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_7000 | A variant affecting Chromosome 3, within the gene USP19 (ubiquitin specific peptidase 19), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Epileptic encephalopathy | TTGCCTCAGCCTCCCAAGTAGCTGGGACTATAACACGTACCACCATGCCCAGCTAATTTTATTTCTTGTAGAGACAGTGTTTCACCAAGTTGCCCAGGCTGGTCCCAAACTCCTGGGCTCAAGTGATCTGCCCACCTCGGCCTCACAAAGTGCTGGGACTACAGGCATGAGCCACTGTGCCCAGCCCATGTGTATGTCTGTAGATGCCAATGACTGTACACACGTCTGTGGTGAGTACACACACACATCCACACATGTGATAGCCCAAGGAAGGACAAAGATACCTCCGCCAAACGCAGGTTCTCAGGCTTCACATGAAC... | TTGCCTCAGCCTCCCAAGTAGCTGGGACTATAACACGTACCACCATGCCCAGCTAATTTTATTTCTTGTAGAGACAGTGTTTCACCAAGTTGCCCAGGCTGGTCCCAAACTCCTGGGCTCAAGTGATCTGCCCACCTCGGCCTCACAAAGTGCTGGGACTACAGGCATGAGCCACTGTGCCCAGCCCATGTGTATGTCTGTAGATGCCAATGACTGTACACACGTCTGTGGTGAGTACACACACACATCCACACATGTGATAGCCCAAGGAAGGACAAAGATACCTCCGCCAAACGCAGGTTCTCAGGCTTCACATGAAC... |
Task1_train_7001 | Here’s a variant in USP19 (ubiquitin specific peptidase 19) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Epileptic encephalopathy | GTTGCCCAGGCTGGTCCCAAACTCCTGGGCTCAAGTGATCTGCCCACCTCGGCCTCACAAAGTGCTGGGACTACAGGCATGAGCCACTGTGCCCAGCCCATGTGTATGTCTGTAGATGCCAATGACTGTACACACGTCTGTGGTGAGTACACACACACATCCACACATGTGATAGCCCAAGGAAGGACAAAGATACCTCCGCCAAACGCAGGTTCTCAGGCTTCACATGAACACTCTGAGAGAGGGAGTCCAATACTTCGCTCGCAGTGGAGTTCTCCTTGCTGACGCTCACCAGGAACTGTGGCAAAAAGGGCAGTCAG... | GTTGCCCAGGCTGGTCCCAAACTCCTGGGCTCAAGTGATCTGCCCACCTCGGCCTCACAAAGTGCTGGGACTACAGGCATGAGCCACTGTGCCCAGCCCATGTGTATGTCTGTAGATGCCAATGACTGTACACACGTCTGTGGTGAGTACACACACACATCCACACATGTGATAGCCCAAGGAAGGACAAAGATACCTCCGCCAAACGCAGGTTCTCAGGCTTCACATGAACACTCTGAGAGAGGGAGTCCAATACTTCGCTCGCAGTGGAGTTCTCCTTGCTGACGCTCACCAGGAACTGTGGCAAAAAGGGCAGTCAG... |
Task1_train_7002 | A variant was discovered on Chromosome 3, affecting LAMB2 (laminin subunit beta 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; LAMB2-related infantile-onset nephrotic syndrome | GTCCAGGATGGAGTTTCCCCGGGGGTCACCAGGCGCTCCACCACATCGAGCACCTGGGAGATAATGCAGCCAGGGATGGAGGCTCAGGTGAGGCTTTGCCTCTTCTGCCACAGCCAGCCCCAAACCCCATTTCTCCTGCCAAAGCTAGATATCACCCCTATCCCCTCAACAAGGTACTGCCCATAACCCCACCTCTCCAGTCATAGACGTGTCCACCCACATCCAGCCCTCTGCTTAGGGGGAGGCCCCACACCTGCCCTCGGGTGTCCTCAGCCTCCCAAATTAGGTGGTCCAGGAAGGGCCGGAAGTAGCCAGGTTGC... | GTCCAGGATGGAGTTTCCCCGGGGGTCACCAGGCGCTCCACCACATCGAGCACCTGGGAGATAATGCAGCCAGGGATGGAGGCTCAGGTGAGGCTTTGCCTCTTCTGCCACAGCCAGCCCCAAACCCCATTTCTCCTGCCAAAGCTAGATATCACCCCTATCCCCTCAACAAGGTACTGCCCATAACCCCACCTCTCCAGTCATAGACGTGTCCACCCACATCCAGCCCTCTGCTTAGGGGGAGGCCCCACACCTGCCCTCGGGTGTCCTCAGCCTCCCAAATTAGGTGGTCCAGGAAGGGCCGGAAGTAGCCAGGTTGC... |
Task1_train_7003 | This variant affects gene LAMB2 (laminin subunit beta 2) located on Chromosome 3. Evaluate its biological effect and specify any disease association. | Pathogenic; Pierson syndrome | AGGTTGCACCTGCTCACAGCGTCGCCCAACCATGTGCTGGCGGCAGTGGCATTGACCTGTGCCCTCATCACACCTGGAGGGAACTCTGTGGTTACTCAAGAAGAACCTTCTCTTCTGCTCAGGATCTTTCCCCATCCCTTCCCAGGCCCCCTTTACAACACTTACTGGGGATCCAAAGCACCACCCACGTCGCAGTCACAGGGGCGGCAGCCGAGCAGGTCGTGGCTCAGGCCCCAGTGGCCAGGCTGCACGAAAGGAGTTGCTGGGGGCCAGAAACAGACCTCCAGACCCCATCACCACCCAGCAGGAAATCCCAACCA... | AGGTTGCACCTGCTCACAGCGTCGCCCAACCATGTGCTGGCGGCAGTGGCATTGACCTGTGCCCTCATCACACCTGGAGGGAACTCTGTGGTTACTCAAGAAGAACCTTCTCTTCTGCTCAGGATCTTTCCCCATCCCTTCCCAGGCCCCCTTTACAACACTTACTGGGGATCCAAAGCACCACCCACGTCGCAGTCACAGGGGCGGCAGCCGAGCAGGTCGTGGCTCAGGCCCCAGTGGCCAGGCTGCACGAAAGGAGTTGCTGGGGGCCAGAAACAGACCTCCAGACCCCATCACCACCCAGCAGGAAATCCCAACCA... |
Task1_train_7004 | A variant on Chromosome 3 in gene LAMB2 (laminin subunit beta 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; LAMB2-related infantile-onset nephrotic syndrome | AGGTTGCACCTGCTCACAGCGTCGCCCAACCATGTGCTGGCGGCAGTGGCATTGACCTGTGCCCTCATCACACCTGGAGGGAACTCTGTGGTTACTCAAGAAGAACCTTCTCTTCTGCTCAGGATCTTTCCCCATCCCTTCCCAGGCCCCCTTTACAACACTTACTGGGGATCCAAAGCACCACCCACGTCGCAGTCACAGGGGCGGCAGCCGAGCAGGTCGTGGCTCAGGCCCCAGTGGCCAGGCTGCACGAAAGGAGTTGCTGGGGGCCAGAAACAGACCTCCAGACCCCATCACCACCCAGCAGGAAATCCCAACCA... | AGGTTGCACCTGCTCACAGCGTCGCCCAACCATGTGCTGGCGGCAGTGGCATTGACCTGTGCCCTCATCACACCTGGAGGGAACTCTGTGGTTACTCAAGAAGAACCTTCTCTTCTGCTCAGGATCTTTCCCCATCCCTTCCCAGGCCCCCTTTACAACACTTACTGGGGATCCAAAGCACCACCCACGTCGCAGTCACAGGGGCGGCAGCCGAGCAGGTCGTGGCTCAGGCCCCAGTGGCCAGGCTGCACGAAAGGAGTTGCTGGGGGCCAGAAACAGACCTCCAGACCCCATCACCACCCAGCAGGAAATCCCAACCA... |
Task1_train_7005 | A variant on Chromosome 3 in gene RHOA (ras homolog family member A) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | TACAAAAATCACCCAGGCGTGGGGGCGTATGCCTGTAGTCCAAGCTACTTGGGAGGCTGAGACAGGAGATTTGCTTGAACCTGGAAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTCAACTCCAGCCTGGGCAACAGAGCGAGACCCCGCCTCTAAATCAATCAATCAATCATAACTGCTGAAAATGATCTAAGTGAACCAACGGCATGGAATACGTGCTCTTTCTCTGTCCTGGGACATACTGCACAGAGGACTCAATCTTAGCTCAGCTCCTTGGGCCAGCATGACCTTAAACAAGTGGCTCAATATCTTGGAG... | TACAAAAATCACCCAGGCGTGGGGGCGTATGCCTGTAGTCCAAGCTACTTGGGAGGCTGAGACAGGAGATTTGCTTGAACCTGGAAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTCAACTCCAGCCTGGGCAACAGAGCGAGACCCCGCCTCTAAATCAATCAATCAATCATAACTGCTGAAAATGATCTAAGTGAACCAACGGCATGGAATACGTGCTCTTTCTCTGTCCTGGGACATACTGCACAGAGGACTCAATCTTAGCTCAGCTCCTTGGGCCAGCATGACCTTAAACAAGTGGCTCAATATCTTGGAG... |
Task1_train_7006 | A genetic alteration is present in RHOA (ras homolog family member A) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; neuro-ectodermal phenotype | ATCAAGTGTTAGCAGCATATGAGACATATAACTGAATGCTCAAGAAAAATGAGAATGTTGGAGAAGAGCACCTCATTCTAGTTTTAGGGGTTTTTTCCTTTCAGCTGACCCACTTCAAAAGATGTATAGGAGAGCTGGGCACGCTGGCTTGCGCCTGTAAGCCCAGCCACTTGGGGCTGAGATGGAAGAACTTGAGCCCAGTTGTTTGAAACCAGCTGGACCAACACAAGACCTCATCTCTAAAAACATAAATTACCCAGGTGTGGTGGCACATACCTACAGTGCCAGCTATTTGGGAGGCTGAGGTGGAAGGATCACTT... | ATCAAGTGTTAGCAGCATATGAGACATATAACTGAATGCTCAAGAAAAATGAGAATGTTGGAGAAGAGCACCTCATTCTAGTTTTAGGGGTTTTTTCCTTTCAGCTGACCCACTTCAAAAGATGTATAGGAGAGCTGGGCACGCTGGCTTGCGCCTGTAAGCCCAGCCACTTGGGGCTGAGATGGAAGAACTTGAGCCCAGTTGTTTGAAACCAGCTGGACCAACACAAGACCTCATCTCTAAAAACATAAATTACCCAGGTGTGGTGGCACATACCTACAGTGCCAGCTATTTGGGAGGCTGAGGTGGAAGGATCACTT... |
Task1_train_7007 | Gene RHOA (ras homolog family member A), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | ATCAAGTGTTAGCAGCATATGAGACATATAACTGAATGCTCAAGAAAAATGAGAATGTTGGAGAAGAGCACCTCATTCTAGTTTTAGGGGTTTTTTCCTTTCAGCTGACCCACTTCAAAAGATGTATAGGAGAGCTGGGCACGCTGGCTTGCGCCTGTAAGCCCAGCCACTTGGGGCTGAGATGGAAGAACTTGAGCCCAGTTGTTTGAAACCAGCTGGACCAACACAAGACCTCATCTCTAAAAACATAAATTACCCAGGTGTGGTGGCACATACCTACAGTGCCAGCTATTTGGGAGGCTGAGGTGGAAGGATCACTT... | ATCAAGTGTTAGCAGCATATGAGACATATAACTGAATGCTCAAGAAAAATGAGAATGTTGGAGAAGAGCACCTCATTCTAGTTTTAGGGGTTTTTTCCTTTCAGCTGACCCACTTCAAAAGATGTATAGGAGAGCTGGGCACGCTGGCTTGCGCCTGTAAGCCCAGCCACTTGGGGCTGAGATGGAAGAACTTGAGCCCAGTTGTTTGAAACCAGCTGGACCAACACAAGACCTCATCTCTAAAAACATAAATTACCCAGGTGTGGTGGCACATACCTACAGTGCCAGCTATTTGGGAGGCTGAGGTGGAAGGATCACTT... |
Task1_train_7008 | A variant affecting Chromosome 3, within the gene RHOA (ras homolog family member A), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hemihypertrophy | ATCAAGTGTTAGCAGCATATGAGACATATAACTGAATGCTCAAGAAAAATGAGAATGTTGGAGAAGAGCACCTCATTCTAGTTTTAGGGGTTTTTTCCTTTCAGCTGACCCACTTCAAAAGATGTATAGGAGAGCTGGGCACGCTGGCTTGCGCCTGTAAGCCCAGCCACTTGGGGCTGAGATGGAAGAACTTGAGCCCAGTTGTTTGAAACCAGCTGGACCAACACAAGACCTCATCTCTAAAAACATAAATTACCCAGGTGTGGTGGCACATACCTACAGTGCCAGCTATTTGGGAGGCTGAGGTGGAAGGATCACTT... | ATCAAGTGTTAGCAGCATATGAGACATATAACTGAATGCTCAAGAAAAATGAGAATGTTGGAGAAGAGCACCTCATTCTAGTTTTAGGGGTTTTTTCCTTTCAGCTGACCCACTTCAAAAGATGTATAGGAGAGCTGGGCACGCTGGCTTGCGCCTGTAAGCCCAGCCACTTGGGGCTGAGATGGAAGAACTTGAGCCCAGTTGTTTGAAACCAGCTGGACCAACACAAGACCTCATCTCTAAAAACATAAATTACCCAGGTGTGGTGGCACATACCTACAGTGCCAGCTATTTGGGAGGCTGAGGTGGAAGGATCACTT... |
Task1_train_7009 | This alteration occurs within gene AMT (aminomethyltransferase) located on Chromosome 3. Is it associated with a disease or is it a benign variant? | Pathogenic; Inborn genetic diseases | CTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAA... | CTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAA... |
Task1_train_7010 | Gene AMT (aminomethyltransferase) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Glycine encephalopathy | CTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAA... | CTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAA... |
Task1_train_7011 | The variant affects gene AMT (aminomethyltransferase), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Glycine encephalopathy 1 | CTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAA... | CTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAA... |
Task1_train_7012 | A sequence alteration has been identified in AMT (aminomethyltransferase) on Chromosome 3. Is it disease-inducing or harmless? | Pathogenic; Glycine encephalopathy 2 | CTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAA... | CTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAA... |
Task1_train_7013 | The gene AMT (aminomethyltransferase) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Glycine encephalopathy | AGCACACTAGACCAACTTGGGAATGTGGAAGAGTGAGTCTATGTTCCCTCAGCCATCCCCAAGTTTACACACAGGCATAGCAGCCCTACTGTGAGTCAGCAATCATTCCTGACTTGCAGTAAGGACAATTTGCATTTACGGAAAGCAAACTGGAGGGGGTAGCCTAAGTCCGCACTGCCCATGTTATTACCCTTTGCAATGTGAAAAACCATGGTGAGGTAGGTTGGGCAGGTTTTATCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTAC... | AGCACACTAGACCAACTTGGGAATGTGGAAGAGTGAGTCTATGTTCCCTCAGCCATCCCCAAGTTTACACACAGGCATAGCAGCCCTACTGTGAGTCAGCAATCATTCCTGACTTGCAGTAAGGACAATTTGCATTTACGGAAAGCAAACTGGAGGGGGTAGCCTAAGTCCGCACTGCCCATGTTATTACCCTTTGCAATGTGAAAAACCATGGTGAGGTAGGTTGGGCAGGTTTTATCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTAC... |
Task1_train_7014 | This mutation is located in gene AMT (aminomethyltransferase) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Glycine encephalopathy | AGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTG... | AGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTG... |
Task1_train_7015 | Chromosome 3 houses a mutation in gene AMT (aminomethyltransferase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Glycine encephalopathy 1 | AGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTG... | AGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTG... |
Task1_train_7016 | Given this variant in gene AMT (aminomethyltransferase) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Glycine encephalopathy 2 | AGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTG... | AGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTG... |
Task1_train_7017 | This genomic variant is located on Chromosome 3, within the AMT (aminomethyltransferase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Glycine encephalopathy | GGCCTGCTCTTGAGTCTCATAGCTGTTCATTCACTGAAAGAGCCATTTTCCAGGTCCCTTGTCTGTGCCAACCCTGTCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGG... | GGCCTGCTCTTGAGTCTCATAGCTGTTCATTCACTGAAAGAGCCATTTTCCAGGTCCCTTGTCTGTGCCAACCCTGTCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGG... |
Task1_train_7018 | This mutation is located in gene AMT (aminomethyltransferase) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Glycine encephalopathy | CTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGA... | CTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGA... |
Task1_train_7019 | A sequence alteration has been identified in AMT (aminomethyltransferase) on Chromosome 3. Is it disease-inducing or harmless? | Pathogenic; Glycine encephalopathy 1 | CTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGA... | CTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGA... |
Task1_train_7020 | This variant affects gene AMT, NICN1 (aminomethyltransferase| nicolin 1, tubulin polyglutamylase complex subunit) located on Chromosome 3. Evaluate its biological effect and specify any disease association. | Pathogenic; Glycine encephalopathy | GCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGA... | GCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGA... |
Task1_train_7021 | The gene NICN1, AMT (nicolin 1, tubulin polyglutamylase complex subunit| aminomethyltransferase) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Glycine encephalopathy | GCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGA... | GCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGA... |
Task1_train_7022 | Here is a genetic alteration in GMPPB (GDP-mannose pyrophosphorylase B) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 | CCCCCAGGGGCGGGGCCCGGGCTCCTATTGGTTCCCGTTTGAGGAGGCGGGGCGGCTACATCCCTTTGTGCCCAATGGCCCCGCATGACCGCCAGATGGGGAGCAAGGCCAACCCCAAAGTCCCCGTCAGCCTTTGGCTGGCAGCTCTCCGCCGCTCGTTTTTCCTCGGGGAGTAAAAGGGGGAGTCTGGAAGAATGTCTCCAAGCTGCTGTTAGTGTTTATTTGAAGTGACTTTGAAGGACTGATAATATTATGGGGCAGGCAGACTCTCACTATCTTAAGGTGGTTCGCCTGAGCCTTCTTAAAGTGGTACCCCAGGC... | CCCCCAGGGGCGGGGCCCGGGCTCCTATTGGTTCCCGTTTGAGGAGGCGGGGCGGCTACATCCCTTTGTGCCCAATGGCCCCGCATGACCGCCAGATGGGGAGCAAGGCCAACCCCAAAGTCCCCGTCAGCCTTTGGCTGGCAGCTCTCCGCCGCTCGTTTTTCCTCGGGGAGTAAAAGGGGGAGTCTGGAAGAATGTCTCCAAGCTGCTGTTAGTGTTTATTTGAAGTGACTTTGAAGGACTGATAATATTATGGGGCAGGCAGACTCTCACTATCTTAAGGTGGTTCGCCTGAGCCTTCTTAAAGTGGTACCCCAGGC... |
Task1_train_7023 | This genomic variant is located on Chromosome 3, within the GMPPB (GDP-mannose pyrophosphorylase B) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 | CCCCCAGGGGCGGGGCCCGGGCTCCTATTGGTTCCCGTTTGAGGAGGCGGGGCGGCTACATCCCTTTGTGCCCAATGGCCCCGCATGACCGCCAGATGGGGAGCAAGGCCAACCCCAAAGTCCCCGTCAGCCTTTGGCTGGCAGCTCTCCGCCGCTCGTTTTTCCTCGGGGAGTAAAAGGGGGAGTCTGGAAGAATGTCTCCAAGCTGCTGTTAGTGTTTATTTGAAGTGACTTTGAAGGACTGATAATATTATGGGGCAGGCAGACTCTCACTATCTTAAGGTGGTTCGCCTGAGCCTTCTTAAAGTGGTACCCCAGGC... | CCCCCAGGGGCGGGGCCCGGGCTCCTATTGGTTCCCGTTTGAGGAGGCGGGGCGGCTACATCCCTTTGTGCCCAATGGCCCCGCATGACCGCCAGATGGGGAGCAAGGCCAACCCCAAAGTCCCCGTCAGCCTTTGGCTGGCAGCTCTCCGCCGCTCGTTTTTCCTCGGGGAGTAAAAGGGGGAGTCTGGAAGAATGTCTCCAAGCTGCTGTTAGTGTTTATTTGAAGTGACTTTGAAGGACTGATAATATTATGGGGCAGGCAGACTCTCACTATCTTAAGGTGGTTCGCCTGAGCCTTCTTAAAGTGGTACCCCAGGC... |
Task1_train_7024 | The following genetic variant occurs in GMPPB (GDP-mannose pyrophosphorylase B) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2T | CCCCCAGGGGCGGGGCCCGGGCTCCTATTGGTTCCCGTTTGAGGAGGCGGGGCGGCTACATCCCTTTGTGCCCAATGGCCCCGCATGACCGCCAGATGGGGAGCAAGGCCAACCCCAAAGTCCCCGTCAGCCTTTGGCTGGCAGCTCTCCGCCGCTCGTTTTTCCTCGGGGAGTAAAAGGGGGAGTCTGGAAGAATGTCTCCAAGCTGCTGTTAGTGTTTATTTGAAGTGACTTTGAAGGACTGATAATATTATGGGGCAGGCAGACTCTCACTATCTTAAGGTGGTTCGCCTGAGCCTTCTTAAAGTGGTACCCCAGGC... | CCCCCAGGGGCGGGGCCCGGGCTCCTATTGGTTCCCGTTTGAGGAGGCGGGGCGGCTACATCCCTTTGTGCCCAATGGCCCCGCATGACCGCCAGATGGGGAGCAAGGCCAACCCCAAAGTCCCCGTCAGCCTTTGGCTGGCAGCTCTCCGCCGCTCGTTTTTCCTCGGGGAGTAAAAGGGGGAGTCTGGAAGAATGTCTCCAAGCTGCTGTTAGTGTTTATTTGAAGTGACTTTGAAGGACTGATAATATTATGGGGCAGGCAGACTCTCACTATCTTAAGGTGGTTCGCCTGAGCCTTCTTAAAGTGGTACCCCAGGC... |
Task1_train_7025 | This variant lies on Chromosome 3 and affects the gene GMPPB (GDP-mannose pyrophosphorylase B). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 | TGAGCCTTCTTAAAGTGGTACCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACCTGGTGAAACCCTGTCTCTACTAAAAATACAACAATTAGCCGGGCGTGGTGGTGGGCGTCTGCAATTCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGCAACAGAGCGAGACTCGTCTCAAGAAAAAAAAAAA... | TGAGCCTTCTTAAAGTGGTACCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACCTGGTGAAACCCTGTCTCTACTAAAAATACAACAATTAGCCGGGCGTGGTGGTGGGCGTCTGCAATTCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGCAACAGAGCGAGACTCGTCTCAAGAAAAAAAAAAA... |
Task1_train_7026 | Here’s a variant in GMPPB (GDP-mannose pyrophosphorylase B) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 | TGAGCCTTCTTAAAGTGGTACCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACCTGGTGAAACCCTGTCTCTACTAAAAATACAACAATTAGCCGGGCGTGGTGGTGGGCGTCTGCAATTCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGCAACAGAGCGAGACTCGTCTCAAGAAAAAAAAAAA... | TGAGCCTTCTTAAAGTGGTACCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACCTGGTGAAACCCTGTCTCTACTAAAAATACAACAATTAGCCGGGCGTGGTGGTGGGCGTCTGCAATTCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGCAACAGAGCGAGACTCGTCTCAAGAAAAAAAAAAA... |
Task1_train_7027 | Here’s a variant in GMPPB (GDP-mannose pyrophosphorylase B) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2T | TGAGCCTTCTTAAAGTGGTACCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACCTGGTGAAACCCTGTCTCTACTAAAAATACAACAATTAGCCGGGCGTGGTGGTGGGCGTCTGCAATTCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGCAACAGAGCGAGACTCGTCTCAAGAAAAAAAAAAA... | TGAGCCTTCTTAAAGTGGTACCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACCTGGTGAAACCCTGTCTCTACTAAAAATACAACAATTAGCCGGGCGTGGTGGTGGGCGTCTGCAATTCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGCAACAGAGCGAGACTCGTCTCAAGAAAAAAAAAAA... |
Task1_train_7028 | A sequence alteration has been identified in GMPPB (GDP-mannose pyrophosphorylase B) on Chromosome 3. Is it disease-inducing or harmless? | Pathogenic; Muscular dystrophy | TGAGCCTTCTTAAAGTGGTACCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACCTGGTGAAACCCTGTCTCTACTAAAAATACAACAATTAGCCGGGCGTGGTGGTGGGCGTCTGCAATTCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGCAACAGAGCGAGACTCGTCTCAAGAAAAAAAAAAA... | TGAGCCTTCTTAAAGTGGTACCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACCTGGTGAAACCCTGTCTCTACTAAAAATACAACAATTAGCCGGGCGTGGTGGTGGGCGTCTGCAATTCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGCAACAGAGCGAGACTCGTCTCAAGAAAAAAAAAAA... |
Task1_train_7029 | Consider a variant on Chromosome 3 in gene GMPPB (GDP-mannose pyrophosphorylase B). Determine its clinical classification and disease relevance. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2T | CCACATAGCCAGGCATCCAACTCCAGCCCACCCTTCACTCTCCTCCCTGCAGCCCACCAGTGAGGAGGACCTCTGCCCCATCTGCTATGCCCACCCCATCTCTGCTGTGTTCCAGCCCTGTGGCCACAAGTCCTGCAAGTAAGTGGGCCCCACAGCTTGGTGGTGGGGAGAGCAGTAGGTACATGCAGGGCAGTCCTCATCCCCTCCCCTGTTGTAGAGCCTGTATCAACCAGCACCTGATGAACAACAAGGACTGCTTCTTCTGCAAAACCACCATCGTGTCTGTAGAGGACTGGGAGAAGGGAGCCAATACGAGTACT... | CCACATAGCCAGGCATCCAACTCCAGCCCACCCTTCACTCTCCTCCCTGCAGCCCACCAGTGAGGAGGACCTCTGCCCCATCTGCTATGCCCACCCCATCTCTGCTGTGTTCCAGCCCTGTGGCCACAAGTCCTGCAAGTAAGTGGGCCCCACAGCTTGGTGGTGGGGAGAGCAGTAGGTACATGCAGGGCAGTCCTCATCCCCTCCCCTGTTGTAGAGCCTGTATCAACCAGCACCTGATGAACAACAAGGACTGCTTCTTCTGCAAAACCACCATCGTGTCTGTAGAGGACTGGGAGAAGGGAGCCAATACGAGTACT... |
Task1_train_7030 | Assess the clinical impact of this variant on gene GMPPB (GDP-mannose pyrophosphorylase B), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2T | GGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCT... | GGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCT... |
Task1_train_7031 | A mutation on Chromosome 3 affecting GMPPB (GDP-mannose pyrophosphorylase B) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 | GGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCT... | GGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCT... |
Task1_train_7032 | The following genetic variant occurs in GMPPB (GDP-mannose pyrophosphorylase B) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 | GGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCT... | GGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCT... |
Task1_train_7033 | A mutation in GMPPB (GDP-mannose pyrophosphorylase B), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2T | GGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCT... | GGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCT... |
Task1_train_7034 | A variant affecting Chromosome 3, within the gene GMPPB (GDP-mannose pyrophosphorylase B), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2T | GCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCT... | GCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCT... |
Task1_train_7035 | Located on Chromosome 3, this mutation impacts TRAIP (TRAF interacting protein). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Seckel syndrome 9 | ACATACACACAATTAAAATATTCAACAATAACGTAGAAGTGGGAAAAGAATGTTAGTATTCTAAGCTCTTTGAGTTGCCTGGGAAAATGAGAAAGGTGTTGATTAACCTTGAAATTGGTAAGTTAAGGATACATACCTTAATTTCTAGGATAACCACTTATAAATGGAAATGGGGTATATAACGACCCAACTAACTGAGGGAAAAATGGAGAAATACAGAATATTTAACCAATTCCTACCAAGGCAAGAAAGGAGACAATAAGATATAATAGGCAAGGCAAAACAGAATCGACTAAAGACAATATGTTTACTCTTTATTT... | ACATACACACAATTAAAATATTCAACAATAACGTAGAAGTGGGAAAAGAATGTTAGTATTCTAAGCTCTTTGAGTTGCCTGGGAAAATGAGAAAGGTGTTGATTAACCTTGAAATTGGTAAGTTAAGGATACATACCTTAATTTCTAGGATAACCACTTATAAATGGAAATGGGGTATATAACGACCCAACTAACTGAGGGAAAAATGGAGAAATACAGAATATTTAACCAATTCCTACCAAGGCAAGAAAGGAGACAATAAGATATAATAGGCAAGGCAAAACAGAATCGACTAAAGACAATATGTTTACTCTTTATTT... |
Task1_train_7036 | Here’s a variant in GNAT1 (G protein subunit alpha transducin 1) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Congenital stationary night blindness autosomal dominant 3 | CCAGTCCAGAGTCACCAGCCCTTCTTAACCACTTCCTACTGTGTGACCCTTTCAGCCTTTACTTCCTCATCAGTAAAATGAGGCTGATGATATGGGCATCCATACTCCAGGGCCAGTGTGAGCTTACAACAAGATAAGGAGTGGTGCTGAGCCTGGTGCCGGGCAGGCAGCAGGCATGTTTCTCCCAATTATGCCCTCTCACTGCCAGCCCCACCTCCATTGTCCTCACCCCCAGGGCTCAAGGTTCTGCCTTCCCCTTTCTCAGCCCTGACCCTACTGAACATGTCTCCCCACTCCCAGGCAGTGCCAGGGCCTCTCCT... | CCAGTCCAGAGTCACCAGCCCTTCTTAACCACTTCCTACTGTGTGACCCTTTCAGCCTTTACTTCCTCATCAGTAAAATGAGGCTGATGATATGGGCATCCATACTCCAGGGCCAGTGTGAGCTTACAACAAGATAAGGAGTGGTGCTGAGCCTGGTGCCGGGCAGGCAGCAGGCATGTTTCTCCCAATTATGCCCTCTCACTGCCAGCCCCACCTCCATTGTCCTCACCCCCAGGGCTCAAGGTTCTGCCTTCCCCTTTCTCAGCCCTGACCCTACTGAACATGTCTCCCCACTCCCAGGCAGTGCCAGGGCCTCTCCT... |
Task1_train_7037 | Assess the clinical impact of this variant on gene GNAT1 (G protein subunit alpha transducin 1), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Congenital stationary night blindness 1G | TAGCCCCCAAATCCCACTAAGCAGCCCCACCAGGGATTGCACAGGTCCGTAGAGAGCCAGTTGATTGCAGGTCCTCCTGGGGCCAGAAGGGTGCCTGGGAGGCCAGGTTCTGGGGATCCCCTCCATCCAGAAGAACCACCTGCTCACTCTGTCCCTTCGCCTGCTGCTGGGACCATGGGGGCTGGGGCCAGTGCTGAGGAGAAGCACTCCAGGGAGCTGGAAAAGAAGCTGAAAGAGGACGCTGAGAAGGATGCTCGAACCGTGAAGCTGCTGCTTCTGGGTAGGGGTGTGGGCCCAGGTGGGGCCACTGCCACCAGGTC... | TAGCCCCCAAATCCCACTAAGCAGCCCCACCAGGGATTGCACAGGTCCGTAGAGAGCCAGTTGATTGCAGGTCCTCCTGGGGCCAGAAGGGTGCCTGGGAGGCCAGGTTCTGGGGATCCCCTCCATCCAGAAGAACCACCTGCTCACTCTGTCCCTTCGCCTGCTGCTGGGACCATGGGGGCTGGGGCCAGTGCTGAGGAGAAGCACTCCAGGGAGCTGGAAAAGAAGCTGAAAGAGGACGCTGAGAAGGATGCTCGAACCGTGAAGCTGCTGCTTCTGGGTAGGGGTGTGGGCCCAGGTGGGGCCACTGCCACCAGGTC... |
Task1_train_7038 | A mutation in GNAT1 (G protein subunit alpha transducin 1), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Retinitis pigmentosa | CTGCTGGGACCATGGGGGCTGGGGCCAGTGCTGAGGAGAAGCACTCCAGGGAGCTGGAAAAGAAGCTGAAAGAGGACGCTGAGAAGGATGCTCGAACCGTGAAGCTGCTGCTTCTGGGTAGGGGTGTGGGCCCAGGTGGGGCCACTGCCACCAGGTCATTGGTCTGGAGGCAGGCAGGCAGCCCTTCTGTGAAGCAAGGATTCCCTGGGAAGCAGTATGAGCCTGTGACAGAGTAGGGCACAGGGTGGGAGCCCTGGCCAAGCAAGGCCAGGCCTGACAGGTGGTGTCCTAGTCCCCCAGGGCTGGACATCCCACAAAGC... | CTGCTGGGACCATGGGGGCTGGGGCCAGTGCTGAGGAGAAGCACTCCAGGGAGCTGGAAAAGAAGCTGAAAGAGGACGCTGAGAAGGATGCTCGAACCGTGAAGCTGCTGCTTCTGGGTAGGGGTGTGGGCCCAGGTGGGGCCACTGCCACCAGGTCATTGGTCTGGAGGCAGGCAGGCAGCCCTTCTGTGAAGCAAGGATTCCCTGGGAAGCAGTATGAGCCTGTGACAGAGTAGGGCACAGGGTGGGAGCCCTGGCCAAGCAAGGCCAGGCCTGACAGGTGGTGTCCTAGTCCCCCAGGGCTGGACATCCCACAAAGC... |
Task1_train_7039 | This alteration occurs within gene GNAT1 (G protein subunit alpha transducin 1) located on Chromosome 3. Is it associated with a disease or is it a benign variant? | Pathogenic; Congenital stationary night blindness autosomal dominant 3 | ACCCACCCTCCCCAGAAGTGCGTGCCAACCACACTCTTGCACGGGTGTGTGATGCCGACTTTTCCGTGGCTGGGTTCCCGCAAGCTTCATGCAGCCTTTGGTTTGATACGCCTGCTAGGCAATGCTCAGAAGCCAGGAGCCTCACTGGGAGCCCGTTATTGGGCTGCTACTTTGGGAAGGGGATGGCCATAGTCCTCCTGGGAGTGGGGAGCCTCTAGGACCACCCAGATCCACAACGAATGGCCCTCAGGTGCCAGAGGGCTGTGGCTGATAGACCTACAAAGCAGCCAGAGGGGCTGGCGGGTACTGAGGCCCAGTGG... | ACCCACCCTCCCCAGAAGTGCGTGCCAACCACACTCTTGCACGGGTGTGTGATGCCGACTTTTCCGTGGCTGGGTTCCCGCAAGCTTCATGCAGCCTTTGGTTTGATACGCCTGCTAGGCAATGCTCAGAAGCCAGGAGCCTCACTGGGAGCCCGTTATTGGGCTGCTACTTTGGGAAGGGGATGGCCATAGTCCTCCTGGGAGTGGGGAGCCTCTAGGACCACCCAGATCCACAACGAATGGCCCTCAGGTGCCAGAGGGCTGTGGCTGATAGACCTACAAAGCAGCCAGAGGGGCTGGCGGGTACTGAGGCCCAGTGG... |
Task1_train_7040 | This sequence variant lies in SLC38A3 (solute carrier family 38 member 3) on Chromosome 3. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Developmental and epileptic encephalopathy 102 | GACCTGTGTATCCTGAGAAAAGCAACAGCAGTGCCTACAATAGAGAGGGTCCTGAGCATGAGCTGTGTGCCAGGCTGGAACCTTAGTTCTCATGTCACCCTGAAGGACAGTACTGAAGGCACGCCCTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTGTGAGACGGAGTCTCGCTCAGTCGCCCAGGCTGGAGTACAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCTTGTGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGAGATTATAGGCGTGTGCCACCATGCCCGGCTAATTTTTTTGTAT... | GACCTGTGTATCCTGAGAAAAGCAACAGCAGTGCCTACAATAGAGAGGGTCCTGAGCATGAGCTGTGTGCCAGGCTGGAACCTTAGTTCTCATGTCACCCTGAAGGACAGTACTGAAGGCACGCCCTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTGTGAGACGGAGTCTCGCTCAGTCGCCCAGGCTGGAGTACAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCTTGTGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGAGATTATAGGCGTGTGCCACCATGCCCGGCTAATTTTTTTGTAT... |
Task1_train_7041 | A variant found in Chromosome 3 affects GNAI2 (G protein subunit alpha i2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Pituitary dependent hypercortisolism | GAGGACCCCACGGGGAACAGGATAGACAGGCTAATAGCCATTGAGGATGGCTGCAGGGGACATCCACAGGCTTTGGATGGTGTCACCAGATAGGCTGCTGTCCCTGTACTCTAGCCTTCCCCTATCTCTGCTTAAGCCAGTCCCCTCTGACTGGAACACCCTTTTGCTCCTATTGTTCATCCAATCCTGAGCCTACCCATAGGGTGGATTTCAGCAAGGGTGGGTGGGAGGAGGAGGAGGGTCTTGCCTGGCTGTGATTCCTGAGCCCTGTCCAAGCCACATGAACAGCCTCCTCCTACCCTTCTTACATGGCCTGAATG... | GAGGACCCCACGGGGAACAGGATAGACAGGCTAATAGCCATTGAGGATGGCTGCAGGGGACATCCACAGGCTTTGGATGGTGTCACCAGATAGGCTGCTGTCCCTGTACTCTAGCCTTCCCCTATCTCTGCTTAAGCCAGTCCCCTCTGACTGGAACACCCTTTTGCTCCTATTGTTCATCCAATCCTGAGCCTACCCATAGGGTGGATTTCAGCAAGGGTGGGTGGGAGGAGGAGGAGGGTCTTGCCTGGCTGTGATTCCTGAGCCCTGTCCAAGCCACATGAACAGCCTCCTCCTACCCTTCTTACATGGCCTGAATG... |
Task1_train_7042 | An alteration has been detected in GNAI2 (G protein subunit alpha i2) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Ovarian granulosa cell tumor | AGGACCCCACGGGGAACAGGATAGACAGGCTAATAGCCATTGAGGATGGCTGCAGGGGACATCCACAGGCTTTGGATGGTGTCACCAGATAGGCTGCTGTCCCTGTACTCTAGCCTTCCCCTATCTCTGCTTAAGCCAGTCCCCTCTGACTGGAACACCCTTTTGCTCCTATTGTTCATCCAATCCTGAGCCTACCCATAGGGTGGATTTCAGCAAGGGTGGGTGGGAGGAGGAGGAGGGTCTTGCCTGGCTGTGATTCCTGAGCCCTGTCCAAGCCACATGAACAGCCTCCTCCTACCCTTCTTACATGGCCTGAATGC... | AGGACCCCACGGGGAACAGGATAGACAGGCTAATAGCCATTGAGGATGGCTGCAGGGGACATCCACAGGCTTTGGATGGTGTCACCAGATAGGCTGCTGTCCCTGTACTCTAGCCTTCCCCTATCTCTGCTTAAGCCAGTCCCCTCTGACTGGAACACCCTTTTGCTCCTATTGTTCATCCAATCCTGAGCCTACCCATAGGGTGGATTTCAGCAAGGGTGGGTGGGAGGAGGAGGAGGGTCTTGCCTGGCTGTGATTCCTGAGCCCTGTCCAAGCCACATGAACAGCCTCCTCCTACCCTTCTTACATGGCCTGAATGC... |
Task1_train_7043 | A mutation in GNAI2 (G protein subunit alpha i2), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Thecoma, somatic | AGGACCCCACGGGGAACAGGATAGACAGGCTAATAGCCATTGAGGATGGCTGCAGGGGACATCCACAGGCTTTGGATGGTGTCACCAGATAGGCTGCTGTCCCTGTACTCTAGCCTTCCCCTATCTCTGCTTAAGCCAGTCCCCTCTGACTGGAACACCCTTTTGCTCCTATTGTTCATCCAATCCTGAGCCTACCCATAGGGTGGATTTCAGCAAGGGTGGGTGGGAGGAGGAGGAGGGTCTTGCCTGGCTGTGATTCCTGAGCCCTGTCCAAGCCACATGAACAGCCTCCTCCTACCCTTCTTACATGGCCTGAATGC... | AGGACCCCACGGGGAACAGGATAGACAGGCTAATAGCCATTGAGGATGGCTGCAGGGGACATCCACAGGCTTTGGATGGTGTCACCAGATAGGCTGCTGTCCCTGTACTCTAGCCTTCCCCTATCTCTGCTTAAGCCAGTCCCCTCTGACTGGAACACCCTTTTGCTCCTATTGTTCATCCAATCCTGAGCCTACCCATAGGGTGGATTTCAGCAAGGGTGGGTGGGAGGAGGAGGAGGGTCTTGCCTGGCTGTGATTCCTGAGCCCTGTCCAAGCCACATGAACAGCCTCCTCCTACCCTTCTTACATGGCCTGAATGC... |
Task1_train_7044 | A variant affecting Chromosome 3, within the gene GNAI2 (G protein subunit alpha i2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Adrenocortical tumor, somatic | AGGACCCCACGGGGAACAGGATAGACAGGCTAATAGCCATTGAGGATGGCTGCAGGGGACATCCACAGGCTTTGGATGGTGTCACCAGATAGGCTGCTGTCCCTGTACTCTAGCCTTCCCCTATCTCTGCTTAAGCCAGTCCCCTCTGACTGGAACACCCTTTTGCTCCTATTGTTCATCCAATCCTGAGCCTACCCATAGGGTGGATTTCAGCAAGGGTGGGTGGGAGGAGGAGGAGGGTCTTGCCTGGCTGTGATTCCTGAGCCCTGTCCAAGCCACATGAACAGCCTCCTCCTACCCTTCTTACATGGCCTGAATGC... | AGGACCCCACGGGGAACAGGATAGACAGGCTAATAGCCATTGAGGATGGCTGCAGGGGACATCCACAGGCTTTGGATGGTGTCACCAGATAGGCTGCTGTCCCTGTACTCTAGCCTTCCCCTATCTCTGCTTAAGCCAGTCCCCTCTGACTGGAACACCCTTTTGCTCCTATTGTTCATCCAATCCTGAGCCTACCCATAGGGTGGATTTCAGCAAGGGTGGGTGGGAGGAGGAGGAGGGTCTTGCCTGGCTGTGATTCCTGAGCCCTGTCCAAGCCACATGAACAGCCTCCTCCTACCCTTCTTACATGGCCTGAATGC... |
Task1_train_7045 | The gene GNAI2 (G protein subunit alpha i2) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Ventricular tachycardia, somatic | ATGATACTCAAAGGAAGCAGGAATAGAGCCACCTCCAGGCCACCTCCTGCTTCTCCATCATCCTCTTTCTCTATTCTCCAGACATTAGGCACCCACTGTGTGCCCAGCACAGTTTTGGGAGTGAATACAGGCCCTGTTCTCCCAGTCAGGTTTAAGCCTTGATAGCTCCCCCTGGGAATGGGTTGCGGATTGGAACACCACAGGAAGCAGGGCTCCTTCAGCCCCTCTTCGCAGCAACCCTCCAAGTGTGCAGCGAGTCAGGGGGTCCCTGGGGCGAACCCACCTGTTGGGGAAAAGGGAGAGGCTGGTGTGGAATGCAC... | ATGATACTCAAAGGAAGCAGGAATAGAGCCACCTCCAGGCCACCTCCTGCTTCTCCATCATCCTCTTTCTCTATTCTCCAGACATTAGGCACCCACTGTGTGCCCAGCACAGTTTTGGGAGTGAATACAGGCCCTGTTCTCCCAGTCAGGTTTAAGCCTTGATAGCTCCCCCTGGGAATGGGTTGCGGATTGGAACACCACAGGAAGCAGGGCTCCTTCAGCCCCTCTTCGCAGCAACCCTCCAAGTGTGCAGCGAGTCAGGGGGTCCCTGGGGCGAACCCACCTGTTGGGGAAAAGGGAGAGGCTGGTGTGGAATGCAC... |
Task1_train_7046 | Given a variant located on Chromosome 3 and affecting HYAL2 (hyaluronidase 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; HYAL2 deficiency | GCCTTGGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCGCACCCGGCCCATCATTTTATTGACCAACACCTGAATCTTCTCTCCAGCCTGGCCTCCCCCCACCATGGCCATGAGCACCTGGGACCCCTCCACTTGTATGTGCACCTCCTCCTTCACTGTGTGAATTTACCACGTCACCTTTCCAGTGTTACCACCTCACTCTCTCCTCTCCATTCTCTACCCATCACCGGCGAAAGAGGTGAGGGAAGGATATCTTTACAGCCTGGGTTGGCACTGGCTTGGCCGGGCTTGTTTCTCCCATCTGGCATCTCGGTC... | GCCTTGGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCGCACCCGGCCCATCATTTTATTGACCAACACCTGAATCTTCTCTCCAGCCTGGCCTCCCCCCACCATGGCCATGAGCACCTGGGACCCCTCCACTTGTATGTGCACCTCCTCCTTCACTGTGTGAATTTACCACGTCACCTTTCCAGTGTTACCACCTCACTCTCTCCTCTCCATTCTCTACCCATCACCGGCGAAAGAGGTGAGGGAAGGATATCTTTACAGCCTGGGTTGGCACTGGCTTGGCCGGGCTTGTTTCTCCCATCTGGCATCTCGGTC... |
Task1_train_7047 | A genomic change on Chromosome 3 affects HYAL2 (hyaluronidase 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; HYAL2-related disorder | TCCCACTGGGGTGGCTCCTGCCCCAGCAGAACAGCTCCAGAGTGGGCAGCTCTGGGCCCCCAAGTCTTGGTGAATACATCTTACACGAGAAGTCCCCAGCAGAGGGTTTCATAGAGACAGAGCTGAGCTCAAACCCCATGGGAAATTCTGGAATCTCGCATACACTTTAGCCCAGGTACAAAATCCAAGCAGAGAAGCAATTGTTTTATGTTTAATTTACAAAAGAGACCCCAAAATAATAATAATAATAAACTATCTAGGGCAAGGGAGTAGGGTCAGGTCCTCCCCAGCCCAGCTGTACCCTCCTTCCCCTCTGGCAG... | TCCCACTGGGGTGGCTCCTGCCCCAGCAGAACAGCTCCAGAGTGGGCAGCTCTGGGCCCCCAAGTCTTGGTGAATACATCTTACACGAGAAGTCCCCAGCAGAGGGTTTCATAGAGACAGAGCTGAGCTCAAACCCCATGGGAAATTCTGGAATCTCGCATACACTTTAGCCCAGGTACAAAATCCAAGCAGAGAAGCAATTGTTTTATGTTTAATTTACAAAAGAGACCCCAAAATAATAATAATAATAAACTATCTAGGGCAAGGGAGTAGGGTCAGGTCCTCCCCAGCCCAGCTGTACCCTCCTTCCCCTCTGGCAG... |
Task1_train_7048 | Here is a variant affecting HYAL2 (hyaluronidase 2) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; HYAL2 deficiency | TCCCACTGGGGTGGCTCCTGCCCCAGCAGAACAGCTCCAGAGTGGGCAGCTCTGGGCCCCCAAGTCTTGGTGAATACATCTTACACGAGAAGTCCCCAGCAGAGGGTTTCATAGAGACAGAGCTGAGCTCAAACCCCATGGGAAATTCTGGAATCTCGCATACACTTTAGCCCAGGTACAAAATCCAAGCAGAGAAGCAATTGTTTTATGTTTAATTTACAAAAGAGACCCCAAAATAATAATAATAATAAACTATCTAGGGCAAGGGAGTAGGGTCAGGTCCTCCCCAGCCCAGCTGTACCCTCCTTCCCCTCTGGCAG... | TCCCACTGGGGTGGCTCCTGCCCCAGCAGAACAGCTCCAGAGTGGGCAGCTCTGGGCCCCCAAGTCTTGGTGAATACATCTTACACGAGAAGTCCCCAGCAGAGGGTTTCATAGAGACAGAGCTGAGCTCAAACCCCATGGGAAATTCTGGAATCTCGCATACACTTTAGCCCAGGTACAAAATCCAAGCAGAGAAGCAATTGTTTTATGTTTAATTTACAAAAGAGACCCCAAAATAATAATAATAATAAACTATCTAGGGCAAGGGAGTAGGGTCAGGTCCTCCCCAGCCCAGCTGTACCCTCCTTCCCCTCTGGCAG... |
Task1_train_7049 | A variant has been detected on Chromosome 3 in HYAL2 (hyaluronidase 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Muggenthaler-Chowdhury-Chioza syndrome | TCCCACTGGGGTGGCTCCTGCCCCAGCAGAACAGCTCCAGAGTGGGCAGCTCTGGGCCCCCAAGTCTTGGTGAATACATCTTACACGAGAAGTCCCCAGCAGAGGGTTTCATAGAGACAGAGCTGAGCTCAAACCCCATGGGAAATTCTGGAATCTCGCATACACTTTAGCCCAGGTACAAAATCCAAGCAGAGAAGCAATTGTTTTATGTTTAATTTACAAAAGAGACCCCAAAATAATAATAATAATAAACTATCTAGGGCAAGGGAGTAGGGTCAGGTCCTCCCCAGCCCAGCTGTACCCTCCTTCCCCTCTGGCAG... | TCCCACTGGGGTGGCTCCTGCCCCAGCAGAACAGCTCCAGAGTGGGCAGCTCTGGGCCCCCAAGTCTTGGTGAATACATCTTACACGAGAAGTCCCCAGCAGAGGGTTTCATAGAGACAGAGCTGAGCTCAAACCCCATGGGAAATTCTGGAATCTCGCATACACTTTAGCCCAGGTACAAAATCCAAGCAGAGAAGCAATTGTTTTATGTTTAATTTACAAAAGAGACCCCAAAATAATAATAATAATAAACTATCTAGGGCAAGGGAGTAGGGTCAGGTCCTCCCCAGCCCAGCTGTACCCTCCTTCCCCTCTGGCAG... |
Task1_train_7050 | This mutation is located in gene HYAL2 (hyaluronidase 2) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; HYAL2 deficiency | TGCCCTCCTGGGCTTCCTGGGGGCTCTGCCCACTCCAGACTCCAGTTTGTCCACCCCCTGCAGGGTCCTACATGCCTAAGAGAGCCCTTGTGGTAGAGGCCAGCTTGCTAGGCAGCTAGGCAGGAGACCCCTACAAGGTCCAGGTAAAGGCCAGGGCTGCCAGAGCCAGCAGACTGGTGAGGTGGGACCCAGCCCAGGCCTCGCTGGCACCTCCAGCTGCCTGCCTATGGTCCCACTGGCATTGCTCACCACTCCAGCCCAAGTAGCACTGGCAGCGGAAGTGTGTCTGCAGGTGGTCAATGTCGGCCCAACTGAGCTCC... | TGCCCTCCTGGGCTTCCTGGGGGCTCTGCCCACTCCAGACTCCAGTTTGTCCACCCCCTGCAGGGTCCTACATGCCTAAGAGAGCCCTTGTGGTAGAGGCCAGCTTGCTAGGCAGCTAGGCAGGAGACCCCTACAAGGTCCAGGTAAAGGCCAGGGCTGCCAGAGCCAGCAGACTGGTGAGGTGGGACCCAGCCCAGGCCTCGCTGGCACCTCCAGCTGCCTGCCTATGGTCCCACTGGCATTGCTCACCACTCCAGCCCAAGTAGCACTGGCAGCGGAAGTGTGTCTGCAGGTGGTCAATGTCGGCCCAACTGAGCTCC... |
Task1_train_7051 | Gene HYAL2 (hyaluronidase 2), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Muggenthaler-Chowdhury-Chioza syndrome | TGCCCTCCTGGGCTTCCTGGGGGCTCTGCCCACTCCAGACTCCAGTTTGTCCACCCCCTGCAGGGTCCTACATGCCTAAGAGAGCCCTTGTGGTAGAGGCCAGCTTGCTAGGCAGCTAGGCAGGAGACCCCTACAAGGTCCAGGTAAAGGCCAGGGCTGCCAGAGCCAGCAGACTGGTGAGGTGGGACCCAGCCCAGGCCTCGCTGGCACCTCCAGCTGCCTGCCTATGGTCCCACTGGCATTGCTCACCACTCCAGCCCAAGTAGCACTGGCAGCGGAAGTGTGTCTGCAGGTGGTCAATGTCGGCCCAACTGAGCTCC... | TGCCCTCCTGGGCTTCCTGGGGGCTCTGCCCACTCCAGACTCCAGTTTGTCCACCCCCTGCAGGGTCCTACATGCCTAAGAGAGCCCTTGTGGTAGAGGCCAGCTTGCTAGGCAGCTAGGCAGGAGACCCCTACAAGGTCCAGGTAAAGGCCAGGGCTGCCAGAGCCAGCAGACTGGTGAGGTGGGACCCAGCCCAGGCCTCGCTGGCACCTCCAGCTGCCTGCCTATGGTCCCACTGGCATTGCTCACCACTCCAGCCCAAGTAGCACTGGCAGCGGAAGTGTGTCTGCAGGTGGTCAATGTCGGCCCAACTGAGCTCC... |
Task1_train_7052 | The variant affects gene ZMYND10 (zinc finger MYND-type containing 10), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Primary ciliary dyskinesia | GGCGAAAGTAACGGACCTAGTCCTCGGGAGCTGTCCCCGCCGACCCCCTCTGCCGCGACTTGACCCGCGGCGACTGCGCTGCCCCTTGGCTGCCCCTTCCGCTCTCGTAGGCGCGCGGGGCCACTACTCACGCGCGCACTGCAGGCCTTTGCGCACGACGCCCCAGATGAAGTCGCCACAGAGGTCGCACCACGTGTGCGTGGCGGGCCCCGCGGGCTGGAAGCGGTGGCCACGGCCAGGGACCAGCTGCCGTGTGGGGTTGCACGCGGTGCCCCGCGCGATGCGCAGCGCGTTGGCACGCTCCAGCCGGGTGCGGCCCT... | GGCGAAAGTAACGGACCTAGTCCTCGGGAGCTGTCCCCGCCGACCCCCTCTGCCGCGACTTGACCCGCGGCGACTGCGCTGCCCCTTGGCTGCCCCTTCCGCTCTCGTAGGCGCGCGGGGCCACTACTCACGCGCGCACTGCAGGCCTTTGCGCACGACGCCCCAGATGAAGTCGCCACAGAGGTCGCACCACGTGTGCGTGGCGGGCCCCGCGGGCTGGAAGCGGTGGCCACGGCCAGGGACCAGCTGCCGTGTGGGGTTGCACGCGGTGCCCCGCGCGATGCGCAGCGCGTTGGCACGCTCCAGCCGGGTGCGGCCCT... |
Task1_train_7053 | A variant on Chromosome 3 in gene ZMYND10 (zinc finger MYND-type containing 10) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Primary ciliary dyskinesia | GGGAAAAGGAGGAGGGAAACTTTCTGTGTCTGATGCCTTCCCCACACAGACACAATCTCCCTTCCTGCCAGGCCCTGACCCGGAACTGTGGCCCATGGGCAGAGATAGTCCCTCACCTTGTGGAAGAACACTGTCTCCAAGAGGTTGATGATGGAGGCCTCGTGGTGCACCTGTCAGATAAAGAGAAGGACAGGGCCTGAGGAAGGGATAGGGGCTACCAGCTCTCCTCCCCGGTCCAGAGCCCTCTGAAGGAGTGAGAAGAGGTATGAACCAGGGGCCCAGCTCACCACCATGTAGATGGGGAAGGTGTTCTGGGGCTT... | GGGAAAAGGAGGAGGGAAACTTTCTGTGTCTGATGCCTTCCCCACACAGACACAATCTCCCTTCCTGCCAGGCCCTGACCCGGAACTGTGGCCCATGGGCAGAGATAGTCCCTCACCTTGTGGAAGAACACTGTCTCCAAGAGGTTGATGATGGAGGCCTCGTGGTGCACCTGTCAGATAAAGAGAAGGACAGGGCCTGAGGAAGGGATAGGGGCTACCAGCTCTCCTCCCCGGTCCAGAGCCCTCTGAAGGAGTGAGAAGAGGTATGAACCAGGGGCCCAGCTCACCACCATGTAGATGGGGAAGGTGTTCTGGGGCTT... |
Task1_train_7054 | With a mutation on Chromosome 3 in gene ZMYND10 (zinc finger MYND-type containing 10), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Primary ciliary dyskinesia 22 | TCCCCACACAGACACAATCTCCCTTCCTGCCAGGCCCTGACCCGGAACTGTGGCCCATGGGCAGAGATAGTCCCTCACCTTGTGGAAGAACACTGTCTCCAAGAGGTTGATGATGGAGGCCTCGTGGTGCACCTGTCAGATAAAGAGAAGGACAGGGCCTGAGGAAGGGATAGGGGCTACCAGCTCTCCTCCCCGGTCCAGAGCCCTCTGAAGGAGTGAGAAGAGGTATGAACCAGGGGCCCAGCTCACCACCATGTAGATGGGGAAGGTGTTCTGGGGCTTGAAGTCCTCCACCCTGCAGAACACAGGGAACACCTTCT... | TCCCCACACAGACACAATCTCCCTTCCTGCCAGGCCCTGACCCGGAACTGTGGCCCATGGGCAGAGATAGTCCCTCACCTTGTGGAAGAACACTGTCTCCAAGAGGTTGATGATGGAGGCCTCGTGGTGCACCTGTCAGATAAAGAGAAGGACAGGGCCTGAGGAAGGGATAGGGGCTACCAGCTCTCCTCCCCGGTCCAGAGCCCTCTGAAGGAGTGAGAAGAGGTATGAACCAGGGGCCCAGCTCACCACCATGTAGATGGGGAAGGTGTTCTGGGGCTTGAAGTCCTCCACCCTGCAGAACACAGGGAACACCTTCT... |
Task1_train_7055 | This gene mutation involves ZMYND10 (zinc finger MYND-type containing 10) on Chromosome 3. Is it associated with any clinical condition, or is it benign? | Pathogenic; Primary ciliary dyskinesia | TCCCCACACAGACACAATCTCCCTTCCTGCCAGGCCCTGACCCGGAACTGTGGCCCATGGGCAGAGATAGTCCCTCACCTTGTGGAAGAACACTGTCTCCAAGAGGTTGATGATGGAGGCCTCGTGGTGCACCTGTCAGATAAAGAGAAGGACAGGGCCTGAGGAAGGGATAGGGGCTACCAGCTCTCCTCCCCGGTCCAGAGCCCTCTGAAGGAGTGAGAAGAGGTATGAACCAGGGGCCCAGCTCACCACCATGTAGATGGGGAAGGTGTTCTGGGGCTTGAAGTCCTCCACCCTGCAGAACACAGGGAACACCTTCT... | TCCCCACACAGACACAATCTCCCTTCCTGCCAGGCCCTGACCCGGAACTGTGGCCCATGGGCAGAGATAGTCCCTCACCTTGTGGAAGAACACTGTCTCCAAGAGGTTGATGATGGAGGCCTCGTGGTGCACCTGTCAGATAAAGAGAAGGACAGGGCCTGAGGAAGGGATAGGGGCTACCAGCTCTCCTCCCCGGTCCAGAGCCCTCTGAAGGAGTGAGAAGAGGTATGAACCAGGGGCCCAGCTCACCACCATGTAGATGGGGAAGGTGTTCTGGGGCTTGAAGTCCTCCACCCTGCAGAACACAGGGAACACCTTCT... |
Task1_train_7056 | Located on Chromosome 3, this mutation impacts ZMYND10 (zinc finger MYND-type containing 10). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Primary ciliary dyskinesia | ACTGTGGCCCATGGGCAGAGATAGTCCCTCACCTTGTGGAAGAACACTGTCTCCAAGAGGTTGATGATGGAGGCCTCGTGGTGCACCTGTCAGATAAAGAGAAGGACAGGGCCTGAGGAAGGGATAGGGGCTACCAGCTCTCCTCCCCGGTCCAGAGCCCTCTGAAGGAGTGAGAAGAGGTATGAACCAGGGGCCCAGCTCACCACCATGTAGATGGGGAAGGTGTTCTGGGGCTTGAAGTCCTCCACCCTGCAGAACACAGGGAACACCTTCTGCTTCCACATCTCCACTGCGATCAGCTCCTCCACCAGTGTTGGGAC... | ACTGTGGCCCATGGGCAGAGATAGTCCCTCACCTTGTGGAAGAACACTGTCTCCAAGAGGTTGATGATGGAGGCCTCGTGGTGCACCTGTCAGATAAAGAGAAGGACAGGGCCTGAGGAAGGGATAGGGGCTACCAGCTCTCCTCCCCGGTCCAGAGCCCTCTGAAGGAGTGAGAAGAGGTATGAACCAGGGGCCCAGCTCACCACCATGTAGATGGGGAAGGTGTTCTGGGGCTTGAAGTCCTCCACCCTGCAGAACACAGGGAACACCTTCTGCTTCCACATCTCCACTGCGATCAGCTCCTCCACCAGTGTTGGGAC... |
Task1_train_7057 | Gene NPRL2 (NPR2 like, GATOR1 complex subunit) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Epilepsy, familial focal, with variable foci 2 | AAGCCGCTCATCCAGCTCATGGTAGCTCATGCCTGGGTGGGGTGGTGGAGGAGAGGTCAGTGGCCTTGGCCTGGCCACCCTGCCCTGAACCCACCCTGACTGCCCGCCTGCCTCCACCTGTCTTGCAGCAGATCTCGTCATAGCTGTGGCAGCCTGTATAAAGCCGGGCAGGGTGGCTCTGCTCTTCCCGAGTCACCCGCACAGGATACTTCTGTAGTCGCCTGATGAGGTTCTTCATAAGCCCGAACTGGATCAGCTTCCTAGGGTGAGGATCAGAGGACGGGGTGACGCCCTGGCCAGGCCTTCTTTCAGGCAGGCCA... | AAGCCGCTCATCCAGCTCATGGTAGCTCATGCCTGGGTGGGGTGGTGGAGGAGAGGTCAGTGGCCTTGGCCTGGCCACCCTGCCCTGAACCCACCCTGACTGCCCGCCTGCCTCCACCTGTCTTGCAGCAGATCTCGTCATAGCTGTGGCAGCCTGTATAAAGCCGGGCAGGGTGGCTCTGCTCTTCCCGAGTCACCCGCACAGGATACTTCTGTAGTCGCCTGATGAGGTTCTTCATAAGCCCGAACTGGATCAGCTTCCTAGGGTGAGGATCAGAGGACGGGGTGACGCCCTGGCCAGGCCTTCTTTCAGGCAGGCCA... |
Task1_train_7058 | The gene CACNA2D2, CYB561D2, LOC127898564 (calcium voltage-gated channel auxiliary subunit alpha2delta 2| cytochrome b561 family member D2| CYB561D2-LOC101928965) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Cerebellar atrophy with seizures and variable developmental delay | CTGTTTTTTAAACTTAAAATATATATTTTTCTGTATATGTTTATATTCTCCATTGAGCACCTGACTACACTACAGTTACACGCACGCCCCCGAAGGACACAGCTGGCATCCAGGCCGGGTGCACATGGACACCCACCCTGGCACCAGCAGTGGGCATGGACCACACACACACACTGAGAAAGCGACAAGCAACATGACATTAATTAACGAAGCCATTAATTAATGCATCACCCTCCCCCTCCTCCCAGTCCATCTGAGCCCCATCACTATATCCCCTTGCCCTCAGTTCCCCACTGGCCCCCAGGCTGGGATGCCTTTGG... | CTGTTTTTTAAACTTAAAATATATATTTTTCTGTATATGTTTATATTCTCCATTGAGCACCTGACTACACTACAGTTACACGCACGCCCCCGAAGGACACAGCTGGCATCCAGGCCGGGTGCACATGGACACCCACCCTGGCACCAGCAGTGGGCATGGACCACACACACACACTGAGAAAGCGACAAGCAACATGACATTAATTAACGAAGCCATTAATTAATGCATCACCCTCCCCCTCCTCCCAGTCCATCTGAGCCCCATCACTATATCCCCTTGCCCTCAGTTCCCCACTGGCCCCCAGGCTGGGATGCCTTTGG... |
Task1_train_7059 | This sequence variant lies in CACNA2D2, LOC127898564 (calcium voltage-gated channel auxiliary subunit alpha2delta 2| CYB561D2-LOC101928965) on Chromosome 3. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Cerebellar atrophy with seizures and variable developmental delay | ATATATATTTTTCTGTATATGTTTATATTCTCCATTGAGCACCTGACTACACTACAGTTACACGCACGCCCCCGAAGGACACAGCTGGCATCCAGGCCGGGTGCACATGGACACCCACCCTGGCACCAGCAGTGGGCATGGACCACACACACACACTGAGAAAGCGACAAGCAACATGACATTAATTAACGAAGCCATTAATTAATGCATCACCCTCCCCCTCCTCCCAGTCCATCTGAGCCCCATCACTATATCCCCTTGCCCTCAGTTCCCCACTGGCCCCCAGGCTGGGATGCCTTTGGGGGAAATGACCAGAATGA... | ATATATATTTTTCTGTATATGTTTATATTCTCCATTGAGCACCTGACTACACTACAGTTACACGCACGCCCCCGAAGGACACAGCTGGCATCCAGGCCGGGTGCACATGGACACCCACCCTGGCACCAGCAGTGGGCATGGACCACACACACACACTGAGAAAGCGACAAGCAACATGACATTAATTAACGAAGCCATTAATTAATGCATCACCCTCCCCCTCCTCCCAGTCCATCTGAGCCCCATCACTATATCCCCTTGCCCTCAGTTCCCCACTGGCCCCCAGGCTGGGATGCCTTTGGGGGAAATGACCAGAATGA... |
Task1_train_7060 | This alteration in CACNA2D2, CYB561D2, LOC101928965, LOC127898564 (calcium voltage-gated channel auxiliary subunit alpha2delta 2| cytochrome b561 family member D2| uncharacterized LOC101928965| CYB561D2-LOC101928965) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Cerebellar atrophy with seizures and variable developmental delay | TAAGGGCCAGATTGGCGGAAGGATGGCCCAGCCAGGAGAGACAAAGTCACCCCTGCTAAGGCAAAGGGTGATGTCTGGTGGGGGTTCCTCTGCCGAAAGGTGCAGGCAGTGGCATGTGGTCCCACTGGGGGCCTGACACTAGTGAGAAATGGTTACAATGAGCACCTGGAGAGGTGAGGGGGCACTTGGAGGACACTGGTGGCTAGGGGTGGGACAGAGGGTTCTTCACCCCCTGCCCCAGCATTTGGCACTGTTTGACATTCAGCTTTAGAAATGGGAGGACCAGCCAGGCTGCAGCTCAGATTAGAGGCAGGTGGTGA... | TAAGGGCCAGATTGGCGGAAGGATGGCCCAGCCAGGAGAGACAAAGTCACCCCTGCTAAGGCAAAGGGTGATGTCTGGTGGGGGTTCCTCTGCCGAAAGGTGCAGGCAGTGGCATGTGGTCCCACTGGGGGCCTGACACTAGTGAGAAATGGTTACAATGAGCACCTGGAGAGGTGAGGGGGCACTTGGAGGACACTGGTGGCTAGGGGTGGGACAGAGGGTTCTTCACCCCCTGCCCCAGCATTTGGCACTGTTTGACATTCAGCTTTAGAAATGGGAGGACCAGCCAGGCTGCAGCTCAGATTAGAGGCAGGTGGTGA... |
Task1_train_7061 | This variant lies on Chromosome 3 and affects the gene MAPKAPK3 (MAPK activated protein kinase 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Patterned macular dystrophy 3 | TATTGTCCCACTCCACAATCCCTGATGGCATCCAGGACCCACTGGATGGAGGCCATGTTCCCTAGTCACATTCAAAGCCTCTGCTCTGTGTCCCAGACTGCTTTTCTCAGCCTCTTCTCTAGTTTCAGCATACTCATTCTGTTCTCACCAGGTGGGTCCCCTTGCTTCTTTCAAACACTGAGTAATCCAAATAGTAATAAGAATAACTGACTGCCTGCCTAAAGCCAGCGGGCCCTGACAAGCAATCTCATTTCATTCTCACCCAGCCTTGTGAGATAAGTGCCATTACCCATTTTACAGATGAGGAAAACAAGGCTCAG... | TATTGTCCCACTCCACAATCCCTGATGGCATCCAGGACCCACTGGATGGAGGCCATGTTCCCTAGTCACATTCAAAGCCTCTGCTCTGTGTCCCAGACTGCTTTTCTCAGCCTCTTCTCTAGTTTCAGCATACTCATTCTGTTCTCACCAGGTGGGTCCCCTTGCTTCTTTCAAACACTGAGTAATCCAAATAGTAATAAGAATAACTGACTGCCTGCCTAAAGCCAGCGGGCCCTGACAAGCAATCTCATTTCATTCTCACCCAGCCTTGTGAGATAAGTGCCATTACCCATTTTACAGATGAGGAAAACAAGGCTCAG... |
Task1_train_7062 | Consider this mutation in ABHD14A-ACY1, ACY1 (ABHD14A-ACY1 readthrough| aminoacylase 1) on Chromosome 3. Is this a benign change or a disease-causing variant? | Pathogenic; Aminoacylase 1 deficiency | GCCATAGTTTCCCATATTTAAGGAAGATAACACCTTCCTCCAACCCTGTGTCCAGACATCCCCCTGGACTTCCAGAAAGGGTCACTGAGTAGCCAAAAATATCTTCTTTCTTGGGGATGGAAATGCAAGCATCTCTGAGGGATATGGAGTGTGTCGGGGAGGCAGCAGCCCATTTCTGGGTATGCTCCACTCTCCGGGCTGCCTGGGCTGGTGGGAAGCTGTGGGTAGGCAGAAGCAGCCCCAAGACACTCTGTGCCTCCAGGAGCTGCTGTGGCTTTCTTTGAGGAGACAGCCCGCCAGCTGGGCCTGGGCTGTCAGAA... | GCCATAGTTTCCCATATTTAAGGAAGATAACACCTTCCTCCAACCCTGTGTCCAGACATCCCCCTGGACTTCCAGAAAGGGTCACTGAGTAGCCAAAAATATCTTCTTTCTTGGGGATGGAAATGCAAGCATCTCTGAGGGATATGGAGTGTGTCGGGGAGGCAGCAGCCCATTTCTGGGTATGCTCCACTCTCCGGGCTGCCTGGGCTGGTGGGAAGCTGTGGGTAGGCAGAAGCAGCCCCAAGACACTCTGTGCCTCCAGGAGCTGCTGTGGCTTTCTTTGAGGAGACAGCCCGCCAGCTGGGCCTGGGCTGTCAGAA... |
Task1_train_7063 | This variant affects gene POC1A (POC1 centriolar protein A) located on Chromosome 3. Evaluate its biological effect and specify any disease association. | Pathogenic; Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | CGGTTCTTCAAACAACTCCAGCTCTGCCTCCTTCCTGGTCTCGGCCCTGGTCCAGTCTTGCTCATCTCTGTTTTGCCAGCTACACAATTCCCAGTTTCTCCAATGACCCCTCACCAGCTCCCTTCCCTGAGCCCATCCCTGGAACTGGGGCGCCTCATGGCCCTGCCCACTCATACTTGCTCTCAGGCCAGTTCCCTACCCAGTACTCTCAGCGAACTCATCCTGGGCATGTCTAAGTCTGCCCTCGCCCTCCAACTCCCACCTGGAGCCTGACATGAGCCCATGCCCACTGCCCGCCACCCTGCCTTCCAAGGGCTACC... | CGGTTCTTCAAACAACTCCAGCTCTGCCTCCTTCCTGGTCTCGGCCCTGGTCCAGTCTTGCTCATCTCTGTTTTGCCAGCTACACAATTCCCAGTTTCTCCAATGACCCCTCACCAGCTCCCTTCCCTGAGCCCATCCCTGGAACTGGGGCGCCTCATGGCCCTGCCCACTCATACTTGCTCTCAGGCCAGTTCCCTACCCAGTACTCTCAGCGAACTCATCCTGGGCATGTCTAAGTCTGCCCTCGCCCTCCAACTCCCACCTGGAGCCTGACATGAGCCCATGCCCACTGCCCGCCACCCTGCCTTCCAAGGGCTACC... |
Task1_train_7064 | The gene POC1A (POC1 centriolar protein A), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | CTTTAGGAGGCCAAGGCGGGCAGATTACCTGAGGTCAAGAGTTCAAGATCAGCCTGGCCAACATGGTGAAAACCCCTCTCTACTAAAAATACAAAAATTAGCTAGGCGTGGTGGTGGGCGCCTATAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCCAGGAGGAGGAGGTTGTAGTGAGCCGAGATTGCACCAGTGCACTCCAGCCTGGACGACAGAGTGAGACTCCTAATCAAAAAATAAATAAATAAAATAAATATAAATAAATAAAATAAAAAATAAAGTAGTTAAACGTGGTTAGCAAATGA... | CTTTAGGAGGCCAAGGCGGGCAGATTACCTGAGGTCAAGAGTTCAAGATCAGCCTGGCCAACATGGTGAAAACCCCTCTCTACTAAAAATACAAAAATTAGCTAGGCGTGGTGGTGGGCGCCTATAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCCAGGAGGAGGAGGTTGTAGTGAGCCGAGATTGCACCAGTGCACTCCAGCCTGGACGACAGAGTGAGACTCCTAATCAAAAAATAAATAAATAAAATAAATATAAATAAATAAAATAAAAAATAAAGTAGTTAAACGTGGTTAGCAAATGA... |
Task1_train_7065 | This variant affects the gene DNAH1 (dynein axonemal heavy chain 1) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Spermatogenic failure 18 | AGCTGGCCTGAGGGCCCTGGCTAGAGACTGTGGCTTTGCCTCCTCTGAGGAAAGGCCCCTCTGGCCCCTGAGGCTTAAGAGGGGAACTTGGCCTCACTCTTCTCACTTCCCCTTGGTCCCCATCACTACACTGGGCACCTTGGGTCTGCATCTCACTGGATGCAGACTGCAGCTCCCAGGGGGCAGGGCAGCCTCCCTGATGGTGGCAGTCGCGCCTCCCAGCTCACCTGTACTTCGCAGCTGTCTGGCCCCAGGTAGCCTCCACAGCTGCCTGGATTTCCCCTGAACCCCTTCTCACTGGCTGCCTGGGTGCCTGGTGG... | AGCTGGCCTGAGGGCCCTGGCTAGAGACTGTGGCTTTGCCTCCTCTGAGGAAAGGCCCCTCTGGCCCCTGAGGCTTAAGAGGGGAACTTGGCCTCACTCTTCTCACTTCCCCTTGGTCCCCATCACTACACTGGGCACCTTGGGTCTGCATCTCACTGGATGCAGACTGCAGCTCCCAGGGGGCAGGGCAGCCTCCCTGATGGTGGCAGTCGCGCCTCCCAGCTCACCTGTACTTCGCAGCTGTCTGGCCCCAGGTAGCCTCCACAGCTGCCTGGATTTCCCCTGAACCCCTTCTCACTGGCTGCCTGGGTGCCTGGTGG... |
Task1_train_7066 | A variant on Chromosome 3 in gene DNAH1 (dynein axonemal heavy chain 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Ciliary dyskinesia, primary, 37 | AGCTGGCCTGAGGGCCCTGGCTAGAGACTGTGGCTTTGCCTCCTCTGAGGAAAGGCCCCTCTGGCCCCTGAGGCTTAAGAGGGGAACTTGGCCTCACTCTTCTCACTTCCCCTTGGTCCCCATCACTACACTGGGCACCTTGGGTCTGCATCTCACTGGATGCAGACTGCAGCTCCCAGGGGGCAGGGCAGCCTCCCTGATGGTGGCAGTCGCGCCTCCCAGCTCACCTGTACTTCGCAGCTGTCTGGCCCCAGGTAGCCTCCACAGCTGCCTGGATTTCCCCTGAACCCCTTCTCACTGGCTGCCTGGGTGCCTGGTGG... | AGCTGGCCTGAGGGCCCTGGCTAGAGACTGTGGCTTTGCCTCCTCTGAGGAAAGGCCCCTCTGGCCCCTGAGGCTTAAGAGGGGAACTTGGCCTCACTCTTCTCACTTCCCCTTGGTCCCCATCACTACACTGGGCACCTTGGGTCTGCATCTCACTGGATGCAGACTGCAGCTCCCAGGGGGCAGGGCAGCCTCCCTGATGGTGGCAGTCGCGCCTCCCAGCTCACCTGTACTTCGCAGCTGTCTGGCCCCAGGTAGCCTCCACAGCTGCCTGGATTTCCCCTGAACCCCTTCTCACTGGCTGCCTGGGTGCCTGGTGG... |
Task1_train_7067 | This genomic variant is located on Chromosome 3, within the DNAH1 (dynein axonemal heavy chain 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Spermatogenic failure 18 | AGCCCTGGAGGGCAGTCCCGGGGCCAGCCTGCAGGTGTGATATCCCCTTCCCCGGGCCTCCCTGATAGCTGCTCAGAGACCTCCGGCGAAGGCCAGAAGCAGGTGGGGAGGGCTCATCTGTGTGCCTGGACCACCCAGAGATGCCTGAGCTGGTCAGCACTATCCCCAGTCCCCCTCTGCTCACGCTGTCCACTCGACCTGGAGTTTGACACCCGCCTTCCATCTCCTCCAAGGCCCAGCAACAAGCAGCCTTGCCGACTCTCCCTCACCATCCTTCAAGGGGTTCCCACCGAGGCCATTGTCGGTGCCTCTTTCAGAGT... | AGCCCTGGAGGGCAGTCCCGGGGCCAGCCTGCAGGTGTGATATCCCCTTCCCCGGGCCTCCCTGATAGCTGCTCAGAGACCTCCGGCGAAGGCCAGAAGCAGGTGGGGAGGGCTCATCTGTGTGCCTGGACCACCCAGAGATGCCTGAGCTGGTCAGCACTATCCCCAGTCCCCCTCTGCTCACGCTGTCCACTCGACCTGGAGTTTGACACCCGCCTTCCATCTCCTCCAAGGCCCAGCAACAAGCAGCCTTGCCGACTCTCCCTCACCATCCTTCAAGGGGTTCCCACCGAGGCCATTGTCGGTGCCTCTTTCAGAGT... |
Task1_train_7068 | The gene BAP1 (BRCA1 associated deubiquitinase 1) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; BAP1-related tumor predisposition syndrome | CAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGC... | CAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGC... |
Task1_train_7069 | Here is a mutation in BAP1 (BRCA1 associated deubiquitinase 1) on Chromosome 3. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Hereditary cancer-predisposing syndrome | CAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGC... | CAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGC... |
Task1_train_7070 | This alteration occurs within gene BAP1 (BRCA1 associated deubiquitinase 1) located on Chromosome 3. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | TACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGG... | TACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGG... |
Task1_train_7071 | A genomic change on Chromosome 3 affects BAP1 (BRCA1 associated deubiquitinase 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | CAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCC... | CAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCC... |
Task1_train_7072 | Here’s a variant in BAP1 (BRCA1 associated deubiquitinase 1) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Kury-Isidor syndrome | GGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCT... | GGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCT... |
Task1_train_7073 | This sequence change occurs on Chromosome 3, altering BAP1 (BRCA1 associated deubiquitinase 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Neurodevelopmental disorder | GGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCT... | GGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCT... |
Task1_train_7074 | A variant was discovered in gene BAP1 (BRCA1 associated deubiquitinase 1), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Hereditary cancer-predisposing syndrome | AACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGA... | AACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGA... |
Task1_train_7075 | Gene TNNC1 (troponin C1, slow skeletal and cardiac type) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Dilated cardiomyopathy 1Z | CCTGTAATCCCAGCTACTTGGGTGGCTGAGGCACGAGGATCGCTTGAACCTGGGAGGCAGGGGTTACAGTGAGCCGAGATTGTGCCACTGCGCTCCAGTCTGGTGACACAGCGAGACTCTGTCTCAAAAAAAGAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGAAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCT... | CCTGTAATCCCAGCTACTTGGGTGGCTGAGGCACGAGGATCGCTTGAACCTGGGAGGCAGGGGTTACAGTGAGCCGAGATTGTGCCACTGCGCTCCAGTCTGGTGACACAGCGAGACTCTGTCTCAAAAAAAGAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGAAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCT... |
Task1_train_7076 | A mutation in TNNC1 (troponin C1, slow skeletal and cardiac type), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Dilated cardiomyopathy 1Z | GTGGCTGGGCGGGGCAAGGTCAGCTGACGGCATTCTGGCTACAGCCTGGGTGCTGCTGGCAGCTGTCCCTCCTGCGAACACCTCTGCTGACACTTCCACTTCCTTGCAGCCCCCAACGCCCACGCCTCCAAGACAGCATCACTGTCTGGCGGCAGCTCTGGACTGGGTGCTCCCACTAAGCTGAGAGCTGCCAGGCCTTGGGCCTCCATCCCTGCCAGGGAGAGAGACTGGGCCACAAGAGATGAGCCTCTGAGGTTCACGGGAACTGGAAATCATGTCCATTTGGATGTGGCCCATCCGACAGGGCCCTTGGCTGGAAG... | GTGGCTGGGCGGGGCAAGGTCAGCTGACGGCATTCTGGCTACAGCCTGGGTGCTGCTGGCAGCTGTCCCTCCTGCGAACACCTCTGCTGACACTTCCACTTCCTTGCAGCCCCCAACGCCCACGCCTCCAAGACAGCATCACTGTCTGGCGGCAGCTCTGGACTGGGTGCTCCCACTAAGCTGAGAGCTGCCAGGCCTTGGGCCTCCATCCCTGCCAGGGAGAGAGACTGGGCCACAAGAGATGAGCCTCTGAGGTTCACGGGAACTGGAAATCATGTCCATTTGGATGTGGCCCATCCGACAGGGCCCTTGGCTGGAAG... |
Task1_train_7077 | A mutation on Chromosome 3 affecting TNNC1 (troponin C1, slow skeletal and cardiac type) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hypertrophic cardiomyopathy 13 | CGGGGCAAGGTCAGCTGACGGCATTCTGGCTACAGCCTGGGTGCTGCTGGCAGCTGTCCCTCCTGCGAACACCTCTGCTGACACTTCCACTTCCTTGCAGCCCCCAACGCCCACGCCTCCAAGACAGCATCACTGTCTGGCGGCAGCTCTGGACTGGGTGCTCCCACTAAGCTGAGAGCTGCCAGGCCTTGGGCCTCCATCCCTGCCAGGGAGAGAGACTGGGCCACAAGAGATGAGCCTCTGAGGTTCACGGGAACTGGAAATCATGTCCATTTGGATGTGGCCCATCCGACAGGGCCCTTGGCTGGAAGCCAGTTGGC... | CGGGGCAAGGTCAGCTGACGGCATTCTGGCTACAGCCTGGGTGCTGCTGGCAGCTGTCCCTCCTGCGAACACCTCTGCTGACACTTCCACTTCCTTGCAGCCCCCAACGCCCACGCCTCCAAGACAGCATCACTGTCTGGCGGCAGCTCTGGACTGGGTGCTCCCACTAAGCTGAGAGCTGCCAGGCCTTGGGCCTCCATCCCTGCCAGGGAGAGAGACTGGGCCACAAGAGATGAGCCTCTGAGGTTCACGGGAACTGGAAATCATGTCCATTTGGATGTGGCCCATCCGACAGGGCCCTTGGCTGGAAGCCAGTTGGC... |
Task1_train_7078 | Given this variant in gene TNNC1 (troponin C1, slow skeletal and cardiac type) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Dilated cardiomyopathy 1Z | CGGGGCAAGGTCAGCTGACGGCATTCTGGCTACAGCCTGGGTGCTGCTGGCAGCTGTCCCTCCTGCGAACACCTCTGCTGACACTTCCACTTCCTTGCAGCCCCCAACGCCCACGCCTCCAAGACAGCATCACTGTCTGGCGGCAGCTCTGGACTGGGTGCTCCCACTAAGCTGAGAGCTGCCAGGCCTTGGGCCTCCATCCCTGCCAGGGAGAGAGACTGGGCCACAAGAGATGAGCCTCTGAGGTTCACGGGAACTGGAAATCATGTCCATTTGGATGTGGCCCATCCGACAGGGCCCTTGGCTGGAAGCCAGTTGGC... | CGGGGCAAGGTCAGCTGACGGCATTCTGGCTACAGCCTGGGTGCTGCTGGCAGCTGTCCCTCCTGCGAACACCTCTGCTGACACTTCCACTTCCTTGCAGCCCCCAACGCCCACGCCTCCAAGACAGCATCACTGTCTGGCGGCAGCTCTGGACTGGGTGCTCCCACTAAGCTGAGAGCTGCCAGGCCTTGGGCCTCCATCCCTGCCAGGGAGAGAGACTGGGCCACAAGAGATGAGCCTCTGAGGTTCACGGGAACTGGAAATCATGTCCATTTGGATGTGGCCCATCCGACAGGGCCCTTGGCTGGAAGCCAGTTGGC... |
Task1_train_7079 | Consider a variant on Chromosome 3 in gene TNNC1 (troponin C1, slow skeletal and cardiac type). Determine its clinical classification and disease relevance. | Pathogenic; Dilated cardiomyopathy 1Z | AAACGCCAGGCTTGTGTAGCCCTTATGCCCATTTTATAGATGAGGCAACCAAGGCTCGGATAGGCTAAATTGCTCCCAGCTAAACAGAGCCAGCATTCCAGCCCCCAGCCAGCTGGGGTTCTTCTGGAGCCTGGGGAGGAGGGGGCTCACCGTCCTCGTCCACCTCATCGATCATCTCCTGCAGCTCCTCAGGGGTGGGGTTCTGGCCCAGCATCCTCATCACCTTGCCCAGCTCCTTGGTGCTGATGCAGCCATCCTCAGCGCCCAGCACGAAGATGTCGAAGGCTGCCTTGAACTCTGTGTTCAGGGGTTGGGGGGCA... | AAACGCCAGGCTTGTGTAGCCCTTATGCCCATTTTATAGATGAGGCAACCAAGGCTCGGATAGGCTAAATTGCTCCCAGCTAAACAGAGCCAGCATTCCAGCCCCCAGCCAGCTGGGGTTCTTCTGGAGCCTGGGGAGGAGGGGGCTCACCGTCCTCGTCCACCTCATCGATCATCTCCTGCAGCTCCTCAGGGGTGGGGTTCTGGCCCAGCATCCTCATCACCTTGCCCAGCTCCTTGGTGCTGATGCAGCCATCCTCAGCGCCCAGCACGAAGATGTCGAAGGCTGCCTTGAACTCTGTGTTCAGGGGTTGGGGGGCA... |
Task1_train_7080 | This mutation occurs in RFT1 (RFT1 glycolipid translocator homolog) on Chromosome 3. Does this change lead to a known medical condition, or is it benign? | Pathogenic; RFT1-congenital disorder of glycosylation | CTTGCATTTAGCTGCTTTTCTCCCACTTAGTGCAAAGCATTCTCCCTCTGAGTAGATAAAAACCTGCCAGGTGACTGGGCCCCAGTCTTGGTGTACTGACAGGTCTTAATCCTTAGCCCCTGGGTACTGGCTCTGGGCAAGCAGATTTAAATACATGCATTTTAATGCATGATAGGAGTTGCCCTTACTGGCCCTCTCTCTAGGTGTAGACACAGAAGGTTTGGGGCACTGAGTGACAGGATTATTAACATCCAAGTTATAGTTTGTGCATATAGTTCTGAGGGGGGTTAATATCTAAAAGGAATTAATACATTAACAAA... | CTTGCATTTAGCTGCTTTTCTCCCACTTAGTGCAAAGCATTCTCCCTCTGAGTAGATAAAAACCTGCCAGGTGACTGGGCCCCAGTCTTGGTGTACTGACAGGTCTTAATCCTTAGCCCCTGGGTACTGGCTCTGGGCAAGCAGATTTAAATACATGCATTTTAATGCATGATAGGAGTTGCCCTTACTGGCCCTCTCTCTAGGTGTAGACACAGAAGGTTTGGGGCACTGAGTGACAGGATTATTAACATCCAAGTTATAGTTTGTGCATATAGTTCTGAGGGGGGTTAATATCTAAAAGGAATTAATACATTAACAAA... |
Task1_train_7081 | A variant on Chromosome 3 in gene RFT1 (RFT1 glycolipid translocator homolog) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; RFT1-congenital disorder of glycosylation | TCTTAATCCTTAGCCCCTGGGTACTGGCTCTGGGCAAGCAGATTTAAATACATGCATTTTAATGCATGATAGGAGTTGCCCTTACTGGCCCTCTCTCTAGGTGTAGACACAGAAGGTTTGGGGCACTGAGTGACAGGATTATTAACATCCAAGTTATAGTTTGTGCATATAGTTCTGAGGGGGGTTAATATCTAAAAGGAATTAATACATTAACAAAAAAATAAAAACACTTCACACTCCAGAACACTGCTCATGATTTCACCTGCAGTGTGCAGGCTGCAAGGTGCAGAACACCTGGGCTCACACTGTAGCCTGGAGTA... | TCTTAATCCTTAGCCCCTGGGTACTGGCTCTGGGCAAGCAGATTTAAATACATGCATTTTAATGCATGATAGGAGTTGCCCTTACTGGCCCTCTCTCTAGGTGTAGACACAGAAGGTTTGGGGCACTGAGTGACAGGATTATTAACATCCAAGTTATAGTTTGTGCATATAGTTCTGAGGGGGGTTAATATCTAAAAGGAATTAATACATTAACAAAAAAATAAAAACACTTCACACTCCAGAACACTGCTCATGATTTCACCTGCAGTGTGCAGGCTGCAAGGTGCAGAACACCTGGGCTCACACTGTAGCCTGGAGTA... |
Task1_train_7082 | The gene RFT1 (RFT1 glycolipid translocator homolog) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; RFT1-congenital disorder of glycosylation | GAAAGCCAACAGCAAGGAGAAGTCCTAATAACTTCTCCAAGTGAGGCTGGGGAAGCTGATTGTCCTGGCGCCAACGCCCCTGCCTATACCTTGAGTGTGTGTCTGGAGTTGAACGAGGGGAACAGTCCCACAGCCCCTGCCACCAGACAGTTTTCCCTACACTGACACAGATAACAACTGTGTGTGCACAAGTTCTTGAATTTCGTGACTCTTCTATTTATGTTGGGAAATCAGAAAAAATCCAGAAAAACTCTTGTGCGTACCGGATCCTGAGCTAAGCATGGTCCCTCCGTAGATATCCAGAGCCAGCTGAGAATAGG... | GAAAGCCAACAGCAAGGAGAAGTCCTAATAACTTCTCCAAGTGAGGCTGGGGAAGCTGATTGTCCTGGCGCCAACGCCCCTGCCTATACCTTGAGTGTGTGTCTGGAGTTGAACGAGGGGAACAGTCCCACAGCCCCTGCCACCAGACAGTTTTCCCTACACTGACACAGATAACAACTGTGTGTGCACAAGTTCTTGAATTTCGTGACTCTTCTATTTATGTTGGGAAATCAGAAAAAATCCAGAAAAACTCTTGTGCGTACCGGATCCTGAGCTAAGCATGGTCCCTCCGTAGATATCCAGAGCCAGCTGAGAATAGG... |
Task1_train_7083 | A variant found in Chromosome 3 affects RFT1 (RFT1 glycolipid translocator homolog). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; RFT1-congenital disorder of glycosylation | CCAACAGCAAGGAGAAGTCCTAATAACTTCTCCAAGTGAGGCTGGGGAAGCTGATTGTCCTGGCGCCAACGCCCCTGCCTATACCTTGAGTGTGTGTCTGGAGTTGAACGAGGGGAACAGTCCCACAGCCCCTGCCACCAGACAGTTTTCCCTACACTGACACAGATAACAACTGTGTGTGCACAAGTTCTTGAATTTCGTGACTCTTCTATTTATGTTGGGAAATCAGAAAAAATCCAGAAAAACTCTTGTGCGTACCGGATCCTGAGCTAAGCATGGTCCCTCCGTAGATATCCAGAGCCAGCTGAGAATAGGCAAAG... | CCAACAGCAAGGAGAAGTCCTAATAACTTCTCCAAGTGAGGCTGGGGAAGCTGATTGTCCTGGCGCCAACGCCCCTGCCTATACCTTGAGTGTGTGTCTGGAGTTGAACGAGGGGAACAGTCCCACAGCCCCTGCCACCAGACAGTTTTCCCTACACTGACACAGATAACAACTGTGTGTGCACAAGTTCTTGAATTTCGTGACTCTTCTATTTATGTTGGGAAATCAGAAAAAATCCAGAAAAACTCTTGTGCGTACCGGATCCTGAGCTAAGCATGGTCCCTCCGTAGATATCCAGAGCCAGCTGAGAATAGGCAAAG... |
Task1_train_7084 | Here is a genetic alteration in RFT1 (RFT1 glycolipid translocator homolog) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; RFT1-congenital disorder of glycosylation | CCAACAGCAAGGAGAAGTCCTAATAACTTCTCCAAGTGAGGCTGGGGAAGCTGATTGTCCTGGCGCCAACGCCCCTGCCTATACCTTGAGTGTGTGTCTGGAGTTGAACGAGGGGAACAGTCCCACAGCCCCTGCCACCAGACAGTTTTCCCTACACTGACACAGATAACAACTGTGTGTGCACAAGTTCTTGAATTTCGTGACTCTTCTATTTATGTTGGGAAATCAGAAAAAATCCAGAAAAACTCTTGTGCGTACCGGATCCTGAGCTAAGCATGGTCCCTCCGTAGATATCCAGAGCCAGCTGAGAATAGGCAAAG... | CCAACAGCAAGGAGAAGTCCTAATAACTTCTCCAAGTGAGGCTGGGGAAGCTGATTGTCCTGGCGCCAACGCCCCTGCCTATACCTTGAGTGTGTGTCTGGAGTTGAACGAGGGGAACAGTCCCACAGCCCCTGCCACCAGACAGTTTTCCCTACACTGACACAGATAACAACTGTGTGTGCACAAGTTCTTGAATTTCGTGACTCTTCTATTTATGTTGGGAAATCAGAAAAAATCCAGAAAAACTCTTGTGCGTACCGGATCCTGAGCTAAGCATGGTCCCTCCGTAGATATCCAGAGCCAGCTGAGAATAGGCAAAG... |
Task1_train_7085 | A variant found in Chromosome 3 affects RFT1 (RFT1 glycolipid translocator homolog). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; RFT1-congenital disorder of glycosylation | TTCCAGCCTGGGTGACAGAGTGAGACCCTATCTACAAAAACAAAAAACAAAAAACAAAAAAAACCACCAGGGATTTCAACTTTTTTAGAGCTGTAGTTTTAAAAATATATCGAATCTGAGGATCTCAGTCAGGCAACTTCCTTATTTCACAGCCAAGGAGATGGAGGCCCTGAGAAGTTCCTAATGGCACTCTGCCAGTCAGGGAGTCAGGCTAGGGGGATCCAACCATGGAGCAGGCTCCTGGCACCACATTCAGGTCGAGCTCTGGAGGCTTTAGTTTGCAGTAAACTTAAACCAGCTGCTGCAAAGACATGTCTAGA... | TTCCAGCCTGGGTGACAGAGTGAGACCCTATCTACAAAAACAAAAAACAAAAAACAAAAAAAACCACCAGGGATTTCAACTTTTTTAGAGCTGTAGTTTTAAAAATATATCGAATCTGAGGATCTCAGTCAGGCAACTTCCTTATTTCACAGCCAAGGAGATGGAGGCCCTGAGAAGTTCCTAATGGCACTCTGCCAGTCAGGGAGTCAGGCTAGGGGGATCCAACCATGGAGCAGGCTCCTGGCACCACATTCAGGTCGAGCTCTGGAGGCTTTAGTTTGCAGTAAACTTAAACCAGCTGCTGCAAAGACATGTCTAGA... |
Task1_train_7086 | Here is a mutation in PRKCD (protein kinase C delta) on Chromosome 3. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD | TTCCCTCTCCCTAGAAAAGCCAGCCTGGGCTAGAGCGGCAACTGGGGAGATGTGGGGGTAGCCTGGGTCGGCACCACACAGGAAGCCATGGGTGGCAAGTGAACTGCGGCTGGGTGCGCAGCGCAAATACTCTGGGTCCTGGCCGCTCCGTGGGCCACAGCCAGGGCAGCCTTGCAAATGGTGGTCCTGCATGACACAGGACACAGGACCCTGGTGCGTGGCCCCCAGACCTGCTTCTCCCCATTCACATGCCCCTTACCCCAAACTAACCGTGTATGTGTGTGTGTGTGTGTGCATGCATGCAAACACATATGTACATG... | TTCCCTCTCCCTAGAAAAGCCAGCCTGGGCTAGAGCGGCAACTGGGGAGATGTGGGGGTAGCCTGGGTCGGCACCACACAGGAAGCCATGGGTGGCAAGTGAACTGCGGCTGGGTGCGCAGCGCAAATACTCTGGGTCCTGGCCGCTCCGTGGGCCACAGCCAGGGCAGCCTTGCAAATGGTGGTCCTGCATGACACAGGACACAGGACCCTGGTGCGTGGCCCCCAGACCTGCTTCTCCCCATTCACATGCCCCTTACCCCAAACTAACCGTGTATGTGTGTGTGTGTGTGTGCATGCATGCAAACACATATGTACATG... |
Task1_train_7087 | This variant affects the gene TKT (transketolase) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Transketolase deficiency | CAGACCGAAGGCAACTTTCCACCAGGTAGACTGGCTGCAGGTGGGCTACTCCCACAGACTGCACCAGGCAGAGGGGCAGGAACCACGCGCACTGGGTCTGTGGCATGCAGCTCCGGGCCTGGACCACAGGGCTCAGCTCATCCTTGCCTGTCTTGGAGAACCCAACTCAGGAGGGTGGAGAGGTGTCAACCGCTGGACCGGCCAGGGCTGCCAGGATTCTCAGCAGAGACAGACTGGCAATCAGTTGACAATGTCTGCCACGTGGCAGTAAGTGGGGTGTGTATTTCGTTTTTTCTTGTCTAACTTCCACAAGCTACACG... | CAGACCGAAGGCAACTTTCCACCAGGTAGACTGGCTGCAGGTGGGCTACTCCCACAGACTGCACCAGGCAGAGGGGCAGGAACCACGCGCACTGGGTCTGTGGCATGCAGCTCCGGGCCTGGACCACAGGGCTCAGCTCATCCTTGCCTGTCTTGGAGAACCCAACTCAGGAGGGTGGAGAGGTGTCAACCGCTGGACCGGCCAGGGCTGCCAGGATTCTCAGCAGAGACAGACTGGCAATCAGTTGACAATGTCTGCCACGTGGCAGTAAGTGGGGTGTGTATTTCGTTTTTTCTTGTCTAACTTCCACAAGCTACACG... |
Task1_train_7088 | The gene CACNA1D (calcium voltage-gated channel subunit alpha1 D), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | CCTATTTGGCTTCTCGAGGCAAACATTGTGAAATGCACGAGCCTCATTCTGTAAAGTTAAAACCTGGAGCCAGATCATATGCAGGAAAGCACATGCTTAACACCCTAAGGGCTTGCACCTGCAAGGCAAGAGCGATGGCTCTATCCAGACTGTTTGCAGTTCTCATTGGCTGAAAATTCTGGGTGTTGTGGCAGGGTCATACCTTGGGCCATCCATTCTGTCCCCTGACTGGTTCTTAACACCTCCTTCCTGGGAAAGGTGTTTTGCTGAATTTAACATTGACCTGTGCTGCTGGAAAGTTCCATCCAGCTGTGATCCTT... | CCTATTTGGCTTCTCGAGGCAAACATTGTGAAATGCACGAGCCTCATTCTGTAAAGTTAAAACCTGGAGCCAGATCATATGCAGGAAAGCACATGCTTAACACCCTAAGGGCTTGCACCTGCAAGGCAAGAGCGATGGCTCTATCCAGACTGTTTGCAGTTCTCATTGGCTGAAAATTCTGGGTGTTGTGGCAGGGTCATACCTTGGGCCATCCATTCTGTCCCCTGACTGGTTCTTAACACCTCCTTCCTGGGAAAGGTGTTTTGCTGAATTTAACATTGACCTGTGCTGCTGGAAAGTTCCATCCAGCTGTGATCCTT... |
Task1_train_7089 | Consider a variant on Chromosome 3 in gene CACNA1D (calcium voltage-gated channel subunit alpha1 D). Determine its clinical classification and disease relevance. | Pathogenic; not provided | ACTGAAGGTAGGTGGAGGACATGCTACTTGTCTGTTTGGCTGAGCTCATTTTATTTTTATGAAAACACGATTCAATATTGGCTCTTCTCCTAAAGGTATATTTTGAGCATCACTAGTTAGAAAGGGCACCTGATGACTCAGTATGAAGATTCATGTCCTACTCAGCTTTGACAACTCTGCCAGGCTCTGGAGGAACCTCAGAGATTTAAGAAAGGATTGAAAAGGTTCCCTTTAAAAAAAAAAAAACTAGCTTTGTAGCACTTTGCTGCCTGGTAAATTCTGTATGGTGATTGAGATGCTGCAAGAGATGTGTATAATAA... | ACTGAAGGTAGGTGGAGGACATGCTACTTGTCTGTTTGGCTGAGCTCATTTTATTTTTATGAAAACACGATTCAATATTGGCTCTTCTCCTAAAGGTATATTTTGAGCATCACTAGTTAGAAAGGGCACCTGATGACTCAGTATGAAGATTCATGTCCTACTCAGCTTTGACAACTCTGCCAGGCTCTGGAGGAACCTCAGAGATTTAAGAAAGGATTGAAAAGGTTCCCTTTAAAAAAAAAAAAACTAGCTTTGTAGCACTTTGCTGCCTGGTAAATTCTGTATGGTGATTGAGATGCTGCAAGAGATGTGTATAATAA... |
Task1_train_7090 | Assess the clinical impact of this variant on gene WNT5A (Wnt family member 5A), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Autosomal dominant Robinow syndrome 1 | ATTTCTGATCTGAGGCACTGGGCATGTCATATATAGAGATCCCAGCGATACATCCCTGAAGAGGGTGATAGCAAGGTTTTATGGGCTTCCAGAGAGAATGGGGCTGACCCCACCCCCCCCAAATTTTCATGTGGCTCTGGGTCCACCACAGAAGAGGCATCCCACACTGCAGACACCATGGCAGTGAGAGGCCTGAGAAAGGAGAGGCCACACTCTGTCTGTGGCAATTATTTGACCCCTCATGGCAGTACAGGCAAAATTCTGTAGAGTTTAGTCCTTCCCCGGAACACCCAAATGTTTAACAACAAATTTGAGAAGAT... | ATTTCTGATCTGAGGCACTGGGCATGTCATATATAGAGATCCCAGCGATACATCCCTGAAGAGGGTGATAGCAAGGTTTTATGGGCTTCCAGAGAGAATGGGGCTGACCCCACCCCCCCCAAATTTTCATGTGGCTCTGGGTCCACCACAGAAGAGGCATCCCACACTGCAGACACCATGGCAGTGAGAGGCCTGAGAAAGGAGAGGCCACACTCTGTCTGTGGCAATTATTTGACCCCTCATGGCAGTACAGGCAAAATTCTGTAGAGTTTAGTCCTTCCCCGGAACACCCAAATGTTTAACAACAAATTTGAGAAGAT... |
Task1_train_7091 | The gene WNT5A (Wnt family member 5A) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | AGGCACTTGGGGGACCTTTTGCAGGGGAGGATGCCATATGTGCTCTCATCTTCCCAGGACATCAGCTGACTTGATGATAGTATCTAGGAGGGCTGTCTCAGAGGGTGTGGAGAGGTACCACTCCCATCCACTTCCCATCGACCCAGACAGTAGTGCCGTGCAGCTGAAGACCAGAGAGCATACTTTCCAGGGACAATTAAATACAGGCTTTTGTACCAAGGGTTCTGCTTGTTCCCTGAGGAAGCAGGCTCTTTGAATCTTGGACCGCATTTAAAATAAATCTCCAGCAGAACTCAAATTCACTTAGCAAATGATAGCTT... | AGGCACTTGGGGGACCTTTTGCAGGGGAGGATGCCATATGTGCTCTCATCTTCCCAGGACATCAGCTGACTTGATGATAGTATCTAGGAGGGCTGTCTCAGAGGGTGTGGAGAGGTACCACTCCCATCCACTTCCCATCGACCCAGACAGTAGTGCCGTGCAGCTGAAGACCAGAGAGCATACTTTCCAGGGACAATTAAATACAGGCTTTTGTACCAAGGGTTCTGCTTGTTCCCTGAGGAAGCAGGCTCTTTGAATCTTGGACCGCATTTAAAATAAATCTCCAGCAGAACTCAAATTCACTTAGCAAATGATAGCTT... |
Task1_train_7092 | A variant found in Chromosome 3 affects WNT5A (Wnt family member 5A). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Autosomal dominant Robinow syndrome 1 | GGGGACCTTTTGCAGGGGAGGATGCCATATGTGCTCTCATCTTCCCAGGACATCAGCTGACTTGATGATAGTATCTAGGAGGGCTGTCTCAGAGGGTGTGGAGAGGTACCACTCCCATCCACTTCCCATCGACCCAGACAGTAGTGCCGTGCAGCTGAAGACCAGAGAGCATACTTTCCAGGGACAATTAAATACAGGCTTTTGTACCAAGGGTTCTGCTTGTTCCCTGAGGAAGCAGGCTCTTTGAATCTTGGACCGCATTTAAAATAAATCTCCAGCAGAACTCAAATTCACTTAGCAAATGATAGCTTATTCTGAAC... | GGGGACCTTTTGCAGGGGAGGATGCCATATGTGCTCTCATCTTCCCAGGACATCAGCTGACTTGATGATAGTATCTAGGAGGGCTGTCTCAGAGGGTGTGGAGAGGTACCACTCCCATCCACTTCCCATCGACCCAGACAGTAGTGCCGTGCAGCTGAAGACCAGAGAGCATACTTTCCAGGGACAATTAAATACAGGCTTTTGTACCAAGGGTTCTGCTTGTTCCCTGAGGAAGCAGGCTCTTTGAATCTTGGACCGCATTTAAAATAAATCTCCAGCAGAACTCAAATTCACTTAGCAAATGATAGCTTATTCTGAAC... |
Task1_train_7093 | This variant affects the gene WNT5A (Wnt family member 5A) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Autosomal dominant Robinow syndrome 1 | TCCCAGGACATCAGCTGACTTGATGATAGTATCTAGGAGGGCTGTCTCAGAGGGTGTGGAGAGGTACCACTCCCATCCACTTCCCATCGACCCAGACAGTAGTGCCGTGCAGCTGAAGACCAGAGAGCATACTTTCCAGGGACAATTAAATACAGGCTTTTGTACCAAGGGTTCTGCTTGTTCCCTGAGGAAGCAGGCTCTTTGAATCTTGGACCGCATTTAAAATAAATCTCCAGCAGAACTCAAATTCACTTAGCAAATGATAGCTTATTCTGAACATTTTGGCCCAAAACAGGCTACGTATGAAAACGAGAGGAGGA... | TCCCAGGACATCAGCTGACTTGATGATAGTATCTAGGAGGGCTGTCTCAGAGGGTGTGGAGAGGTACCACTCCCATCCACTTCCCATCGACCCAGACAGTAGTGCCGTGCAGCTGAAGACCAGAGAGCATACTTTCCAGGGACAATTAAATACAGGCTTTTGTACCAAGGGTTCTGCTTGTTCCCTGAGGAAGCAGGCTCTTTGAATCTTGGACCGCATTTAAAATAAATCTCCAGCAGAACTCAAATTCACTTAGCAAATGATAGCTTATTCTGAACATTTTGGCCCAAAACAGGCTACGTATGAAAACGAGAGGAGGA... |
Task1_train_7094 | This gene mutation involves IL17RD, LOC126806689 (interleukin 17 receptor D| BRD4-independent group 4 enhancer GRCh37_chr3:57131244-57132443) on Chromosome 3. Is it associated with any clinical condition, or is it benign? | Pathogenic; Hypogonadotropic hypogonadism 18 with anosmia | ACATGGATTCCAGATAGACTGGCACTTGATTTCTGTGGCTATGATGTTAAAAGTGCCTTTTTTCACAAAGCATTTCAAATCAAGGTAGCCAATAGCAAACAGGCAAAGTTTGCAGAGCTCAATGAAGTCTGAATGATTAGTGCAGGTATCTTCCTGTTTTTCTTTACATATTTCCTCCCTACCTCCCACAACAGGCTCTGATCCAAGGACTAACCAAATTTGGCAAGCTGTTGTCAGACCTTATGGACATGCCTTTCAGAGCTCCATATCATTTTAGAAAATTGGAGAGTTTGTCAAGATATCCGGTAAAGGGTTGGGGC... | ACATGGATTCCAGATAGACTGGCACTTGATTTCTGTGGCTATGATGTTAAAAGTGCCTTTTTTCACAAAGCATTTCAAATCAAGGTAGCCAATAGCAAACAGGCAAAGTTTGCAGAGCTCAATGAAGTCTGAATGATTAGTGCAGGTATCTTCCTGTTTTTCTTTACATATTTCCTCCCTACCTCCCACAACAGGCTCTGATCCAAGGACTAACCAAATTTGGCAAGCTGTTGTCAGACCTTATGGACATGCCTTTCAGAGCTCCATATCATTTTAGAAAATTGGAGAGTTTGTCAAGATATCCGGTAAAGGGTTGGGGC... |
Task1_train_7095 | A sequence alteration has been identified in IL17RD, LOC126806689 (interleukin 17 receptor D| BRD4-independent group 4 enhancer GRCh37_chr3:57131244-57132443) on Chromosome 3. Is it disease-inducing or harmless? | Pathogenic; Hypogonadotropic hypogonadism 18 with anosmia | AACAAGTACTGGCCAGCATTTCACTCCAAATATCCTTGTATGAGACCTCAGCTCCAAGTGGGCCATGCAACCAGGGAGATGAGCTGGGGAATCAGAGGGAGGCAGCAGCTAAAGTGGCAATGCTTAGACTCTTTCGTTTTGTTACAAAGGGGCGACCGCGTGGAGTTCATCAGTGTAGCTGCGGCAACCAAGATCTGCTTTGCATGACCCAGAAGAGAGGAGCTTGGAAGGAAGGGCAGGAGGTTCCTCCTCACCTAAGGAGAGAAGAGAGTACAGAGTCACACTGTCATTGCATTTCACTGGGCTGGGCAGGTGCTCAT... | AACAAGTACTGGCCAGCATTTCACTCCAAATATCCTTGTATGAGACCTCAGCTCCAAGTGGGCCATGCAACCAGGGAGATGAGCTGGGGAATCAGAGGGAGGCAGCAGCTAAAGTGGCAATGCTTAGACTCTTTCGTTTTGTTACAAAGGGGCGACCGCGTGGAGTTCATCAGTGTAGCTGCGGCAACCAAGATCTGCTTTGCATGACCCAGAAGAGAGGAGCTTGGAAGGAAGGGCAGGAGGTTCCTCCTCACCTAAGGAGAGAAGAGAGTACAGAGTCACACTGTCATTGCATTTCACTGGGCTGGGCAGGTGCTCAT... |
Task1_train_7096 | The gene HESX1 (HESX homeobox 1), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES | GCTTACCCATCATGTGACACATTCCCCTCCAACCCACTCCTCCAGAGCCTACTCCTGGTAACTTCCAGTCTTTCAATTTAACATAATTTCATAATAACCTAATGGAGAACAAAGAAAACTCTTTGTGGATAAATTTGAACTAATACATTTCATAAATAGTGCTTCCAATTTTTATATGAATGGAAGCAGCTCTTTATATTGGAAAAAGTGGCTCAGTCTTTTTTGGAAAACATGTAATGCCTATGTTCTTCCTAACTACCCTGTTGCCCTTCTTTTCCTCCTCCCTCTCCATCTCAGCAACAGTGGAATAGAATAAGCAC... | GCTTACCCATCATGTGACACATTCCCCTCCAACCCACTCCTCCAGAGCCTACTCCTGGTAACTTCCAGTCTTTCAATTTAACATAATTTCATAATAACCTAATGGAGAACAAAGAAAACTCTTTGTGGATAAATTTGAACTAATACATTTCATAAATAGTGCTTCCAATTTTTATATGAATGGAAGCAGCTCTTTATATTGGAAAAAGTGGCTCAGTCTTTTTTGGAAAACATGTAATGCCTATGTTCTTCCTAACTACCCTGTTGCCCTTCTTTTCCTCCTCCCTCTCCATCTCAGCAACAGTGGAATAGAATAAGCAC... |
Task1_train_7097 | This genomic variant is located on Chromosome 3, within the HESX1 (HESX homeobox 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Septo-optic dysplasia sequence | GCTTACCCATCATGTGACACATTCCCCTCCAACCCACTCCTCCAGAGCCTACTCCTGGTAACTTCCAGTCTTTCAATTTAACATAATTTCATAATAACCTAATGGAGAACAAAGAAAACTCTTTGTGGATAAATTTGAACTAATACATTTCATAAATAGTGCTTCCAATTTTTATATGAATGGAAGCAGCTCTTTATATTGGAAAAAGTGGCTCAGTCTTTTTTGGAAAACATGTAATGCCTATGTTCTTCCTAACTACCCTGTTGCCCTTCTTTTCCTCCTCCCTCTCCATCTCAGCAACAGTGGAATAGAATAAGCAC... | GCTTACCCATCATGTGACACATTCCCCTCCAACCCACTCCTCCAGAGCCTACTCCTGGTAACTTCCAGTCTTTCAATTTAACATAATTTCATAATAACCTAATGGAGAACAAAGAAAACTCTTTGTGGATAAATTTGAACTAATACATTTCATAAATAGTGCTTCCAATTTTTATATGAATGGAAGCAGCTCTTTATATTGGAAAAAGTGGCTCAGTCTTTTTTGGAAAACATGTAATGCCTATGTTCTTCCTAACTACCCTGTTGCCCTTCTTTTCCTCCTCCCTCTCCATCTCAGCAACAGTGGAATAGAATAAGCAC... |
Task1_train_7098 | The gene HESX1 (HESX homeobox 1) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Inborn genetic diseases | GCTTACCCATCATGTGACACATTCCCCTCCAACCCACTCCTCCAGAGCCTACTCCTGGTAACTTCCAGTCTTTCAATTTAACATAATTTCATAATAACCTAATGGAGAACAAAGAAAACTCTTTGTGGATAAATTTGAACTAATACATTTCATAAATAGTGCTTCCAATTTTTATATGAATGGAAGCAGCTCTTTATATTGGAAAAAGTGGCTCAGTCTTTTTTGGAAAACATGTAATGCCTATGTTCTTCCTAACTACCCTGTTGCCCTTCTTTTCCTCCTCCCTCTCCATCTCAGCAACAGTGGAATAGAATAAGCAC... | GCTTACCCATCATGTGACACATTCCCCTCCAACCCACTCCTCCAGAGCCTACTCCTGGTAACTTCCAGTCTTTCAATTTAACATAATTTCATAATAACCTAATGGAGAACAAAGAAAACTCTTTGTGGATAAATTTGAACTAATACATTTCATAAATAGTGCTTCCAATTTTTATATGAATGGAAGCAGCTCTTTATATTGGAAAAAGTGGCTCAGTCTTTTTTGGAAAACATGTAATGCCTATGTTCTTCCTAACTACCCTGTTGCCCTTCTTTTCCTCCTCCCTCTCCATCTCAGCAACAGTGGAATAGAATAAGCAC... |
Task1_train_7099 | This is a variant in HESX1 (HESX homeobox 1), located on Chromosome 3. Is this mutation a likely cause of disease or not? | Pathogenic; GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES | CTTACCCATCATGTGACACATTCCCCTCCAACCCACTCCTCCAGAGCCTACTCCTGGTAACTTCCAGTCTTTCAATTTAACATAATTTCATAATAACCTAATGGAGAACAAAGAAAACTCTTTGTGGATAAATTTGAACTAATACATTTCATAAATAGTGCTTCCAATTTTTATATGAATGGAAGCAGCTCTTTATATTGGAAAAAGTGGCTCAGTCTTTTTTGGAAAACATGTAATGCCTATGTTCTTCCTAACTACCCTGTTGCCCTTCTTTTCCTCCTCCCTCTCCATCTCAGCAACAGTGGAATAGAATAAGCACG... | CTTACCCATCATGTGACACATTCCCCTCCAACCCACTCCTCCAGAGCCTACTCCTGGTAACTTCCAGTCTTTCAATTTAACATAATTTCATAATAACCTAATGGAGAACAAAGAAAACTCTTTGTGGATAAATTTGAACTAATACATTTCATAAATAGTGCTTCCAATTTTTATATGAATGGAAGCAGCTCTTTATATTGGAAAAAGTGGCTCAGTCTTTTTTGGAAAACATGTAATGCCTATGTTCTTCCTAACTACCCTGTTGCCCTTCTTTTCCTCCTCCCTCTCCATCTCAGCAACAGTGGAATAGAATAAGCACG... |
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