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_6200 | Consider a variant on Chromosome 3 in gene RAF1 (Raf-1 proto-oncogene, serine/threonine kinase). Determine its clinical classification and disease relevance. | Pathogenic; RASopathy | TAATTTCTATAGTTGGATCAATTTATTCTAGAAAGAATTTTCCTATTGTTCCTGGAGTCTAAATACTCAAGAGAACTATGAATAATTTGAGACCCACAAATAATTTGAATAAAGCAACAATTAGTCTACTTTAAAAATGCTGACTTATATGTGATTAAATTAACAGGAATCAAAATTTACCCTGCTTCTAAAGTAAAAAATGATTAGGCACAACAATTGTGCTAATTCTTTTATAATAAAAACTCAAAAATTCTTACTTGACACAATCATACACAGCTCACTACAACCTCAAACTCCTGGGCTCAAGTAATCCTCCTGCC... | TAATTTCTATAGTTGGATCAATTTATTCTAGAAAGAATTTTCCTATTGTTCCTGGAGTCTAAATACTCAAGAGAACTATGAATAATTTGAGACCCACAAATAATTTGAATAAAGCAACAATTAGTCTACTTTAAAAATGCTGACTTATATGTGATTAAATTAACAGGAATCAAAATTTACCCTGCTTCTAAAGTAAAAAATGATTAGGCACAACAATTGTGCTAATTCTTTTATAATAAAAACTCAAAAATTCTTACTTGACACAATCATACACAGCTCACTACAACCTCAAACTCCTGGGCTCAAGTAATCCTCCTGCC... |
Task1_train_6201 | A variant affecting Chromosome 3, within the gene RAF1 (Raf-1 proto-oncogene, serine/threonine kinase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Noonan syndrome | TCTATAGTTGGATCAATTTATTCTAGAAAGAATTTTCCTATTGTTCCTGGAGTCTAAATACTCAAGAGAACTATGAATAATTTGAGACCCACAAATAATTTGAATAAAGCAACAATTAGTCTACTTTAAAAATGCTGACTTATATGTGATTAAATTAACAGGAATCAAAATTTACCCTGCTTCTAAAGTAAAAAATGATTAGGCACAACAATTGTGCTAATTCTTTTATAATAAAAACTCAAAAATTCTTACTTGACACAATCATACACAGCTCACTACAACCTCAAACTCCTGGGCTCAAGTAATCCTCCTGCCCAAGC... | TCTATAGTTGGATCAATTTATTCTAGAAAGAATTTTCCTATTGTTCCTGGAGTCTAAATACTCAAGAGAACTATGAATAATTTGAGACCCACAAATAATTTGAATAAAGCAACAATTAGTCTACTTTAAAAATGCTGACTTATATGTGATTAAATTAACAGGAATCAAAATTTACCCTGCTTCTAAAGTAAAAAATGATTAGGCACAACAATTGTGCTAATTCTTTTATAATAAAAACTCAAAAATTCTTACTTGACACAATCATACACAGCTCACTACAACCTCAAACTCCTGGGCTCAAGTAATCCTCCTGCCCAAGC... |
Task1_train_6202 | A change on Chromosome 3 affects gene RAF1 (Raf-1 proto-oncogene, serine/threonine kinase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; RASopathy | TATAGTTGGATCAATTTATTCTAGAAAGAATTTTCCTATTGTTCCTGGAGTCTAAATACTCAAGAGAACTATGAATAATTTGAGACCCACAAATAATTTGAATAAAGCAACAATTAGTCTACTTTAAAAATGCTGACTTATATGTGATTAAATTAACAGGAATCAAAATTTACCCTGCTTCTAAAGTAAAAAATGATTAGGCACAACAATTGTGCTAATTCTTTTATAATAAAAACTCAAAAATTCTTACTTGACACAATCATACACAGCTCACTACAACCTCAAACTCCTGGGCTCAAGTAATCCTCCTGCCCAAGCCT... | TATAGTTGGATCAATTTATTCTAGAAAGAATTTTCCTATTGTTCCTGGAGTCTAAATACTCAAGAGAACTATGAATAATTTGAGACCCACAAATAATTTGAATAAAGCAACAATTAGTCTACTTTAAAAATGCTGACTTATATGTGATTAAATTAACAGGAATCAAAATTTACCCTGCTTCTAAAGTAAAAAATGATTAGGCACAACAATTGTGCTAATTCTTTTATAATAAAAACTCAAAAATTCTTACTTGACACAATCATACACAGCTCACTACAACCTCAAACTCCTGGGCTCAAGTAATCCTCCTGCCCAAGCCT... |
Task1_train_6203 | This alteration in IQSEC1 (IQ motif and Sec7 domain ArfGEF 1) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Intellectual developmental disorder with short stature and behavioral abnormalities | TTCCTGTCTCCCCACTGCTGGCCTCCACCTGTCCACTCTGCAGGGACCCCTGGTTATCCCAGCCTCCCCTCTAGGGCACATGGGCCTGGGTCGAGAGATGATCCTGGAGCTCGGCTGTGCCCAGGAGCAGTGGGGACAGACTTCAGGGACCGTGTCAGGTGGGCCAGCAGGATGCAACCCTCCCCTGTCCAGCGCATTGCTCCGGCCGTGGCCTGTGCAGCAGTGAGAGCAGCCGTACTCTGCAGCAAGCCACAGGCAGATCACAGGCTCAGGAGAGAGCATCCTGGTAGATGTGAGATGTCCAAGACTCTTTGTTCTTA... | TTCCTGTCTCCCCACTGCTGGCCTCCACCTGTCCACTCTGCAGGGACCCCTGGTTATCCCAGCCTCCCCTCTAGGGCACATGGGCCTGGGTCGAGAGATGATCCTGGAGCTCGGCTGTGCCCAGGAGCAGTGGGGACAGACTTCAGGGACCGTGTCAGGTGGGCCAGCAGGATGCAACCCTCCCCTGTCCAGCGCATTGCTCCGGCCGTGGCCTGTGCAGCAGTGAGAGCAGCCGTACTCTGCAGCAAGCCACAGGCAGATCACAGGCTCAGGAGAGAGCATCCTGGTAGATGTGAGATGTCCAAGACTCTTTGTTCTTA... |
Task1_train_6204 | This is a variant in IQSEC1 (IQ motif and Sec7 domain ArfGEF 1), located on Chromosome 3. Is this mutation a likely cause of disease or not? | Pathogenic; Intellectual developmental disorder with short stature and behavioral abnormalities | CCCTCTAGGGCACATGGGCCTGGGTCGAGAGATGATCCTGGAGCTCGGCTGTGCCCAGGAGCAGTGGGGACAGACTTCAGGGACCGTGTCAGGTGGGCCAGCAGGATGCAACCCTCCCCTGTCCAGCGCATTGCTCCGGCCGTGGCCTGTGCAGCAGTGAGAGCAGCCGTACTCTGCAGCAAGCCACAGGCAGATCACAGGCTCAGGAGAGAGCATCCTGGTAGATGTGAGATGTCCAAGACTCTTTGTTCTTAGCTGAGCAAACCAGTAAGCCATTGCCCCTTACTGGCCCCAAGTGAATGCACCATTCCCCAGAGGCT... | CCCTCTAGGGCACATGGGCCTGGGTCGAGAGATGATCCTGGAGCTCGGCTGTGCCCAGGAGCAGTGGGGACAGACTTCAGGGACCGTGTCAGGTGGGCCAGCAGGATGCAACCCTCCCCTGTCCAGCGCATTGCTCCGGCCGTGGCCTGTGCAGCAGTGAGAGCAGCCGTACTCTGCAGCAAGCCACAGGCAGATCACAGGCTCAGGAGAGAGCATCCTGGTAGATGTGAGATGTCCAAGACTCTTTGTTCTTAGCTGAGCAAACCAGTAAGCCATTGCCCCTTACTGGCCCCAAGTGAATGCACCATTCCCCAGAGGCT... |
Task1_train_6205 | This mutation is located in gene WNT7A (Wnt family member 7A) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Schinzel phocomelia syndrome | CCAGCAGGTGGGGCCATGGGGCTGTGCTGTGGTCTCAGAGGTGTCTGGTTTTCACCCATGGGTGTGGGGACAGAGTTCAGAGGTGCCTTCTCTTGGCGGTTCAACACAATCACACACAATCTCTGCTGTCTGCCTCATACCACCAGCCCTCACATGCAAGCAGAGACTCTGGGGAGCAGCAGATGCAAAGGCATGCAGCTCCATGCCTGAGACCTGATCTCCCAGGCACACGGAGAGAAACAGACGCTTGGGTAGCACGGAAACACACAGACACATACACACACGAGTACGGCGGAGGCGCTGCAAGGCGCAAAGTCACG... | CCAGCAGGTGGGGCCATGGGGCTGTGCTGTGGTCTCAGAGGTGTCTGGTTTTCACCCATGGGTGTGGGGACAGAGTTCAGAGGTGCCTTCTCTTGGCGGTTCAACACAATCACACACAATCTCTGCTGTCTGCCTCATACCACCAGCCCTCACATGCAAGCAGAGACTCTGGGGAGCAGCAGATGCAAAGGCATGCAGCTCCATGCCTGAGACCTGATCTCCCAGGCACACGGAGAGAAACAGACGCTTGGGTAGCACGGAAACACACAGACACATACACACACGAGTACGGCGGAGGCGCTGCAAGGCGCAAAGTCACG... |
Task1_train_6206 | Assess the clinical impact of this variant on gene WNT7A (Wnt family member 7A), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Schinzel phocomelia syndrome | GACCTGATCTCCCAGGCACACGGAGAGAAACAGACGCTTGGGTAGCACGGAAACACACAGACACATACACACACGAGTACGGCGGAGGCGCTGCAAGGCGCAAAGTCACGTGACTACACTCAAGTCCCTAAGAAGATACAGTACACACACACACACACACACACACACACACACACACACACACACACACCGGAAATGCAAACGGACACATATTAGAACACCCCCAGCCTGCTGGAGGACAGCTTTCTAGGCTGAGGCTCTGGGTGTAGCTGGACCCAAAGCAAAGTGGCCTCACTTGAACCTCTCTCTGCTGCTTGGCC... | GACCTGATCTCCCAGGCACACGGAGAGAAACAGACGCTTGGGTAGCACGGAAACACACAGACACATACACACACGAGTACGGCGGAGGCGCTGCAAGGCGCAAAGTCACGTGACTACACTCAAGTCCCTAAGAAGATACAGTACACACACACACACACACACACACACACACACACACACACACACACACCGGAAATGCAAACGGACACATATTAGAACACCCCCAGCCTGCTGGAGGACAGCTTTCTAGGCTGAGGCTCTGGGTGTAGCTGGACCCAAAGCAAAGTGGCCTCACTTGAACCTCTCTCTGCTGCTTGGCC... |
Task1_train_6207 | Gene LOC126806608, WNT7A (P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:13895244-13896443| Wnt family member 7A) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Fuhrmann syndrome | GAGTCCCCACAGGTCAGCTGGTACCCTCTCTGAGCCTCCATTTCCATCCCTGTAGCACAAAGGGGCGGGACGGGTGTGACTCAGCCCTTTCTCTGCATACACCGGGGAGTCCACAGTCCCACCTCTTGGCTCAGGAAATACATAGTGTCTGTAGAAGTGCTTTTCTAGAAAGCCATCCCCAAAGGTCCTCCCTAACCAGAGAGCACTGGGCAGGCAGGAGGATGTATGGCCCTCTACTGAGCTTTCCTGAGATGGGAGGGCTGTTCCTGCTCAAAAACATCAGGTCAGGCCTGGCCTGCACTCCACTCATACCCAGCTCC... | GAGTCCCCACAGGTCAGCTGGTACCCTCTCTGAGCCTCCATTTCCATCCCTGTAGCACAAAGGGGCGGGACGGGTGTGACTCAGCCCTTTCTCTGCATACACCGGGGAGTCCACAGTCCCACCTCTTGGCTCAGGAAATACATAGTGTCTGTAGAAGTGCTTTTCTAGAAAGCCATCCCCAAAGGTCCTCCCTAACCAGAGAGCACTGGGCAGGCAGGAGGATGTATGGCCCTCTACTGAGCTTTCCTGAGATGGGAGGGCTGTTCCTGCTCAAAAACATCAGGTCAGGCCTGGCCTGCACTCCACTCATACCCAGCTCC... |
Task1_train_6208 | This alteration in LOC126806608, WNT7A (P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:13895244-13896443| Wnt family member 7A) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Schinzel phocomelia syndrome | TACCCTCTCTGAGCCTCCATTTCCATCCCTGTAGCACAAAGGGGCGGGACGGGTGTGACTCAGCCCTTTCTCTGCATACACCGGGGAGTCCACAGTCCCACCTCTTGGCTCAGGAAATACATAGTGTCTGTAGAAGTGCTTTTCTAGAAAGCCATCCCCAAAGGTCCTCCCTAACCAGAGAGCACTGGGCAGGCAGGAGGATGTATGGCCCTCTACTGAGCTTTCCTGAGATGGGAGGGCTGTTCCTGCTCAAAAACATCAGGTCAGGCCTGGCCTGCACTCCACTCATACCCAGCTCCTGACCCCACTCAAAGTAGCCC... | TACCCTCTCTGAGCCTCCATTTCCATCCCTGTAGCACAAAGGGGCGGGACGGGTGTGACTCAGCCCTTTCTCTGCATACACCGGGGAGTCCACAGTCCCACCTCTTGGCTCAGGAAATACATAGTGTCTGTAGAAGTGCTTTTCTAGAAAGCCATCCCCAAAGGTCCTCCCTAACCAGAGAGCACTGGGCAGGCAGGAGGATGTATGGCCCTCTACTGAGCTTTCCTGAGATGGGAGGGCTGTTCCTGCTCAAAAACATCAGGTCAGGCCTGGCCTGCACTCCACTCATACCCAGCTCCTGACCCCACTCAAAGTAGCCC... |
Task1_train_6209 | Gene WNT7A (Wnt family member 7A) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Schinzel phocomelia syndrome | GAGCCCATGCCTGGGTCCCAGGAATTTTGTGTGTGTGTGTGTCTGTGTGTGTTATCTGAGTAGAAGAAAGCACAAAAACCACAAGCGACAAGCAAGGGGAGGCTCACAAGACAGATTAAGCAACCTAAACTGGAGTCTCAGTGTTGATGCCACTCACTATGTGACCCGGGACAGTCCCATTCTCTCTCTGGGCCTCTGTTTCCAACTAAAAAGTGAGCCCTGGGCTTGGGAAGAGGGAAAAGCAGGGCAGACGGTGCAAGGCAAAAGTCTACACAACAAAGACCCTGGAAAAGGTTTGCCTCTGGAAAGATCCTCTGCCA... | GAGCCCATGCCTGGGTCCCAGGAATTTTGTGTGTGTGTGTGTCTGTGTGTGTTATCTGAGTAGAAGAAAGCACAAAAACCACAAGCGACAAGCAAGGGGAGGCTCACAAGACAGATTAAGCAACCTAAACTGGAGTCTCAGTGTTGATGCCACTCACTATGTGACCCGGGACAGTCCCATTCTCTCTCTGGGCCTCTGTTTCCAACTAAAAAGTGAGCCCTGGGCTTGGGAAGAGGGAAAAGCAGGGCAGACGGTGCAAGGCAAAAGTCTACACAACAAAGACCCTGGAAAAGGTTTGCCTCTGGAAAGATCCTCTGCCA... |
Task1_train_6210 | This alteration occurs within gene TMEM43 (transmembrane protein 43) located on Chromosome 3. Is it associated with a disease or is it a benign variant? | Pathogenic; Arrhythmogenic right ventricular dysplasia 5 | GGAAGCTGTCAAGATACCCATCCACTGACGAATGATTCAGCACACTGTGGTATAGTCATAAATGGAATACTACTCAGCCATGAAAAGGAACAAATTCCTGATAAACACCACAACATGAATGAATTGCAAAAGCAGTGCTCTGAGTCCAAGAAGCTGGGCAGAAAGGAGTTGGTGCCCTGATTCCATTTTTCTCAAGTTGTAGAAGAAACAAACTAATCTACGGTAGGAGAAATTCAAATTCAGATTCTCCCCATCCCCACCAGTTACCTCTGGTTGGTGGAGAGGGGGAGAATTGGCAGGAAAGGGGCACAAAGAAACTT... | GGAAGCTGTCAAGATACCCATCCACTGACGAATGATTCAGCACACTGTGGTATAGTCATAAATGGAATACTACTCAGCCATGAAAAGGAACAAATTCCTGATAAACACCACAACATGAATGAATTGCAAAAGCAGTGCTCTGAGTCCAAGAAGCTGGGCAGAAAGGAGTTGGTGCCCTGATTCCATTTTTCTCAAGTTGTAGAAGAAACAAACTAATCTACGGTAGGAGAAATTCAAATTCAGATTCTCCCCATCCCCACCAGTTACCTCTGGTTGGTGGAGAGGGGGAGAATTGGCAGGAAAGGGGCACAAAGAAACTT... |
Task1_train_6211 | A mutation found in TMEM43 (transmembrane protein 43) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Familial isolated arrhythmogenic right ventricular dysplasia | GGAGCCTGCCAGACCTGCATTTGAAATCTGTCACGTCCAAGCTCTGGATGCTTGGCCGTTCCCTTCCCATCTCAGCTTCAGTCACCTCACCCCTTACATGCAGAGTTTTATGAAATGTGGCAAATAGGAAACACCCAAAACTCTCATGCTTCCTTCCTCACTCCAAAACCTGGGCTAGATTTGGGCAGCCAGCAAGTCTGGAGCATGAAGGAGAGTTCTGGGCCACTCCTTGACCTGAGGTTGGCACCAGTGAGCCCAGTAGGAGACCTGTGGCCCAGCGTGGTTCGGGATCTGAGTGCCCAGGGTGACTAAGTGCGTTC... | GGAGCCTGCCAGACCTGCATTTGAAATCTGTCACGTCCAAGCTCTGGATGCTTGGCCGTTCCCTTCCCATCTCAGCTTCAGTCACCTCACCCCTTACATGCAGAGTTTTATGAAATGTGGCAAATAGGAAACACCCAAAACTCTCATGCTTCCTTCCTCACTCCAAAACCTGGGCTAGATTTGGGCAGCCAGCAAGTCTGGAGCATGAAGGAGAGTTCTGGGCCACTCCTTGACCTGAGGTTGGCACCAGTGAGCCCAGTAGGAGACCTGTGGCCCAGCGTGGTTCGGGATCTGAGTGCCCAGGGTGACTAAGTGCGTTC... |
Task1_train_6212 | This gene mutation involves TMEM43 (transmembrane protein 43) on Chromosome 3. Is it associated with any clinical condition, or is it benign? | Pathogenic; Arrhythmogenic right ventricular cardiomyopathy | GGAGCCTGCCAGACCTGCATTTGAAATCTGTCACGTCCAAGCTCTGGATGCTTGGCCGTTCCCTTCCCATCTCAGCTTCAGTCACCTCACCCCTTACATGCAGAGTTTTATGAAATGTGGCAAATAGGAAACACCCAAAACTCTCATGCTTCCTTCCTCACTCCAAAACCTGGGCTAGATTTGGGCAGCCAGCAAGTCTGGAGCATGAAGGAGAGTTCTGGGCCACTCCTTGACCTGAGGTTGGCACCAGTGAGCCCAGTAGGAGACCTGTGGCCCAGCGTGGTTCGGGATCTGAGTGCCCAGGGTGACTAAGTGCGTTC... | GGAGCCTGCCAGACCTGCATTTGAAATCTGTCACGTCCAAGCTCTGGATGCTTGGCCGTTCCCTTCCCATCTCAGCTTCAGTCACCTCACCCCTTACATGCAGAGTTTTATGAAATGTGGCAAATAGGAAACACCCAAAACTCTCATGCTTCCTTCCTCACTCCAAAACCTGGGCTAGATTTGGGCAGCCAGCAAGTCTGGAGCATGAAGGAGAGTTCTGGGCCACTCCTTGACCTGAGGTTGGCACCAGTGAGCCCAGTAGGAGACCTGTGGCCCAGCGTGGTTCGGGATCTGAGTGCCCAGGGTGACTAAGTGCGTTC... |
Task1_train_6213 | The gene TMEM43 (transmembrane protein 43) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Primary dilated cardiomyopathy | GGAGCCTGCCAGACCTGCATTTGAAATCTGTCACGTCCAAGCTCTGGATGCTTGGCCGTTCCCTTCCCATCTCAGCTTCAGTCACCTCACCCCTTACATGCAGAGTTTTATGAAATGTGGCAAATAGGAAACACCCAAAACTCTCATGCTTCCTTCCTCACTCCAAAACCTGGGCTAGATTTGGGCAGCCAGCAAGTCTGGAGCATGAAGGAGAGTTCTGGGCCACTCCTTGACCTGAGGTTGGCACCAGTGAGCCCAGTAGGAGACCTGTGGCCCAGCGTGGTTCGGGATCTGAGTGCCCAGGGTGACTAAGTGCGTTC... | GGAGCCTGCCAGACCTGCATTTGAAATCTGTCACGTCCAAGCTCTGGATGCTTGGCCGTTCCCTTCCCATCTCAGCTTCAGTCACCTCACCCCTTACATGCAGAGTTTTATGAAATGTGGCAAATAGGAAACACCCAAAACTCTCATGCTTCCTTCCTCACTCCAAAACCTGGGCTAGATTTGGGCAGCCAGCAAGTCTGGAGCATGAAGGAGAGTTCTGGGCCACTCCTTGACCTGAGGTTGGCACCAGTGAGCCCAGTAGGAGACCTGTGGCCCAGCGTGGTTCGGGATCTGAGTGCCCAGGGTGACTAAGTGCGTTC... |
Task1_train_6214 | The gene TMEM43 (transmembrane protein 43) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Arrhythmogenic right ventricular dysplasia 5 | GGAGCCTGCCAGACCTGCATTTGAAATCTGTCACGTCCAAGCTCTGGATGCTTGGCCGTTCCCTTCCCATCTCAGCTTCAGTCACCTCACCCCTTACATGCAGAGTTTTATGAAATGTGGCAAATAGGAAACACCCAAAACTCTCATGCTTCCTTCCTCACTCCAAAACCTGGGCTAGATTTGGGCAGCCAGCAAGTCTGGAGCATGAAGGAGAGTTCTGGGCCACTCCTTGACCTGAGGTTGGCACCAGTGAGCCCAGTAGGAGACCTGTGGCCCAGCGTGGTTCGGGATCTGAGTGCCCAGGGTGACTAAGTGCGTTC... | GGAGCCTGCCAGACCTGCATTTGAAATCTGTCACGTCCAAGCTCTGGATGCTTGGCCGTTCCCTTCCCATCTCAGCTTCAGTCACCTCACCCCTTACATGCAGAGTTTTATGAAATGTGGCAAATAGGAAACACCCAAAACTCTCATGCTTCCTTCCTCACTCCAAAACCTGGGCTAGATTTGGGCAGCCAGCAAGTCTGGAGCATGAAGGAGAGTTCTGGGCCACTCCTTGACCTGAGGTTGGCACCAGTGAGCCCAGTAGGAGACCTGTGGCCCAGCGTGGTTCGGGATCTGAGTGCCCAGGGTGACTAAGTGCGTTC... |
Task1_train_6215 | This mutation is located in gene TMEM43 (transmembrane protein 43) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Cardiomyopathy | GGAGCCTGCCAGACCTGCATTTGAAATCTGTCACGTCCAAGCTCTGGATGCTTGGCCGTTCCCTTCCCATCTCAGCTTCAGTCACCTCACCCCTTACATGCAGAGTTTTATGAAATGTGGCAAATAGGAAACACCCAAAACTCTCATGCTTCCTTCCTCACTCCAAAACCTGGGCTAGATTTGGGCAGCCAGCAAGTCTGGAGCATGAAGGAGAGTTCTGGGCCACTCCTTGACCTGAGGTTGGCACCAGTGAGCCCAGTAGGAGACCTGTGGCCCAGCGTGGTTCGGGATCTGAGTGCCCAGGGTGACTAAGTGCGTTC... | GGAGCCTGCCAGACCTGCATTTGAAATCTGTCACGTCCAAGCTCTGGATGCTTGGCCGTTCCCTTCCCATCTCAGCTTCAGTCACCTCACCCCTTACATGCAGAGTTTTATGAAATGTGGCAAATAGGAAACACCCAAAACTCTCATGCTTCCTTCCTCACTCCAAAACCTGGGCTAGATTTGGGCAGCCAGCAAGTCTGGAGCATGAAGGAGAGTTCTGGGCCACTCCTTGACCTGAGGTTGGCACCAGTGAGCCCAGTAGGAGACCTGTGGCCCAGCGTGGTTCGGGATCTGAGTGCCCAGGGTGACTAAGTGCGTTC... |
Task1_train_6216 | This alteration in TMEM43 (transmembrane protein 43) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Cardiovascular phenotype | GGAGCCTGCCAGACCTGCATTTGAAATCTGTCACGTCCAAGCTCTGGATGCTTGGCCGTTCCCTTCCCATCTCAGCTTCAGTCACCTCACCCCTTACATGCAGAGTTTTATGAAATGTGGCAAATAGGAAACACCCAAAACTCTCATGCTTCCTTCCTCACTCCAAAACCTGGGCTAGATTTGGGCAGCCAGCAAGTCTGGAGCATGAAGGAGAGTTCTGGGCCACTCCTTGACCTGAGGTTGGCACCAGTGAGCCCAGTAGGAGACCTGTGGCCCAGCGTGGTTCGGGATCTGAGTGCCCAGGGTGACTAAGTGCGTTC... | GGAGCCTGCCAGACCTGCATTTGAAATCTGTCACGTCCAAGCTCTGGATGCTTGGCCGTTCCCTTCCCATCTCAGCTTCAGTCACCTCACCCCTTACATGCAGAGTTTTATGAAATGTGGCAAATAGGAAACACCCAAAACTCTCATGCTTCCTTCCTCACTCCAAAACCTGGGCTAGATTTGGGCAGCCAGCAAGTCTGGAGCATGAAGGAGAGTTCTGGGCCACTCCTTGACCTGAGGTTGGCACCAGTGAGCCCAGTAGGAGACCTGTGGCCCAGCGTGGTTCGGGATCTGAGTGCCCAGGGTGACTAAGTGCGTTC... |
Task1_train_6217 | A variant has been detected on Chromosome 3 in MRPS25 (mitochondrial ribosomal protein S25). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Combined oxidative phosphorylation deficiency 50 | AATCTCATACTTCTAACTCTCTCGGCATCTTACAAAAATCTAAAGGGTCATCAACAGGTAAGTGGACACACTGTGGTACATTCACAGAATGGAATACTACCCAGCCAGAAGCAGCAAAAACCACGAAACATGTAACCTGGGTGAATCTCAAAACATGAGTAAAAGACACCAGGCTCAAGGGAACACATACTGTGAGATTCTAGTTACATGACATTCTAAAACAAAATGCATCTATAGTGAAAGAAGGGATAACGGGTTGCCTCTGGTGGAAGGGAAATTAACCAGAAAGTGGCACTAAGGAACTTCCTGCAGTGCTGGGG... | AATCTCATACTTCTAACTCTCTCGGCATCTTACAAAAATCTAAAGGGTCATCAACAGGTAAGTGGACACACTGTGGTACATTCACAGAATGGAATACTACCCAGCCAGAAGCAGCAAAAACCACGAAACATGTAACCTGGGTGAATCTCAAAACATGAGTAAAAGACACCAGGCTCAAGGGAACACATACTGTGAGATTCTAGTTACATGACATTCTAAAACAAAATGCATCTATAGTGAAAGAAGGGATAACGGGTTGCCTCTGGTGGAAGGGAAATTAACCAGAAAGTGGCACTAAGGAACTTCCTGCAGTGCTGGGG... |
Task1_train_6218 | The variant affects gene COLQ (collagen like tail subunit of asymmetric acetylcholinesterase), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Congenital myasthenic syndrome 5 | CGGCCAAGGGCCAATGGCTCTACAAGAACTTTTTCCCATTCTCATTTGGAGTGAGAGGCCTGGGGGAGTTGAATCATGTCTCTGGGATTTTTGCCTTGAGGTCTAGCTCGGGGCCTGGGTGGAAGGAGGTGGTTGCCCTGCTCTTAGCACAGCATCTGTGAGGGAATCCCCCTTGCTACGATGCAGCCTACCAACAAAAATGTCCTGTATCTGTGAAGCCACTGGCCAGATGTGGCTATTGAGCTCTTGAAATGTAGTTACTGTGACTGAATAACTGCATTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTGTCCCCC... | CGGCCAAGGGCCAATGGCTCTACAAGAACTTTTTCCCATTCTCATTTGGAGTGAGAGGCCTGGGGGAGTTGAATCATGTCTCTGGGATTTTTGCCTTGAGGTCTAGCTCGGGGCCTGGGTGGAAGGAGGTGGTTGCCCTGCTCTTAGCACAGCATCTGTGAGGGAATCCCCCTTGCTACGATGCAGCCTACCAACAAAAATGTCCTGTATCTGTGAAGCCACTGGCCAGATGTGGCTATTGAGCTCTTGAAATGTAGTTACTGTGACTGAATAACTGCATTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTGTCCCCC... |
Task1_train_6219 | A mutation in COLQ (collagen like tail subunit of asymmetric acetylcholinesterase), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Slow-Channel Congenital Myasthenia Syndrome | CGGCCAAGGGCCAATGGCTCTACAAGAACTTTTTCCCATTCTCATTTGGAGTGAGAGGCCTGGGGGAGTTGAATCATGTCTCTGGGATTTTTGCCTTGAGGTCTAGCTCGGGGCCTGGGTGGAAGGAGGTGGTTGCCCTGCTCTTAGCACAGCATCTGTGAGGGAATCCCCCTTGCTACGATGCAGCCTACCAACAAAAATGTCCTGTATCTGTGAAGCCACTGGCCAGATGTGGCTATTGAGCTCTTGAAATGTAGTTACTGTGACTGAATAACTGCATTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTGTCCCCC... | CGGCCAAGGGCCAATGGCTCTACAAGAACTTTTTCCCATTCTCATTTGGAGTGAGAGGCCTGGGGGAGTTGAATCATGTCTCTGGGATTTTTGCCTTGAGGTCTAGCTCGGGGCCTGGGTGGAAGGAGGTGGTTGCCCTGCTCTTAGCACAGCATCTGTGAGGGAATCCCCCTTGCTACGATGCAGCCTACCAACAAAAATGTCCTGTATCTGTGAAGCCACTGGCCAGATGTGGCTATTGAGCTCTTGAAATGTAGTTACTGTGACTGAATAACTGCATTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTGTCCCCC... |
Task1_train_6220 | This variant impacts the gene COLQ (collagen like tail subunit of asymmetric acetylcholinesterase) on Chromosome 3. Is the change likely to result in a pathogenic outcome? | Pathogenic; Congenital myasthenic syndrome | CGGCCAAGGGCCAATGGCTCTACAAGAACTTTTTCCCATTCTCATTTGGAGTGAGAGGCCTGGGGGAGTTGAATCATGTCTCTGGGATTTTTGCCTTGAGGTCTAGCTCGGGGCCTGGGTGGAAGGAGGTGGTTGCCCTGCTCTTAGCACAGCATCTGTGAGGGAATCCCCCTTGCTACGATGCAGCCTACCAACAAAAATGTCCTGTATCTGTGAAGCCACTGGCCAGATGTGGCTATTGAGCTCTTGAAATGTAGTTACTGTGACTGAATAACTGCATTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTGTCCCCC... | CGGCCAAGGGCCAATGGCTCTACAAGAACTTTTTCCCATTCTCATTTGGAGTGAGAGGCCTGGGGGAGTTGAATCATGTCTCTGGGATTTTTGCCTTGAGGTCTAGCTCGGGGCCTGGGTGGAAGGAGGTGGTTGCCCTGCTCTTAGCACAGCATCTGTGAGGGAATCCCCCTTGCTACGATGCAGCCTACCAACAAAAATGTCCTGTATCTGTGAAGCCACTGGCCAGATGTGGCTATTGAGCTCTTGAAATGTAGTTACTGTGACTGAATAACTGCATTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTGTCCCCC... |
Task1_train_6221 | Here is a genetic alteration in COLQ (collagen like tail subunit of asymmetric acetylcholinesterase) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Congenital myasthenic syndrome 5 | AATGGCTCTACAAGAACTTTTTCCCATTCTCATTTGGAGTGAGAGGCCTGGGGGAGTTGAATCATGTCTCTGGGATTTTTGCCTTGAGGTCTAGCTCGGGGCCTGGGTGGAAGGAGGTGGTTGCCCTGCTCTTAGCACAGCATCTGTGAGGGAATCCCCCTTGCTACGATGCAGCCTACCAACAAAAATGTCCTGTATCTGTGAAGCCACTGGCCAGATGTGGCTATTGAGCTCTTGAAATGTAGTTACTGTGACTGAATAACTGCATTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTGTCCCCCAGGCTGGAGTGC... | AATGGCTCTACAAGAACTTTTTCCCATTCTCATTTGGAGTGAGAGGCCTGGGGGAGTTGAATCATGTCTCTGGGATTTTTGCCTTGAGGTCTAGCTCGGGGCCTGGGTGGAAGGAGGTGGTTGCCCTGCTCTTAGCACAGCATCTGTGAGGGAATCCCCCTTGCTACGATGCAGCCTACCAACAAAAATGTCCTGTATCTGTGAAGCCACTGGCCAGATGTGGCTATTGAGCTCTTGAAATGTAGTTACTGTGACTGAATAACTGCATTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTGTCCCCCAGGCTGGAGTGC... |
Task1_train_6222 | Gene COLQ (collagen like tail subunit of asymmetric acetylcholinesterase) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Congenital myasthenic syndrome 5 | TGGGGGAGTTGAATCATGTCTCTGGGATTTTTGCCTTGAGGTCTAGCTCGGGGCCTGGGTGGAAGGAGGTGGTTGCCCTGCTCTTAGCACAGCATCTGTGAGGGAATCCCCCTTGCTACGATGCAGCCTACCAACAAAAATGTCCTGTATCTGTGAAGCCACTGGCCAGATGTGGCTATTGAGCTCTTGAAATGTAGTTACTGTGACTGAATAACTGCATTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGC... | TGGGGGAGTTGAATCATGTCTCTGGGATTTTTGCCTTGAGGTCTAGCTCGGGGCCTGGGTGGAAGGAGGTGGTTGCCCTGCTCTTAGCACAGCATCTGTGAGGGAATCCCCCTTGCTACGATGCAGCCTACCAACAAAAATGTCCTGTATCTGTGAAGCCACTGGCCAGATGTGGCTATTGAGCTCTTGAAATGTAGTTACTGTGACTGAATAACTGCATTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGC... |
Task1_train_6223 | A variant has been detected on Chromosome 3 in COLQ (collagen like tail subunit of asymmetric acetylcholinesterase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Congenital myasthenic syndrome 5 | CCTTGAGGTCTAGCTCGGGGCCTGGGTGGAAGGAGGTGGTTGCCCTGCTCTTAGCACAGCATCTGTGAGGGAATCCCCCTTGCTACGATGCAGCCTACCAACAAAAATGTCCTGTATCTGTGAAGCCACTGGCCAGATGTGGCTATTGAGCTCTTGAAATGTAGTTACTGTGACTGAATAACTGCATTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGATTGTCCTGCCTCAGCTTCCTGAGTACCTGGG... | CCTTGAGGTCTAGCTCGGGGCCTGGGTGGAAGGAGGTGGTTGCCCTGCTCTTAGCACAGCATCTGTGAGGGAATCCCCCTTGCTACGATGCAGCCTACCAACAAAAATGTCCTGTATCTGTGAAGCCACTGGCCAGATGTGGCTATTGAGCTCTTGAAATGTAGTTACTGTGACTGAATAACTGCATTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGATTGTCCTGCCTCAGCTTCCTGAGTACCTGGG... |
Task1_train_6224 | This alteration in COLQ (collagen like tail subunit of asymmetric acetylcholinesterase) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Congenital myasthenic syndrome 5 | GCCCCCTGCATGGGAAGGCACTTGGGAACTAACTGCTCCTTACACCCTCTTTCTCCTCCCCATGGAAGGCTCAGACCCAGCTGTCCCTCACCGATGGAGCACCCTCTTGGAGGCAGGCCAGAGGGGCCAGGACTCTGTGGGGTGGGGTCTCTGGAGGGTACTCTTGTTTGTCTAGAAATCCTTTCTGCAGCATTTTGACTGTTTCCCCTTTAGCTTTGGTGGGGAGGGGTGGGCTGCTTGGTAGCAATACCTGGGGGCCCAGTGAGGCAGGAAACCATCTCCTCTGCACCTCCACTTTCCTGTGCTGAACGCAGGCACCT... | GCCCCCTGCATGGGAAGGCACTTGGGAACTAACTGCTCCTTACACCCTCTTTCTCCTCCCCATGGAAGGCTCAGACCCAGCTGTCCCTCACCGATGGAGCACCCTCTTGGAGGCAGGCCAGAGGGGCCAGGACTCTGTGGGGTGGGGTCTCTGGAGGGTACTCTTGTTTGTCTAGAAATCCTTTCTGCAGCATTTTGACTGTTTCCCCTTTAGCTTTGGTGGGGAGGGGTGGGCTGCTTGGTAGCAATACCTGGGGGCCCAGTGAGGCAGGAAACCATCTCCTCTGCACCTCCACTTTCCTGTGCTGAACGCAGGCACCT... |
Task1_train_6225 | The gene BTD (biotinidase), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Biotinidase deficiency | CGAGAATTACTTGAACCCAGGAGGCGGAGATTGCAGTGAGCCGAGATCACAACACTGCACTCCAGCCTGGGCGACAGACCAAGACTCTCTCTCAAAAAACAAAACAAAACTTAAAACTCTAATTTTTATACCCTTTGATCCAGTAATTTCACTTGTAAGACTTTATTCCAAAGAAATAATCAAAAGATGCAATCAAAGATTTGTGTGAAGTGTATAATTATGCAATAAGTGTTTTGAGCACACTATGCAGATGGTCACCACAGTTTTCTTTTTATTACAAAAAGTTGGGAACACTTCAAATTCCAATAATAGAGGATAAA... | CGAGAATTACTTGAACCCAGGAGGCGGAGATTGCAGTGAGCCGAGATCACAACACTGCACTCCAGCCTGGGCGACAGACCAAGACTCTCTCTCAAAAAACAAAACAAAACTTAAAACTCTAATTTTTATACCCTTTGATCCAGTAATTTCACTTGTAAGACTTTATTCCAAAGAAATAATCAAAAGATGCAATCAAAGATTTGTGTGAAGTGTATAATTATGCAATAAGTGTTTTGAGCACACTATGCAGATGGTCACCACAGTTTTCTTTTTATTACAAAAAGTTGGGAACACTTCAAATTCCAATAATAGAGGATAAA... |
Task1_train_6226 | Chromosome 3 houses a mutation in gene BTD (biotinidase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Biotinidase deficiency | TACACAATAAATACAGGAATGTATACTTAAACCAAACCAAAAGTAAAAAAAGAAAAGTTCATCTTCACCACAGCCTGCACCTCATCCCATGCCCTTGCTTAGAGAAACTGCCATCAACAATTTGATGTGCATTCAGTTGTATTCTTTTCTATGCATTTCATAGTTATTGACATCCTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGCCACCCAGGCTGGAGCGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCTGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG... | TACACAATAAATACAGGAATGTATACTTAAACCAAACCAAAAGTAAAAAAAGAAAAGTTCATCTTCACCACAGCCTGCACCTCATCCCATGCCCTTGCTTAGAGAAACTGCCATCAACAATTTGATGTGCATTCAGTTGTATTCTTTTCTATGCATTTCATAGTTATTGACATCCTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGCCACCCAGGCTGGAGCGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCTGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG... |
Task1_train_6227 | A mutation on Chromosome 3 affecting BTD (biotinidase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not specified | AATACAGGAATGTATACTTAAACCAAACCAAAAGTAAAAAAAGAAAAGTTCATCTTCACCACAGCCTGCACCTCATCCCATGCCCTTGCTTAGAGAAACTGCCATCAACAATTTGATGTGCATTCAGTTGTATTCTTTTCTATGCATTTCATAGTTATTGACATCCTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGCCACCCAGGCTGGAGCGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCTGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACC... | AATACAGGAATGTATACTTAAACCAAACCAAAAGTAAAAAAAGAAAAGTTCATCTTCACCACAGCCTGCACCTCATCCCATGCCCTTGCTTAGAGAAACTGCCATCAACAATTTGATGTGCATTCAGTTGTATTCTTTTCTATGCATTTCATAGTTATTGACATCCTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGCCACCCAGGCTGGAGCGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCTGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACC... |
Task1_train_6228 | This variant affects the gene BTD (biotinidase) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Biotinidase deficiency | AATACAGGAATGTATACTTAAACCAAACCAAAAGTAAAAAAAGAAAAGTTCATCTTCACCACAGCCTGCACCTCATCCCATGCCCTTGCTTAGAGAAACTGCCATCAACAATTTGATGTGCATTCAGTTGTATTCTTTTCTATGCATTTCATAGTTATTGACATCCTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGCCACCCAGGCTGGAGCGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCTGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACC... | AATACAGGAATGTATACTTAAACCAAACCAAAAGTAAAAAAAGAAAAGTTCATCTTCACCACAGCCTGCACCTCATCCCATGCCCTTGCTTAGAGAAACTGCCATCAACAATTTGATGTGCATTCAGTTGTATTCTTTTCTATGCATTTCATAGTTATTGACATCCTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGCCACCCAGGCTGGAGCGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCTGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACC... |
Task1_train_6229 | Given a variant located on Chromosome 3 and affecting BTD (biotinidase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Biotinidase deficiency | AGGAATGTATACTTAAACCAAACCAAAAGTAAAAAAAGAAAAGTTCATCTTCACCACAGCCTGCACCTCATCCCATGCCCTTGCTTAGAGAAACTGCCATCAACAATTTGATGTGCATTCAGTTGTATTCTTTTCTATGCATTTCATAGTTATTGACATCCTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGCCACCCAGGCTGGAGCGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCTGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCAC... | AGGAATGTATACTTAAACCAAACCAAAAGTAAAAAAAGAAAAGTTCATCTTCACCACAGCCTGCACCTCATCCCATGCCCTTGCTTAGAGAAACTGCCATCAACAATTTGATGTGCATTCAGTTGTATTCTTTTCTATGCATTTCATAGTTATTGACATCCTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGCCACCCAGGCTGGAGCGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCTGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCAC... |
Task1_train_6230 | The gene BTD (biotinidase) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Inborn genetic diseases | TCATCTTCACCACAGCCTGCACCTCATCCCATGCCCTTGCTTAGAGAAACTGCCATCAACAATTTGATGTGCATTCAGTTGTATTCTTTTCTATGCATTTCATAGTTATTGACATCCTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGCCACCCAGGCTGGAGCGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCTGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCACGCCCGGCTAATTTTTTTTGTGTGTGTATTTTTAGTAGAGATGGG... | TCATCTTCACCACAGCCTGCACCTCATCCCATGCCCTTGCTTAGAGAAACTGCCATCAACAATTTGATGTGCATTCAGTTGTATTCTTTTCTATGCATTTCATAGTTATTGACATCCTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGCCACCCAGGCTGGAGCGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCTGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCACGCCCGGCTAATTTTTTTTGTGTGTGTATTTTTAGTAGAGATGGG... |
Task1_train_6231 | The variant affects gene BTD (biotinidase), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Biotinidase deficiency | TCATCTTCACCACAGCCTGCACCTCATCCCATGCCCTTGCTTAGAGAAACTGCCATCAACAATTTGATGTGCATTCAGTTGTATTCTTTTCTATGCATTTCATAGTTATTGACATCCTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGCCACCCAGGCTGGAGCGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCTGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCACGCCCGGCTAATTTTTTTTGTGTGTGTATTTTTAGTAGAGATGGG... | TCATCTTCACCACAGCCTGCACCTCATCCCATGCCCTTGCTTAGAGAAACTGCCATCAACAATTTGATGTGCATTCAGTTGTATTCTTTTCTATGCATTTCATAGTTATTGACATCCTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGCCACCCAGGCTGGAGCGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCTGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCACGCCCGGCTAATTTTTTTTGTGTGTGTATTTTTAGTAGAGATGGG... |
Task1_train_6232 | Consider a variant on Chromosome 3 in gene BTD (biotinidase). Determine its clinical classification and disease relevance. | Pathogenic; Biotinidase deficiency | ATCAACAATTTGATGTGCATTCAGTTGTATTCTTTTCTATGCATTTCATAGTTATTGACATCCTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGCCACCCAGGCTGGAGCGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCTGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCACGCCCGGCTAATTTTTTTTGTGTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGTCTA... | ATCAACAATTTGATGTGCATTCAGTTGTATTCTTTTCTATGCATTTCATAGTTATTGACATCCTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGCCACCCAGGCTGGAGCGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCTGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCACGCCCGGCTAATTTTTTTTGTGTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGTCTA... |
Task1_train_6233 | Given a variant located on Chromosome 3 and affecting BTD (biotinidase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Biotinidase deficiency | TTCATAGTTATTGACATCCTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGCCACCCAGGCTGGAGCGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCTGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCACGCCCGGCTAATTTTTTTTGTGTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGTCTACCTCGGCCTGCCAAAGTGCTGGGATTACAGGCATGAGCCACTGT... | TTCATAGTTATTGACATCCTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGCCACCCAGGCTGGAGCGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCTGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCACGCCCGGCTAATTTTTTTTGTGTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGTCTACCTCGGCCTGCCAAAGTGCTGGGATTACAGGCATGAGCCACTGT... |
Task1_train_6234 | Assess the clinical impact of this variant on gene BTD (biotinidase), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Biotinidase deficiency | AGTTATTGACATCCTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGCCACCCAGGCTGGAGCGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCTGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCACGCCCGGCTAATTTTTTTTGTGTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGTCTACCTCGGCCTGCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTG... | AGTTATTGACATCCTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGCCACCCAGGCTGGAGCGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCTGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCACGCCCGGCTAATTTTTTTTGTGTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGTCTACCTCGGCCTGCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTG... |
Task1_train_6235 | A genomic change on Chromosome 3 affects BTD (biotinidase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Biotinidase deficiency | CCTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGCCACCCAGGCTGGAGCGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCTGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCACGCCCGGCTAATTTTTTTTGTGTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGTCTACCTCGGCCTGCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTTGACATCC... | CCTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGCCACCCAGGCTGGAGCGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCTGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCACGCCCGGCTAATTTTTTTTGTGTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGTCTACCTCGGCCTGCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTTGACATCC... |
Task1_train_6236 | Given this context: Chromosome 3, gene BTD (biotinidase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Biotinidase deficiency | GCCACCCAGGCTGGAGCGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCTGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCACGCCCGGCTAATTTTTTTTGTGTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGTCTACCTCGGCCTGCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTTGACATCCTCTTTTTAAGCATACTATATGCTTATTCATTTTAAATTTT... | GCCACCCAGGCTGGAGCGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCTGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCACGCCCGGCTAATTTTTTTTGTGTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGTCTACCTCGGCCTGCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTTGACATCCTCTTTTTAAGCATACTATATGCTTATTCATTTTAAATTTT... |
Task1_train_6237 | This mutation occurs in BTD (biotinidase) on Chromosome 3. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Biotinidase deficiency | CGATCTCAGCTCACTGCAAGCTCTGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCACGCCCGGCTAATTTTTTTTGTGTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGTCTACCTCGGCCTGCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTTGACATCCTCTTTTTAAGCATACTATATGCTTATTCATTTTAAATTTTTGCTATTATATTTTTGTAAACATGTT... | CGATCTCAGCTCACTGCAAGCTCTGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCACGCCCGGCTAATTTTTTTTGTGTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGTCTACCTCGGCCTGCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTTGACATCCTCTTTTTAAGCATACTATATGCTTATTCATTTTAAATTTTTGCTATTATATTTTTGTAAACATGTT... |
Task1_train_6238 | The variant affects gene BTD (biotinidase), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Biotinidase deficiency | TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCACGCCCGGCTAATTTTTTTTGTGTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGTCTACCTCGGCCTGCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTTGACATCCTCTTTTTAAGCATACTATATGCTTATTCATTTTAAATTTTTGCTATTATATTTTTGTAAACATGTTCAAGTTTTTCTGTAAAATAAAATTTTTAGAAATGAAATCCCTCAGG... | TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCACGCCCGGCTAATTTTTTTTGTGTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGTCTACCTCGGCCTGCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTTGACATCCTCTTTTTAAGCATACTATATGCTTATTCATTTTAAATTTTTGCTATTATATTTTTGTAAACATGTTCAAGTTTTTCTGTAAAATAAAATTTTTAGAAATGAAATCCCTCAGG... |
Task1_train_6239 | This alteration in BTD (biotinidase) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Biotinidase deficiency | TTTTTTTTGTGTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGTCTACCTCGGCCTGCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTTGACATCCTCTTTTTAAGCATACTATATGCTTATTCATTTTAAATTTTTGCTATTATATTTTTGTAAACATGTTCAAGTTTTTCTGTAAAATAAAATTTTTAGAAATGAAATCCCTCAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAAT... | TTTTTTTTGTGTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGTCTACCTCGGCCTGCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTTGACATCCTCTTTTTAAGCATACTATATGCTTATTCATTTTAAATTTTTGCTATTATATTTTTGTAAACATGTTCAAGTTTTTCTGTAAAATAAAATTTTTAGAAATGAAATCCCTCAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAAT... |
Task1_train_6240 | A genomic change on Chromosome 3 affects BTD (biotinidase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Biotinidase deficiency | TTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGTCTACCTCGGCCTGCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTTGACATCCTCTTTTTAAGCATACTATATGCTTATTCATTTTAAATTTTTGCTATTATATTTTTGTAAACATGTTCAAGTTTTTCTGTAAAATAAAATTTTTAGAAATGAAATCCCTCAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGC... | TTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGTCTACCTCGGCCTGCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTTGACATCCTCTTTTTAAGCATACTATATGCTTATTCATTTTAAATTTTTGCTATTATATTTTTGTAAACATGTTCAAGTTTTTCTGTAAAATAAAATTTTTAGAAATGAAATCCCTCAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGC... |
Task1_train_6241 | This variant affects gene BTD (biotinidase) located on Chromosome 3. Evaluate its biological effect and specify any disease association. | Pathogenic; Biotinidase deficiency | AGGATGGTCTCGATCTCCTGACCTTGTGATCTGTCTACCTCGGCCTGCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTTGACATCCTCTTTTTAAGCATACTATATGCTTATTCATTTTAAATTTTTGCTATTATATTTTTGTAAACATGTTCAAGTTTTTCTGTAAAATAAAATTTTTAGAAATGAAATCCCTCAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGGAGTTGCGGTGAGAAAGATCGCGCCACTGCA... | AGGATGGTCTCGATCTCCTGACCTTGTGATCTGTCTACCTCGGCCTGCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTTGACATCCTCTTTTTAAGCATACTATATGCTTATTCATTTTAAATTTTTGCTATTATATTTTTGTAAACATGTTCAAGTTTTTCTGTAAAATAAAATTTTTAGAAATGAAATCCCTCAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGGAGTTGCGGTGAGAAAGATCGCGCCACTGCA... |
Task1_train_6242 | Given this context: Chromosome 3, gene BTD (biotinidase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not specified | CTTGTGATCTGTCTACCTCGGCCTGCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTTGACATCCTCTTTTTAAGCATACTATATGCTTATTCATTTTAAATTTTTGCTATTATATTTTTGTAAACATGTTCAAGTTTTTCTGTAAAATAAAATTTTTAGAAATGAAATCCCTCAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGGAGTTGCGGTGAGAAAGATCGCGCCACTGCATTCCAGCCTGGACAACAGGAGC... | CTTGTGATCTGTCTACCTCGGCCTGCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTTGACATCCTCTTTTTAAGCATACTATATGCTTATTCATTTTAAATTTTTGCTATTATATTTTTGTAAACATGTTCAAGTTTTTCTGTAAAATAAAATTTTTAGAAATGAAATCCCTCAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGGAGTTGCGGTGAGAAAGATCGCGCCACTGCATTCCAGCCTGGACAACAGGAGC... |
Task1_train_6243 | A variant was discovered on Chromosome 3, affecting BTD (biotinidase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Biotinidase deficiency | CTTGTGATCTGTCTACCTCGGCCTGCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTTGACATCCTCTTTTTAAGCATACTATATGCTTATTCATTTTAAATTTTTGCTATTATATTTTTGTAAACATGTTCAAGTTTTTCTGTAAAATAAAATTTTTAGAAATGAAATCCCTCAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGGAGTTGCGGTGAGAAAGATCGCGCCACTGCATTCCAGCCTGGACAACAGGAGC... | CTTGTGATCTGTCTACCTCGGCCTGCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTTGACATCCTCTTTTTAAGCATACTATATGCTTATTCATTTTAAATTTTTGCTATTATATTTTTGTAAACATGTTCAAGTTTTTCTGTAAAATAAAATTTTTAGAAATGAAATCCCTCAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGGAGTTGCGGTGAGAAAGATCGCGCCACTGCATTCCAGCCTGGACAACAGGAGC... |
Task1_train_6244 | This variant affects gene BTD (biotinidase) located on Chromosome 3. Evaluate its biological effect and specify any disease association. | Pathogenic; Biotinidase deficiency | GTGGTGGCTCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGGAGTTGCGGTGAGAAAGATCGCGCCACTGCATTCCAGCCTGGACAACAGGAGCAAAACTCTGCCTCAAAAAAAAAAAAAAAAATAAAATAAAATAAAGAAATGGAATCCCTCAAAGGATATGTACATTTTAAATTATATTAAAGAGTACCAAATTTCCCGCTTAAAAAACTTTGATTTCACTTTACAGCCCCAGTCATACAGTATGAGTGCCTCTTTTTCCATCCTTTGGTCAATGCAAGATAGAAT... | GTGGTGGCTCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGGAGTTGCGGTGAGAAAGATCGCGCCACTGCATTCCAGCCTGGACAACAGGAGCAAAACTCTGCCTCAAAAAAAAAAAAAAAAATAAAATAAAATAAAGAAATGGAATCCCTCAAAGGATATGTACATTTTAAATTATATTAAAGAGTACCAAATTTCCCGCTTAAAAAACTTTGATTTCACTTTACAGCCCCAGTCATACAGTATGAGTGCCTCTTTTTCCATCCTTTGGTCAATGCAAGATAGAAT... |
Task1_train_6245 | Given this context: Chromosome 3, gene BTD (biotinidase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Biotinidase deficiency | ATATGTACATTTTAAATTATATTAAAGAGTACCAAATTTCCCGCTTAAAAAACTTTGATTTCACTTTACAGCCCCAGTCATACAGTATGAGTGCCTCTTTTTCCATCCTTTGGTCAATGCAAGATAGAATAATCTTTTGAGCCTGGGCACAGTGCTTCACATCTGTAATCCCAGCATTCTGGGAGGCCAAGGCTGGTGGATAGCTTGAGCTCATGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACAATAAATACAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCCACTCAGAAG... | ATATGTACATTTTAAATTATATTAAAGAGTACCAAATTTCCCGCTTAAAAAACTTTGATTTCACTTTACAGCCCCAGTCATACAGTATGAGTGCCTCTTTTTCCATCCTTTGGTCAATGCAAGATAGAATAATCTTTTGAGCCTGGGCACAGTGCTTCACATCTGTAATCCCAGCATTCTGGGAGGCCAAGGCTGGTGGATAGCTTGAGCTCATGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACAATAAATACAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCCACTCAGAAG... |
Task1_train_6246 | Given this variant in gene BTD (biotinidase) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Biotinidase deficiency | TAAAAAACTTTGATTTCACTTTACAGCCCCAGTCATACAGTATGAGTGCCTCTTTTTCCATCCTTTGGTCAATGCAAGATAGAATAATCTTTTGAGCCTGGGCACAGTGCTTCACATCTGTAATCCCAGCATTCTGGGAGGCCAAGGCTGGTGGATAGCTTGAGCTCATGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACAATAAATACAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCCACTCAGAAGGCTGAGATAGGAGGATGGCTTGAGCCTGGGAGGCGGAAGTTGCAG... | TAAAAAACTTTGATTTCACTTTACAGCCCCAGTCATACAGTATGAGTGCCTCTTTTTCCATCCTTTGGTCAATGCAAGATAGAATAATCTTTTGAGCCTGGGCACAGTGCTTCACATCTGTAATCCCAGCATTCTGGGAGGCCAAGGCTGGTGGATAGCTTGAGCTCATGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACAATAAATACAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCCACTCAGAAGGCTGAGATAGGAGGATGGCTTGAGCCTGGGAGGCGGAAGTTGCAG... |
Task1_train_6247 | Gene BTD (biotinidase) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Biotinidase deficiency | CTTTACAGCCCCAGTCATACAGTATGAGTGCCTCTTTTTCCATCCTTTGGTCAATGCAAGATAGAATAATCTTTTGAGCCTGGGCACAGTGCTTCACATCTGTAATCCCAGCATTCTGGGAGGCCAAGGCTGGTGGATAGCTTGAGCTCATGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACAATAAATACAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCCACTCAGAAGGCTGAGATAGGAGGATGGCTTGAGCCTGGGAGGCGGAAGTTGCAGTGAGCCAAGATTGTGCCA... | CTTTACAGCCCCAGTCATACAGTATGAGTGCCTCTTTTTCCATCCTTTGGTCAATGCAAGATAGAATAATCTTTTGAGCCTGGGCACAGTGCTTCACATCTGTAATCCCAGCATTCTGGGAGGCCAAGGCTGGTGGATAGCTTGAGCTCATGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACAATAAATACAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCCACTCAGAAGGCTGAGATAGGAGGATGGCTTGAGCCTGGGAGGCGGAAGTTGCAGTGAGCCAAGATTGTGCCA... |
Task1_train_6248 | Gene BTD (biotinidase), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Biotinidase deficiency | TTTTCCATCCTTTGGTCAATGCAAGATAGAATAATCTTTTGAGCCTGGGCACAGTGCTTCACATCTGTAATCCCAGCATTCTGGGAGGCCAAGGCTGGTGGATAGCTTGAGCTCATGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACAATAAATACAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCCACTCAGAAGGCTGAGATAGGAGGATGGCTTGAGCCTGGGAGGCGGAAGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACCCTG... | TTTTCCATCCTTTGGTCAATGCAAGATAGAATAATCTTTTGAGCCTGGGCACAGTGCTTCACATCTGTAATCCCAGCATTCTGGGAGGCCAAGGCTGGTGGATAGCTTGAGCTCATGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACAATAAATACAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCCACTCAGAAGGCTGAGATAGGAGGATGGCTTGAGCCTGGGAGGCGGAAGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACCCTG... |
Task1_train_6249 | Here is a variant affecting BTD (biotinidase) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Biotinidase deficiency | AAGGCTGGTGGATAGCTTGAGCTCATGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACAATAAATACAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCCACTCAGAAGGCTGAGATAGGAGGATGGCTTGAGCCTGGGAGGCGGAAGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACCCTGCCTCAAAAAAAAAAGAAAAAGAAGAATCTTTTGAATTTTTGCCAGTCTTATGAAGGTGAGAAATGATAGCTATTTCATTGTTGTAATTTG... | AAGGCTGGTGGATAGCTTGAGCTCATGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACAATAAATACAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCCACTCAGAAGGCTGAGATAGGAGGATGGCTTGAGCCTGGGAGGCGGAAGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACCCTGCCTCAAAAAAAAAAGAAAAAGAAGAATCTTTTGAATTTTTGCCAGTCTTATGAAGGTGAGAAATGATAGCTATTTCATTGTTGTAATTTG... |
Task1_train_6250 | A change on Chromosome 3 affects gene BTD (biotinidase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Biotinidase deficiency | TCAAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACAATAAATACAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCCACTCAGAAGGCTGAGATAGGAGGATGGCTTGAGCCTGGGAGGCGGAAGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACCCTGCCTCAAAAAAAAAAGAAAAAGAAGAATCTTTTGAATTTTTGCCAGTCTTATGAAGGTGAGAAATGATAGCTATTTCATTGTTGTAATTTGCACTTCTCTCTCACTAATGAGATTGAGCAT... | TCAAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACAATAAATACAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCCACTCAGAAGGCTGAGATAGGAGGATGGCTTGAGCCTGGGAGGCGGAAGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACCCTGCCTCAAAAAAAAAAGAAAAAGAAGAATCTTTTGAATTTTTGCCAGTCTTATGAAGGTGAGAAATGATAGCTATTTCATTGTTGTAATTTGCACTTCTCTCTCACTAATGAGATTGAGCAT... |
Task1_train_6251 | The gene BTD (biotinidase) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Biotinidase deficiency | TCTACAATAAATACAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCCACTCAGAAGGCTGAGATAGGAGGATGGCTTGAGCCTGGGAGGCGGAAGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACCCTGCCTCAAAAAAAAAAGAAAAAGAAGAATCTTTTGAATTTTTGCCAGTCTTATGAAGGTGAGAAATGATAGCTATTTCATTGTTGTAATTTGCACTTCTCTCTCACTAATGAGATTGAGCATCTTTTGAGATGTTTGTGGGTCACTTTTCTTTGTCCT... | TCTACAATAAATACAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCCACTCAGAAGGCTGAGATAGGAGGATGGCTTGAGCCTGGGAGGCGGAAGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACCCTGCCTCAAAAAAAAAAGAAAAAGAAGAATCTTTTGAATTTTTGCCAGTCTTATGAAGGTGAGAAATGATAGCTATTTCATTGTTGTAATTTGCACTTCTCTCTCACTAATGAGATTGAGCATCTTTTGAGATGTTTGTGGGTCACTTTTCTTTGTCCT... |
Task1_train_6252 | Chromosome 3 houses a mutation in gene BTD (biotinidase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Biotinidase deficiency | AGATAGGAGGATGGCTTGAGCCTGGGAGGCGGAAGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACCCTGCCTCAAAAAAAAAAGAAAAAGAAGAATCTTTTGAATTTTTGCCAGTCTTATGAAGGTGAGAAATGATAGCTATTTCATTGTTGTAATTTGCACTTCTCTCTCACTAATGAGATTGAGCATCTTTTGAGATGTTTGTGGGTCACTTTTCTTTGTCCTTCTGTGAATCACCTGTTTATATCCTTTGCACATTTTCAGTAGTGGTTGCTTTTTTCTTATTGATTTATGA... | AGATAGGAGGATGGCTTGAGCCTGGGAGGCGGAAGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACCCTGCCTCAAAAAAAAAAGAAAAAGAAGAATCTTTTGAATTTTTGCCAGTCTTATGAAGGTGAGAAATGATAGCTATTTCATTGTTGTAATTTGCACTTCTCTCTCACTAATGAGATTGAGCATCTTTTGAGATGTTTGTGGGTCACTTTTCTTTGTCCTTCTGTGAATCACCTGTTTATATCCTTTGCACATTTTCAGTAGTGGTTGCTTTTTTCTTATTGATTTATGA... |
Task1_train_6253 | Chromosome 3 houses a mutation in gene BTD (biotinidase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Inborn genetic diseases | AGATAGGAGGATGGCTTGAGCCTGGGAGGCGGAAGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACCCTGCCTCAAAAAAAAAAGAAAAAGAAGAATCTTTTGAATTTTTGCCAGTCTTATGAAGGTGAGAAATGATAGCTATTTCATTGTTGTAATTTGCACTTCTCTCTCACTAATGAGATTGAGCATCTTTTGAGATGTTTGTGGGTCACTTTTCTTTGTCCTTCTGTGAATCACCTGTTTATATCCTTTGCACATTTTCAGTAGTGGTTGCTTTTTTCTTATTGATTTATGA... | AGATAGGAGGATGGCTTGAGCCTGGGAGGCGGAAGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACCCTGCCTCAAAAAAAAAAGAAAAAGAAGAATCTTTTGAATTTTTGCCAGTCTTATGAAGGTGAGAAATGATAGCTATTTCATTGTTGTAATTTGCACTTCTCTCTCACTAATGAGATTGAGCATCTTTTGAGATGTTTGTGGGTCACTTTTCTTTGTCCTTCTGTGAATCACCTGTTTATATCCTTTGCACATTTTCAGTAGTGGTTGCTTTTTTCTTATTGATTTATGA... |
Task1_train_6254 | This genomic variant is located on Chromosome 3, within the BTD (biotinidase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Biotinidase deficiency | GAGGATGGCTTGAGCCTGGGAGGCGGAAGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACCCTGCCTCAAAAAAAAAAGAAAAAGAAGAATCTTTTGAATTTTTGCCAGTCTTATGAAGGTGAGAAATGATAGCTATTTCATTGTTGTAATTTGCACTTCTCTCTCACTAATGAGATTGAGCATCTTTTGAGATGTTTGTGGGTCACTTTTCTTTGTCCTTCTGTGAATCACCTGTTTATATCCTTTGCACATTTTCAGTAGTGGTTGCTTTTTTCTTATTGATTTATGATAGCTG... | GAGGATGGCTTGAGCCTGGGAGGCGGAAGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACCCTGCCTCAAAAAAAAAAGAAAAAGAAGAATCTTTTGAATTTTTGCCAGTCTTATGAAGGTGAGAAATGATAGCTATTTCATTGTTGTAATTTGCACTTCTCTCTCACTAATGAGATTGAGCATCTTTTGAGATGTTTGTGGGTCACTTTTCTTTGTCCTTCTGTGAATCACCTGTTTATATCCTTTGCACATTTTCAGTAGTGGTTGCTTTTTTCTTATTGATTTATGATAGCTG... |
Task1_train_6255 | This genomic variant is located on Chromosome 3, within the SATB1 (SATB homeobox 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Kohlschutter-Tonz syndrome-like | GTAAAGTAATTCTCTGCTCAGAGCCCTGTCAGTGGTGACTTCAGGAGCAAAGTTAACTAATAAAAGTGTGTGTATTAACACTAAACACTACAGAAAAAGTACCAAACCAAATTATTTTATTTCATTTCGTATATTTTTTCTTTTTTATCATTCCTAGAAGTCATAGTTTATCTTTTCTCTTTAACCATACTTAGAAGTCATATTTTTTATACATAAAGAGTTCCTCATTCTTTATCTTAGGAAATATTTTATAGAAGCATTTAGAGATCAAATTCAATAACTTTGTGTGCGTGGGCAGGTGGGTGTGTACATACGTATAT... | GTAAAGTAATTCTCTGCTCAGAGCCCTGTCAGTGGTGACTTCAGGAGCAAAGTTAACTAATAAAAGTGTGTGTATTAACACTAAACACTACAGAAAAAGTACCAAACCAAATTATTTTATTTCATTTCGTATATTTTTTCTTTTTTATCATTCCTAGAAGTCATAGTTTATCTTTTCTCTTTAACCATACTTAGAAGTCATATTTTTTATACATAAAGAGTTCCTCATTCTTTATCTTAGGAAATATTTTATAGAAGCATTTAGAGATCAAATTCAATAACTTTGTGTGCGTGGGCAGGTGGGTGTGTACATACGTATAT... |
Task1_train_6256 | Given this context: Chromosome 3, gene SATB1 (SATB homeobox 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Developmental delay with dysmorphic facies and dental anomalies | TAAAGTAATTCTCTGCTCAGAGCCCTGTCAGTGGTGACTTCAGGAGCAAAGTTAACTAATAAAAGTGTGTGTATTAACACTAAACACTACAGAAAAAGTACCAAACCAAATTATTTTATTTCATTTCGTATATTTTTTCTTTTTTATCATTCCTAGAAGTCATAGTTTATCTTTTCTCTTTAACCATACTTAGAAGTCATATTTTTTATACATAAAGAGTTCCTCATTCTTTATCTTAGGAAATATTTTATAGAAGCATTTAGAGATCAAATTCAATAACTTTGTGTGCGTGGGCAGGTGGGTGTGTACATACGTATATA... | TAAAGTAATTCTCTGCTCAGAGCCCTGTCAGTGGTGACTTCAGGAGCAAAGTTAACTAATAAAAGTGTGTGTATTAACACTAAACACTACAGAAAAAGTACCAAACCAAATTATTTTATTTCATTTCGTATATTTTTTCTTTTTTATCATTCCTAGAAGTCATAGTTTATCTTTTCTCTTTAACCATACTTAGAAGTCATATTTTTTATACATAAAGAGTTCCTCATTCTTTATCTTAGGAAATATTTTATAGAAGCATTTAGAGATCAAATTCAATAACTTTGTGTGCGTGGGCAGGTGGGTGTGTACATACGTATATA... |
Task1_train_6257 | The gene SATB1 (SATB homeobox 1), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Kohlschutter-Tonz syndrome-like | TAAAGTAATTCTCTGCTCAGAGCCCTGTCAGTGGTGACTTCAGGAGCAAAGTTAACTAATAAAAGTGTGTGTATTAACACTAAACACTACAGAAAAAGTACCAAACCAAATTATTTTATTTCATTTCGTATATTTTTTCTTTTTTATCATTCCTAGAAGTCATAGTTTATCTTTTCTCTTTAACCATACTTAGAAGTCATATTTTTTATACATAAAGAGTTCCTCATTCTTTATCTTAGGAAATATTTTATAGAAGCATTTAGAGATCAAATTCAATAACTTTGTGTGCGTGGGCAGGTGGGTGTGTACATACGTATATA... | TAAAGTAATTCTCTGCTCAGAGCCCTGTCAGTGGTGACTTCAGGAGCAAAGTTAACTAATAAAAGTGTGTGTATTAACACTAAACACTACAGAAAAAGTACCAAACCAAATTATTTTATTTCATTTCGTATATTTTTTCTTTTTTATCATTCCTAGAAGTCATAGTTTATCTTTTCTCTTTAACCATACTTAGAAGTCATATTTTTTATACATAAAGAGTTCCTCATTCTTTATCTTAGGAAATATTTTATAGAAGCATTTAGAGATCAAATTCAATAACTTTGTGTGCGTGGGCAGGTGGGTGTGTACATACGTATATA... |
Task1_train_6258 | Here’s a variant in SATB1 (SATB homeobox 1) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | GATGGGTGACAACTTTATCCTCACTTCTCTGAGTTCTACTGTCTTAGCATTCTTCACTATATAAAGGACACTTACTTAGTGCTTTAAGAAATAACTGCTCAATTTTTAAGACACCAGTAACTATATATATACACATATATACATATATATACACACACATACACACACACATATATATACACATATATATACATATATATATAATTTGTGTCTATGTCATGATGTCTTTGTGGGCTTTTAACTCAATTCAAAAAAGCATTATTGAAATGTTATGTAGAGACCTACTTTTTTTGGCCTAGTACGGAGAATTATTAGTACTT... | GATGGGTGACAACTTTATCCTCACTTCTCTGAGTTCTACTGTCTTAGCATTCTTCACTATATAAAGGACACTTACTTAGTGCTTTAAGAAATAACTGCTCAATTTTTAAGACACCAGTAACTATATATATACACATATATACATATATATACACACACATACACACACACATATATATACACATATATATACATATATATATAATTTGTGTCTATGTCATGATGTCTTTGTGGGCTTTTAACTCAATTCAAAAAAGCATTATTGAAATGTTATGTAGAGACCTACTTTTTTTGGCCTAGTACGGAGAATTATTAGTACTT... |
Task1_train_6259 | A variant on Chromosome 3 in gene SGO1, SGO1-AS1 (shugoshin 1| SGO1 antisense RNA 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Chronic atrial and intestinal dysrhythmia | TCTCTACTAAAAATATAAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCAGGAGGCAGGGGCTCCAGTGAGCTGAGATTGCACCACTGTACTCCACCCTGGGTGACAGAGCAAGACTCTGTCTCAAGAAAAAAAAAAGAAAAAAAAACATAAAGTTCCCGTGAAGAAAACATATCTAATCTTTATAGAGGCAGTTCTCAAATATACCATATATGTACTTATTGTCTATGTGTGTATATATGTATATATTACATGTATCTTAATCACATGGAGAA... | TCTCTACTAAAAATATAAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCAGGAGGCAGGGGCTCCAGTGAGCTGAGATTGCACCACTGTACTCCACCCTGGGTGACAGAGCAAGACTCTGTCTCAAGAAAAAAAAAAGAAAAAAAAACATAAAGTTCCCGTGAAGAAAACATATCTAATCTTTATAGAGGCAGTTCTCAAATATACCATATATGTACTTATTGTCTATGTGTGTATATATGTATATATTACATGTATCTTAATCACATGGAGAA... |
Task1_train_6260 | Gene NKIRAS1, RPL15 (NFKB inhibitor interacting Ras like 1| ribosomal protein L15) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Diamond-Blackfan anemia 12 | TAACCTGGACACTCCATTCCAAATTGCAACCCTCAGCCGCTAACACTCCCTCATCACTTCCCTCCCCTTATCTTTTTTCCTTAGCATTTACCACCAAACCCAAAACACAGCTTACTTCTGCTTACTGCCCATTTCCAAGAAGGCCAAAAATTCTGCGTTGTTTCCTGCTGCATCCCCAGCAACTATGCCTGGCACATATTAGACACTTAATAAATATTTGTTGAATCAATCAATGAACCAGATAGAGACTCTTAAAAACGTAAAGCTGTGATTTAAAAAGAAAGAAAGAAAAATATGATGTGGGAAAAAAGATAATCAAA... | TAACCTGGACACTCCATTCCAAATTGCAACCCTCAGCCGCTAACACTCCCTCATCACTTCCCTCCCCTTATCTTTTTTCCTTAGCATTTACCACCAAACCCAAAACACAGCTTACTTCTGCTTACTGCCCATTTCCAAGAAGGCCAAAAATTCTGCGTTGTTTCCTGCTGCATCCCCAGCAACTATGCCTGGCACATATTAGACACTTAATAAATATTTGTTGAATCAATCAATGAACCAGATAGAGACTCTTAAAAACGTAAAGCTGTGATTTAAAAAGAAAGAAAGAAAAATATGATGTGGGAAAAAAGATAATCAAA... |
Task1_train_6261 | Consider this mutation in NKIRAS1, RPL15 (NFKB inhibitor interacting Ras like 1| ribosomal protein L15) on Chromosome 3. Is this a benign change or a disease-causing variant? | Pathogenic; Diamond-Blackfan anemia 12 | GTCAGGATGCGGGACAGCAAAGGGGTGGAGAGGCGGCCCCCGGGGCGGGTTGAGCGAAGATGTGATGGCGGCGCGAATTCGAGCTGGGCCCGGATCCTGGAGGAGGCGTGGGGCTGACGAATGGGGCGCCCGGGACAAGGCAGCCTAAAGTGAGGCTGCTGGTTGGGTGGGGTAGATGCATTTTCCTCGAGAGTTAATCCTCGGTGGCCGCAGCAGTACCTTGTCCTGTGATGTCAGCGGCATCTCCTTTCAGGTCCTCCTTGGGGACGCCGCCTGCCGCAGCCACCCGCCCCCTTGGTGCTCAGTTCTGGTTCTGTTAA... | GTCAGGATGCGGGACAGCAAAGGGGTGGAGAGGCGGCCCCCGGGGCGGGTTGAGCGAAGATGTGATGGCGGCGCGAATTCGAGCTGGGCCCGGATCCTGGAGGAGGCGTGGGGCTGACGAATGGGGCGCCCGGGACAAGGCAGCCTAAAGTGAGGCTGCTGGTTGGGTGGGGTAGATGCATTTTCCTCGAGAGTTAATCCTCGGTGGCCGCAGCAGTACCTTGTCCTGTGATGTCAGCGGCATCTCCTTTCAGGTCCTCCTTGGGGACGCCGCCTGCCGCAGCCACCCGCCCCCTTGGTGCTCAGTTCTGGTTCTGTTAA... |
Task1_train_6262 | A variant has been detected on Chromosome 3 in THRB (thyroid hormone receptor beta). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Generalized resistance to thyroid hormone | AGTTCCATAGCAATGTTCTTGTTTCCTTTTTCCCAGAAGCCAGTACAATTGCTTTCATGCATTGAATATTTAATTCCCCGCTCCCAGATAATTTCCAATCATACTTGGAATTTTCAGTGCTGTTCCTCTTCTTTTTCCAAGGCCTCTAAATGGTTGACTAGTATTGTGTCAAATTATTATTTCGAGCCAATAACAAATTTACGTTCCTTAACTGTTAAGTGGGCCATACTTCTTGTCTAATAAAGTTAGGAATTTAAGTGTTAAAAAAAAATAATTAAAGGAACCAGATTTTTTTTTTCCCCTTGAAATTCAGACAATAT... | AGTTCCATAGCAATGTTCTTGTTTCCTTTTTCCCAGAAGCCAGTACAATTGCTTTCATGCATTGAATATTTAATTCCCCGCTCCCAGATAATTTCCAATCATACTTGGAATTTTCAGTGCTGTTCCTCTTCTTTTTCCAAGGCCTCTAAATGGTTGACTAGTATTGTGTCAAATTATTATTTCGAGCCAATAACAAATTTACGTTCCTTAACTGTTAAGTGGGCCATACTTCTTGTCTAATAAAGTTAGGAATTTAAGTGTTAAAAAAAAATAATTAAAGGAACCAGATTTTTTTTTTCCCCTTGAAATTCAGACAATAT... |
Task1_train_6263 | Located on Chromosome 3, this mutation impacts THRB (thyroid hormone receptor beta). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Thyroid hormone resistance, generalized, autosomal dominant | TTGTTTCCTTTTTCCCAGAAGCCAGTACAATTGCTTTCATGCATTGAATATTTAATTCCCCGCTCCCAGATAATTTCCAATCATACTTGGAATTTTCAGTGCTGTTCCTCTTCTTTTTCCAAGGCCTCTAAATGGTTGACTAGTATTGTGTCAAATTATTATTTCGAGCCAATAACAAATTTACGTTCCTTAACTGTTAAGTGGGCCATACTTCTTGTCTAATAAAGTTAGGAATTTAAGTGTTAAAAAAAAATAATTAAAGGAACCAGATTTTTTTTTTCCCCTTGAAATTCAGACAATATTAAGGGCAGGAAGGGTTT... | TTGTTTCCTTTTTCCCAGAAGCCAGTACAATTGCTTTCATGCATTGAATATTTAATTCCCCGCTCCCAGATAATTTCCAATCATACTTGGAATTTTCAGTGCTGTTCCTCTTCTTTTTCCAAGGCCTCTAAATGGTTGACTAGTATTGTGTCAAATTATTATTTCGAGCCAATAACAAATTTACGTTCCTTAACTGTTAAGTGGGCCATACTTCTTGTCTAATAAAGTTAGGAATTTAAGTGTTAAAAAAAAATAATTAAAGGAACCAGATTTTTTTTTTCCCCTTGAAATTCAGACAATATTAAGGGCAGGAAGGGTTT... |
Task1_train_6264 | This sequence variant lies in THRB (thyroid hormone receptor beta) on Chromosome 3. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Thyroid hormone resistance, generalized, autosomal dominant | TGTTTCCTTTTTCCCAGAAGCCAGTACAATTGCTTTCATGCATTGAATATTTAATTCCCCGCTCCCAGATAATTTCCAATCATACTTGGAATTTTCAGTGCTGTTCCTCTTCTTTTTCCAAGGCCTCTAAATGGTTGACTAGTATTGTGTCAAATTATTATTTCGAGCCAATAACAAATTTACGTTCCTTAACTGTTAAGTGGGCCATACTTCTTGTCTAATAAAGTTAGGAATTTAAGTGTTAAAAAAAAATAATTAAAGGAACCAGATTTTTTTTTTCCCCTTGAAATTCAGACAATATTAAGGGCAGGAAGGGTTTT... | TGTTTCCTTTTTCCCAGAAGCCAGTACAATTGCTTTCATGCATTGAATATTTAATTCCCCGCTCCCAGATAATTTCCAATCATACTTGGAATTTTCAGTGCTGTTCCTCTTCTTTTTCCAAGGCCTCTAAATGGTTGACTAGTATTGTGTCAAATTATTATTTCGAGCCAATAACAAATTTACGTTCCTTAACTGTTAAGTGGGCCATACTTCTTGTCTAATAAAGTTAGGAATTTAAGTGTTAAAAAAAAATAATTAAAGGAACCAGATTTTTTTTTTCCCCTTGAAATTCAGACAATATTAAGGGCAGGAAGGGTTTT... |
Task1_train_6265 | The gene THRB (thyroid hormone receptor beta) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Thyroid hormone resistance, generalized, autosomal dominant | TGTTTCCTTTTTCCCAGAAGCCAGTACAATTGCTTTCATGCATTGAATATTTAATTCCCCGCTCCCAGATAATTTCCAATCATACTTGGAATTTTCAGTGCTGTTCCTCTTCTTTTTCCAAGGCCTCTAAATGGTTGACTAGTATTGTGTCAAATTATTATTTCGAGCCAATAACAAATTTACGTTCCTTAACTGTTAAGTGGGCCATACTTCTTGTCTAATAAAGTTAGGAATTTAAGTGTTAAAAAAAAATAATTAAAGGAACCAGATTTTTTTTTTCCCCTTGAAATTCAGACAATATTAAGGGCAGGAAGGGTTTT... | TGTTTCCTTTTTCCCAGAAGCCAGTACAATTGCTTTCATGCATTGAATATTTAATTCCCCGCTCCCAGATAATTTCCAATCATACTTGGAATTTTCAGTGCTGTTCCTCTTCTTTTTCCAAGGCCTCTAAATGGTTGACTAGTATTGTGTCAAATTATTATTTCGAGCCAATAACAAATTTACGTTCCTTAACTGTTAAGTGGGCCATACTTCTTGTCTAATAAAGTTAGGAATTTAAGTGTTAAAAAAAAATAATTAAAGGAACCAGATTTTTTTTTTCCCCTTGAAATTCAGACAATATTAAGGGCAGGAAGGGTTTT... |
Task1_train_6266 | This alteration occurs within gene THRB (thyroid hormone receptor beta) located on Chromosome 3. Is it associated with a disease or is it a benign variant? | Pathogenic; Generalized resistance to thyroid hormone | TTTTCCCAGAAGCCAGTACAATTGCTTTCATGCATTGAATATTTAATTCCCCGCTCCCAGATAATTTCCAATCATACTTGGAATTTTCAGTGCTGTTCCTCTTCTTTTTCCAAGGCCTCTAAATGGTTGACTAGTATTGTGTCAAATTATTATTTCGAGCCAATAACAAATTTACGTTCCTTAACTGTTAAGTGGGCCATACTTCTTGTCTAATAAAGTTAGGAATTTAAGTGTTAAAAAAAAATAATTAAAGGAACCAGATTTTTTTTTTCCCCTTGAAATTCAGACAATATTAAGGGCAGGAAGGGTTTTAGAGATCA... | TTTTCCCAGAAGCCAGTACAATTGCTTTCATGCATTGAATATTTAATTCCCCGCTCCCAGATAATTTCCAATCATACTTGGAATTTTCAGTGCTGTTCCTCTTCTTTTTCCAAGGCCTCTAAATGGTTGACTAGTATTGTGTCAAATTATTATTTCGAGCCAATAACAAATTTACGTTCCTTAACTGTTAAGTGGGCCATACTTCTTGTCTAATAAAGTTAGGAATTTAAGTGTTAAAAAAAAATAATTAAAGGAACCAGATTTTTTTTTTCCCCTTGAAATTCAGACAATATTAAGGGCAGGAAGGGTTTTAGAGATCA... |
Task1_train_6267 | The gene THRB (thyroid hormone receptor beta) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Thyroid hormone resistance, generalized, autosomal dominant | TTTCCCAGAAGCCAGTACAATTGCTTTCATGCATTGAATATTTAATTCCCCGCTCCCAGATAATTTCCAATCATACTTGGAATTTTCAGTGCTGTTCCTCTTCTTTTTCCAAGGCCTCTAAATGGTTGACTAGTATTGTGTCAAATTATTATTTCGAGCCAATAACAAATTTACGTTCCTTAACTGTTAAGTGGGCCATACTTCTTGTCTAATAAAGTTAGGAATTTAAGTGTTAAAAAAAAATAATTAAAGGAACCAGATTTTTTTTTTCCCCTTGAAATTCAGACAATATTAAGGGCAGGAAGGGTTTTAGAGATCAT... | TTTCCCAGAAGCCAGTACAATTGCTTTCATGCATTGAATATTTAATTCCCCGCTCCCAGATAATTTCCAATCATACTTGGAATTTTCAGTGCTGTTCCTCTTCTTTTTCCAAGGCCTCTAAATGGTTGACTAGTATTGTGTCAAATTATTATTTCGAGCCAATAACAAATTTACGTTCCTTAACTGTTAAGTGGGCCATACTTCTTGTCTAATAAAGTTAGGAATTTAAGTGTTAAAAAAAAATAATTAAAGGAACCAGATTTTTTTTTTCCCCTTGAAATTCAGACAATATTAAGGGCAGGAAGGGTTTTAGAGATCAT... |
Task1_train_6268 | Gene THRB (thyroid hormone receptor beta) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; not provided | CAGTACAATTGCTTTCATGCATTGAATATTTAATTCCCCGCTCCCAGATAATTTCCAATCATACTTGGAATTTTCAGTGCTGTTCCTCTTCTTTTTCCAAGGCCTCTAAATGGTTGACTAGTATTGTGTCAAATTATTATTTCGAGCCAATAACAAATTTACGTTCCTTAACTGTTAAGTGGGCCATACTTCTTGTCTAATAAAGTTAGGAATTTAAGTGTTAAAAAAAAATAATTAAAGGAACCAGATTTTTTTTTTCCCCTTGAAATTCAGACAATATTAAGGGCAGGAAGGGTTTTAGAGATCATGACTTATTCACC... | CAGTACAATTGCTTTCATGCATTGAATATTTAATTCCCCGCTCCCAGATAATTTCCAATCATACTTGGAATTTTCAGTGCTGTTCCTCTTCTTTTTCCAAGGCCTCTAAATGGTTGACTAGTATTGTGTCAAATTATTATTTCGAGCCAATAACAAATTTACGTTCCTTAACTGTTAAGTGGGCCATACTTCTTGTCTAATAAAGTTAGGAATTTAAGTGTTAAAAAAAAATAATTAAAGGAACCAGATTTTTTTTTTCCCCTTGAAATTCAGACAATATTAAGGGCAGGAAGGGTTTTAGAGATCATGACTTATTCACC... |
Task1_train_6269 | This sequence change occurs on Chromosome 3, altering THRB (thyroid hormone receptor beta). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Thyroid hormone resistance, generalized, autosomal dominant | TGCTTTCATGCATTGAATATTTAATTCCCCGCTCCCAGATAATTTCCAATCATACTTGGAATTTTCAGTGCTGTTCCTCTTCTTTTTCCAAGGCCTCTAAATGGTTGACTAGTATTGTGTCAAATTATTATTTCGAGCCAATAACAAATTTACGTTCCTTAACTGTTAAGTGGGCCATACTTCTTGTCTAATAAAGTTAGGAATTTAAGTGTTAAAAAAAAATAATTAAAGGAACCAGATTTTTTTTTTCCCCTTGAAATTCAGACAATATTAAGGGCAGGAAGGGTTTTAGAGATCATGACTTATTCACCAGGTAAGAA... | TGCTTTCATGCATTGAATATTTAATTCCCCGCTCCCAGATAATTTCCAATCATACTTGGAATTTTCAGTGCTGTTCCTCTTCTTTTTCCAAGGCCTCTAAATGGTTGACTAGTATTGTGTCAAATTATTATTTCGAGCCAATAACAAATTTACGTTCCTTAACTGTTAAGTGGGCCATACTTCTTGTCTAATAAAGTTAGGAATTTAAGTGTTAAAAAAAAATAATTAAAGGAACCAGATTTTTTTTTTCCCCTTGAAATTCAGACAATATTAAGGGCAGGAAGGGTTTTAGAGATCATGACTTATTCACCAGGTAAGAA... |
Task1_train_6270 | Given this context: Chromosome 3, gene THRB (thyroid hormone receptor beta) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Thyroid hormone resistance, generalized, autosomal dominant | GAATATTTAATTCCCCGCTCCCAGATAATTTCCAATCATACTTGGAATTTTCAGTGCTGTTCCTCTTCTTTTTCCAAGGCCTCTAAATGGTTGACTAGTATTGTGTCAAATTATTATTTCGAGCCAATAACAAATTTACGTTCCTTAACTGTTAAGTGGGCCATACTTCTTGTCTAATAAAGTTAGGAATTTAAGTGTTAAAAAAAAATAATTAAAGGAACCAGATTTTTTTTTTCCCCTTGAAATTCAGACAATATTAAGGGCAGGAAGGGTTTTAGAGATCATGACTTATTCACCAGGTAAGAAAACCAAGACCTAGA... | GAATATTTAATTCCCCGCTCCCAGATAATTTCCAATCATACTTGGAATTTTCAGTGCTGTTCCTCTTCTTTTTCCAAGGCCTCTAAATGGTTGACTAGTATTGTGTCAAATTATTATTTCGAGCCAATAACAAATTTACGTTCCTTAACTGTTAAGTGGGCCATACTTCTTGTCTAATAAAGTTAGGAATTTAAGTGTTAAAAAAAAATAATTAAAGGAACCAGATTTTTTTTTTCCCCTTGAAATTCAGACAATATTAAGGGCAGGAAGGGTTTTAGAGATCATGACTTATTCACCAGGTAAGAAAACCAAGACCTAGA... |
Task1_train_6271 | This alteration occurs within gene THRB (thyroid hormone receptor beta) located on Chromosome 3. Is it associated with a disease or is it a benign variant? | Pathogenic; not specified | GAATATTTAATTCCCCGCTCCCAGATAATTTCCAATCATACTTGGAATTTTCAGTGCTGTTCCTCTTCTTTTTCCAAGGCCTCTAAATGGTTGACTAGTATTGTGTCAAATTATTATTTCGAGCCAATAACAAATTTACGTTCCTTAACTGTTAAGTGGGCCATACTTCTTGTCTAATAAAGTTAGGAATTTAAGTGTTAAAAAAAAATAATTAAAGGAACCAGATTTTTTTTTTCCCCTTGAAATTCAGACAATATTAAGGGCAGGAAGGGTTTTAGAGATCATGACTTATTCACCAGGTAAGAAAACCAAGACCTAGA... | GAATATTTAATTCCCCGCTCCCAGATAATTTCCAATCATACTTGGAATTTTCAGTGCTGTTCCTCTTCTTTTTCCAAGGCCTCTAAATGGTTGACTAGTATTGTGTCAAATTATTATTTCGAGCCAATAACAAATTTACGTTCCTTAACTGTTAAGTGGGCCATACTTCTTGTCTAATAAAGTTAGGAATTTAAGTGTTAAAAAAAAATAATTAAAGGAACCAGATTTTTTTTTTCCCCTTGAAATTCAGACAATATTAAGGGCAGGAAGGGTTTTAGAGATCATGACTTATTCACCAGGTAAGAAAACCAAGACCTAGA... |
Task1_train_6272 | This mutation is located in gene THRB (thyroid hormone receptor beta) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Thyroid hormone resistance syndrome | AATTCCCCGCTCCCAGATAATTTCCAATCATACTTGGAATTTTCAGTGCTGTTCCTCTTCTTTTTCCAAGGCCTCTAAATGGTTGACTAGTATTGTGTCAAATTATTATTTCGAGCCAATAACAAATTTACGTTCCTTAACTGTTAAGTGGGCCATACTTCTTGTCTAATAAAGTTAGGAATTTAAGTGTTAAAAAAAAATAATTAAAGGAACCAGATTTTTTTTTTCCCCTTGAAATTCAGACAATATTAAGGGCAGGAAGGGTTTTAGAGATCATGACTTATTCACCAGGTAAGAAAACCAAGACCTAGAATTACAAA... | AATTCCCCGCTCCCAGATAATTTCCAATCATACTTGGAATTTTCAGTGCTGTTCCTCTTCTTTTTCCAAGGCCTCTAAATGGTTGACTAGTATTGTGTCAAATTATTATTTCGAGCCAATAACAAATTTACGTTCCTTAACTGTTAAGTGGGCCATACTTCTTGTCTAATAAAGTTAGGAATTTAAGTGTTAAAAAAAAATAATTAAAGGAACCAGATTTTTTTTTTCCCCTTGAAATTCAGACAATATTAAGGGCAGGAAGGGTTTTAGAGATCATGACTTATTCACCAGGTAAGAAAACCAAGACCTAGAATTACAAA... |
Task1_train_6273 | A mutation on Chromosome 3 affecting THRB (thyroid hormone receptor beta) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Thyroid hormone resistance, generalized, autosomal dominant | AATTCCCCGCTCCCAGATAATTTCCAATCATACTTGGAATTTTCAGTGCTGTTCCTCTTCTTTTTCCAAGGCCTCTAAATGGTTGACTAGTATTGTGTCAAATTATTATTTCGAGCCAATAACAAATTTACGTTCCTTAACTGTTAAGTGGGCCATACTTCTTGTCTAATAAAGTTAGGAATTTAAGTGTTAAAAAAAAATAATTAAAGGAACCAGATTTTTTTTTTCCCCTTGAAATTCAGACAATATTAAGGGCAGGAAGGGTTTTAGAGATCATGACTTATTCACCAGGTAAGAAAACCAAGACCTAGAATTACAAA... | AATTCCCCGCTCCCAGATAATTTCCAATCATACTTGGAATTTTCAGTGCTGTTCCTCTTCTTTTTCCAAGGCCTCTAAATGGTTGACTAGTATTGTGTCAAATTATTATTTCGAGCCAATAACAAATTTACGTTCCTTAACTGTTAAGTGGGCCATACTTCTTGTCTAATAAAGTTAGGAATTTAAGTGTTAAAAAAAAATAATTAAAGGAACCAGATTTTTTTTTTCCCCTTGAAATTCAGACAATATTAAGGGCAGGAAGGGTTTTAGAGATCATGACTTATTCACCAGGTAAGAAAACCAAGACCTAGAATTACAAA... |
Task1_train_6274 | This variant affects gene THRB (thyroid hormone receptor beta) located on Chromosome 3. Evaluate its biological effect and specify any disease association. | Pathogenic; Thyroid hormone resistance, generalized, autosomal dominant | ATTTCCAATCATACTTGGAATTTTCAGTGCTGTTCCTCTTCTTTTTCCAAGGCCTCTAAATGGTTGACTAGTATTGTGTCAAATTATTATTTCGAGCCAATAACAAATTTACGTTCCTTAACTGTTAAGTGGGCCATACTTCTTGTCTAATAAAGTTAGGAATTTAAGTGTTAAAAAAAAATAATTAAAGGAACCAGATTTTTTTTTTCCCCTTGAAATTCAGACAATATTAAGGGCAGGAAGGGTTTTAGAGATCATGACTTATTCACCAGGTAAGAAAACCAAGACCTAGAATTACAAATCTACCAGTTGACAGAGCA... | ATTTCCAATCATACTTGGAATTTTCAGTGCTGTTCCTCTTCTTTTTCCAAGGCCTCTAAATGGTTGACTAGTATTGTGTCAAATTATTATTTCGAGCCAATAACAAATTTACGTTCCTTAACTGTTAAGTGGGCCATACTTCTTGTCTAATAAAGTTAGGAATTTAAGTGTTAAAAAAAAATAATTAAAGGAACCAGATTTTTTTTTTCCCCTTGAAATTCAGACAATATTAAGGGCAGGAAGGGTTTTAGAGATCATGACTTATTCACCAGGTAAGAAAACCAAGACCTAGAATTACAAATCTACCAGTTGACAGAGCA... |
Task1_train_6275 | The gene THRB (thyroid hormone receptor beta) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Thyroid hormone resistance, generalized, autosomal dominant | CTTCTTGTCTAATAAAGTTAGGAATTTAAGTGTTAAAAAAAAATAATTAAAGGAACCAGATTTTTTTTTTCCCCTTGAAATTCAGACAATATTAAGGGCAGGAAGGGTTTTAGAGATCATGACTTATTCACCAGGTAAGAAAACCAAGACCTAGAATTACAAATCTACCAGTTGACAGAGCACGAACTAGAACTCAGGCACCCAGACTTCTGGGCCAGTTATGCTCCACCAAACTTACAAAAAGCATCTACTTGGTTTCCATAGTGACTTTCCTTCCTTTGTTTTTAGGTAAATCTCACTGATATGGCTTATTTTCCCCA... | CTTCTTGTCTAATAAAGTTAGGAATTTAAGTGTTAAAAAAAAATAATTAAAGGAACCAGATTTTTTTTTTCCCCTTGAAATTCAGACAATATTAAGGGCAGGAAGGGTTTTAGAGATCATGACTTATTCACCAGGTAAGAAAACCAAGACCTAGAATTACAAATCTACCAGTTGACAGAGCACGAACTAGAACTCAGGCACCCAGACTTCTGGGCCAGTTATGCTCCACCAAACTTACAAAAAGCATCTACTTGGTTTCCATAGTGACTTTCCTTCCTTTGTTTTTAGGTAAATCTCACTGATATGGCTTATTTTCCCCA... |
Task1_train_6276 | Given a variant located on Chromosome 3 and affecting THRB (thyroid hormone receptor beta), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Thyroid hormone resistance, generalized, autosomal dominant | GGGTCACCCAAAGTCACACAAGGAGTCCTTGGATAAGCTATAAATTTTATTTCTTTGAGACTAATTCTCCTGAACGACTGTGGGCCCCATTTCTTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACAC... | GGGTCACCCAAAGTCACACAAGGAGTCCTTGGATAAGCTATAAATTTTATTTCTTTGAGACTAATTCTCCTGAACGACTGTGGGCCCCATTTCTTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACAC... |
Task1_train_6277 | Given this variant in gene THRB (thyroid hormone receptor beta) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | CCCAAAGTCACACAAGGAGTCCTTGGATAAGCTATAAATTTTATTTCTTTGAGACTAATTCTCCTGAACGACTGTGGGCCCCATTTCTTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGG... | CCCAAAGTCACACAAGGAGTCCTTGGATAAGCTATAAATTTTATTTCTTTGAGACTAATTCTCCTGAACGACTGTGGGCCCCATTTCTTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGG... |
Task1_train_6278 | Consider this mutation in THRB (thyroid hormone receptor beta) on Chromosome 3. Is this a benign change or a disease-causing variant? | Pathogenic; Generalized resistance to thyroid hormone | CCCAAAGTCACACAAGGAGTCCTTGGATAAGCTATAAATTTTATTTCTTTGAGACTAATTCTCCTGAACGACTGTGGGCCCCATTTCTTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGG... | CCCAAAGTCACACAAGGAGTCCTTGGATAAGCTATAAATTTTATTTCTTTGAGACTAATTCTCCTGAACGACTGTGGGCCCCATTTCTTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGG... |
Task1_train_6279 | The gene THRB (thyroid hormone receptor beta), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Thyroid hormone resistance, generalized, autosomal dominant | CCAAAGTCACACAAGGAGTCCTTGGATAAGCTATAAATTTTATTTCTTTGAGACTAATTCTCCTGAACGACTGTGGGCCCCATTTCTTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGA... | CCAAAGTCACACAAGGAGTCCTTGGATAAGCTATAAATTTTATTTCTTTGAGACTAATTCTCCTGAACGACTGTGGGCCCCATTTCTTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGA... |
Task1_train_6280 | Given this context: Chromosome 3, gene THRB (thyroid hormone receptor beta) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Thyroid hormone resistance, generalized, autosomal dominant | CCAAAGTCACACAAGGAGTCCTTGGATAAGCTATAAATTTTATTTCTTTGAGACTAATTCTCCTGAACGACTGTGGGCCCCATTTCTTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGA... | CCAAAGTCACACAAGGAGTCCTTGGATAAGCTATAAATTTTATTTCTTTGAGACTAATTCTCCTGAACGACTGTGGGCCCCATTTCTTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGA... |
Task1_train_6281 | A sequence alteration has been identified in THRB (thyroid hormone receptor beta) on Chromosome 3. Is it disease-inducing or harmless? | Pathogenic; Thyroid hormone resistance, generalized, autosomal dominant | AAAGTCACACAAGGAGTCCTTGGATAAGCTATAAATTTTATTTCTTTGAGACTAATTCTCCTGAACGACTGTGGGCCCCATTTCTTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGACA... | AAAGTCACACAAGGAGTCCTTGGATAAGCTATAAATTTTATTTCTTTGAGACTAATTCTCCTGAACGACTGTGGGCCCCATTTCTTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGACA... |
Task1_train_6282 | Here is a genetic alteration in THRB (thyroid hormone receptor beta) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Thyroid hormone resistance, generalized, autosomal dominant | AGGAGTCCTTGGATAAGCTATAAATTTTATTTCTTTGAGACTAATTCTCCTGAACGACTGTGGGCCCCATTTCTTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGACAGGAGATTATCC... | AGGAGTCCTTGGATAAGCTATAAATTTTATTTCTTTGAGACTAATTCTCCTGAACGACTGTGGGCCCCATTTCTTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGACAGGAGATTATCC... |
Task1_train_6283 | The gene THRB (thyroid hormone receptor beta) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Thyroid hormone resistance, generalized, autosomal dominant | TTGGATAAGCTATAAATTTTATTTCTTTGAGACTAATTCTCCTGAACGACTGTGGGCCCCATTTCTTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGACAGGAGATTATCCAAGGTGTG... | TTGGATAAGCTATAAATTTTATTTCTTTGAGACTAATTCTCCTGAACGACTGTGGGCCCCATTTCTTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGACAGGAGATTATCCAAGGTGTG... |
Task1_train_6284 | This sequence change occurs on Chromosome 3, altering THRB (thyroid hormone receptor beta). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Thyroid hormone resistance, generalized, autosomal recessive | TTGGATAAGCTATAAATTTTATTTCTTTGAGACTAATTCTCCTGAACGACTGTGGGCCCCATTTCTTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGACAGGAGATTATCCAAGGTGTG... | TTGGATAAGCTATAAATTTTATTTCTTTGAGACTAATTCTCCTGAACGACTGTGGGCCCCATTTCTTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGACAGGAGATTATCCAAGGTGTG... |
Task1_train_6285 | Consider a variant on Chromosome 3 in gene THRB (thyroid hormone receptor beta). Determine its clinical classification and disease relevance. | Pathogenic; Thyroid hormone resistance, generalized, autosomal dominant | TTGGATAAGCTATAAATTTTATTTCTTTGAGACTAATTCTCCTGAACGACTGTGGGCCCCATTTCTTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGACAGGAGATTATCCAAGGTGTG... | TTGGATAAGCTATAAATTTTATTTCTTTGAGACTAATTCTCCTGAACGACTGTGGGCCCCATTTCTTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGACAGGAGATTATCCAAGGTGTG... |
Task1_train_6286 | Consider this mutation in THRB (thyroid hormone receptor beta) on Chromosome 3. Is this a benign change or a disease-causing variant? | Pathogenic; Selective pituitary resistance to thyroid hormone | TTGGATAAGCTATAAATTTTATTTCTTTGAGACTAATTCTCCTGAACGACTGTGGGCCCCATTTCTTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGACAGGAGATTATCCAAGGTGTG... | TTGGATAAGCTATAAATTTTATTTCTTTGAGACTAATTCTCCTGAACGACTGTGGGCCCCATTTCTTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGACAGGAGATTATCCAAGGTGTG... |
Task1_train_6287 | This sequence variant lies in THRB (thyroid hormone receptor beta) on Chromosome 3. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Selective pituitary resistance to thyroid hormone | GATAAGCTATAAATTTTATTTCTTTGAGACTAATTCTCCTGAACGACTGTGGGCCCCATTTCTTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGACAGGAGATTATCCAAGGTGTGAAC... | GATAAGCTATAAATTTTATTTCTTTGAGACTAATTCTCCTGAACGACTGTGGGCCCCATTTCTTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGACAGGAGATTATCCAAGGTGTGAAC... |
Task1_train_6288 | A mutation in THRB (thyroid hormone receptor beta), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Thyroid hormone resistance, generalized, autosomal dominant | CTAATTCTCCTGAACGACTGTGGGCCCCATTTCTTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGACAGGAGATTATCCAAGGTGTGAACATTAGGAGGTGGTGGGGAGTGTAGGAGGC... | CTAATTCTCCTGAACGACTGTGGGCCCCATTTCTTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGACAGGAGATTATCCAAGGTGTGAACATTAGGAGGTGGTGGGGAGTGTAGGAGGC... |
Task1_train_6289 | This genomic variant is located on Chromosome 3, within the THRB (thyroid hormone receptor beta) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Generalized resistance to thyroid hormone | ACTGTGGGCCCCATTTCTTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGACAGGAGATTATCCAAGGTGTGAACATTAGGAGGTGGTGGGGAGTGTAGGAGGCCGGTCTGGAGTCTGGG... | ACTGTGGGCCCCATTTCTTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGACAGGAGATTATCCAAGGTGTGAACATTAGGAGGTGGTGGGGAGTGTAGGAGGCCGGTCTGGAGTCTGGG... |
Task1_train_6290 | This sequence change occurs on Chromosome 3, altering THRB (thyroid hormone receptor beta). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Selective pituitary resistance to thyroid hormone | GGGCCCCATTTCTTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGACAGGAGATTATCCAAGGTGTGAACATTAGGAGGTGGTGGGGAGTGTAGGAGGCCGGTCTGGAGTCTGGGTGCCA... | GGGCCCCATTTCTTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGACAGGAGATTATCCAAGGTGTGAACATTAGGAGGTGGTGGGGAGTGTAGGAGGCCGGTCTGGAGTCTGGGTGCCA... |
Task1_train_6291 | A variant was discovered on Chromosome 3, affecting THRB (thyroid hormone receptor beta). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Thyroid hormone resistance, generalized, autosomal recessive | GGCCCCATTTCTTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGACAGGAGATTATCCAAGGTGTGAACATTAGGAGGTGGTGGGGAGTGTAGGAGGCCGGTCTGGAGTCTGGGTGCCAC... | GGCCCCATTTCTTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGACAGGAGATTATCCAAGGTGTGAACATTAGGAGGTGGTGGGGAGTGTAGGAGGCCGGTCTGGAGTCTGGGTGCCAC... |
Task1_train_6292 | A genetic alteration is present in THRB (thyroid hormone receptor beta) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Thyroid hormone resistance, generalized, autosomal dominant | GGCCCCATTTCTTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGACAGGAGATTATCCAAGGTGTGAACATTAGGAGGTGGTGGGGAGTGTAGGAGGCCGGTCTGGAGTCTGGGTGCCAC... | GGCCCCATTTCTTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGACAGGAGATTATCCAAGGTGTGAACATTAGGAGGTGGTGGGGAGTGTAGGAGGCCGGTCTGGAGTCTGGGTGCCAC... |
Task1_train_6293 | A variant found in Chromosome 3 affects THRB (thyroid hormone receptor beta). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Selective pituitary resistance to thyroid hormone | GGCCCCATTTCTTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGACAGGAGATTATCCAAGGTGTGAACATTAGGAGGTGGTGGGGAGTGTAGGAGGCCGGTCTGGAGTCTGGGTGCCAC... | GGCCCCATTTCTTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGACAGGAGATTATCCAAGGTGTGAACATTAGGAGGTGGTGGGGAGTGTAGGAGGCCGGTCTGGAGTCTGGGTGCCAC... |
Task1_train_6294 | A variant was discovered in gene THRB (thyroid hormone receptor beta), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Thyroid hormone resistance, generalized, autosomal dominant | GGCCCCATTTCTTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGACAGGAGATTATCCAAGGTGTGAACATTAGGAGGTGGTGGGGAGTGTAGGAGGCCGGTCTGGAGTCTGGGTGCCAC... | GGCCCCATTTCTTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGACAGGAGATTATCCAAGGTGTGAACATTAGGAGGTGGTGGGGAGTGTAGGAGGCCGGTCTGGAGTCTGGGTGCCAC... |
Task1_train_6295 | The gene THRB (thyroid hormone receptor beta) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Thyroid hormone resistance syndrome | TCTTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGACAGGAGATTATCCAAGGTGTGAACATTAGGAGGTGGTGGGGAGTGTAGGAGGCCGGTCTGGAGTCTGGGTGCCACAGTGTACAT... | TCTTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGACAGGAGATTATCCAAGGTGTGAACATTAGGAGGTGGTGGGGAGTGTAGGAGGCCGGTCTGGAGTCTGGGTGCCACAGTGTACAT... |
Task1_train_6296 | This mutation occurs in THRB (thyroid hormone receptor beta) on Chromosome 3. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Thyroid hormone resistance, generalized, autosomal dominant | TCTTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGACAGGAGATTATCCAAGGTGTGAACATTAGGAGGTGGTGGGGAGTGTAGGAGGCCGGTCTGGAGTCTGGGTGCCACAGTGTACAT... | TCTTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGACAGGAGATTATCCAAGGTGTGAACATTAGGAGGTGGTGGGGAGTGTAGGAGGCCGGTCTGGAGTCTGGGTGCCACAGTGTACAT... |
Task1_train_6297 | This variant impacts the gene THRB (thyroid hormone receptor beta) on Chromosome 3. Is the change likely to result in a pathogenic outcome? | Pathogenic; Thyroid hormone resistance, generalized, autosomal dominant | TTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGACAGGAGATTATCCAAGGTGTGAACATTAGGAGGTGGTGGGGAGTGTAGGAGGCCGGTCTGGAGTCTGGGTGCCACAGTGTACATGG... | TTGCTGGCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGACAGGAGATTATCCAAGGTGTGAACATTAGGAGGTGGTGGGGAGTGTAGGAGGCCGGTCTGGAGTCTGGGTGCCACAGTGTACATGG... |
Task1_train_6298 | A sequence alteration has been identified in THRB (thyroid hormone receptor beta) on Chromosome 3. Is it disease-inducing or harmless? | Pathogenic; Thyroid hormone resistance, generalized, autosomal dominant | GCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGACAGGAGATTATCCAAGGTGTGAACATTAGGAGGTGGTGGGGAGTGTAGGAGGCCGGTCTGGAGTCTGGGTGCCACAGTGTACATGGGAGTTC... | GCTGTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGACAGGAGATTATCCAAGGTGTGAACATTAGGAGGTGGTGGGGAGTGTAGGAGGCCGGTCTGGAGTCTGGGTGCCACAGTGTACATGGGAGTTC... |
Task1_train_6299 | Gene THRB (thyroid hormone receptor beta) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | GTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGACAGGAGATTATCCAAGGTGTGAACATTAGGAGGTGGTGGGGAGTGTAGGAGGCCGGTCTGGAGTCTGGGTGCCACAGTGTACATGGGAGTTCATT... | GTCACTGGAGACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGACAGGAGATTATCCAAGGTGTGAACATTAGGAGGTGGTGGGGAGTGTAGGAGGCCGGTCTGGAGTCTGGGTGCCACAGTGTACATGGGAGTTCATT... |
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