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_17100 | A change on Chromosome 12 affects gene AICDA (activation induced cytidine deaminase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Hyper-IgM syndrome type 2 | TATGTTGCCCAGGCTGGCCTTGAACACCTGTGTTCAAGCCATCCTCCCTCCTCAACCTCCCAAGCAGCTAGAACTATGAGCGTGTGCCACGGTTCGCAGCTTTATCATTCTGTTTTGTCACAACTCTCTTATATAGTTAATATACCTTTGGGAGAAGCATCACACACATACAAAATGTAGCAAACCTTGACCTGATTGGCATTTCTGAGATGAAGAGACCCACGAGAGCCAATAGATTTTCCTCTCCCCAACATTCAAGCAACTTCCTTCCAATTGTTTGCTAATTATGATATGTGAAGTTTGTGGGTGTTTCTAAATTA... | TATGTTGCCCAGGCTGGCCTTGAACACCTGTGTTCAAGCCATCCTCCCTCCTCAACCTCCCAAGCAGCTAGAACTATGAGCGTGTGCCACGGTTCGCAGCTTTATCATTCTGTTTTGTCACAACTCTCTTATATAGTTAATATACCTTTGGGAGAAGCATCACACACATACAAAATGTAGCAAACCTTGACCTGATTGGCATTTCTGAGATGAAGAGACCCACGAGAGCCAATAGATTTTCCTCTCCCCAACATTCAAGCAACTTCCTTCCAATTGTTTGCTAATTATGATATGTGAAGTTTGTGGGTGTTTCTAAATTA... |
Task1_train_17101 | The gene AICDA (activation induced cytidine deaminase) is located on Chromosome 12, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Hyper-IgM syndrome type 2 | GTGTGCCACGGTTCGCAGCTTTATCATTCTGTTTTGTCACAACTCTCTTATATAGTTAATATACCTTTGGGAGAAGCATCACACACATACAAAATGTAGCAAACCTTGACCTGATTGGCATTTCTGAGATGAAGAGACCCACGAGAGCCAATAGATTTTCCTCTCCCCAACATTCAAGCAACTTCCTTCCAATTGTTTGCTAATTATGATATGTGAAGTTTGTGGGTGTTTCTAAATTAGGGACTTCCTTAAAAGAGTTTGCGTTTCCAGAAGATTTGCTACTTCAGACATCAACCCATTATTAGGGTGTCTTGTTCACA... | GTGTGCCACGGTTCGCAGCTTTATCATTCTGTTTTGTCACAACTCTCTTATATAGTTAATATACCTTTGGGAGAAGCATCACACACATACAAAATGTAGCAAACCTTGACCTGATTGGCATTTCTGAGATGAAGAGACCCACGAGAGCCAATAGATTTTCCTCTCCCCAACATTCAAGCAACTTCCTTCCAATTGTTTGCTAATTATGATATGTGAAGTTTGTGGGTGTTTCTAAATTAGGGACTTCCTTAAAAGAGTTTGCGTTTCCAGAAGATTTGCTACTTCAGACATCAACCCATTATTAGGGTGTCTTGTTCACA... |
Task1_train_17102 | Located on Chromosome 12, this mutation impacts AICDA (activation induced cytidine deaminase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hyper-IgM syndrome type 2 | GCTTTATCATTCTGTTTTGTCACAACTCTCTTATATAGTTAATATACCTTTGGGAGAAGCATCACACACATACAAAATGTAGCAAACCTTGACCTGATTGGCATTTCTGAGATGAAGAGACCCACGAGAGCCAATAGATTTTCCTCTCCCCAACATTCAAGCAACTTCCTTCCAATTGTTTGCTAATTATGATATGTGAAGTTTGTGGGTGTTTCTAAATTAGGGACTTCCTTAAAAGAGTTTGCGTTTCCAGAAGATTTGCTACTTCAGACATCAACCCATTATTAGGGTGTCTTGTTCACAGTCCTCCTGCCCATTTT... | GCTTTATCATTCTGTTTTGTCACAACTCTCTTATATAGTTAATATACCTTTGGGAGAAGCATCACACACATACAAAATGTAGCAAACCTTGACCTGATTGGCATTTCTGAGATGAAGAGACCCACGAGAGCCAATAGATTTTCCTCTCCCCAACATTCAAGCAACTTCCTTCCAATTGTTTGCTAATTATGATATGTGAAGTTTGTGGGTGTTTCTAAATTAGGGACTTCCTTAAAAGAGTTTGCGTTTCCAGAAGATTTGCTACTTCAGACATCAACCCATTATTAGGGTGTCTTGTTCACAGTCCTCCTGCCCATTTT... |
Task1_train_17103 | A variant has been detected on Chromosome 12 in AICDA (activation induced cytidine deaminase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hyper-IgM syndrome type 2 | GCATCACACACATACAAAATGTAGCAAACCTTGACCTGATTGGCATTTCTGAGATGAAGAGACCCACGAGAGCCAATAGATTTTCCTCTCCCCAACATTCAAGCAACTTCCTTCCAATTGTTTGCTAATTATGATATGTGAAGTTTGTGGGTGTTTCTAAATTAGGGACTTCCTTAAAAGAGTTTGCGTTTCCAGAAGATTTGCTACTTCAGACATCAACCCATTATTAGGGTGTCTTGTTCACAGTCCTCCTGCCCATTTTAAGATCCTTTATTAAAGTAGCTTGAAGGTGACCATGCATGGTCTATACCTCCATCCCC... | GCATCACACACATACAAAATGTAGCAAACCTTGACCTGATTGGCATTTCTGAGATGAAGAGACCCACGAGAGCCAATAGATTTTCCTCTCCCCAACATTCAAGCAACTTCCTTCCAATTGTTTGCTAATTATGATATGTGAAGTTTGTGGGTGTTTCTAAATTAGGGACTTCCTTAAAAGAGTTTGCGTTTCCAGAAGATTTGCTACTTCAGACATCAACCCATTATTAGGGTGTCTTGTTCACAGTCCTCCTGCCCATTTTAAGATCCTTTATTAAAGTAGCTTGAAGGTGACCATGCATGGTCTATACCTCCATCCCC... |
Task1_train_17104 | With a mutation on Chromosome 12 in gene AICDA (activation induced cytidine deaminase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Hyper-IgM syndrome type 2 | ATTCCAGCAGTAAAAATAATCTTCAAAAAAAAAAAAAGGAAAAAAAGGCGGGGATATGGGGGTAGAAGACAGTTCAGGTTCCAAATCGAGGGGAAAGAAGCAACCCTGGCCCCATTTTCTCATTTCCTCGGGGCCTTGTCTCTGAGCCATTCACTCTTTTCTCTGCTTCTAATCTTTAATTTCGGCTCCAGAGGTGAACCAGAATCCCCGCCCACTTCTTCCCCTCGAGCTTCCCCACTAACTCATTCATTCCGCATCGCAATCCCGAATGCGGGCTGCTGCACTGCGCCTGCGCGGAAGGCCCTTTCGCACCTTTGAAG... | ATTCCAGCAGTAAAAATAATCTTCAAAAAAAAAAAAAGGAAAAAAAGGCGGGGATATGGGGGTAGAAGACAGTTCAGGTTCCAAATCGAGGGGAAAGAAGCAACCCTGGCCCCATTTTCTCATTTCCTCGGGGCCTTGTCTCTGAGCCATTCACTCTTTTCTCTGCTTCTAATCTTTAATTTCGGCTCCAGAGGTGAACCAGAATCCCCGCCCACTTCTTCCCCTCGAGCTTCCCCACTAACTCATTCATTCCGCATCGCAATCCCGAATGCGGGCTGCTGCACTGCGCCTGCGCGGAAGGCCCTTTCGCACCTTTGAAG... |
Task1_train_17105 | Consider this mutation in MFAP5 (microfibril associated protein 5) on Chromosome 12. Is this a benign change or a disease-causing variant? | Pathogenic; Aortic aneurysm, familial thoracic 9 | ACTTTTGGGATTTTTGTTATAGAGAATGGTGTGAGCAAAAATTACCTAAAAAGCTGAAAAACCAAAAAATACCTTTTGGGTTTTGCTCAGTTGTGCCACAATTTCACCTAGGATTGACATGACTTCTTTTTTTCTAATTTTTTTTTTTTTTTTTTAGTCAGTTCCACTCTGTTGCCCAGGCTGGAGTGCAATGGCATGATCATGGCTCACTGCAACCGCAGCCTCCTGGGTTCAAGCCATTCTCATGCCTCAGCCTCCTGAGTAGCTAGGACCACAGGCATGCGCCACCATGCCAGGCTAATTTTTTTTTTTTCTAGAGA... | ACTTTTGGGATTTTTGTTATAGAGAATGGTGTGAGCAAAAATTACCTAAAAAGCTGAAAAACCAAAAAATACCTTTTGGGTTTTGCTCAGTTGTGCCACAATTTCACCTAGGATTGACATGACTTCTTTTTTTCTAATTTTTTTTTTTTTTTTTTAGTCAGTTCCACTCTGTTGCCCAGGCTGGAGTGCAATGGCATGATCATGGCTCACTGCAACCGCAGCCTCCTGGGTTCAAGCCATTCTCATGCCTCAGCCTCCTGAGTAGCTAGGACCACAGGCATGCGCCACCATGCCAGGCTAATTTTTTTTTTTTCTAGAGA... |
Task1_train_17106 | A mutation in PRB3 (proline rich protein BstNI subfamily 3), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; PRB3S(CYS) | TAGAGCAGACTTGACATGGCAGGAAATGTCGAATTCCTCACTGGTGTTACTGCAGTAGAGTACATGAGATCCCATCCTCTCTCCCCAATCCCTTCAACCTCCTGTGATTCTTTCCTGATTTTTTCTGTGTTCACTCTTTTGATGCCCTTGCACACAATGTGCTCCAAATTGTTGCTGAGAAGATGAAGAGAAAAGATCATCCTTAGGTTGTTATGACTCATTGCTGTTGAATTTGTTCAGGGATATATTTACACATATGATAATCAGAACCTATTTTATAATAGTGATAAGATGAAACCACCCTCAGTATCCAGTGACAG... | TAGAGCAGACTTGACATGGCAGGAAATGTCGAATTCCTCACTGGTGTTACTGCAGTAGAGTACATGAGATCCCATCCTCTCTCCCCAATCCCTTCAACCTCCTGTGATTCTTTCCTGATTTTTTCTGTGTTCACTCTTTTGATGCCCTTGCACACAATGTGCTCCAAATTGTTGCTGAGAAGATGAAGAGAAAAGATCATCCTTAGGTTGTTATGACTCATTGCTGTTGAATTTGTTCAGGGATATATTTACACATATGATAATCAGAACCTATTTTATAATAGTGATAAGATGAAACCACCCTCAGTATCCAGTGACAG... |
Task1_train_17107 | Chromosome 12 houses a mutation in gene ETV6, LOC126861452 (ETS variant transcription factor 6| CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:12037195-12038394). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Inborn genetic diseases | ATCCTGTGTGTCATTCATAAGCTGTGTCCTCCTGAGTAAATCATCAAACCCTCTCAGCCCCAGCTTCCTGATCTATAAAATAGGAATAGCAACAGCACCTGCCTCATAAGGCGGCGTAAGGGTCAGATGTAACCAGGCTTGTCGAAGCCACAGCACAGTACCTACAAATAGCACCCACTAAATACCGTTGTTATTTTTATTACTTTCTCTTCCCTCCCATTATCACTAATATAATAATCCTGTAAAGTAAGTGCTGTTATTCCCACTTCATAAGTGAGGCAACAGAACCTCAGGAAGATTAAGAAGCGTGTCCAGGGTGG... | ATCCTGTGTGTCATTCATAAGCTGTGTCCTCCTGAGTAAATCATCAAACCCTCTCAGCCCCAGCTTCCTGATCTATAAAATAGGAATAGCAACAGCACCTGCCTCATAAGGCGGCGTAAGGGTCAGATGTAACCAGGCTTGTCGAAGCCACAGCACAGTACCTACAAATAGCACCCACTAAATACCGTTGTTATTTTTATTACTTTCTCTTCCCTCCCATTATCACTAATATAATAATCCTGTAAAGTAAGTGCTGTTATTCCCACTTCATAAGTGAGGCAACAGAACCTCAGGAAGATTAAGAAGCGTGTCCAGGGTGG... |
Task1_train_17108 | A variant has been detected on Chromosome 12 in ETV6, LOC126861452 (ETS variant transcription factor 6| CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:12037195-12038394). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Inborn genetic diseases | CAGCTTCCTGATCTATAAAATAGGAATAGCAACAGCACCTGCCTCATAAGGCGGCGTAAGGGTCAGATGTAACCAGGCTTGTCGAAGCCACAGCACAGTACCTACAAATAGCACCCACTAAATACCGTTGTTATTTTTATTACTTTCTCTTCCCTCCCATTATCACTAATATAATAATCCTGTAAAGTAAGTGCTGTTATTCCCACTTCATAAGTGAGGCAACAGAACCTCAGGAAGATTAAGAAGCGTGTCCAGGGTGGCCCAACTGAATTCCCCTTGTAAATATACCCCCAGAGAAGGGTGTATGTTTCTCTGCAATG... | CAGCTTCCTGATCTATAAAATAGGAATAGCAACAGCACCTGCCTCATAAGGCGGCGTAAGGGTCAGATGTAACCAGGCTTGTCGAAGCCACAGCACAGTACCTACAAATAGCACCCACTAAATACCGTTGTTATTTTTATTACTTTCTCTTCCCTCCCATTATCACTAATATAATAATCCTGTAAAGTAAGTGCTGTTATTCCCACTTCATAAGTGAGGCAACAGAACCTCAGGAAGATTAAGAAGCGTGTCCAGGGTGGCCCAACTGAATTCCCCTTGTAAATATACCCCCAGAGAAGGGTGTATGTTTCTCTGCAATG... |
Task1_train_17109 | A mutation on Chromosome 12 affecting ETV6, LOC126861452 (ETS variant transcription factor 6| CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:12037195-12038394) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; ETV6-related disorder | CAGCTTCCTGATCTATAAAATAGGAATAGCAACAGCACCTGCCTCATAAGGCGGCGTAAGGGTCAGATGTAACCAGGCTTGTCGAAGCCACAGCACAGTACCTACAAATAGCACCCACTAAATACCGTTGTTATTTTTATTACTTTCTCTTCCCTCCCATTATCACTAATATAATAATCCTGTAAAGTAAGTGCTGTTATTCCCACTTCATAAGTGAGGCAACAGAACCTCAGGAAGATTAAGAAGCGTGTCCAGGGTGGCCCAACTGAATTCCCCTTGTAAATATACCCCCAGAGAAGGGTGTATGTTTCTCTGCAATG... | CAGCTTCCTGATCTATAAAATAGGAATAGCAACAGCACCTGCCTCATAAGGCGGCGTAAGGGTCAGATGTAACCAGGCTTGTCGAAGCCACAGCACAGTACCTACAAATAGCACCCACTAAATACCGTTGTTATTTTTATTACTTTCTCTTCCCTCCCATTATCACTAATATAATAATCCTGTAAAGTAAGTGCTGTTATTCCCACTTCATAAGTGAGGCAACAGAACCTCAGGAAGATTAAGAAGCGTGTCCAGGGTGGCCCAACTGAATTCCCCTTGTAAATATACCCCCAGAGAAGGGTGTATGTTTCTCTGCAATG... |
Task1_train_17110 | Consider a variant on Chromosome 12 in gene ETV6, LOC126861452 (ETS variant transcription factor 6| CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:12037195-12038394). Determine its clinical classification and disease relevance. | Pathogenic; Thrombocytopenia 5 | CAGCTTCCTGATCTATAAAATAGGAATAGCAACAGCACCTGCCTCATAAGGCGGCGTAAGGGTCAGATGTAACCAGGCTTGTCGAAGCCACAGCACAGTACCTACAAATAGCACCCACTAAATACCGTTGTTATTTTTATTACTTTCTCTTCCCTCCCATTATCACTAATATAATAATCCTGTAAAGTAAGTGCTGTTATTCCCACTTCATAAGTGAGGCAACAGAACCTCAGGAAGATTAAGAAGCGTGTCCAGGGTGGCCCAACTGAATTCCCCTTGTAAATATACCCCCAGAGAAGGGTGTATGTTTCTCTGCAATG... | CAGCTTCCTGATCTATAAAATAGGAATAGCAACAGCACCTGCCTCATAAGGCGGCGTAAGGGTCAGATGTAACCAGGCTTGTCGAAGCCACAGCACAGTACCTACAAATAGCACCCACTAAATACCGTTGTTATTTTTATTACTTTCTCTTCCCTCCCATTATCACTAATATAATAATCCTGTAAAGTAAGTGCTGTTATTCCCACTTCATAAGTGAGGCAACAGAACCTCAGGAAGATTAAGAAGCGTGTCCAGGGTGGCCCAACTGAATTCCCCTTGTAAATATACCCCCAGAGAAGGGTGTATGTTTCTCTGCAATG... |
Task1_train_17111 | With a mutation on Chromosome 12 in gene ETV6, LOC126861452 (ETS variant transcription factor 6| CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:12037195-12038394), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Neoplasm | CAGCTTCCTGATCTATAAAATAGGAATAGCAACAGCACCTGCCTCATAAGGCGGCGTAAGGGTCAGATGTAACCAGGCTTGTCGAAGCCACAGCACAGTACCTACAAATAGCACCCACTAAATACCGTTGTTATTTTTATTACTTTCTCTTCCCTCCCATTATCACTAATATAATAATCCTGTAAAGTAAGTGCTGTTATTCCCACTTCATAAGTGAGGCAACAGAACCTCAGGAAGATTAAGAAGCGTGTCCAGGGTGGCCCAACTGAATTCCCCTTGTAAATATACCCCCAGAGAAGGGTGTATGTTTCTCTGCAATG... | CAGCTTCCTGATCTATAAAATAGGAATAGCAACAGCACCTGCCTCATAAGGCGGCGTAAGGGTCAGATGTAACCAGGCTTGTCGAAGCCACAGCACAGTACCTACAAATAGCACCCACTAAATACCGTTGTTATTTTTATTACTTTCTCTTCCCTCCCATTATCACTAATATAATAATCCTGTAAAGTAAGTGCTGTTATTCCCACTTCATAAGTGAGGCAACAGAACCTCAGGAAGATTAAGAAGCGTGTCCAGGGTGGCCCAACTGAATTCCCCTTGTAAATATACCCCCAGAGAAGGGTGTATGTTTCTCTGCAATG... |
Task1_train_17112 | A variant affecting Chromosome 12, within the gene ETV6 (ETS variant transcription factor 6), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Thrombocytopenia 5 | ACTCCTTTTTGCTGTGTTTTAGCCTACCCCAGCCTTCTCATCTTTATCCATCCATCTCCCACCAACACCAGGATAACCTTTTCACTCCACTATTTTTTACCACACAGCTCTCTCTGTAACCATCAGGACCCTCTTTCCACCCTTTTTTCCTTCCAGCCTGCATTTAACACACATTCAGAGCCCATTGATTCAGTTAGAACTTGCCTCCCGTCTTTCACATGGGTTCTGCCCAGGTTTAAGTTTGGGTCACGACCGTGGACTTCTGGGTCACTGTATCATCATCTGTGGAGGGAGGCTGTCGCCTGGATCATCTCTGAGGC... | ACTCCTTTTTGCTGTGTTTTAGCCTACCCCAGCCTTCTCATCTTTATCCATCCATCTCCCACCAACACCAGGATAACCTTTTCACTCCACTATTTTTTACCACACAGCTCTCTCTGTAACCATCAGGACCCTCTTTCCACCCTTTTTTCCTTCCAGCCTGCATTTAACACACATTCAGAGCCCATTGATTCAGTTAGAACTTGCCTCCCGTCTTTCACATGGGTTCTGCCCAGGTTTAAGTTTGGGTCACGACCGTGGACTTCTGGGTCACTGTATCATCATCTGTGGAGGGAGGCTGTCGCCTGGATCATCTCTGAGGC... |
Task1_train_17113 | Given this variant in gene ETV6 (ETS variant transcription factor 6) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Inborn genetic diseases | CCCACCAACACCAGGATAACCTTTTCACTCCACTATTTTTTACCACACAGCTCTCTCTGTAACCATCAGGACCCTCTTTCCACCCTTTTTTCCTTCCAGCCTGCATTTAACACACATTCAGAGCCCATTGATTCAGTTAGAACTTGCCTCCCGTCTTTCACATGGGTTCTGCCCAGGTTTAAGTTTGGGTCACGACCGTGGACTTCTGGGTCACTGTATCATCATCTGTGGAGGGAGGCTGTCGCCTGGATCATCTCTGAGGCCTCCGGTGGGTCAAAGGTCACACAACAGGACCTCCCTCCATCTTTCTGGGCCTCCGT... | CCCACCAACACCAGGATAACCTTTTCACTCCACTATTTTTTACCACACAGCTCTCTCTGTAACCATCAGGACCCTCTTTCCACCCTTTTTTCCTTCCAGCCTGCATTTAACACACATTCAGAGCCCATTGATTCAGTTAGAACTTGCCTCCCGTCTTTCACATGGGTTCTGCCCAGGTTTAAGTTTGGGTCACGACCGTGGACTTCTGGGTCACTGTATCATCATCTGTGGAGGGAGGCTGTCGCCTGGATCATCTCTGAGGCCTCCGGTGGGTCAAAGGTCACACAACAGGACCTCCCTCCATCTTTCTGGGCCTCCGT... |
Task1_train_17114 | A mutation in LRP6 (LDL receptor related protein 6), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Tooth agenesis, selective, 7 | CCTTTCTCTGGGTTTACCACAACGGCTCGAGGTCTGTCCTGCTCGCCTTTCAGCACCACTCCAACTGATCTCCCATCTAATCTTGTCACATTAATGACATTGGTAGCCTCACAAGTCCAGTAGATGTAGCGGCTGTAAATATCAATGCTGAGGTCATAGGGTTGTATTTCCAGGTTCTGACTCGGAACTGAGCTCACAACCACAGTAAAGCCCTAGGGAAAAAAAGAAATACAGAGAAAATTAAACTCCAGGGGCAGATAACCCTGAGGCAATCAGTCACAATGCTTACACCTACATGGGCACACAGCTGAGAAGGCTCT... | CCTTTCTCTGGGTTTACCACAACGGCTCGAGGTCTGTCCTGCTCGCCTTTCAGCACCACTCCAACTGATCTCCCATCTAATCTTGTCACATTAATGACATTGGTAGCCTCACAAGTCCAGTAGATGTAGCGGCTGTAAATATCAATGCTGAGGTCATAGGGTTGTATTTCCAGGTTCTGACTCGGAACTGAGCTCACAACCACAGTAAAGCCCTAGGGAAAAAAAGAAATACAGAGAAAATTAAACTCCAGGGGCAGATAACCCTGAGGCAATCAGTCACAATGCTTACACCTACATGGGCACACAGCTGAGAAGGCTCT... |
Task1_train_17115 | The variant affects gene LRP6 (LDL receptor related protein 6), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; LRP6-related disorder | CATATGGCATAAGTCTAAACCCTATCCAGAAAGAAGGTTTGGTTTGGTTTTTGTCAGGGGCAAGAGGATCCAGAAGTGCCAAGAGGCATACTATTTCCTATTAAAATTCACATAACTTGCAAGCACAGAAAAATTTGATGTCAATCTCTAATAAATGCAACTTCAAGTTTTACTGCCAATTCAGGGGAGAAATTTTAAAACTCTAATGCACCAAAAATTTATTCTACTAACAGCAGAATGACTTTACTTTTAAAATTTATCAGTAATCAAGTGGAAAAGCTGTGACCACAATGCTACAGATCTTAATTAGTGGTCAATTT... | CATATGGCATAAGTCTAAACCCTATCCAGAAAGAAGGTTTGGTTTGGTTTTTGTCAGGGGCAAGAGGATCCAGAAGTGCCAAGAGGCATACTATTTCCTATTAAAATTCACATAACTTGCAAGCACAGAAAAATTTGATGTCAATCTCTAATAAATGCAACTTCAAGTTTTACTGCCAATTCAGGGGAGAAATTTTAAAACTCTAATGCACCAAAAATTTATTCTACTAACAGCAGAATGACTTTACTTTTAAAATTTATCAGTAATCAAGTGGAAAAGCTGTGACCACAATGCTACAGATCTTAATTAGTGGTCAATTT... |
Task1_train_17116 | This sequence variant lies in LRP6 (LDL receptor related protein 6) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | TGAAGGAACAAATGAACGAATGAACGAATGAATGAAAAAAATTAAAAACAGGTTTAAGGATGCTGGTACCATACAGGGAAGAAGGAAAGAAGGGGTGACGGAGCCAATGACACCACTGTATGTATGTGTCTGTATGTATATATATATATATGCATAGCTCAAGAAAACATAACAAAGAGGCCAGAAAAGGAATTCTAATTTTAAAATCTACTGCACTCACTGCAAACTAGGAAAATAAATCCTATTTAATCAATGTTATATATTGTTATATAAAGTGTATTAATTTTTATTCTTAAAGATGGTCACTCAGAACCTCCATA... | TGAAGGAACAAATGAACGAATGAACGAATGAATGAAAAAAATTAAAAACAGGTTTAAGGATGCTGGTACCATACAGGGAAGAAGGAAAGAAGGGGTGACGGAGCCAATGACACCACTGTATGTATGTGTCTGTATGTATATATATATATATGCATAGCTCAAGAAAACATAACAAAGAGGCCAGAAAAGGAATTCTAATTTTAAAATCTACTGCACTCACTGCAAACTAGGAAAATAAATCCTATTTAATCAATGTTATATATTGTTATATAAAGTGTATTAATTTTTATTCTTAAAGATGGTCACTCAGAACCTCCATA... |
Task1_train_17117 | Gene LRP6 (LDL receptor related protein 6), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | TGTAGCAAAGTCTAATTCAAAGTTGTTAATTTTAGACTTAACACCAATATCAGGGATATAGGCCACTAATAAAACACTGTGATAAAATATTAATCACTGATTATTTTCACCATAATCTATTTGATTGCCACAAACTTAACTCTACCACTTGGTAAATATTTTTTCCCAAGCTTTGGTTAATTAGTCTTGTTCCCACACAGCCCATAAATCAATTTTAAAATTGTTTGCATGTAACCATCATAATATTTAATATATTCTACCATCTGCCCCAACACCAGTTAACAGCAATAAAAGATATAGATATAGATATAGATATAGAT... | TGTAGCAAAGTCTAATTCAAAGTTGTTAATTTTAGACTTAACACCAATATCAGGGATATAGGCCACTAATAAAACACTGTGATAAAATATTAATCACTGATTATTTTCACCATAATCTATTTGATTGCCACAAACTTAACTCTACCACTTGGTAAATATTTTTTCCCAAGCTTTGGTTAATTAGTCTTGTTCCCACACAGCCCATAAATCAATTTTAAAATTGTTTGCATGTAACCATCATAATATTTAATATATTCTACCATCTGCCCCAACACCAGTTAACAGCAATAAAAGATATAGATATAGATATAGATATAGAT... |
Task1_train_17118 | A variant on Chromosome 12 in gene LRP6 (LDL receptor related protein 6) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Tooth agenesis, selective, 7 | CCACTTGGTAAATATTTTTTCCCAAGCTTTGGTTAATTAGTCTTGTTCCCACACAGCCCATAAATCAATTTTAAAATTGTTTGCATGTAACCATCATAATATTTAATATATTCTACCATCTGCCCCAACACCAGTTAACAGCAATAAAAGATATAGATATAGATATAGATATAGATATAGATATAGATATAGATATAGATATAGATATACACATACATGTGGGCTTTGTTTTCCTAACTTAGGACAGCCAGTTCTTCCAGTATAGATCTTACATAATTTTGGTTTGCAGAAATTGCCCCTAGGAAATTCAGAAAGTGGCT... | CCACTTGGTAAATATTTTTTCCCAAGCTTTGGTTAATTAGTCTTGTTCCCACACAGCCCATAAATCAATTTTAAAATTGTTTGCATGTAACCATCATAATATTTAATATATTCTACCATCTGCCCCAACACCAGTTAACAGCAATAAAAGATATAGATATAGATATAGATATAGATATAGATATAGATATAGATATAGATATAGATATACACATACATGTGGGCTTTGTTTTCCTAACTTAGGACAGCCAGTTCTTCCAGTATAGATCTTACATAATTTTGGTTTGCAGAAATTGCCCCTAGGAAATTCAGAAAGTGGCT... |
Task1_train_17119 | The gene GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Developmental and epileptic encephalopathy, 27 | CTGGCTGACAGTAAAGCACAGGGGAGCTCAGTAGCTTACAACTGTCACTCTTTTCTAGCTCTGACAAATTTTAAGCAGGTTTAGAATTTTGGTCACCAAATAACAGCTGAGCAATTCTCTTCTTGAGCCAAGCATGAACAAAATTCACAGAAAGAGAGAATTAGCAAGCCCTGGGGTCAAAGAAGGATTTTTCTCCTGCTGTGTTCTACACTGTGGGAGGGAAGAATTGGGAAAAACAGCCAGTACTAAATAGGAATAAATAACTCCCTTGTTGAATTCTCTCATTTATTCTCTCTTTAGCTCCTGTTTTCCTTCTTATA... | CTGGCTGACAGTAAAGCACAGGGGAGCTCAGTAGCTTACAACTGTCACTCTTTTCTAGCTCTGACAAATTTTAAGCAGGTTTAGAATTTTGGTCACCAAATAACAGCTGAGCAATTCTCTTCTTGAGCCAAGCATGAACAAAATTCACAGAAAGAGAGAATTAGCAAGCCCTGGGGTCAAAGAAGGATTTTTCTCCTGCTGTGTTCTACACTGTGGGAGGGAAGAATTGGGAAAAACAGCCAGTACTAAATAGGAATAAATAACTCCCTTGTTGAATTCTCTCATTTATTCTCTCTTTAGCTCCTGTTTTCCTTCTTATA... |
Task1_train_17120 | The gene GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Intellectual disability, autosomal dominant 6 | CTGGCTGACAGTAAAGCACAGGGGAGCTCAGTAGCTTACAACTGTCACTCTTTTCTAGCTCTGACAAATTTTAAGCAGGTTTAGAATTTTGGTCACCAAATAACAGCTGAGCAATTCTCTTCTTGAGCCAAGCATGAACAAAATTCACAGAAAGAGAGAATTAGCAAGCCCTGGGGTCAAAGAAGGATTTTTCTCCTGCTGTGTTCTACACTGTGGGAGGGAAGAATTGGGAAAAACAGCCAGTACTAAATAGGAATAAATAACTCCCTTGTTGAATTCTCTCATTTATTCTCTCTTTAGCTCCTGTTTTCCTTCTTATA... | CTGGCTGACAGTAAAGCACAGGGGAGCTCAGTAGCTTACAACTGTCACTCTTTTCTAGCTCTGACAAATTTTAAGCAGGTTTAGAATTTTGGTCACCAAATAACAGCTGAGCAATTCTCTTCTTGAGCCAAGCATGAACAAAATTCACAGAAAGAGAGAATTAGCAAGCCCTGGGGTCAAAGAAGGATTTTTCTCCTGCTGTGTTCTACACTGTGGGAGGGAAGAATTGGGAAAAACAGCCAGTACTAAATAGGAATAAATAACTCCCTTGTTGAATTCTCTCATTTATTCTCTCTTTAGCTCCTGTTTTCCTTCTTATA... |
Task1_train_17121 | A sequence alteration has been identified in GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B) on Chromosome 12. Is it disease-inducing or harmless? | Pathogenic; not provided | AGGGGAGCTCAGTAGCTTACAACTGTCACTCTTTTCTAGCTCTGACAAATTTTAAGCAGGTTTAGAATTTTGGTCACCAAATAACAGCTGAGCAATTCTCTTCTTGAGCCAAGCATGAACAAAATTCACAGAAAGAGAGAATTAGCAAGCCCTGGGGTCAAAGAAGGATTTTTCTCCTGCTGTGTTCTACACTGTGGGAGGGAAGAATTGGGAAAAACAGCCAGTACTAAATAGGAATAAATAACTCCCTTGTTGAATTCTCTCATTTATTCTCTCTTTAGCTCCTGTTTTCCTTCTTATACTTTCTCACTCACTTAATA... | AGGGGAGCTCAGTAGCTTACAACTGTCACTCTTTTCTAGCTCTGACAAATTTTAAGCAGGTTTAGAATTTTGGTCACCAAATAACAGCTGAGCAATTCTCTTCTTGAGCCAAGCATGAACAAAATTCACAGAAAGAGAGAATTAGCAAGCCCTGGGGTCAAAGAAGGATTTTTCTCCTGCTGTGTTCTACACTGTGGGAGGGAAGAATTGGGAAAAACAGCCAGTACTAAATAGGAATAAATAACTCCCTTGTTGAATTCTCTCATTTATTCTCTCTTTAGCTCCTGTTTTCCTTCTTATACTTTCTCACTCACTTAATA... |
Task1_train_17122 | This mutation is located in gene GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | GGAGCTCAGTAGCTTACAACTGTCACTCTTTTCTAGCTCTGACAAATTTTAAGCAGGTTTAGAATTTTGGTCACCAAATAACAGCTGAGCAATTCTCTTCTTGAGCCAAGCATGAACAAAATTCACAGAAAGAGAGAATTAGCAAGCCCTGGGGTCAAAGAAGGATTTTTCTCCTGCTGTGTTCTACACTGTGGGAGGGAAGAATTGGGAAAAACAGCCAGTACTAAATAGGAATAAATAACTCCCTTGTTGAATTCTCTCATTTATTCTCTCTTTAGCTCCTGTTTTCCTTCTTATACTTTCTCACTCACTTAATATTA... | GGAGCTCAGTAGCTTACAACTGTCACTCTTTTCTAGCTCTGACAAATTTTAAGCAGGTTTAGAATTTTGGTCACCAAATAACAGCTGAGCAATTCTCTTCTTGAGCCAAGCATGAACAAAATTCACAGAAAGAGAGAATTAGCAAGCCCTGGGGTCAAAGAAGGATTTTTCTCCTGCTGTGTTCTACACTGTGGGAGGGAAGAATTGGGAAAAACAGCCAGTACTAAATAGGAATAAATAACTCCCTTGTTGAATTCTCTCATTTATTCTCTCTTTAGCTCCTGTTTTCCTTCTTATACTTTCTCACTCACTTAATATTA... |
Task1_train_17123 | An alteration has been detected in GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B) on Chromosome 12. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Intellectual disability, autosomal dominant 6 | TTTTCTAGCTCTGACAAATTTTAAGCAGGTTTAGAATTTTGGTCACCAAATAACAGCTGAGCAATTCTCTTCTTGAGCCAAGCATGAACAAAATTCACAGAAAGAGAGAATTAGCAAGCCCTGGGGTCAAAGAAGGATTTTTCTCCTGCTGTGTTCTACACTGTGGGAGGGAAGAATTGGGAAAAACAGCCAGTACTAAATAGGAATAAATAACTCCCTTGTTGAATTCTCTCATTTATTCTCTCTTTAGCTCCTGTTTTCCTTCTTATACTTTCTCACTCACTTAATATTATCATCAATAATTAACATCTTAACAAATT... | TTTTCTAGCTCTGACAAATTTTAAGCAGGTTTAGAATTTTGGTCACCAAATAACAGCTGAGCAATTCTCTTCTTGAGCCAAGCATGAACAAAATTCACAGAAAGAGAGAATTAGCAAGCCCTGGGGTCAAAGAAGGATTTTTCTCCTGCTGTGTTCTACACTGTGGGAGGGAAGAATTGGGAAAAACAGCCAGTACTAAATAGGAATAAATAACTCCCTTGTTGAATTCTCTCATTTATTCTCTCTTTAGCTCCTGTTTTCCTTCTTATACTTTCTCACTCACTTAATATTATCATCAATAATTAACATCTTAACAAATT... |
Task1_train_17124 | The gene GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B) on Chromosome 12 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Developmental and epileptic encephalopathy, 27 | TTAAGCAGGTTTAGAATTTTGGTCACCAAATAACAGCTGAGCAATTCTCTTCTTGAGCCAAGCATGAACAAAATTCACAGAAAGAGAGAATTAGCAAGCCCTGGGGTCAAAGAAGGATTTTTCTCCTGCTGTGTTCTACACTGTGGGAGGGAAGAATTGGGAAAAACAGCCAGTACTAAATAGGAATAAATAACTCCCTTGTTGAATTCTCTCATTTATTCTCTCTTTAGCTCCTGTTTTCCTTCTTATACTTTCTCACTCACTTAATATTATCATCAATAATTAACATCTTAACAAATTAGTATTGATCGAGAGCTCCC... | TTAAGCAGGTTTAGAATTTTGGTCACCAAATAACAGCTGAGCAATTCTCTTCTTGAGCCAAGCATGAACAAAATTCACAGAAAGAGAGAATTAGCAAGCCCTGGGGTCAAAGAAGGATTTTTCTCCTGCTGTGTTCTACACTGTGGGAGGGAAGAATTGGGAAAAACAGCCAGTACTAAATAGGAATAAATAACTCCCTTGTTGAATTCTCTCATTTATTCTCTCTTTAGCTCCTGTTTTCCTTCTTATACTTTCTCACTCACTTAATATTATCATCAATAATTAACATCTTAACAAATTAGTATTGATCGAGAGCTCCC... |
Task1_train_17125 | Given a variant located on Chromosome 12 and affecting GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Intellectual disability, autosomal dominant 6 | TTAAGCAGGTTTAGAATTTTGGTCACCAAATAACAGCTGAGCAATTCTCTTCTTGAGCCAAGCATGAACAAAATTCACAGAAAGAGAGAATTAGCAAGCCCTGGGGTCAAAGAAGGATTTTTCTCCTGCTGTGTTCTACACTGTGGGAGGGAAGAATTGGGAAAAACAGCCAGTACTAAATAGGAATAAATAACTCCCTTGTTGAATTCTCTCATTTATTCTCTCTTTAGCTCCTGTTTTCCTTCTTATACTTTCTCACTCACTTAATATTATCATCAATAATTAACATCTTAACAAATTAGTATTGATCGAGAGCTCCC... | TTAAGCAGGTTTAGAATTTTGGTCACCAAATAACAGCTGAGCAATTCTCTTCTTGAGCCAAGCATGAACAAAATTCACAGAAAGAGAGAATTAGCAAGCCCTGGGGTCAAAGAAGGATTTTTCTCCTGCTGTGTTCTACACTGTGGGAGGGAAGAATTGGGAAAAACAGCCAGTACTAAATAGGAATAAATAACTCCCTTGTTGAATTCTCTCATTTATTCTCTCTTTAGCTCCTGTTTTCCTTCTTATACTTTCTCACTCACTTAATATTATCATCAATAATTAACATCTTAACAAATTAGTATTGATCGAGAGCTCCC... |
Task1_train_17126 | A mutation found in GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B) on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Intellectual disability, autosomal dominant 6 | GTTTAGAATTTTGGTCACCAAATAACAGCTGAGCAATTCTCTTCTTGAGCCAAGCATGAACAAAATTCACAGAAAGAGAGAATTAGCAAGCCCTGGGGTCAAAGAAGGATTTTTCTCCTGCTGTGTTCTACACTGTGGGAGGGAAGAATTGGGAAAAACAGCCAGTACTAAATAGGAATAAATAACTCCCTTGTTGAATTCTCTCATTTATTCTCTCTTTAGCTCCTGTTTTCCTTCTTATACTTTCTCACTCACTTAATATTATCATCAATAATTAACATCTTAACAAATTAGTATTGATCGAGAGCTCCCTGTGTACA... | GTTTAGAATTTTGGTCACCAAATAACAGCTGAGCAATTCTCTTCTTGAGCCAAGCATGAACAAAATTCACAGAAAGAGAGAATTAGCAAGCCCTGGGGTCAAAGAAGGATTTTTCTCCTGCTGTGTTCTACACTGTGGGAGGGAAGAATTGGGAAAAACAGCCAGTACTAAATAGGAATAAATAACTCCCTTGTTGAATTCTCTCATTTATTCTCTCTTTAGCTCCTGTTTTCCTTCTTATACTTTCTCACTCACTTAATATTATCATCAATAATTAACATCTTAACAAATTAGTATTGATCGAGAGCTCCCTGTGTACA... |
Task1_train_17127 | This alteration occurs within gene GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B) located on Chromosome 12. Is it associated with a disease or is it a benign variant? | Pathogenic; Intellectual disability, autosomal dominant 6 | TTGGTCACCAAATAACAGCTGAGCAATTCTCTTCTTGAGCCAAGCATGAACAAAATTCACAGAAAGAGAGAATTAGCAAGCCCTGGGGTCAAAGAAGGATTTTTCTCCTGCTGTGTTCTACACTGTGGGAGGGAAGAATTGGGAAAAACAGCCAGTACTAAATAGGAATAAATAACTCCCTTGTTGAATTCTCTCATTTATTCTCTCTTTAGCTCCTGTTTTCCTTCTTATACTTTCTCACTCACTTAATATTATCATCAATAATTAACATCTTAACAAATTAGTATTGATCGAGAGCTCCCTGTGTACAGCTCTTTGTA... | TTGGTCACCAAATAACAGCTGAGCAATTCTCTTCTTGAGCCAAGCATGAACAAAATTCACAGAAAGAGAGAATTAGCAAGCCCTGGGGTCAAAGAAGGATTTTTCTCCTGCTGTGTTCTACACTGTGGGAGGGAAGAATTGGGAAAAACAGCCAGTACTAAATAGGAATAAATAACTCCCTTGTTGAATTCTCTCATTTATTCTCTCTTTAGCTCCTGTTTTCCTTCTTATACTTTCTCACTCACTTAATATTATCATCAATAATTAACATCTTAACAAATTAGTATTGATCGAGAGCTCCCTGTGTACAGCTCTTTGTA... |
Task1_train_17128 | Here is a mutation in GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Developmental and epileptic encephalopathy, 27 | TTGGTCACCAAATAACAGCTGAGCAATTCTCTTCTTGAGCCAAGCATGAACAAAATTCACAGAAAGAGAGAATTAGCAAGCCCTGGGGTCAAAGAAGGATTTTTCTCCTGCTGTGTTCTACACTGTGGGAGGGAAGAATTGGGAAAAACAGCCAGTACTAAATAGGAATAAATAACTCCCTTGTTGAATTCTCTCATTTATTCTCTCTTTAGCTCCTGTTTTCCTTCTTATACTTTCTCACTCACTTAATATTATCATCAATAATTAACATCTTAACAAATTAGTATTGATCGAGAGCTCCCTGTGTACAGCTCTTTGTA... | TTGGTCACCAAATAACAGCTGAGCAATTCTCTTCTTGAGCCAAGCATGAACAAAATTCACAGAAAGAGAGAATTAGCAAGCCCTGGGGTCAAAGAAGGATTTTTCTCCTGCTGTGTTCTACACTGTGGGAGGGAAGAATTGGGAAAAACAGCCAGTACTAAATAGGAATAAATAACTCCCTTGTTGAATTCTCTCATTTATTCTCTCTTTAGCTCCTGTTTTCCTTCTTATACTTTCTCACTCACTTAATATTATCATCAATAATTAACATCTTAACAAATTAGTATTGATCGAGAGCTCCCTGTGTACAGCTCTTTGTA... |
Task1_train_17129 | This variant impacts the gene GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B) on Chromosome 12. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | ACAGAAAAAGGTATAGTAGGCAAAAGAAGCTGAATAAAAAAGAGTGATGTAAGAGTGCTGAAGATCTGAGTATCAGATTAAGCATTCTGTACTTTATATTATAGACAGTGGGGAATAACATAATCAAACGAGTGATTCAGAAAATTGCCCTTAAAATTGTGCAAAGCAGATTGGGTAGGGAGAAGACAAGCAGAGAGAGATGGGCAGAGAGATTGATTGATTCCCTAGGGCCCCTCAGATTTACTGATCTCTTGTTGAAGAAAATAAAGAGCAAAGAGGAGTAAGCTTGGATAAAATAAGACCCCCAAATTCAGACTTGC... | ACAGAAAAAGGTATAGTAGGCAAAAGAAGCTGAATAAAAAAGAGTGATGTAAGAGTGCTGAAGATCTGAGTATCAGATTAAGCATTCTGTACTTTATATTATAGACAGTGGGGAATAACATAATCAAACGAGTGATTCAGAAAATTGCCCTTAAAATTGTGCAAAGCAGATTGGGTAGGGAGAAGACAAGCAGAGAGAGATGGGCAGAGAGATTGATTGATTCCCTAGGGCCCCTCAGATTTACTGATCTCTTGTTGAAGAAAATAAAGAGCAAAGAGGAGTAAGCTTGGATAAAATAAGACCCCCAAATTCAGACTTGC... |
Task1_train_17130 | This variant affects gene GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B) located on Chromosome 12. Evaluate its biological effect and specify any disease association. | Pathogenic; Intellectual disability, autosomal dominant 6 | CTTAAAATTGTGCAAAGCAGATTGGGTAGGGAGAAGACAAGCAGAGAGAGATGGGCAGAGAGATTGATTGATTCCCTAGGGCCCCTCAGATTTACTGATCTCTTGTTGAAGAAAATAAAGAGCAAAGAGGAGTAAGCTTGGATAAAATAAGACCCCCAAATTCAGACTTGCCTTCTTTACACATTGTTTAACGGTGCTTTGATCACTTTAACTCATGTCAGATTTCAATGACCTTTTTCCACTTCACCAGATGCTAGGAAGTAGGAGGAAGTAGGAAGAGGTCCCAGACAAAAGGAAAGTAAAAGAAACCATGTGCCCTA... | CTTAAAATTGTGCAAAGCAGATTGGGTAGGGAGAAGACAAGCAGAGAGAGATGGGCAGAGAGATTGATTGATTCCCTAGGGCCCCTCAGATTTACTGATCTCTTGTTGAAGAAAATAAAGAGCAAAGAGGAGTAAGCTTGGATAAAATAAGACCCCCAAATTCAGACTTGCCTTCTTTACACATTGTTTAACGGTGCTTTGATCACTTTAACTCATGTCAGATTTCAATGACCTTTTTCCACTTCACCAGATGCTAGGAAGTAGGAGGAAGTAGGAAGAGGTCCCAGACAAAAGGAAAGTAAAAGAAACCATGTGCCCTA... |
Task1_train_17131 | Gene GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B) on Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Developmental and epileptic encephalopathy, 27 | TGGACTGGCCATCAGTAGAGGACAAATGGGCACTTTCCCTTTCTTGAACTCACCATCTCCAAAGAGCTGCAGGATAGCAAGGTCCACCTGGCGCTTCCACCCAGAATCTTTTTGGATGGCAATGCCATAGCCAGTGGAAGCAAAGACCTTCCCACTGCCAATGGTCACCAGCTTGCAGCCTTCATCTCTGCCTGCCATATAGTTCAGCACTGCTGCATCATAGATGAAGGCATCCAGTTTCCTGTACAGGAAAAAAGCAAACAAATCCAATGGAGGAATTTTAGAACAAAACTACCTGTGGGGCCATTAATATGAAGCAG... | TGGACTGGCCATCAGTAGAGGACAAATGGGCACTTTCCCTTTCTTGAACTCACCATCTCCAAAGAGCTGCAGGATAGCAAGGTCCACCTGGCGCTTCCACCCAGAATCTTTTTGGATGGCAATGCCATAGCCAGTGGAAGCAAAGACCTTCCCACTGCCAATGGTCACCAGCTTGCAGCCTTCATCTCTGCCTGCCATATAGTTCAGCACTGCTGCATCATAGATGAAGGCATCCAGTTTCCTGTACAGGAAAAAAGCAAACAAATCCAATGGAGGAATTTTAGAACAAAACTACCTGTGGGGCCATTAATATGAAGCAG... |
Task1_train_17132 | Gene GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B) on Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Intellectual disability, autosomal dominant 6 | TGGACTGGCCATCAGTAGAGGACAAATGGGCACTTTCCCTTTCTTGAACTCACCATCTCCAAAGAGCTGCAGGATAGCAAGGTCCACCTGGCGCTTCCACCCAGAATCTTTTTGGATGGCAATGCCATAGCCAGTGGAAGCAAAGACCTTCCCACTGCCAATGGTCACCAGCTTGCAGCCTTCATCTCTGCCTGCCATATAGTTCAGCACTGCTGCATCATAGATGAAGGCATCCAGTTTCCTGTACAGGAAAAAAGCAAACAAATCCAATGGAGGAATTTTAGAACAAAACTACCTGTGGGGCCATTAATATGAAGCAG... | TGGACTGGCCATCAGTAGAGGACAAATGGGCACTTTCCCTTTCTTGAACTCACCATCTCCAAAGAGCTGCAGGATAGCAAGGTCCACCTGGCGCTTCCACCCAGAATCTTTTTGGATGGCAATGCCATAGCCAGTGGAAGCAAAGACCTTCCCACTGCCAATGGTCACCAGCTTGCAGCCTTCATCTCTGCCTGCCATATAGTTCAGCACTGCTGCATCATAGATGAAGGCATCCAGTTTCCTGTACAGGAAAAAAGCAAACAAATCCAATGGAGGAATTTTAGAACAAAACTACCTGTGGGGCCATTAATATGAAGCAG... |
Task1_train_17133 | Chromosome 12 houses a mutation in gene GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Intellectual disability, autosomal dominant 6 | TTTCCCTTTCTTGAACTCACCATCTCCAAAGAGCTGCAGGATAGCAAGGTCCACCTGGCGCTTCCACCCAGAATCTTTTTGGATGGCAATGCCATAGCCAGTGGAAGCAAAGACCTTCCCACTGCCAATGGTCACCAGCTTGCAGCCTTCATCTCTGCCTGCCATATAGTTCAGCACTGCTGCATCATAGATGAAGGCATCCAGTTTCCTGTACAGGAAAAAAGCAAACAAATCCAATGGAGGAATTTTAGAACAAAACTACCTGTGGGGCCATTAATATGAAGCAGTAGGGTTCCAGAAAACTATGTGGAGAATTGGTT... | TTTCCCTTTCTTGAACTCACCATCTCCAAAGAGCTGCAGGATAGCAAGGTCCACCTGGCGCTTCCACCCAGAATCTTTTTGGATGGCAATGCCATAGCCAGTGGAAGCAAAGACCTTCCCACTGCCAATGGTCACCAGCTTGCAGCCTTCATCTCTGCCTGCCATATAGTTCAGCACTGCTGCATCATAGATGAAGGCATCCAGTTTCCTGTACAGGAAAAAAGCAAACAAATCCAATGGAGGAATTTTAGAACAAAACTACCTGTGGGGCCATTAATATGAAGCAGTAGGGTTCCAGAAAACTATGTGGAGAATTGGTT... |
Task1_train_17134 | Here is a mutation in GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Intellectual disability, autosomal dominant 6 | AAGGTCCACCTGGCGCTTCCACCCAGAATCTTTTTGGATGGCAATGCCATAGCCAGTGGAAGCAAAGACCTTCCCACTGCCAATGGTCACCAGCTTGCAGCCTTCATCTCTGCCTGCCATATAGTTCAGCACTGCTGCATCATAGATGAAGGCATCCAGTTTCCTGTACAGGAAAAAAGCAAACAAATCCAATGGAGGAATTTTAGAACAAAACTACCTGTGGGGCCATTAATATGAAGCAGTAGGGTTCCAGAAAACTATGTGGAGAATTGGTTCAAAGTAAGGTTTAAGTTGGAACTCTGCCAGAATCTAAAGCCTAA... | AAGGTCCACCTGGCGCTTCCACCCAGAATCTTTTTGGATGGCAATGCCATAGCCAGTGGAAGCAAAGACCTTCCCACTGCCAATGGTCACCAGCTTGCAGCCTTCATCTCTGCCTGCCATATAGTTCAGCACTGCTGCATCATAGATGAAGGCATCCAGTTTCCTGTACAGGAAAAAAGCAAACAAATCCAATGGAGGAATTTTAGAACAAAACTACCTGTGGGGCCATTAATATGAAGCAGTAGGGTTCCAGAAAACTATGTGGAGAATTGGTTCAAAGTAAGGTTTAAGTTGGAACTCTGCCAGAATCTAAAGCCTAA... |
Task1_train_17135 | This mutation occurs in GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B) on Chromosome 12. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | TCCACCTTACCCTAAGCCACAACCAAGTATTGAGCTCTGAGGTTGTTCTTCACCCTATTACTGTCCAGGTTACAGAAACAGTCACCAAAAGGCGATTGTGGTAGCGGCTGCAAATGGGGGGAAAAGGAGGTGTGCAACTCAGATTTTAGTTAGGGTCGTGATGAAAGATGTTGATGAAGGAACAATAAGAGAGGGGTTTAAAAATGGGTTAATACATGGATGATATATAAATAAATGTATCATAAATCATGAGATGAGAGAAGTAAATAAAAGCTTCCAAATAAGAGAGAAAAAAATACAAGAGAGAGAATTTTTTTTTA... | TCCACCTTACCCTAAGCCACAACCAAGTATTGAGCTCTGAGGTTGTTCTTCACCCTATTACTGTCCAGGTTACAGAAACAGTCACCAAAAGGCGATTGTGGTAGCGGCTGCAAATGGGGGGAAAAGGAGGTGTGCAACTCAGATTTTAGTTAGGGTCGTGATGAAAGATGTTGATGAAGGAACAATAAGAGAGGGGTTTAAAAATGGGTTAATACATGGATGATATATAAATAAATGTATCATAAATCATGAGATGAGAGAAGTAAATAAAAGCTTCCAAATAAGAGAGAAAAAAATACAAGAGAGAGAATTTTTTTTTA... |
Task1_train_17136 | This mutation is located in gene GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Intellectual disability, autosomal dominant 6 | CAAGTATTGAGCTCTGAGGTTGTTCTTCACCCTATTACTGTCCAGGTTACAGAAACAGTCACCAAAAGGCGATTGTGGTAGCGGCTGCAAATGGGGGGAAAAGGAGGTGTGCAACTCAGATTTTAGTTAGGGTCGTGATGAAAGATGTTGATGAAGGAACAATAAGAGAGGGGTTTAAAAATGGGTTAATACATGGATGATATATAAATAAATGTATCATAAATCATGAGATGAGAGAAGTAAATAAAAGCTTCCAAATAAGAGAGAAAAAAATACAAGAGAGAGAATTTTTTTTTAAATAAGGAAGAAGAATAAAGCAA... | CAAGTATTGAGCTCTGAGGTTGTTCTTCACCCTATTACTGTCCAGGTTACAGAAACAGTCACCAAAAGGCGATTGTGGTAGCGGCTGCAAATGGGGGGAAAAGGAGGTGTGCAACTCAGATTTTAGTTAGGGTCGTGATGAAAGATGTTGATGAAGGAACAATAAGAGAGGGGTTTAAAAATGGGTTAATACATGGATGATATATAAATAAATGTATCATAAATCATGAGATGAGAGAAGTAAATAAAAGCTTCCAAATAAGAGAGAAAAAAATACAAGAGAGAGAATTTTTTTTTAAATAAGGAAGAAGAATAAAGCAA... |
Task1_train_17137 | Consider a variant on Chromosome 12 in gene GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B). Determine its clinical classification and disease relevance. | Pathogenic; Developmental and epileptic encephalopathy, 27 | GTATTGAGCTCTGAGGTTGTTCTTCACCCTATTACTGTCCAGGTTACAGAAACAGTCACCAAAAGGCGATTGTGGTAGCGGCTGCAAATGGGGGGAAAAGGAGGTGTGCAACTCAGATTTTAGTTAGGGTCGTGATGAAAGATGTTGATGAAGGAACAATAAGAGAGGGGTTTAAAAATGGGTTAATACATGGATGATATATAAATAAATGTATCATAAATCATGAGATGAGAGAAGTAAATAAAAGCTTCCAAATAAGAGAGAAAAAAATACAAGAGAGAGAATTTTTTTTTAAATAAGGAAGAAGAATAAAGCAAAAA... | GTATTGAGCTCTGAGGTTGTTCTTCACCCTATTACTGTCCAGGTTACAGAAACAGTCACCAAAAGGCGATTGTGGTAGCGGCTGCAAATGGGGGGAAAAGGAGGTGTGCAACTCAGATTTTAGTTAGGGTCGTGATGAAAGATGTTGATGAAGGAACAATAAGAGAGGGGTTTAAAAATGGGTTAATACATGGATGATATATAAATAAATGTATCATAAATCATGAGATGAGAGAAGTAAATAAAAGCTTCCAAATAAGAGAGAAAAAAATACAAGAGAGAGAATTTTTTTTTAAATAAGGAAGAAGAATAAAGCAAAAA... |
Task1_train_17138 | A mutation in GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Intellectual disability, autosomal dominant 6 | GTATTGAGCTCTGAGGTTGTTCTTCACCCTATTACTGTCCAGGTTACAGAAACAGTCACCAAAAGGCGATTGTGGTAGCGGCTGCAAATGGGGGGAAAAGGAGGTGTGCAACTCAGATTTTAGTTAGGGTCGTGATGAAAGATGTTGATGAAGGAACAATAAGAGAGGGGTTTAAAAATGGGTTAATACATGGATGATATATAAATAAATGTATCATAAATCATGAGATGAGAGAAGTAAATAAAAGCTTCCAAATAAGAGAGAAAAAAATACAAGAGAGAGAATTTTTTTTTAAATAAGGAAGAAGAATAAAGCAAAAA... | GTATTGAGCTCTGAGGTTGTTCTTCACCCTATTACTGTCCAGGTTACAGAAACAGTCACCAAAAGGCGATTGTGGTAGCGGCTGCAAATGGGGGGAAAAGGAGGTGTGCAACTCAGATTTTAGTTAGGGTCGTGATGAAAGATGTTGATGAAGGAACAATAAGAGAGGGGTTTAAAAATGGGTTAATACATGGATGATATATAAATAAATGTATCATAAATCATGAGATGAGAGAAGTAAATAAAAGCTTCCAAATAAGAGAGAAAAAAATACAAGAGAGAGAATTTTTTTTTAAATAAGGAAGAAGAATAAAGCAAAAA... |
Task1_train_17139 | A change on Chromosome 12 affects gene GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Intellectual disability, autosomal dominant 6 | GGCTGCAAATGGGGGGAAAAGGAGGTGTGCAACTCAGATTTTAGTTAGGGTCGTGATGAAAGATGTTGATGAAGGAACAATAAGAGAGGGGTTTAAAAATGGGTTAATACATGGATGATATATAAATAAATGTATCATAAATCATGAGATGAGAGAAGTAAATAAAAGCTTCCAAATAAGAGAGAAAAAAATACAAGAGAGAGAATTTTTTTTTAAATAAGGAAGAAGAATAAAGCAAAAAGGAAGACAAATCAGAGAAACAGATAACACAAAGGGGTAAACACAGTGGAGTATATATTTTCCATGGGCCATGATGTGCC... | GGCTGCAAATGGGGGGAAAAGGAGGTGTGCAACTCAGATTTTAGTTAGGGTCGTGATGAAAGATGTTGATGAAGGAACAATAAGAGAGGGGTTTAAAAATGGGTTAATACATGGATGATATATAAATAAATGTATCATAAATCATGAGATGAGAGAAGTAAATAAAAGCTTCCAAATAAGAGAGAAAAAAATACAAGAGAGAGAATTTTTTTTTAAATAAGGAAGAAGAATAAAGCAAAAAGGAAGACAAATCAGAGAAACAGATAACACAAAGGGGTAAACACAGTGGAGTATATATTTTCCATGGGCCATGATGTGCC... |
Task1_train_17140 | Mutation context: Chromosome 12, Gene GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | GCTGCAAATGGGGGGAAAAGGAGGTGTGCAACTCAGATTTTAGTTAGGGTCGTGATGAAAGATGTTGATGAAGGAACAATAAGAGAGGGGTTTAAAAATGGGTTAATACATGGATGATATATAAATAAATGTATCATAAATCATGAGATGAGAGAAGTAAATAAAAGCTTCCAAATAAGAGAGAAAAAAATACAAGAGAGAGAATTTTTTTTTAAATAAGGAAGAAGAATAAAGCAAAAAGGAAGACAAATCAGAGAAACAGATAACACAAAGGGGTAAACACAGTGGAGTATATATTTTCCATGGGCCATGATGTGCCC... | GCTGCAAATGGGGGGAAAAGGAGGTGTGCAACTCAGATTTTAGTTAGGGTCGTGATGAAAGATGTTGATGAAGGAACAATAAGAGAGGGGTTTAAAAATGGGTTAATACATGGATGATATATAAATAAATGTATCATAAATCATGAGATGAGAGAAGTAAATAAAAGCTTCCAAATAAGAGAGAAAAAAATACAAGAGAGAGAATTTTTTTTTAAATAAGGAAGAAGAATAAAGCAAAAAGGAAGACAAATCAGAGAAACAGATAACACAAAGGGGTAAACACAGTGGAGTATATATTTTCCATGGGCCATGATGTGCCC... |
Task1_train_17141 | This is a variant in GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B), located on Chromosome 12. Is this mutation a likely cause of disease or not? | Pathogenic; GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder | CAAATGGGGGGAAAAGGAGGTGTGCAACTCAGATTTTAGTTAGGGTCGTGATGAAAGATGTTGATGAAGGAACAATAAGAGAGGGGTTTAAAAATGGGTTAATACATGGATGATATATAAATAAATGTATCATAAATCATGAGATGAGAGAAGTAAATAAAAGCTTCCAAATAAGAGAGAAAAAAATACAAGAGAGAGAATTTTTTTTTAAATAAGGAAGAAGAATAAAGCAAAAAGGAAGACAAATCAGAGAAACAGATAACACAAAGGGGTAAACACAGTGGAGTATATATTTTCCATGGGCCATGATGTGCCCATCT... | CAAATGGGGGGAAAAGGAGGTGTGCAACTCAGATTTTAGTTAGGGTCGTGATGAAAGATGTTGATGAAGGAACAATAAGAGAGGGGTTTAAAAATGGGTTAATACATGGATGATATATAAATAAATGTATCATAAATCATGAGATGAGAGAAGTAAATAAAAGCTTCCAAATAAGAGAGAAAAAAATACAAGAGAGAGAATTTTTTTTTAAATAAGGAAGAAGAATAAAGCAAAAAGGAAGACAAATCAGAGAAACAGATAACACAAAGGGGTAAACACAGTGGAGTATATATTTTCCATGGGCCATGATGTGCCCATCT... |
Task1_train_17142 | This alteration occurs within gene GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B) located on Chromosome 12. Is it associated with a disease or is it a benign variant? | Pathogenic; Developmental and epileptic encephalopathy, 27 | TGCAAAACCTTTCAATGGCAGCTAGAGATGCGAGCGTAAGAGGTACAATTCAAAGGCTCTCTCCAGAGGTGTGGAGAAAACCTCTGCACACTTGACTCTAATTGATTGCAATTCTACCCTGATTTCCCTTTTGTCTAAGATTGGGGAATAACTGAGTAAAAGCACCACCTCTGTGGTCTTTTCCTCCCATTAGGCCCAGGGAAACTTTCTATACACAAAATACATCGTCTGTTTTGGTCTTTACAATTTAGAAACTACTTTTACCACATACTATATATATAATCCTTCTAATGGCCCTTTCATTAGGGATTACCTTATCT... | TGCAAAACCTTTCAATGGCAGCTAGAGATGCGAGCGTAAGAGGTACAATTCAAAGGCTCTCTCCAGAGGTGTGGAGAAAACCTCTGCACACTTGACTCTAATTGATTGCAATTCTACCCTGATTTCCCTTTTGTCTAAGATTGGGGAATAACTGAGTAAAAGCACCACCTCTGTGGTCTTTTCCTCCCATTAGGCCCAGGGAAACTTTCTATACACAAAATACATCGTCTGTTTTGGTCTTTACAATTTAGAAACTACTTTTACCACATACTATATATATAATCCTTCTAATGGCCCTTTCATTAGGGATTACCTTATCT... |
Task1_train_17143 | Gene GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Intellectual disability, autosomal dominant 6 | TGCAAAACCTTTCAATGGCAGCTAGAGATGCGAGCGTAAGAGGTACAATTCAAAGGCTCTCTCCAGAGGTGTGGAGAAAACCTCTGCACACTTGACTCTAATTGATTGCAATTCTACCCTGATTTCCCTTTTGTCTAAGATTGGGGAATAACTGAGTAAAAGCACCACCTCTGTGGTCTTTTCCTCCCATTAGGCCCAGGGAAACTTTCTATACACAAAATACATCGTCTGTTTTGGTCTTTACAATTTAGAAACTACTTTTACCACATACTATATATATAATCCTTCTAATGGCCCTTTCATTAGGGATTACCTTATCT... | TGCAAAACCTTTCAATGGCAGCTAGAGATGCGAGCGTAAGAGGTACAATTCAAAGGCTCTCTCCAGAGGTGTGGAGAAAACCTCTGCACACTTGACTCTAATTGATTGCAATTCTACCCTGATTTCCCTTTTGTCTAAGATTGGGGAATAACTGAGTAAAAGCACCACCTCTGTGGTCTTTTCCTCCCATTAGGCCCAGGGAAACTTTCTATACACAAAATACATCGTCTGTTTTGGTCTTTACAATTTAGAAACTACTTTTACCACATACTATATATATAATCCTTCTAATGGCCCTTTCATTAGGGATTACCTTATCT... |
Task1_train_17144 | Here is a variant affecting GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B) on Chromosome 12. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Intellectual disability, autosomal dominant 6 | AACCTTTCAATGGCAGCTAGAGATGCGAGCGTAAGAGGTACAATTCAAAGGCTCTCTCCAGAGGTGTGGAGAAAACCTCTGCACACTTGACTCTAATTGATTGCAATTCTACCCTGATTTCCCTTTTGTCTAAGATTGGGGAATAACTGAGTAAAAGCACCACCTCTGTGGTCTTTTCCTCCCATTAGGCCCAGGGAAACTTTCTATACACAAAATACATCGTCTGTTTTGGTCTTTACAATTTAGAAACTACTTTTACCACATACTATATATATAATCCTTCTAATGGCCCTTTCATTAGGGATTACCTTATCTATTTT... | AACCTTTCAATGGCAGCTAGAGATGCGAGCGTAAGAGGTACAATTCAAAGGCTCTCTCCAGAGGTGTGGAGAAAACCTCTGCACACTTGACTCTAATTGATTGCAATTCTACCCTGATTTCCCTTTTGTCTAAGATTGGGGAATAACTGAGTAAAAGCACCACCTCTGTGGTCTTTTCCTCCCATTAGGCCCAGGGAAACTTTCTATACACAAAATACATCGTCTGTTTTGGTCTTTACAATTTAGAAACTACTTTTACCACATACTATATATATAATCCTTCTAATGGCCCTTTCATTAGGGATTACCTTATCTATTTT... |
Task1_train_17145 | Here’s a variant in GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Developmental and epileptic encephalopathy, 27 | AACCTTTCAATGGCAGCTAGAGATGCGAGCGTAAGAGGTACAATTCAAAGGCTCTCTCCAGAGGTGTGGAGAAAACCTCTGCACACTTGACTCTAATTGATTGCAATTCTACCCTGATTTCCCTTTTGTCTAAGATTGGGGAATAACTGAGTAAAAGCACCACCTCTGTGGTCTTTTCCTCCCATTAGGCCCAGGGAAACTTTCTATACACAAAATACATCGTCTGTTTTGGTCTTTACAATTTAGAAACTACTTTTACCACATACTATATATATAATCCTTCTAATGGCCCTTTCATTAGGGATTACCTTATCTATTTT... | AACCTTTCAATGGCAGCTAGAGATGCGAGCGTAAGAGGTACAATTCAAAGGCTCTCTCCAGAGGTGTGGAGAAAACCTCTGCACACTTGACTCTAATTGATTGCAATTCTACCCTGATTTCCCTTTTGTCTAAGATTGGGGAATAACTGAGTAAAAGCACCACCTCTGTGGTCTTTTCCTCCCATTAGGCCCAGGGAAACTTTCTATACACAAAATACATCGTCTGTTTTGGTCTTTACAATTTAGAAACTACTTTTACCACATACTATATATATAATCCTTCTAATGGCCCTTTCATTAGGGATTACCTTATCTATTTT... |
Task1_train_17146 | A variant was discovered in gene GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Intellectual disability, autosomal dominant 6 | AACCTTTCAATGGCAGCTAGAGATGCGAGCGTAAGAGGTACAATTCAAAGGCTCTCTCCAGAGGTGTGGAGAAAACCTCTGCACACTTGACTCTAATTGATTGCAATTCTACCCTGATTTCCCTTTTGTCTAAGATTGGGGAATAACTGAGTAAAAGCACCACCTCTGTGGTCTTTTCCTCCCATTAGGCCCAGGGAAACTTTCTATACACAAAATACATCGTCTGTTTTGGTCTTTACAATTTAGAAACTACTTTTACCACATACTATATATATAATCCTTCTAATGGCCCTTTCATTAGGGATTACCTTATCTATTTT... | AACCTTTCAATGGCAGCTAGAGATGCGAGCGTAAGAGGTACAATTCAAAGGCTCTCTCCAGAGGTGTGGAGAAAACCTCTGCACACTTGACTCTAATTGATTGCAATTCTACCCTGATTTCCCTTTTGTCTAAGATTGGGGAATAACTGAGTAAAAGCACCACCTCTGTGGTCTTTTCCTCCCATTAGGCCCAGGGAAACTTTCTATACACAAAATACATCGTCTGTTTTGGTCTTTACAATTTAGAAACTACTTTTACCACATACTATATATATAATCCTTCTAATGGCCCTTTCATTAGGGATTACCTTATCTATTTT... |
Task1_train_17147 | Consider a variant on Chromosome 12 in gene GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B). Determine its clinical classification and disease relevance. | Pathogenic; Developmental and epileptic encephalopathy, 27 | CCTTTCAATGGCAGCTAGAGATGCGAGCGTAAGAGGTACAATTCAAAGGCTCTCTCCAGAGGTGTGGAGAAAACCTCTGCACACTTGACTCTAATTGATTGCAATTCTACCCTGATTTCCCTTTTGTCTAAGATTGGGGAATAACTGAGTAAAAGCACCACCTCTGTGGTCTTTTCCTCCCATTAGGCCCAGGGAAACTTTCTATACACAAAATACATCGTCTGTTTTGGTCTTTACAATTTAGAAACTACTTTTACCACATACTATATATATAATCCTTCTAATGGCCCTTTCATTAGGGATTACCTTATCTATTTTAT... | CCTTTCAATGGCAGCTAGAGATGCGAGCGTAAGAGGTACAATTCAAAGGCTCTCTCCAGAGGTGTGGAGAAAACCTCTGCACACTTGACTCTAATTGATTGCAATTCTACCCTGATTTCCCTTTTGTCTAAGATTGGGGAATAACTGAGTAAAAGCACCACCTCTGTGGTCTTTTCCTCCCATTAGGCCCAGGGAAACTTTCTATACACAAAATACATCGTCTGTTTTGGTCTTTACAATTTAGAAACTACTTTTACCACATACTATATATATAATCCTTCTAATGGCCCTTTCATTAGGGATTACCTTATCTATTTTAT... |
Task1_train_17148 | The gene GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Intellectual disability, autosomal dominant 6 | TAGAGATGCGAGCGTAAGAGGTACAATTCAAAGGCTCTCTCCAGAGGTGTGGAGAAAACCTCTGCACACTTGACTCTAATTGATTGCAATTCTACCCTGATTTCCCTTTTGTCTAAGATTGGGGAATAACTGAGTAAAAGCACCACCTCTGTGGTCTTTTCCTCCCATTAGGCCCAGGGAAACTTTCTATACACAAAATACATCGTCTGTTTTGGTCTTTACAATTTAGAAACTACTTTTACCACATACTATATATATAATCCTTCTAATGGCCCTTTCATTAGGGATTACCTTATCTATTTTATGGAGGAGTAAACTAG... | TAGAGATGCGAGCGTAAGAGGTACAATTCAAAGGCTCTCTCCAGAGGTGTGGAGAAAACCTCTGCACACTTGACTCTAATTGATTGCAATTCTACCCTGATTTCCCTTTTGTCTAAGATTGGGGAATAACTGAGTAAAAGCACCACCTCTGTGGTCTTTTCCTCCCATTAGGCCCAGGGAAACTTTCTATACACAAAATACATCGTCTGTTTTGGTCTTTACAATTTAGAAACTACTTTTACCACATACTATATATATAATCCTTCTAATGGCCCTTTCATTAGGGATTACCTTATCTATTTTATGGAGGAGTAAACTAG... |
Task1_train_17149 | This alteration in GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | AAGGCTCTCTCCAGAGGTGTGGAGAAAACCTCTGCACACTTGACTCTAATTGATTGCAATTCTACCCTGATTTCCCTTTTGTCTAAGATTGGGGAATAACTGAGTAAAAGCACCACCTCTGTGGTCTTTTCCTCCCATTAGGCCCAGGGAAACTTTCTATACACAAAATACATCGTCTGTTTTGGTCTTTACAATTTAGAAACTACTTTTACCACATACTATATATATAATCCTTCTAATGGCCCTTTCATTAGGGATTACCTTATCTATTTTATGGAGGAGTAAACTAGGACTGAGAGGTCAAGGTTCTTTCCAATTCA... | AAGGCTCTCTCCAGAGGTGTGGAGAAAACCTCTGCACACTTGACTCTAATTGATTGCAATTCTACCCTGATTTCCCTTTTGTCTAAGATTGGGGAATAACTGAGTAAAAGCACCACCTCTGTGGTCTTTTCCTCCCATTAGGCCCAGGGAAACTTTCTATACACAAAATACATCGTCTGTTTTGGTCTTTACAATTTAGAAACTACTTTTACCACATACTATATATATAATCCTTCTAATGGCCCTTTCATTAGGGATTACCTTATCTATTTTATGGAGGAGTAAACTAGGACTGAGAGGTCAAGGTTCTTTCCAATTCA... |
Task1_train_17150 | The gene GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B) is located on Chromosome 12, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Intellectual disability, autosomal dominant 6 | GTTAGGGGCTGAACTCTGAAACGGCCTTATTTGTACTAGAACACAGGTTCTGAAGGCTACCATAGCTGGATTTTAATCCTAGAGCTGCCAGTTATCAGCTAAGAGACGGCTGGAAAATGGCTTAATAGGTCTAAGATTCAGTTTCCTAAGCTATAAAATGGGTATAATAACATTTTATGAGTTAATATAACCAAAGGATGTACAATGATGCCTGGCACATTATATAGTAGGTGCTCAATAAATGTTGGCTTCTCTTATCCCTATAACTAACTGCTCCTCCTCTGAATACAGACGTAAACACACCCTGCCTGACATTTCTA... | GTTAGGGGCTGAACTCTGAAACGGCCTTATTTGTACTAGAACACAGGTTCTGAAGGCTACCATAGCTGGATTTTAATCCTAGAGCTGCCAGTTATCAGCTAAGAGACGGCTGGAAAATGGCTTAATAGGTCTAAGATTCAGTTTCCTAAGCTATAAAATGGGTATAATAACATTTTATGAGTTAATATAACCAAAGGATGTACAATGATGCCTGGCACATTATATAGTAGGTGCTCAATAAATGTTGGCTTCTCTTATCCCTATAACTAACTGCTCCTCCTCTGAATACAGACGTAAACACACCCTGCCTGACATTTCTA... |
Task1_train_17151 | A variant on Chromosome 12 in gene GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Intellectual disability, autosomal dominant 6 | TCTCACCCAGTCTTATATCACGTCTGAGATTTTTGACATTTAAGTGATGCTGGAGAGAATGGTATGGGGAGGGGTGCAGTGGGGTGGGAGGAAGAATCAGATCAGCTCTATCTGGCAAAGCCTCAGAAAATTTGCGTGGAAACAAAAAATCTTTTTTGGTAGCTCTGAGCGCAATTCTTGCAGATAATTAAAAATAAATAGATATTTCAATGATATCCAGAATTAGAAATTATTATGGCAAGAAGCAGTCTCAGAGATCAGCCTGGTTGAAATGACTTCTCCTATGGATGAGGAAACCAAGTCCCCAGATACAGCAAATT... | TCTCACCCAGTCTTATATCACGTCTGAGATTTTTGACATTTAAGTGATGCTGGAGAGAATGGTATGGGGAGGGGTGCAGTGGGGTGGGAGGAAGAATCAGATCAGCTCTATCTGGCAAAGCCTCAGAAAATTTGCGTGGAAACAAAAAATCTTTTTTGGTAGCTCTGAGCGCAATTCTTGCAGATAATTAAAAATAAATAGATATTTCAATGATATCCAGAATTAGAAATTATTATGGCAAGAAGCAGTCTCAGAGATCAGCCTGGTTGAAATGACTTCTCCTATGGATGAGGAAACCAAGTCCCCAGATACAGCAAATT... |
Task1_train_17152 | The gene C12orf60, GUCY2C, PLBD1-AS1 (chromosome 12 open reading frame 60| guanylate cyclase 2C| PLBD1 antisense RNA 1), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Meconium ileus | GTCTCAGGTTTTTCTTTATAGCAATGCAAGAATGCCCTCACACAAGAAATATAATCTCACGTGGGAAGAAAGAAGGCCTGGCATCAGTTTTCAGGGCCCTGCGTGATGTGATGGGGATCCCTAGGTTTTTCTCCATAGATTCTCATTCCAGCTCAGAGTAGTAGCCTGCGGGACCTAGTTTTAGATTTGGCTTGTAGTGCCAAGCTTGGGTGTTGGAGTTTGGTTTTGGGTCCCTGTGGAAAAGTTCCAATAAATAGCTAAAGCCTTGTGGGCAAGGTGAAGATTCGGGAGAGTTGAGGGGTCTTGATTTTCTCAAATTT... | GTCTCAGGTTTTTCTTTATAGCAATGCAAGAATGCCCTCACACAAGAAATATAATCTCACGTGGGAAGAAAGAAGGCCTGGCATCAGTTTTCAGGGCCCTGCGTGATGTGATGGGGATCCCTAGGTTTTTCTCCATAGATTCTCATTCCAGCTCAGAGTAGTAGCCTGCGGGACCTAGTTTTAGATTTGGCTTGTAGTGCCAAGCTTGGGTGTTGGAGTTTGGTTTTGGGTCCCTGTGGAAAAGTTCCAATAAATAGCTAAAGCCTTGTGGGCAAGGTGAAGATTCGGGAGAGTTGAGGGGTCTTGATTTTCTCAAATTT... |
Task1_train_17153 | Assess the clinical impact of this variant on gene C12orf60, GUCY2C (chromosome 12 open reading frame 60| guanylate cyclase 2C), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Congenital diarrhea 6 | CTAAAGATTCATCTAGATGACTTCTGAGTTCCTCTCTTACAGGTGTTTTTTCTATAACACCTGTAACTCATCTCAAACCTTGATGTTCAAGGCTGTTGAATTAAACTAAGTTTGGCCTGAGGCTGCCTCTTAGGGGTCCCTACAAAACAAACTGCAACCTAGCTTGGTACATAAACAAACTAAAAGCCTAACTAGGGTATACTTACGTTATAGATAGCTGAGTCTCAGCCAATCGCAGTAGCTGAGCTTCAGCCAGTCACAGGCTGTCAACTGATGGGACTTTGACCAAATCAGGGGAACACAGAGGTTTGACCAATCAA... | CTAAAGATTCATCTAGATGACTTCTGAGTTCCTCTCTTACAGGTGTTTTTTCTATAACACCTGTAACTCATCTCAAACCTTGATGTTCAAGGCTGTTGAATTAAACTAAGTTTGGCCTGAGGCTGCCTCTTAGGGGTCCCTACAAAACAAACTGCAACCTAGCTTGGTACATAAACAAACTAAAAGCCTAACTAGGGTATACTTACGTTATAGATAGCTGAGTCTCAGCCAATCGCAGTAGCTGAGCTTCAGCCAGTCACAGGCTGTCAACTGATGGGACTTTGACCAAATCAGGGGAACACAGAGGTTTGACCAATCAA... |
Task1_train_17154 | A variant affecting Chromosome 12, within the gene C12orf60, GUCY2C (chromosome 12 open reading frame 60| guanylate cyclase 2C), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Congenital diarrhea 6 | TCTCTCTCTCTCTTCCTGCCATGCGAAGAAGGTGCTTGCTTCCCCTTCACTCTTCCACCATGGTTGTACATTTCCTGAGGCCTCCCCAGCCATGCTTCTTGAACACCCTGTGGAACTGTGAGTTATTTAAACCTCCTTTCCTCATAAATTACCTAGTCTCGGGTAGTTCTTTATAATAGGGTGAGAATGGACTATTACACTTGGAAAATAGTGTGTTATCCAGAGAGAGAAACTCATGTTGTAAATAAACGAAGGAAGGGCTGGGAGTTAACATGATGAGCTTTGATAACAGGTTGTTGCTGACATAGATAAAATTAGTA... | TCTCTCTCTCTCTTCCTGCCATGCGAAGAAGGTGCTTGCTTCCCCTTCACTCTTCCACCATGGTTGTACATTTCCTGAGGCCTCCCCAGCCATGCTTCTTGAACACCCTGTGGAACTGTGAGTTATTTAAACCTCCTTTCCTCATAAATTACCTAGTCTCGGGTAGTTCTTTATAATAGGGTGAGAATGGACTATTACACTTGGAAAATAGTGTGTTATCCAGAGAGAGAAACTCATGTTGTAAATAAACGAAGGAAGGGCTGGGAGTTAACATGATGAGCTTTGATAACAGGTTGTTGCTGACATAGATAAAATTAGTA... |
Task1_train_17155 | This mutation occurs in GUCY2C (guanylate cyclase 2C) on Chromosome 12. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not specified | TCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCCGAGGCAGGAGAATTGCTTGAAGACGGGAGGCCGGAGTTGCAGTGAGCCAAGATCCTGCCACTGCACTCTAGTGACAGAGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAATAGAGAATGAGATGTGTGCTTTAGAAGCCAGCTCATTCCTGAGTTGGGGAGTGGTGGAAAGGCACGGAGAATGCGGTAGGCTGAGGCTGGCT... | TCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCCGAGGCAGGAGAATTGCTTGAAGACGGGAGGCCGGAGTTGCAGTGAGCCAAGATCCTGCCACTGCACTCTAGTGACAGAGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAATAGAGAATGAGATGTGTGCTTTAGAAGCCAGCTCATTCCTGAGTTGGGGAGTGGTGGAAAGGCACGGAGAATGCGGTAGGCTGAGGCTGGCT... |
Task1_train_17156 | Consider a variant on Chromosome 12 in gene GUCY2C, GUCY2C-AS1 (guanylate cyclase 2C| GUCY2C antisense RNA 1). Determine its clinical classification and disease relevance. | Pathogenic; not provided | TTTGGGGAAGAAAAGGAGGTTTAATTTGACTTACAGTTCCACATGACTGGGGAGGTCTCATAATCATGGTGGAGGGTGAAAGGCACTTCTTACATGGTGGCAGCAAGAGAGAATGAGAAAGAAGCAAAAGTGGAAACCCCTGATAAACCCGTAAGATCTCGTGATACTTATTCACTATCACGAGACTAGCATGGGAAAGACCAGCCCCCGTGATTCAATTACCTCCCCTGGTCCCTCCCACAACACGTGGGAATTCTGGGAGATACAATTCAAGTTGAGATTTCGGTGGGGACACAGCCAAACTATATCAGTGACCATCC... | TTTGGGGAAGAAAAGGAGGTTTAATTTGACTTACAGTTCCACATGACTGGGGAGGTCTCATAATCATGGTGGAGGGTGAAAGGCACTTCTTACATGGTGGCAGCAAGAGAGAATGAGAAAGAAGCAAAAGTGGAAACCCCTGATAAACCCGTAAGATCTCGTGATACTTATTCACTATCACGAGACTAGCATGGGAAAGACCAGCCCCCGTGATTCAATTACCTCCCCTGGTCCCTCCCACAACACGTGGGAATTCTGGGAGATACAATTCAAGTTGAGATTTCGGTGGGGACACAGCCAAACTATATCAGTGACCATCC... |
Task1_train_17157 | Consider a variant on Chromosome 12 in gene GUCY2C, GUCY2C-AS1 (guanylate cyclase 2C| GUCY2C antisense RNA 1). Determine its clinical classification and disease relevance. | Pathogenic; Abnormal biliary tract morphology | ATAATGAAGTTGCATGCAATTATAGATCTCCCAAAATATACAAAATATGTATGAGTAAGGATGATAGCTCTGCAGTGGAGGATTTGTTGAAATGACTTATAAGGAGGTGGTAGTCATAAAGAAGAAGTTAGCAAAAAACAATTATCTTCATGTCTTCTTACCATTGCTTTTCCTGTTGTGGTCCATTAAGATATCCTGAAACTCCTTATCTTGTCTTAACACCACCTTAAAGCCGAGTTCGTGGGAGAAATAGGAAACGCTAGCCTCCAGAGCATTAAGGTACCTGGAATAGGAAAAAGAGAAACTAAAACAGCTTACTT... | ATAATGAAGTTGCATGCAATTATAGATCTCCCAAAATATACAAAATATGTATGAGTAAGGATGATAGCTCTGCAGTGGAGGATTTGTTGAAATGACTTATAAGGAGGTGGTAGTCATAAAGAAGAAGTTAGCAAAAAACAATTATCTTCATGTCTTCTTACCATTGCTTTTCCTGTTGTGGTCCATTAAGATATCCTGAAACTCCTTATCTTGTCTTAACACCACCTTAAAGCCGAGTTCGTGGGAGAAATAGGAAACGCTAGCCTCCAGAGCATTAAGGTACCTGGAATAGGAAAAAGAGAAACTAAAACAGCTTACTT... |
Task1_train_17158 | The variant affects gene GUCY2C, GUCY2C-AS1 (guanylate cyclase 2C| GUCY2C antisense RNA 1), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Asplenia | ATAATGAAGTTGCATGCAATTATAGATCTCCCAAAATATACAAAATATGTATGAGTAAGGATGATAGCTCTGCAGTGGAGGATTTGTTGAAATGACTTATAAGGAGGTGGTAGTCATAAAGAAGAAGTTAGCAAAAAACAATTATCTTCATGTCTTCTTACCATTGCTTTTCCTGTTGTGGTCCATTAAGATATCCTGAAACTCCTTATCTTGTCTTAACACCACCTTAAAGCCGAGTTCGTGGGAGAAATAGGAAACGCTAGCCTCCAGAGCATTAAGGTACCTGGAATAGGAAAAAGAGAAACTAAAACAGCTTACTT... | ATAATGAAGTTGCATGCAATTATAGATCTCCCAAAATATACAAAATATGTATGAGTAAGGATGATAGCTCTGCAGTGGAGGATTTGTTGAAATGACTTATAAGGAGGTGGTAGTCATAAAGAAGAAGTTAGCAAAAAACAATTATCTTCATGTCTTCTTACCATTGCTTTTCCTGTTGTGGTCCATTAAGATATCCTGAAACTCCTTATCTTGTCTTAACACCACCTTAAAGCCGAGTTCGTGGGAGAAATAGGAAACGCTAGCCTCCAGAGCATTAAGGTACCTGGAATAGGAAAAAGAGAAACTAAAACAGCTTACTT... |
Task1_train_17159 | Chromosome 12 houses a mutation in gene GUCY2C, GUCY2C-AS1 (guanylate cyclase 2C| GUCY2C antisense RNA 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Duodenal atresia | ATAATGAAGTTGCATGCAATTATAGATCTCCCAAAATATACAAAATATGTATGAGTAAGGATGATAGCTCTGCAGTGGAGGATTTGTTGAAATGACTTATAAGGAGGTGGTAGTCATAAAGAAGAAGTTAGCAAAAAACAATTATCTTCATGTCTTCTTACCATTGCTTTTCCTGTTGTGGTCCATTAAGATATCCTGAAACTCCTTATCTTGTCTTAACACCACCTTAAAGCCGAGTTCGTGGGAGAAATAGGAAACGCTAGCCTCCAGAGCATTAAGGTACCTGGAATAGGAAAAAGAGAAACTAAAACAGCTTACTT... | ATAATGAAGTTGCATGCAATTATAGATCTCCCAAAATATACAAAATATGTATGAGTAAGGATGATAGCTCTGCAGTGGAGGATTTGTTGAAATGACTTATAAGGAGGTGGTAGTCATAAAGAAGAAGTTAGCAAAAAACAATTATCTTCATGTCTTCTTACCATTGCTTTTCCTGTTGTGGTCCATTAAGATATCCTGAAACTCCTTATCTTGTCTTAACACCACCTTAAAGCCGAGTTCGTGGGAGAAATAGGAAACGCTAGCCTCCAGAGCATTAAGGTACCTGGAATAGGAAAAAGAGAAACTAAAACAGCTTACTT... |
Task1_train_17160 | The gene GUCY2C, GUCY2C-AS1 (guanylate cyclase 2C| GUCY2C antisense RNA 1) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Reduced number of intrahepatic bile ducts | ATAATGAAGTTGCATGCAATTATAGATCTCCCAAAATATACAAAATATGTATGAGTAAGGATGATAGCTCTGCAGTGGAGGATTTGTTGAAATGACTTATAAGGAGGTGGTAGTCATAAAGAAGAAGTTAGCAAAAAACAATTATCTTCATGTCTTCTTACCATTGCTTTTCCTGTTGTGGTCCATTAAGATATCCTGAAACTCCTTATCTTGTCTTAACACCACCTTAAAGCCGAGTTCGTGGGAGAAATAGGAAACGCTAGCCTCCAGAGCATTAAGGTACCTGGAATAGGAAAAAGAGAAACTAAAACAGCTTACTT... | ATAATGAAGTTGCATGCAATTATAGATCTCCCAAAATATACAAAATATGTATGAGTAAGGATGATAGCTCTGCAGTGGAGGATTTGTTGAAATGACTTATAAGGAGGTGGTAGTCATAAAGAAGAAGTTAGCAAAAAACAATTATCTTCATGTCTTCTTACCATTGCTTTTCCTGTTGTGGTCCATTAAGATATCCTGAAACTCCTTATCTTGTCTTAACACCACCTTAAAGCCGAGTTCGTGGGAGAAATAGGAAACGCTAGCCTCCAGAGCATTAAGGTACCTGGAATAGGAAAAAGAGAAACTAAAACAGCTTACTT... |
Task1_train_17161 | Gene PIK3C2G, PLCZ1 (phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma| phospholipase C zeta 1) on Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; PLCZ1-related disorder | ATGACTTTTATATCCTCTAACCACTGAAATTTTATCCTGACTCTACTTTGTATTTCTCATTTCCCTCTCGTATACTTCTTCTCAAATCTGCAGAAAAAAACCTAACACTCAACTCTGTTAAAGTTATAGCCCTACTTAAAAGTCTGAATTTTATCCATTTTCTAGAAAAAAGAAAGTTCCTGACACCTTAGCATGGCTTTTGAGATTTTCCATGACCCTCCCTAAATAATTTTCTCATTTTATCTCTCACTAATCTTTCTTAAGCACCCTATATTCCACCCATCTTGAGTTTCTTGGCTTTTCTCTAGCATGTTTAAATT... | ATGACTTTTATATCCTCTAACCACTGAAATTTTATCCTGACTCTACTTTGTATTTCTCATTTCCCTCTCGTATACTTCTTCTCAAATCTGCAGAAAAAAACCTAACACTCAACTCTGTTAAAGTTATAGCCCTACTTAAAAGTCTGAATTTTATCCATTTTCTAGAAAAAAGAAAGTTCCTGACACCTTAGCATGGCTTTTGAGATTTTCCATGACCCTCCCTAAATAATTTTCTCATTTTATCTCTCACTAATCTTTCTTAAGCACCCTATATTCCACCCATCTTGAGTTTCTTGGCTTTTCTCTAGCATGTTTAAATT... |
Task1_train_17162 | A genetic alteration is present in PIK3C2G, PLCZ1 (phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma| phospholipase C zeta 1) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Spermatogenic failure 17 | ATTGATTATTTACTATAACTTTTGGTGCAAGAAAAATGCTCTATGCCCCTTCAAAGAAATGGTAATGTTATACTTTGACTCTACTCAGAACTATCTAATTCCTTTCCAAAATTTTTGCAAGTATTTAATATGATGAGAGTAATACAATTATAATTAATTTATGCTGTGCCTACAGGTCCTGTCCTCATGAACAACATGAGGACCTGTCCTCATGAACAACATGAAGGAACAGAGACCAGTAAAGCATGTCATTCAAACTCTCTTAACCACACCTTACAGCAAGAAATACATTTTACAATCCAACTCACATGCACGATGCA... | ATTGATTATTTACTATAACTTTTGGTGCAAGAAAAATGCTCTATGCCCCTTCAAAGAAATGGTAATGTTATACTTTGACTCTACTCAGAACTATCTAATTCCTTTCCAAAATTTTTGCAAGTATTTAATATGATGAGAGTAATACAATTATAATTAATTTATGCTGTGCCTACAGGTCCTGTCCTCATGAACAACATGAGGACCTGTCCTCATGAACAACATGAAGGAACAGAGACCAGTAAAGCATGTCATTCAAACTCTCTTAACCACACCTTACAGCAAGAAATACATTTTACAATCCAACTCACATGCACGATGCA... |
Task1_train_17163 | With a mutation on Chromosome 12 in gene PIK3C2G, PLCZ1 (phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma| phospholipase C zeta 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Spermatogenic failure 17 | GTCTTTCCATTTATCACACAGTTCATTTTTTTCTGTCTCAGTTCTATCATCAGCCCTATATGTCTTGTCACTAGTGTCACAACACTTTCACTTGAAAATTTTTCACTGATTTAAATAAAATGTTAAAAGAAGTAAAATTTGAAGATCTTCCAAATTTATTATGTCAGGGAGAAAAGTTCAGCCCTGGAAACTTAGTCATGTAATACAGCTGTTTTTCTTCGATGGTGCATGACCATTGCTTTCTGACCTTTGTGTTGAGATGTTATACATTGACCAGACTCCTTATTCTTTATTCAAACCCTGACTAAATGACCTTAGAG... | GTCTTTCCATTTATCACACAGTTCATTTTTTTCTGTCTCAGTTCTATCATCAGCCCTATATGTCTTGTCACTAGTGTCACAACACTTTCACTTGAAAATTTTTCACTGATTTAAATAAAATGTTAAAAGAAGTAAAATTTGAAGATCTTCCAAATTTATTATGTCAGGGAGAAAAGTTCAGCCCTGGAAACTTAGTCATGTAATACAGCTGTTTTTCTTCGATGGTGCATGACCATTGCTTTCTGACCTTTGTGTTGAGATGTTATACATTGACCAGACTCCTTATTCTTTATTCAAACCCTGACTAAATGACCTTAGAG... |
Task1_train_17164 | Here is a mutation in PDE3A (phosphodiesterase 3A) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Brachydactyly-arterial hypertension syndrome | TATATGTAAAAGGAAGAAATTACACAAACATTCTTTTTACATATATGGCATGAGTTTTATGAAAGTAAATTGTAGGAGGATCCTCACCCAGTTTAGATCTCAATATTAATTAAAAATAAGTCATATTAAAGACAAATCAGTGTCAGTGGTCTCTGGTATATTCAGCACAGTTATTTATTTAGTAAACAATCAGCTATCCCTTTGAGCTGGTGGTCAGTCAGTAACATCTGTGCTTCTGCTGTTGTGAGTCTCTTCTCTCAGGAATGTGATCTTCATAACTTTGTCAATAACATATTTACATAGTTTCCTTCCAATATGAA... | TATATGTAAAAGGAAGAAATTACACAAACATTCTTTTTACATATATGGCATGAGTTTTATGAAAGTAAATTGTAGGAGGATCCTCACCCAGTTTAGATCTCAATATTAATTAAAAATAAGTCATATTAAAGACAAATCAGTGTCAGTGGTCTCTGGTATATTCAGCACAGTTATTTATTTAGTAAACAATCAGCTATCCCTTTGAGCTGGTGGTCAGTCAGTAACATCTGTGCTTCTGCTGTTGTGAGTCTCTTCTCTCAGGAATGTGATCTTCATAACTTTGTCAATAACATATTTACATAGTTTCCTTCCAATATGAA... |
Task1_train_17165 | This mutation occurs in PDE3A (phosphodiesterase 3A) on Chromosome 12. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Brachydactyly-arterial hypertension syndrome | ATATGTAAAAGGAAGAAATTACACAAACATTCTTTTTACATATATGGCATGAGTTTTATGAAAGTAAATTGTAGGAGGATCCTCACCCAGTTTAGATCTCAATATTAATTAAAAATAAGTCATATTAAAGACAAATCAGTGTCAGTGGTCTCTGGTATATTCAGCACAGTTATTTATTTAGTAAACAATCAGCTATCCCTTTGAGCTGGTGGTCAGTCAGTAACATCTGTGCTTCTGCTGTTGTGAGTCTCTTCTCTCAGGAATGTGATCTTCATAACTTTGTCAATAACATATTTACATAGTTTCCTTCCAATATGAAA... | ATATGTAAAAGGAAGAAATTACACAAACATTCTTTTTACATATATGGCATGAGTTTTATGAAAGTAAATTGTAGGAGGATCCTCACCCAGTTTAGATCTCAATATTAATTAAAAATAAGTCATATTAAAGACAAATCAGTGTCAGTGGTCTCTGGTATATTCAGCACAGTTATTTATTTAGTAAACAATCAGCTATCCCTTTGAGCTGGTGGTCAGTCAGTAACATCTGTGCTTCTGCTGTTGTGAGTCTCTTCTCTCAGGAATGTGATCTTCATAACTTTGTCAATAACATATTTACATAGTTTCCTTCCAATATGAAA... |
Task1_train_17166 | This variant lies on Chromosome 12 and affects the gene PDE3A (phosphodiesterase 3A). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Brachydactyly-arterial hypertension syndrome | ATATGTAAAAGGAAGAAATTACACAAACATTCTTTTTACATATATGGCATGAGTTTTATGAAAGTAAATTGTAGGAGGATCCTCACCCAGTTTAGATCTCAATATTAATTAAAAATAAGTCATATTAAAGACAAATCAGTGTCAGTGGTCTCTGGTATATTCAGCACAGTTATTTATTTAGTAAACAATCAGCTATCCCTTTGAGCTGGTGGTCAGTCAGTAACATCTGTGCTTCTGCTGTTGTGAGTCTCTTCTCTCAGGAATGTGATCTTCATAACTTTGTCAATAACATATTTACATAGTTTCCTTCCAATATGAAA... | ATATGTAAAAGGAAGAAATTACACAAACATTCTTTTTACATATATGGCATGAGTTTTATGAAAGTAAATTGTAGGAGGATCCTCACCCAGTTTAGATCTCAATATTAATTAAAAATAAGTCATATTAAAGACAAATCAGTGTCAGTGGTCTCTGGTATATTCAGCACAGTTATTTATTTAGTAAACAATCAGCTATCCCTTTGAGCTGGTGGTCAGTCAGTAACATCTGTGCTTCTGCTGTTGTGAGTCTCTTCTCTCAGGAATGTGATCTTCATAACTTTGTCAATAACATATTTACATAGTTTCCTTCCAATATGAAA... |
Task1_train_17167 | A sequence alteration has been identified in PDE3A (phosphodiesterase 3A) on Chromosome 12. Is it disease-inducing or harmless? | Pathogenic; Inborn genetic diseases | TAAAAGGAAGAAATTACACAAACATTCTTTTTACATATATGGCATGAGTTTTATGAAAGTAAATTGTAGGAGGATCCTCACCCAGTTTAGATCTCAATATTAATTAAAAATAAGTCATATTAAAGACAAATCAGTGTCAGTGGTCTCTGGTATATTCAGCACAGTTATTTATTTAGTAAACAATCAGCTATCCCTTTGAGCTGGTGGTCAGTCAGTAACATCTGTGCTTCTGCTGTTGTGAGTCTCTTCTCTCAGGAATGTGATCTTCATAACTTTGTCAATAACATATTTACATAGTTTCCTTCCAATATGAAATTCCC... | TAAAAGGAAGAAATTACACAAACATTCTTTTTACATATATGGCATGAGTTTTATGAAAGTAAATTGTAGGAGGATCCTCACCCAGTTTAGATCTCAATATTAATTAAAAATAAGTCATATTAAAGACAAATCAGTGTCAGTGGTCTCTGGTATATTCAGCACAGTTATTTATTTAGTAAACAATCAGCTATCCCTTTGAGCTGGTGGTCAGTCAGTAACATCTGTGCTTCTGCTGTTGTGAGTCTCTTCTCTCAGGAATGTGATCTTCATAACTTTGTCAATAACATATTTACATAGTTTCCTTCCAATATGAAATTCCC... |
Task1_train_17168 | A mutation found in PDE3A (phosphodiesterase 3A) on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Brachydactyly-arterial hypertension syndrome | AAAAGGAAGAAATTACACAAACATTCTTTTTACATATATGGCATGAGTTTTATGAAAGTAAATTGTAGGAGGATCCTCACCCAGTTTAGATCTCAATATTAATTAAAAATAAGTCATATTAAAGACAAATCAGTGTCAGTGGTCTCTGGTATATTCAGCACAGTTATTTATTTAGTAAACAATCAGCTATCCCTTTGAGCTGGTGGTCAGTCAGTAACATCTGTGCTTCTGCTGTTGTGAGTCTCTTCTCTCAGGAATGTGATCTTCATAACTTTGTCAATAACATATTTACATAGTTTCCTTCCAATATGAAATTCCCT... | AAAAGGAAGAAATTACACAAACATTCTTTTTACATATATGGCATGAGTTTTATGAAAGTAAATTGTAGGAGGATCCTCACCCAGTTTAGATCTCAATATTAATTAAAAATAAGTCATATTAAAGACAAATCAGTGTCAGTGGTCTCTGGTATATTCAGCACAGTTATTTATTTAGTAAACAATCAGCTATCCCTTTGAGCTGGTGGTCAGTCAGTAACATCTGTGCTTCTGCTGTTGTGAGTCTCTTCTCTCAGGAATGTGATCTTCATAACTTTGTCAATAACATATTTACATAGTTTCCTTCCAATATGAAATTCCCT... |
Task1_train_17169 | The gene PDE3A (phosphodiesterase 3A) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | AAGAAATTACACAAACATTCTTTTTACATATATGGCATGAGTTTTATGAAAGTAAATTGTAGGAGGATCCTCACCCAGTTTAGATCTCAATATTAATTAAAAATAAGTCATATTAAAGACAAATCAGTGTCAGTGGTCTCTGGTATATTCAGCACAGTTATTTATTTAGTAAACAATCAGCTATCCCTTTGAGCTGGTGGTCAGTCAGTAACATCTGTGCTTCTGCTGTTGTGAGTCTCTTCTCTCAGGAATGTGATCTTCATAACTTTGTCAATAACATATTTACATAGTTTCCTTCCAATATGAAATTCCCTGATAAA... | AAGAAATTACACAAACATTCTTTTTACATATATGGCATGAGTTTTATGAAAGTAAATTGTAGGAGGATCCTCACCCAGTTTAGATCTCAATATTAATTAAAAATAAGTCATATTAAAGACAAATCAGTGTCAGTGGTCTCTGGTATATTCAGCACAGTTATTTATTTAGTAAACAATCAGCTATCCCTTTGAGCTGGTGGTCAGTCAGTAACATCTGTGCTTCTGCTGTTGTGAGTCTCTTCTCTCAGGAATGTGATCTTCATAACTTTGTCAATAACATATTTACATAGTTTCCTTCCAATATGAAATTCCCTGATAAA... |
Task1_train_17170 | A mutation found in PDE3A (phosphodiesterase 3A) on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | AAGAAATTACACAAACATTCTTTTTACATATATGGCATGAGTTTTATGAAAGTAAATTGTAGGAGGATCCTCACCCAGTTTAGATCTCAATATTAATTAAAAATAAGTCATATTAAAGACAAATCAGTGTCAGTGGTCTCTGGTATATTCAGCACAGTTATTTATTTAGTAAACAATCAGCTATCCCTTTGAGCTGGTGGTCAGTCAGTAACATCTGTGCTTCTGCTGTTGTGAGTCTCTTCTCTCAGGAATGTGATCTTCATAACTTTGTCAATAACATATTTACATAGTTTCCTTCCAATATGAAATTCCCTGATAAA... | AAGAAATTACACAAACATTCTTTTTACATATATGGCATGAGTTTTATGAAAGTAAATTGTAGGAGGATCCTCACCCAGTTTAGATCTCAATATTAATTAAAAATAAGTCATATTAAAGACAAATCAGTGTCAGTGGTCTCTGGTATATTCAGCACAGTTATTTATTTAGTAAACAATCAGCTATCCCTTTGAGCTGGTGGTCAGTCAGTAACATCTGTGCTTCTGCTGTTGTGAGTCTCTTCTCTCAGGAATGTGATCTTCATAACTTTGTCAATAACATATTTACATAGTTTCCTTCCAATATGAAATTCCCTGATAAA... |
Task1_train_17171 | This mutation occurs in PYROXD1 (pyridine nucleotide-disulphide oxidoreductase domain 1) on Chromosome 12. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Myofibrillar myopathy 8 | GATGGTCTCGATCTCCTGACCTCGTGACCGCCCACCTAGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCTATTCCTGCCAATTTTATATTTTTAGTTGACACTATGTTTTTAAGTTCATGCTGATGTGTTATCAGCGTGAGATAACCCAGATATAATGACTGTGCTGAATATTAACAACTTATATTACACACACATTCATTACTCTACTTGGGGAATATGTGATTTGCAACCTAAATAATATAACAATTTTTTCCAAAAAGGTGAAGCGTATTCAAAATGTACTGATCTTATTCTCCAGCAAA... | GATGGTCTCGATCTCCTGACCTCGTGACCGCCCACCTAGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCTATTCCTGCCAATTTTATATTTTTAGTTGACACTATGTTTTTAAGTTCATGCTGATGTGTTATCAGCGTGAGATAACCCAGATATAATGACTGTGCTGAATATTAACAACTTATATTACACACACATTCATTACTCTACTTGGGGAATATGTGATTTGCAACCTAAATAATATAACAATTTTTTCCAAAAAGGTGAAGCGTATTCAAAATGTACTGATCTTATTCTCCAGCAAA... |
Task1_train_17172 | Given this variant in gene PYROXD1 (pyridine nucleotide-disulphide oxidoreductase domain 1) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Myofibrillar myopathy 8 | ATCAATGAGGCCTAGGCTAAAAAGCATTCCCTCGATGCTATCTGCTAATGCAGCTACCAGATCTCTTAAGTTACTGAATGAATTTTTGTTCACTCCTTTCATGTGCATAGAGAGACTTATTTTAGGGCACCCAATGTGGTTTCATTTATATTATAAGAATTATGTTTTCTATACATTTCTACAAGTATACGTTTTTTCTTCATCATTAGTAACCCGGGTTATTCTTTCTGTAAGTATTATGCTAACCAGTATTTTCTTAATTTTAGTTTTCTCATAAGATTCACCTTGAAACTATGTGTGAAGTAAAGAAAATCTACCTT... | ATCAATGAGGCCTAGGCTAAAAAGCATTCCCTCGATGCTATCTGCTAATGCAGCTACCAGATCTCTTAAGTTACTGAATGAATTTTTGTTCACTCCTTTCATGTGCATAGAGAGACTTATTTTAGGGCACCCAATGTGGTTTCATTTATATTATAAGAATTATGTTTTCTATACATTTCTACAAGTATACGTTTTTTCTTCATCATTAGTAACCCGGGTTATTCTTTCTGTAAGTATTATGCTAACCAGTATTTTCTTAATTTTAGTTTTCTCATAAGATTCACCTTGAAACTATGTGTGAAGTAAAGAAAATCTACCTT... |
Task1_train_17173 | A variant found in Chromosome 12 affects PYROXD1 (pyridine nucleotide-disulphide oxidoreductase domain 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | ACCAGATCTCTTAAGTTACTGAATGAATTTTTGTTCACTCCTTTCATGTGCATAGAGAGACTTATTTTAGGGCACCCAATGTGGTTTCATTTATATTATAAGAATTATGTTTTCTATACATTTCTACAAGTATACGTTTTTTCTTCATCATTAGTAACCCGGGTTATTCTTTCTGTAAGTATTATGCTAACCAGTATTTTCTTAATTTTAGTTTTCTCATAAGATTCACCTTGAAACTATGTGTGAAGTAAAGAAAATCTACCTTCAGGATGAGTTTAGAATTTTGAAGAAAAAGTCCTTCACTTTTCCAAGAGACCATA... | ACCAGATCTCTTAAGTTACTGAATGAATTTTTGTTCACTCCTTTCATGTGCATAGAGAGACTTATTTTAGGGCACCCAATGTGGTTTCATTTATATTATAAGAATTATGTTTTCTATACATTTCTACAAGTATACGTTTTTTCTTCATCATTAGTAACCCGGGTTATTCTTTCTGTAAGTATTATGCTAACCAGTATTTTCTTAATTTTAGTTTTCTCATAAGATTCACCTTGAAACTATGTGTGAAGTAAAGAAAATCTACCTTCAGGATGAGTTTAGAATTTTGAAGAAAAAGTCCTTCACTTTTCCAAGAGACCATA... |
Task1_train_17174 | This is a variant in GYS2 (glycogen synthase 2), located on Chromosome 12. Is this mutation a likely cause of disease or not? | Pathogenic; Glycogen storage disorder due to hepatic glycogen synthase deficiency | ACTTTGCCCTATAAAATGACACTTTGGTGGACAGTCAGCTGTTAGTTCTATAACATTTTCTTGACCCGACAGAAAGGACTTCCCACATTGCCTCAGTCACTCATGCATTTGGTTGTATACTCTTCTATCCATGATACTTCCAATAGTAAATTGTTTTACTAGAAATAATAAGAACAAGGTCAAAAACAAAGTGTTAAGTTCATCAGTGAAACGTGTGCTTTATGTATCTCAAAAGATAGTGCATTGCAAGCAATTTGAGATATTTATGTGGACATTTCCTAAGTAAGAAGACACCACCTTCACAAAAGTAGGCCACTTTT... | ACTTTGCCCTATAAAATGACACTTTGGTGGACAGTCAGCTGTTAGTTCTATAACATTTTCTTGACCCGACAGAAAGGACTTCCCACATTGCCTCAGTCACTCATGCATTTGGTTGTATACTCTTCTATCCATGATACTTCCAATAGTAAATTGTTTTACTAGAAATAATAAGAACAAGGTCAAAAACAAAGTGTTAAGTTCATCAGTGAAACGTGTGCTTTATGTATCTCAAAAGATAGTGCATTGCAAGCAATTTGAGATATTTATGTGGACATTTCCTAAGTAAGAAGACACCACCTTCACAAAAGTAGGCCACTTTT... |
Task1_train_17175 | This mutation is located in gene GYS2 (glycogen synthase 2) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Glycogen storage disorder due to hepatic glycogen synthase deficiency | AAGTAAAAATTCAAATCATTAAATTTAAAGAAACTATAGTGGCAATGTATTATTAGGAATAAACACAATAATTATCCATCTATATGAAAATCTCAAACCATACCAGGCTATGATAATATTAAAATAAAGATACATTGAAGATGATATCAACTTGTGTAAATCACATTGTGGGGACCTCTCCACAAAAACACTTCCCTTCCCCTTGAAAGGGAAATGATAGAAAATAAGTATTAAAGGCAGCTTAGGGGTTGAAAAACAAATTTTTTCAAAAAAAAATCCATTGAGCATTTTCTATGTACCAGGCACTGTTCTAGACCCTG... | AAGTAAAAATTCAAATCATTAAATTTAAAGAAACTATAGTGGCAATGTATTATTAGGAATAAACACAATAATTATCCATCTATATGAAAATCTCAAACCATACCAGGCTATGATAATATTAAAATAAAGATACATTGAAGATGATATCAACTTGTGTAAATCACATTGTGGGGACCTCTCCACAAAAACACTTCCCTTCCCCTTGAAAGGGAAATGATAGAAAATAAGTATTAAAGGCAGCTTAGGGGTTGAAAAACAAATTTTTTCAAAAAAAAATCCATTGAGCATTTTCTATGTACCAGGCACTGTTCTAGACCCTG... |
Task1_train_17176 | This mutation is located in gene ABCC9, KCNJ8-AS1 (ATP binding cassette subfamily C member 9| KCNJ8 antisense RNA 1) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Dilated cardiomyopathy 1O | AGTGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATATATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATATTAAAAAAAAAATTAAAAAAAAAAAAGAAAAAAAAAAGATTACTTCCATGGGTAAAAACCCATTTCTCTATGAGAATGAATTATTACTTGCTAACAGGCAATATGCATATTCTGCCCTACAAAATATTTAAACACCATTTTAGGAGAGTGGTTGAATTTTTAGAAAATATTTGCAAGACATAA... | AGTGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATATATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATATTAAAAAAAAAATTAAAAAAAAAAAAGAAAAAAAAAAGATTACTTCCATGGGTAAAAACCCATTTCTCTATGAGAATGAATTATTACTTGCTAACAGGCAATATGCATATTCTGCCCTACAAAATATTTAAACACCATTTTAGGAGAGTGGTTGAATTTTTAGAAAATATTTGCAAGACATAA... |
Task1_train_17177 | With a mutation on Chromosome 12 in gene ABCC9, KCNJ8-AS1 (ATP binding cassette subfamily C member 9| KCNJ8 antisense RNA 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Hypertrichotic osteochondrodysplasia Cantu type | AAATGCATTACAAAGTAACCAAATGAATGGCCTGTTCTGCCCTTCCTGTTTCAGGTGTCAGTATTTTGTTTTTTGCAGGTGGAATTCAAGATACAGAGTCTATTATATTTAGACAGGTTCAACTGCTTTTTCACGTGGGGGTTAAAGTATTGGGTTATGAGACAAACTAAACTAAACAATTTTGAGTTTGGCTGCTGTTCCTTTCTAATTTTTCCTGACCTTCCCTTTCTTGGCAGTCTTAAGGCTCTAATATCTTGTCTTCTGGCTATGAGAACAGAGCATATGGTTTGCTTGAAGATTCTTGTTCAACACTTATCCAT... | AAATGCATTACAAAGTAACCAAATGAATGGCCTGTTCTGCCCTTCCTGTTTCAGGTGTCAGTATTTTGTTTTTTGCAGGTGGAATTCAAGATACAGAGTCTATTATATTTAGACAGGTTCAACTGCTTTTTCACGTGGGGGTTAAAGTATTGGGTTATGAGACAAACTAAACTAAACAATTTTGAGTTTGGCTGCTGTTCCTTTCTAATTTTTCCTGACCTTCCCTTTCTTGGCAGTCTTAAGGCTCTAATATCTTGTCTTCTGGCTATGAGAACAGAGCATATGGTTTGCTTGAAGATTCTTGTTCAACACTTATCCAT... |
Task1_train_17178 | A variant on Chromosome 12 in gene ABCC9, KCNJ8-AS1 (ATP binding cassette subfamily C member 9| KCNJ8 antisense RNA 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Dilated cardiomyopathy 1O | AAATGCATTACAAAGTAACCAAATGAATGGCCTGTTCTGCCCTTCCTGTTTCAGGTGTCAGTATTTTGTTTTTTGCAGGTGGAATTCAAGATACAGAGTCTATTATATTTAGACAGGTTCAACTGCTTTTTCACGTGGGGGTTAAAGTATTGGGTTATGAGACAAACTAAACTAAACAATTTTGAGTTTGGCTGCTGTTCCTTTCTAATTTTTCCTGACCTTCCCTTTCTTGGCAGTCTTAAGGCTCTAATATCTTGTCTTCTGGCTATGAGAACAGAGCATATGGTTTGCTTGAAGATTCTTGTTCAACACTTATCCAT... | AAATGCATTACAAAGTAACCAAATGAATGGCCTGTTCTGCCCTTCCTGTTTCAGGTGTCAGTATTTTGTTTTTTGCAGGTGGAATTCAAGATACAGAGTCTATTATATTTAGACAGGTTCAACTGCTTTTTCACGTGGGGGTTAAAGTATTGGGTTATGAGACAAACTAAACTAAACAATTTTGAGTTTGGCTGCTGTTCCTTTCTAATTTTTCCTGACCTTCCCTTTCTTGGCAGTCTTAAGGCTCTAATATCTTGTCTTCTGGCTATGAGAACAGAGCATATGGTTTGCTTGAAGATTCTTGTTCAACACTTATCCAT... |
Task1_train_17179 | Here is a variant affecting ABCC9 (ATP binding cassette subfamily C member 9) on Chromosome 12. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hypertrichotic osteochondrodysplasia Cantu type | TCTAAAGAACCTCAACATCTAGAAGGATCCTTGTTTGTGAGGTTTAATATCATATGGTTATATTTGCTAACTTTCAGATAATTTCAAATAAGAATAGCGTACAATCCATTGTCAATATTAATTCTTTAAAATAACCATCCTCTCCATACTTTAGTCTCTAATAGATTATTCTGATGATGAACAGAATTCACAATTCAAATTTGTGATGGACTAGGAATATTTTCCCAAACTTTGCACTCCATTTGTATTGATAAAGGGCAATAATAGGACCAAATGAGTATGTGATTAAAGTAAGACATGACTGATATCAGTGTTGAGAA... | TCTAAAGAACCTCAACATCTAGAAGGATCCTTGTTTGTGAGGTTTAATATCATATGGTTATATTTGCTAACTTTCAGATAATTTCAAATAAGAATAGCGTACAATCCATTGTCAATATTAATTCTTTAAAATAACCATCCTCTCCATACTTTAGTCTCTAATAGATTATTCTGATGATGAACAGAATTCACAATTCAAATTTGTGATGGACTAGGAATATTTTCCCAAACTTTGCACTCCATTTGTATTGATAAAGGGCAATAATAGGACCAAATGAGTATGTGATTAAAGTAAGACATGACTGATATCAGTGTTGAGAA... |
Task1_train_17180 | A sequence alteration has been identified in ABCC9 (ATP binding cassette subfamily C member 9) on Chromosome 12. Is it disease-inducing or harmless? | Pathogenic; Dilated cardiomyopathy 1O | TCTAAAGAACCTCAACATCTAGAAGGATCCTTGTTTGTGAGGTTTAATATCATATGGTTATATTTGCTAACTTTCAGATAATTTCAAATAAGAATAGCGTACAATCCATTGTCAATATTAATTCTTTAAAATAACCATCCTCTCCATACTTTAGTCTCTAATAGATTATTCTGATGATGAACAGAATTCACAATTCAAATTTGTGATGGACTAGGAATATTTTCCCAAACTTTGCACTCCATTTGTATTGATAAAGGGCAATAATAGGACCAAATGAGTATGTGATTAAAGTAAGACATGACTGATATCAGTGTTGAGAA... | TCTAAAGAACCTCAACATCTAGAAGGATCCTTGTTTGTGAGGTTTAATATCATATGGTTATATTTGCTAACTTTCAGATAATTTCAAATAAGAATAGCGTACAATCCATTGTCAATATTAATTCTTTAAAATAACCATCCTCTCCATACTTTAGTCTCTAATAGATTATTCTGATGATGAACAGAATTCACAATTCAAATTTGTGATGGACTAGGAATATTTTCCCAAACTTTGCACTCCATTTGTATTGATAAAGGGCAATAATAGGACCAAATGAGTATGTGATTAAAGTAAGACATGACTGATATCAGTGTTGAGAA... |
Task1_train_17181 | Chromosome 12 houses a mutation in gene ABCC9 (ATP binding cassette subfamily C member 9). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; ABCC9-related disorder | TCTAAAGAACCTCAACATCTAGAAGGATCCTTGTTTGTGAGGTTTAATATCATATGGTTATATTTGCTAACTTTCAGATAATTTCAAATAAGAATAGCGTACAATCCATTGTCAATATTAATTCTTTAAAATAACCATCCTCTCCATACTTTAGTCTCTAATAGATTATTCTGATGATGAACAGAATTCACAATTCAAATTTGTGATGGACTAGGAATATTTTCCCAAACTTTGCACTCCATTTGTATTGATAAAGGGCAATAATAGGACCAAATGAGTATGTGATTAAAGTAAGACATGACTGATATCAGTGTTGAGAA... | TCTAAAGAACCTCAACATCTAGAAGGATCCTTGTTTGTGAGGTTTAATATCATATGGTTATATTTGCTAACTTTCAGATAATTTCAAATAAGAATAGCGTACAATCCATTGTCAATATTAATTCTTTAAAATAACCATCCTCTCCATACTTTAGTCTCTAATAGATTATTCTGATGATGAACAGAATTCACAATTCAAATTTGTGATGGACTAGGAATATTTTCCCAAACTTTGCACTCCATTTGTATTGATAAAGGGCAATAATAGGACCAAATGAGTATGTGATTAAAGTAAGACATGACTGATATCAGTGTTGAGAA... |
Task1_train_17182 | An alteration has been detected in ABCC9 (ATP binding cassette subfamily C member 9) on Chromosome 12. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | CTAAAGAACCTCAACATCTAGAAGGATCCTTGTTTGTGAGGTTTAATATCATATGGTTATATTTGCTAACTTTCAGATAATTTCAAATAAGAATAGCGTACAATCCATTGTCAATATTAATTCTTTAAAATAACCATCCTCTCCATACTTTAGTCTCTAATAGATTATTCTGATGATGAACAGAATTCACAATTCAAATTTGTGATGGACTAGGAATATTTTCCCAAACTTTGCACTCCATTTGTATTGATAAAGGGCAATAATAGGACCAAATGAGTATGTGATTAAAGTAAGACATGACTGATATCAGTGTTGAGAAG... | CTAAAGAACCTCAACATCTAGAAGGATCCTTGTTTGTGAGGTTTAATATCATATGGTTATATTTGCTAACTTTCAGATAATTTCAAATAAGAATAGCGTACAATCCATTGTCAATATTAATTCTTTAAAATAACCATCCTCTCCATACTTTAGTCTCTAATAGATTATTCTGATGATGAACAGAATTCACAATTCAAATTTGTGATGGACTAGGAATATTTTCCCAAACTTTGCACTCCATTTGTATTGATAAAGGGCAATAATAGGACCAAATGAGTATGTGATTAAAGTAAGACATGACTGATATCAGTGTTGAGAAG... |
Task1_train_17183 | This variant affects the gene ABCC9 (ATP binding cassette subfamily C member 9) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hypertrichotic osteochondrodysplasia Cantu type | ATATTAATTCTTTAAAATAACCATCCTCTCCATACTTTAGTCTCTAATAGATTATTCTGATGATGAACAGAATTCACAATTCAAATTTGTGATGGACTAGGAATATTTTCCCAAACTTTGCACTCCATTTGTATTGATAAAGGGCAATAATAGGACCAAATGAGTATGTGATTAAAGTAAGACATGACTGATATCAGTGTTGAGAAGGCAAGGACAGATTTGGAAACCATCAGCAGTGATGAAATAACTCTGAACATCTTTGCCCCACCAGCAAGTAGACCAGCAATAGTATCAGAAGAAAAGAAATGTGAAGTTGATTA... | ATATTAATTCTTTAAAATAACCATCCTCTCCATACTTTAGTCTCTAATAGATTATTCTGATGATGAACAGAATTCACAATTCAAATTTGTGATGGACTAGGAATATTTTCCCAAACTTTGCACTCCATTTGTATTGATAAAGGGCAATAATAGGACCAAATGAGTATGTGATTAAAGTAAGACATGACTGATATCAGTGTTGAGAAGGCAAGGACAGATTTGGAAACCATCAGCAGTGATGAAATAACTCTGAACATCTTTGCCCCACCAGCAAGTAGACCAGCAATAGTATCAGAAGAAAAGAAATGTGAAGTTGATTA... |
Task1_train_17184 | A variant has been detected on Chromosome 12 in ABCC9 (ATP binding cassette subfamily C member 9). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Dilated cardiomyopathy 1O | ATATTAATTCTTTAAAATAACCATCCTCTCCATACTTTAGTCTCTAATAGATTATTCTGATGATGAACAGAATTCACAATTCAAATTTGTGATGGACTAGGAATATTTTCCCAAACTTTGCACTCCATTTGTATTGATAAAGGGCAATAATAGGACCAAATGAGTATGTGATTAAAGTAAGACATGACTGATATCAGTGTTGAGAAGGCAAGGACAGATTTGGAAACCATCAGCAGTGATGAAATAACTCTGAACATCTTTGCCCCACCAGCAAGTAGACCAGCAATAGTATCAGAAGAAAAGAAATGTGAAGTTGATTA... | ATATTAATTCTTTAAAATAACCATCCTCTCCATACTTTAGTCTCTAATAGATTATTCTGATGATGAACAGAATTCACAATTCAAATTTGTGATGGACTAGGAATATTTTCCCAAACTTTGCACTCCATTTGTATTGATAAAGGGCAATAATAGGACCAAATGAGTATGTGATTAAAGTAAGACATGACTGATATCAGTGTTGAGAAGGCAAGGACAGATTTGGAAACCATCAGCAGTGATGAAATAACTCTGAACATCTTTGCCCCACCAGCAAGTAGACCAGCAATAGTATCAGAAGAAAAGAAATGTGAAGTTGATTA... |
Task1_train_17185 | The following genetic variant occurs in ABCC9 (ATP binding cassette subfamily C member 9) on Chromosome 12. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | TATTAATTCTTTAAAATAACCATCCTCTCCATACTTTAGTCTCTAATAGATTATTCTGATGATGAACAGAATTCACAATTCAAATTTGTGATGGACTAGGAATATTTTCCCAAACTTTGCACTCCATTTGTATTGATAAAGGGCAATAATAGGACCAAATGAGTATGTGATTAAAGTAAGACATGACTGATATCAGTGTTGAGAAGGCAAGGACAGATTTGGAAACCATCAGCAGTGATGAAATAACTCTGAACATCTTTGCCCCACCAGCAAGTAGACCAGCAATAGTATCAGAAGAAAAGAAATGTGAAGTTGATTAC... | TATTAATTCTTTAAAATAACCATCCTCTCCATACTTTAGTCTCTAATAGATTATTCTGATGATGAACAGAATTCACAATTCAAATTTGTGATGGACTAGGAATATTTTCCCAAACTTTGCACTCCATTTGTATTGATAAAGGGCAATAATAGGACCAAATGAGTATGTGATTAAAGTAAGACATGACTGATATCAGTGTTGAGAAGGCAAGGACAGATTTGGAAACCATCAGCAGTGATGAAATAACTCTGAACATCTTTGCCCCACCAGCAAGTAGACCAGCAATAGTATCAGAAGAAAAGAAATGTGAAGTTGATTAC... |
Task1_train_17186 | This gene mutation involves ABCC9 (ATP binding cassette subfamily C member 9) on Chromosome 12. Is it associated with any clinical condition, or is it benign? | Pathogenic; Hypertrichotic osteochondrodysplasia Cantu type | ATTTAGCTATTCCTCTACTGTAATACATTTAAATTAATTTTCTGTAATTGCTTCCTCGTATCCTTTGGGCTTTTTTGAGTGAATTAATTTTTCCTTATTGATTTTTAGATGCTCTGTATATATTATGTTTATTTAAAAAATATTTGCAAATTTTTGTTCCCAGTTATCTATTGTATTTAAATTTACCTTTGGTGCTTTTAGCTCAATCACAATTTAAAGTTTTTTATAGTCATTTCTGTTGACTTGTGGGCTCAAAAGTAACCTATTTTCCTTATTGTTTCTGAGTTCTTTGTCTTACTGAGAAAGACCTTTCCCACCCC... | ATTTAGCTATTCCTCTACTGTAATACATTTAAATTAATTTTCTGTAATTGCTTCCTCGTATCCTTTGGGCTTTTTTGAGTGAATTAATTTTTCCTTATTGATTTTTAGATGCTCTGTATATATTATGTTTATTTAAAAAATATTTGCAAATTTTTGTTCCCAGTTATCTATTGTATTTAAATTTACCTTTGGTGCTTTTAGCTCAATCACAATTTAAAGTTTTTTATAGTCATTTCTGTTGACTTGTGGGCTCAAAAGTAACCTATTTTCCTTATTGTTTCTGAGTTCTTTGTCTTACTGAGAAAGACCTTTCCCACCCC... |
Task1_train_17187 | A mutation found in ABCC9 (ATP binding cassette subfamily C member 9) on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Hypertrichotic osteochondrodysplasia Cantu type | TCATATGATATATCTTATGTAGATACTCTGCTGACTTTTCTAATTGGTTATTTTACTAATTATTTTGAATTCTCTAAGTGACAATCATGTCATCTTCTAAATAATGAGTGATTCATTTCTTCTTTTCTAATGTGTATTCCTTAGAAAGGTTTTAGGTGCAGTCTGACCTAACACCAATGCCATGAAAACATCAAAACTTCTCATCATACTCTGCAGTCAGCTGCATGCATCAACCCTCTTTCTAATTGAGGGCCATTTCGGTATTCCGAATGCTACTCTGGAAAGTCAGAAAAGACAAGGGCTGGATATGATGAATTCCT... | TCATATGATATATCTTATGTAGATACTCTGCTGACTTTTCTAATTGGTTATTTTACTAATTATTTTGAATTCTCTAAGTGACAATCATGTCATCTTCTAAATAATGAGTGATTCATTTCTTCTTTTCTAATGTGTATTCCTTAGAAAGGTTTTAGGTGCAGTCTGACCTAACACCAATGCCATGAAAACATCAAAACTTCTCATCATACTCTGCAGTCAGCTGCATGCATCAACCCTCTTTCTAATTGAGGGCCATTTCGGTATTCCGAATGCTACTCTGGAAAGTCAGAAAAGACAAGGGCTGGATATGATGAATTCCT... |
Task1_train_17188 | A sequence alteration has been identified in ABCC9 (ATP binding cassette subfamily C member 9) on Chromosome 12. Is it disease-inducing or harmless? | Pathogenic; not provided | CTTATCCAGACAGGCTTAAACTAACTATATGCATCCTTAAAAGCAGAAAACTTTCCCGGCTGTGAAGAGAGGAAGACGTGACTATGTAAAAATAGTCAGAGAGACATCATGTTGCTGGCTTCAAAGGTGGAGGAAGGCAGGCGTGAGACAAAGAATGTAGGCAGCTTGTAAACGCTGGAAAAAGCAAGAATATTGACTATTCCCGTCCCCAGAAGGGAACACAGCCCTGCTGACACTTTGATGGACTTCTAATCTATAGAAGTATAAGATAATATAATAAATCTGCATTGATTAAGTCACCAATTATGGCAATTTTTTAT... | CTTATCCAGACAGGCTTAAACTAACTATATGCATCCTTAAAAGCAGAAAACTTTCCCGGCTGTGAAGAGAGGAAGACGTGACTATGTAAAAATAGTCAGAGAGACATCATGTTGCTGGCTTCAAAGGTGGAGGAAGGCAGGCGTGAGACAAAGAATGTAGGCAGCTTGTAAACGCTGGAAAAAGCAAGAATATTGACTATTCCCGTCCCCAGAAGGGAACACAGCCCTGCTGACACTTTGATGGACTTCTAATCTATAGAAGTATAAGATAATATAATAAATCTGCATTGATTAAGTCACCAATTATGGCAATTTTTTAT... |
Task1_train_17189 | This mutation is located in gene ABCC9 (ATP binding cassette subfamily C member 9) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hypertrichotic osteochondrodysplasia Cantu type | AATCTAAACTGAATAGACTGTTGGTTATTCTGGTTGCCCTTAAAGTCGCCTGTTCTTAGAGCAACAGCAACTTACTGGAGAGTGATGTATATAGTGCAAAGGTTTTGAGACTAGATAGTTCTTTCATTCTTGTTTCCTCCACACTTTTGCAGAAAATGTGTTCCCAGGCATACAATTTTAGAAGTTTGATGCCTTTCAATATTTCATTTGTTTTCTTGAGTCTCTCAGTGGAATAATCCTATAAAACAAAGGAAGAAAAATAATACCAGCTGCATCCAAGTGAATCAGAAAGGCAGAACCATGTAATGGACAGGGATTGA... | AATCTAAACTGAATAGACTGTTGGTTATTCTGGTTGCCCTTAAAGTCGCCTGTTCTTAGAGCAACAGCAACTTACTGGAGAGTGATGTATATAGTGCAAAGGTTTTGAGACTAGATAGTTCTTTCATTCTTGTTTCCTCCACACTTTTGCAGAAAATGTGTTCCCAGGCATACAATTTTAGAAGTTTGATGCCTTTCAATATTTCATTTGTTTTCTTGAGTCTCTCAGTGGAATAATCCTATAAAACAAAGGAAGAAAAATAATACCAGCTGCATCCAAGTGAATCAGAAAGGCAGAACCATGTAATGGACAGGGATTGA... |
Task1_train_17190 | This is a variant in ABCC9 (ATP binding cassette subfamily C member 9), located on Chromosome 12. Is this mutation a likely cause of disease or not? | Pathogenic; Hypertrichotic osteochondrodysplasia Cantu type | CTTCTAAATGTCTGGAGGGATGGCATCTATTAGAGTCTCTAATTTTTCTTTTTATCAGAAATTAAGACATGCACATACCTGCGAAAAGCCCTCATAAAACATTACAAAATAGTTGGTTCCATGACAAATGCTTAGAAGTTTCATTCCTTGTTAATTGCAACAGAAAACACAAACAGATGTCAGGGAGGTTCCAGTTCAATAAGAAGAAAATAAATTTTAGACTTTCCTATCAAAAAATTTAAAGGTCTTCTAATATTAGCTCCTCAATGAAAGTTACACCATTTAGCATAATTTCATAATCAAAATTTACCTATTCTTGA... | CTTCTAAATGTCTGGAGGGATGGCATCTATTAGAGTCTCTAATTTTTCTTTTTATCAGAAATTAAGACATGCACATACCTGCGAAAAGCCCTCATAAAACATTACAAAATAGTTGGTTCCATGACAAATGCTTAGAAGTTTCATTCCTTGTTAATTGCAACAGAAAACACAAACAGATGTCAGGGAGGTTCCAGTTCAATAAGAAGAAAATAAATTTTAGACTTTCCTATCAAAAAATTTAAAGGTCTTCTAATATTAGCTCCTCAATGAAAGTTACACCATTTAGCATAATTTCATAATCAAAATTTACCTATTCTTGA... |
Task1_train_17191 | A change on Chromosome 12 affects gene SOX5 (SRY-box transcription factor 5). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Lamb-Shaffer syndrome | GTCAAGAAAGGAATTTCCAAAAAGACATCGTGGGTAAGTGAATAGTTAGATGTGGACTTTACTACATAATTAATTTGCTCAGCAATGTCCAATTCTAAGGTACTAATTTTATCTAATTGCCTAACATTTTTCAAACTCCATCCTACTTGAACTTTAATACCTTGTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGATGACGTAGTTTCGCTCCTGTTGCCTAGGCTGCAGTGCAATGGCGTGATCTTGCCTCACTGCAACCTCCCCCTCCAGGGTTCAAGCGATTCTCCTGCCTCAGCCCCCCAAGTAGCTGG... | GTCAAGAAAGGAATTTCCAAAAAGACATCGTGGGTAAGTGAATAGTTAGATGTGGACTTTACTACATAATTAATTTGCTCAGCAATGTCCAATTCTAAGGTACTAATTTTATCTAATTGCCTAACATTTTTCAAACTCCATCCTACTTGAACTTTAATACCTTGTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGATGACGTAGTTTCGCTCCTGTTGCCTAGGCTGCAGTGCAATGGCGTGATCTTGCCTCACTGCAACCTCCCCCTCCAGGGTTCAAGCGATTCTCCTGCCTCAGCCCCCCAAGTAGCTGG... |
Task1_train_17192 | A variant was discovered on Chromosome 12, affecting SOX5 (SRY-box transcription factor 5). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | GACTTTACTACATAATTAATTTGCTCAGCAATGTCCAATTCTAAGGTACTAATTTTATCTAATTGCCTAACATTTTTCAAACTCCATCCTACTTGAACTTTAATACCTTGTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGATGACGTAGTTTCGCTCCTGTTGCCTAGGCTGCAGTGCAATGGCGTGATCTTGCCTCACTGCAACCTCCCCCTCCAGGGTTCAAGCGATTCTCCTGCCTCAGCCCCCCAAGTAGCTGGGAATACAGGCGCCTGCCACCACACCTGGCTAGCTTTTGTATTTTTAGTACAGAC... | GACTTTACTACATAATTAATTTGCTCAGCAATGTCCAATTCTAAGGTACTAATTTTATCTAATTGCCTAACATTTTTCAAACTCCATCCTACTTGAACTTTAATACCTTGTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGATGACGTAGTTTCGCTCCTGTTGCCTAGGCTGCAGTGCAATGGCGTGATCTTGCCTCACTGCAACCTCCCCCTCCAGGGTTCAAGCGATTCTCCTGCCTCAGCCCCCCAAGTAGCTGGGAATACAGGCGCCTGCCACCACACCTGGCTAGCTTTTGTATTTTTAGTACAGAC... |
Task1_train_17193 | This mutation is located in gene SOX5 (SRY-box transcription factor 5) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | CTTTTCCATAGATACTTTTGCTACATTTCCTAAAATATCATTTCTTATCATCAAAACTGATATTTCTCTTATAGTTAAGATAGTTTTAATTAATGATTATCACCTTTTTGGTATTCAGACACAAGAATTGAATAATATAAAGACAGTTTTGAAATCTTAGTATTTAACTTGGTTTTTATTCTGACAATTTTGGATTTCTAATTTGGGAATAACTGATATATTAAAACATGAAATATGCTTACATAAAGTATTCTTTTCTAGAGTTTTCCCAAATGAAACTGGTATGTTGTTTTTTAAAGATAGGAAATTTCACATGGAAG... | CTTTTCCATAGATACTTTTGCTACATTTCCTAAAATATCATTTCTTATCATCAAAACTGATATTTCTCTTATAGTTAAGATAGTTTTAATTAATGATTATCACCTTTTTGGTATTCAGACACAAGAATTGAATAATATAAAGACAGTTTTGAAATCTTAGTATTTAACTTGGTTTTTATTCTGACAATTTTGGATTTCTAATTTGGGAATAACTGATATATTAAAACATGAAATATGCTTACATAAAGTATTCTTTTCTAGAGTTTTCCCAAATGAAACTGGTATGTTGTTTTTTAAAGATAGGAAATTTCACATGGAAG... |
Task1_train_17194 | This alteration occurs within gene SOX5 (SRY-box transcription factor 5) located on Chromosome 12. Is it associated with a disease or is it a benign variant? | Pathogenic; Lamb-Shaffer syndrome | ATCATTTCTTATCATCAAAACTGATATTTCTCTTATAGTTAAGATAGTTTTAATTAATGATTATCACCTTTTTGGTATTCAGACACAAGAATTGAATAATATAAAGACAGTTTTGAAATCTTAGTATTTAACTTGGTTTTTATTCTGACAATTTTGGATTTCTAATTTGGGAATAACTGATATATTAAAACATGAAATATGCTTACATAAAGTATTCTTTTCTAGAGTTTTCCCAAATGAAACTGGTATGTTGTTTTTTAAAGATAGGAAATTTCACATGGAAGGTAGAATATAGTCACAAAAAATATAGTCACAAAAGG... | ATCATTTCTTATCATCAAAACTGATATTTCTCTTATAGTTAAGATAGTTTTAATTAATGATTATCACCTTTTTGGTATTCAGACACAAGAATTGAATAATATAAAGACAGTTTTGAAATCTTAGTATTTAACTTGGTTTTTATTCTGACAATTTTGGATTTCTAATTTGGGAATAACTGATATATTAAAACATGAAATATGCTTACATAAAGTATTCTTTTCTAGAGTTTTCCCAAATGAAACTGGTATGTTGTTTTTTAAAGATAGGAAATTTCACATGGAAGGTAGAATATAGTCACAAAAAATATAGTCACAAAAGG... |
Task1_train_17195 | Consider a variant on Chromosome 12 in gene SOX5 (SRY-box transcription factor 5). Determine its clinical classification and disease relevance. | Pathogenic; not provided | AGTTAAGATAGTTTTAATTAATGATTATCACCTTTTTGGTATTCAGACACAAGAATTGAATAATATAAAGACAGTTTTGAAATCTTAGTATTTAACTTGGTTTTTATTCTGACAATTTTGGATTTCTAATTTGGGAATAACTGATATATTAAAACATGAAATATGCTTACATAAAGTATTCTTTTCTAGAGTTTTCCCAAATGAAACTGGTATGTTGTTTTTTAAAGATAGGAAATTTCACATGGAAGGTAGAATATAGTCACAAAAAATATAGTCACAAAAGGGAAAAATAGATCAGAGCTGGTAGAGATGTAAAAAAA... | AGTTAAGATAGTTTTAATTAATGATTATCACCTTTTTGGTATTCAGACACAAGAATTGAATAATATAAAGACAGTTTTGAAATCTTAGTATTTAACTTGGTTTTTATTCTGACAATTTTGGATTTCTAATTTGGGAATAACTGATATATTAAAACATGAAATATGCTTACATAAAGTATTCTTTTCTAGAGTTTTCCCAAATGAAACTGGTATGTTGTTTTTTAAAGATAGGAAATTTCACATGGAAGGTAGAATATAGTCACAAAAAATATAGTCACAAAAGGGAAAAATAGATCAGAGCTGGTAGAGATGTAAAAAAA... |
Task1_train_17196 | Chromosome 12 houses a mutation in gene KRAS (KRAS proto-oncogene, GTPase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; RASopathy | AGGGCATTTCTGATGTGACTCAGTGGGAAAACTTCATGGAGATATCCACAGCAGCAGTAAATCTTATGGTTAGGGGAATTACAAGTATTAAAACTGCATCAAGTCATGGGGCATGTGGAAGGTAGGGAGGCAAGATGACACTAATATGGAAGAAGAGTCCTAAAACGAGAATGGATATTCAAATATAAACTTCACCTCTTGCACAATTTTGCCCAAGACTGGCACTGAAGATGGTGTAACATAGGTTAAAAATTTACAGATTGTGCTGAGCTTGACAAATAAGTGTATCCTTATGTAAATGGAATATAAATTACATAGTT... | AGGGCATTTCTGATGTGACTCAGTGGGAAAACTTCATGGAGATATCCACAGCAGCAGTAAATCTTATGGTTAGGGGAATTACAAGTATTAAAACTGCATCAAGTCATGGGGCATGTGGAAGGTAGGGAGGCAAGATGACACTAATATGGAAGAAGAGTCCTAAAACGAGAATGGATATTCAAATATAAACTTCACCTCTTGCACAATTTTGCCCAAGACTGGCACTGAAGATGGTGTAACATAGGTTAAAAATTTACAGATTGTGCTGAGCTTGACAAATAAGTGTATCCTTATGTAAATGGAATATAAATTACATAGTT... |
Task1_train_17197 | Gene KRAS (KRAS proto-oncogene, GTPase), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; KRAS-related disorder | AGGGCATTTCTGATGTGACTCAGTGGGAAAACTTCATGGAGATATCCACAGCAGCAGTAAATCTTATGGTTAGGGGAATTACAAGTATTAAAACTGCATCAAGTCATGGGGCATGTGGAAGGTAGGGAGGCAAGATGACACTAATATGGAAGAAGAGTCCTAAAACGAGAATGGATATTCAAATATAAACTTCACCTCTTGCACAATTTTGCCCAAGACTGGCACTGAAGATGGTGTAACATAGGTTAAAAATTTACAGATTGTGCTGAGCTTGACAAATAAGTGTATCCTTATGTAAATGGAATATAAATTACATAGTT... | AGGGCATTTCTGATGTGACTCAGTGGGAAAACTTCATGGAGATATCCACAGCAGCAGTAAATCTTATGGTTAGGGGAATTACAAGTATTAAAACTGCATCAAGTCATGGGGCATGTGGAAGGTAGGGAGGCAAGATGACACTAATATGGAAGAAGAGTCCTAAAACGAGAATGGATATTCAAATATAAACTTCACCTCTTGCACAATTTTGCCCAAGACTGGCACTGAAGATGGTGTAACATAGGTTAAAAATTTACAGATTGTGCTGAGCTTGACAAATAAGTGTATCCTTATGTAAATGGAATATAAATTACATAGTT... |
Task1_train_17198 | A variant was discovered in gene KRAS (KRAS proto-oncogene, GTPase), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Cardio-facio-cutaneous syndrome | GGCATTTCTGATGTGACTCAGTGGGAAAACTTCATGGAGATATCCACAGCAGCAGTAAATCTTATGGTTAGGGGAATTACAAGTATTAAAACTGCATCAAGTCATGGGGCATGTGGAAGGTAGGGAGGCAAGATGACACTAATATGGAAGAAGAGTCCTAAAACGAGAATGGATATTCAAATATAAACTTCACCTCTTGCACAATTTTGCCCAAGACTGGCACTGAAGATGGTGTAACATAGGTTAAAAATTTACAGATTGTGCTGAGCTTGACAAATAAGTGTATCCTTATGTAAATGGAATATAAATTACATAGTTGT... | GGCATTTCTGATGTGACTCAGTGGGAAAACTTCATGGAGATATCCACAGCAGCAGTAAATCTTATGGTTAGGGGAATTACAAGTATTAAAACTGCATCAAGTCATGGGGCATGTGGAAGGTAGGGAGGCAAGATGACACTAATATGGAAGAAGAGTCCTAAAACGAGAATGGATATTCAAATATAAACTTCACCTCTTGCACAATTTTGCCCAAGACTGGCACTGAAGATGGTGTAACATAGGTTAAAAATTTACAGATTGTGCTGAGCTTGACAAATAAGTGTATCCTTATGTAAATGGAATATAAATTACATAGTTGT... |
Task1_train_17199 | Here is a genetic alteration in KRAS (KRAS proto-oncogene, GTPase) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Noonan syndrome | GGCATTTCTGATGTGACTCAGTGGGAAAACTTCATGGAGATATCCACAGCAGCAGTAAATCTTATGGTTAGGGGAATTACAAGTATTAAAACTGCATCAAGTCATGGGGCATGTGGAAGGTAGGGAGGCAAGATGACACTAATATGGAAGAAGAGTCCTAAAACGAGAATGGATATTCAAATATAAACTTCACCTCTTGCACAATTTTGCCCAAGACTGGCACTGAAGATGGTGTAACATAGGTTAAAAATTTACAGATTGTGCTGAGCTTGACAAATAAGTGTATCCTTATGTAAATGGAATATAAATTACATAGTTGT... | GGCATTTCTGATGTGACTCAGTGGGAAAACTTCATGGAGATATCCACAGCAGCAGTAAATCTTATGGTTAGGGGAATTACAAGTATTAAAACTGCATCAAGTCATGGGGCATGTGGAAGGTAGGGAGGCAAGATGACACTAATATGGAAGAAGAGTCCTAAAACGAGAATGGATATTCAAATATAAACTTCACCTCTTGCACAATTTTGCCCAAGACTGGCACTGAAGATGGTGTAACATAGGTTAAAAATTTACAGATTGTGCTGAGCTTGACAAATAAGTGTATCCTTATGTAAATGGAATATAAATTACATAGTTGT... |
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