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCA... | CCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCA... |
Task1_train_28971 | Located on Chromosome 22, this mutation impacts ARSA (arylsulfatase A). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not specified | CCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCA... | CCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCA... |
Task1_train_28972 | Given this context: Chromosome 22, gene ARSA (arylsulfatase A) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Metachromatic leukodystrophy | CTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGG... | CTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGG... |
Task1_train_28973 | The gene ARSA (arylsulfatase A) on Chromosome 22 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Metachromatic leukodystrophy | TCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGG... | TCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGG... |
Task1_train_28974 | Consider a variant on Chromosome 22 in gene ARSA (arylsulfatase A). Determine its clinical classification and disease relevance. | Pathogenic; Metachromatic leukodystrophy, late infantile form | TCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCC... | TCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCC... |
Task1_train_28975 | An alteration has been detected in ARSA (arylsulfatase A) on Chromosome 22. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Metachromatic leukodystrophy | TCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCC... | TCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCC... |
Task1_train_28976 | This mutation occurs in ARSA (arylsulfatase A) on Chromosome 22. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Metachromatic leukodystrophy | CCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCT... | CCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCT... |
Task1_train_28977 | A variant was discovered on Chromosome 22, affecting ARSA (arylsulfatase A). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Metachromatic leukodystrophy | CACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGA... | CACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGA... |
Task1_train_28978 | With a mutation on Chromosome 22 in gene ARSA (arylsulfatase A), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Metachromatic leukodystrophy | CAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTT... | CAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTT... |
Task1_train_28979 | This alteration in ARSA (arylsulfatase A) on Chromosome 22 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Metachromatic leukodystrophy | GGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGC... | GGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGC... |
Task1_train_28980 | A mutation in ARSA (arylsulfatase A), located on Chromosome 22, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Metachromatic leukodystrophy | TGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTC... | TGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTC... |
Task1_train_28981 | This genomic variant is located on Chromosome 22, within the ARSA (arylsulfatase A) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Metachromatic leukodystrophy | AAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACC... | AAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACC... |
Task1_train_28982 | Consider this mutation in ARSA (arylsulfatase A) on Chromosome 22. Is this a benign change or a disease-causing variant? | Pathogenic; not specified | TCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATT... | TCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATT... |
Task1_train_28983 | With a mutation on Chromosome 22 in gene ARSA (arylsulfatase A), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Metachromatic leukodystrophy | TGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAG... | TGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAG... |
Task1_train_28984 | The gene ARSA (arylsulfatase A), on Chromosome 22, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Metachromatic leukodystrophy | GACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGG... | GACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGG... |
Task1_train_28985 | A variant was discovered in gene ARSA (arylsulfatase A), Chromosome 22. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Metachromatic leukodystrophy | AATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAG... | AATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAG... |
Task1_train_28986 | With a mutation on Chromosome 22 in gene ARSA (arylsulfatase A), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Metachromatic leukodystrophy | GTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGG... | GTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGG... |
Task1_train_28987 | A variant was discovered on Chromosome 22, affecting ARSA (arylsulfatase A). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Metachromatic leukodystrophy | TCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTG... | TCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTG... |
Task1_train_28988 | A sequence alteration has been identified in ARSA (arylsulfatase A) on Chromosome 22. Is it disease-inducing or harmless? | Pathogenic; Metachromatic leukodystrophy | GCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTC... | GCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTC... |
Task1_train_28989 | Given this variant in gene ARSA (arylsulfatase A) on Chromosome 22, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; ARYLSULFATASE A PSEUDODEFICIENCY | ACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCT... | ACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCT... |
Task1_train_28990 | A genomic change on Chromosome 22 affects ARSA (arylsulfatase A). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Metachromatic leukodystrophy | CCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACT... | CCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACT... |
Task1_train_28991 | An alteration has been detected in ARSA (arylsulfatase A) on Chromosome 22. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Metachromatic leukodystrophy | GATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGG... | GATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGG... |
Task1_train_28992 | A variant on Chromosome 22 in gene ARSA (arylsulfatase A) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Metachromatic leukodystrophy | AGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCAC... | AGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCAC... |
Task1_train_28993 | This gene mutation involves ARSA (arylsulfatase A) on Chromosome 22. Is it associated with any clinical condition, or is it benign? | Pathogenic; Metachromatic leukodystrophy, adult type | CAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAG... | CAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAG... |
Task1_train_28994 | A variant affecting Chromosome 22, within the gene ARSA (arylsulfatase A), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Metachromatic leukodystrophy | ATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCT... | ATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCT... |
Task1_train_28995 | The gene ARSA (arylsulfatase A) on Chromosome 22 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Metachromatic leukodystrophy | TTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTT... | TTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTT... |
Task1_train_28996 | Gene ARSA (arylsulfatase A), found on Chromosome 22, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Metachromatic leukodystrophy | GGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTC... | GGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTC... |
Task1_train_28997 | Given a variant located on Chromosome 22 and affecting ARSA (arylsulfatase A), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Metachromatic leukodystrophy | GCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGG... | GCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGG... |
Task1_train_28998 | Gene ARSA (arylsulfatase A) on Chromosome 22 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Metachromatic leukodystrophy | AGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGC... | AGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGC... |
Task1_train_28999 | Assess the clinical impact of this variant on gene ARSA (arylsulfatase A), found on Chromosome 22. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Metachromatic leukodystrophy | GACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAG... | GACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAG... |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.