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_12900 | With a mutation on Chromosome 9 in gene GRHPR (glyoxylate and hydroxypyruvate reductase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not specified | GTTTAATCTACCTGCCCCTGGACACTGGCCCACTCAGGGAGCACAGGGACTTACCCAGGTCCTCTCCGAGCCAGCAGAGCAGTCCAGGGCTCCCGTCTTTCAGAGTCCTTTGTTACCATTCCCCATTGTGGGCGGAGCAGCGGGGATGGTGGTGGGTGTGAGGAAGGGCTGGGCACTTTCACTGTCTTTTCCTTCATAAACTGGCAAGCACTACCCTAGCCTTTGTGTGCGCCCCTTAGTCCAGGCGGATCCAGCACCTGGCGGGTCCACAGCCTGGTGAGCAGATGGCAGGCTGGATCTCAAGCATTCCCCACGCCCCT... | GTTTAATCTACCTGCCCCTGGACACTGGCCCACTCAGGGAGCACAGGGACTTACCCAGGTCCTCTCCGAGCCAGCAGAGCAGTCCAGGGCTCCCGTCTTTCAGAGTCCTTTGTTACCATTCCCCATTGTGGGCGGAGCAGCGGGGATGGTGGTGGGTGTGAGGAAGGGCTGGGCACTTTCACTGTCTTTTCCTTCATAAACTGGCAAGCACTACCCTAGCCTTTGTGTGCGCCCCTTAGTCCAGGCGGATCCAGCACCTGGCGGGTCCACAGCCTGGTGAGCAGATGGCAGGCTGGATCTCAAGCATTCCCCACGCCCCT... |
Task1_train_12901 | Chromosome 9 houses a mutation in gene GRHPR (glyoxylate and hydroxypyruvate reductase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Primary hyperoxaluria, type II | TTTAGTCACCCTCCAACAAAGTGTCTTTCCCTCTGTTGTCCTGTAAACTGTAATGTACGAAATAACATATTTTGATGATCGGGGTCTTGGCCTCTTGACATATACGCTAAAAAAATGGGGGTTGTTTTATATGTGTCCTGTGTAAACCTGTCGGCAAATATAGCCACCACTTTTGAATTCTCCTAGATGGCCCTGAATTTTGCCACTTTGAAATAATGTGCTACTCAATCTCAGCAACCAAAAACCATTATCCAGGAATGTTTCTTGTGAGTGAGCGGATTTATTCTGATTCATTATATGTCTGAAACGTTGGGGTGGGG... | TTTAGTCACCCTCCAACAAAGTGTCTTTCCCTCTGTTGTCCTGTAAACTGTAATGTACGAAATAACATATTTTGATGATCGGGGTCTTGGCCTCTTGACATATACGCTAAAAAAATGGGGGTTGTTTTATATGTGTCCTGTGTAAACCTGTCGGCAAATATAGCCACCACTTTTGAATTCTCCTAGATGGCCCTGAATTTTGCCACTTTGAAATAATGTGCTACTCAATCTCAGCAACCAAAAACCATTATCCAGGAATGTTTCTTGTGAGTGAGCGGATTTATTCTGATTCATTATATGTCTGAAACGTTGGGGTGGGG... |
Task1_train_12902 | Consider this mutation in GRHPR (glyoxylate and hydroxypyruvate reductase) on Chromosome 9. Is this a benign change or a disease-causing variant? | Pathogenic; not specified | TTTAGTCACCCTCCAACAAAGTGTCTTTCCCTCTGTTGTCCTGTAAACTGTAATGTACGAAATAACATATTTTGATGATCGGGGTCTTGGCCTCTTGACATATACGCTAAAAAAATGGGGGTTGTTTTATATGTGTCCTGTGTAAACCTGTCGGCAAATATAGCCACCACTTTTGAATTCTCCTAGATGGCCCTGAATTTTGCCACTTTGAAATAATGTGCTACTCAATCTCAGCAACCAAAAACCATTATCCAGGAATGTTTCTTGTGAGTGAGCGGATTTATTCTGATTCATTATATGTCTGAAACGTTGGGGTGGGG... | TTTAGTCACCCTCCAACAAAGTGTCTTTCCCTCTGTTGTCCTGTAAACTGTAATGTACGAAATAACATATTTTGATGATCGGGGTCTTGGCCTCTTGACATATACGCTAAAAAAATGGGGGTTGTTTTATATGTGTCCTGTGTAAACCTGTCGGCAAATATAGCCACCACTTTTGAATTCTCCTAGATGGCCCTGAATTTTGCCACTTTGAAATAATGTGCTACTCAATCTCAGCAACCAAAAACCATTATCCAGGAATGTTTCTTGTGAGTGAGCGGATTTATTCTGATTCATTATATGTCTGAAACGTTGGGGTGGGG... |
Task1_train_12903 | A variant found in Chromosome 9 affects GRHPR (glyoxylate and hydroxypyruvate reductase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Primary hyperoxaluria, type II | CCTCTGTTGTCCTGTAAACTGTAATGTACGAAATAACATATTTTGATGATCGGGGTCTTGGCCTCTTGACATATACGCTAAAAAAATGGGGGTTGTTTTATATGTGTCCTGTGTAAACCTGTCGGCAAATATAGCCACCACTTTTGAATTCTCCTAGATGGCCCTGAATTTTGCCACTTTGAAATAATGTGCTACTCAATCTCAGCAACCAAAAACCATTATCCAGGAATGTTTCTTGTGAGTGAGCGGATTTATTCTGATTCATTATATGTCTGAAACGTTGGGGTGGGGCTGATTAGGGTGGCTCACGCCTATAATCC... | CCTCTGTTGTCCTGTAAACTGTAATGTACGAAATAACATATTTTGATGATCGGGGTCTTGGCCTCTTGACATATACGCTAAAAAAATGGGGGTTGTTTTATATGTGTCCTGTGTAAACCTGTCGGCAAATATAGCCACCACTTTTGAATTCTCCTAGATGGCCCTGAATTTTGCCACTTTGAAATAATGTGCTACTCAATCTCAGCAACCAAAAACCATTATCCAGGAATGTTTCTTGTGAGTGAGCGGATTTATTCTGATTCATTATATGTCTGAAACGTTGGGGTGGGGCTGATTAGGGTGGCTCACGCCTATAATCC... |
Task1_train_12904 | The following genetic variant occurs in GRHPR (glyoxylate and hydroxypyruvate reductase) on Chromosome 9. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Primary hyperoxaluria, type II | AATAACATATTTTGATGATCGGGGTCTTGGCCTCTTGACATATACGCTAAAAAAATGGGGGTTGTTTTATATGTGTCCTGTGTAAACCTGTCGGCAAATATAGCCACCACTTTTGAATTCTCCTAGATGGCCCTGAATTTTGCCACTTTGAAATAATGTGCTACTCAATCTCAGCAACCAAAAACCATTATCCAGGAATGTTTCTTGTGAGTGAGCGGATTTATTCTGATTCATTATATGTCTGAAACGTTGGGGTGGGGCTGATTAGGGTGGCTCACGCCTATAATCCCAGCACTTTAGGAGGCCAAGGCGGGAGGATC... | AATAACATATTTTGATGATCGGGGTCTTGGCCTCTTGACATATACGCTAAAAAAATGGGGGTTGTTTTATATGTGTCCTGTGTAAACCTGTCGGCAAATATAGCCACCACTTTTGAATTCTCCTAGATGGCCCTGAATTTTGCCACTTTGAAATAATGTGCTACTCAATCTCAGCAACCAAAAACCATTATCCAGGAATGTTTCTTGTGAGTGAGCGGATTTATTCTGATTCATTATATGTCTGAAACGTTGGGGTGGGGCTGATTAGGGTGGCTCACGCCTATAATCCCAGCACTTTAGGAGGCCAAGGCGGGAGGATC... |
Task1_train_12905 | The following genetic variant occurs in EXOSC3 (exosome component 3) on Chromosome 9. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Pontocerebellar hypoplasia type 1B | CTGACCTATCCCTACTGAGTCCCCATAGCATTTTGTTCCCTCCTGTGGCTCTTACCTTGTTCTCCCTTGCAGAGTATGGGCATGGAGGGCTTCTCTTCCTAATCCTTCCTAATGGTAGGATCCTAACAGGACAAATCTGTGTACCTATCTTTCTATCCTCCCTGAGCCTGTACCAACTAGATTCTTCATATGTATTTGTAACAGATTAAATTGGAAAGCAAACACAGTATTGATTAAGTCTGTCTTGAAAATAGCTAGAAAGTGTTAGACACATGAACACGTTAGATAACCTACTTATTACACAAATCTCATGTTCCTTA... | CTGACCTATCCCTACTGAGTCCCCATAGCATTTTGTTCCCTCCTGTGGCTCTTACCTTGTTCTCCCTTGCAGAGTATGGGCATGGAGGGCTTCTCTTCCTAATCCTTCCTAATGGTAGGATCCTAACAGGACAAATCTGTGTACCTATCTTTCTATCCTCCCTGAGCCTGTACCAACTAGATTCTTCATATGTATTTGTAACAGATTAAATTGGAAAGCAAACACAGTATTGATTAAGTCTGTCTTGAAAATAGCTAGAAAGTGTTAGACACATGAACACGTTAGATAACCTACTTATTACACAAATCTCATGTTCCTTA... |
Task1_train_12906 | Gene EXOSC3 (exosome component 3) on Chromosome 9 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Pontocerebellar hypoplasia type 1B | AATGATAAAACTCAAAAATATCCTGTAACATGAAATATGTGACTAAAGTTGTGAAATGTATCATGCTGTTTGAAGTAGACAAAAGTATATTACAAAGTGGCATATAAGCTATAATAACTATAATTTCAATTTGATGAATATAGAGAATGTAGGCCAAGTTAAATTCTGTGCCTCAGTTTCAATTATGAGGATAAGTGTCTTCTGCAGTTAGAATAAAGGAGTTAATCCATGCAAAACACAATACTTGGTAAATGAAAAAGTATTTCGTTGTTATATACTCACCCGCTGAATAATGGGACTACAGGTGACATTTCTTTGCT... | AATGATAAAACTCAAAAATATCCTGTAACATGAAATATGTGACTAAAGTTGTGAAATGTATCATGCTGTTTGAAGTAGACAAAAGTATATTACAAAGTGGCATATAAGCTATAATAACTATAATTTCAATTTGATGAATATAGAGAATGTAGGCCAAGTTAAATTCTGTGCCTCAGTTTCAATTATGAGGATAAGTGTCTTCTGCAGTTAGAATAAAGGAGTTAATCCATGCAAAACACAATACTTGGTAAATGAAAAAGTATTTCGTTGTTATATACTCACCCGCTGAATAATGGGACTACAGGTGACATTTCTTTGCT... |
Task1_train_12907 | A variant affecting Chromosome 9, within the gene EXOSC3 (exosome component 3), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hypotonia | AATTATAAAAAGCAGTCAAGCCAGCAGACATCAGGACTTACTTTCTAATTAAGCCCAGAGTCACTTTAAAAAGCAGACCATCCTGTCCAATGACACCCATTCCATTGGCTCGTCCACAGCTGTCAATACAGACCATCTCTGGTTCCATGTCTTTATTAGCAACCACAAACTGGCCATAGATGAGATCTCCAACCTACAATGATATTAAAAACCAGTTCATTTCCTCTCAGCAAACTACAGGTGCTACTATTGGTTCTTTCTCACAGGCATCAATGCCAGCCACCTACAGTTCTGTGGCTAAGGGACTGACTGCACTATAG... | AATTATAAAAAGCAGTCAAGCCAGCAGACATCAGGACTTACTTTCTAATTAAGCCCAGAGTCACTTTAAAAAGCAGACCATCCTGTCCAATGACACCCATTCCATTGGCTCGTCCACAGCTGTCAATACAGACCATCTCTGGTTCCATGTCTTTATTAGCAACCACAAACTGGCCATAGATGAGATCTCCAACCTACAATGATATTAAAAACCAGTTCATTTCCTCTCAGCAAACTACAGGTGCTACTATTGGTTCTTTCTCACAGGCATCAATGCCAGCCACCTACAGTTCTGTGGCTAAGGGACTGACTGCACTATAG... |
Task1_train_12908 | A variant was discovered on Chromosome 9, affecting EXOSC3 (exosome component 3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Inborn genetic diseases | AATTATAAAAAGCAGTCAAGCCAGCAGACATCAGGACTTACTTTCTAATTAAGCCCAGAGTCACTTTAAAAAGCAGACCATCCTGTCCAATGACACCCATTCCATTGGCTCGTCCACAGCTGTCAATACAGACCATCTCTGGTTCCATGTCTTTATTAGCAACCACAAACTGGCCATAGATGAGATCTCCAACCTACAATGATATTAAAAACCAGTTCATTTCCTCTCAGCAAACTACAGGTGCTACTATTGGTTCTTTCTCACAGGCATCAATGCCAGCCACCTACAGTTCTGTGGCTAAGGGACTGACTGCACTATAG... | AATTATAAAAAGCAGTCAAGCCAGCAGACATCAGGACTTACTTTCTAATTAAGCCCAGAGTCACTTTAAAAAGCAGACCATCCTGTCCAATGACACCCATTCCATTGGCTCGTCCACAGCTGTCAATACAGACCATCTCTGGTTCCATGTCTTTATTAGCAACCACAAACTGGCCATAGATGAGATCTCCAACCTACAATGATATTAAAAACCAGTTCATTTCCTCTCAGCAAACTACAGGTGCTACTATTGGTTCTTTCTCACAGGCATCAATGCCAGCCACCTACAGTTCTGTGGCTAAGGGACTGACTGCACTATAG... |
Task1_train_12909 | A variant on Chromosome 9 in gene EXOSC3 (exosome component 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Pontocerebellar hypoplasia type 1B | AATTATAAAAAGCAGTCAAGCCAGCAGACATCAGGACTTACTTTCTAATTAAGCCCAGAGTCACTTTAAAAAGCAGACCATCCTGTCCAATGACACCCATTCCATTGGCTCGTCCACAGCTGTCAATACAGACCATCTCTGGTTCCATGTCTTTATTAGCAACCACAAACTGGCCATAGATGAGATCTCCAACCTACAATGATATTAAAAACCAGTTCATTTCCTCTCAGCAAACTACAGGTGCTACTATTGGTTCTTTCTCACAGGCATCAATGCCAGCCACCTACAGTTCTGTGGCTAAGGGACTGACTGCACTATAG... | AATTATAAAAAGCAGTCAAGCCAGCAGACATCAGGACTTACTTTCTAATTAAGCCCAGAGTCACTTTAAAAAGCAGACCATCCTGTCCAATGACACCCATTCCATTGGCTCGTCCACAGCTGTCAATACAGACCATCTCTGGTTCCATGTCTTTATTAGCAACCACAAACTGGCCATAGATGAGATCTCCAACCTACAATGATATTAAAAACCAGTTCATTTCCTCTCAGCAAACTACAGGTGCTACTATTGGTTCTTTCTCACAGGCATCAATGCCAGCCACCTACAGTTCTGTGGCTAAGGGACTGACTGCACTATAG... |
Task1_train_12910 | Consider this mutation in EXOSC3 (exosome component 3) on Chromosome 9. Is this a benign change or a disease-causing variant? | Pathogenic; See cases | AATTATAAAAAGCAGTCAAGCCAGCAGACATCAGGACTTACTTTCTAATTAAGCCCAGAGTCACTTTAAAAAGCAGACCATCCTGTCCAATGACACCCATTCCATTGGCTCGTCCACAGCTGTCAATACAGACCATCTCTGGTTCCATGTCTTTATTAGCAACCACAAACTGGCCATAGATGAGATCTCCAACCTACAATGATATTAAAAACCAGTTCATTTCCTCTCAGCAAACTACAGGTGCTACTATTGGTTCTTTCTCACAGGCATCAATGCCAGCCACCTACAGTTCTGTGGCTAAGGGACTGACTGCACTATAG... | AATTATAAAAAGCAGTCAAGCCAGCAGACATCAGGACTTACTTTCTAATTAAGCCCAGAGTCACTTTAAAAAGCAGACCATCCTGTCCAATGACACCCATTCCATTGGCTCGTCCACAGCTGTCAATACAGACCATCTCTGGTTCCATGTCTTTATTAGCAACCACAAACTGGCCATAGATGAGATCTCCAACCTACAATGATATTAAAAACCAGTTCATTTCCTCTCAGCAAACTACAGGTGCTACTATTGGTTCTTTCTCACAGGCATCAATGCCAGCCACCTACAGTTCTGTGGCTAAGGGACTGACTGCACTATAG... |
Task1_train_12911 | Gene EXOSC3 (exosome component 3), found on Chromosome 9, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Congenital pontocerebellar hypoplasia type 1 | AATTATAAAAAGCAGTCAAGCCAGCAGACATCAGGACTTACTTTCTAATTAAGCCCAGAGTCACTTTAAAAAGCAGACCATCCTGTCCAATGACACCCATTCCATTGGCTCGTCCACAGCTGTCAATACAGACCATCTCTGGTTCCATGTCTTTATTAGCAACCACAAACTGGCCATAGATGAGATCTCCAACCTACAATGATATTAAAAACCAGTTCATTTCCTCTCAGCAAACTACAGGTGCTACTATTGGTTCTTTCTCACAGGCATCAATGCCAGCCACCTACAGTTCTGTGGCTAAGGGACTGACTGCACTATAG... | AATTATAAAAAGCAGTCAAGCCAGCAGACATCAGGACTTACTTTCTAATTAAGCCCAGAGTCACTTTAAAAAGCAGACCATCCTGTCCAATGACACCCATTCCATTGGCTCGTCCACAGCTGTCAATACAGACCATCTCTGGTTCCATGTCTTTATTAGCAACCACAAACTGGCCATAGATGAGATCTCCAACCTACAATGATATTAAAAACCAGTTCATTTCCTCTCAGCAAACTACAGGTGCTACTATTGGTTCTTTCTCACAGGCATCAATGCCAGCCACCTACAGTTCTGTGGCTAAGGGACTGACTGCACTATAG... |
Task1_train_12912 | A variant on Chromosome 9 in gene EXOSC3 (exosome component 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Abnormality of the nervous system | AATTATAAAAAGCAGTCAAGCCAGCAGACATCAGGACTTACTTTCTAATTAAGCCCAGAGTCACTTTAAAAAGCAGACCATCCTGTCCAATGACACCCATTCCATTGGCTCGTCCACAGCTGTCAATACAGACCATCTCTGGTTCCATGTCTTTATTAGCAACCACAAACTGGCCATAGATGAGATCTCCAACCTACAATGATATTAAAAACCAGTTCATTTCCTCTCAGCAAACTACAGGTGCTACTATTGGTTCTTTCTCACAGGCATCAATGCCAGCCACCTACAGTTCTGTGGCTAAGGGACTGACTGCACTATAG... | AATTATAAAAAGCAGTCAAGCCAGCAGACATCAGGACTTACTTTCTAATTAAGCCCAGAGTCACTTTAAAAAGCAGACCATCCTGTCCAATGACACCCATTCCATTGGCTCGTCCACAGCTGTCAATACAGACCATCTCTGGTTCCATGTCTTTATTAGCAACCACAAACTGGCCATAGATGAGATCTCCAACCTACAATGATATTAAAAACCAGTTCATTTCCTCTCAGCAAACTACAGGTGCTACTATTGGTTCTTTCTCACAGGCATCAATGCCAGCCACCTACAGTTCTGTGGCTAAGGGACTGACTGCACTATAG... |
Task1_train_12913 | This gene mutation involves EXOSC3 (exosome component 3) on Chromosome 9. Is it associated with any clinical condition, or is it benign? | Pathogenic; Pontoneocerebellar hypoplasia | CATAGGGTGCGAAGGGATAGTGCAATCAAGACAGTGGGAACAGCATGTGCAAATAAGGGCAGGAAATTGAGTTTAATGGCGTTTGGTGTGATTTGAGTATGGCTGTATGAAGGATATAATTAGGGATGAGGAAAGACACCTGGAGTGTAATGCCAAGGAATTCTGTAGATTTTGGAGAATCTTGTCTTTTCGAGAAAGTGACCGTGTGAGGATGTCAGCTCTCAAAATCCTGGATGGTGAGGTAAAAGCGTGGAGGCAGGGATTAATGAAGAAGTGACTGAGACCAGTCAAGAGGGAGCTGAAGCCTGAACTTGTGGAGA... | CATAGGGTGCGAAGGGATAGTGCAATCAAGACAGTGGGAACAGCATGTGCAAATAAGGGCAGGAAATTGAGTTTAATGGCGTTTGGTGTGATTTGAGTATGGCTGTATGAAGGATATAATTAGGGATGAGGAAAGACACCTGGAGTGTAATGCCAAGGAATTCTGTAGATTTTGGAGAATCTTGTCTTTTCGAGAAAGTGACCGTGTGAGGATGTCAGCTCTCAAAATCCTGGATGGTGAGGTAAAAGCGTGGAGGCAGGGATTAATGAAGAAGTGACTGAGACCAGTCAAGAGGGAGCTGAAGCCTGAACTTGTGGAGA... |
Task1_train_12914 | Assess the clinical impact of this variant on gene EXOSC3 (exosome component 3), found on Chromosome 9. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Pontocerebellar hypoplasia type 1B | CATAGGGTGCGAAGGGATAGTGCAATCAAGACAGTGGGAACAGCATGTGCAAATAAGGGCAGGAAATTGAGTTTAATGGCGTTTGGTGTGATTTGAGTATGGCTGTATGAAGGATATAATTAGGGATGAGGAAAGACACCTGGAGTGTAATGCCAAGGAATTCTGTAGATTTTGGAGAATCTTGTCTTTTCGAGAAAGTGACCGTGTGAGGATGTCAGCTCTCAAAATCCTGGATGGTGAGGTAAAAGCGTGGAGGCAGGGATTAATGAAGAAGTGACTGAGACCAGTCAAGAGGGAGCTGAAGCCTGAACTTGTGGAGA... | CATAGGGTGCGAAGGGATAGTGCAATCAAGACAGTGGGAACAGCATGTGCAAATAAGGGCAGGAAATTGAGTTTAATGGCGTTTGGTGTGATTTGAGTATGGCTGTATGAAGGATATAATTAGGGATGAGGAAAGACACCTGGAGTGTAATGCCAAGGAATTCTGTAGATTTTGGAGAATCTTGTCTTTTCGAGAAAGTGACCGTGTGAGGATGTCAGCTCTCAAAATCCTGGATGGTGAGGTAAAAGCGTGGAGGCAGGGATTAATGAAGAAGTGACTGAGACCAGTCAAGAGGGAGCTGAAGCCTGAACTTGTGGAGA... |
Task1_train_12915 | A variant on Chromosome 9 in gene PRKACG (protein kinase cAMP-activated catalytic subunit gamma) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Platelet-type bleeding disorder 19 | CAGCCTGGGTGACAGAGTGAGACTTCATGTCAAAAAAAAAAAAAAATTGAAAACAGCACGGGGTGGCAGGGGAGAAGAGGTGAAGGATGGCTGACAGCTAAGCTGGAGAGGGGCACCCAGGATGGGAGAAGGCAGAAGCTGCTGGGTGAATAAAACAGGCAGCCCCTCCCCAGCAACCCTAGCCTTGAACCCTGGGCGATGAGGTGGGGGTGGAGGGGCTGGGCCTCTTCCATGTCCTTTTGCAGGACTGCCTTCCCATAAGGAGAGGCTGGGCATCACAATCTGGCTGAGAATAAAATTAAGGAGTTTCGGGGAAATGC... | CAGCCTGGGTGACAGAGTGAGACTTCATGTCAAAAAAAAAAAAAAATTGAAAACAGCACGGGGTGGCAGGGGAGAAGAGGTGAAGGATGGCTGACAGCTAAGCTGGAGAGGGGCACCCAGGATGGGAGAAGGCAGAAGCTGCTGGGTGAATAAAACAGGCAGCCCCTCCCCAGCAACCCTAGCCTTGAACCCTGGGCGATGAGGTGGGGGTGGAGGGGCTGGGCCTCTTCCATGTCCTTTTGCAGGACTGCCTTCCCATAAGGAGAGGCTGGGCATCACAATCTGGCTGAGAATAAAATTAAGGAGTTTCGGGGAAATGC... |
Task1_train_12916 | Given this context: Chromosome 9, gene FXN, LOC130001862 (frataxin| ATAC-STARR-seq lymphoblastoid silent region 19931) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Friedreich ataxia 1 | AAAACACTACCCTTTGATGCCTATGGGCTCTCCCTTTATGGTTTCAAGGAGGGCTTCTCAATCTTGGCAGAATTTTGGACTGGATAGTTCTTTGTTGCACAGGTGGGGGGCTGTCCTGCACATCACAGGATGTTTCATCCCTGGCCTCTACCTACTAGATGCCAGTAGAACATACCCACCCCACAGCTGCCTGTTGTGACAATCAAAAGCATCTCCAGATACTTTGCAGGGGGAAAATGATTTCTCCAGGCCTGGCATATACATAACAGTATTTAAGCAGCTGCCTAGAATTAATTAAACACAGAAGGATGTCTCTCATC... | AAAACACTACCCTTTGATGCCTATGGGCTCTCCCTTTATGGTTTCAAGGAGGGCTTCTCAATCTTGGCAGAATTTTGGACTGGATAGTTCTTTGTTGCACAGGTGGGGGGCTGTCCTGCACATCACAGGATGTTTCATCCCTGGCCTCTACCTACTAGATGCCAGTAGAACATACCCACCCCACAGCTGCCTGTTGTGACAATCAAAAGCATCTCCAGATACTTTGCAGGGGGAAAATGATTTCTCCAGGCCTGGCATATACATAACAGTATTTAAGCAGCTGCCTAGAATTAATTAAACACAGAAGGATGTCTCTCATC... |
Task1_train_12917 | A mutation on Chromosome 9 affecting FXN (frataxin) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | TGGAATGCAATGGCACGATCACAGCTCACTGCAGCCTTGACCTCCCTGGCTCGGGTGATCCCTCCCACCTCAGGCTCCTGAGGAGCTAGAACTACAGGCATGGGCCATGCCCAGCTAATTTTTTAATTTTTGGTAGAGACGGGGTCTCTGTTGTCTCAGATTCCTGGGTTCAAGTGATCCTTCTCCCTTGGCCTCCCAAAGTTCTGGTATTACAGGCATGAGCCACTGCACCCAGCCCATGGCCAGCTCTTGATACGATCTGTCTCTTTCTTTTCTTTTTTTTTTTTTAATTTGAGAAGTGTTAAATAATCTTTCTTTGA... | TGGAATGCAATGGCACGATCACAGCTCACTGCAGCCTTGACCTCCCTGGCTCGGGTGATCCCTCCCACCTCAGGCTCCTGAGGAGCTAGAACTACAGGCATGGGCCATGCCCAGCTAATTTTTTAATTTTTGGTAGAGACGGGGTCTCTGTTGTCTCAGATTCCTGGGTTCAAGTGATCCTTCTCCCTTGGCCTCCCAAAGTTCTGGTATTACAGGCATGAGCCACTGCACCCAGCCCATGGCCAGCTCTTGATACGATCTGTCTCTTTCTTTTCTTTTTTTTTTTTTAATTTGAGAAGTGTTAAATAATCTTTCTTTGA... |
Task1_train_12918 | This alteration in FXN (frataxin) on Chromosome 9 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Friedreich ataxia 1 | ATCCCAGCACTTTGGGAGGCCGAGGTAGGAGGATCACTTGAGGCCAGAAGTTTGAAACCAGCCTGGTCAATATAGCGAGACCTCATCTCTACAAAAGAAAAATGTTAAAATTAGACAGGTGTGGTGTCTGTAGTCCCAGCTCTCTGGAGGCAGGGACTGAGTCAGAGGATCACTTGAGCATAGGGGTTTGAGGCTGCAGTGAGCCATGATCCTGCCACTGCTGCAGCCTGAGCAACAGAGCAAGACCCTGTTGTAAAAACAAACAAACAAAAACTGGCAGCTGATACCTGAGAGTGAATATCTTTTATCGCTGGTTAATG... | ATCCCAGCACTTTGGGAGGCCGAGGTAGGAGGATCACTTGAGGCCAGAAGTTTGAAACCAGCCTGGTCAATATAGCGAGACCTCATCTCTACAAAAGAAAAATGTTAAAATTAGACAGGTGTGGTGTCTGTAGTCCCAGCTCTCTGGAGGCAGGGACTGAGTCAGAGGATCACTTGAGCATAGGGGTTTGAGGCTGCAGTGAGCCATGATCCTGCCACTGCTGCAGCCTGAGCAACAGAGCAAGACCCTGTTGTAAAAACAAACAAACAAAAACTGGCAGCTGATACCTGAGAGTGAATATCTTTTATCGCTGGTTAATG... |
Task1_train_12919 | This mutation occurs in FXN (frataxin) on Chromosome 9. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Friedreich ataxia 1 | AGGTAGGAGGATCACTTGAGGCCAGAAGTTTGAAACCAGCCTGGTCAATATAGCGAGACCTCATCTCTACAAAAGAAAAATGTTAAAATTAGACAGGTGTGGTGTCTGTAGTCCCAGCTCTCTGGAGGCAGGGACTGAGTCAGAGGATCACTTGAGCATAGGGGTTTGAGGCTGCAGTGAGCCATGATCCTGCCACTGCTGCAGCCTGAGCAACAGAGCAAGACCCTGTTGTAAAAACAAACAAACAAAAACTGGCAGCTGATACCTGAGAGTGAATATCTTTTATCGCTGGTTAATGGGATTGAGAGAATGCTTCATCT... | AGGTAGGAGGATCACTTGAGGCCAGAAGTTTGAAACCAGCCTGGTCAATATAGCGAGACCTCATCTCTACAAAAGAAAAATGTTAAAATTAGACAGGTGTGGTGTCTGTAGTCCCAGCTCTCTGGAGGCAGGGACTGAGTCAGAGGATCACTTGAGCATAGGGGTTTGAGGCTGCAGTGAGCCATGATCCTGCCACTGCTGCAGCCTGAGCAACAGAGCAAGACCCTGTTGTAAAAACAAACAAACAAAAACTGGCAGCTGATACCTGAGAGTGAATATCTTTTATCGCTGGTTAATGGGATTGAGAGAATGCTTCATCT... |
Task1_train_12920 | Given a variant located on Chromosome 9 and affecting FXN (frataxin), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | AGGATCACTTGAGGCCAGAAGTTTGAAACCAGCCTGGTCAATATAGCGAGACCTCATCTCTACAAAAGAAAAATGTTAAAATTAGACAGGTGTGGTGTCTGTAGTCCCAGCTCTCTGGAGGCAGGGACTGAGTCAGAGGATCACTTGAGCATAGGGGTTTGAGGCTGCAGTGAGCCATGATCCTGCCACTGCTGCAGCCTGAGCAACAGAGCAAGACCCTGTTGTAAAAACAAACAAACAAAAACTGGCAGCTGATACCTGAGAGTGAATATCTTTTATCGCTGGTTAATGGGATTGAGAGAATGCTTCATCTTATAGAA... | AGGATCACTTGAGGCCAGAAGTTTGAAACCAGCCTGGTCAATATAGCGAGACCTCATCTCTACAAAAGAAAAATGTTAAAATTAGACAGGTGTGGTGTCTGTAGTCCCAGCTCTCTGGAGGCAGGGACTGAGTCAGAGGATCACTTGAGCATAGGGGTTTGAGGCTGCAGTGAGCCATGATCCTGCCACTGCTGCAGCCTGAGCAACAGAGCAAGACCCTGTTGTAAAAACAAACAAACAAAAACTGGCAGCTGATACCTGAGAGTGAATATCTTTTATCGCTGGTTAATGGGATTGAGAGAATGCTTCATCTTATAGAA... |
Task1_train_12921 | This is a variant in TJP2 (tight junction protein 2), located on Chromosome 9. Is this mutation a likely cause of disease or not? | Pathogenic; Hypercholanemia, familial 1 | CAAGCAATTCACCCGCCTTGGCCTCCCGAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCAGACTTAGCTTTTTAAAACACAAATGAATTAGGATTATGTATTATCTATGCTCACCATTGTGCATTGCTAGACTGATCATGGATGTAATAAATCTTATTTCCGATCTTCCATGCATGAAGAAAAGGGTTTAGTGCTTTGCTTTTCATGAGATCTCAACACATATTTTACGTTCAAATTTTATCTTTAAAATCCAGTTACGGGCCGGGCGCAGTAGCTCACGCCTGTAATCCCCACACTTTGGGAGGCAGAGA... | CAAGCAATTCACCCGCCTTGGCCTCCCGAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCAGACTTAGCTTTTTAAAACACAAATGAATTAGGATTATGTATTATCTATGCTCACCATTGTGCATTGCTAGACTGATCATGGATGTAATAAATCTTATTTCCGATCTTCCATGCATGAAGAAAAGGGTTTAGTGCTTTGCTTTTCATGAGATCTCAACACATATTTTACGTTCAAATTTTATCTTTAAAATCCAGTTACGGGCCGGGCGCAGTAGCTCACGCCTGTAATCCCCACACTTTGGGAGGCAGAGA... |
Task1_train_12922 | A variant has been detected on Chromosome 9 in SMC5 (structural maintenance of chromosomes 5). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Atelis syndrome 2 | GTTTTGTTTACCAAAATGTTGAAAGAAAGGAGAAAACCACCTGTGGGATTCCATTAGGGTCACTTTTTTTGGGGGGGGTTATGTTTGGAATTAGTGACTAATACCTTGTAACTCTTTTTATACATCTGAGTAATGGTTATTCAGTTGTATTGAATAAATACGTTATAAAGCTACCACAGCTGGAGTTAGAAGACTCAAACAGATTAGTTTGAAATATAGTGTATATCAGTGTCTTTTTTTTTTTAATAAAGAATTTAAGAATTCATGGTCAGGTGTGGTGGCTCACGCCTGTAATCTCAGCACTTTGTGAGGCTGAGGCA... | GTTTTGTTTACCAAAATGTTGAAAGAAAGGAGAAAACCACCTGTGGGATTCCATTAGGGTCACTTTTTTTGGGGGGGGTTATGTTTGGAATTAGTGACTAATACCTTGTAACTCTTTTTATACATCTGAGTAATGGTTATTCAGTTGTATTGAATAAATACGTTATAAAGCTACCACAGCTGGAGTTAGAAGACTCAAACAGATTAGTTTGAAATATAGTGTATATCAGTGTCTTTTTTTTTTTAATAAAGAATTTAAGAATTCATGGTCAGGTGTGGTGGCTCACGCCTGTAATCTCAGCACTTTGTGAGGCTGAGGCA... |
Task1_train_12923 | Here’s a variant in TRPM3 (transient receptor potential cation channel subfamily M member 3) located on Chromosome 9. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | GAAATAGGTGGAGTTAATCATTTCTACTTTGAATTAAGAGAAATGCTAGTTACCAACAGAATAAAACAGAAGTCTAAAGAGCAACACATTCTCACCAAAGGGATAAAAAAAGGAGTTAGAAAAATATGTCTTAATGGATGAGACCCAGAAAATGACATAATAAACAGTGAATAACTATAGAAAGCTATTTTAAAATGATTAATAATAAGAGTCACTGTGTCTGTAATTATTTAAAAGTCACTAATTACTTTAAAAATCCCAGGAGGAAAGTTTTCTTTTTCCTGTTTTATAGAAGAAGGGTTGAGACACACAGGGGCAGG... | GAAATAGGTGGAGTTAATCATTTCTACTTTGAATTAAGAGAAATGCTAGTTACCAACAGAATAAAACAGAAGTCTAAAGAGCAACACATTCTCACCAAAGGGATAAAAAAAGGAGTTAGAAAAATATGTCTTAATGGATGAGACCCAGAAAATGACATAATAAACAGTGAATAACTATAGAAAGCTATTTTAAAATGATTAATAATAAGAGTCACTGTGTCTGTAATTATTTAAAAGTCACTAATTACTTTAAAAATCCCAGGAGGAAAGTTTTCTTTTTCCTGTTTTATAGAAGAAGGGTTGAGACACACAGGGGCAGG... |
Task1_train_12924 | A variant was discovered in gene CEMIP2 (cell migration inducing hyaluronidase 2), Chromosome 9. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Hypertelorism | GCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAACACAGGGAATTTAAAGATCATCTAGTCCAGCCCCCACCCACTGCCTGAACCCTCACTACTAACTGTTCTGCCAATTCTCAAACCCACACACTGACAGAAAGCTTGTTCCTTCCTGAAGCAGCTCAATCCTCCCTTCAACAGCACTAATAATCTGGAATCTAATGATCTATAATCTTTCTCTCCAGTTTCTGTCCATACGCTCTTGGTCTCCTCCCCTAGGGCATATGAAGAACCAAATGCATAGTGAGTCCATAAAACAAATGGTGTGTAGATATTAAT... | GCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAACACAGGGAATTTAAAGATCATCTAGTCCAGCCCCCACCCACTGCCTGAACCCTCACTACTAACTGTTCTGCCAATTCTCAAACCCACACACTGACAGAAAGCTTGTTCCTTCCTGAAGCAGCTCAATCCTCCCTTCAACAGCACTAATAATCTGGAATCTAATGATCTATAATCTTTCTCTCCAGTTTCTGTCCATACGCTCTTGGTCTCCTCCCCTAGGGCATATGAAGAACCAAATGCATAGTGAGTCCATAAAACAAATGGTGTGTAGATATTAAT... |
Task1_train_12925 | A mutation in CEMIP2 (cell migration inducing hyaluronidase 2), located on Chromosome 9, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Joint laxity | GCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAACACAGGGAATTTAAAGATCATCTAGTCCAGCCCCCACCCACTGCCTGAACCCTCACTACTAACTGTTCTGCCAATTCTCAAACCCACACACTGACAGAAAGCTTGTTCCTTCCTGAAGCAGCTCAATCCTCCCTTCAACAGCACTAATAATCTGGAATCTAATGATCTATAATCTTTCTCTCCAGTTTCTGTCCATACGCTCTTGGTCTCCTCCCCTAGGGCATATGAAGAACCAAATGCATAGTGAGTCCATAAAACAAATGGTGTGTAGATATTAAT... | GCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAACACAGGGAATTTAAAGATCATCTAGTCCAGCCCCCACCCACTGCCTGAACCCTCACTACTAACTGTTCTGCCAATTCTCAAACCCACACACTGACAGAAAGCTTGTTCCTTCCTGAAGCAGCTCAATCCTCCCTTCAACAGCACTAATAATCTGGAATCTAATGATCTATAATCTTTCTCTCCAGTTTCTGTCCATACGCTCTTGGTCTCCTCCCCTAGGGCATATGAAGAACCAAATGCATAGTGAGTCCATAAAACAAATGGTGTGTAGATATTAAT... |
Task1_train_12926 | The variant affects gene CEMIP2 (cell migration inducing hyaluronidase 2), which is on Chromosome 9. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Abnormal sternum morphology | GCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAACACAGGGAATTTAAAGATCATCTAGTCCAGCCCCCACCCACTGCCTGAACCCTCACTACTAACTGTTCTGCCAATTCTCAAACCCACACACTGACAGAAAGCTTGTTCCTTCCTGAAGCAGCTCAATCCTCCCTTCAACAGCACTAATAATCTGGAATCTAATGATCTATAATCTTTCTCTCCAGTTTCTGTCCATACGCTCTTGGTCTCCTCCCCTAGGGCATATGAAGAACCAAATGCATAGTGAGTCCATAAAACAAATGGTGTGTAGATATTAAT... | GCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAACACAGGGAATTTAAAGATCATCTAGTCCAGCCCCCACCCACTGCCTGAACCCTCACTACTAACTGTTCTGCCAATTCTCAAACCCACACACTGACAGAAAGCTTGTTCCTTCCTGAAGCAGCTCAATCCTCCCTTCAACAGCACTAATAATCTGGAATCTAATGATCTATAATCTTTCTCTCCAGTTTCTGTCCATACGCTCTTGGTCTCCTCCCCTAGGGCATATGAAGAACCAAATGCATAGTGAGTCCATAAAACAAATGGTGTGTAGATATTAAT... |
Task1_train_12927 | An alteration has been detected in CEMIP2 (cell migration inducing hyaluronidase 2) on Chromosome 9. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Myopia | GCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAACACAGGGAATTTAAAGATCATCTAGTCCAGCCCCCACCCACTGCCTGAACCCTCACTACTAACTGTTCTGCCAATTCTCAAACCCACACACTGACAGAAAGCTTGTTCCTTCCTGAAGCAGCTCAATCCTCCCTTCAACAGCACTAATAATCTGGAATCTAATGATCTATAATCTTTCTCTCCAGTTTCTGTCCATACGCTCTTGGTCTCCTCCCCTAGGGCATATGAAGAACCAAATGCATAGTGAGTCCATAAAACAAATGGTGTGTAGATATTAAT... | GCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAACACAGGGAATTTAAAGATCATCTAGTCCAGCCCCCACCCACTGCCTGAACCCTCACTACTAACTGTTCTGCCAATTCTCAAACCCACACACTGACAGAAAGCTTGTTCCTTCCTGAAGCAGCTCAATCCTCCCTTCAACAGCACTAATAATCTGGAATCTAATGATCTATAATCTTTCTCTCCAGTTTCTGTCCATACGCTCTTGGTCTCCTCCCCTAGGGCATATGAAGAACCAAATGCATAGTGAGTCCATAAAACAAATGGTGTGTAGATATTAAT... |
Task1_train_12928 | The gene CEMIP2 (cell migration inducing hyaluronidase 2) is located on Chromosome 9, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Retinal dystrophy | GCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAACACAGGGAATTTAAAGATCATCTAGTCCAGCCCCCACCCACTGCCTGAACCCTCACTACTAACTGTTCTGCCAATTCTCAAACCCACACACTGACAGAAAGCTTGTTCCTTCCTGAAGCAGCTCAATCCTCCCTTCAACAGCACTAATAATCTGGAATCTAATGATCTATAATCTTTCTCTCCAGTTTCTGTCCATACGCTCTTGGTCTCCTCCCCTAGGGCATATGAAGAACCAAATGCATAGTGAGTCCATAAAACAAATGGTGTGTAGATATTAAT... | GCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAACACAGGGAATTTAAAGATCATCTAGTCCAGCCCCCACCCACTGCCTGAACCCTCACTACTAACTGTTCTGCCAATTCTCAAACCCACACACTGACAGAAAGCTTGTTCCTTCCTGAAGCAGCTCAATCCTCCCTTCAACAGCACTAATAATCTGGAATCTAATGATCTATAATCTTTCTCTCCAGTTTCTGTCCATACGCTCTTGGTCTCCTCCCCTAGGGCATATGAAGAACCAAATGCATAGTGAGTCCATAAAACAAATGGTGTGTAGATATTAAT... |
Task1_train_12929 | A genetic alteration is present in CEMIP2 (cell migration inducing hyaluronidase 2) on Chromosome 9. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Inguinal hernia | GCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAACACAGGGAATTTAAAGATCATCTAGTCCAGCCCCCACCCACTGCCTGAACCCTCACTACTAACTGTTCTGCCAATTCTCAAACCCACACACTGACAGAAAGCTTGTTCCTTCCTGAAGCAGCTCAATCCTCCCTTCAACAGCACTAATAATCTGGAATCTAATGATCTATAATCTTTCTCTCCAGTTTCTGTCCATACGCTCTTGGTCTCCTCCCCTAGGGCATATGAAGAACCAAATGCATAGTGAGTCCATAAAACAAATGGTGTGTAGATATTAAT... | GCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAACACAGGGAATTTAAAGATCATCTAGTCCAGCCCCCACCCACTGCCTGAACCCTCACTACTAACTGTTCTGCCAATTCTCAAACCCACACACTGACAGAAAGCTTGTTCCTTCCTGAAGCAGCTCAATCCTCCCTTCAACAGCACTAATAATCTGGAATCTAATGATCTATAATCTTTCTCTCCAGTTTCTGTCCATACGCTCTTGGTCTCCTCCCCTAGGGCATATGAAGAACCAAATGCATAGTGAGTCCATAAAACAAATGGTGTGTAGATATTAAT... |
Task1_train_12930 | The gene TMC1 (transmembrane channel like 1) on Chromosome 9 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Delayed speech and language development | ATATAAAAGATTGCATCCTTTTTCATTTTCATTCTCTGGAAGTGAAGGGGTTCTGGTCAAGTTGTTTTTCTCAAAGTATCTGTATAGTTTTTTTCTACCAGGAACATCAACTATACATTGGACAGAAAATAAGAAAACAATAAATGATATACTGATACAAATATAGATTTTGGGGAAAGACAGAAAAGCAACTAACATTTATTTAACACTTACTATGTGCCAAGCACTGAATTGAATTCTTTTATAAAGTTATATTTAATTCTTACAGTAAAGTAGGAACATAGATATTATTATCTCCTCTTTACAAATGTTATACCAAC... | ATATAAAAGATTGCATCCTTTTTCATTTTCATTCTCTGGAAGTGAAGGGGTTCTGGTCAAGTTGTTTTTCTCAAAGTATCTGTATAGTTTTTTTCTACCAGGAACATCAACTATACATTGGACAGAAAATAAGAAAACAATAAATGATATACTGATACAAATATAGATTTTGGGGAAAGACAGAAAAGCAACTAACATTTATTTAACACTTACTATGTGCCAAGCACTGAATTGAATTCTTTTATAAAGTTATATTTAATTCTTACAGTAAAGTAGGAACATAGATATTATTATCTCCTCTTTACAAATGTTATACCAAC... |
Task1_train_12931 | The variant affects gene TMC1 (transmembrane channel like 1), which is on Chromosome 9. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Bilateral sensorineural hearing impairment | ATATAAAAGATTGCATCCTTTTTCATTTTCATTCTCTGGAAGTGAAGGGGTTCTGGTCAAGTTGTTTTTCTCAAAGTATCTGTATAGTTTTTTTCTACCAGGAACATCAACTATACATTGGACAGAAAATAAGAAAACAATAAATGATATACTGATACAAATATAGATTTTGGGGAAAGACAGAAAAGCAACTAACATTTATTTAACACTTACTATGTGCCAAGCACTGAATTGAATTCTTTTATAAAGTTATATTTAATTCTTACAGTAAAGTAGGAACATAGATATTATTATCTCCTCTTTACAAATGTTATACCAAC... | ATATAAAAGATTGCATCCTTTTTCATTTTCATTCTCTGGAAGTGAAGGGGTTCTGGTCAAGTTGTTTTTCTCAAAGTATCTGTATAGTTTTTTTCTACCAGGAACATCAACTATACATTGGACAGAAAATAAGAAAACAATAAATGATATACTGATACAAATATAGATTTTGGGGAAAGACAGAAAAGCAACTAACATTTATTTAACACTTACTATGTGCCAAGCACTGAATTGAATTCTTTTATAAAGTTATATTTAATTCTTACAGTAAAGTAGGAACATAGATATTATTATCTCCTCTTTACAAATGTTATACCAAC... |
Task1_train_12932 | Here’s a variant in TMC1 (transmembrane channel like 1) located on Chromosome 9. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Intellectual disability, moderate | ATATAAAAGATTGCATCCTTTTTCATTTTCATTCTCTGGAAGTGAAGGGGTTCTGGTCAAGTTGTTTTTCTCAAAGTATCTGTATAGTTTTTTTCTACCAGGAACATCAACTATACATTGGACAGAAAATAAGAAAACAATAAATGATATACTGATACAAATATAGATTTTGGGGAAAGACAGAAAAGCAACTAACATTTATTTAACACTTACTATGTGCCAAGCACTGAATTGAATTCTTTTATAAAGTTATATTTAATTCTTACAGTAAAGTAGGAACATAGATATTATTATCTCCTCTTTACAAATGTTATACCAAC... | ATATAAAAGATTGCATCCTTTTTCATTTTCATTCTCTGGAAGTGAAGGGGTTCTGGTCAAGTTGTTTTTCTCAAAGTATCTGTATAGTTTTTTTCTACCAGGAACATCAACTATACATTGGACAGAAAATAAGAAAACAATAAATGATATACTGATACAAATATAGATTTTGGGGAAAGACAGAAAAGCAACTAACATTTATTTAACACTTACTATGTGCCAAGCACTGAATTGAATTCTTTTATAAAGTTATATTTAATTCTTACAGTAAAGTAGGAACATAGATATTATTATCTCCTCTTTACAAATGTTATACCAAC... |
Task1_train_12933 | The gene TMC1 (transmembrane channel like 1) on Chromosome 9 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 7 | AGCCTAACTGCAGCATCTCCATCTCCATTTCCTCCTGTCCTGTACCTTACTTTCTCTCCCTCTAAATGCTATTCAAATGAAGAAGGCCAGCTCTTTTCCAGGAATTAAACATTATGACCGTAATTTGCCTTTAGAGTATCTGCCCATTTAGTGAATCAGAGAAAGGAGGTTAGACATAGATCATTTAGAATCAGAAAATCATTGGTCATGAGTTGTTGCTAGAGTCTGTTCCCGTTCATAAAATGCTTATGTGTATGATGTGACGTCATTTTGAGCTTGGGCATTTTCAAAGTATGTGCAGATTTAGGCTGTGGGAAGTG... | AGCCTAACTGCAGCATCTCCATCTCCATTTCCTCCTGTCCTGTACCTTACTTTCTCTCCCTCTAAATGCTATTCAAATGAAGAAGGCCAGCTCTTTTCCAGGAATTAAACATTATGACCGTAATTTGCCTTTAGAGTATCTGCCCATTTAGTGAATCAGAGAAAGGAGGTTAGACATAGATCATTTAGAATCAGAAAATCATTGGTCATGAGTTGTTGCTAGAGTCTGTTCCCGTTCATAAAATGCTTATGTGTATGATGTGACGTCATTTTGAGCTTGGGCATTTTCAAAGTATGTGCAGATTTAGGCTGTGGGAAGTG... |
Task1_train_12934 | A variant has been detected on Chromosome 9 in TMC1 (transmembrane channel like 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 36 | CTAACTGCAGCATCTCCATCTCCATTTCCTCCTGTCCTGTACCTTACTTTCTCTCCCTCTAAATGCTATTCAAATGAAGAAGGCCAGCTCTTTTCCAGGAATTAAACATTATGACCGTAATTTGCCTTTAGAGTATCTGCCCATTTAGTGAATCAGAGAAAGGAGGTTAGACATAGATCATTTAGAATCAGAAAATCATTGGTCATGAGTTGTTGCTAGAGTCTGTTCCCGTTCATAAAATGCTTATGTGTATGATGTGACGTCATTTTGAGCTTGGGCATTTTCAAAGTATGTGCAGATTTAGGCTGTGGGAAGTGTAG... | CTAACTGCAGCATCTCCATCTCCATTTCCTCCTGTCCTGTACCTTACTTTCTCTCCCTCTAAATGCTATTCAAATGAAGAAGGCCAGCTCTTTTCCAGGAATTAAACATTATGACCGTAATTTGCCTTTAGAGTATCTGCCCATTTAGTGAATCAGAGAAAGGAGGTTAGACATAGATCATTTAGAATCAGAAAATCATTGGTCATGAGTTGTTGCTAGAGTCTGTTCCCGTTCATAAAATGCTTATGTGTATGATGTGACGTCATTTTGAGCTTGGGCATTTTCAAAGTATGTGCAGATTTAGGCTGTGGGAAGTGTAG... |
Task1_train_12935 | This genomic variant is located on Chromosome 9, within the TMC1 (transmembrane channel like 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 7 | TCTTGGACAGCAAATGATATAATCTACTTACAGAAAAAGGTTCCAAATAACATTCTGAGTATTTCAGAAGTGGTACCAATAGAGACGGGACTAGATATTTTAAAGACTTTAATATACAGTCATGTCATAAAAACTTGTAAAATATAAGTAATTTAGCAGAGGGCTTTTATTTATTTAAAATGAAAAATGTAGGAACACCTCAAAGCATTTACTAAGTTTGCTTTCAAAATGGTCTCATAATTGTAATAGTACATAGAGGTAACATTATCATGCAGCTTTGGTCCATTATTTATATTGGTTATGTTTTTGTATAAATAAAC... | TCTTGGACAGCAAATGATATAATCTACTTACAGAAAAAGGTTCCAAATAACATTCTGAGTATTTCAGAAGTGGTACCAATAGAGACGGGACTAGATATTTTAAAGACTTTAATATACAGTCATGTCATAAAAACTTGTAAAATATAAGTAATTTAGCAGAGGGCTTTTATTTATTTAAAATGAAAAATGTAGGAACACCTCAAAGCATTTACTAAGTTTGCTTTCAAAATGGTCTCATAATTGTAATAGTACATAGAGGTAACATTATCATGCAGCTTTGGTCCATTATTTATATTGGTTATGTTTTTGTATAAATAAAC... |
Task1_train_12936 | Consider this mutation in TMC1 (transmembrane channel like 1) on Chromosome 9. Is this a benign change or a disease-causing variant? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 36 | AACTAAAGAGCTTCTGTACAGCAAAAGAAACTCTCATCAGAGTGAACAGACAACCTACAGAATGGGAGAAAATTTTTGCAATCTATCCATTTGACAAAGATCTAATATCCAGAATCTACAAAGAACTTAAACAAATTTACGAGAAAAAAACATACAACCCCATTAAAAAGTGGGTGAAGGACATGAACAGACACTTCTCAAAGAAGAGATTCACGTGGCCAACAACCATATGAAAAAACACTCAACATCACTGATGATTAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGTCAGAATGGTGATTA... | AACTAAAGAGCTTCTGTACAGCAAAAGAAACTCTCATCAGAGTGAACAGACAACCTACAGAATGGGAGAAAATTTTTGCAATCTATCCATTTGACAAAGATCTAATATCCAGAATCTACAAAGAACTTAAACAAATTTACGAGAAAAAAACATACAACCCCATTAAAAAGTGGGTGAAGGACATGAACAGACACTTCTCAAAGAAGAGATTCACGTGGCCAACAACCATATGAAAAAACACTCAACATCACTGATGATTAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGTCAGAATGGTGATTA... |
Task1_train_12937 | The gene TMC1 (transmembrane channel like 1) on Chromosome 9 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 36 | TCTCCACGTTCAGTAGTTTGGTGGGCCACCTCATGATACCATTCTAAGGAGGCGAAGGCTTAAGATTTGATTTTTAAACAGAGACAGAGAAAGGCTGTTCCAAGGCAACAGATGGGTACGGGCCAACCGAGTAAGCATTTTTCAGATGTGTTCTGTGATCACACAGGGCTCCAGGGGAAAAGTGCTGAAGATCATCCAGAGCAGGGCACTCCCCCAGAAGGAAAAAGACTCAGAGTTAATGTTCTCCAGATAAGAAGCAGTTCATTTTTCTCCATGAAGGACACATTTTTTTTCCATTGATGATTTCAGCACAAAAACTG... | TCTCCACGTTCAGTAGTTTGGTGGGCCACCTCATGATACCATTCTAAGGAGGCGAAGGCTTAAGATTTGATTTTTAAACAGAGACAGAGAAAGGCTGTTCCAAGGCAACAGATGGGTACGGGCCAACCGAGTAAGCATTTTTCAGATGTGTTCTGTGATCACACAGGGCTCCAGGGGAAAAGTGCTGAAGATCATCCAGAGCAGGGCACTCCCCCAGAAGGAAAAAGACTCAGAGTTAATGTTCTCCAGATAAGAAGCAGTTCATTTTTCTCCATGAAGGACACATTTTTTTTCCATTGATGATTTCAGCACAAAAACTG... |
Task1_train_12938 | Here is a variant affecting TMC1 (transmembrane channel like 1) on Chromosome 9. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | TTTAGGCAAGTCTCGATTTTGAATTACGTGCAAAATTATATTTTAGAATTGATCAGGTTATGCAGCAATGAAACAACCTCAAAATCGTAGCAGCTCATAAAAGGAACATGTTCAATGTGGGGTGGAAGAAGAGCTTTGCTCTTAGAACTTACCTTCACTTTAGAGACCCAGACTGATGGAATAGGATCCATCTGAAACATTGCTATCACACTAGCAGAGAATGAAGAGAAGGAAAACCACACAGGACTTTTAAAGTTTCTACCCAGCAGTAAGGACCTAATTTCTATTCATACTTTATTGGCCAAAACAAGTGATGTCAC... | TTTAGGCAAGTCTCGATTTTGAATTACGTGCAAAATTATATTTTAGAATTGATCAGGTTATGCAGCAATGAAACAACCTCAAAATCGTAGCAGCTCATAAAAGGAACATGTTCAATGTGGGGTGGAAGAAGAGCTTTGCTCTTAGAACTTACCTTCACTTTAGAGACCCAGACTGATGGAATAGGATCCATCTGAAACATTGCTATCACACTAGCAGAGAATGAAGAGAAGGAAAACCACACAGGACTTTTAAAGTTTCTACCCAGCAGTAAGGACCTAATTTCTATTCATACTTTATTGGCCAAAACAAGTGATGTCAC... |
Task1_train_12939 | A variant affecting Chromosome 9, within the gene TMC1 (transmembrane channel like 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 36 | GGACCTTGGCTTTCAGGCTTTAAACTGTCTTTGGCTTGGAGGTGGCATTTCACCAGGTACCTGCCCCTATCTGCCTAGGCATTTGGCTGCCTCCTGTTGCTATCAGTATACTAGGTGCAGGTTTTTTAGTATTAAAAGTTAAAATTATATTGTGAGACTGCTATTATATTGGTCATTTGCAATCATGCTTTATGCATCTATTTTTCTTAATAGTTTAGCTGACTTCTAGAGATTGGGGATAGAGAAGTTTCCTCTCTGTGGATCTAGGACACAGTAAAGTGCTGGTCAATAATTTGAATGAATGAATGAATAATGACTGC... | GGACCTTGGCTTTCAGGCTTTAAACTGTCTTTGGCTTGGAGGTGGCATTTCACCAGGTACCTGCCCCTATCTGCCTAGGCATTTGGCTGCCTCCTGTTGCTATCAGTATACTAGGTGCAGGTTTTTTAGTATTAAAAGTTAAAATTATATTGTGAGACTGCTATTATATTGGTCATTTGCAATCATGCTTTATGCATCTATTTTTCTTAATAGTTTAGCTGACTTCTAGAGATTGGGGATAGAGAAGTTTCCTCTCTGTGGATCTAGGACACAGTAAAGTGCTGGTCAATAATTTGAATGAATGAATGAATAATGACTGC... |
Task1_train_12940 | This variant affects the gene TMC1 (transmembrane channel like 1) found on Chromosome 9. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 7 | GGACCTTGGCTTTCAGGCTTTAAACTGTCTTTGGCTTGGAGGTGGCATTTCACCAGGTACCTGCCCCTATCTGCCTAGGCATTTGGCTGCCTCCTGTTGCTATCAGTATACTAGGTGCAGGTTTTTTAGTATTAAAAGTTAAAATTATATTGTGAGACTGCTATTATATTGGTCATTTGCAATCATGCTTTATGCATCTATTTTTCTTAATAGTTTAGCTGACTTCTAGAGATTGGGGATAGAGAAGTTTCCTCTCTGTGGATCTAGGACACAGTAAAGTGCTGGTCAATAATTTGAATGAATGAATGAATAATGACTGC... | GGACCTTGGCTTTCAGGCTTTAAACTGTCTTTGGCTTGGAGGTGGCATTTCACCAGGTACCTGCCCCTATCTGCCTAGGCATTTGGCTGCCTCCTGTTGCTATCAGTATACTAGGTGCAGGTTTTTTAGTATTAAAAGTTAAAATTATATTGTGAGACTGCTATTATATTGGTCATTTGCAATCATGCTTTATGCATCTATTTTTCTTAATAGTTTAGCTGACTTCTAGAGATTGGGGATAGAGAAGTTTCCTCTCTGTGGATCTAGGACACAGTAAAGTGCTGGTCAATAATTTGAATGAATGAATGAATAATGACTGC... |
Task1_train_12941 | The variant affects gene RORB (RAR related orphan receptor B), which is on Chromosome 9. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Inborn genetic diseases | TTTGCTAAGTAGCACTAGAGTATCCAAAGATAAAAACCACACAATTCTGTCTTAAAATGTAAATTTCAAGTCATCTTTAATCAAGACTGATGGGCTGAGGTTATGCTTCCTGACAGTTTTCATGGTATATAAAGTACATCATTTCAATCCCTGGGAGCTTACGTTTGATCTCCATTCTAAGATGCTCCATGAATTCAGTCAAACTGGACAGTCAGAAGTCTCATTCTGCAATCACTGGTTTATTAAATAAGGAATGCACTTGGATCTATAGGGATGAAACTAGTCCCTGTTGAATGGCTAAGCCAGTTGGGACTCTCTCT... | TTTGCTAAGTAGCACTAGAGTATCCAAAGATAAAAACCACACAATTCTGTCTTAAAATGTAAATTTCAAGTCATCTTTAATCAAGACTGATGGGCTGAGGTTATGCTTCCTGACAGTTTTCATGGTATATAAAGTACATCATTTCAATCCCTGGGAGCTTACGTTTGATCTCCATTCTAAGATGCTCCATGAATTCAGTCAAACTGGACAGTCAGAAGTCTCATTCTGCAATCACTGGTTTATTAAATAAGGAATGCACTTGGATCTATAGGGATGAAACTAGTCCCTGTTGAATGGCTAAGCCAGTTGGGACTCTCTCT... |
Task1_train_12942 | Gene TRPM6 (transient receptor potential cation channel subfamily M member 6) on Chromosome 9 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Inborn genetic diseases | AGGCTGAGGTAGGACACCTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCTGGGTGACAAAAGTGAAACTCCGTCTCAAAAAAAAAAAAACGAAGTGACAGAAAAGCCAACTCACATGGGGCCATATAAGTCATTGTAGTGACTTAAACTTTTACCCAGAAGTAAAATGGGAGGCACTGAAGAGTTTGGAGCAGAAGAGTAATATCCTCTGATGTCTGCTTTTAAAGGGTCATTTGGACTACTGTGTTGAGAAAAGAATATAGGGAGTCAAAGACAGAAGCAGAGAGATAAA... | AGGCTGAGGTAGGACACCTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCTGGGTGACAAAAGTGAAACTCCGTCTCAAAAAAAAAAAAACGAAGTGACAGAAAAGCCAACTCACATGGGGCCATATAAGTCATTGTAGTGACTTAAACTTTTACCCAGAAGTAAAATGGGAGGCACTGAAGAGTTTGGAGCAGAAGAGTAATATCCTCTGATGTCTGCTTTTAAAGGGTCATTTGGACTACTGTGTTGAGAAAAGAATATAGGGAGTCAAAGACAGAAGCAGAGAGATAAA... |
Task1_train_12943 | Given this variant in gene TRPM6 (transient receptor potential cation channel subfamily M member 6) on Chromosome 9, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Intestinal hypomagnesemia 1 | ACCTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCTGGGTGACAAAAGTGAAACTCCGTCTCAAAAAAAAAAAAACGAAGTGACAGAAAAGCCAACTCACATGGGGCCATATAAGTCATTGTAGTGACTTAAACTTTTACCCAGAAGTAAAATGGGAGGCACTGAAGAGTTTGGAGCAGAAGAGTAATATCCTCTGATGTCTGCTTTTAAAGGGTCATTTGGACTACTGTGTTGAGAAAAGAATATAGGGAGTCAAAGACAGAAGCAGAGAGATAAATTAGAGGCTCTGTGG... | ACCTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCTGGGTGACAAAAGTGAAACTCCGTCTCAAAAAAAAAAAAACGAAGTGACAGAAAAGCCAACTCACATGGGGCCATATAAGTCATTGTAGTGACTTAAACTTTTACCCAGAAGTAAAATGGGAGGCACTGAAGAGTTTGGAGCAGAAGAGTAATATCCTCTGATGTCTGCTTTTAAAGGGTCATTTGGACTACTGTGTTGAGAAAAGAATATAGGGAGTCAAAGACAGAAGCAGAGAGATAAATTAGAGGCTCTGTGG... |
Task1_train_12944 | This gene mutation involves TRPM6 (transient receptor potential cation channel subfamily M member 6) on Chromosome 9. Is it associated with any clinical condition, or is it benign? | Pathogenic; Intestinal hypomagnesemia 1 | TTGTTTATATGAAGTATTTCAATCATCTCCACACTACTCTATTTGTGTTTCTTTAGGTTAACTGGCCATAAACTCAATGATCTTTTTAAGGCATTAAGTAAAATGAAGCACGACATGCAGTTAGTTATTCAAAGAAAAAGCCTTGCCCAAGCCTGTCTTTTCAATGAATTATGTGAAACTTCCCTACCCACCCACTTCACTGGAAATCAAATAAGAACTATACAATGGACTTAGAACTCTGCCAACTTCAGTTTCTTCCAAGAATGTGAAACAATCTCTATAAAATATGTATGATAAAGTGTGCGTTACCTATTTGTGAT... | TTGTTTATATGAAGTATTTCAATCATCTCCACACTACTCTATTTGTGTTTCTTTAGGTTAACTGGCCATAAACTCAATGATCTTTTTAAGGCATTAAGTAAAATGAAGCACGACATGCAGTTAGTTATTCAAAGAAAAAGCCTTGCCCAAGCCTGTCTTTTCAATGAATTATGTGAAACTTCCCTACCCACCCACTTCACTGGAAATCAAATAAGAACTATACAATGGACTTAGAACTCTGCCAACTTCAGTTTCTTCCAAGAATGTGAAACAATCTCTATAAAATATGTATGATAAAGTGTGCGTTACCTATTTGTGAT... |
Task1_train_12945 | Here is a variant affecting VPS13A (vacuolar protein sorting 13 homolog A) on Chromosome 9. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Chorea-acanthocytosis | TGGTGCGATCTTGGCTCATTGCAACCTATGCCTTCCTGGCTCAAGTAACCCTCCCACCTCAGTCCCCGAGTAGCTGGGACTACAGGTGTACGCCGCCATGCCTGGCTAATTTTTGTAGTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTTGTCTTGAACTCCTGGACTCAAGGGATCCTCCTACCACAGCCACCCAAAATGCTGGGGTTACAGATGTGAGCCACTGCGCCTGGTCAAGTTTGGATTTTTTAAAAAAACATTTGTGGTGAAAATGGCACACTGTTAATATGTGTTTATTATTTTTACAGTTTTG... | TGGTGCGATCTTGGCTCATTGCAACCTATGCCTTCCTGGCTCAAGTAACCCTCCCACCTCAGTCCCCGAGTAGCTGGGACTACAGGTGTACGCCGCCATGCCTGGCTAATTTTTGTAGTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTTGTCTTGAACTCCTGGACTCAAGGGATCCTCCTACCACAGCCACCCAAAATGCTGGGGTTACAGATGTGAGCCACTGCGCCTGGTCAAGTTTGGATTTTTTAAAAAAACATTTGTGGTGAAAATGGCACACTGTTAATATGTGTTTATTATTTTTACAGTTTTG... |
Task1_train_12946 | A mutation in VPS13A (vacuolar protein sorting 13 homolog A), located on Chromosome 9, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Chorea-acanthocytosis | TTCAAAAGCATTTTCACCTCCTACATATTAAATTTTACTAATTTATTTTGTTTACTATTTATTTTCACTCCCCCACTAAAATGAAGCTCCAGAATGACAGAGATGTTCACTGATAACGGCTGTAACACCTAGAATAGTGCCTCAGTAGTAGCTTAATAGGTAGTAGTTGAATGAATTCATGTTTTTAAATTTGTAATATGCTCACTTGTAATTGAGGCTGTTCTGAAATTTTAGTGAAGGTATTGTAATTCATGTAATAAACCAGTTAAAATAAATGTTAATAACTTAGTATTAAATACTATGATTTTTGCTTTCTTAAA... | TTCAAAAGCATTTTCACCTCCTACATATTAAATTTTACTAATTTATTTTGTTTACTATTTATTTTCACTCCCCCACTAAAATGAAGCTCCAGAATGACAGAGATGTTCACTGATAACGGCTGTAACACCTAGAATAGTGCCTCAGTAGTAGCTTAATAGGTAGTAGTTGAATGAATTCATGTTTTTAAATTTGTAATATGCTCACTTGTAATTGAGGCTGTTCTGAAATTTTAGTGAAGGTATTGTAATTCATGTAATAAACCAGTTAAAATAAATGTTAATAACTTAGTATTAAATACTATGATTTTTGCTTTCTTAAA... |
Task1_train_12947 | A mutation on Chromosome 9 affecting GNA14 (G protein subunit alpha 14) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | GCATTGGGGGAATTACGATCTGGAATGTATTAAAGCTTTAAAATTATTATGATCTGAATGATAATGATCTCCAAGGAAATAAAATATATGAAAACTTCCCAGACAGTATACAGAGTGGATATAATACATATCTACAACCAGGAGGGGAAAGTCTGGAGTGGCAACCACTTAATTTTTCTCCAAATATTTTGTGATTTTTAGAAGAGAAAATGTTTAATTTCTAAGCACTTTGGGCTGAGATACTGGTCCCTTGTGCACCTTACTAATCGTTTGAGTTTCCTGAGGAACGTCACAAATAATTCCTGAAACAAATTTGCAGC... | GCATTGGGGGAATTACGATCTGGAATGTATTAAAGCTTTAAAATTATTATGATCTGAATGATAATGATCTCCAAGGAAATAAAATATATGAAAACTTCCCAGACAGTATACAGAGTGGATATAATACATATCTACAACCAGGAGGGGAAAGTCTGGAGTGGCAACCACTTAATTTTTCTCCAAATATTTTGTGATTTTTAGAAGAGAAAATGTTTAATTTCTAAGCACTTTGGGCTGAGATACTGGTCCCTTGTGCACCTTACTAATCGTTTGAGTTTCCTGAGGAACGTCACAAATAATTCCTGAAACAAATTTGCAGC... |
Task1_train_12948 | This variant affects the gene GNAQ (G protein subunit alpha q) found on Chromosome 9. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Familial multiple nevi flammei | ATGGAATAAATGATCTGTAATGTTCAGATAACTGAAGAACCAGATTCAATTCGGTTGAACTGAATTAGCTGATGAGTTGCCAAAGGATTCTACTTTCTTTTCTATTTTGATAATTTTGAAGTGGTAAATTGATAAGTATTACATCATGACATATACTTCTTCATATATATATAATGCATTTATCTTGTGGAAAATGTGTATTGATAAACACTTGTCCTCCTCTAGCTATAATGTAAACATCAGAAATAAATTCACATTTGCTTCTTACATCTCTTGTGTAATTGATAAATGCAAATTTTATTTTACTGGATGGCAAATTA... | ATGGAATAAATGATCTGTAATGTTCAGATAACTGAAGAACCAGATTCAATTCGGTTGAACTGAATTAGCTGATGAGTTGCCAAAGGATTCTACTTTCTTTTCTATTTTGATAATTTTGAAGTGGTAAATTGATAAGTATTACATCATGACATATACTTCTTCATATATATATAATGCATTTATCTTGTGGAAAATGTGTATTGATAAACACTTGTCCTCCTCTAGCTATAATGTAAACATCAGAAATAAATTCACATTTGCTTCTTACATCTCTTGTGTAATTGATAAATGCAAATTTTATTTTACTGGATGGCAAATTA... |
Task1_train_12949 | A variant found in Chromosome 9 affects GNAQ (G protein subunit alpha q). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Familial multiple nevi flammei | ATGGAATAAATGATCTGTAATGTTCAGATAACTGAAGAACCAGATTCAATTCGGTTGAACTGAATTAGCTGATGAGTTGCCAAAGGATTCTACTTTCTTTTCTATTTTGATAATTTTGAAGTGGTAAATTGATAAGTATTACATCATGACATATACTTCTTCATATATATATAATGCATTTATCTTGTGGAAAATGTGTATTGATAAACACTTGTCCTCCTCTAGCTATAATGTAAACATCAGAAATAAATTCACATTTGCTTCTTACATCTCTTGTGTAATTGATAAATGCAAATTTTATTTTACTGGATGGCAAATTA... | ATGGAATAAATGATCTGTAATGTTCAGATAACTGAAGAACCAGATTCAATTCGGTTGAACTGAATTAGCTGATGAGTTGCCAAAGGATTCTACTTTCTTTTCTATTTTGATAATTTTGAAGTGGTAAATTGATAAGTATTACATCATGACATATACTTCTTCATATATATATAATGCATTTATCTTGTGGAAAATGTGTATTGATAAACACTTGTCCTCCTCTAGCTATAATGTAAACATCAGAAATAAATTCACATTTGCTTCTTACATCTCTTGTGTAATTGATAAATGCAAATTTTATTTTACTGGATGGCAAATTA... |
Task1_train_12950 | This variant lies on Chromosome 9 and affects the gene GNAQ (G protein subunit alpha q). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Sturge-Weber syndrome | TGGAATAAATGATCTGTAATGTTCAGATAACTGAAGAACCAGATTCAATTCGGTTGAACTGAATTAGCTGATGAGTTGCCAAAGGATTCTACTTTCTTTTCTATTTTGATAATTTTGAAGTGGTAAATTGATAAGTATTACATCATGACATATACTTCTTCATATATATATAATGCATTTATCTTGTGGAAAATGTGTATTGATAAACACTTGTCCTCCTCTAGCTATAATGTAAACATCAGAAATAAATTCACATTTGCTTCTTACATCTCTTGTGTAATTGATAAATGCAAATTTTATTTTACTGGATGGCAAATTAA... | TGGAATAAATGATCTGTAATGTTCAGATAACTGAAGAACCAGATTCAATTCGGTTGAACTGAATTAGCTGATGAGTTGCCAAAGGATTCTACTTTCTTTTCTATTTTGATAATTTTGAAGTGGTAAATTGATAAGTATTACATCATGACATATACTTCTTCATATATATATAATGCATTTATCTTGTGGAAAATGTGTATTGATAAACACTTGTCCTCCTCTAGCTATAATGTAAACATCAGAAATAAATTCACATTTGCTTCTTACATCTCTTGTGTAATTGATAAATGCAAATTTTATTTTACTGGATGGCAAATTAA... |
Task1_train_12951 | The gene GNAQ (G protein subunit alpha q), on Chromosome 9, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Segmental undergrowth associated with capillary malformation | TGCAGTTGCTCCTGGTGTTTTCCTGCCTCCTGACATTAAACCTAAACAAGAACTAAGATCTTCTAAGTCACTACTCGTAAGCCTAGTAAGGCACAGGAGAGAGATCTAAGGGGCAAAACAATGCATTCAGGGAGATCCACGTACTATGGACATCAAAGCCAGAATTCTTAGATCTTCGGAAGTATTAAAATGCTGGCTCTTCCCTAATGCCAAGGTGTGAATAATACGCTACTAATTTACGTGAAATCCTCATTCCATGAAACTCTGTCACACTGGGCCGTAAAAGATGCTTCTGATGGTGGTGGAAAATTATACTTCTA... | TGCAGTTGCTCCTGGTGTTTTCCTGCCTCCTGACATTAAACCTAAACAAGAACTAAGATCTTCTAAGTCACTACTCGTAAGCCTAGTAAGGCACAGGAGAGAGATCTAAGGGGCAAAACAATGCATTCAGGGAGATCCACGTACTATGGACATCAAAGCCAGAATTCTTAGATCTTCGGAAGTATTAAAATGCTGGCTCTTCCCTAATGCCAAGGTGTGAATAATACGCTACTAATTTACGTGAAATCCTCATTCCATGAAACTCTGTCACACTGGGCCGTAAAAGATGCTTCTGATGGTGGTGGAAAATTATACTTCTA... |
Task1_train_12952 | This alteration occurs within gene GNAQ (G protein subunit alpha q) located on Chromosome 9. Is it associated with a disease or is it a benign variant? | Pathogenic; Sturge-Weber syndrome | CAGGGCAAGGTCCTGAAGGATTCTTCTGGAACATCTAAGAAATAAGATTTTGGGGGATAAAATTCAGGGAGATTATATTTTAGTGTGTAAACTGGCAGTGTGGTGTGTATATATAAAAAACAAATAGCACACACATGGTAAGTCAGGCAGAATTCATCAGATCATCATATTATTAACTGACCGTAAACTGGAAAACTCGCTGGTATTAAAAAAATAAACAACAAACAAACTCAACACAATTACAACTACAAGGAAACAAGCATGCTAACGATTTCAGAAACCACTGAGATTTCTTGGGGCAGGGAGAACCCTGATCCTTT... | CAGGGCAAGGTCCTGAAGGATTCTTCTGGAACATCTAAGAAATAAGATTTTGGGGGATAAAATTCAGGGAGATTATATTTTAGTGTGTAAACTGGCAGTGTGGTGTGTATATATAAAAAACAAATAGCACACACATGGTAAGTCAGGCAGAATTCATCAGATCATCATATTATTAACTGACCGTAAACTGGAAAACTCGCTGGTATTAAAAAAATAAACAACAAACAAACTCAACACAATTACAACTACAAGGAAACAAGCATGCTAACGATTTCAGAAACCACTGAGATTTCTTGGGGCAGGGAGAACCCTGATCCTTT... |
Task1_train_12953 | A variant was discovered in gene PSAT1 (phosphoserine aminotransferase 1), Chromosome 9. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Neu-Laxova syndrome 2 | TGAGCCAGGGTTGACCACAGTTGAACCATGTCGACTGAGAGTGGCAGAGGGGTAATTTCCTAAAGGAACATCAGGCTGTTGTCACTAAGAAGAGGAGGAAGAGCTTCAGGTCAAACAGTAACCCTAGGCTTTCAACACAGTCTCCAGTAAATAGTTGTCCAAGGATTGCATAAATAAATGAGTGAATTAGGGAAGACAAAGTAGTATTGTAACATTACCATATTTCTTGTAGTAAATCCACCCAAGTTAAAGCACTTGGTAGAGCATCACTTGTTCTCAATCTTTGACCACATGAGTTTATGTATTGACTGTTACCTATG... | TGAGCCAGGGTTGACCACAGTTGAACCATGTCGACTGAGAGTGGCAGAGGGGTAATTTCCTAAAGGAACATCAGGCTGTTGTCACTAAGAAGAGGAGGAAGAGCTTCAGGTCAAACAGTAACCCTAGGCTTTCAACACAGTCTCCAGTAAATAGTTGTCCAAGGATTGCATAAATAAATGAGTGAATTAGGGAAGACAAAGTAGTATTGTAACATTACCATATTTCTTGTAGTAAATCCACCCAAGTTAAAGCACTTGGTAGAGCATCACTTGTTCTCAATCTTTGACCACATGAGTTTATGTATTGACTGTTACCTATG... |
Task1_train_12954 | A genomic change on Chromosome 9 affects HNRNPK (heterogeneous nuclear ribonucleoprotein K). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Au-Kline syndrome | CAAGATACTACACAAAACATCCACAGGAACTTTTTTCATCTTTTTTTTTTTTGAATTGTACACAAACATTTCCTACATAATCCAACATACAACAGAGAAATGGTACATCTTTTTCTTTCAATTTGCATACAATGGAAAAACAAGTATATATATATTTTACAAAGTTTAACTAATAAGACACTAGAGCAAATTGACAGTTTAAGTCTATAGGTGAGAAATTATCTAATAAAAATAATCAATTTTTTCAGCATTAGTCACTTCCATAACCAAGTGTTATTCTGATTAATAAAACTTGCTGCCAATCAGAATTCTGGTATATA... | CAAGATACTACACAAAACATCCACAGGAACTTTTTTCATCTTTTTTTTTTTTGAATTGTACACAAACATTTCCTACATAATCCAACATACAACAGAGAAATGGTACATCTTTTTCTTTCAATTTGCATACAATGGAAAAACAAGTATATATATATTTTACAAAGTTTAACTAATAAGACACTAGAGCAAATTGACAGTTTAAGTCTATAGGTGAGAAATTATCTAATAAAAATAATCAATTTTTTCAGCATTAGTCACTTCCATAACCAAGTGTTATTCTGATTAATAAAACTTGCTGCCAATCAGAATTCTGGTATATA... |
Task1_train_12955 | The gene HNRNPK, HNRNPK-AS1 (heterogeneous nuclear ribonucleoprotein K| HNRNPK antisense RNA 1) is located on Chromosome 9, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | TCTGCCATTCTGATGGGCTCCATGTATCTATTGCAGAGTCCCAAGTTTCATCAGCACTGAAACCAACCTGTTAGAGATAAAAACATTAACATGAACCCGCATTGTATTTTGTTATAGAGCTGTTTTTAATATGCCTAATTTGCATGTTACATTAAAACAAAAGAGGGTACATATATAGGCAGCAATTTTGTAATCGAGGGGAACAAAGCTCAATAAAGTCGTAATCCTCCAGCAGCAAATAACAGAATTATTTAACTAGTAATCCAAACAAAATTTACTTGTAAGAAAAACTTTTTAATCACTATAACCTTCAACAAAAC... | TCTGCCATTCTGATGGGCTCCATGTATCTATTGCAGAGTCCCAAGTTTCATCAGCACTGAAACCAACCTGTTAGAGATAAAAACATTAACATGAACCCGCATTGTATTTTGTTATAGAGCTGTTTTTAATATGCCTAATTTGCATGTTACATTAAAACAAAAGAGGGTACATATATAGGCAGCAATTTTGTAATCGAGGGGAACAAAGCTCAATAAAGTCGTAATCCTCCAGCAGCAAATAACAGAATTATTTAACTAGTAATCCAAACAAAATTTACTTGTAAGAAAAACTTTTTAATCACTATAACCTTCAACAAAAC... |
Task1_train_12956 | The gene NTRK2 (neurotrophic receptor tyrosine kinase 2), on Chromosome 9, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Obesity, hyperphagia, and developmental delay | CACCCAAAATCACACAGCAAGTGTAGGACAGGATCCAAATTCATTTCACATATCCCGGAGCTTTGGCCACTGTGCCGCTTCTTACCTTGAGTAGGTGCTTTTGAGCTGAAGAAAGCCCTGGAGCATTTTCCCAGCATTGTTCCTCAATGTGACAAGAGGCAGCTGGGGGTTGTGGTTTGAGTAGAGGTGAAATATGTTAGGACTGGCTTGTACAAAAACAGGAAACTCCTCCCCAGGGAATGGTTAAATCCAGGTATTTAGAGACAGGAAGAACCTAAGAAATTACCCAGTATAATATTCCTCTGTATTTTTGACTAATG... | CACCCAAAATCACACAGCAAGTGTAGGACAGGATCCAAATTCATTTCACATATCCCGGAGCTTTGGCCACTGTGCCGCTTCTTACCTTGAGTAGGTGCTTTTGAGCTGAAGAAAGCCCTGGAGCATTTTCCCAGCATTGTTCCTCAATGTGACAAGAGGCAGCTGGGGGTTGTGGTTTGAGTAGAGGTGAAATATGTTAGGACTGGCTTGTACAAAAACAGGAAACTCCTCCCCAGGGAATGGTTAAATCCAGGTATTTAGAGACAGGAAGAACCTAAGAAATTACCCAGTATAATATTCCTCTGTATTTTTGACTAATG... |
Task1_train_12957 | This variant impacts the gene NTRK2 (neurotrophic receptor tyrosine kinase 2) on Chromosome 9. Is the change likely to result in a pathogenic outcome? | Pathogenic; Obesity, hyperphagia, and developmental delay | AAATCACACAGCAAGTGTAGGACAGGATCCAAATTCATTTCACATATCCCGGAGCTTTGGCCACTGTGCCGCTTCTTACCTTGAGTAGGTGCTTTTGAGCTGAAGAAAGCCCTGGAGCATTTTCCCAGCATTGTTCCTCAATGTGACAAGAGGCAGCTGGGGGTTGTGGTTTGAGTAGAGGTGAAATATGTTAGGACTGGCTTGTACAAAAACAGGAAACTCCTCCCCAGGGAATGGTTAAATCCAGGTATTTAGAGACAGGAAGAACCTAAGAAATTACCCAGTATAATATTCCTCTGTATTTTTGACTAATGAAGAAA... | AAATCACACAGCAAGTGTAGGACAGGATCCAAATTCATTTCACATATCCCGGAGCTTTGGCCACTGTGCCGCTTCTTACCTTGAGTAGGTGCTTTTGAGCTGAAGAAAGCCCTGGAGCATTTTCCCAGCATTGTTCCTCAATGTGACAAGAGGCAGCTGGGGGTTGTGGTTTGAGTAGAGGTGAAATATGTTAGGACTGGCTTGTACAAAAACAGGAAACTCCTCCCCAGGGAATGGTTAAATCCAGGTATTTAGAGACAGGAAGAACCTAAGAAATTACCCAGTATAATATTCCTCTGTATTTTTGACTAATGAAGAAA... |
Task1_train_12958 | The gene AGTPBP1 (ATP/GTP binding carboxypeptidase 1) on Chromosome 9 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Neurodegeneration, childhood-onset, with cerebellar atrophy | AAGACTTGACTAAATAGACACATAGGCAATGGTCACAGATAGCAATGTTACATATTATTATAATAATTCTCTCCAACTTTAAATTCAAGGCAGCTCTAATGCAAACTCCAACAAAGTTTATCCACAAATGGATCCTAAAATTCACAAGTACAGAGAAAAAAAGAGTCAAAGCAATTTTTAAAAGAACAAGAAAGGAAAATTTGCCCTACATGATATCAATATTAATTATAAGCCTACAGTAATGAAAACAATGTTGTATGCAAAGAGATAGAAACAAGAATGGGTATAATAATAGCCTTGCAATACATCCATATATACAA... | AAGACTTGACTAAATAGACACATAGGCAATGGTCACAGATAGCAATGTTACATATTATTATAATAATTCTCTCCAACTTTAAATTCAAGGCAGCTCTAATGCAAACTCCAACAAAGTTTATCCACAAATGGATCCTAAAATTCACAAGTACAGAGAAAAAAAGAGTCAAAGCAATTTTTAAAAGAACAAGAAAGGAAAATTTGCCCTACATGATATCAATATTAATTATAAGCCTACAGTAATGAAAACAATGTTGTATGCAAAGAGATAGAAACAAGAATGGGTATAATAATAGCCTTGCAATACATCCATATATACAA... |
Task1_train_12959 | An alteration has been detected in AGTPBP1 (ATP/GTP binding carboxypeptidase 1) on Chromosome 9. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Neurodegeneration, childhood-onset, with cerebellar atrophy | ATTAATATAACAGGAACATTCTAATCAAAAGCTGGTGAGAACAGAAGGAGCGTATGTATACAGTCCAGTCCAGTCATGCCTGTACTACATTTCCCCTGTGTGTAGTAGAGACTTAACAGCTTCAGAGCTGACTAGAGAACTCAGAAATAAGCTTCTAGTTTGAGAATTTGGAAGATACATATTGTTACCTTAGTATTGTTCAAACAGTGAAGTTAAATATCTAAAAGTTACAACCAAGAGTTATCAATATTCATAACGAAAAAGGAAAAAATAGAAGGCTTATGAGAATTACAAACATTCAACCTTATAAAATTAAGACA... | ATTAATATAACAGGAACATTCTAATCAAAAGCTGGTGAGAACAGAAGGAGCGTATGTATACAGTCCAGTCCAGTCATGCCTGTACTACATTTCCCCTGTGTGTAGTAGAGACTTAACAGCTTCAGAGCTGACTAGAGAACTCAGAAATAAGCTTCTAGTTTGAGAATTTGGAAGATACATATTGTTACCTTAGTATTGTTCAAACAGTGAAGTTAAATATCTAAAAGTTACAACCAAGAGTTATCAATATTCATAACGAAAAAGGAAAAAATAGAAGGCTTATGAGAATTACAAACATTCAACCTTATAAAATTAAGACA... |
Task1_train_12960 | Given this context: Chromosome 9, gene AGTPBP1 (ATP/GTP binding carboxypeptidase 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Neurodegeneration, childhood-onset, with cerebellar atrophy | CTTTCACAAATCACTATTGACTGAGTGGTCACTATTTTCCAGAAACTGTACAGGGCATTGGGGATACAACAATGAATAAATGAACCCTACCCTAGGGAAAATAGAGAGTGCTGTGAGAGCCTGTAATAAGGGGAGGGGAGCCTAGCCAAGTCTGGGCAGTGAGGAAAGGTCTTCTACAGAAAACTACATTTAAATGAAACTCCAAAGGATGAGTCAAGAGAGCAGAGATGAGTACTGCAGGCAGAGGGAAAAATATTAGGAAGACCAGAGGATAGAACAGGGCATTTCAAAGAATTCAGTAAGATTCATTACAGCTACAA... | CTTTCACAAATCACTATTGACTGAGTGGTCACTATTTTCCAGAAACTGTACAGGGCATTGGGGATACAACAATGAATAAATGAACCCTACCCTAGGGAAAATAGAGAGTGCTGTGAGAGCCTGTAATAAGGGGAGGGGAGCCTAGCCAAGTCTGGGCAGTGAGGAAAGGTCTTCTACAGAAAACTACATTTAAATGAAACTCCAAAGGATGAGTCAAGAGAGCAGAGATGAGTACTGCAGGCAGAGGGAAAAATATTAGGAAGACCAGAGGATAGAACAGGGCATTTCAAAGAATTCAGTAAGATTCATTACAGCTACAA... |
Task1_train_12961 | This is a variant in AGTPBP1 (ATP/GTP binding carboxypeptidase 1), located on Chromosome 9. Is this mutation a likely cause of disease or not? | Pathogenic; Neurodegeneration, childhood-onset, with cerebellar atrophy | TATCTGTGCACATACAAAATGAGAAAATCTTAAGTGACTTACTTTCTAATTTGAATTACTTTGCGCAGATTCCCAGACTCAAATTTGGAGTTAAATTTCAAAATATCTCCCTCTTCTGGAATGGTGTAACTAAATAAAAGTTTTAAAGTAAATGTATTAAAATACATTGCATTTAAACAGATGAGCAAAAAGTAAATAAAATTATAATTAAAAATACATCACTACTGCCATATCACCTTCCTCATTATTTTTAAACTAAAGCACAAAACAAGCACAATCAATACATTAAATGTGGATAAGATTTATGGACAAAACTTATA... | TATCTGTGCACATACAAAATGAGAAAATCTTAAGTGACTTACTTTCTAATTTGAATTACTTTGCGCAGATTCCCAGACTCAAATTTGGAGTTAAATTTCAAAATATCTCCCTCTTCTGGAATGGTGTAACTAAATAAAAGTTTTAAAGTAAATGTATTAAAATACATTGCATTTAAACAGATGAGCAAAAAGTAAATAAAATTATAATTAAAAATACATCACTACTGCCATATCACCTTCCTCATTATTTTTAAACTAAAGCACAAAACAAGCACAATCAATACATTAAATGTGGATAAGATTTATGGACAAAACTTATA... |
Task1_train_12962 | A mutation on Chromosome 9 affecting ISCA1, LOC130001967 (iron-sulfur cluster assembly 1| ATAC-STARR-seq lymphoblastoid active region 28514) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Multiple mitochondrial dysfunctions syndrome 5 | AAGACCAGCCTGGTGAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATAAATAAATAAATAAGCTGGGCATGGTGGTGGGCGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGAGAGTTGCTTGAACTCAGTAGGCAGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACCCAGCGAAACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGAAATTCTGAAGGAAGAGGTAACATGTCAAATGGTGATGGAGAAAGACATCAGGGACCAGGCATGGTGGCTCACACCTGTAATCCCT... | AAGACCAGCCTGGTGAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATAAATAAATAAATAAGCTGGGCATGGTGGTGGGCGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGAGAGTTGCTTGAACTCAGTAGGCAGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACCCAGCGAAACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGAAATTCTGAAGGAAGAGGTAACATGTCAAATGGTGATGGAGAAAGACATCAGGGACCAGGCATGGTGGCTCACACCTGTAATCCCT... |
Task1_train_12963 | Here’s a variant in SECISBP2 (SECIS binding protein 2) located on Chromosome 9. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; SECISBP2-related disorder | CATGTTCCAAAATTAAAGGAGGGCAGGTAAAATACATTTGGAGAAATATTGATGATTGTTGAAGCTGGACGATGGACACAGGGGGTTTGTTTACCATTCTTTTTTCTTTGGCGTATGTTTGGAAATTTTCCAGATCAAAAAGTGAGGATAAAACTATATGAGAATTAACTGATTACTTGAAATAACTATTGAGATGGGAAATAGAACAGAAAAGGAGAATAAAATTGAAATGTTCAGTAGTAATCACAATAATTTACTGACTATGTAGAGGAATTACCAACTGCCCATGATGGGATTTTGGAAAACACGTCTGGAAAACT... | CATGTTCCAAAATTAAAGGAGGGCAGGTAAAATACATTTGGAGAAATATTGATGATTGTTGAAGCTGGACGATGGACACAGGGGGTTTGTTTACCATTCTTTTTTCTTTGGCGTATGTTTGGAAATTTTCCAGATCAAAAAGTGAGGATAAAACTATATGAGAATTAACTGATTACTTGAAATAACTATTGAGATGGGAAATAGAACAGAAAAGGAGAATAAAATTGAAATGTTCAGTAGTAATCACAATAATTTACTGACTATGTAGAGGAATTACCAACTGCCCATGATGGGATTTTGGAAAACACGTCTGGAAAACT... |
Task1_train_12964 | Here is a variant affecting SECISBP2 (SECIS binding protein 2) on Chromosome 9. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Thyroid hormone metabolism, abnormal 1 | CATGTTCCAAAATTAAAGGAGGGCAGGTAAAATACATTTGGAGAAATATTGATGATTGTTGAAGCTGGACGATGGACACAGGGGGTTTGTTTACCATTCTTTTTTCTTTGGCGTATGTTTGGAAATTTTCCAGATCAAAAAGTGAGGATAAAACTATATGAGAATTAACTGATTACTTGAAATAACTATTGAGATGGGAAATAGAACAGAAAAGGAGAATAAAATTGAAATGTTCAGTAGTAATCACAATAATTTACTGACTATGTAGAGGAATTACCAACTGCCCATGATGGGATTTTGGAAAACACGTCTGGAAAACT... | CATGTTCCAAAATTAAAGGAGGGCAGGTAAAATACATTTGGAGAAATATTGATGATTGTTGAAGCTGGACGATGGACACAGGGGGTTTGTTTACCATTCTTTTTTCTTTGGCGTATGTTTGGAAATTTTCCAGATCAAAAAGTGAGGATAAAACTATATGAGAATTAACTGATTACTTGAAATAACTATTGAGATGGGAAATAGAACAGAAAAGGAGAATAAAATTGAAATGTTCAGTAGTAATCACAATAATTTACTGACTATGTAGAGGAATTACCAACTGCCCATGATGGGATTTTGGAAAACACGTCTGGAAAACT... |
Task1_train_12965 | A variant affecting Chromosome 9, within the gene SYK (spleen associated tyrosine kinase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Arthritis | TACTAAAAAGAGCAAAAGAAAATCTTCTAATTACCCATAAAGGAACCACCATTAGACTAACAGTGGATTTCTCAGCAGACACCTTACAGGCCAGGAGAGAAGGGGATGACATTTTCAAAGTGCTGAAAGAAAAATACTGCCACCCAAGGAGACCATGTCCAGCAAAACTATTCTTCATAAATAAAAGAAAAATAAAGCCTTTCCCAGGTAAGCAAACACTGAGGGAATTCATCACCACTAGACTGATCCTAGAAGAAATACTCAAAGGAATCTTAAACGTGGAAGTAAAAGGACAATATTTACCATCATAAAAACACACA... | TACTAAAAAGAGCAAAAGAAAATCTTCTAATTACCCATAAAGGAACCACCATTAGACTAACAGTGGATTTCTCAGCAGACACCTTACAGGCCAGGAGAGAAGGGGATGACATTTTCAAAGTGCTGAAAGAAAAATACTGCCACCCAAGGAGACCATGTCCAGCAAAACTATTCTTCATAAATAAAAGAAAAATAAAGCCTTTCCCAGGTAAGCAAACACTGAGGGAATTCATCACCACTAGACTGATCCTAGAAGAAATACTCAAAGGAATCTTAAACGTGGAAGTAAAAGGACAATATTTACCATCATAAAAACACACA... |
Task1_train_12966 | A variant was discovered on Chromosome 9, affecting SYK (spleen associated tyrosine kinase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Decreased circulating antibody concentration | TACTAAAAAGAGCAAAAGAAAATCTTCTAATTACCCATAAAGGAACCACCATTAGACTAACAGTGGATTTCTCAGCAGACACCTTACAGGCCAGGAGAGAAGGGGATGACATTTTCAAAGTGCTGAAAGAAAAATACTGCCACCCAAGGAGACCATGTCCAGCAAAACTATTCTTCATAAATAAAAGAAAAATAAAGCCTTTCCCAGGTAAGCAAACACTGAGGGAATTCATCACCACTAGACTGATCCTAGAAGAAATACTCAAAGGAATCTTAAACGTGGAAGTAAAAGGACAATATTTACCATCATAAAAACACACA... | TACTAAAAAGAGCAAAAGAAAATCTTCTAATTACCCATAAAGGAACCACCATTAGACTAACAGTGGATTTCTCAGCAGACACCTTACAGGCCAGGAGAGAAGGGGATGACATTTTCAAAGTGCTGAAAGAAAAATACTGCCACCCAAGGAGACCATGTCCAGCAAAACTATTCTTCATAAATAAAAGAAAAATAAAGCCTTTCCCAGGTAAGCAAACACTGAGGGAATTCATCACCACTAGACTGATCCTAGAAGAAATACTCAAAGGAATCTTAAACGTGGAAGTAAAAGGACAATATTTACCATCATAAAAACACACA... |
Task1_train_12967 | This variant lies on Chromosome 9 and affects the gene SYK (spleen associated tyrosine kinase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Colitis | TACTAAAAAGAGCAAAAGAAAATCTTCTAATTACCCATAAAGGAACCACCATTAGACTAACAGTGGATTTCTCAGCAGACACCTTACAGGCCAGGAGAGAAGGGGATGACATTTTCAAAGTGCTGAAAGAAAAATACTGCCACCCAAGGAGACCATGTCCAGCAAAACTATTCTTCATAAATAAAAGAAAAATAAAGCCTTTCCCAGGTAAGCAAACACTGAGGGAATTCATCACCACTAGACTGATCCTAGAAGAAATACTCAAAGGAATCTTAAACGTGGAAGTAAAAGGACAATATTTACCATCATAAAAACACACA... | TACTAAAAAGAGCAAAAGAAAATCTTCTAATTACCCATAAAGGAACCACCATTAGACTAACAGTGGATTTCTCAGCAGACACCTTACAGGCCAGGAGAGAAGGGGATGACATTTTCAAAGTGCTGAAAGAAAAATACTGCCACCCAAGGAGACCATGTCCAGCAAAACTATTCTTCATAAATAAAAGAAAAATAAAGCCTTTCCCAGGTAAGCAAACACTGAGGGAATTCATCACCACTAGACTGATCCTAGAAGAAATACTCAAAGGAATCTTAAACGTGGAAGTAAAAGGACAATATTTACCATCATAAAAACACACA... |
Task1_train_12968 | This variant impacts the gene SYK (spleen associated tyrosine kinase) on Chromosome 9. Is the change likely to result in a pathogenic outcome? | Pathogenic; Immunodeficiency | TACTAAAAAGAGCAAAAGAAAATCTTCTAATTACCCATAAAGGAACCACCATTAGACTAACAGTGGATTTCTCAGCAGACACCTTACAGGCCAGGAGAGAAGGGGATGACATTTTCAAAGTGCTGAAAGAAAAATACTGCCACCCAAGGAGACCATGTCCAGCAAAACTATTCTTCATAAATAAAAGAAAAATAAAGCCTTTCCCAGGTAAGCAAACACTGAGGGAATTCATCACCACTAGACTGATCCTAGAAGAAATACTCAAAGGAATCTTAAACGTGGAAGTAAAAGGACAATATTTACCATCATAAAAACACACA... | TACTAAAAAGAGCAAAAGAAAATCTTCTAATTACCCATAAAGGAACCACCATTAGACTAACAGTGGATTTCTCAGCAGACACCTTACAGGCCAGGAGAGAAGGGGATGACATTTTCAAAGTGCTGAAAGAAAAATACTGCCACCCAAGGAGACCATGTCCAGCAAAACTATTCTTCATAAATAAAAGAAAAATAAAGCCTTTCCCAGGTAAGCAAACACTGAGGGAATTCATCACCACTAGACTGATCCTAGAAGAAATACTCAAAGGAATCTTAAACGTGGAAGTAAAAGGACAATATTTACCATCATAAAAACACACA... |
Task1_train_12969 | Here is a variant affecting SYK (spleen associated tyrosine kinase) on Chromosome 9. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Skin rash | TACTAAAAAGAGCAAAAGAAAATCTTCTAATTACCCATAAAGGAACCACCATTAGACTAACAGTGGATTTCTCAGCAGACACCTTACAGGCCAGGAGAGAAGGGGATGACATTTTCAAAGTGCTGAAAGAAAAATACTGCCACCCAAGGAGACCATGTCCAGCAAAACTATTCTTCATAAATAAAAGAAAAATAAAGCCTTTCCCAGGTAAGCAAACACTGAGGGAATTCATCACCACTAGACTGATCCTAGAAGAAATACTCAAAGGAATCTTAAACGTGGAAGTAAAAGGACAATATTTACCATCATAAAAACACACA... | TACTAAAAAGAGCAAAAGAAAATCTTCTAATTACCCATAAAGGAACCACCATTAGACTAACAGTGGATTTCTCAGCAGACACCTTACAGGCCAGGAGAGAAGGGGATGACATTTTCAAAGTGCTGAAAGAAAAATACTGCCACCCAAGGAGACCATGTCCAGCAAAACTATTCTTCATAAATAAAAGAAAAATAAAGCCTTTCCCAGGTAAGCAAACACTGAGGGAATTCATCACCACTAGACTGATCCTAGAAGAAATACTCAAAGGAATCTTAAACGTGGAAGTAAAAGGACAATATTTACCATCATAAAAACACACA... |
Task1_train_12970 | Here is a genetic alteration in AUH (AU RNA binding methylglutaconyl-CoA hydratase) on Chromosome 9. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; 3-methylglutaconic aciduria type 1 | GTTAACTCTGCTTATGCTTTATAAATGGAACAAATAAAACCTGGATGACAGTGCATCTGGTTTCCAGCATAGTTTACTGAATACTAAAGCCCACTGCTGAGACCTACTGCTCAAAAAAAAGAGTTCTTTCAAAATATTACTGTTCAGTGACAATGTCCTGGTTACCCAAGAGCTCTGACAGAGACAGACAAGGAGATGAATGTTGTTTTCATGCCTGATAACATAACAGCCATTCCACAGCCCATGGATCAGTCTACTTTCAAGTCTTATTATTTAAGACACACATTTCAGGCTGGGCGTGGTGGCTCACGCCTGTAATC... | GTTAACTCTGCTTATGCTTTATAAATGGAACAAATAAAACCTGGATGACAGTGCATCTGGTTTCCAGCATAGTTTACTGAATACTAAAGCCCACTGCTGAGACCTACTGCTCAAAAAAAAGAGTTCTTTCAAAATATTACTGTTCAGTGACAATGTCCTGGTTACCCAAGAGCTCTGACAGAGACAGACAAGGAGATGAATGTTGTTTTCATGCCTGATAACATAACAGCCATTCCACAGCCCATGGATCAGTCTACTTTCAAGTCTTATTATTTAAGACACACATTTCAGGCTGGGCGTGGTGGCTCACGCCTGTAATC... |
Task1_train_12971 | Given this context: Chromosome 9, gene AUH (AU RNA binding methylglutaconyl-CoA hydratase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | TAGGACCAAATCAAGGATTTGAGGAATGGGCGTGAACTACTCATACCTCCACCAGGAATAATCGCCAATTTTGTTTCAACCAGGCCCATTTTTGCAGAGGAAGCTAAAACGAAAGAAAGAAAATTAAGTATCATCCATATCATCACATTCAAATATGACAACTTGAAAAAGTTATGAGATATACTAAAATATTGTTTACTAATTAAATTGATATCACAAATTCTTAAAAAAAATCACTTAAAAGGCATTGTTATGGAAATAAGTAAGCACTCTAAATGACATGTATTAGGAGAGTCCCACAACATTTTCTGTTAAAAACT... | TAGGACCAAATCAAGGATTTGAGGAATGGGCGTGAACTACTCATACCTCCACCAGGAATAATCGCCAATTTTGTTTCAACCAGGCCCATTTTTGCAGAGGAAGCTAAAACGAAAGAAAGAAAATTAAGTATCATCCATATCATCACATTCAAATATGACAACTTGAAAAAGTTATGAGATATACTAAAATATTGTTTACTAATTAAATTGATATCACAAATTCTTAAAAAAAATCACTTAAAAGGCATTGTTATGGAAATAAGTAAGCACTCTAAATGACATGTATTAGGAGAGTCCCACAACATTTTCTGTTAAAAACT... |
Task1_train_12972 | Chromosome 9 houses a mutation in gene ROR2 (receptor tyrosine kinase like orphan receptor 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Brachydactyly type B1 | TGCTTGGATGCAAGCTGATTCCTTAAACAACTCCTGAAGAGATAACTGAGGGACAATCTTGTGCCCTGGATCAGTGCTTGCCAATTAGTAGGGTGTCTAATTAATTCTGAGAGTCTGCAGCTAGCATTTTAAAAGATGGTAAGAACAGACTAGAGGATGTCAGAATGCACGGTTCCTACTAAGGGCTCTAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCTCTGGGGCTGGAGTGCAGTGGCGCGATCTGCAACTTCCACCTCTCGGGTTTAAGTGATTCTTCTGCCTCA... | TGCTTGGATGCAAGCTGATTCCTTAAACAACTCCTGAAGAGATAACTGAGGGACAATCTTGTGCCCTGGATCAGTGCTTGCCAATTAGTAGGGTGTCTAATTAATTCTGAGAGTCTGCAGCTAGCATTTTAAAAGATGGTAAGAACAGACTAGAGGATGTCAGAATGCACGGTTCCTACTAAGGGCTCTAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCTCTGGGGCTGGAGTGCAGTGGCGCGATCTGCAACTTCCACCTCTCGGGTTTAAGTGATTCTTCTGCCTCA... |
Task1_train_12973 | This variant affects gene ROR2 (receptor tyrosine kinase like orphan receptor 2) located on Chromosome 9. Evaluate its biological effect and specify any disease association. | Pathogenic; Autosomal recessive Robinow syndrome | TGCTTGGATGCAAGCTGATTCCTTAAACAACTCCTGAAGAGATAACTGAGGGACAATCTTGTGCCCTGGATCAGTGCTTGCCAATTAGTAGGGTGTCTAATTAATTCTGAGAGTCTGCAGCTAGCATTTTAAAAGATGGTAAGAACAGACTAGAGGATGTCAGAATGCACGGTTCCTACTAAGGGCTCTAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCTCTGGGGCTGGAGTGCAGTGGCGCGATCTGCAACTTCCACCTCTCGGGTTTAAGTGATTCTTCTGCCTCA... | TGCTTGGATGCAAGCTGATTCCTTAAACAACTCCTGAAGAGATAACTGAGGGACAATCTTGTGCCCTGGATCAGTGCTTGCCAATTAGTAGGGTGTCTAATTAATTCTGAGAGTCTGCAGCTAGCATTTTAAAAGATGGTAAGAACAGACTAGAGGATGTCAGAATGCACGGTTCCTACTAAGGGCTCTAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCTCTGGGGCTGGAGTGCAGTGGCGCGATCTGCAACTTCCACCTCTCGGGTTTAAGTGATTCTTCTGCCTCA... |
Task1_train_12974 | Here is a mutation in ROR2 (receptor tyrosine kinase like orphan receptor 2) on Chromosome 9. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Autosomal recessive Robinow syndrome | ACTCTTTGGATTTTGTTAACCTAGCCATACAGAACGAAGAGAATTATATCCTATGCCCTCTCCTATAAAGATTATGAGTATTTCACTAGAAAAAGAACAGGGTTCAAAAATTAAAGAAAACGACTCCAATTGCTTTGTTCATATAAGACATTTGTACATTCACTGGAAACTATGAGTGTTTAAATTCCTTCACCCAAAACTCAAGGAACTTTCCTGTTACAACCACCTTGGCTTAAGCAATGGACCCATCATGCTTTCCTCATCACCCATCTAAAAACCCCCACCACAGCACCGCCCCTCAAAGGCTGCGCTCAACCCTC... | ACTCTTTGGATTTTGTTAACCTAGCCATACAGAACGAAGAGAATTATATCCTATGCCCTCTCCTATAAAGATTATGAGTATTTCACTAGAAAAAGAACAGGGTTCAAAAATTAAAGAAAACGACTCCAATTGCTTTGTTCATATAAGACATTTGTACATTCACTGGAAACTATGAGTGTTTAAATTCCTTCACCCAAAACTCAAGGAACTTTCCTGTTACAACCACCTTGGCTTAAGCAATGGACCCATCATGCTTTCCTCATCACCCATCTAAAAACCCCCACCACAGCACCGCCCCTCAAAGGCTGCGCTCAACCCTC... |
Task1_train_12975 | A variant found in Chromosome 9 affects SPTLC1 (serine palmitoyltransferase long chain base subunit 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Hereditary sensory and autonomic neuropathy type 1 | CAGTTAAGTCTCCAGTTTCCATATCCGGAACACAGATAGGACTTTCATGACCAAGAAAGCATGTTTAACCTTAGGAAAGGCAAAAAGAAAGACCTCGGGCAATGTGAAATCACTTTATATAAGACCAGAAATGTGCCTGGAGATATCACCAACCTCCATTTTTTTTTTTTTTTAACTACAGAGGAATCTTAAAGAGTGACTCTTCTAGATGACAAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTCACAATGTGCATATGTACCCTAAAACTTAAAGTATAATAAAAAAAAAAAAAG... | CAGTTAAGTCTCCAGTTTCCATATCCGGAACACAGATAGGACTTTCATGACCAAGAAAGCATGTTTAACCTTAGGAAAGGCAAAAAGAAAGACCTCGGGCAATGTGAAATCACTTTATATAAGACCAGAAATGTGCCTGGAGATATCACCAACCTCCATTTTTTTTTTTTTTTAACTACAGAGGAATCTTAAAGAGTGACTCTTCTAGATGACAAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTCACAATGTGCATATGTACCCTAAAACTTAAAGTATAATAAAAAAAAAAAAAG... |
Task1_train_12976 | Located on Chromosome 9, this mutation impacts SPTLC1 (serine palmitoyltransferase long chain base subunit 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Neuropathy, hereditary sensory and autonomic, type 1A | TCCGGAACACAGATAGGACTTTCATGACCAAGAAAGCATGTTTAACCTTAGGAAAGGCAAAAAGAAAGACCTCGGGCAATGTGAAATCACTTTATATAAGACCAGAAATGTGCCTGGAGATATCACCAACCTCCATTTTTTTTTTTTTTTAACTACAGAGGAATCTTAAAGAGTGACTCTTCTAGATGACAAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTCACAATGTGCATATGTACCCTAAAACTTAAAGTATAATAAAAAAAAAAAAAGTGACTCTTGTGTAGTAAAAAAAA... | TCCGGAACACAGATAGGACTTTCATGACCAAGAAAGCATGTTTAACCTTAGGAAAGGCAAAAAGAAAGACCTCGGGCAATGTGAAATCACTTTATATAAGACCAGAAATGTGCCTGGAGATATCACCAACCTCCATTTTTTTTTTTTTTTAACTACAGAGGAATCTTAAAGAGTGACTCTTCTAGATGACAAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTCACAATGTGCATATGTACCCTAAAACTTAAAGTATAATAAAAAAAAAAAAAGTGACTCTTGTGTAGTAAAAAAAA... |
Task1_train_12977 | The gene SPTLC1 (serine palmitoyltransferase long chain base subunit 1), on Chromosome 9, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hereditary sensory and autonomic neuropathy type 1 | TCCGGAACACAGATAGGACTTTCATGACCAAGAAAGCATGTTTAACCTTAGGAAAGGCAAAAAGAAAGACCTCGGGCAATGTGAAATCACTTTATATAAGACCAGAAATGTGCCTGGAGATATCACCAACCTCCATTTTTTTTTTTTTTTAACTACAGAGGAATCTTAAAGAGTGACTCTTCTAGATGACAAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTCACAATGTGCATATGTACCCTAAAACTTAAAGTATAATAAAAAAAAAAAAAGTGACTCTTGTGTAGTAAAAAAAA... | TCCGGAACACAGATAGGACTTTCATGACCAAGAAAGCATGTTTAACCTTAGGAAAGGCAAAAAGAAAGACCTCGGGCAATGTGAAATCACTTTATATAAGACCAGAAATGTGCCTGGAGATATCACCAACCTCCATTTTTTTTTTTTTTTAACTACAGAGGAATCTTAAAGAGTGACTCTTCTAGATGACAAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTCACAATGTGCATATGTACCCTAAAACTTAAAGTATAATAAAAAAAAAAAAAGTGACTCTTGTGTAGTAAAAAAAA... |
Task1_train_12978 | Gene SPTLC1 (serine palmitoyltransferase long chain base subunit 1) on Chromosome 9 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Hereditary sensory and autonomic neuropathy type 1 | GATTGTTGGCTATGTATTTCCTTCTCTTCCTCCTACTACACAGCTGTCCCTGCCCTGCCAGCTGACTCAGCAACCTCCCCCATCTCCCTACACCTCTGAACCTCTTTCAATGATCCCCACCTTTACCCTCCCAAACAACTTCTTTACTTCCTAGAAAAATACAGCAAAAACTCCCTGATATCTAATACCAACAAGCTGCTGCTCTCCTCCGTACCTACCTACAAAAACAATTCCTTTACCTCAGCAAGCAGTCACAGAAAGCTTTCATCAGATTACAATCAACAACCCCATAAAATGTGCCTTTTCTAGTTTTCTAATAC... | GATTGTTGGCTATGTATTTCCTTCTCTTCCTCCTACTACACAGCTGTCCCTGCCCTGCCAGCTGACTCAGCAACCTCCCCCATCTCCCTACACCTCTGAACCTCTTTCAATGATCCCCACCTTTACCCTCCCAAACAACTTCTTTACTTCCTAGAAAAATACAGCAAAAACTCCCTGATATCTAATACCAACAAGCTGCTGCTCTCCTCCGTACCTACCTACAAAAACAATTCCTTTACCTCAGCAAGCAGTCACAGAAAGCTTTCATCAGATTACAATCAACAACCCCATAAAATGTGCCTTTTCTAGTTTTCTAATAC... |
Task1_train_12979 | A sequence alteration has been identified in SPTLC1 (serine palmitoyltransferase long chain base subunit 1) on Chromosome 9. Is it disease-inducing or harmless? | Pathogenic; Charcot-Marie-Tooth disease | GATTGTTGGCTATGTATTTCCTTCTCTTCCTCCTACTACACAGCTGTCCCTGCCCTGCCAGCTGACTCAGCAACCTCCCCCATCTCCCTACACCTCTGAACCTCTTTCAATGATCCCCACCTTTACCCTCCCAAACAACTTCTTTACTTCCTAGAAAAATACAGCAAAAACTCCCTGATATCTAATACCAACAAGCTGCTGCTCTCCTCCGTACCTACCTACAAAAACAATTCCTTTACCTCAGCAAGCAGTCACAGAAAGCTTTCATCAGATTACAATCAACAACCCCATAAAATGTGCCTTTTCTAGTTTTCTAATAC... | GATTGTTGGCTATGTATTTCCTTCTCTTCCTCCTACTACACAGCTGTCCCTGCCCTGCCAGCTGACTCAGCAACCTCCCCCATCTCCCTACACCTCTGAACCTCTTTCAATGATCCCCACCTTTACCCTCCCAAACAACTTCTTTACTTCCTAGAAAAATACAGCAAAAACTCCCTGATATCTAATACCAACAAGCTGCTGCTCTCCTCCGTACCTACCTACAAAAACAATTCCTTTACCTCAGCAAGCAGTCACAGAAAGCTTTCATCAGATTACAATCAACAACCCCATAAAATGTGCCTTTTCTAGTTTTCTAATAC... |
Task1_train_12980 | Here is a mutation in SPTLC1 (serine palmitoyltransferase long chain base subunit 1) on Chromosome 9. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Inborn genetic diseases | ATTGTTGGCTATGTATTTCCTTCTCTTCCTCCTACTACACAGCTGTCCCTGCCCTGCCAGCTGACTCAGCAACCTCCCCCATCTCCCTACACCTCTGAACCTCTTTCAATGATCCCCACCTTTACCCTCCCAAACAACTTCTTTACTTCCTAGAAAAATACAGCAAAAACTCCCTGATATCTAATACCAACAAGCTGCTGCTCTCCTCCGTACCTACCTACAAAAACAATTCCTTTACCTCAGCAAGCAGTCACAGAAAGCTTTCATCAGATTACAATCAACAACCCCATAAAATGTGCCTTTTCTAGTTTTCTAATACC... | ATTGTTGGCTATGTATTTCCTTCTCTTCCTCCTACTACACAGCTGTCCCTGCCCTGCCAGCTGACTCAGCAACCTCCCCCATCTCCCTACACCTCTGAACCTCTTTCAATGATCCCCACCTTTACCCTCCCAAACAACTTCTTTACTTCCTAGAAAAATACAGCAAAAACTCCCTGATATCTAATACCAACAAGCTGCTGCTCTCCTCCGTACCTACCTACAAAAACAATTCCTTTACCTCAGCAAGCAGTCACAGAAAGCTTTCATCAGATTACAATCAACAACCCCATAAAATGTGCCTTTTCTAGTTTTCTAATACC... |
Task1_train_12981 | The following genetic variant occurs in SPTLC1 (serine palmitoyltransferase long chain base subunit 1) on Chromosome 9. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hereditary sensory and autonomic neuropathy type 1 | ATTGTTGGCTATGTATTTCCTTCTCTTCCTCCTACTACACAGCTGTCCCTGCCCTGCCAGCTGACTCAGCAACCTCCCCCATCTCCCTACACCTCTGAACCTCTTTCAATGATCCCCACCTTTACCCTCCCAAACAACTTCTTTACTTCCTAGAAAAATACAGCAAAAACTCCCTGATATCTAATACCAACAAGCTGCTGCTCTCCTCCGTACCTACCTACAAAAACAATTCCTTTACCTCAGCAAGCAGTCACAGAAAGCTTTCATCAGATTACAATCAACAACCCCATAAAATGTGCCTTTTCTAGTTTTCTAATACC... | ATTGTTGGCTATGTATTTCCTTCTCTTCCTCCTACTACACAGCTGTCCCTGCCCTGCCAGCTGACTCAGCAACCTCCCCCATCTCCCTACACCTCTGAACCTCTTTCAATGATCCCCACCTTTACCCTCCCAAACAACTTCTTTACTTCCTAGAAAAATACAGCAAAAACTCCCTGATATCTAATACCAACAAGCTGCTGCTCTCCTCCGTACCTACCTACAAAAACAATTCCTTTACCTCAGCAAGCAGTCACAGAAAGCTTTCATCAGATTACAATCAACAACCCCATAAAATGTGCCTTTTCTAGTTTTCTAATACC... |
Task1_train_12982 | Here is a variant affecting SPTLC1 (serine palmitoyltransferase long chain base subunit 1) on Chromosome 9. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Amyotrophic lateral sclerosis 27, juvenile | TAATCCTAGGCCTAATTTATGAATGAACCCAAAAAGGATTAGATTGAGTTGAACTGGTAAATAGTTTAAATTAAATGATTTCGACTCATTAGATTATGATAGACCATATTTACCAAATGCCATTTATTTATATTAACATTATATTAGCATATACCATAGCACTGCTGGGAGTACTAATCTATCGATCCCACCTAATACCATCTCTATTATGCCTAGAAGGCATCATACTATCAATATTTATCATAAATACACTCATAATTTTAAACATGCATTTCACTCTAGGATTCATAATACCCATTATCCTCTTAGTATTTGCTGCC... | TAATCCTAGGCCTAATTTATGAATGAACCCAAAAAGGATTAGATTGAGTTGAACTGGTAAATAGTTTAAATTAAATGATTTCGACTCATTAGATTATGATAGACCATATTTACCAAATGCCATTTATTTATATTAACATTATATTAGCATATACCATAGCACTGCTGGGAGTACTAATCTATCGATCCCACCTAATACCATCTCTATTATGCCTAGAAGGCATCATACTATCAATATTTATCATAAATACACTCATAATTTTAAACATGCATTTCACTCTAGGATTCATAATACCCATTATCCTCTTAGTATTTGCTGCC... |
Task1_train_12983 | Chromosome 9 houses a mutation in gene IARS1 (isoleucyl-tRNA synthetase 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | CCACAAGTGCCGAAAGACACAAATACTGACACAGAAAGCCCAATAAATCCCAGGCTATCAGGTGTTACAAATAAAAGGATGGGATGGTAAAAGTCTTGAATTGAGATGTCAAGAATGGGTATAAATAGAAAAAAACAGATCCCACAAAGGGAAGCTGTCTGGGGAAGTGATTGCAGTGGCAGCAATATTAAAGTGAACATGTCTGATGTGTAGCAGGATTACAGAACGAAACTCAGAGGGTAGGGTGAGGATGTCAACAGAGAAGTTGACAGAGCAGCCACAGAAGCTGAAATCTCAGAAGTGAATAGTGCTAAGTGGGA... | CCACAAGTGCCGAAAGACACAAATACTGACACAGAAAGCCCAATAAATCCCAGGCTATCAGGTGTTACAAATAAAAGGATGGGATGGTAAAAGTCTTGAATTGAGATGTCAAGAATGGGTATAAATAGAAAAAAACAGATCCCACAAAGGGAAGCTGTCTGGGGAAGTGATTGCAGTGGCAGCAATATTAAAGTGAACATGTCTGATGTGTAGCAGGATTACAGAACGAAACTCAGAGGGTAGGGTGAGGATGTCAACAGAGAAGTTGACAGAGCAGCCACAGAAGCTGAAATCTCAGAAGTGAATAGTGCTAAGTGGGA... |
Task1_train_12984 | A variant has been detected on Chromosome 9 in IARS1 (isoleucyl-tRNA synthetase 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | CAATATGCAAAATACAAAATGAAACTACACTGCAACTCGCCTCACTGAAAAAATAAACAGCCATCATCAGCCCCTCCTTGTCTTGTCCTACTTGTCTCATAGAATGAGACCGGAGCAAATGATTAAGCAAGTGACTGAGGTATATTTTAAATGATCAACTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTCGCCCAGGATCGAGTGCAGTGATGCAATCTCGGCTCACTGCAACCTCCACCTCCTGTGTTCAAGCGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGTGTACCACCATGCCCAGCTAAT... | CAATATGCAAAATACAAAATGAAACTACACTGCAACTCGCCTCACTGAAAAAATAAACAGCCATCATCAGCCCCTCCTTGTCTTGTCCTACTTGTCTCATAGAATGAGACCGGAGCAAATGATTAAGCAAGTGACTGAGGTATATTTTAAATGATCAACTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTCGCCCAGGATCGAGTGCAGTGATGCAATCTCGGCTCACTGCAACCTCCACCTCCTGTGTTCAAGCGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGTGTACCACCATGCCCAGCTAAT... |
Task1_train_12985 | A variant affecting Chromosome 9, within the gene IARS1 (isoleucyl-tRNA synthetase 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | GCCGTTCCACTTTTATATTATTTAACTAATATCTGAACTGATAAGAACATATATCAAACAATTACTTGCACGTTTTCCTCTCAATGCTAAGTTAAAGTATTTTTTGTGATATATATATATTTACTCAGACAGGTATTAGCTGAAGAACCTCCCCCATTACTCACAATTATGGCAATCCACATTAAGATGAGGTATGTCTTACTTTGAACTGTAGATCCTCATTCTAGAGCCAAGGGCCCTGACATATATTGTACTGCCAGAGACTGTAAGAAAGAATCTAGTATTTCTTAGTCCTTACTTAACATGTATAAGCTAACAAG... | GCCGTTCCACTTTTATATTATTTAACTAATATCTGAACTGATAAGAACATATATCAAACAATTACTTGCACGTTTTCCTCTCAATGCTAAGTTAAAGTATTTTTTGTGATATATATATATTTACTCAGACAGGTATTAGCTGAAGAACCTCCCCCATTACTCACAATTATGGCAATCCACATTAAGATGAGGTATGTCTTACTTTGAACTGTAGATCCTCATTCTAGAGCCAAGGGCCCTGACATATATTGTACTGCCAGAGACTGTAAGAAAGAATCTAGTATTTCTTAGTCCTTACTTAACATGTATAAGCTAACAAG... |
Task1_train_12986 | The gene IARS1 (isoleucyl-tRNA synthetase 1), on Chromosome 9, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | CTTAAGAAACAGTGGAGACAAAGTTCCACCCGTCACTACAACAAAGTTGACCTACCTTGCCAGGACAAGCCCATTCACAATTACGTTCTTGAAAGGCGGTTGTCCAAAGAGGGCCGTGGCCAGCACCAGCAGGGTATAAAACCTGAAAAAAAACCCCAAACAGTTCAATAAAAATAGAAATGAAGTCCAAGCATAAGAAAGAAACTGTATTTATTCATTGAATTTCTATTTTTGATAAGTCACACTTCTTGAGAATCACTTAAAGCAATGATTCTTAATCCTGGTTACTGGAGACCAATCAAATTACTGTCTAAGATTTG... | CTTAAGAAACAGTGGAGACAAAGTTCCACCCGTCACTACAACAAAGTTGACCTACCTTGCCAGGACAAGCCCATTCACAATTACGTTCTTGAAAGGCGGTTGTCCAAAGAGGGCCGTGGCCAGCACCAGCAGGGTATAAAACCTGAAAAAAAACCCCAAACAGTTCAATAAAAATAGAAATGAAGTCCAAGCATAAGAAAGAAACTGTATTTATTCATTGAATTTCTATTTTTGATAAGTCACACTTCTTGAGAATCACTTAAAGCAATGATTCTTAATCCTGGTTACTGGAGACCAATCAAATTACTGTCTAAGATTTG... |
Task1_train_12987 | An alteration has been detected in IARS1 (isoleucyl-tRNA synthetase 1) on Chromosome 9. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | TTCCTCCTGGCACCTGAATCTGGCTCATTAATCTAGAATCTTCCCAAGAAAAAGCTAGAGCTAAATTATAGTCATACAGTGCTTAATGGTGGGAATACATTCTGAGAAATGCATTGTTAGGGTGATTTCCTTAGGCAAACATCACAGACCTAGATGGGATGGCCTAAAACACAGCTAGGCTATATGGTGGAGCCTATTACTTCTAAGCTACAAACCTGTACAGCATGTGGCTGTACTGAATTCTGCAGGCAACTGTAACACAATGGTAAATGCTCTAGTTTTCATATGGTTTGTCCCCAGCAAATCTCAAGTTGAAATTT... | TTCCTCCTGGCACCTGAATCTGGCTCATTAATCTAGAATCTTCCCAAGAAAAAGCTAGAGCTAAATTATAGTCATACAGTGCTTAATGGTGGGAATACATTCTGAGAAATGCATTGTTAGGGTGATTTCCTTAGGCAAACATCACAGACCTAGATGGGATGGCCTAAAACACAGCTAGGCTATATGGTGGAGCCTATTACTTCTAAGCTACAAACCTGTACAGCATGTGGCTGTACTGAATTCTGCAGGCAACTGTAACACAATGGTAAATGCTCTAGTTTTCATATGGTTTGTCCCCAGCAAATCTCAAGTTGAAATTT... |
Task1_train_12988 | The gene IARS1 (isoleucyl-tRNA synthetase 1) on Chromosome 9 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | CCAACAAGAGTAAGTACAAATGGCTTTTGCAGGTATATCTGAAAATAATGTTTACTCTGAAAATGACTATTATTGAAGGCTAGCAAACTCTGGCAGTACAGCCATATTTTTCCAAGGTCATTTCATTCCCTAAATCGAATAAATGGTGGTTTATCATTTCCAATGAGTTTAAAAAGAAAAATACTCCCTTACATACTTTATCACAAGAAGGATGTTACTTCTGTTCTGTAACATTATTTGAATTATTTTGTGCTCCTAAACACACAGAAGAAAAGATAGCTATTACAATACCCAATAAAAGATGGGTTATTAAAATTATA... | CCAACAAGAGTAAGTACAAATGGCTTTTGCAGGTATATCTGAAAATAATGTTTACTCTGAAAATGACTATTATTGAAGGCTAGCAAACTCTGGCAGTACAGCCATATTTTTCCAAGGTCATTTCATTCCCTAAATCGAATAAATGGTGGTTTATCATTTCCAATGAGTTTAAAAAGAAAAATACTCCCTTACATACTTTATCACAAGAAGGATGTTACTTCTGTTCTGTAACATTATTTGAATTATTTTGTGCTCCTAAACACACAGAAGAAAAGATAGCTATTACAATACCCAATAAAAGATGGGTTATTAAAATTATA... |
Task1_train_12989 | This sequence variant lies in BICD2 (BICD cargo adaptor 2) on Chromosome 9. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | GGCTTTTAGGTTGCCCTTCCTTCCTCCTTGTGGGCCACGAGAGGGAAGGGGAAGGGGCTGCAGTGTGACAGGGCCGGGTGGCCAAGTCCTCCTGGCAGCTACTCTACAGCTGAAAACGGGAGAAAAGAGAGCGTTAGAAAGCGGTCATCTGTCGCTTCCTGTTTATCTGACAATTGAAGCTCTCCACGTGCTGGGAGGGCGCGAGCACGTTAGTTGGCAGAAGAGAAGACCTGCATGTGTTAGCAGGGGTCCCAGTGGCTTGGGTGTCTGCAAAGTCCCTTAGGAGTATGGAGAGAAGCTATGTGCCAGGCTTGCAAGGA... | GGCTTTTAGGTTGCCCTTCCTTCCTCCTTGTGGGCCACGAGAGGGAAGGGGAAGGGGCTGCAGTGTGACAGGGCCGGGTGGCCAAGTCCTCCTGGCAGCTACTCTACAGCTGAAAACGGGAGAAAAGAGAGCGTTAGAAAGCGGTCATCTGTCGCTTCCTGTTTATCTGACAATTGAAGCTCTCCACGTGCTGGGAGGGCGCGAGCACGTTAGTTGGCAGAAGAGAAGACCTGCATGTGTTAGCAGGGGTCCCAGTGGCTTGGGTGTCTGCAAAGTCCCTTAGGAGTATGGAGAGAAGCTATGTGCCAGGCTTGCAAGGA... |
Task1_train_12990 | A variant was discovered on Chromosome 9, affecting BICD2 (BICD cargo adaptor 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant | GCTTTTAGGTTGCCCTTCCTTCCTCCTTGTGGGCCACGAGAGGGAAGGGGAAGGGGCTGCAGTGTGACAGGGCCGGGTGGCCAAGTCCTCCTGGCAGCTACTCTACAGCTGAAAACGGGAGAAAAGAGAGCGTTAGAAAGCGGTCATCTGTCGCTTCCTGTTTATCTGACAATTGAAGCTCTCCACGTGCTGGGAGGGCGCGAGCACGTTAGTTGGCAGAAGAGAAGACCTGCATGTGTTAGCAGGGGTCCCAGTGGCTTGGGTGTCTGCAAAGTCCCTTAGGAGTATGGAGAGAAGCTATGTGCCAGGCTTGCAAGGAG... | GCTTTTAGGTTGCCCTTCCTTCCTCCTTGTGGGCCACGAGAGGGAAGGGGAAGGGGCTGCAGTGTGACAGGGCCGGGTGGCCAAGTCCTCCTGGCAGCTACTCTACAGCTGAAAACGGGAGAAAAGAGAGCGTTAGAAAGCGGTCATCTGTCGCTTCCTGTTTATCTGACAATTGAAGCTCTCCACGTGCTGGGAGGGCGCGAGCACGTTAGTTGGCAGAAGAGAAGACCTGCATGTGTTAGCAGGGGTCCCAGTGGCTTGGGTGTCTGCAAAGTCCCTTAGGAGTATGGAGAGAAGCTATGTGCCAGGCTTGCAAGGAG... |
Task1_train_12991 | The variant affects gene BICD2 (BICD cargo adaptor 2), which is on Chromosome 9. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | CGGCACCAGGCTTGAGAGAAGCAGGCCCTATGTGCATGCAGTTCCCACCCTGTCCAGCTCAGATCCTCAGCTTGCTCACCCATAAAAAGGAAACATCTAGGTTATCTGCTGGGCCCATGGTGGGCCTGGCTGTCCCCCATGCAGGGCTGACCCCATGGTGCTATCCCAACATGACCCAGCAGGTGGCGCTACCCATCTTTGGAAAGTGAAAGACAGCGGTACCTGTCAGGGGGCACCTGGGAAGATGCTGAAACCAGGACCTGCCCCACAGAGGCCTGTGAACACTTAGGGAGCCTCGATTCCCAGCCTTGGGGTCTGAG... | CGGCACCAGGCTTGAGAGAAGCAGGCCCTATGTGCATGCAGTTCCCACCCTGTCCAGCTCAGATCCTCAGCTTGCTCACCCATAAAAAGGAAACATCTAGGTTATCTGCTGGGCCCATGGTGGGCCTGGCTGTCCCCCATGCAGGGCTGACCCCATGGTGCTATCCCAACATGACCCAGCAGGTGGCGCTACCCATCTTTGGAAAGTGAAAGACAGCGGTACCTGTCAGGGGGCACCTGGGAAGATGCTGAAACCAGGACCTGCCCCACAGAGGCCTGTGAACACTTAGGGAGCCTCGATTCCCAGCCTTGGGGTCTGAG... |
Task1_train_12992 | This mutation occurs in BICD2 (BICD cargo adaptor 2) on Chromosome 9. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Neuronopathy, distal hereditary motor, autosomal dominant | CGCAGAGGTACAGGGCTATGCACAGAGGTGGGACCCGAACTGTGGACCCCAGCAGTGACCTGCTCCAGCCAGGAGGATAATCTTCCTTCTGAATCTACAAACATAAATACACACTTGTGCCATATGGCCAAGTTCTTGGGGGCAAATACCTCATGAGAGGAAAGGCCAGGACTCCTCTGTCACCTGTTGGCCCCAAGTTAAGTCCCTGTAAATGTTGGATTCAAGGGGTGGGAGCCCAAGCATCCCCTGAAGCTATGCAACTCTGGCCCATCCACTCCAGGATCTGCTCTCCTCAGCCCTTCTGCCCTCAGTCTCCATAT... | CGCAGAGGTACAGGGCTATGCACAGAGGTGGGACCCGAACTGTGGACCCCAGCAGTGACCTGCTCCAGCCAGGAGGATAATCTTCCTTCTGAATCTACAAACATAAATACACACTTGTGCCATATGGCCAAGTTCTTGGGGGCAAATACCTCATGAGAGGAAAGGCCAGGACTCCTCTGTCACCTGTTGGCCCCAAGTTAAGTCCCTGTAAATGTTGGATTCAAGGGGTGGGAGCCCAAGCATCCCCTGAAGCTATGCAACTCTGGCCCATCCACTCCAGGATCTGCTCTCCTCAGCCCTTCTGCCCTCAGTCTCCATAT... |
Task1_train_12993 | This variant affects gene BICD2 (BICD cargo adaptor 2) located on Chromosome 9. Evaluate its biological effect and specify any disease association. | Pathogenic; Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant | CGCCTCCTCCAGCTGCCGCTCTGAGATCTCCTTGAGGCGGATGGCATCCTCCAGCTGGCTGTTGAGGTACTCGGTCTCCTCCTCCAGACGCTTGATCTCATGCTTGAGGCCCTCAAACTCCACCTGGGAAGAGAAGTCAACGCTCTTGCATCAATGCAATGTGGAAGCTCCTTTCAGGCCCCATAAATGAAGAAAACACACCAGCACACCAACTCCGGCCACTATGAAGCAAAAGATGAAGCGCCAGGTGAGGTGCCATCCTGGGAAGGGTGGCAGCCCGTCCAGGCCAAGACTGCTTCCTCTGCTCAGAGATGTGGATG... | CGCCTCCTCCAGCTGCCGCTCTGAGATCTCCTTGAGGCGGATGGCATCCTCCAGCTGGCTGTTGAGGTACTCGGTCTCCTCCTCCAGACGCTTGATCTCATGCTTGAGGCCCTCAAACTCCACCTGGGAAGAGAAGTCAACGCTCTTGCATCAATGCAATGTGGAAGCTCCTTTCAGGCCCCATAAATGAAGAAAACACACCAGCACACCAACTCCGGCCACTATGAAGCAAAAGATGAAGCGCCAGGTGAGGTGCCATCCTGGGAAGGGTGGCAGCCCGTCCAGGCCAAGACTGCTTCCTCTGCTCAGAGATGTGGATG... |
Task1_train_12994 | This alteration in BICD2 (BICD cargo adaptor 2) on Chromosome 9 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | CTTCAGGATCTGAGACTCCCCACCCTGAGTCTAAGCCAAGCTCCTCCCTGGGCCCCTAGGGCCTCAGCGATCTCTGACCCCTCACTCCGCTGCTGACCCCGAGGGCAGCATCCTTCAGTACTGGAATGCTAAGCCAACAGCAGCAGCCCTAATCACTGCATACCCTCAGGGCCTATGCCCTGCTGACCTCCCGTAAGATTATCTGCTGCAGAGGGTGGTGCTCCTGTGTCAGGAACAAGGGTCCATAAGTGCTCCCACAATGTGGGGTGAAAGACCTGTGGGGCATCCTCTACAACGGGCTTCAGAGACTGCCGGTTTAC... | CTTCAGGATCTGAGACTCCCCACCCTGAGTCTAAGCCAAGCTCCTCCCTGGGCCCCTAGGGCCTCAGCGATCTCTGACCCCTCACTCCGCTGCTGACCCCGAGGGCAGCATCCTTCAGTACTGGAATGCTAAGCCAACAGCAGCAGCCCTAATCACTGCATACCCTCAGGGCCTATGCCCTGCTGACCTCCCGTAAGATTATCTGCTGCAGAGGGTGGTGCTCCTGTGTCAGGAACAAGGGTCCATAAGTGCTCCCACAATGTGGGGTGAAAGACCTGTGGGGCATCCTCTACAACGGGCTTCAGAGACTGCCGGTTTAC... |
Task1_train_12995 | This alteration in BICD2 (BICD cargo adaptor 2) on Chromosome 9 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Distal myopathy | CTTCAGGATCTGAGACTCCCCACCCTGAGTCTAAGCCAAGCTCCTCCCTGGGCCCCTAGGGCCTCAGCGATCTCTGACCCCTCACTCCGCTGCTGACCCCGAGGGCAGCATCCTTCAGTACTGGAATGCTAAGCCAACAGCAGCAGCCCTAATCACTGCATACCCTCAGGGCCTATGCCCTGCTGACCTCCCGTAAGATTATCTGCTGCAGAGGGTGGTGCTCCTGTGTCAGGAACAAGGGTCCATAAGTGCTCCCACAATGTGGGGTGAAAGACCTGTGGGGCATCCTCTACAACGGGCTTCAGAGACTGCCGGTTTAC... | CTTCAGGATCTGAGACTCCCCACCCTGAGTCTAAGCCAAGCTCCTCCCTGGGCCCCTAGGGCCTCAGCGATCTCTGACCCCTCACTCCGCTGCTGACCCCGAGGGCAGCATCCTTCAGTACTGGAATGCTAAGCCAACAGCAGCAGCCCTAATCACTGCATACCCTCAGGGCCTATGCCCTGCTGACCTCCCGTAAGATTATCTGCTGCAGAGGGTGGTGCTCCTGTGTCAGGAACAAGGGTCCATAAGTGCTCCCACAATGTGGGGTGAAAGACCTGTGGGGCATCCTCTACAACGGGCTTCAGAGACTGCCGGTTTAC... |
Task1_train_12996 | A variant has been detected on Chromosome 9 in FBP2 (fructose-bisphosphatase 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | ATCTTGGCTCACTACAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGGCAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATTCGCCCGCCTCGGCCTCCCAAATTGCTGGGATTACAGGCATGAGCCACCCTTCCCAGCCCCCTTTTTTTTTTTTTTTTTTTTTGAGACACAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACT... | ATCTTGGCTCACTACAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGGCAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATTCGCCCGCCTCGGCCTCCCAAATTGCTGGGATTACAGGCATGAGCCACCCTTCCCAGCCCCCTTTTTTTTTTTTTTTTTTTTTGAGACACAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACT... |
Task1_train_12997 | A variant was discovered on Chromosome 9, affecting FBP1 (fructose-bisphosphatase 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Fructose-biphosphatase deficiency | TCGCTCTGTCGCCCAGGCTGCAGTGCAGTGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAACTATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCTGATATATATATGGAAAAGGCTCCCAGACCATATTTCTCTCCCTTCATGCT... | TCGCTCTGTCGCCCAGGCTGCAGTGCAGTGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAACTATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCTGATATATATATGGAAAAGGCTCCCAGACCATATTTCTCTCCCTTCATGCT... |
Task1_train_12998 | A change on Chromosome 9 affects gene FBP1 (fructose-bisphosphatase 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Fructose-biphosphatase deficiency | GTGTGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAACTATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCTGATATATATATGGAAAAGGCTCCCAGACCATATTTCTCTCCCTTCATGCTTTGAGAACCAGATGCCAGCTGAGTTACAAG... | GTGTGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAACTATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCTGATATATATATGGAAAAGGCTCCCAGACCATATTTCTCTCCCTTCATGCTTTGAGAACCAGATGCCAGCTGAGTTACAAG... |
Task1_train_12999 | A mutation on Chromosome 9 affecting FBP1 (fructose-bisphosphatase 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Fructose-biphosphatase deficiency | GGAGCACAGCCACCCTGCAGCCTGCTGGGAACACCATGGGCTTGGACTAGTGAGTCGGTGGTGACGGCTCACCTGAAAGCTCTAGGTTTCCCCAGAGATTCTTTCCTCCCCTAAAAGGTATCGTTTTCCAAGTAGTGGATGTTGACTCACTAGTTACCTCTGTTTTACACCTTTTGAAAGCAATCAAAGAAGACTTCTACTGAGGATACACATTTGATTCGCTGCCTTGGAAGTGAGGCTGGGTTGTTTCATTTCACTTTATGAATGGAATTCATTTTGCCCCAGCCAAGCCCTGTATCCACTGGAAGCCCTAAGGACTT... | GGAGCACAGCCACCCTGCAGCCTGCTGGGAACACCATGGGCTTGGACTAGTGAGTCGGTGGTGACGGCTCACCTGAAAGCTCTAGGTTTCCCCAGAGATTCTTTCCTCCCCTAAAAGGTATCGTTTTCCAAGTAGTGGATGTTGACTCACTAGTTACCTCTGTTTTACACCTTTTGAAAGCAATCAAAGAAGACTTCTACTGAGGATACACATTTGATTCGCTGCCTTGGAAGTGAGGCTGGGTTGTTTCATTTCACTTTATGAATGGAATTCATTTTGCCCCAGCCAAGCCCTGTATCCACTGGAAGCCCTAAGGACTT... |
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