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_15300 | An alteration has been detected in TPP1 (tripeptidyl peptidase 1) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | CGTTTCAAGTTCCCTTATTCAGCCTTTTAAGGATTCATAGTGGATTTGGAAAGCCCCCTCTCTTCTCCGCCAGCTGCCCCGAGAGGTGGGGGCAGCAGTGGGGCGGCACACAGTGCTGCTGTAGGAGGAGGAGGAGTTTCAGCCTGAGTCAACAACATATGCAAAAATCACAACGAATGAGAGGCGTGAGGTTTTCGGTGTAGCAGACATTTAATTCTTATTTGCCAACTCCTGAGCTAGGACCTGGGAACACAAAGTTAAATAGGACACGATTCTAGTCCTCTAGGCACCAACGGTCTTGGAAAGGAAGGCAGACAAGT... | CGTTTCAAGTTCCCTTATTCAGCCTTTTAAGGATTCATAGTGGATTTGGAAAGCCCCCTCTCTTCTCCGCCAGCTGCCCCGAGAGGTGGGGGCAGCAGTGGGGCGGCACACAGTGCTGCTGTAGGAGGAGGAGGAGTTTCAGCCTGAGTCAACAACATATGCAAAAATCACAACGAATGAGAGGCGTGAGGTTTTCGGTGTAGCAGACATTTAATTCTTATTTGCCAACTCCTGAGCTAGGACCTGGGAACACAAAGTTAAATAGGACACGATTCTAGTCCTCTAGGCACCAACGGTCTTGGAAAGGAAGGCAGACAAGT... |
Task1_train_15301 | The gene TPP1 (tripeptidyl peptidase 1) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Autosomal recessive spinocerebellar ataxia 7 | CCTAGTCCATATCAGAACCAAGATTCAAACAGGTTTTGTTTAGAAAATCTAGGATTTTTCAGCCATACCAAAATAAAGTAGCCTCAGGGAATCAAAACATTCACGAAAGAAGGTGACTTCTGAACTGAGTCTTGCAAGAATTCTGGAAATTAACCTGGCAGTTGTATCAGGGGTGGTAAGGGGACGGAACAGCTTGAGCAAGAGTGAGAGTTCCTTGGGGTTTGGGGAGGGAGGAGGAAAAATGATTTTTTACTTAAGAACAAATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCT... | CCTAGTCCATATCAGAACCAAGATTCAAACAGGTTTTGTTTAGAAAATCTAGGATTTTTCAGCCATACCAAAATAAAGTAGCCTCAGGGAATCAAAACATTCACGAAAGAAGGTGACTTCTGAACTGAGTCTTGCAAGAATTCTGGAAATTAACCTGGCAGTTGTATCAGGGGTGGTAAGGGGACGGAACAGCTTGAGCAAGAGTGAGAGTTCCTTGGGGTTTGGGGAGGGAGGAGGAAAAATGATTTTTTACTTAAGAACAAATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCT... |
Task1_train_15302 | A change on Chromosome 11 affects gene TPP1 (tripeptidyl peptidase 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Neuronal ceroid lipofuscinosis 2 | CCTAGTCCATATCAGAACCAAGATTCAAACAGGTTTTGTTTAGAAAATCTAGGATTTTTCAGCCATACCAAAATAAAGTAGCCTCAGGGAATCAAAACATTCACGAAAGAAGGTGACTTCTGAACTGAGTCTTGCAAGAATTCTGGAAATTAACCTGGCAGTTGTATCAGGGGTGGTAAGGGGACGGAACAGCTTGAGCAAGAGTGAGAGTTCCTTGGGGTTTGGGGAGGGAGGAGGAAAAATGATTTTTTACTTAAGAACAAATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCT... | CCTAGTCCATATCAGAACCAAGATTCAAACAGGTTTTGTTTAGAAAATCTAGGATTTTTCAGCCATACCAAAATAAAGTAGCCTCAGGGAATCAAAACATTCACGAAAGAAGGTGACTTCTGAACTGAGTCTTGCAAGAATTCTGGAAATTAACCTGGCAGTTGTATCAGGGGTGGTAAGGGGACGGAACAGCTTGAGCAAGAGTGAGAGTTCCTTGGGGTTTGGGGAGGGAGGAGGAAAAATGATTTTTTACTTAAGAACAAATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCT... |
Task1_train_15303 | Given this variant in gene TPP1 (tripeptidyl peptidase 1) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Neuronal ceroid lipofuscinosis 2 | GTAGCCTCAGGGAATCAAAACATTCACGAAAGAAGGTGACTTCTGAACTGAGTCTTGCAAGAATTCTGGAAATTAACCTGGCAGTTGTATCAGGGGTGGTAAGGGGACGGAACAGCTTGAGCAAGAGTGAGAGTTCCTTGGGGTTTGGGGAGGGAGGAGGAAAAATGATTTTTTACTTAAGAACAAATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCTATCCAGTAATCCTTGAAGGGTTTTCATCCAAGTGGCCTGATGGGATTTGCATTTTACTCTGGAAGATGACTTGGGGA... | GTAGCCTCAGGGAATCAAAACATTCACGAAAGAAGGTGACTTCTGAACTGAGTCTTGCAAGAATTCTGGAAATTAACCTGGCAGTTGTATCAGGGGTGGTAAGGGGACGGAACAGCTTGAGCAAGAGTGAGAGTTCCTTGGGGTTTGGGGAGGGAGGAGGAAAAATGATTTTTTACTTAAGAACAAATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCTATCCAGTAATCCTTGAAGGGTTTTCATCCAAGTGGCCTGATGGGATTTGCATTTTACTCTGGAAGATGACTTGGGGA... |
Task1_train_15304 | The gene TPP1 (tripeptidyl peptidase 1) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Autosomal recessive spinocerebellar ataxia 7 | GTAGCCTCAGGGAATCAAAACATTCACGAAAGAAGGTGACTTCTGAACTGAGTCTTGCAAGAATTCTGGAAATTAACCTGGCAGTTGTATCAGGGGTGGTAAGGGGACGGAACAGCTTGAGCAAGAGTGAGAGTTCCTTGGGGTTTGGGGAGGGAGGAGGAAAAATGATTTTTTACTTAAGAACAAATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCTATCCAGTAATCCTTGAAGGGTTTTCATCCAAGTGGCCTGATGGGATTTGCATTTTACTCTGGAAGATGACTTGGGGA... | GTAGCCTCAGGGAATCAAAACATTCACGAAAGAAGGTGACTTCTGAACTGAGTCTTGCAAGAATTCTGGAAATTAACCTGGCAGTTGTATCAGGGGTGGTAAGGGGACGGAACAGCTTGAGCAAGAGTGAGAGTTCCTTGGGGTTTGGGGAGGGAGGAGGAAAAATGATTTTTTACTTAAGAACAAATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCTATCCAGTAATCCTTGAAGGGTTTTCATCCAAGTGGCCTGATGGGATTTGCATTTTACTCTGGAAGATGACTTGGGGA... |
Task1_train_15305 | With a mutation on Chromosome 11 in gene TPP1 (tripeptidyl peptidase 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Neuronal ceroid lipofuscinosis 2 | GTAGCCTCAGGGAATCAAAACATTCACGAAAGAAGGTGACTTCTGAACTGAGTCTTGCAAGAATTCTGGAAATTAACCTGGCAGTTGTATCAGGGGTGGTAAGGGGACGGAACAGCTTGAGCAAGAGTGAGAGTTCCTTGGGGTTTGGGGAGGGAGGAGGAAAAATGATTTTTTACTTAAGAACAAATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCTATCCAGTAATCCTTGAAGGGTTTTCATCCAAGTGGCCTGATGGGATTTGCATTTTACTCTGGAAGATGACTTGGGGA... | GTAGCCTCAGGGAATCAAAACATTCACGAAAGAAGGTGACTTCTGAACTGAGTCTTGCAAGAATTCTGGAAATTAACCTGGCAGTTGTATCAGGGGTGGTAAGGGGACGGAACAGCTTGAGCAAGAGTGAGAGTTCCTTGGGGTTTGGGGAGGGAGGAGGAAAAATGATTTTTTACTTAAGAACAAATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCTATCCAGTAATCCTTGAAGGGTTTTCATCCAAGTGGCCTGATGGGATTTGCATTTTACTCTGGAAGATGACTTGGGGA... |
Task1_train_15306 | This is a variant in TPP1 (tripeptidyl peptidase 1), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; Inborn genetic diseases | ATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCTATCCAGTAATCCTTGAAGGGTTTTCATCCAAGTGGCCTGATGGGATTTGCATTTTACTCTGGAAGATGACTTGGGGATTGGCAGGAAGTAAGGACACTTTTTTTCAAGAGAATATAGCCCTAAACTAAGGTAGTAGCAGTGGGGATATAAGTGGATAAGTTCTAGATATACTTGGGAAATATAATTGGAAGGACTTGTGGACTGATAAAGATATATTTAAGATGTGCAGTCAGTAGGACTTGTTGATTGAGGACTTGTTGATT... | ATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCTATCCAGTAATCCTTGAAGGGTTTTCATCCAAGTGGCCTGATGGGATTTGCATTTTACTCTGGAAGATGACTTGGGGATTGGCAGGAAGTAAGGACACTTTTTTTCAAGAGAATATAGCCCTAAACTAAGGTAGTAGCAGTGGGGATATAAGTGGATAAGTTCTAGATATACTTGGGAAATATAATTGGAAGGACTTGTGGACTGATAAAGATATATTTAAGATGTGCAGTCAGTAGGACTTGTTGATTGAGGACTTGTTGATT... |
Task1_train_15307 | Located on Chromosome 11, this mutation impacts TPP1 (tripeptidyl peptidase 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Autosomal recessive spinocerebellar ataxia 7 | ATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCTATCCAGTAATCCTTGAAGGGTTTTCATCCAAGTGGCCTGATGGGATTTGCATTTTACTCTGGAAGATGACTTGGGGATTGGCAGGAAGTAAGGACACTTTTTTTCAAGAGAATATAGCCCTAAACTAAGGTAGTAGCAGTGGGGATATAAGTGGATAAGTTCTAGATATACTTGGGAAATATAATTGGAAGGACTTGTGGACTGATAAAGATATATTTAAGATGTGCAGTCAGTAGGACTTGTTGATTGAGGACTTGTTGATT... | ATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCTATCCAGTAATCCTTGAAGGGTTTTCATCCAAGTGGCCTGATGGGATTTGCATTTTACTCTGGAAGATGACTTGGGGATTGGCAGGAAGTAAGGACACTTTTTTTCAAGAGAATATAGCCCTAAACTAAGGTAGTAGCAGTGGGGATATAAGTGGATAAGTTCTAGATATACTTGGGAAATATAATTGGAAGGACTTGTGGACTGATAAAGATATATTTAAGATGTGCAGTCAGTAGGACTTGTTGATTGAGGACTTGTTGATT... |
Task1_train_15308 | A change on Chromosome 11 affects gene TPP1 (tripeptidyl peptidase 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Neuronal ceroid lipofuscinosis 2 | ATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCTATCCAGTAATCCTTGAAGGGTTTTCATCCAAGTGGCCTGATGGGATTTGCATTTTACTCTGGAAGATGACTTGGGGATTGGCAGGAAGTAAGGACACTTTTTTTCAAGAGAATATAGCCCTAAACTAAGGTAGTAGCAGTGGGGATATAAGTGGATAAGTTCTAGATATACTTGGGAAATATAATTGGAAGGACTTGTGGACTGATAAAGATATATTTAAGATGTGCAGTCAGTAGGACTTGTTGATTGAGGACTTGTTGATT... | ATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCTATCCAGTAATCCTTGAAGGGTTTTCATCCAAGTGGCCTGATGGGATTTGCATTTTACTCTGGAAGATGACTTGGGGATTGGCAGGAAGTAAGGACACTTTTTTTCAAGAGAATATAGCCCTAAACTAAGGTAGTAGCAGTGGGGATATAAGTGGATAAGTTCTAGATATACTTGGGAAATATAATTGGAAGGACTTGTGGACTGATAAAGATATATTTAAGATGTGCAGTCAGTAGGACTTGTTGATTGAGGACTTGTTGATT... |
Task1_train_15309 | This mutation occurs in TPP1 (tripeptidyl peptidase 1) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Neuronal ceroid lipofuscinosis 2 | ATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCTATCCAGTAATCCTTGAAGGGTTTTCATCCAAGTGGCCTGATGGGATTTGCATTTTACTCTGGAAGATGACTTGGGGATTGGCAGGAAGTAAGGACACTTTTTTTCAAGAGAATATAGCCCTAAACTAAGGTAGTAGCAGTGGGGATATAAGTGGATAAGTTCTAGATATACTTGGGAAATATAATTGGAAGGACTTGTGGACTGATAAAGATATATTTAAGATGTGCAGTCAGTAGGACTTGTTGATTGAGGACTTGTTGATT... | ATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCTATCCAGTAATCCTTGAAGGGTTTTCATCCAAGTGGCCTGATGGGATTTGCATTTTACTCTGGAAGATGACTTGGGGATTGGCAGGAAGTAAGGACACTTTTTTTCAAGAGAATATAGCCCTAAACTAAGGTAGTAGCAGTGGGGATATAAGTGGATAAGTTCTAGATATACTTGGGAAATATAATTGGAAGGACTTGTGGACTGATAAAGATATATTTAAGATGTGCAGTCAGTAGGACTTGTTGATTGAGGACTTGTTGATT... |
Task1_train_15310 | This gene mutation involves TPP1 (tripeptidyl peptidase 1) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; Neuronal ceroid lipofuscinosis | ATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCTATCCAGTAATCCTTGAAGGGTTTTCATCCAAGTGGCCTGATGGGATTTGCATTTTACTCTGGAAGATGACTTGGGGATTGGCAGGAAGTAAGGACACTTTTTTTCAAGAGAATATAGCCCTAAACTAAGGTAGTAGCAGTGGGGATATAAGTGGATAAGTTCTAGATATACTTGGGAAATATAATTGGAAGGACTTGTGGACTGATAAAGATATATTTAAGATGTGCAGTCAGTAGGACTTGTTGATTGAGGACTTGTTGATT... | ATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCTATCCAGTAATCCTTGAAGGGTTTTCATCCAAGTGGCCTGATGGGATTTGCATTTTACTCTGGAAGATGACTTGGGGATTGGCAGGAAGTAAGGACACTTTTTTTCAAGAGAATATAGCCCTAAACTAAGGTAGTAGCAGTGGGGATATAAGTGGATAAGTTCTAGATATACTTGGGAAATATAATTGGAAGGACTTGTGGACTGATAAAGATATATTTAAGATGTGCAGTCAGTAGGACTTGTTGATTGAGGACTTGTTGATT... |
Task1_train_15311 | Mutation context: Chromosome 11, Gene TPP1 (tripeptidyl peptidase 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Neuronal ceroid lipofuscinosis | AATTGATGAGAGAGGAAGACAAGAGTAGTCAGAGAAGTTAAGACCTGGAAGCTAAGTAAGGAGAGGGAGTGGGCAACTATGATGGAAAGGCCATAAAGCAAAGATTGAGAAGTATGCACTGGAGGCCATTGTTTCTGGATGTCAGGGTAGGAAAGAGTAAACGGTGACAGTAGAGGTCTCCTTGCAGTGAATTGGGGAATGAATATCAAGTGAAATAGTGCACAGAGTCTGTATACAACCCTTTGGAAAAGCCTGATTGAAAAGAGAAAGATGAGATGCGGAGGGAGAGGCATTCAAAAAATGCTAGTTACAGCATCTTA... | AATTGATGAGAGAGGAAGACAAGAGTAGTCAGAGAAGTTAAGACCTGGAAGCTAAGTAAGGAGAGGGAGTGGGCAACTATGATGGAAAGGCCATAAAGCAAAGATTGAGAAGTATGCACTGGAGGCCATTGTTTCTGGATGTCAGGGTAGGAAAGAGTAAACGGTGACAGTAGAGGTCTCCTTGCAGTGAATTGGGGAATGAATATCAAGTGAAATAGTGCACAGAGTCTGTATACAACCCTTTGGAAAAGCCTGATTGAAAAGAGAAAGATGAGATGCGGAGGGAGAGGCATTCAAAAAATGCTAGTTACAGCATCTTA... |
Task1_train_15312 | Assess the clinical impact of this variant on gene TPP1 (tripeptidyl peptidase 1), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; TPP1-related disorder | AATTGATGAGAGAGGAAGACAAGAGTAGTCAGAGAAGTTAAGACCTGGAAGCTAAGTAAGGAGAGGGAGTGGGCAACTATGATGGAAAGGCCATAAAGCAAAGATTGAGAAGTATGCACTGGAGGCCATTGTTTCTGGATGTCAGGGTAGGAAAGAGTAAACGGTGACAGTAGAGGTCTCCTTGCAGTGAATTGGGGAATGAATATCAAGTGAAATAGTGCACAGAGTCTGTATACAACCCTTTGGAAAAGCCTGATTGAAAAGAGAAAGATGAGATGCGGAGGGAGAGGCATTCAAAAAATGCTAGTTACAGCATCTTA... | AATTGATGAGAGAGGAAGACAAGAGTAGTCAGAGAAGTTAAGACCTGGAAGCTAAGTAAGGAGAGGGAGTGGGCAACTATGATGGAAAGGCCATAAAGCAAAGATTGAGAAGTATGCACTGGAGGCCATTGTTTCTGGATGTCAGGGTAGGAAAGAGTAAACGGTGACAGTAGAGGTCTCCTTGCAGTGAATTGGGGAATGAATATCAAGTGAAATAGTGCACAGAGTCTGTATACAACCCTTTGGAAAAGCCTGATTGAAAAGAGAAAGATGAGATGCGGAGGGAGAGGCATTCAAAAAATGCTAGTTACAGCATCTTA... |
Task1_train_15313 | This variant affects the gene TPP1 (tripeptidyl peptidase 1) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Neuronal ceroid lipofuscinosis | GTTACAGCATCTTATTGAGGAATCTAAGGCAGGAGTAGGGAGACCTGAGTATGATGGAGCATGGTAGGGTTGGGAGTCAAGTCAAGCTCACAGCATTTCAGGGTTAGGGAGATAAGCTGTCTGCAGCAGTCAATAGTTGAGGGTTCAGCAGGGCTTCCAACAGGGCAGAATAAGGGACTGAACTGCCAGCTTCAGGGCAGGGGACAAGCCATCTCTCCTGATAGGAAAGGGTCAGGGGTTGAGTAGAGTCTTCAGCAAAGCTGGGAAGTTGGGTGTTCCCCAGCCTGTTACAGGATCCCAGCCAGGACCAGAGCAGAAAC... | GTTACAGCATCTTATTGAGGAATCTAAGGCAGGAGTAGGGAGACCTGAGTATGATGGAGCATGGTAGGGTTGGGAGTCAAGTCAAGCTCACAGCATTTCAGGGTTAGGGAGATAAGCTGTCTGCAGCAGTCAATAGTTGAGGGTTCAGCAGGGCTTCCAACAGGGCAGAATAAGGGACTGAACTGCCAGCTTCAGGGCAGGGGACAAGCCATCTCTCCTGATAGGAAAGGGTCAGGGGTTGAGTAGAGTCTTCAGCAAAGCTGGGAAGTTGGGTGTTCCCCAGCCTGTTACAGGATCCCAGCCAGGACCAGAGCAGAAAC... |
Task1_train_15314 | This is a variant in TPP1 (tripeptidyl peptidase 1), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; Neuronal ceroid lipofuscinosis 2 | TGAGGAATCTAAGGCAGGAGTAGGGAGACCTGAGTATGATGGAGCATGGTAGGGTTGGGAGTCAAGTCAAGCTCACAGCATTTCAGGGTTAGGGAGATAAGCTGTCTGCAGCAGTCAATAGTTGAGGGTTCAGCAGGGCTTCCAACAGGGCAGAATAAGGGACTGAACTGCCAGCTTCAGGGCAGGGGACAAGCCATCTCTCCTGATAGGAAAGGGTCAGGGGTTGAGTAGAGTCTTCAGCAAAGCTGGGAAGTTGGGTGTTCCCCAGCCTGTTACAGGATCCCAGCCAGGACCAGAGCAGAAACCCTGGCCCTCTACCT... | TGAGGAATCTAAGGCAGGAGTAGGGAGACCTGAGTATGATGGAGCATGGTAGGGTTGGGAGTCAAGTCAAGCTCACAGCATTTCAGGGTTAGGGAGATAAGCTGTCTGCAGCAGTCAATAGTTGAGGGTTCAGCAGGGCTTCCAACAGGGCAGAATAAGGGACTGAACTGCCAGCTTCAGGGCAGGGGACAAGCCATCTCTCCTGATAGGAAAGGGTCAGGGGTTGAGTAGAGTCTTCAGCAAAGCTGGGAAGTTGGGTGTTCCCCAGCCTGTTACAGGATCCCAGCCAGGACCAGAGCAGAAACCCTGGCCCTCTACCT... |
Task1_train_15315 | This alteration in TPP1 (tripeptidyl peptidase 1) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Neuronal ceroid lipofuscinosis 2 | CTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGAT... | CTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGAT... |
Task1_train_15316 | This mutation is located in gene TPP1 (tripeptidyl peptidase 1) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Autosomal recessive spinocerebellar ataxia 7 | CTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGAT... | CTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGAT... |
Task1_train_15317 | A variant found in Chromosome 11 affects TPP1 (tripeptidyl peptidase 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Neuronal ceroid lipofuscinosis 2 | CTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGAT... | CTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGAT... |
Task1_train_15318 | The gene TPP1 (tripeptidyl peptidase 1) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Autosomal recessive spinocerebellar ataxia 7 | GCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGC... | GCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGC... |
Task1_train_15319 | The variant affects gene TPP1 (tripeptidyl peptidase 1), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Neuronal ceroid lipofuscinosis 2 | GCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGC... | GCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGC... |
Task1_train_15320 | Consider a variant on Chromosome 11 in gene TPP1 (tripeptidyl peptidase 1). Determine its clinical classification and disease relevance. | Pathogenic; Neuronal ceroid lipofuscinosis 2 | GCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGC... | GCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATTCCACACCACCCTAACTGCCCCCAAGTCCCCCTTAGCACTCCCCATAGTTGTTTGAAAACGTCCACACCCTTCCCTTCCATACTTACATCAAAGAGTCCTGCCCCATGCTGCTGGTAGAGCCTTGGGTTGAGAAAGCCAAGAGGGGGGCGGCCACTAAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGC... |
Task1_train_15321 | The following genetic variant occurs in TPP1 (tripeptidyl peptidase 1) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not specified | AAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGC... | AAGGATCCTGTGCTCATTGATCAAGGATAGGATCCCCCCAAACACTGGAGTAGAGGCCTACAAGAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGC... |
Task1_train_15322 | A change on Chromosome 11 affects gene TPP1 (tripeptidyl peptidase 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Neuronal ceroid lipofuscinosis 2 | GAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGT... | GAGTGAAGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGT... |
Task1_train_15323 | This mutation is located in gene TPP1 (tripeptidyl peptidase 1) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Neuronal ceroid lipofuscinosis | GGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGG... | GGCCTCAATCCCGGCCCGGCCCCGGCCCTGTTGTCCAACCACACGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGG... |
Task1_train_15324 | A variant was discovered on Chromosome 11, affecting DCHS1 (dachsous cadherin-related 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Van Maldergem syndrome 1 | TGGCCACGCCGGGCACCTTCGGGCACTTGGAAGTGGAAAGCTGGTGCCAGAAATACAGGGTCATACTCATCCTCTCCAGTCACTAGCACCGACACAGTGACAGAGGCTGAGAGATTCCCAGCATCAGCAGCACCCACCAGCAGCCGGAAGCTTTCTGTGTGCTCATAGTCAAAGGGCACTCGCGCACGCAACTCCCCTGTTGAGCTGTTCAGTGCAAATGCCTCACGGCCCTCAGGTCCTGGCCCAGCCTCCAACAGGCTGTAACGGAGCCTCCCAAAAGCCCCAGCATCCCCGTCGATTGCATGCAGAGTGGTCACGAG... | TGGCCACGCCGGGCACCTTCGGGCACTTGGAAGTGGAAAGCTGGTGCCAGAAATACAGGGTCATACTCATCCTCTCCAGTCACTAGCACCGACACAGTGACAGAGGCTGAGAGATTCCCAGCATCAGCAGCACCCACCAGCAGCCGGAAGCTTTCTGTGTGCTCATAGTCAAAGGGCACTCGCGCACGCAACTCCCCTGTTGAGCTGTTCAGTGCAAATGCCTCACGGCCCTCAGGTCCTGGCCCAGCCTCCAACAGGCTGTAACGGAGCCTCCCAAAAGCCCCAGCATCCCCGTCGATTGCATGCAGAGTGGTCACGAG... |
Task1_train_15325 | The variant affects gene AMPD3 (adenosine monophosphate deaminase 3), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Erythrocyte AMP deaminase deficiency | AAAGTGTGGGGCTTGGTGAGAAGCGGTGGGCGTACACCTGGCAGGACCTGGACAGAGACTGAAGGAGGCACTGGGGGGAGTCTAGGATGCCTCCCAGGTGCCTGGCTTTGCAGGAGCATGGATGATGTGCTGTCCGAAGGTTGCTGCCAGCAATGGAGGAAGAGCAGGTATGGGGAGGAGGAGGAAGAGCAGGAGGAGGAGACAACGCATTTTGCACCCGAGGCTGTGGGAGATGCAGTGGTGAGGCCCTGCTTCAGCTGGATAGAGCTCTGAAGAGGGGCTGAAATTATCCGCATGCCAGGCCCCAGAAAGTTCGGGTG... | AAAGTGTGGGGCTTGGTGAGAAGCGGTGGGCGTACACCTGGCAGGACCTGGACAGAGACTGAAGGAGGCACTGGGGGGAGTCTAGGATGCCTCCCAGGTGCCTGGCTTTGCAGGAGCATGGATGATGTGCTGTCCGAAGGTTGCTGCCAGCAATGGAGGAAGAGCAGGTATGGGGAGGAGGAGGAAGAGCAGGAGGAGGAGACAACGCATTTTGCACCCGAGGCTGTGGGAGATGCAGTGGTGAGGCCCTGCTTCAGCTGGATAGAGCTCTGAAGAGGGGCTGAAATTATCCGCATGCCAGGCCCCAGAAAGTTCGGGTG... |
Task1_train_15326 | Mutation context: Chromosome 11, Gene TEAD1 (TEA domain transcription factor 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Helicoid peripapillary chorioretinal degeneration | GGCAGAGGGACGCAGGGCATTCGTAGAACAGGGGAATTTGACCTAGTTCAGGCGGAAGCTGAGGAAGGCTTCCTGAGGAAGAAACAGTTGAGAGCTCTCTGCGTGGTGAATATGCAACCATGACCAAACGAACCTCTCAGCTCCTTCCCTGTCAAAGAGCACCCACTCCTAGAGGTCGTATGATATCATATGAGACAATCTGTGTAAAGCATTTGATACTGAGTAGATGGATAGTAAACACTCAATATTTGTTGGCTATTCTGATGTGAATTTTCATTCATTCAGCAATTATTTATTTATTTATTTATTTATTTATTTAT... | GGCAGAGGGACGCAGGGCATTCGTAGAACAGGGGAATTTGACCTAGTTCAGGCGGAAGCTGAGGAAGGCTTCCTGAGGAAGAAACAGTTGAGAGCTCTCTGCGTGGTGAATATGCAACCATGACCAAACGAACCTCTCAGCTCCTTCCCTGTCAAAGAGCACCCACTCCTAGAGGTCGTATGATATCATATGAGACAATCTGTGTAAAGCATTTGATACTGAGTAGATGGATAGTAAACACTCAATATTTGTTGGCTATTCTGATGTGAATTTTCATTCATTCAGCAATTATTTATTTATTTATTTATTTATTTATTTAT... |
Task1_train_15327 | This variant affects gene PTH (parathyroid hormone) located on Chromosome 11. Evaluate its biological effect and specify any disease association. | Pathogenic; Hypoparathyroidism, familial isolated 1 | CCTTCAGCATTCTCTATGATTCTGTAATGCATCCCTTTCTATTTAAAGTTAATTTTCTTTGCATTTAAACTACAGTTTGATTGATTCCACCAGAATGCAAGAAATTTGTTAATATTCTTCTGTTCTACATTTTACAAAGTTCACTTACCGTTAAACTTCCATCTCAATTGTTCATTCTATCAGGCAAGTCTACTCTCTCTGTATCTCACAGTATTTTGTATTTGTATTGTAATTACTTGCTTACCTATCTGTCTTTCTCCATTAGAAAATGAACTCTTTGAGGCCAGAGATGGAATCTTATTCATTTTTGTAATCCTGGC... | CCTTCAGCATTCTCTATGATTCTGTAATGCATCCCTTTCTATTTAAAGTTAATTTTCTTTGCATTTAAACTACAGTTTGATTGATTCCACCAGAATGCAAGAAATTTGTTAATATTCTTCTGTTCTACATTTTACAAAGTTCACTTACCGTTAAACTTCCATCTCAATTGTTCATTCTATCAGGCAAGTCTACTCTCTCTGTATCTCACAGTATTTTGTATTTGTATTGTAATTACTTGCTTACCTATCTGTCTTTCTCCATTAGAAAATGAACTCTTTGAGGCCAGAGATGGAATCTTATTCATTTTTGTAATCCTGGC... |
Task1_train_15328 | Consider this mutation in PTH (parathyroid hormone) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; Hypoparathyroidism, familial isolated 1 | ATGATTCTGTAATGCATCCCTTTCTATTTAAAGTTAATTTTCTTTGCATTTAAACTACAGTTTGATTGATTCCACCAGAATGCAAGAAATTTGTTAATATTCTTCTGTTCTACATTTTACAAAGTTCACTTACCGTTAAACTTCCATCTCAATTGTTCATTCTATCAGGCAAGTCTACTCTCTCTGTATCTCACAGTATTTTGTATTTGTATTGTAATTACTTGCTTACCTATCTGTCTTTCTCCATTAGAAAATGAACTCTTTGAGGCCAGAGATGGAATCTTATTCATTTTTGTAATCCTGGCTCTTAGCATTACAGC... | ATGATTCTGTAATGCATCCCTTTCTATTTAAAGTTAATTTTCTTTGCATTTAAACTACAGTTTGATTGATTCCACCAGAATGCAAGAAATTTGTTAATATTCTTCTGTTCTACATTTTACAAAGTTCACTTACCGTTAAACTTCCATCTCAATTGTTCATTCTATCAGGCAAGTCTACTCTCTCTGTATCTCACAGTATTTTGTATTTGTATTGTAATTACTTGCTTACCTATCTGTCTTTCTCCATTAGAAAATGAACTCTTTGAGGCCAGAGATGGAATCTTATTCATTTTTGTAATCCTGGCTCTTAGCATTACAGC... |
Task1_train_15329 | Here is a genetic alteration in FAR1 (fatty acyl-CoA reductase 1) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Fatty acyl-CoA reductase 1 deficiency | GCAAAAGGAAACTTAGTCCATAATTTTTTTTCAGCTAGATCCTCTGAAAATGAGACAAGAAGAGCTGAGGTCATTTGTTGTTTTCCTCGTGTTTAAAAATAGACATTCCTGCTAATATAAGGAGGAAAAATGTGAAAGAAAAAAGTCTGTATTTTTTAAAATAAGTTATTATTTTTGGTAGGGGAAGAAGAAAGGGTAGTTGTAAATAGTCATTAAAGTAAAAACTAATCCTTTAAGGATAATTAAAAAAAAATAGTATAGAAAAGGTGCCCATCATCCTCATGTCTTCTTGAATACTATGTAGGACTTAGATTGGATAT... | GCAAAAGGAAACTTAGTCCATAATTTTTTTTCAGCTAGATCCTCTGAAAATGAGACAAGAAGAGCTGAGGTCATTTGTTGTTTTCCTCGTGTTTAAAAATAGACATTCCTGCTAATATAAGGAGGAAAAATGTGAAAGAAAAAAGTCTGTATTTTTTAAAATAAGTTATTATTTTTGGTAGGGGAAGAAGAAAGGGTAGTTGTAAATAGTCATTAAAGTAAAAACTAATCCTTTAAGGATAATTAAAAAAAAATAGTATAGAAAAGGTGCCCATCATCCTCATGTCTTCTTGAATACTATGTAGGACTTAGATTGGATAT... |
Task1_train_15330 | This sequence change occurs on Chromosome 11, altering FAR1 (fatty acyl-CoA reductase 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY | GGGGCAGGGATGGGGGCAGTGGGAGTTGTATTTGTGTTTTGAATTGGTGACTTGGTTTCTTATTTTTGGAAAATTTCCAGGCATTGTCTTCTCAGATACTGCTTCTCTTCCTTTTTTTTTTTTTTAAATAACTGTTCTTATGGGATTCCCAATAACATACACATATACCTTCTCAAAATGTTTCCTAAGTCTTCATTTTAATGCAGAGTTACTGCATTTTTATATTTTACTGAATTTTTTATAGTAGCTTTCCCTTCCTAGAATTGGCTATTTTTAGATAAGTGATGGTATATACTGAATAATATCTTTGTAACTCCAAA... | GGGGCAGGGATGGGGGCAGTGGGAGTTGTATTTGTGTTTTGAATTGGTGACTTGGTTTCTTATTTTTGGAAAATTTCCAGGCATTGTCTTCTCAGATACTGCTTCTCTTCCTTTTTTTTTTTTTTAAATAACTGTTCTTATGGGATTCCCAATAACATACACATATACCTTCTCAAAATGTTTCCTAAGTCTTCATTTTAATGCAGAGTTACTGCATTTTTATATTTTACTGAATTTTTTATAGTAGCTTTCCCTTCCTAGAATTGGCTATTTTTAGATAAGTGATGGTATATACTGAATAATATCTTTGTAACTCCAAA... |
Task1_train_15331 | Gene RRAS2 (RAS related 2) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Noonan syndrome | TTAGCATTAAGATAATATATCATTTTCTTGGGCCAGGCATTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACAAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTATCTACTAAAAATATAAAAAATTAGCCGGGCATGCTGGCAGGCGCCTGTAGTCCCAAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAACGAGACTCCGTCTCAAAACAAA... | TTAGCATTAAGATAATATATCATTTTCTTGGGCCAGGCATTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACAAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTATCTACTAAAAATATAAAAAATTAGCCGGGCATGCTGGCAGGCGCCTGTAGTCCCAAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAACGAGACTCCGTCTCAAAACAAA... |
Task1_train_15332 | Mutation context: Chromosome 11, Gene RRAS2 (RAS related 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; RASopathy | TAAGATAATATATCATTTTCTTGGGCCAGGCATTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACAAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTATCTACTAAAAATATAAAAAATTAGCCGGGCATGCTGGCAGGCGCCTGTAGTCCCAAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAACGAGACTCCGTCTCAAAACAAAACAAAAC... | TAAGATAATATATCATTTTCTTGGGCCAGGCATTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACAAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTATCTACTAAAAATATAAAAAATTAGCCGGGCATGCTGGCAGGCGCCTGTAGTCCCAAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAACGAGACTCCGTCTCAAAACAAAACAAAAC... |
Task1_train_15333 | Here’s a variant in RRAS2, LOC130005368 (RAS related 2| ATAC-STARR-seq lymphoblastoid silent region 3172) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Noonan syndrome | CTTCAACAAATGATTCTATAAATTATTAGGAAAACGGCAATTAATGCTTTTTTTTTTTTTTTTTTGAGGCAGAGTCTCGCTCTGTTGCCCAGGCACAATCTCGGCTCACTACAATCTCCGCCTCCCGGGTTCAAGCGATTCTACTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATATTGGCCAGGCTGGTCTGGAACTCCTGACCTCGTGATTCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCAC... | CTTCAACAAATGATTCTATAAATTATTAGGAAAACGGCAATTAATGCTTTTTTTTTTTTTTTTTTGAGGCAGAGTCTCGCTCTGTTGCCCAGGCACAATCTCGGCTCACTACAATCTCCGCCTCCCGGGTTCAAGCGATTCTACTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATATTGGCCAGGCTGGTCTGGAACTCCTGACCTCGTGATTCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCAC... |
Task1_train_15334 | A genomic change on Chromosome 11 affects LOC130005368, RRAS2 (ATAC-STARR-seq lymphoblastoid silent region 3172| RAS related 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Noonan syndrome 12 | CTTCAACAAATGATTCTATAAATTATTAGGAAAACGGCAATTAATGCTTTTTTTTTTTTTTTTTTGAGGCAGAGTCTCGCTCTGTTGCCCAGGCACAATCTCGGCTCACTACAATCTCCGCCTCCCGGGTTCAAGCGATTCTACTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATATTGGCCAGGCTGGTCTGGAACTCCTGACCTCGTGATTCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCAC... | CTTCAACAAATGATTCTATAAATTATTAGGAAAACGGCAATTAATGCTTTTTTTTTTTTTTTTTTGAGGCAGAGTCTCGCTCTGTTGCCCAGGCACAATCTCGGCTCACTACAATCTCCGCCTCCCGGGTTCAAGCGATTCTACTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATATTGGCCAGGCTGGTCTGGAACTCCTGACCTCGTGATTCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCAC... |
Task1_train_15335 | Mutation context: Chromosome 11, Gene LOC130005368, RRAS2 (ATAC-STARR-seq lymphoblastoid silent region 3172| RAS related 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Noonan syndrome | TTCAACAAATGATTCTATAAATTATTAGGAAAACGGCAATTAATGCTTTTTTTTTTTTTTTTTTGAGGCAGAGTCTCGCTCTGTTGCCCAGGCACAATCTCGGCTCACTACAATCTCCGCCTCCCGGGTTCAAGCGATTCTACTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATATTGGCCAGGCTGGTCTGGAACTCCTGACCTCGTGATTCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACG... | TTCAACAAATGATTCTATAAATTATTAGGAAAACGGCAATTAATGCTTTTTTTTTTTTTTTTTTGAGGCAGAGTCTCGCTCTGTTGCCCAGGCACAATCTCGGCTCACTACAATCTCCGCCTCCCGGGTTCAAGCGATTCTACTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATATTGGCCAGGCTGGTCTGGAACTCCTGACCTCGTGATTCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACG... |
Task1_train_15336 | This is a variant in COPB1 (COPI coat complex subunit beta 1), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; Skeletal dysplasia | TGTTGATTTTTGAGCTTATAAGTTCAGTAGTAGAAAAATGTTAAATATATTTAGCAAATACATTAAACATTATCCCAATTTTGCCAACTAAATAAATTTGGATACACTTTCATTTAAATCCCTCAGTAAGTATCTAAACTCACTACTTGATCTATGAAACTCAGGATCCAAATAAAATCCAAATCATGTGGTAGCCCTTGCTCCACAAACTGAGGCACTAAACAGATTATATAGTAAGAAATGATTGTAATGCCACAAAAATAAAATTACAAATGCCCTCCCACTCCAAATTTAAACACACTGAAAGCACTGTACTTTAA... | TGTTGATTTTTGAGCTTATAAGTTCAGTAGTAGAAAAATGTTAAATATATTTAGCAAATACATTAAACATTATCCCAATTTTGCCAACTAAATAAATTTGGATACACTTTCATTTAAATCCCTCAGTAAGTATCTAAACTCACTACTTGATCTATGAAACTCAGGATCCAAATAAAATCCAAATCATGTGGTAGCCCTTGCTCCACAAACTGAGGCACTAAACAGATTATATAGTAAGAAATGATTGTAATGCCACAAAAATAAAATTACAAATGCCCTCCCACTCCAAATTTAAACACACTGAAAGCACTGTACTTTAA... |
Task1_train_15337 | A variant found in Chromosome 11 affects COPB1 (COPI coat complex subunit beta 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Short stature | TGTTGATTTTTGAGCTTATAAGTTCAGTAGTAGAAAAATGTTAAATATATTTAGCAAATACATTAAACATTATCCCAATTTTGCCAACTAAATAAATTTGGATACACTTTCATTTAAATCCCTCAGTAAGTATCTAAACTCACTACTTGATCTATGAAACTCAGGATCCAAATAAAATCCAAATCATGTGGTAGCCCTTGCTCCACAAACTGAGGCACTAAACAGATTATATAGTAAGAAATGATTGTAATGCCACAAAAATAAAATTACAAATGCCCTCCCACTCCAAATTTAAACACACTGAAAGCACTGTACTTTAA... | TGTTGATTTTTGAGCTTATAAGTTCAGTAGTAGAAAAATGTTAAATATATTTAGCAAATACATTAAACATTATCCCAATTTTGCCAACTAAATAAATTTGGATACACTTTCATTTAAATCCCTCAGTAAGTATCTAAACTCACTACTTGATCTATGAAACTCAGGATCCAAATAAAATCCAAATCATGTGGTAGCCCTTGCTCCACAAACTGAGGCACTAAACAGATTATATAGTAAGAAATGATTGTAATGCCACAAAAATAAAATTACAAATGCCCTCCCACTCCAAATTTAAACACACTGAAAGCACTGTACTTTAA... |
Task1_train_15338 | This mutation occurs in COPB1 (COPI coat complex subunit beta 1) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Failure to thrive | TGTTGATTTTTGAGCTTATAAGTTCAGTAGTAGAAAAATGTTAAATATATTTAGCAAATACATTAAACATTATCCCAATTTTGCCAACTAAATAAATTTGGATACACTTTCATTTAAATCCCTCAGTAAGTATCTAAACTCACTACTTGATCTATGAAACTCAGGATCCAAATAAAATCCAAATCATGTGGTAGCCCTTGCTCCACAAACTGAGGCACTAAACAGATTATATAGTAAGAAATGATTGTAATGCCACAAAAATAAAATTACAAATGCCCTCCCACTCCAAATTTAAACACACTGAAAGCACTGTACTTTAA... | TGTTGATTTTTGAGCTTATAAGTTCAGTAGTAGAAAAATGTTAAATATATTTAGCAAATACATTAAACATTATCCCAATTTTGCCAACTAAATAAATTTGGATACACTTTCATTTAAATCCCTCAGTAAGTATCTAAACTCACTACTTGATCTATGAAACTCAGGATCCAAATAAAATCCAAATCATGTGGTAGCCCTTGCTCCACAAACTGAGGCACTAAACAGATTATATAGTAAGAAATGATTGTAATGCCACAAAAATAAAATTACAAATGCCCTCCCACTCCAAATTTAAACACACTGAAAGCACTGTACTTTAA... |
Task1_train_15339 | This is a variant in COPB1 (COPI coat complex subunit beta 1), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; Delayed speech and language development | TGTTGATTTTTGAGCTTATAAGTTCAGTAGTAGAAAAATGTTAAATATATTTAGCAAATACATTAAACATTATCCCAATTTTGCCAACTAAATAAATTTGGATACACTTTCATTTAAATCCCTCAGTAAGTATCTAAACTCACTACTTGATCTATGAAACTCAGGATCCAAATAAAATCCAAATCATGTGGTAGCCCTTGCTCCACAAACTGAGGCACTAAACAGATTATATAGTAAGAAATGATTGTAATGCCACAAAAATAAAATTACAAATGCCCTCCCACTCCAAATTTAAACACACTGAAAGCACTGTACTTTAA... | TGTTGATTTTTGAGCTTATAAGTTCAGTAGTAGAAAAATGTTAAATATATTTAGCAAATACATTAAACATTATCCCAATTTTGCCAACTAAATAAATTTGGATACACTTTCATTTAAATCCCTCAGTAAGTATCTAAACTCACTACTTGATCTATGAAACTCAGGATCCAAATAAAATCCAAATCATGTGGTAGCCCTTGCTCCACAAACTGAGGCACTAAACAGATTATATAGTAAGAAATGATTGTAATGCCACAAAAATAAAATTACAAATGCCCTCCCACTCCAAATTTAAACACACTGAAAGCACTGTACTTTAA... |
Task1_train_15340 | Given this variant in gene CYP2R1, PDE3B (cytochrome P450 family 2 subfamily R member 1| phosphodiesterase 3B) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | TATCCAGAGTCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAACCCCATCAACAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAAAATGCTCACCATCACTGGCCATCAGAGAAATGCAAATCAAAACCATAATGAGATACCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAATTAGGAATACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGT... | TATCCAGAGTCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAACCCCATCAACAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAAAATGCTCACCATCACTGGCCATCAGAGAAATGCAAATCAAAACCATAATGAGATACCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAATTAGGAATACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGT... |
Task1_train_15341 | A variant affecting Chromosome 11, within the gene SOX6 (SRY-box transcription factor 6), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Tolchin-Le Caignec syndrome | CTGGCGGAACAGCCCCACTATGTATCACTACATACACAGGGAACATGACTGAGGGAGGGCAGGAATCACAAGAGGTCCCAAACTTAAACTTTGGATTGTTCAAAAGAGATTATACACAATCTTAGAGGTGTACTAACGGGATTAAAAGAGAATGTTTATCACATAATCTTAAAGTGGACTATGAATTAGTATTTTTCATAAATCCTCTAATTATCAGCTGAATAGCCCAATTATACCACATTGCCCTTTTTAGCGTTAAACGCATTACCTTTAAAAATGCAAACATTTATAATACAGAGGAATTTGATAATCCTATTTTG... | CTGGCGGAACAGCCCCACTATGTATCACTACATACACAGGGAACATGACTGAGGGAGGGCAGGAATCACAAGAGGTCCCAAACTTAAACTTTGGATTGTTCAAAAGAGATTATACACAATCTTAGAGGTGTACTAACGGGATTAAAAGAGAATGTTTATCACATAATCTTAAAGTGGACTATGAATTAGTATTTTTCATAAATCCTCTAATTATCAGCTGAATAGCCCAATTATACCACATTGCCCTTTTTAGCGTTAAACGCATTACCTTTAAAAATGCAAACATTTATAATACAGAGGAATTTGATAATCCTATTTTG... |
Task1_train_15342 | An alteration has been detected in SOX6 (SRY-box transcription factor 6) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Tolchin-Le Caignec syndrome | CTGTACCAATAAAAGTACAAAAATTTTAATACGGTTTATACAGGAAGAAGGATAAGTATTCACTTCTCTAATATTGTTTATAAAGAATTATCTAAACACTTGATGAAGAGGGGATGTGTTTTTTTACATGTATCAAATTGCATTTTTGTGTCTCGCTGGTGAATAAAGCGGTAACAGCTGTGCAGACTGGATGTTAGCGATTCTTCAGTGGAGATTTTTCATACATAAACAAATGGAAAAGTTGTACAAATATTCTCTGCAGCCAGCAATATCCTAGTCTGCTTTAATAGCACATGCATCCCTGCTCTTTCCTGATTGTT... | CTGTACCAATAAAAGTACAAAAATTTTAATACGGTTTATACAGGAAGAAGGATAAGTATTCACTTCTCTAATATTGTTTATAAAGAATTATCTAAACACTTGATGAAGAGGGGATGTGTTTTTTTACATGTATCAAATTGCATTTTTGTGTCTCGCTGGTGAATAAAGCGGTAACAGCTGTGCAGACTGGATGTTAGCGATTCTTCAGTGGAGATTTTTCATACATAAACAAATGGAAAAGTTGTACAAATATTCTCTGCAGCCAGCAATATCCTAGTCTGCTTTAATAGCACATGCATCCCTGCTCTTTCCTGATTGTT... |
Task1_train_15343 | A variant affecting Chromosome 11, within the gene KCNJ11 (potassium inwardly rectifying channel subfamily J member 11), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Neonatal insulin-dependent diabetes mellitus | TACTACACTAATGCCTATGACACCTCTATACCTCTCCCTGGGCACTCCAGCCTTCCAGCAGGTCCCTGGGAGTAGAGACAGAGCCCAGGGCTGCAAAGCCTGGTGAGTGCCCAAAGGCTGAGTTGGCCAGACAGGCTGACAGGGCTGGGCCACCTGAGACAGGAGAGGGGAAAGTCCCCCTGAACTGGTGGAAGAGGTGCCAGCCTTCCGTCCCTCCCCTGCCCTCCCCGCTAGGGTCTATGGCGCCTCTTGAAGGGGGTGGCAGCTGCCAGTCCCTGCCTCCCTTCCCACCAGCATGCTTGCTGCCTCCCCAGCAAGAA... | TACTACACTAATGCCTATGACACCTCTATACCTCTCCCTGGGCACTCCAGCCTTCCAGCAGGTCCCTGGGAGTAGAGACAGAGCCCAGGGCTGCAAAGCCTGGTGAGTGCCCAAAGGCTGAGTTGGCCAGACAGGCTGACAGGGCTGGGCCACCTGAGACAGGAGAGGGGAAAGTCCCCCTGAACTGGTGGAAGAGGTGCCAGCCTTCCGTCCCTCCCCTGCCCTCCCCGCTAGGGTCTATGGCGCCTCTTGAAGGGGGTGGCAGCTGCCAGTCCCTGCCTCCCTTCCCACCAGCATGCTTGCTGCCTCCCCAGCAAGAA... |
Task1_train_15344 | A variant has been detected on Chromosome 11 in KCNJ11 (potassium inwardly rectifying channel subfamily J member 11). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Diabetes mellitus, transient neonatal, 3 | GAGAAGGCAGAGTTCTAGGCAAGTTCACACAACACTGCTCCAAGGGTCCAGGCACGGGTCAAACCCGTCAGGACCAAGGGCCTCTTCACCTCAGGGACCTCAGTCCCTCCCACCATCCTGAACCTTCCCACACCTTTTCCAGCAACCCAAAGATATCCACCCCCAAGCCACCTTCTGGACAAAGTGAGTGGCAGCCACTGTTGTGGAGCCAGGACCAGAGTTGGGTCTGAGGCCTAATCATGTGTGGTGGGCACAGTACCCCCTCTCCTCAGCCTCTGGGGACAGGCAGGAGGTAGGCAGGGGCAGCAGCCCCAGCCCAC... | GAGAAGGCAGAGTTCTAGGCAAGTTCACACAACACTGCTCCAAGGGTCCAGGCACGGGTCAAACCCGTCAGGACCAAGGGCCTCTTCACCTCAGGGACCTCAGTCCCTCCCACCATCCTGAACCTTCCCACACCTTTTCCAGCAACCCAAAGATATCCACCCCCAAGCCACCTTCTGGACAAAGTGAGTGGCAGCCACTGTTGTGGAGCCAGGACCAGAGTTGGGTCTGAGGCCTAATCATGTGTGGTGGGCACAGTACCCCCTCTCCTCAGCCTCTGGGGACAGGCAGGAGGTAGGCAGGGGCAGCAGCCCCAGCCCAC... |
Task1_train_15345 | Chromosome 11 houses a mutation in gene KCNJ11 (potassium inwardly rectifying channel subfamily J member 11). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; KCNJ11-related disorder | AGAGTTCTAGGCAAGTTCACACAACACTGCTCCAAGGGTCCAGGCACGGGTCAAACCCGTCAGGACCAAGGGCCTCTTCACCTCAGGGACCTCAGTCCCTCCCACCATCCTGAACCTTCCCACACCTTTTCCAGCAACCCAAAGATATCCACCCCCAAGCCACCTTCTGGACAAAGTGAGTGGCAGCCACTGTTGTGGAGCCAGGACCAGAGTTGGGTCTGAGGCCTAATCATGTGTGGTGGGCACAGTACCCCCTCTCCTCAGCCTCTGGGGACAGGCAGGAGGTAGGCAGGGGCAGCAGCCCCAGCCCACAGAGCCCT... | AGAGTTCTAGGCAAGTTCACACAACACTGCTCCAAGGGTCCAGGCACGGGTCAAACCCGTCAGGACCAAGGGCCTCTTCACCTCAGGGACCTCAGTCCCTCCCACCATCCTGAACCTTCCCACACCTTTTCCAGCAACCCAAAGATATCCACCCCCAAGCCACCTTCTGGACAAAGTGAGTGGCAGCCACTGTTGTGGAGCCAGGACCAGAGTTGGGTCTGAGGCCTAATCATGTGTGGTGGGCACAGTACCCCCTCTCCTCAGCCTCTGGGGACAGGCAGGAGGTAGGCAGGGGCAGCAGCCCCAGCCCACAGAGCCCT... |
Task1_train_15346 | Here’s a variant in KCNJ11 (potassium inwardly rectifying channel subfamily J member 11) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | GAGTTCTAGGCAAGTTCACACAACACTGCTCCAAGGGTCCAGGCACGGGTCAAACCCGTCAGGACCAAGGGCCTCTTCACCTCAGGGACCTCAGTCCCTCCCACCATCCTGAACCTTCCCACACCTTTTCCAGCAACCCAAAGATATCCACCCCCAAGCCACCTTCTGGACAAAGTGAGTGGCAGCCACTGTTGTGGAGCCAGGACCAGAGTTGGGTCTGAGGCCTAATCATGTGTGGTGGGCACAGTACCCCCTCTCCTCAGCCTCTGGGGACAGGCAGGAGGTAGGCAGGGGCAGCAGCCCCAGCCCACAGAGCCCTC... | GAGTTCTAGGCAAGTTCACACAACACTGCTCCAAGGGTCCAGGCACGGGTCAAACCCGTCAGGACCAAGGGCCTCTTCACCTCAGGGACCTCAGTCCCTCCCACCATCCTGAACCTTCCCACACCTTTTCCAGCAACCCAAAGATATCCACCCCCAAGCCACCTTCTGGACAAAGTGAGTGGCAGCCACTGTTGTGGAGCCAGGACCAGAGTTGGGTCTGAGGCCTAATCATGTGTGGTGGGCACAGTACCCCCTCTCCTCAGCCTCTGGGGACAGGCAGGAGGTAGGCAGGGGCAGCAGCCCCAGCCCACAGAGCCCTC... |
Task1_train_15347 | This sequence variant lies in KCNJ11 (potassium inwardly rectifying channel subfamily J member 11) on Chromosome 11. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Neonatal insulin-dependent diabetes mellitus | AAGATATCCACCCCCAAGCCACCTTCTGGACAAAGTGAGTGGCAGCCACTGTTGTGGAGCCAGGACCAGAGTTGGGTCTGAGGCCTAATCATGTGTGGTGGGCACAGTACCCCCTCTCCTCAGCCTCTGGGGACAGGCAGGAGGTAGGCAGGGGCAGCAGCCCCAGCCCACAGAGCCCTCACTGCACGAGGCCGATGTGGCAAAAGGCAGGAGCCCTGGCATCTCCTCCTCCCTGTGCCTGAGCGGGGCTCTACAAAGCCGAGCCTCCTCAGGTCACCTTCCCCTGCTTCCTCCCCTTCCAGACCTGAAACTGGCCCTCG... | AAGATATCCACCCCCAAGCCACCTTCTGGACAAAGTGAGTGGCAGCCACTGTTGTGGAGCCAGGACCAGAGTTGGGTCTGAGGCCTAATCATGTGTGGTGGGCACAGTACCCCCTCTCCTCAGCCTCTGGGGACAGGCAGGAGGTAGGCAGGGGCAGCAGCCCCAGCCCACAGAGCCCTCACTGCACGAGGCCGATGTGGCAAAAGGCAGGAGCCCTGGCATCTCCTCCTCCCTGTGCCTGAGCGGGGCTCTACAAAGCCGAGCCTCCTCAGGTCACCTTCCCCTGCTTCCTCCCCTTCCAGACCTGAAACTGGCCCTCG... |
Task1_train_15348 | This variant impacts the gene ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | TTACTTTGAATTGGGTTCCTGTCATTTGCAATTGAAATAGTGTTAATCCAGATTTTAATTCAAGAATGAAAGTGAGAAGAAAGGAGACCAAGCTGTATGGAGATCTGTTACCTTATCTGATAAGCTCATTGCAGAAATGCTATCACCCTTGCTATGGACATAATTGTGTCCTGCCAAATTCACAGGTTGAAGCCTAATCCTACAATGTAACTGTATTTGGAAACAGGGCCTGTGAGGAGATAATTAAGGTTTAATGAGGTAATAGGGGTGGGGCCCTAATCCAATATGACTGGTGTCCTTTTAAGACACAGAGAGAAAGC... | TTACTTTGAATTGGGTTCCTGTCATTTGCAATTGAAATAGTGTTAATCCAGATTTTAATTCAAGAATGAAAGTGAGAAGAAAGGAGACCAAGCTGTATGGAGATCTGTTACCTTATCTGATAAGCTCATTGCAGAAATGCTATCACCCTTGCTATGGACATAATTGTGTCCTGCCAAATTCACAGGTTGAAGCCTAATCCTACAATGTAACTGTATTTGGAAACAGGGCCTGTGAGGAGATAATTAAGGTTTAATGAGGTAATAGGGGTGGGGCCCTAATCCAATATGACTGGTGTCCTTTTAAGACACAGAGAGAAAGC... |
Task1_train_15349 | Gene ABCC8 (ATP binding cassette subfamily C member 8), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Hyperinsulinemic hypoglycemia, familial, 1 | TCCTGTCATTTGCAATTGAAATAGTGTTAATCCAGATTTTAATTCAAGAATGAAAGTGAGAAGAAAGGAGACCAAGCTGTATGGAGATCTGTTACCTTATCTGATAAGCTCATTGCAGAAATGCTATCACCCTTGCTATGGACATAATTGTGTCCTGCCAAATTCACAGGTTGAAGCCTAATCCTACAATGTAACTGTATTTGGAAACAGGGCCTGTGAGGAGATAATTAAGGTTTAATGAGGTAATAGGGGTGGGGCCCTAATCCAATATGACTGGTGTCCTTTTAAGACACAGAGAGAAAGCAGGGATGCATGTGCAC... | TCCTGTCATTTGCAATTGAAATAGTGTTAATCCAGATTTTAATTCAAGAATGAAAGTGAGAAGAAAGGAGACCAAGCTGTATGGAGATCTGTTACCTTATCTGATAAGCTCATTGCAGAAATGCTATCACCCTTGCTATGGACATAATTGTGTCCTGCCAAATTCACAGGTTGAAGCCTAATCCTACAATGTAACTGTATTTGGAAACAGGGCCTGTGAGGAGATAATTAAGGTTTAATGAGGTAATAGGGGTGGGGCCCTAATCCAATATGACTGGTGTCCTTTTAAGACACAGAGAGAAAGCAGGGATGCATGTGCAC... |
Task1_train_15350 | This is a variant in ABCC8 (ATP binding cassette subfamily C member 8), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | CCTGTCATTTGCAATTGAAATAGTGTTAATCCAGATTTTAATTCAAGAATGAAAGTGAGAAGAAAGGAGACCAAGCTGTATGGAGATCTGTTACCTTATCTGATAAGCTCATTGCAGAAATGCTATCACCCTTGCTATGGACATAATTGTGTCCTGCCAAATTCACAGGTTGAAGCCTAATCCTACAATGTAACTGTATTTGGAAACAGGGCCTGTGAGGAGATAATTAAGGTTTAATGAGGTAATAGGGGTGGGGCCCTAATCCAATATGACTGGTGTCCTTTTAAGACACAGAGAGAAAGCAGGGATGCATGTGCACA... | CCTGTCATTTGCAATTGAAATAGTGTTAATCCAGATTTTAATTCAAGAATGAAAGTGAGAAGAAAGGAGACCAAGCTGTATGGAGATCTGTTACCTTATCTGATAAGCTCATTGCAGAAATGCTATCACCCTTGCTATGGACATAATTGTGTCCTGCCAAATTCACAGGTTGAAGCCTAATCCTACAATGTAACTGTATTTGGAAACAGGGCCTGTGAGGAGATAATTAAGGTTTAATGAGGTAATAGGGGTGGGGCCCTAATCCAATATGACTGGTGTCCTTTTAAGACACAGAGAGAAAGCAGGGATGCATGTGCACA... |
Task1_train_15351 | With a mutation on Chromosome 11 in gene ABCC8 (ATP binding cassette subfamily C member 8), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | CGATGCTGGGCAGGGCAGGAGGGGGCGGGTCAGGATGGTGGGAATACCACCCGCGGTGGGGGCCACAGCTGAGGGTGGCCCTCCTGCGGCTTGGAGGAGGAGGATGAGGCATGTGGCCAGAATGTCCTGTCACTGTGGGGACTGCACTTTCCTGGGGTGGATGTGACTACAAGCTCTCCATCTGCTAATACCACCCTTCTCTCCTCTCCAAGTCCCAACTCTACCCCACCTCCAGGCTTCAAGGCTCAGAGACCCTCCACAACCCCTCCCCCACTTCCTATGGAGAAGTAACGCCAGCCTAACATATAAGGCCTTGGGAC... | CGATGCTGGGCAGGGCAGGAGGGGGCGGGTCAGGATGGTGGGAATACCACCCGCGGTGGGGGCCACAGCTGAGGGTGGCCCTCCTGCGGCTTGGAGGAGGAGGATGAGGCATGTGGCCAGAATGTCCTGTCACTGTGGGGACTGCACTTTCCTGGGGTGGATGTGACTACAAGCTCTCCATCTGCTAATACCACCCTTCTCTCCTCTCCAAGTCCCAACTCTACCCCACCTCCAGGCTTCAAGGCTCAGAGACCCTCCACAACCCCTCCCCCACTTCCTATGGAGAAGTAACGCCAGCCTAACATATAAGGCCTTGGGAC... |
Task1_train_15352 | Chromosome 11 houses a mutation in gene ABCC8 (ATP binding cassette subfamily C member 8). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | GAATACCACCCGCGGTGGGGGCCACAGCTGAGGGTGGCCCTCCTGCGGCTTGGAGGAGGAGGATGAGGCATGTGGCCAGAATGTCCTGTCACTGTGGGGACTGCACTTTCCTGGGGTGGATGTGACTACAAGCTCTCCATCTGCTAATACCACCCTTCTCTCCTCTCCAAGTCCCAACTCTACCCCACCTCCAGGCTTCAAGGCTCAGAGACCCTCCACAACCCCTCCCCCACTTCCTATGGAGAAGTAACGCCAGCCTAACATATAAGGCCTTGGGACAGGGGCAGGCCTTGGAACCTGGAGAAGGAGAGGGGAGGTCT... | GAATACCACCCGCGGTGGGGGCCACAGCTGAGGGTGGCCCTCCTGCGGCTTGGAGGAGGAGGATGAGGCATGTGGCCAGAATGTCCTGTCACTGTGGGGACTGCACTTTCCTGGGGTGGATGTGACTACAAGCTCTCCATCTGCTAATACCACCCTTCTCTCCTCTCCAAGTCCCAACTCTACCCCACCTCCAGGCTTCAAGGCTCAGAGACCCTCCACAACCCCTCCCCCACTTCCTATGGAGAAGTAACGCCAGCCTAACATATAAGGCCTTGGGACAGGGGCAGGCCTTGGAACCTGGAGAAGGAGAGGGGAGGTCT... |
Task1_train_15353 | A sequence alteration has been identified in ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11. Is it disease-inducing or harmless? | Pathogenic; Hyperinsulinemic hypoglycemia, familial, 1 | AATACCACCCGCGGTGGGGGCCACAGCTGAGGGTGGCCCTCCTGCGGCTTGGAGGAGGAGGATGAGGCATGTGGCCAGAATGTCCTGTCACTGTGGGGACTGCACTTTCCTGGGGTGGATGTGACTACAAGCTCTCCATCTGCTAATACCACCCTTCTCTCCTCTCCAAGTCCCAACTCTACCCCACCTCCAGGCTTCAAGGCTCAGAGACCCTCCACAACCCCTCCCCCACTTCCTATGGAGAAGTAACGCCAGCCTAACATATAAGGCCTTGGGACAGGGGCAGGCCTTGGAACCTGGAGAAGGAGAGGGGAGGTCTG... | AATACCACCCGCGGTGGGGGCCACAGCTGAGGGTGGCCCTCCTGCGGCTTGGAGGAGGAGGATGAGGCATGTGGCCAGAATGTCCTGTCACTGTGGGGACTGCACTTTCCTGGGGTGGATGTGACTACAAGCTCTCCATCTGCTAATACCACCCTTCTCTCCTCTCCAAGTCCCAACTCTACCCCACCTCCAGGCTTCAAGGCTCAGAGACCCTCCACAACCCCTCCCCCACTTCCTATGGAGAAGTAACGCCAGCCTAACATATAAGGCCTTGGGACAGGGGCAGGCCTTGGAACCTGGAGAAGGAGAGGGGAGGTCTG... |
Task1_train_15354 | With a mutation on Chromosome 11 in gene ABCC8 (ATP binding cassette subfamily C member 8), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Type 2 diabetes mellitus | CCTGAACTGCCTGCTTCAGGGTTCTTTCTTGATTACTGGGACCAGGCAAGCCCAGGGGCTGTGCACTGATGACGGCCACAACAGGCCAGTCCTGTCCCTGGGTGTCCCTCTGCACCCCATCAATGGGCCCCTTACCGCGATGGTGACCACAGTGCGGTCTGCGAAGGCTGTCATCACCACCTTTTGGAGGATGTTTTCCTGCCAAGTGGGGGCAACAGCTGTTGGCTCACCTGCCCAGTGGATGGGGTCTGGCCTGGCTTGGGGGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCAC... | CCTGAACTGCCTGCTTCAGGGTTCTTTCTTGATTACTGGGACCAGGCAAGCCCAGGGGCTGTGCACTGATGACGGCCACAACAGGCCAGTCCTGTCCCTGGGTGTCCCTCTGCACCCCATCAATGGGCCCCTTACCGCGATGGTGACCACAGTGCGGTCTGCGAAGGCTGTCATCACCACCTTTTGGAGGATGTTTTCCTGCCAAGTGGGGGCAACAGCTGTTGGCTCACCTGCCCAGTGGATGGGGTCTGGCCTGGCTTGGGGGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCAC... |
Task1_train_15355 | A change on Chromosome 11 affects gene ABCC8 (ATP binding cassette subfamily C member 8). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Familial hyperinsulinism | CCTGAACTGCCTGCTTCAGGGTTCTTTCTTGATTACTGGGACCAGGCAAGCCCAGGGGCTGTGCACTGATGACGGCCACAACAGGCCAGTCCTGTCCCTGGGTGTCCCTCTGCACCCCATCAATGGGCCCCTTACCGCGATGGTGACCACAGTGCGGTCTGCGAAGGCTGTCATCACCACCTTTTGGAGGATGTTTTCCTGCCAAGTGGGGGCAACAGCTGTTGGCTCACCTGCCCAGTGGATGGGGTCTGGCCTGGCTTGGGGGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCAC... | CCTGAACTGCCTGCTTCAGGGTTCTTTCTTGATTACTGGGACCAGGCAAGCCCAGGGGCTGTGCACTGATGACGGCCACAACAGGCCAGTCCTGTCCCTGGGTGTCCCTCTGCACCCCATCAATGGGCCCCTTACCGCGATGGTGACCACAGTGCGGTCTGCGAAGGCTGTCATCACCACCTTTTGGAGGATGTTTTCCTGCCAAGTGGGGGCAACAGCTGTTGGCTCACCTGCCCAGTGGATGGGGTCTGGCCTGGCTTGGGGGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCAC... |
Task1_train_15356 | A genetic alteration is present in ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hyperinsulinemic hypoglycemia, familial, 1 | CCTGAACTGCCTGCTTCAGGGTTCTTTCTTGATTACTGGGACCAGGCAAGCCCAGGGGCTGTGCACTGATGACGGCCACAACAGGCCAGTCCTGTCCCTGGGTGTCCCTCTGCACCCCATCAATGGGCCCCTTACCGCGATGGTGACCACAGTGCGGTCTGCGAAGGCTGTCATCACCACCTTTTGGAGGATGTTTTCCTGCCAAGTGGGGGCAACAGCTGTTGGCTCACCTGCCCAGTGGATGGGGTCTGGCCTGGCTTGGGGGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCAC... | CCTGAACTGCCTGCTTCAGGGTTCTTTCTTGATTACTGGGACCAGGCAAGCCCAGGGGCTGTGCACTGATGACGGCCACAACAGGCCAGTCCTGTCCCTGGGTGTCCCTCTGCACCCCATCAATGGGCCCCTTACCGCGATGGTGACCACAGTGCGGTCTGCGAAGGCTGTCATCACCACCTTTTGGAGGATGTTTTCCTGCCAAGTGGGGGCAACAGCTGTTGGCTCACCTGCCCAGTGGATGGGGTCTGGCCTGGCTTGGGGGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCAC... |
Task1_train_15357 | A change on Chromosome 11 affects gene ABCC8 (ATP binding cassette subfamily C member 8). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Diabetes mellitus, permanent neonatal 3 | GGGACCAGGCAAGCCCAGGGGCTGTGCACTGATGACGGCCACAACAGGCCAGTCCTGTCCCTGGGTGTCCCTCTGCACCCCATCAATGGGCCCCTTACCGCGATGGTGACCACAGTGCGGTCTGCGAAGGCTGTCATCACCACCTTTTGGAGGATGTTTTCCTGCCAAGTGGGGGCAACAGCTGTTGGCTCACCTGCCCAGTGGATGGGGTCTGGCCTGGCTTGGGGGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCA... | GGGACCAGGCAAGCCCAGGGGCTGTGCACTGATGACGGCCACAACAGGCCAGTCCTGTCCCTGGGTGTCCCTCTGCACCCCATCAATGGGCCCCTTACCGCGATGGTGACCACAGTGCGGTCTGCGAAGGCTGTCATCACCACCTTTTGGAGGATGTTTTCCTGCCAAGTGGGGGCAACAGCTGTTGGCTCACCTGCCCAGTGGATGGGGTCTGGCCTGGCTTGGGGGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCA... |
Task1_train_15358 | A variant on Chromosome 11 in gene ABCC8 (ATP binding cassette subfamily C member 8) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | GGGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGC... | GGGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGC... |
Task1_train_15359 | This variant impacts the gene ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11. Is the change likely to result in a pathogenic outcome? | Pathogenic; Type 2 diabetes mellitus | GGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCA... | GGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCA... |
Task1_train_15360 | Here is a genetic alteration in ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Diabetes mellitus, transient neonatal, 2 | GGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCA... | GGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCA... |
Task1_train_15361 | This alteration in ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Diabetes mellitus, permanent neonatal 3 | GGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCA... | GGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCA... |
Task1_train_15362 | A mutation in ABCC8 (ATP binding cassette subfamily C member 8), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hyperinsulinemic hypoglycemia, familial, 1 | GGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCA... | GGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCA... |
Task1_train_15363 | This variant lies on Chromosome 11 and affects the gene ABCC8 (ATP binding cassette subfamily C member 8). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Leucine-induced hypoglycemia | GGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCA... | GGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCA... |
Task1_train_15364 | A variant was discovered in gene ABCC8 (ATP binding cassette subfamily C member 8), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Type 2 diabetes mellitus | GGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCA... | GGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCA... |
Task1_train_15365 | The gene ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | TGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACA... | TGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACA... |
Task1_train_15366 | A genetic alteration is present in ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hyperinsulinemic hypoglycemia, familial, 1 | TGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTA... | TGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTA... |
Task1_train_15367 | This is a variant in ABCC8 (ATP binding cassette subfamily C member 8), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | TCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTAGAGGCAACT... | TCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTGATGTTAGAGGCAACT... |
Task1_train_15368 | Here is a variant affecting ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Type 2 diabetes mellitus | GTGCTGGGCACTCTTGAAACTCTTTTGGGAAAAAATAAGATCTCTTAGGAAAGCCCAGAAGGTCAGGCAAACCTGGGTTCCAAGCTCAGCGCCAGCCCCCGCAGTCTGTGTGACCTTGGATTGATTACCCAGCCTCTCTGGGTCTCGCTTCTGCATCTGGAGAATGTGGCGATTCGTACCTATGTTATGTGGTCCTTGTGAGGATTAAATGTAATAATGCACATACAACACTTAGCACGGTGCCTGGCATACAGTAAGTGGGCAATCAATAAGTGCTAATAGCTCTCAACAGGCTGCTGGATTAAAGCCAATGCATTAAA... | GTGCTGGGCACTCTTGAAACTCTTTTGGGAAAAAATAAGATCTCTTAGGAAAGCCCAGAAGGTCAGGCAAACCTGGGTTCCAAGCTCAGCGCCAGCCCCCGCAGTCTGTGTGACCTTGGATTGATTACCCAGCCTCTCTGGGTCTCGCTTCTGCATCTGGAGAATGTGGCGATTCGTACCTATGTTATGTGGTCCTTGTGAGGATTAAATGTAATAATGCACATACAACACTTAGCACGGTGCCTGGCATACAGTAAGTGGGCAATCAATAAGTGCTAATAGCTCTCAACAGGCTGCTGGATTAAAGCCAATGCATTAAA... |
Task1_train_15369 | This sequence variant lies in ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Diabetes mellitus, transient neonatal, 2 | GTGCTGGGCACTCTTGAAACTCTTTTGGGAAAAAATAAGATCTCTTAGGAAAGCCCAGAAGGTCAGGCAAACCTGGGTTCCAAGCTCAGCGCCAGCCCCCGCAGTCTGTGTGACCTTGGATTGATTACCCAGCCTCTCTGGGTCTCGCTTCTGCATCTGGAGAATGTGGCGATTCGTACCTATGTTATGTGGTCCTTGTGAGGATTAAATGTAATAATGCACATACAACACTTAGCACGGTGCCTGGCATACAGTAAGTGGGCAATCAATAAGTGCTAATAGCTCTCAACAGGCTGCTGGATTAAAGCCAATGCATTAAA... | GTGCTGGGCACTCTTGAAACTCTTTTGGGAAAAAATAAGATCTCTTAGGAAAGCCCAGAAGGTCAGGCAAACCTGGGTTCCAAGCTCAGCGCCAGCCCCCGCAGTCTGTGTGACCTTGGATTGATTACCCAGCCTCTCTGGGTCTCGCTTCTGCATCTGGAGAATGTGGCGATTCGTACCTATGTTATGTGGTCCTTGTGAGGATTAAATGTAATAATGCACATACAACACTTAGCACGGTGCCTGGCATACAGTAAGTGGGCAATCAATAAGTGCTAATAGCTCTCAACAGGCTGCTGGATTAAAGCCAATGCATTAAA... |
Task1_train_15370 | A genetic alteration is present in ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hyperinsulinemic hypoglycemia, familial, 1 | GTGCTGGGCACTCTTGAAACTCTTTTGGGAAAAAATAAGATCTCTTAGGAAAGCCCAGAAGGTCAGGCAAACCTGGGTTCCAAGCTCAGCGCCAGCCCCCGCAGTCTGTGTGACCTTGGATTGATTACCCAGCCTCTCTGGGTCTCGCTTCTGCATCTGGAGAATGTGGCGATTCGTACCTATGTTATGTGGTCCTTGTGAGGATTAAATGTAATAATGCACATACAACACTTAGCACGGTGCCTGGCATACAGTAAGTGGGCAATCAATAAGTGCTAATAGCTCTCAACAGGCTGCTGGATTAAAGCCAATGCATTAAA... | GTGCTGGGCACTCTTGAAACTCTTTTGGGAAAAAATAAGATCTCTTAGGAAAGCCCAGAAGGTCAGGCAAACCTGGGTTCCAAGCTCAGCGCCAGCCCCCGCAGTCTGTGTGACCTTGGATTGATTACCCAGCCTCTCTGGGTCTCGCTTCTGCATCTGGAGAATGTGGCGATTCGTACCTATGTTATGTGGTCCTTGTGAGGATTAAATGTAATAATGCACATACAACACTTAGCACGGTGCCTGGCATACAGTAAGTGGGCAATCAATAAGTGCTAATAGCTCTCAACAGGCTGCTGGATTAAAGCCAATGCATTAAA... |
Task1_train_15371 | A sequence alteration has been identified in ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11. Is it disease-inducing or harmless? | Pathogenic; Leucine-induced hypoglycemia | GTGCTGGGCACTCTTGAAACTCTTTTGGGAAAAAATAAGATCTCTTAGGAAAGCCCAGAAGGTCAGGCAAACCTGGGTTCCAAGCTCAGCGCCAGCCCCCGCAGTCTGTGTGACCTTGGATTGATTACCCAGCCTCTCTGGGTCTCGCTTCTGCATCTGGAGAATGTGGCGATTCGTACCTATGTTATGTGGTCCTTGTGAGGATTAAATGTAATAATGCACATACAACACTTAGCACGGTGCCTGGCATACAGTAAGTGGGCAATCAATAAGTGCTAATAGCTCTCAACAGGCTGCTGGATTAAAGCCAATGCATTAAA... | GTGCTGGGCACTCTTGAAACTCTTTTGGGAAAAAATAAGATCTCTTAGGAAAGCCCAGAAGGTCAGGCAAACCTGGGTTCCAAGCTCAGCGCCAGCCCCCGCAGTCTGTGTGACCTTGGATTGATTACCCAGCCTCTCTGGGTCTCGCTTCTGCATCTGGAGAATGTGGCGATTCGTACCTATGTTATGTGGTCCTTGTGAGGATTAAATGTAATAATGCACATACAACACTTAGCACGGTGCCTGGCATACAGTAAGTGGGCAATCAATAAGTGCTAATAGCTCTCAACAGGCTGCTGGATTAAAGCCAATGCATTAAA... |
Task1_train_15372 | This mutation is located in gene ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Diabetes mellitus, permanent neonatal 3 | GTGCTGGGCACTCTTGAAACTCTTTTGGGAAAAAATAAGATCTCTTAGGAAAGCCCAGAAGGTCAGGCAAACCTGGGTTCCAAGCTCAGCGCCAGCCCCCGCAGTCTGTGTGACCTTGGATTGATTACCCAGCCTCTCTGGGTCTCGCTTCTGCATCTGGAGAATGTGGCGATTCGTACCTATGTTATGTGGTCCTTGTGAGGATTAAATGTAATAATGCACATACAACACTTAGCACGGTGCCTGGCATACAGTAAGTGGGCAATCAATAAGTGCTAATAGCTCTCAACAGGCTGCTGGATTAAAGCCAATGCATTAAA... | GTGCTGGGCACTCTTGAAACTCTTTTGGGAAAAAATAAGATCTCTTAGGAAAGCCCAGAAGGTCAGGCAAACCTGGGTTCCAAGCTCAGCGCCAGCCCCCGCAGTCTGTGTGACCTTGGATTGATTACCCAGCCTCTCTGGGTCTCGCTTCTGCATCTGGAGAATGTGGCGATTCGTACCTATGTTATGTGGTCCTTGTGAGGATTAAATGTAATAATGCACATACAACACTTAGCACGGTGCCTGGCATACAGTAAGTGGGCAATCAATAAGTGCTAATAGCTCTCAACAGGCTGCTGGATTAAAGCCAATGCATTAAA... |
Task1_train_15373 | An alteration has been detected in ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Familial hyperinsulinism | GTGCTGGGCACTCTTGAAACTCTTTTGGGAAAAAATAAGATCTCTTAGGAAAGCCCAGAAGGTCAGGCAAACCTGGGTTCCAAGCTCAGCGCCAGCCCCCGCAGTCTGTGTGACCTTGGATTGATTACCCAGCCTCTCTGGGTCTCGCTTCTGCATCTGGAGAATGTGGCGATTCGTACCTATGTTATGTGGTCCTTGTGAGGATTAAATGTAATAATGCACATACAACACTTAGCACGGTGCCTGGCATACAGTAAGTGGGCAATCAATAAGTGCTAATAGCTCTCAACAGGCTGCTGGATTAAAGCCAATGCATTAAA... | GTGCTGGGCACTCTTGAAACTCTTTTGGGAAAAAATAAGATCTCTTAGGAAAGCCCAGAAGGTCAGGCAAACCTGGGTTCCAAGCTCAGCGCCAGCCCCCGCAGTCTGTGTGACCTTGGATTGATTACCCAGCCTCTCTGGGTCTCGCTTCTGCATCTGGAGAATGTGGCGATTCGTACCTATGTTATGTGGTCCTTGTGAGGATTAAATGTAATAATGCACATACAACACTTAGCACGGTGCCTGGCATACAGTAAGTGGGCAATCAATAAGTGCTAATAGCTCTCAACAGGCTGCTGGATTAAAGCCAATGCATTAAA... |
Task1_train_15374 | This variant affects the gene ABCC8 (ATP binding cassette subfamily C member 8) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Type 2 diabetes mellitus | GTGCTGGGCACTCTTGAAACTCTTTTGGGAAAAAATAAGATCTCTTAGGAAAGCCCAGAAGGTCAGGCAAACCTGGGTTCCAAGCTCAGCGCCAGCCCCCGCAGTCTGTGTGACCTTGGATTGATTACCCAGCCTCTCTGGGTCTCGCTTCTGCATCTGGAGAATGTGGCGATTCGTACCTATGTTATGTGGTCCTTGTGAGGATTAAATGTAATAATGCACATACAACACTTAGCACGGTGCCTGGCATACAGTAAGTGGGCAATCAATAAGTGCTAATAGCTCTCAACAGGCTGCTGGATTAAAGCCAATGCATTAAA... | GTGCTGGGCACTCTTGAAACTCTTTTGGGAAAAAATAAGATCTCTTAGGAAAGCCCAGAAGGTCAGGCAAACCTGGGTTCCAAGCTCAGCGCCAGCCCCCGCAGTCTGTGTGACCTTGGATTGATTACCCAGCCTCTCTGGGTCTCGCTTCTGCATCTGGAGAATGTGGCGATTCGTACCTATGTTATGTGGTCCTTGTGAGGATTAAATGTAATAATGCACATACAACACTTAGCACGGTGCCTGGCATACAGTAAGTGGGCAATCAATAAGTGCTAATAGCTCTCAACAGGCTGCTGGATTAAAGCCAATGCATTAAA... |
Task1_train_15375 | Located on Chromosome 11, this mutation impacts ABCC8 (ATP binding cassette subfamily C member 8). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hyperinsulinemic hypoglycemia, familial, 1 | GTGCTGGGCACTCTTGAAACTCTTTTGGGAAAAAATAAGATCTCTTAGGAAAGCCCAGAAGGTCAGGCAAACCTGGGTTCCAAGCTCAGCGCCAGCCCCCGCAGTCTGTGTGACCTTGGATTGATTACCCAGCCTCTCTGGGTCTCGCTTCTGCATCTGGAGAATGTGGCGATTCGTACCTATGTTATGTGGTCCTTGTGAGGATTAAATGTAATAATGCACATACAACACTTAGCACGGTGCCTGGCATACAGTAAGTGGGCAATCAATAAGTGCTAATAGCTCTCAACAGGCTGCTGGATTAAAGCCAATGCATTAAA... | GTGCTGGGCACTCTTGAAACTCTTTTGGGAAAAAATAAGATCTCTTAGGAAAGCCCAGAAGGTCAGGCAAACCTGGGTTCCAAGCTCAGCGCCAGCCCCCGCAGTCTGTGTGACCTTGGATTGATTACCCAGCCTCTCTGGGTCTCGCTTCTGCATCTGGAGAATGTGGCGATTCGTACCTATGTTATGTGGTCCTTGTGAGGATTAAATGTAATAATGCACATACAACACTTAGCACGGTGCCTGGCATACAGTAAGTGGGCAATCAATAAGTGCTAATAGCTCTCAACAGGCTGCTGGATTAAAGCCAATGCATTAAA... |
Task1_train_15376 | The variant affects gene ABCC8, LOC110121471 (ATP binding cassette subfamily C member 8| VISTA enhancer hs1977), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Diabetes mellitus, transient neonatal, 2 | GTTTACTGAAATAAAATGTCCACTTCACTTTTCTCTAGCAGGGTTGTTTAAATCTCATGAGAGATCGCGAATGCACCCATGCTTTGTAAAACGCTGTGTGTGTGTCAGACGGTAACGGAGACTGAATCTTCCCACTGTGAAGTGTCTTTAGTAAAGGAGTGCTTGTGCGTGTGGTGTAGGGAGAGGGGAGGGAATAAAGCTGGAATCAGAGACTTGAGCTTCCTTCTTCCAACTCACTGTGCAAATGGCCTCCCTCTTTCCTTCTGTTTAATTGACTCTCCCTTTGAGGCTCTCCTCCAGGAAGCCCTCCCTGATTACTC... | GTTTACTGAAATAAAATGTCCACTTCACTTTTCTCTAGCAGGGTTGTTTAAATCTCATGAGAGATCGCGAATGCACCCATGCTTTGTAAAACGCTGTGTGTGTGTCAGACGGTAACGGAGACTGAATCTTCCCACTGTGAAGTGTCTTTAGTAAAGGAGTGCTTGTGCGTGTGGTGTAGGGAGAGGGGAGGGAATAAAGCTGGAATCAGAGACTTGAGCTTCCTTCTTCCAACTCACTGTGCAAATGGCCTCCCTCTTTCCTTCTGTTTAATTGACTCTCCCTTTGAGGCTCTCCTCCAGGAAGCCCTCCCTGATTACTC... |
Task1_train_15377 | A genetic alteration is present in ABCC8, LOC110121471 (ATP binding cassette subfamily C member 8| VISTA enhancer hs1977) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hyperinsulinemic hypoglycemia, familial, 1 | GTTTACTGAAATAAAATGTCCACTTCACTTTTCTCTAGCAGGGTTGTTTAAATCTCATGAGAGATCGCGAATGCACCCATGCTTTGTAAAACGCTGTGTGTGTGTCAGACGGTAACGGAGACTGAATCTTCCCACTGTGAAGTGTCTTTAGTAAAGGAGTGCTTGTGCGTGTGGTGTAGGGAGAGGGGAGGGAATAAAGCTGGAATCAGAGACTTGAGCTTCCTTCTTCCAACTCACTGTGCAAATGGCCTCCCTCTTTCCTTCTGTTTAATTGACTCTCCCTTTGAGGCTCTCCTCCAGGAAGCCCTCCCTGATTACTC... | GTTTACTGAAATAAAATGTCCACTTCACTTTTCTCTAGCAGGGTTGTTTAAATCTCATGAGAGATCGCGAATGCACCCATGCTTTGTAAAACGCTGTGTGTGTGTCAGACGGTAACGGAGACTGAATCTTCCCACTGTGAAGTGTCTTTAGTAAAGGAGTGCTTGTGCGTGTGGTGTAGGGAGAGGGGAGGGAATAAAGCTGGAATCAGAGACTTGAGCTTCCTTCTTCCAACTCACTGTGCAAATGGCCTCCCTCTTTCCTTCTGTTTAATTGACTCTCCCTTTGAGGCTCTCCTCCAGGAAGCCCTCCCTGATTACTC... |
Task1_train_15378 | Consider a variant on Chromosome 11 in gene ABCC8, LOC110121471 (ATP binding cassette subfamily C member 8| VISTA enhancer hs1977). Determine its clinical classification and disease relevance. | Pathogenic; Leucine-induced hypoglycemia | GTTTACTGAAATAAAATGTCCACTTCACTTTTCTCTAGCAGGGTTGTTTAAATCTCATGAGAGATCGCGAATGCACCCATGCTTTGTAAAACGCTGTGTGTGTGTCAGACGGTAACGGAGACTGAATCTTCCCACTGTGAAGTGTCTTTAGTAAAGGAGTGCTTGTGCGTGTGGTGTAGGGAGAGGGGAGGGAATAAAGCTGGAATCAGAGACTTGAGCTTCCTTCTTCCAACTCACTGTGCAAATGGCCTCCCTCTTTCCTTCTGTTTAATTGACTCTCCCTTTGAGGCTCTCCTCCAGGAAGCCCTCCCTGATTACTC... | GTTTACTGAAATAAAATGTCCACTTCACTTTTCTCTAGCAGGGTTGTTTAAATCTCATGAGAGATCGCGAATGCACCCATGCTTTGTAAAACGCTGTGTGTGTGTCAGACGGTAACGGAGACTGAATCTTCCCACTGTGAAGTGTCTTTAGTAAAGGAGTGCTTGTGCGTGTGGTGTAGGGAGAGGGGAGGGAATAAAGCTGGAATCAGAGACTTGAGCTTCCTTCTTCCAACTCACTGTGCAAATGGCCTCCCTCTTTCCTTCTGTTTAATTGACTCTCCCTTTGAGGCTCTCCTCCAGGAAGCCCTCCCTGATTACTC... |
Task1_train_15379 | Mutation context: Chromosome 11, Gene ABCC8, LOC110121471 (ATP binding cassette subfamily C member 8| VISTA enhancer hs1977). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Diabetes mellitus, permanent neonatal 3 | GTTTACTGAAATAAAATGTCCACTTCACTTTTCTCTAGCAGGGTTGTTTAAATCTCATGAGAGATCGCGAATGCACCCATGCTTTGTAAAACGCTGTGTGTGTGTCAGACGGTAACGGAGACTGAATCTTCCCACTGTGAAGTGTCTTTAGTAAAGGAGTGCTTGTGCGTGTGGTGTAGGGAGAGGGGAGGGAATAAAGCTGGAATCAGAGACTTGAGCTTCCTTCTTCCAACTCACTGTGCAAATGGCCTCCCTCTTTCCTTCTGTTTAATTGACTCTCCCTTTGAGGCTCTCCTCCAGGAAGCCCTCCCTGATTACTC... | GTTTACTGAAATAAAATGTCCACTTCACTTTTCTCTAGCAGGGTTGTTTAAATCTCATGAGAGATCGCGAATGCACCCATGCTTTGTAAAACGCTGTGTGTGTGTCAGACGGTAACGGAGACTGAATCTTCCCACTGTGAAGTGTCTTTAGTAAAGGAGTGCTTGTGCGTGTGGTGTAGGGAGAGGGGAGGGAATAAAGCTGGAATCAGAGACTTGAGCTTCCTTCTTCCAACTCACTGTGCAAATGGCCTCCCTCTTTCCTTCTGTTTAATTGACTCTCCCTTTGAGGCTCTCCTCCAGGAAGCCCTCCCTGATTACTC... |
Task1_train_15380 | A mutation on Chromosome 11 affecting ABCC8, LOC110121471 (ATP binding cassette subfamily C member 8| VISTA enhancer hs1977) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Type 2 diabetes mellitus | GTTTACTGAAATAAAATGTCCACTTCACTTTTCTCTAGCAGGGTTGTTTAAATCTCATGAGAGATCGCGAATGCACCCATGCTTTGTAAAACGCTGTGTGTGTGTCAGACGGTAACGGAGACTGAATCTTCCCACTGTGAAGTGTCTTTAGTAAAGGAGTGCTTGTGCGTGTGGTGTAGGGAGAGGGGAGGGAATAAAGCTGGAATCAGAGACTTGAGCTTCCTTCTTCCAACTCACTGTGCAAATGGCCTCCCTCTTTCCTTCTGTTTAATTGACTCTCCCTTTGAGGCTCTCCTCCAGGAAGCCCTCCCTGATTACTC... | GTTTACTGAAATAAAATGTCCACTTCACTTTTCTCTAGCAGGGTTGTTTAAATCTCATGAGAGATCGCGAATGCACCCATGCTTTGTAAAACGCTGTGTGTGTGTCAGACGGTAACGGAGACTGAATCTTCCCACTGTGAAGTGTCTTTAGTAAAGGAGTGCTTGTGCGTGTGGTGTAGGGAGAGGGGAGGGAATAAAGCTGGAATCAGAGACTTGAGCTTCCTTCTTCCAACTCACTGTGCAAATGGCCTCCCTCTTTCCTTCTGTTTAATTGACTCTCCCTTTGAGGCTCTCCTCCAGGAAGCCCTCCCTGATTACTC... |
Task1_train_15381 | The gene ABCC8, LOC110121471 (ATP binding cassette subfamily C member 8| VISTA enhancer hs1977), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Permanent neonatal diabetes mellitus | GTTTACTGAAATAAAATGTCCACTTCACTTTTCTCTAGCAGGGTTGTTTAAATCTCATGAGAGATCGCGAATGCACCCATGCTTTGTAAAACGCTGTGTGTGTGTCAGACGGTAACGGAGACTGAATCTTCCCACTGTGAAGTGTCTTTAGTAAAGGAGTGCTTGTGCGTGTGGTGTAGGGAGAGGGGAGGGAATAAAGCTGGAATCAGAGACTTGAGCTTCCTTCTTCCAACTCACTGTGCAAATGGCCTCCCTCTTTCCTTCTGTTTAATTGACTCTCCCTTTGAGGCTCTCCTCCAGGAAGCCCTCCCTGATTACTC... | GTTTACTGAAATAAAATGTCCACTTCACTTTTCTCTAGCAGGGTTGTTTAAATCTCATGAGAGATCGCGAATGCACCCATGCTTTGTAAAACGCTGTGTGTGTGTCAGACGGTAACGGAGACTGAATCTTCCCACTGTGAAGTGTCTTTAGTAAAGGAGTGCTTGTGCGTGTGGTGTAGGGAGAGGGGAGGGAATAAAGCTGGAATCAGAGACTTGAGCTTCCTTCTTCCAACTCACTGTGCAAATGGCCTCCCTCTTTCCTTCTGTTTAATTGACTCTCCCTTTGAGGCTCTCCTCCAGGAAGCCCTCCCTGATTACTC... |
Task1_train_15382 | With a mutation on Chromosome 11 in gene ABCC8 (ATP binding cassette subfamily C member 8), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Hyperinsulinemic hypoglycemia, familial, 1 | TCCTCCCTCCAAAGGCTGGAGAGGCAGTCGGAATAAGGCAATATGATCTCAAACCGAATACCTGGGCCTTCCCAGTCAGGCTATGTTGAAAAATCTCCCAAATAAAATGGCGAATGGAGGCAAAGACCCCTCTGCCCCCAAAGACATCACAGTCCCTGATGGGAGGTGATGGGAAACCCAAGGGGCTCATCTGCTAGCCCACGACCCCACTGAGGAGGGAAATTTGCCATCTTTTGGATACACCATTCAGGGACATCTTGGAAATGCAGGAAACGGGGGTGCATGTTGATATTCAGACATTGGGCCCAAAGTCTTTCTCC... | TCCTCCCTCCAAAGGCTGGAGAGGCAGTCGGAATAAGGCAATATGATCTCAAACCGAATACCTGGGCCTTCCCAGTCAGGCTATGTTGAAAAATCTCCCAAATAAAATGGCGAATGGAGGCAAAGACCCCTCTGCCCCCAAAGACATCACAGTCCCTGATGGGAGGTGATGGGAAACCCAAGGGGCTCATCTGCTAGCCCACGACCCCACTGAGGAGGGAAATTTGCCATCTTTTGGATACACCATTCAGGGACATCTTGGAAATGCAGGAAACGGGGGTGCATGTTGATATTCAGACATTGGGCCCAAAGTCTTTCTCC... |
Task1_train_15383 | A change on Chromosome 11 affects gene ABCC8 (ATP binding cassette subfamily C member 8). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not provided | CCAGTGGGCATGGGGGCAGGTAATTGGTGTTACCAGGGTTTGCTAGGGTTGACCAGTCAGCTGGAATAGGCTGGGGTCTGGATTGGAGGTGAGATTGGTTAGTTTTAGGGTTAATGTTGAAGTTAGTTAGTCTGGGTTATTAGACTGAAGGATGGTTGGTGTTGGATTGGTCAGGGTTAAGGTTAGTTAGGACTAGGATTGGTAAAGAATCAATAGCTAGTATTTTGTGAGCATACACTAAATGCCAGACACTGTGTTAACTGTTTTGTAGCATTATGTAATCGGATCCCCATAACAGCCTGCTGGAGGAGGTGTCATTA... | CCAGTGGGCATGGGGGCAGGTAATTGGTGTTACCAGGGTTTGCTAGGGTTGACCAGTCAGCTGGAATAGGCTGGGGTCTGGATTGGAGGTGAGATTGGTTAGTTTTAGGGTTAATGTTGAAGTTAGTTAGTCTGGGTTATTAGACTGAAGGATGGTTGGTGTTGGATTGGTCAGGGTTAAGGTTAGTTAGGACTAGGATTGGTAAAGAATCAATAGCTAGTATTTTGTGAGCATACACTAAATGCCAGACACTGTGTTAACTGTTTTGTAGCATTATGTAATCGGATCCCCATAACAGCCTGCTGGAGGAGGTGTCATTA... |
Task1_train_15384 | Consider a variant on Chromosome 11 in gene ABCC8 (ATP binding cassette subfamily C member 8). Determine its clinical classification and disease relevance. | Pathogenic; Type 2 diabetes mellitus | TTACCAGGGTTTGCTAGGGTTGACCAGTCAGCTGGAATAGGCTGGGGTCTGGATTGGAGGTGAGATTGGTTAGTTTTAGGGTTAATGTTGAAGTTAGTTAGTCTGGGTTATTAGACTGAAGGATGGTTGGTGTTGGATTGGTCAGGGTTAAGGTTAGTTAGGACTAGGATTGGTAAAGAATCAATAGCTAGTATTTTGTGAGCATACACTAAATGCCAGACACTGTGTTAACTGTTTTGTAGCATTATGTAATCGGATCCCCATAACAGCCTGCTGGAGGAGGTGTCATTACTCACGGGGGAGGCGGCTATTCCTACCCT... | TTACCAGGGTTTGCTAGGGTTGACCAGTCAGCTGGAATAGGCTGGGGTCTGGATTGGAGGTGAGATTGGTTAGTTTTAGGGTTAATGTTGAAGTTAGTTAGTCTGGGTTATTAGACTGAAGGATGGTTGGTGTTGGATTGGTCAGGGTTAAGGTTAGTTAGGACTAGGATTGGTAAAGAATCAATAGCTAGTATTTTGTGAGCATACACTAAATGCCAGACACTGTGTTAACTGTTTTGTAGCATTATGTAATCGGATCCCCATAACAGCCTGCTGGAGGAGGTGTCATTACTCACGGGGGAGGCGGCTATTCCTACCCT... |
Task1_train_15385 | This variant affects gene ABCC8 (ATP binding cassette subfamily C member 8) located on Chromosome 11. Evaluate its biological effect and specify any disease association. | Pathogenic; Diabetes mellitus, transient neonatal, 2 | TTACCAGGGTTTGCTAGGGTTGACCAGTCAGCTGGAATAGGCTGGGGTCTGGATTGGAGGTGAGATTGGTTAGTTTTAGGGTTAATGTTGAAGTTAGTTAGTCTGGGTTATTAGACTGAAGGATGGTTGGTGTTGGATTGGTCAGGGTTAAGGTTAGTTAGGACTAGGATTGGTAAAGAATCAATAGCTAGTATTTTGTGAGCATACACTAAATGCCAGACACTGTGTTAACTGTTTTGTAGCATTATGTAATCGGATCCCCATAACAGCCTGCTGGAGGAGGTGTCATTACTCACGGGGGAGGCGGCTATTCCTACCCT... | TTACCAGGGTTTGCTAGGGTTGACCAGTCAGCTGGAATAGGCTGGGGTCTGGATTGGAGGTGAGATTGGTTAGTTTTAGGGTTAATGTTGAAGTTAGTTAGTCTGGGTTATTAGACTGAAGGATGGTTGGTGTTGGATTGGTCAGGGTTAAGGTTAGTTAGGACTAGGATTGGTAAAGAATCAATAGCTAGTATTTTGTGAGCATACACTAAATGCCAGACACTGTGTTAACTGTTTTGTAGCATTATGTAATCGGATCCCCATAACAGCCTGCTGGAGGAGGTGTCATTACTCACGGGGGAGGCGGCTATTCCTACCCT... |
Task1_train_15386 | A variant was discovered in gene ABCC8 (ATP binding cassette subfamily C member 8), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Diabetes mellitus, permanent neonatal 3 | ATTAAAAAACCATTTTTGGCTCTTTTGGCATAATTGGAAAATGTAATTTATGACATACACACATTAGTATATTTAATTACAAAACTGCCCAACCACAAAAGTGGCTGTTGCTTGTGGTGGTGCAAGTCTGCCTGTCACTGGAGGGGTGTGAGGAGAGGCTGGGATTTCTAGAGAAGTTTTCTGAACTGAGCAACAGCTTGGTTCCTCCCAGCTCTGGGCCCCCATGAGTCTTAGAAGGTCTTAGATTTTCCTGGGCTTTTTCCACTATTGTCACATAATGACATCCCTGAGGAAATACTCTGCTTTCCCAGTGAGAAACC... | ATTAAAAAACCATTTTTGGCTCTTTTGGCATAATTGGAAAATGTAATTTATGACATACACACATTAGTATATTTAATTACAAAACTGCCCAACCACAAAAGTGGCTGTTGCTTGTGGTGGTGCAAGTCTGCCTGTCACTGGAGGGGTGTGAGGAGAGGCTGGGATTTCTAGAGAAGTTTTCTGAACTGAGCAACAGCTTGGTTCCTCCCAGCTCTGGGCCCCCATGAGTCTTAGAAGGTCTTAGATTTTCCTGGGCTTTTTCCACTATTGTCACATAATGACATCCCTGAGGAAATACTCTGCTTTCCCAGTGAGAAACC... |
Task1_train_15387 | A variant was discovered on Chromosome 11, affecting ABCC8 (ATP binding cassette subfamily C member 8). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Inborn genetic diseases | GGTGTGGACACTCTGATAAGGGCTCTGGCCTGTGCCATTTCCCCCTGATATTAACAACTGGCTCCATGCTGCTTCAGGATCGCCAATGGGGGTATTCTGGGGTAGCCTATGGTCAGGCTAGAGCCAAAGGTGACACTCCTGTAGACAAGAGAAGCAGCCGCTTCCCCTCTCTTTTATGGGCCAGGTAAAGTAGAGAGGCTCAAAAAGCCAGATATGGCTTCAAAAGCCATCAAAGTTTAAATAAGCAAAAGTGGTCCTTGCATTCTTGGTTGAGCAAGAAATCTTCCCATGGCAGCCTGGCAAATTCCTACTCATCCGTC... | GGTGTGGACACTCTGATAAGGGCTCTGGCCTGTGCCATTTCCCCCTGATATTAACAACTGGCTCCATGCTGCTTCAGGATCGCCAATGGGGGTATTCTGGGGTAGCCTATGGTCAGGCTAGAGCCAAAGGTGACACTCCTGTAGACAAGAGAAGCAGCCGCTTCCCCTCTCTTTTATGGGCCAGGTAAAGTAGAGAGGCTCAAAAAGCCAGATATGGCTTCAAAAGCCATCAAAGTTTAAATAAGCAAAAGTGGTCCTTGCATTCTTGGTTGAGCAAGAAATCTTCCCATGGCAGCCTGGCAAATTCCTACTCATCCGTC... |
Task1_train_15388 | A variant has been detected on Chromosome 11 in ABCC8 (ATP binding cassette subfamily C member 8). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Diabetes mellitus, permanent neonatal 3 | GGCTGCAAGGAAACAGACAACAGAGCACAGTCTGCCCAGCCCCCGAAGTGGATGCTACGGCCCCACGCAGGGCAAATAACCCCGGGGAAAGGTTTTCTAGCTCCAACAAATTTCAGTTTGCAGAATCGTTACAACTGCCAAGGCCATTGGATATAATCTAGTCTAATAAGTCTCCAGTGTTTTTTAAGCCATGGAAACTTTTCTTAAAAAAGAAATTTTAATGGAAAAGTCCAACATATTAATAAAACTACGGGCAGCTTTGAATGAAATTTGGAGTGGGGAGAGACAAAGCTCCACTCGTGAGGGTTTCCCACTTCTCT... | GGCTGCAAGGAAACAGACAACAGAGCACAGTCTGCCCAGCCCCCGAAGTGGATGCTACGGCCCCACGCAGGGCAAATAACCCCGGGGAAAGGTTTTCTAGCTCCAACAAATTTCAGTTTGCAGAATCGTTACAACTGCCAAGGCCATTGGATATAATCTAGTCTAATAAGTCTCCAGTGTTTTTTAAGCCATGGAAACTTTTCTTAAAAAAGAAATTTTAATGGAAAAGTCCAACATATTAATAAAACTACGGGCAGCTTTGAATGAAATTTGGAGTGGGGAGAGACAAAGCTCCACTCGTGAGGGTTTCCCACTTCTCT... |
Task1_train_15389 | A mutation found in ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Hyperinsulinemic hypoglycemia, familial, 1 | GCCCTGCACCTGTCCCTGGTTCACTGTGTGACTTAAGGCAAGCTTCTTCCCCTCACCAGCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGG... | GCCCTGCACCTGTCCCTGGTTCACTGTGTGACTTAAGGCAAGCTTCTTCCCCTCACCAGCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGG... |
Task1_train_15390 | This variant affects gene ABCC8 (ATP binding cassette subfamily C member 8) located on Chromosome 11. Evaluate its biological effect and specify any disease association. | Pathogenic; Diabetes mellitus, permanent neonatal 3 | GCCCTGCACCTGTCCCTGGTTCACTGTGTGACTTAAGGCAAGCTTCTTCCCCTCACCAGCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGG... | GCCCTGCACCTGTCCCTGGTTCACTGTGTGACTTAAGGCAAGCTTCTTCCCCTCACCAGCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGG... |
Task1_train_15391 | This is a variant in ABCC8 (ATP binding cassette subfamily C member 8), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; Type 2 diabetes mellitus | GCCCTGCACCTGTCCCTGGTTCACTGTGTGACTTAAGGCAAGCTTCTTCCCCTCACCAGCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGG... | GCCCTGCACCTGTCCCTGGTTCACTGTGTGACTTAAGGCAAGCTTCTTCCCCTCACCAGCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGG... |
Task1_train_15392 | Chromosome 11 houses a mutation in gene ABCC8 (ATP binding cassette subfamily C member 8). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Leucine-induced hypoglycemia | GCCCTGCACCTGTCCCTGGTTCACTGTGTGACTTAAGGCAAGCTTCTTCCCCTCACCAGCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGG... | GCCCTGCACCTGTCCCTGGTTCACTGTGTGACTTAAGGCAAGCTTCTTCCCCTCACCAGCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGG... |
Task1_train_15393 | Gene ABCC8 (ATP binding cassette subfamily C member 8), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Hyperinsulinemic hypoglycemia, familial, 1 | GCCCTGCACCTGTCCCTGGTTCACTGTGTGACTTAAGGCAAGCTTCTTCCCCTCACCAGCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGG... | GCCCTGCACCTGTCCCTGGTTCACTGTGTGACTTAAGGCAAGCTTCTTCCCCTCACCAGCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGG... |
Task1_train_15394 | Consider this mutation in ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; Diabetes mellitus, transient neonatal, 2 | GCCCTGCACCTGTCCCTGGTTCACTGTGTGACTTAAGGCAAGCTTCTTCCCCTCACCAGCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGG... | GCCCTGCACCTGTCCCTGGTTCACTGTGTGACTTAAGGCAAGCTTCTTCCCCTCACCAGCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGG... |
Task1_train_15395 | The gene ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Type 2 diabetes mellitus | GCCCTGCACCTGTCCCTGGTTCACTGTGTGACTTAAGGCAAGCTTCTTCCCCTCACCAGCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGG... | GCCCTGCACCTGTCCCTGGTTCACTGTGTGACTTAAGGCAAGCTTCTTCCCCTCACCAGCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGG... |
Task1_train_15396 | A sequence alteration has been identified in ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11. Is it disease-inducing or harmless? | Pathogenic; Familial hyperinsulinism | GCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGGACAGCAGATTCACGAAGGGCTGCAGGAAGCGTACCCCCAGGTCTTGCAGGTCCTCGGG... | GCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGGACAGCAGATTCACGAAGGGCTGCAGGAAGCGTACCCCCAGGTCTTGCAGGTCCTCGGG... |
Task1_train_15397 | Mutation context: Chromosome 11, Gene ABCC8 (ATP binding cassette subfamily C member 8). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Hyperinsulinemic hypoglycemia, familial, 1 | GCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGGACAGCAGATTCACGAAGGGCTGCAGGAAGCGTACCCCCAGGTCTTGCAGGTCCTCGGG... | GCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGGACAGCAGATTCACGAAGGGCTGCAGGAAGCGTACCCCCAGGTCTTGCAGGTCCTCGGG... |
Task1_train_15398 | A change on Chromosome 11 affects gene ABCC8 (ATP binding cassette subfamily C member 8). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Diabetes mellitus, transient neonatal, 2 | GCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGGACAGCAGATTCACGAAGGGCTGCAGGAAGCGTACCCCCAGGTCTTGCAGGTCCTCGGG... | GCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGGACAGCAGATTCACGAAGGGCTGCAGGAAGCGTACCCCCAGGTCTTGCAGGTCCTCGGG... |
Task1_train_15399 | This mutation is located in gene ABCC8 (ATP binding cassette subfamily C member 8) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hyperinsulinemic hypoglycemia, familial, 1 | GCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGGACAGCAGATTCACGAAGGGCTGCAGGAAGCGTACCCCCAGGTCTTGCAGGTCCTCGGG... | GCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGGACAGCAGATTCACGAAGGGCTGCAGGAAGCGTACCCCCAGGTCTTGCAGGTCCTCGGG... |
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