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_14000 | This mutation is located in gene PRF1 (perforin 1) on Chromosome 10. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Familial hemophagocytic lymphohistiocytosis 2 | GGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGA... | GGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGA... |
Task1_train_14001 | Chromosome 10 houses a mutation in gene PRF1 (perforin 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Aplastic anemia | GGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGA... | GGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGA... |
Task1_train_14002 | This alteration occurs within gene PRF1 (perforin 1) located on Chromosome 10. Is it associated with a disease or is it a benign variant? | Pathogenic; Familial hemophagocytic lymphohistiocytosis 2 | GGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGA... | GGTGTAGTCCACCAGGCCAGGGCTGCCGGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGA... |
Task1_train_14003 | A sequence alteration has been identified in PRF1 (perforin 1) on Chromosome 10. Is it disease-inducing or harmless? | Pathogenic; Familial hemophagocytic lymphohistiocytosis 2 | GGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCA... | GGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCA... |
Task1_train_14004 | Gene PRF1 (perforin 1), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Aplastic anemia | GGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCA... | GGGCAGCGAGTTTACCCAGGCTGAGTACTGCTCGGGCCCGGCCTGGATCCCGAACAGCAGGTCGTTAATGGAGGTGTGATGGCCGCCAACCACTTCCGAGTGGCGCTCCCGGTAGGTTTGGTGGAAGGAGGCCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCA... |
Task1_train_14005 | This alteration in PRF1 (perforin 1) on Chromosome 10 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Familial hemophagocytic lymphohistiocytosis 2 | CCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACC... | CCGTCATCTTGTGCTTCTTCTTCTTCTCCTCACAGGCCTTGGCTTCGGCAGAGATGCTGCCGTGGATGCCTATGTTGACCTGGGCCTCGACAGTCAGGCAGTCCTCCACCTCGTTGTCCGTGAGCCCTTCCAGGGCCAGCTCGCAGGTGCGCAGGGCAGTGAGGGCCGATATGCGGCCACCCAGCTCCACAGCCCGGATGAAGTGGGTGCCGTAGTTGGAGATAAGCCTGAGGTAGGCGGGCTGGGTGGAGGCGTTGAAGTGGTGGGGCAGGTCCCCGAGGGCCCTCTTGAAGTCAGGGTGCAGCGGGGGAGTGTGTACC... |
Task1_train_14006 | This sequence change occurs on Chromosome 10, altering SGPL1 (sphingosine-1-phosphate lyase 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Nephrotic syndrome 14 | CCATGGCACTCCAGTCTAGGTGAAAGATTGAGACCCCATCTCAAAAAAAAACAAAAAAGAAAAAAGTAGAATTTAGGTATTCCTACTTTTACAGTCAAAAGTCCACTGGTGTTTGCATAACAATGATGTTTTGACTAGTTATTGGACTAAAAGTAGGACACATGAAGCAGGTGACTAGGAATTTGGAAATATTATTGCTTAGGTCATTACTGGACCTTACGAAGAGATTGTTGCACTGGTGACTTGGACTTTGCTGGTCCCTCCCCGACTCTTCACAGCTGGCTTGACGACTCTTGTGACATTCTGAGGTTTTATGCTAA... | CCATGGCACTCCAGTCTAGGTGAAAGATTGAGACCCCATCTCAAAAAAAAACAAAAAAGAAAAAAGTAGAATTTAGGTATTCCTACTTTTACAGTCAAAAGTCCACTGGTGTTTGCATAACAATGATGTTTTGACTAGTTATTGGACTAAAAGTAGGACACATGAAGCAGGTGACTAGGAATTTGGAAATATTATTGCTTAGGTCATTACTGGACCTTACGAAGAGATTGTTGCACTGGTGACTTGGACTTTGCTGGTCCCTCCCCGACTCTTCACAGCTGGCTTGACGACTCTTGTGACATTCTGAGGTTTTATGCTAA... |
Task1_train_14007 | A mutation on Chromosome 10 affecting SGPL1 (sphingosine-1-phosphate lyase 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Nephrotic syndrome 14 | CATGGCACTCCAGTCTAGGTGAAAGATTGAGACCCCATCTCAAAAAAAAACAAAAAAGAAAAAAGTAGAATTTAGGTATTCCTACTTTTACAGTCAAAAGTCCACTGGTGTTTGCATAACAATGATGTTTTGACTAGTTATTGGACTAAAAGTAGGACACATGAAGCAGGTGACTAGGAATTTGGAAATATTATTGCTTAGGTCATTACTGGACCTTACGAAGAGATTGTTGCACTGGTGACTTGGACTTTGCTGGTCCCTCCCCGACTCTTCACAGCTGGCTTGACGACTCTTGTGACATTCTGAGGTTTTATGCTAAA... | CATGGCACTCCAGTCTAGGTGAAAGATTGAGACCCCATCTCAAAAAAAAACAAAAAAGAAAAAAGTAGAATTTAGGTATTCCTACTTTTACAGTCAAAAGTCCACTGGTGTTTGCATAACAATGATGTTTTGACTAGTTATTGGACTAAAAGTAGGACACATGAAGCAGGTGACTAGGAATTTGGAAATATTATTGCTTAGGTCATTACTGGACCTTACGAAGAGATTGTTGCACTGGTGACTTGGACTTTGCTGGTCCCTCCCCGACTCTTCACAGCTGGCTTGACGACTCTTGTGACATTCTGAGGTTTTATGCTAAA... |
Task1_train_14008 | This gene mutation involves SLC29A3 (solute carrier family 29 member 3) on Chromosome 10. Is it associated with any clinical condition, or is it benign? | Pathogenic; H syndrome | TGCAATGTCCATCTCCCGAGTTTAGGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGTTGCACACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCATTGGGTCAGGCTGGTCTTGAACTCCTAACCTCAAGTGACCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAAGGATGACAAGAACCTGTCTTCTACCGAAGGAGACACATGATAAACAAGTAAACCAATGCAATTACTGTAGATTGTGGTTAGTTCTTTTGAAGGAACTAAACAGGTGCCTCTGGTAGAGA... | TGCAATGTCCATCTCCCGAGTTTAGGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGTTGCACACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCATTGGGTCAGGCTGGTCTTGAACTCCTAACCTCAAGTGACCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAAGGATGACAAGAACCTGTCTTCTACCGAAGGAGACACATGATAAACAAGTAAACCAATGCAATTACTGTAGATTGTGGTTAGTTCTTTTGAAGGAACTAAACAGGTGCCTCTGGTAGAGA... |
Task1_train_14009 | A variant has been detected on Chromosome 10 in SLC29A3 (solute carrier family 29 member 3). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; H syndrome | GGGATTACAAGGATGACAAGAACCTGTCTTCTACCGAAGGAGACACATGATAAACAAGTAAACCAATGCAATTACTGTAGATTGTGGTTAGTTCTTTTGAAGGAACTAAACAGGTGCCTCTGGTAGAGATGAACAGGGCAAGTTACTTCAGTTAGGGTGGGTAAATGGTGCTGGGCAGAGTTAAACTGGTAGTACCTATTAGGAGAGCAGTTTATCAGTAGCTATCAAAATGTTAAAGGTATAAACCTTTTAATCCAGTAATTTCCTCTTCTAGAAATCTGCCCTACCAAAATACTAGTATACATGTGCAAGGATTTATG... | GGGATTACAAGGATGACAAGAACCTGTCTTCTACCGAAGGAGACACATGATAAACAAGTAAACCAATGCAATTACTGTAGATTGTGGTTAGTTCTTTTGAAGGAACTAAACAGGTGCCTCTGGTAGAGATGAACAGGGCAAGTTACTTCAGTTAGGGTGGGTAAATGGTGCTGGGCAGAGTTAAACTGGTAGTACCTATTAGGAGAGCAGTTTATCAGTAGCTATCAAAATGTTAAAGGTATAAACCTTTTAATCCAGTAATTTCCTCTTCTAGAAATCTGCCCTACCAAAATACTAGTATACATGTGCAAGGATTTATG... |
Task1_train_14010 | A variant was discovered in gene SLC29A3 (solute carrier family 29 member 3), Chromosome 10. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; H syndrome | CTACCGAAGGAGACACATGATAAACAAGTAAACCAATGCAATTACTGTAGATTGTGGTTAGTTCTTTTGAAGGAACTAAACAGGTGCCTCTGGTAGAGATGAACAGGGCAAGTTACTTCAGTTAGGGTGGGTAAATGGTGCTGGGCAGAGTTAAACTGGTAGTACCTATTAGGAGAGCAGTTTATCAGTAGCTATCAAAATGTTAAAGGTATAAACCTTTTAATCCAGTAATTTCCTCTTCTAGAAATCTGCCCTACCAAAATACTAGTATACATGTGCAAGGATTTATGTGTAGGGATATTCATTGCAACATTGTCTGT... | CTACCGAAGGAGACACATGATAAACAAGTAAACCAATGCAATTACTGTAGATTGTGGTTAGTTCTTTTGAAGGAACTAAACAGGTGCCTCTGGTAGAGATGAACAGGGCAAGTTACTTCAGTTAGGGTGGGTAAATGGTGCTGGGCAGAGTTAAACTGGTAGTACCTATTAGGAGAGCAGTTTATCAGTAGCTATCAAAATGTTAAAGGTATAAACCTTTTAATCCAGTAATTTCCTCTTCTAGAAATCTGCCCTACCAAAATACTAGTATACATGTGCAAGGATTTATGTGTAGGGATATTCATTGCAACATTGTCTGT... |
Task1_train_14011 | A mutation found in SLC29A3 (solute carrier family 29 member 3) on Chromosome 10 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; SLC29A3-related disorder | GCAATTACTGTAGATTGTGGTTAGTTCTTTTGAAGGAACTAAACAGGTGCCTCTGGTAGAGATGAACAGGGCAAGTTACTTCAGTTAGGGTGGGTAAATGGTGCTGGGCAGAGTTAAACTGGTAGTACCTATTAGGAGAGCAGTTTATCAGTAGCTATCAAAATGTTAAAGGTATAAACCTTTTAATCCAGTAATTTCCTCTTCTAGAAATCTGCCCTACCAAAATACTAGTATACATGTGCAAGGATTTATGTGTAGGGATATTCATTGCAACATTGTCTGTAGTAATGAAAAGTCGAGGCAACCTAAGTGTCCATCAG... | GCAATTACTGTAGATTGTGGTTAGTTCTTTTGAAGGAACTAAACAGGTGCCTCTGGTAGAGATGAACAGGGCAAGTTACTTCAGTTAGGGTGGGTAAATGGTGCTGGGCAGAGTTAAACTGGTAGTACCTATTAGGAGAGCAGTTTATCAGTAGCTATCAAAATGTTAAAGGTATAAACCTTTTAATCCAGTAATTTCCTCTTCTAGAAATCTGCCCTACCAAAATACTAGTATACATGTGCAAGGATTTATGTGTAGGGATATTCATTGCAACATTGTCTGTAGTAATGAAAAGTCGAGGCAACCTAAGTGTCCATCAG... |
Task1_train_14012 | The following genetic variant occurs in CDH23 (cadherin related 23) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | CTACCCTGTTTCCTGTTGTTGTTGTTGTTGTTAAATATTTGGTAGAATTCACCAGTGAAGCTGTTGAGTCCTGTGCTTTTCTTTGTTGGAAGATTTTTGATTACCGAATCAAATAAACATAAAAGCATAATGTTGAATTAAAAAGCAAGCTTCAGAGTGATCTATTGTATATGAAAACCATCTATTTACAAATACCCACAAAACAGTATCTTATATTATTCATGGCTAGATATAGATACATATGAAGTACAAAAGCAGACTTTCACACAGGGGGCTGGCAGCTCTGAAATCAGAATGTGGCCCTCCTTTCTTGTGGCAGG... | CTACCCTGTTTCCTGTTGTTGTTGTTGTTGTTAAATATTTGGTAGAATTCACCAGTGAAGCTGTTGAGTCCTGTGCTTTTCTTTGTTGGAAGATTTTTGATTACCGAATCAAATAAACATAAAAGCATAATGTTGAATTAAAAAGCAAGCTTCAGAGTGATCTATTGTATATGAAAACCATCTATTTACAAATACCCACAAAACAGTATCTTATATTATTCATGGCTAGATATAGATACATATGAAGTACAAAAGCAGACTTTCACACAGGGGGCTGGCAGCTCTGAAATCAGAATGTGGCCCTCCTTTCTTGTGGCAGG... |
Task1_train_14013 | A change on Chromosome 10 affects gene CDH23 (cadherin related 23). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Nonsyndromic genetic hearing loss | CAGGATCACTCCCCTTTCCCCACCACAGAGTCCAGAGTGGGCTGGGCAGGGGCATTTGTGGCATGAACAGGACTGCAGTCACAGGTATGGGACAGAGAGGGCCTGTGCCAGGCTAGACAAAAGCCAGCTGCCTGCAAAAGCCTGGTTATGGCAAATCAGAGCCACTGGCATCCCCTGTCCAAGAGGTCAGGGGACTTGTTTTGAGCTTCCCCGCTCCAGCCCTGGGTGCCTGGTGGTCATTCAGGTCCCTAGCTGGGAGCTCTCCCCATGGGCAGTGCCCAAGCCTGCCGTGTGGGCCCCAGTCCTGGAGCCTGGGAGGC... | CAGGATCACTCCCCTTTCCCCACCACAGAGTCCAGAGTGGGCTGGGCAGGGGCATTTGTGGCATGAACAGGACTGCAGTCACAGGTATGGGACAGAGAGGGCCTGTGCCAGGCTAGACAAAAGCCAGCTGCCTGCAAAAGCCTGGTTATGGCAAATCAGAGCCACTGGCATCCCCTGTCCAAGAGGTCAGGGGACTTGTTTTGAGCTTCCCCGCTCCAGCCCTGGGTGCCTGGTGGTCATTCAGGTCCCTAGCTGGGAGCTCTCCCCATGGGCAGTGCCCAAGCCTGCCGTGTGGGCCCCAGTCCTGGAGCCTGGGAGGC... |
Task1_train_14014 | This genomic variant is located on Chromosome 10, within the CDH23 (cadherin related 23) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Pituitary adenoma 5, multiple types | TCTCCATACCTCTCCGGCTCCTTCTGTCTGTCTCCATATCCTTTGACTGACCGACTCCCATTGACAGAATTTGGTAAGTGAGCCTCTGAAGGGCAGGGGTTGGGCTTGGGGAGGGCTTGTGGTGGGCACAGTGGGGAGGGGCTTTGAAAAGGGCACAGCTCAGCCCTCCCCCACCCTCTCAGGCCCCCAGCTCCTGTGGTTGAGGGACCAAAGGTTCAGGGGAAGGAGAGGAGTTGGTGTCACCTGTTCAAACTGTCACACCCCACTGGCTTCAGCTATTAGTGCCCCTTCGGGCATTTAATTGGTCCCTTCCATGTGAC... | TCTCCATACCTCTCCGGCTCCTTCTGTCTGTCTCCATATCCTTTGACTGACCGACTCCCATTGACAGAATTTGGTAAGTGAGCCTCTGAAGGGCAGGGGTTGGGCTTGGGGAGGGCTTGTGGTGGGCACAGTGGGGAGGGGCTTTGAAAAGGGCACAGCTCAGCCCTCCCCCACCCTCTCAGGCCCCCAGCTCCTGTGGTTGAGGGACCAAAGGTTCAGGGGAAGGAGAGGAGTTGGTGTCACCTGTTCAAACTGTCACACCCCACTGGCTTCAGCTATTAGTGCCCCTTCGGGCATTTAATTGGTCCCTTCCATGTGAC... |
Task1_train_14015 | With a mutation on Chromosome 10 in gene CDH23 (cadherin related 23), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 12 | TCTCCATACCTCTCCGGCTCCTTCTGTCTGTCTCCATATCCTTTGACTGACCGACTCCCATTGACAGAATTTGGTAAGTGAGCCTCTGAAGGGCAGGGGTTGGGCTTGGGGAGGGCTTGTGGTGGGCACAGTGGGGAGGGGCTTTGAAAAGGGCACAGCTCAGCCCTCCCCCACCCTCTCAGGCCCCCAGCTCCTGTGGTTGAGGGACCAAAGGTTCAGGGGAAGGAGAGGAGTTGGTGTCACCTGTTCAAACTGTCACACCCCACTGGCTTCAGCTATTAGTGCCCCTTCGGGCATTTAATTGGTCCCTTCCATGTGAC... | TCTCCATACCTCTCCGGCTCCTTCTGTCTGTCTCCATATCCTTTGACTGACCGACTCCCATTGACAGAATTTGGTAAGTGAGCCTCTGAAGGGCAGGGGTTGGGCTTGGGGAGGGCTTGTGGTGGGCACAGTGGGGAGGGGCTTTGAAAAGGGCACAGCTCAGCCCTCCCCCACCCTCTCAGGCCCCCAGCTCCTGTGGTTGAGGGACCAAAGGTTCAGGGGAAGGAGAGGAGTTGGTGTCACCTGTTCAAACTGTCACACCCCACTGGCTTCAGCTATTAGTGCCCCTTCGGGCATTTAATTGGTCCCTTCCATGTGAC... |
Task1_train_14016 | This alteration in CDH23 (cadherin related 23) on Chromosome 10 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Usher syndrome type 1D | TCTCCATACCTCTCCGGCTCCTTCTGTCTGTCTCCATATCCTTTGACTGACCGACTCCCATTGACAGAATTTGGTAAGTGAGCCTCTGAAGGGCAGGGGTTGGGCTTGGGGAGGGCTTGTGGTGGGCACAGTGGGGAGGGGCTTTGAAAAGGGCACAGCTCAGCCCTCCCCCACCCTCTCAGGCCCCCAGCTCCTGTGGTTGAGGGACCAAAGGTTCAGGGGAAGGAGAGGAGTTGGTGTCACCTGTTCAAACTGTCACACCCCACTGGCTTCAGCTATTAGTGCCCCTTCGGGCATTTAATTGGTCCCTTCCATGTGAC... | TCTCCATACCTCTCCGGCTCCTTCTGTCTGTCTCCATATCCTTTGACTGACCGACTCCCATTGACAGAATTTGGTAAGTGAGCCTCTGAAGGGCAGGGGTTGGGCTTGGGGAGGGCTTGTGGTGGGCACAGTGGGGAGGGGCTTTGAAAAGGGCACAGCTCAGCCCTCCCCCACCCTCTCAGGCCCCCAGCTCCTGTGGTTGAGGGACCAAAGGTTCAGGGGAAGGAGAGGAGTTGGTGTCACCTGTTCAAACTGTCACACCCCACTGGCTTCAGCTATTAGTGCCCCTTCGGGCATTTAATTGGTCCCTTCCATGTGAC... |
Task1_train_14017 | This variant impacts the gene CDH23 (cadherin related 23) on Chromosome 10. Is the change likely to result in a pathogenic outcome? | Pathogenic; Pituitary adenoma 5, multiple types | TCTCCATACCTCTCCGGCTCCTTCTGTCTGTCTCCATATCCTTTGACTGACCGACTCCCATTGACAGAATTTGGTAAGTGAGCCTCTGAAGGGCAGGGGTTGGGCTTGGGGAGGGCTTGTGGTGGGCACAGTGGGGAGGGGCTTTGAAAAGGGCACAGCTCAGCCCTCCCCCACCCTCTCAGGCCCCCAGCTCCTGTGGTTGAGGGACCAAAGGTTCAGGGGAAGGAGAGGAGTTGGTGTCACCTGTTCAAACTGTCACACCCCACTGGCTTCAGCTATTAGTGCCCCTTCGGGCATTTAATTGGTCCCTTCCATGTGAC... | TCTCCATACCTCTCCGGCTCCTTCTGTCTGTCTCCATATCCTTTGACTGACCGACTCCCATTGACAGAATTTGGTAAGTGAGCCTCTGAAGGGCAGGGGTTGGGCTTGGGGAGGGCTTGTGGTGGGCACAGTGGGGAGGGGCTTTGAAAAGGGCACAGCTCAGCCCTCCCCCACCCTCTCAGGCCCCCAGCTCCTGTGGTTGAGGGACCAAAGGTTCAGGGGAAGGAGAGGAGTTGGTGTCACCTGTTCAAACTGTCACACCCCACTGGCTTCAGCTATTAGTGCCCCTTCGGGCATTTAATTGGTCCCTTCCATGTGAC... |
Task1_train_14018 | Located on Chromosome 10, this mutation impacts CDH23 (cadherin related 23). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Usher syndrome | TCTCCATACCTCTCCGGCTCCTTCTGTCTGTCTCCATATCCTTTGACTGACCGACTCCCATTGACAGAATTTGGTAAGTGAGCCTCTGAAGGGCAGGGGTTGGGCTTGGGGAGGGCTTGTGGTGGGCACAGTGGGGAGGGGCTTTGAAAAGGGCACAGCTCAGCCCTCCCCCACCCTCTCAGGCCCCCAGCTCCTGTGGTTGAGGGACCAAAGGTTCAGGGGAAGGAGAGGAGTTGGTGTCACCTGTTCAAACTGTCACACCCCACTGGCTTCAGCTATTAGTGCCCCTTCGGGCATTTAATTGGTCCCTTCCATGTGAC... | TCTCCATACCTCTCCGGCTCCTTCTGTCTGTCTCCATATCCTTTGACTGACCGACTCCCATTGACAGAATTTGGTAAGTGAGCCTCTGAAGGGCAGGGGTTGGGCTTGGGGAGGGCTTGTGGTGGGCACAGTGGGGAGGGGCTTTGAAAAGGGCACAGCTCAGCCCTCCCCCACCCTCTCAGGCCCCCAGCTCCTGTGGTTGAGGGACCAAAGGTTCAGGGGAAGGAGAGGAGTTGGTGTCACCTGTTCAAACTGTCACACCCCACTGGCTTCAGCTATTAGTGCCCCTTCGGGCATTTAATTGGTCCCTTCCATGTGAC... |
Task1_train_14019 | The gene CDH23 (cadherin related 23), on Chromosome 10, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Rare genetic deafness | ATCCCCTTAGACCACGGAGAGTCTTTGGGGCCAGGGTGACCTCGCAGCCACCCTCTCACCAGGAACAGGTTTCTAAGAGGAGTCCCACAACATACCCTAAGCAACCAAGATGTGAGGGTGGGCTTCCCTTGCCAGCCACTGGTTCAAGAGAAAAGGGCCCATGTGCCAAGCTGGCCACTGGGCTAGGGGTGGGCTCTGCACCATAAGCCAGAGCCTCTGCCTCTGGACTGAAAGCCAAGGTCAGTGACCTACTGGGCACCTGCAAGAGAGGTCAGAAGGAGGCTCTTACACATCACAGGCCGCCTGCCCAGTTGGAGGGG... | ATCCCCTTAGACCACGGAGAGTCTTTGGGGCCAGGGTGACCTCGCAGCCACCCTCTCACCAGGAACAGGTTTCTAAGAGGAGTCCCACAACATACCCTAAGCAACCAAGATGTGAGGGTGGGCTTCCCTTGCCAGCCACTGGTTCAAGAGAAAAGGGCCCATGTGCCAAGCTGGCCACTGGGCTAGGGGTGGGCTCTGCACCATAAGCCAGAGCCTCTGCCTCTGGACTGAAAGCCAAGGTCAGTGACCTACTGGGCACCTGCAAGAGAGGTCAGAAGGAGGCTCTTACACATCACAGGCCGCCTGCCCAGTTGGAGGGG... |
Task1_train_14020 | Here’s a variant in CDH23 (cadherin related 23) located on Chromosome 10. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 12 | GCGCGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGACCGGCGGATCAATTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGGCCAGGCGTGGTGGTGTGCACCTGTAATCCCAGATACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGGGAGCCCAGGTTGCACCACTGCACTCCAGCCTGGTGACAGAGTGACACTCCGTCTCAAAAAAAAAAAAAAAAAGAAAAAGAAATTGCATTCTCTATGAAAT... | GCGCGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGACCGGCGGATCAATTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGGCCAGGCGTGGTGGTGTGCACCTGTAATCCCAGATACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGGGAGCCCAGGTTGCACCACTGCACTCCAGCCTGGTGACAGAGTGACACTCCGTCTCAAAAAAAAAAAAAAAAAGAAAAAGAAATTGCATTCTCTATGAAAT... |
Task1_train_14021 | A sequence alteration has been identified in CDH23 (cadherin related 23) on Chromosome 10. Is it disease-inducing or harmless? | Pathogenic; Pituitary adenoma 5, multiple types | TAGAGAGAGGGAGAGAGGCAAAGATGGAATTCTGGAAGTCATGTCCAAGTTTCTCAGGGCCTGATTATGGAGGTCTGGCCCAGGACCTTGGACCTTCCATTCCCTAAGCCTGCAGATGGTTCTAGAATACAAAGAAGGCCAGATGAGTGTAGCCCTGGGCATCTGCCTCTCCCATGCCTTCTCATAAGCCCCGGATCAGCTCCCTTTACTACAGTAGAGGGGCCTCTGTCTACTTTGCAGGGCTCTAAAGAGACTTGCCCAAGACCCCTTGGCCAAGCACATGGTCTGATCTTGGGCCTGGCTTCTTTGCCTCCTGTTCC... | TAGAGAGAGGGAGAGAGGCAAAGATGGAATTCTGGAAGTCATGTCCAAGTTTCTCAGGGCCTGATTATGGAGGTCTGGCCCAGGACCTTGGACCTTCCATTCCCTAAGCCTGCAGATGGTTCTAGAATACAAAGAAGGCCAGATGAGTGTAGCCCTGGGCATCTGCCTCTCCCATGCCTTCTCATAAGCCCCGGATCAGCTCCCTTTACTACAGTAGAGGGGCCTCTGTCTACTTTGCAGGGCTCTAAAGAGACTTGCCCAAGACCCCTTGGCCAAGCACATGGTCTGATCTTGGGCCTGGCTTCTTTGCCTCCTGTTCC... |
Task1_train_14022 | With a mutation on Chromosome 10 in gene CDH23 (cadherin related 23), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 12 | GACTAGGTGGGGGCAGGTGAGGGTGGAAAAGAGGTCAGGGCTCTACTGTTGGGCTTTAGCCTCTGGTGGTGCCTCCCGAGGATTTGCTCCTGGCTCTTCCCAAGGGCTTTGCAGCTGGATCACTCTGGACTGGCTCCCTGGGGACCTCCTGAACCTGTTGGTTGCAGGGACGGGGAGCATCTACCAAGGTTCATTCTAGAGGGAGGTAAGGCCCCATGATTCCTAGGGAGGAGCCCTGAGCCCCACTCCCCGCCCCAAGTCTGGGTGACAGAGCAGTGACTTGGAGGAATGTGGCCTCATCCTTCCTTGGGGACCTGTTG... | GACTAGGTGGGGGCAGGTGAGGGTGGAAAAGAGGTCAGGGCTCTACTGTTGGGCTTTAGCCTCTGGTGGTGCCTCCCGAGGATTTGCTCCTGGCTCTTCCCAAGGGCTTTGCAGCTGGATCACTCTGGACTGGCTCCCTGGGGACCTCCTGAACCTGTTGGTTGCAGGGACGGGGAGCATCTACCAAGGTTCATTCTAGAGGGAGGTAAGGCCCCATGATTCCTAGGGAGGAGCCCTGAGCCCCACTCCCCGCCCCAAGTCTGGGTGACAGAGCAGTGACTTGGAGGAATGTGGCCTCATCCTTCCTTGGGGACCTGTTG... |
Task1_train_14023 | Mutation context: Chromosome 10, Gene CDH23 (cadherin related 23). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Pituitary adenoma 5, multiple types | GTACCTGTGATTCCAGCCGCAGTGGCCTGTGGCCGTCCGTGGACTGGAGGCCTCACCCGCGGCAGGCCTTCACTCTCCTGCCTCTCCACAAGAAGCCCGAGCCACAGACACAAAACAATATGCTCTTGCGTGCCATTTGTTGCATGCCCGGTTTTTATTTGACAGTCAGAAATTCACATGCCTTCCCCATCTGCCCTTCTACCCACTGGAACCAAGCCACCTTGCAGCCCCCTCCTGCTCCTGGGCCCATTTCCTTCCCTCTAAGCCCAAGGTTGCAAACAAAGACACCTTCGGGCAATATCTGGCCACCAGATGTGTTT... | GTACCTGTGATTCCAGCCGCAGTGGCCTGTGGCCGTCCGTGGACTGGAGGCCTCACCCGCGGCAGGCCTTCACTCTCCTGCCTCTCCACAAGAAGCCCGAGCCACAGACACAAAACAATATGCTCTTGCGTGCCATTTGTTGCATGCCCGGTTTTTATTTGACAGTCAGAAATTCACATGCCTTCCCCATCTGCCCTTCTACCCACTGGAACCAAGCCACCTTGCAGCCCCCTCCTGCTCCTGGGCCCATTTCCTTCCCTCTAAGCCCAAGGTTGCAAACAAAGACACCTTCGGGCAATATCTGGCCACCAGATGTGTTT... |
Task1_train_14024 | Given this variant in gene CDH23 (cadherin related 23) on Chromosome 10, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Usher syndrome type 1D | GTACCTGTGATTCCAGCCGCAGTGGCCTGTGGCCGTCCGTGGACTGGAGGCCTCACCCGCGGCAGGCCTTCACTCTCCTGCCTCTCCACAAGAAGCCCGAGCCACAGACACAAAACAATATGCTCTTGCGTGCCATTTGTTGCATGCCCGGTTTTTATTTGACAGTCAGAAATTCACATGCCTTCCCCATCTGCCCTTCTACCCACTGGAACCAAGCCACCTTGCAGCCCCCTCCTGCTCCTGGGCCCATTTCCTTCCCTCTAAGCCCAAGGTTGCAAACAAAGACACCTTCGGGCAATATCTGGCCACCAGATGTGTTT... | GTACCTGTGATTCCAGCCGCAGTGGCCTGTGGCCGTCCGTGGACTGGAGGCCTCACCCGCGGCAGGCCTTCACTCTCCTGCCTCTCCACAAGAAGCCCGAGCCACAGACACAAAACAATATGCTCTTGCGTGCCATTTGTTGCATGCCCGGTTTTTATTTGACAGTCAGAAATTCACATGCCTTCCCCATCTGCCCTTCTACCCACTGGAACCAAGCCACCTTGCAGCCCCCTCCTGCTCCTGGGCCCATTTCCTTCCCTCTAAGCCCAAGGTTGCAAACAAAGACACCTTCGGGCAATATCTGGCCACCAGATGTGTTT... |
Task1_train_14025 | This genomic variant is located on Chromosome 10, within the CDH23 (cadherin related 23) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 12 | CCTCCCCAAGCCCAGACCTGGTCTCAGAGCAGGAGGGGCTCCAAGGCCCAACTCTGTTCAAACTCTCCACTCCCAGCCCCTGCAGCCTGCACACTCCATCATGTGTTTGTGCTTGTTTTCATTAAAAATAGTGGTGAAGGCCCCAAATATTCGAATAAAGATGACTGTCAAGGAAAGCCACCATGTCCATCTTGTGGCTCTGCAGGGCCTGGAGGCAGCTGTGAGTACTCTCTACTGGTGAGGGGCCCAGCCTTGAGCCTTCCTGAGTCCCCTTACTTGCCGGCAAGAATACAAGAGCACCACATTGCAGGAAAGGGGCT... | CCTCCCCAAGCCCAGACCTGGTCTCAGAGCAGGAGGGGCTCCAAGGCCCAACTCTGTTCAAACTCTCCACTCCCAGCCCCTGCAGCCTGCACACTCCATCATGTGTTTGTGCTTGTTTTCATTAAAAATAGTGGTGAAGGCCCCAAATATTCGAATAAAGATGACTGTCAAGGAAAGCCACCATGTCCATCTTGTGGCTCTGCAGGGCCTGGAGGCAGCTGTGAGTACTCTCTACTGGTGAGGGGCCCAGCCTTGAGCCTTCCTGAGTCCCCTTACTTGCCGGCAAGAATACAAGAGCACCACATTGCAGGAAAGGGGCT... |
Task1_train_14026 | A variant was discovered on Chromosome 10, affecting CDH23 (cadherin related 23). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Pituitary adenoma 5, multiple types | CCAAGATCCAGAGCTGCATATCAGAGGAATCATTGCCTCCTCAGGGGCAGTGACAGCCTTCTTGGGTCCAGATCCCCTGCCCATCTGTCCATTCTTCCAGTGGTAGCTCCAGAGCCAGCCAGTCCCAAGGAAAAAACCATATGCAAATTGCCTACATTGAGTTGTCTGTACCACCTGCTTTCTGTTCTCTGGCCTGGCAATGGCCTAGTCACGTTCTCTCTACCCAGACACCTTTGCAGTGATTAACACCTTATTATTTTATATTAGTCACTCATTATGATTTGTATTAGTTAGGGTCCTGGCAGGAAACAGATGGCACA... | CCAAGATCCAGAGCTGCATATCAGAGGAATCATTGCCTCCTCAGGGGCAGTGACAGCCTTCTTGGGTCCAGATCCCCTGCCCATCTGTCCATTCTTCCAGTGGTAGCTCCAGAGCCAGCCAGTCCCAAGGAAAAAACCATATGCAAATTGCCTACATTGAGTTGTCTGTACCACCTGCTTTCTGTTCTCTGGCCTGGCAATGGCCTAGTCACGTTCTCTCTACCCAGACACCTTTGCAGTGATTAACACCTTATTATTTTATATTAGTCACTCATTATGATTTGTATTAGTTAGGGTCCTGGCAGGAAACAGATGGCACA... |
Task1_train_14027 | Here is a genetic alteration in CDH23 (cadherin related 23) on Chromosome 10. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 12 | CCAAGATCCAGAGCTGCATATCAGAGGAATCATTGCCTCCTCAGGGGCAGTGACAGCCTTCTTGGGTCCAGATCCCCTGCCCATCTGTCCATTCTTCCAGTGGTAGCTCCAGAGCCAGCCAGTCCCAAGGAAAAAACCATATGCAAATTGCCTACATTGAGTTGTCTGTACCACCTGCTTTCTGTTCTCTGGCCTGGCAATGGCCTAGTCACGTTCTCTCTACCCAGACACCTTTGCAGTGATTAACACCTTATTATTTTATATTAGTCACTCATTATGATTTGTATTAGTTAGGGTCCTGGCAGGAAACAGATGGCACA... | CCAAGATCCAGAGCTGCATATCAGAGGAATCATTGCCTCCTCAGGGGCAGTGACAGCCTTCTTGGGTCCAGATCCCCTGCCCATCTGTCCATTCTTCCAGTGGTAGCTCCAGAGCCAGCCAGTCCCAAGGAAAAAACCATATGCAAATTGCCTACATTGAGTTGTCTGTACCACCTGCTTTCTGTTCTCTGGCCTGGCAATGGCCTAGTCACGTTCTCTCTACCCAGACACCTTTGCAGTGATTAACACCTTATTATTTTATATTAGTCACTCATTATGATTTGTATTAGTTAGGGTCCTGGCAGGAAACAGATGGCACA... |
Task1_train_14028 | This variant affects gene CDH23 (cadherin related 23) located on Chromosome 10. Evaluate its biological effect and specify any disease association. | Pathogenic; Pituitary adenoma 5, multiple types | GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACA... | GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACA... |
Task1_train_14029 | This variant affects the gene CDH23 (cadherin related 23) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Usher syndrome type 1D | GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACA... | GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACA... |
Task1_train_14030 | This sequence variant lies in CDH23 (cadherin related 23) on Chromosome 10. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 12 | GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACA... | GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACA... |
Task1_train_14031 | Consider this mutation in CDH23 (cadherin related 23) on Chromosome 10. Is this a benign change or a disease-causing variant? | Pathogenic; Usher syndrome | GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACA... | GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACA... |
Task1_train_14032 | The gene CDH23 (cadherin related 23) on Chromosome 10 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Pituitary adenoma 5, multiple types | GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACA... | GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACA... |
Task1_train_14033 | A mutation found in CDH23 (cadherin related 23) on Chromosome 10 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 12 | GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACA... | GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACA... |
Task1_train_14034 | A variant has been detected on Chromosome 10 in CDH23 (cadherin related 23). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Childhood onset hearing loss | GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACA... | GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACA... |
Task1_train_14035 | A mutation found in CDH23 (cadherin related 23) on Chromosome 10 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Retinal dystrophy | GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACA... | GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACA... |
Task1_train_14036 | The following genetic variant occurs in CDH23 (cadherin related 23) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Rare genetic deafness | GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACA... | GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACA... |
Task1_train_14037 | A genomic change on Chromosome 10 affects CDH23 (cadherin related 23). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Inborn genetic diseases | GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACA... | GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACA... |
Task1_train_14038 | This variant impacts the gene CDH23 (cadherin related 23) on Chromosome 10. Is the change likely to result in a pathogenic outcome? | Pathogenic; CDH23-related disorder | GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACA... | GGACATATAGGCTCAATAAGACACAGGCCCTCGTAAAGCTCTGAGCTGGGGTGACTACCAGGGTTCATCCCATATGCCAGTCTTAATCACTAGACCACTGTGCTAACAAGGATCCCAAGTTTGCATCTGGCCTCAGCAGTTCTGTGATTGATTAGTGATGTCTGCTGGGGGTCGCAGACATAGGAGTGGTGGTGCCAGTGCCATCTTGGACAGAGCAGTTACCTTACTTGGCTTTTGGTGGAGTTTTTGAGCTTTCTCTCTCTACCAGCCTGTGACCCACCCCCTGCTTTCTTCTCCTTGCCCTTTCTGTTTGAGTCACA... |
Task1_train_14039 | The following genetic variant occurs in CDH23 (cadherin related 23) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Usher syndrome | GGGCTGGTGGGAAATCCCAGCTGCAGGTGGGACTGAGAGGGGCTGTTTTTGTACATCAGAGTGTTAGGAGCTGGGGACAGGGAATTGTGAGGTAGGATGTGAAGAGACAGGCAGAGAAAACTGTGGGGGCGCCTGGGCCCCTGTCCTTGCCATGCCCTGTGAGCTGTGTGCTTCCTGCTGTCTGTCCCAGAGCAAGTCAGTGCCCCATTCTGGGCCCTTCCCCCTAAGTATTCAAAGGGAAAGTGAAGGAGGTAACTAACCTTCTCTCCATTCCATTTCCTGGGGGAATGCGGAGAGGTGGCCTCTCTTCTGCAGGCTCT... | GGGCTGGTGGGAAATCCCAGCTGCAGGTGGGACTGAGAGGGGCTGTTTTTGTACATCAGAGTGTTAGGAGCTGGGGACAGGGAATTGTGAGGTAGGATGTGAAGAGACAGGCAGAGAAAACTGTGGGGGCGCCTGGGCCCCTGTCCTTGCCATGCCCTGTGAGCTGTGTGCTTCCTGCTGTCTGTCCCAGAGCAAGTCAGTGCCCCATTCTGGGCCCTTCCCCCTAAGTATTCAAAGGGAAAGTGAAGGAGGTAACTAACCTTCTCTCCATTCCATTTCCTGGGGGAATGCGGAGAGGTGGCCTCTCTTCTGCAGGCTCT... |
Task1_train_14040 | Given this variant in gene CDH23 (cadherin related 23) on Chromosome 10, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | GCGCCTGGGCCCCTGTCCTTGCCATGCCCTGTGAGCTGTGTGCTTCCTGCTGTCTGTCCCAGAGCAAGTCAGTGCCCCATTCTGGGCCCTTCCCCCTAAGTATTCAAAGGGAAAGTGAAGGAGGTAACTAACCTTCTCTCCATTCCATTTCCTGGGGGAATGCGGAGAGGTGGCCTCTCTTCTGCAGGCTCTCCCAGTTCCCTAGCTCACATCCCCTCAACTTTCTTCCTGCCAGAGCCACAGCCCCCACCATTCTTGCCTCTCCAGCTGGGCTCACGCTTGCTCACTGGTTTCCTTCCCCCTGTCTCTTCTCTCCACCC... | GCGCCTGGGCCCCTGTCCTTGCCATGCCCTGTGAGCTGTGTGCTTCCTGCTGTCTGTCCCAGAGCAAGTCAGTGCCCCATTCTGGGCCCTTCCCCCTAAGTATTCAAAGGGAAAGTGAAGGAGGTAACTAACCTTCTCTCCATTCCATTTCCTGGGGGAATGCGGAGAGGTGGCCTCTCTTCTGCAGGCTCTCCCAGTTCCCTAGCTCACATCCCCTCAACTTTCTTCCTGCCAGAGCCACAGCCCCCACCATTCTTGCCTCTCCAGCTGGGCTCACGCTTGCTCACTGGTTTCCTTCCCCCTGTCTCTTCTCTCCACCC... |
Task1_train_14041 | A sequence alteration has been identified in CDH23 (cadherin related 23) on Chromosome 10. Is it disease-inducing or harmless? | Pathogenic; Nonsyndromic genetic hearing loss | TATGCCTAACGGCATAGCTGAACCTAGACCCCAGTGGGTGCGGGAGGGGAAGGATGGGTGCAGCTCCGGGAGATGGTGGGCTGGGGCTCCCGGGCCTCCTATGAGCACAAAGAAGCCACAGGTCTGGTTGGAAGAGACAGTCGTGGTCATTGTTCCCCAGGGTGGTCTGAGAGCTGCCCCACCATCCCTCAAGAAGGGCATGTAAGGTGTGAGGACTACCCCGGAGGGGAGTGGGTCCACCCCTCACTGCTCCCTCCACCCCAGGAGTGCAGGGCATCCCAGGGCCTTCTGGAAGCCCTGGGGAGCATCTATAACTAGAA... | TATGCCTAACGGCATAGCTGAACCTAGACCCCAGTGGGTGCGGGAGGGGAAGGATGGGTGCAGCTCCGGGAGATGGTGGGCTGGGGCTCCCGGGCCTCCTATGAGCACAAAGAAGCCACAGGTCTGGTTGGAAGAGACAGTCGTGGTCATTGTTCCCCAGGGTGGTCTGAGAGCTGCCCCACCATCCCTCAAGAAGGGCATGTAAGGTGTGAGGACTACCCCGGAGGGGAGTGGGTCCACCCCTCACTGCTCCCTCCACCCCAGGAGTGCAGGGCATCCCAGGGCCTTCTGGAAGCCCTGGGGAGCATCTATAACTAGAA... |
Task1_train_14042 | An alteration has been detected in CDH23 (cadherin related 23) on Chromosome 10. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Usher syndrome | CAGAGGCTTAGGTTCAGCCAGCAGAACTGGTAACCAGGGTGTGGGTAGGATGTGAGATGGGAACCCTATGATCTTATAGGAAGCCACAGGGTTAGCACAAAGGAAGCAAAGAATGAGGGGAGGTAACCTGAGGCCACAGACACTGCTTTGGGGGTGCAGGCACTTACGGTGGAGAACGGAGGGGCCCAGTGTTACCTTCTGCCAATCGGGCCCAGGCCATCCTGCCTGCAGCCTGAGGCGTGGGCTGGGAGGGGGCTGCCAGAGGGGTGGATTTTGTGTGGGCAGAGCGAGAGTTGAGTGGGGGAAGTGGGGATGGGGTG... | CAGAGGCTTAGGTTCAGCCAGCAGAACTGGTAACCAGGGTGTGGGTAGGATGTGAGATGGGAACCCTATGATCTTATAGGAAGCCACAGGGTTAGCACAAAGGAAGCAAAGAATGAGGGGAGGTAACCTGAGGCCACAGACACTGCTTTGGGGGTGCAGGCACTTACGGTGGAGAACGGAGGGGCCCAGTGTTACCTTCTGCCAATCGGGCCCAGGCCATCCTGCCTGCAGCCTGAGGCGTGGGCTGGGAGGGGGCTGCCAGAGGGGTGGATTTTGTGTGGGCAGAGCGAGAGTTGAGTGGGGGAAGTGGGGATGGGGTG... |
Task1_train_14043 | The variant affects gene CDH23 (cadherin related 23), which is on Chromosome 10. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 12 | CAGAGGCTTAGGTTCAGCCAGCAGAACTGGTAACCAGGGTGTGGGTAGGATGTGAGATGGGAACCCTATGATCTTATAGGAAGCCACAGGGTTAGCACAAAGGAAGCAAAGAATGAGGGGAGGTAACCTGAGGCCACAGACACTGCTTTGGGGGTGCAGGCACTTACGGTGGAGAACGGAGGGGCCCAGTGTTACCTTCTGCCAATCGGGCCCAGGCCATCCTGCCTGCAGCCTGAGGCGTGGGCTGGGAGGGGGCTGCCAGAGGGGTGGATTTTGTGTGGGCAGAGCGAGAGTTGAGTGGGGGAAGTGGGGATGGGGTG... | CAGAGGCTTAGGTTCAGCCAGCAGAACTGGTAACCAGGGTGTGGGTAGGATGTGAGATGGGAACCCTATGATCTTATAGGAAGCCACAGGGTTAGCACAAAGGAAGCAAAGAATGAGGGGAGGTAACCTGAGGCCACAGACACTGCTTTGGGGGTGCAGGCACTTACGGTGGAGAACGGAGGGGCCCAGTGTTACCTTCTGCCAATCGGGCCCAGGCCATCCTGCCTGCAGCCTGAGGCGTGGGCTGGGAGGGGGCTGCCAGAGGGGTGGATTTTGTGTGGGCAGAGCGAGAGTTGAGTGGGGGAAGTGGGGATGGGGTG... |
Task1_train_14044 | This variant affects the gene CDH23 (cadherin related 23) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Pituitary adenoma 5, multiple types | CCGGCTAATTTTGTATTTTCAGTAGAGACGGGGTTTCTCCATGTTGGTCGGGCTGGTCTCGAACTCCCGACCTCAGGTGATTCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGATGTGAGCCACCGAGCCCGGCCTATTTATGTCTCTTAAAGAATACTAATGAGGGCTCCAAGTCATAACCCCATTCTCATTCCAGTGTCCACGCAGCTGTTCTGAGGCCAGCATCTCACCCTCTCAGCTCTCAATCCCCTTTTCTATGCAAAGTCCCAGGCCTCAAGGTTTTGCTTCCTCTTTCTCTCTCCTCCCTTCTGTCT... | CCGGCTAATTTTGTATTTTCAGTAGAGACGGGGTTTCTCCATGTTGGTCGGGCTGGTCTCGAACTCCCGACCTCAGGTGATTCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGATGTGAGCCACCGAGCCCGGCCTATTTATGTCTCTTAAAGAATACTAATGAGGGCTCCAAGTCATAACCCCATTCTCATTCCAGTGTCCACGCAGCTGTTCTGAGGCCAGCATCTCACCCTCTCAGCTCTCAATCCCCTTTTCTATGCAAAGTCCCAGGCCTCAAGGTTTTGCTTCCTCTTTCTCTCTCCTCCCTTCTGTCT... |
Task1_train_14045 | The gene CDH23, LOC111982869 (cadherin related 23| Sharpr-MPRA regulatory region 2121), on Chromosome 10, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | CTAAAAATGCAAAAAAAAAAAAAAAAAAAAAAGGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGACGCAGGATAATCGCTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCAAGATCACACCACTACACTCCAGCCCGGGCAACAGAGTGAGACTTTGTCAAAAAAAAAAAAAAAAAAAATCTTTAGTTGAAGTCTAACTCTATCGCTTATCAGCCCAACGACTTTGAGCAAGTGACTTCTGTAAGTCTGTTTTCTGTACGTCTATTTTTTCCTCTGCAAAACAGGACTAATAAGTAAATACT... | CTAAAAATGCAAAAAAAAAAAAAAAAAAAAAAGGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGACGCAGGATAATCGCTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCAAGATCACACCACTACACTCCAGCCCGGGCAACAGAGTGAGACTTTGTCAAAAAAAAAAAAAAAAAAAATCTTTAGTTGAAGTCTAACTCTATCGCTTATCAGCCCAACGACTTTGAGCAAGTGACTTCTGTAAGTCTGTTTTCTGTACGTCTATTTTTTCCTCTGCAAAACAGGACTAATAAGTAAATACT... |
Task1_train_14046 | Consider this mutation in CDH23, LOC111982869 (cadherin related 23| Sharpr-MPRA regulatory region 2121) on Chromosome 10. Is this a benign change or a disease-causing variant? | Pathogenic; Usher syndrome type 2 | TCACACCACTACACTCCAGCCCGGGCAACAGAGTGAGACTTTGTCAAAAAAAAAAAAAAAAAAAATCTTTAGTTGAAGTCTAACTCTATCGCTTATCAGCCCAACGACTTTGAGCAAGTGACTTCTGTAAGTCTGTTTTCTGTACGTCTATTTTTTCCTCTGCAAAACAGGACTAATAAGTAAATACTCCATCTCTTGCTCCTAGATGTCTACCAAAAAGGACAGACTCCTCTACAACCCACTTCCCCCATACTTGTCTCAGAATAAACACACACGCCCCTTCCATCTGTCTGTTGTTCCTGCTGATACAGTGTGGAGAC... | TCACACCACTACACTCCAGCCCGGGCAACAGAGTGAGACTTTGTCAAAAAAAAAAAAAAAAAAAATCTTTAGTTGAAGTCTAACTCTATCGCTTATCAGCCCAACGACTTTGAGCAAGTGACTTCTGTAAGTCTGTTTTCTGTACGTCTATTTTTTCCTCTGCAAAACAGGACTAATAAGTAAATACTCCATCTCTTGCTCCTAGATGTCTACCAAAAAGGACAGACTCCTCTACAACCCACTTCCCCCATACTTGTCTCAGAATAAACACACACGCCCCTTCCATCTGTCTGTTGTTCCTGCTGATACAGTGTGGAGAC... |
Task1_train_14047 | The gene CDH23, LOC111982869 (cadherin related 23| Sharpr-MPRA regulatory region 2121), on Chromosome 10, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not specified | TCACACCACTACACTCCAGCCCGGGCAACAGAGTGAGACTTTGTCAAAAAAAAAAAAAAAAAAAATCTTTAGTTGAAGTCTAACTCTATCGCTTATCAGCCCAACGACTTTGAGCAAGTGACTTCTGTAAGTCTGTTTTCTGTACGTCTATTTTTTCCTCTGCAAAACAGGACTAATAAGTAAATACTCCATCTCTTGCTCCTAGATGTCTACCAAAAAGGACAGACTCCTCTACAACCCACTTCCCCCATACTTGTCTCAGAATAAACACACACGCCCCTTCCATCTGTCTGTTGTTCCTGCTGATACAGTGTGGAGAC... | TCACACCACTACACTCCAGCCCGGGCAACAGAGTGAGACTTTGTCAAAAAAAAAAAAAAAAAAAATCTTTAGTTGAAGTCTAACTCTATCGCTTATCAGCCCAACGACTTTGAGCAAGTGACTTCTGTAAGTCTGTTTTCTGTACGTCTATTTTTTCCTCTGCAAAACAGGACTAATAAGTAAATACTCCATCTCTTGCTCCTAGATGTCTACCAAAAAGGACAGACTCCTCTACAACCCACTTCCCCCATACTTGTCTCAGAATAAACACACACGCCCCTTCCATCTGTCTGTTGTTCCTGCTGATACAGTGTGGAGAC... |
Task1_train_14048 | Here is a mutation in CDH23 (cadherin related 23) on Chromosome 10. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Pituitary adenoma 5, multiple types | CTCATCTAGTTCCATGTGGACAAGAAGGGCCGGGTGAACTTTGCGCAGACAGAACTGCTTATCCACGTGGTGAACCGCGATACCAACCGCATCCTGGACGTGGACCGGTGAGTCGGGGCCTGTGTTTGGACTGTCAGCCTGTCTGTCTGCCTGCCTCCCTGCCCTGGAGTAGGGGAGGGGACACACCAAAGGAGACACAGACCACACCATCAGGCCCACTGTGTGGGGCCATCTCCCAGACTGGGGCAGGGCTAGGAGAGAGAGCAGAGTTTGGGGGTATGAGCAACTCTGTCCCTCTGAGCCTCCCTCTCCCCATCTGT... | CTCATCTAGTTCCATGTGGACAAGAAGGGCCGGGTGAACTTTGCGCAGACAGAACTGCTTATCCACGTGGTGAACCGCGATACCAACCGCATCCTGGACGTGGACCGGTGAGTCGGGGCCTGTGTTTGGACTGTCAGCCTGTCTGTCTGCCTGCCTCCCTGCCCTGGAGTAGGGGAGGGGACACACCAAAGGAGACACAGACCACACCATCAGGCCCACTGTGTGGGGCCATCTCCCAGACTGGGGCAGGGCTAGGAGAGAGAGCAGAGTTTGGGGGTATGAGCAACTCTGTCCCTCTGAGCCTCCCTCTCCCCATCTGT... |
Task1_train_14049 | Assess the clinical impact of this variant on gene PSAP (prosaposin), found on Chromosome 10. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Gaucher disease due to saposin C deficiency | TTGCAGATGAGTACCCACGCAGGCAGGGCTCAGGACCCTTCATCTACCTGCACCCGGCACCCAGCGTCCTGCTAGCAGCCTGCACACTAACTCCCAGGCAGAACCTCCTTGCCTGAGTTAGGCTACACACCAGCTCGGGCCTTGAGAAGCAGGCCCACATTTCCCCAGGACAGCAGCAGAACCAGCTGTGGGGTGGGGCTGGCGGTGGAGATGGGCTGGAGCCTAGCTGGAGGAAAGAGCTGGACATGGCCAGAATGGGGGCCCCCTGCCCCTCCCTGCAGTGGTCCGAAATGACACAACCGCCACTGACATGGTCACAG... | TTGCAGATGAGTACCCACGCAGGCAGGGCTCAGGACCCTTCATCTACCTGCACCCGGCACCCAGCGTCCTGCTAGCAGCCTGCACACTAACTCCCAGGCAGAACCTCCTTGCCTGAGTTAGGCTACACACCAGCTCGGGCCTTGAGAAGCAGGCCCACATTTCCCCAGGACAGCAGCAGAACCAGCTGTGGGGTGGGGCTGGCGGTGGAGATGGGCTGGAGCCTAGCTGGAGGAAAGAGCTGGACATGGCCAGAATGGGGGCCCCCTGCCCCTCCCTGCAGTGGTCCGAAATGACACAACCGCCACTGACATGGTCACAG... |
Task1_train_14050 | This alteration in PSAP (prosaposin) on Chromosome 10 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Gaucher disease due to saposin C deficiency | TGCAGATGAGTACCCACGCAGGCAGGGCTCAGGACCCTTCATCTACCTGCACCCGGCACCCAGCGTCCTGCTAGCAGCCTGCACACTAACTCCCAGGCAGAACCTCCTTGCCTGAGTTAGGCTACACACCAGCTCGGGCCTTGAGAAGCAGGCCCACATTTCCCCAGGACAGCAGCAGAACCAGCTGTGGGGTGGGGCTGGCGGTGGAGATGGGCTGGAGCCTAGCTGGAGGAAAGAGCTGGACATGGCCAGAATGGGGGCCCCCTGCCCCTCCCTGCAGTGGTCCGAAATGACACAACCGCCACTGACATGGTCACAGG... | TGCAGATGAGTACCCACGCAGGCAGGGCTCAGGACCCTTCATCTACCTGCACCCGGCACCCAGCGTCCTGCTAGCAGCCTGCACACTAACTCCCAGGCAGAACCTCCTTGCCTGAGTTAGGCTACACACCAGCTCGGGCCTTGAGAAGCAGGCCCACATTTCCCCAGGACAGCAGCAGAACCAGCTGTGGGGTGGGGCTGGCGGTGGAGATGGGCTGGAGCCTAGCTGGAGGAAAGAGCTGGACATGGCCAGAATGGGGGCCCCCTGCCCCTCCCTGCAGTGGTCCGAAATGACACAACCGCCACTGACATGGTCACAGG... |
Task1_train_14051 | The gene PSAP (prosaposin), on Chromosome 10, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Combined PSAP deficiency | GGAAGCAGCAGACCACTACTGCAAGCAGATTCCCCGACACATACCTGATCCTGCTGTTGAACAAAAAAACAGGAAATCGGAGGTGAAAATAAGAGAAAGGAAAGGACACAACAGTTAAGAAAAATTAAAACAACAATCAAGCAGTTAACCAGGTGTAAGGATGTCCCAAGAGGTTCAGGGGAAATGCTCTTGCAATCAGATCTTAGCAACCTACCTTGTTCCTGCTATCTTGCGGACAAGGGGGCCCTGAAAGCTTTCCTGGCCCTGCAGGGATAGACCATTTGGGGGCTGTCCTGCTCTGTGTGCACCATCTCCAGGTC... | GGAAGCAGCAGACCACTACTGCAAGCAGATTCCCCGACACATACCTGATCCTGCTGTTGAACAAAAAAACAGGAAATCGGAGGTGAAAATAAGAGAAAGGAAAGGACACAACAGTTAAGAAAAATTAAAACAACAATCAAGCAGTTAACCAGGTGTAAGGATGTCCCAAGAGGTTCAGGGGAAATGCTCTTGCAATCAGATCTTAGCAACCTACCTTGTTCCTGCTATCTTGCGGACAAGGGGGCCCTGAAAGCTTTCCTGGCCCTGCAGGGATAGACCATTTGGGGGCTGTCCTGCTCTGTGTGCACCATCTCCAGGTC... |
Task1_train_14052 | A mutation found in PSAP (prosaposin) on Chromosome 10 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Sphingolipid activator protein 1 deficiency | GGAAGCAGCAGACCACTACTGCAAGCAGATTCCCCGACACATACCTGATCCTGCTGTTGAACAAAAAAACAGGAAATCGGAGGTGAAAATAAGAGAAAGGAAAGGACACAACAGTTAAGAAAAATTAAAACAACAATCAAGCAGTTAACCAGGTGTAAGGATGTCCCAAGAGGTTCAGGGGAAATGCTCTTGCAATCAGATCTTAGCAACCTACCTTGTTCCTGCTATCTTGCGGACAAGGGGGCCCTGAAAGCTTTCCTGGCCCTGCAGGGATAGACCATTTGGGGGCTGTCCTGCTCTGTGTGCACCATCTCCAGGTC... | GGAAGCAGCAGACCACTACTGCAAGCAGATTCCCCGACACATACCTGATCCTGCTGTTGAACAAAAAAACAGGAAATCGGAGGTGAAAATAAGAGAAAGGAAAGGACACAACAGTTAAGAAAAATTAAAACAACAATCAAGCAGTTAACCAGGTGTAAGGATGTCCCAAGAGGTTCAGGGGAAATGCTCTTGCAATCAGATCTTAGCAACCTACCTTGTTCCTGCTATCTTGCGGACAAGGGGGCCCTGAAAGCTTTCCTGGCCCTGCAGGGATAGACCATTTGGGGGCTGTCCTGCTCTGTGTGCACCATCTCCAGGTC... |
Task1_train_14053 | Mutation context: Chromosome 10, Gene PSAP (prosaposin). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Parkinson disease 24, autosomal dominant, susceptibility to | GGAAGCAGCAGACCACTACTGCAAGCAGATTCCCCGACACATACCTGATCCTGCTGTTGAACAAAAAAACAGGAAATCGGAGGTGAAAATAAGAGAAAGGAAAGGACACAACAGTTAAGAAAAATTAAAACAACAATCAAGCAGTTAACCAGGTGTAAGGATGTCCCAAGAGGTTCAGGGGAAATGCTCTTGCAATCAGATCTTAGCAACCTACCTTGTTCCTGCTATCTTGCGGACAAGGGGGCCCTGAAAGCTTTCCTGGCCCTGCAGGGATAGACCATTTGGGGGCTGTCCTGCTCTGTGTGCACCATCTCCAGGTC... | GGAAGCAGCAGACCACTACTGCAAGCAGATTCCCCGACACATACCTGATCCTGCTGTTGAACAAAAAAACAGGAAATCGGAGGTGAAAATAAGAGAAAGGAAAGGACACAACAGTTAAGAAAAATTAAAACAACAATCAAGCAGTTAACCAGGTGTAAGGATGTCCCAAGAGGTTCAGGGGAAATGCTCTTGCAATCAGATCTTAGCAACCTACCTTGTTCCTGCTATCTTGCGGACAAGGGGGCCCTGAAAGCTTTCCTGGCCCTGCAGGGATAGACCATTTGGGGGCTGTCCTGCTCTGTGTGCACCATCTCCAGGTC... |
Task1_train_14054 | A variant was discovered in gene PSAP (prosaposin), Chromosome 10. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Sphingolipid activator protein 1 deficiency | GAAGCAGCAGACCACTACTGCAAGCAGATTCCCCGACACATACCTGATCCTGCTGTTGAACAAAAAAACAGGAAATCGGAGGTGAAAATAAGAGAAAGGAAAGGACACAACAGTTAAGAAAAATTAAAACAACAATCAAGCAGTTAACCAGGTGTAAGGATGTCCCAAGAGGTTCAGGGGAAATGCTCTTGCAATCAGATCTTAGCAACCTACCTTGTTCCTGCTATCTTGCGGACAAGGGGGCCCTGAAAGCTTTCCTGGCCCTGCAGGGATAGACCATTTGGGGGCTGTCCTGCTCTGTGTGCACCATCTCCAGGTCT... | GAAGCAGCAGACCACTACTGCAAGCAGATTCCCCGACACATACCTGATCCTGCTGTTGAACAAAAAAACAGGAAATCGGAGGTGAAAATAAGAGAAAGGAAAGGACACAACAGTTAAGAAAAATTAAAACAACAATCAAGCAGTTAACCAGGTGTAAGGATGTCCCAAGAGGTTCAGGGGAAATGCTCTTGCAATCAGATCTTAGCAACCTACCTTGTTCCTGCTATCTTGCGGACAAGGGGGCCCTGAAAGCTTTCCTGGCCCTGCAGGGATAGACCATTTGGGGGCTGTCCTGCTCTGTGTGCACCATCTCCAGGTCT... |
Task1_train_14055 | This mutation occurs in PSAP (prosaposin) on Chromosome 10. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Sphingolipid activator protein 1 deficiency | GGCCAGCTTTAATAAGATGAAAATGACAATTTGGTTACTCTATCATTTATAGGAAATGTGTGCAAAAGACGTTTTGAAAATGTTTCTTAAGGGACCTTAAAGATTCCACCCTCCTGTCTCCTTTATCTTATAACCTCACGTGCCCCAGGATCACACAGCAACTATTCAGTGGCAATTTGGAGAGAAGGCAGCTAGGAGATACACTGCTTAGGAACTGGAGCTTACCTTTCAAAGCCATTTACACAATCTCAGATGGCATTATAAAGCTTAAATCCAGTAGAGTCAAGTTATAATGATTTTTAACTGCTTATTTTCAGACA... | GGCCAGCTTTAATAAGATGAAAATGACAATTTGGTTACTCTATCATTTATAGGAAATGTGTGCAAAAGACGTTTTGAAAATGTTTCTTAAGGGACCTTAAAGATTCCACCCTCCTGTCTCCTTTATCTTATAACCTCACGTGCCCCAGGATCACACAGCAACTATTCAGTGGCAATTTGGAGAGAAGGCAGCTAGGAGATACACTGCTTAGGAACTGGAGCTTACCTTTCAAAGCCATTTACACAATCTCAGATGGCATTATAAAGCTTAAATCCAGTAGAGTCAAGTTATAATGATTTTTAACTGCTTATTTTCAGACA... |
Task1_train_14056 | Mutation context: Chromosome 10, Gene PSAP (prosaposin). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Krabbe disease due to saposin A deficiency | GGCCAGCTTTAATAAGATGAAAATGACAATTTGGTTACTCTATCATTTATAGGAAATGTGTGCAAAAGACGTTTTGAAAATGTTTCTTAAGGGACCTTAAAGATTCCACCCTCCTGTCTCCTTTATCTTATAACCTCACGTGCCCCAGGATCACACAGCAACTATTCAGTGGCAATTTGGAGAGAAGGCAGCTAGGAGATACACTGCTTAGGAACTGGAGCTTACCTTTCAAAGCCATTTACACAATCTCAGATGGCATTATAAAGCTTAAATCCAGTAGAGTCAAGTTATAATGATTTTTAACTGCTTATTTTCAGACA... | GGCCAGCTTTAATAAGATGAAAATGACAATTTGGTTACTCTATCATTTATAGGAAATGTGTGCAAAAGACGTTTTGAAAATGTTTCTTAAGGGACCTTAAAGATTCCACCCTCCTGTCTCCTTTATCTTATAACCTCACGTGCCCCAGGATCACACAGCAACTATTCAGTGGCAATTTGGAGAGAAGGCAGCTAGGAGATACACTGCTTAGGAACTGGAGCTTACCTTTCAAAGCCATTTACACAATCTCAGATGGCATTATAAAGCTTAAATCCAGTAGAGTCAAGTTATAATGATTTTTAACTGCTTATTTTCAGACA... |
Task1_train_14057 | This variant affects gene PSAP (prosaposin) located on Chromosome 10. Evaluate its biological effect and specify any disease association. | Pathogenic; Sphingolipid activator protein 1 deficiency | GGCCAGCTTTAATAAGATGAAAATGACAATTTGGTTACTCTATCATTTATAGGAAATGTGTGCAAAAGACGTTTTGAAAATGTTTCTTAAGGGACCTTAAAGATTCCACCCTCCTGTCTCCTTTATCTTATAACCTCACGTGCCCCAGGATCACACAGCAACTATTCAGTGGCAATTTGGAGAGAAGGCAGCTAGGAGATACACTGCTTAGGAACTGGAGCTTACCTTTCAAAGCCATTTACACAATCTCAGATGGCATTATAAAGCTTAAATCCAGTAGAGTCAAGTTATAATGATTTTTAACTGCTTATTTTCAGACA... | GGCCAGCTTTAATAAGATGAAAATGACAATTTGGTTACTCTATCATTTATAGGAAATGTGTGCAAAAGACGTTTTGAAAATGTTTCTTAAGGGACCTTAAAGATTCCACCCTCCTGTCTCCTTTATCTTATAACCTCACGTGCCCCAGGATCACACAGCAACTATTCAGTGGCAATTTGGAGAGAAGGCAGCTAGGAGATACACTGCTTAGGAACTGGAGCTTACCTTTCAAAGCCATTTACACAATCTCAGATGGCATTATAAAGCTTAAATCCAGTAGAGTCAAGTTATAATGATTTTTAACTGCTTATTTTCAGACA... |
Task1_train_14058 | Located on Chromosome 10, this mutation impacts PSAP (prosaposin). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Gaucher disease due to saposin C deficiency | GGCCAGCTTTAATAAGATGAAAATGACAATTTGGTTACTCTATCATTTATAGGAAATGTGTGCAAAAGACGTTTTGAAAATGTTTCTTAAGGGACCTTAAAGATTCCACCCTCCTGTCTCCTTTATCTTATAACCTCACGTGCCCCAGGATCACACAGCAACTATTCAGTGGCAATTTGGAGAGAAGGCAGCTAGGAGATACACTGCTTAGGAACTGGAGCTTACCTTTCAAAGCCATTTACACAATCTCAGATGGCATTATAAAGCTTAAATCCAGTAGAGTCAAGTTATAATGATTTTTAACTGCTTATTTTCAGACA... | GGCCAGCTTTAATAAGATGAAAATGACAATTTGGTTACTCTATCATTTATAGGAAATGTGTGCAAAAGACGTTTTGAAAATGTTTCTTAAGGGACCTTAAAGATTCCACCCTCCTGTCTCCTTTATCTTATAACCTCACGTGCCCCAGGATCACACAGCAACTATTCAGTGGCAATTTGGAGAGAAGGCAGCTAGGAGATACACTGCTTAGGAACTGGAGCTTACCTTTCAAAGCCATTTACACAATCTCAGATGGCATTATAAAGCTTAAATCCAGTAGAGTCAAGTTATAATGATTTTTAACTGCTTATTTTCAGACA... |
Task1_train_14059 | Here is a variant affecting PSAP (prosaposin) on Chromosome 10. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Parkinson disease 24, autosomal dominant, susceptibility to | GGCCAGCTTTAATAAGATGAAAATGACAATTTGGTTACTCTATCATTTATAGGAAATGTGTGCAAAAGACGTTTTGAAAATGTTTCTTAAGGGACCTTAAAGATTCCACCCTCCTGTCTCCTTTATCTTATAACCTCACGTGCCCCAGGATCACACAGCAACTATTCAGTGGCAATTTGGAGAGAAGGCAGCTAGGAGATACACTGCTTAGGAACTGGAGCTTACCTTTCAAAGCCATTTACACAATCTCAGATGGCATTATAAAGCTTAAATCCAGTAGAGTCAAGTTATAATGATTTTTAACTGCTTATTTTCAGACA... | GGCCAGCTTTAATAAGATGAAAATGACAATTTGGTTACTCTATCATTTATAGGAAATGTGTGCAAAAGACGTTTTGAAAATGTTTCTTAAGGGACCTTAAAGATTCCACCCTCCTGTCTCCTTTATCTTATAACCTCACGTGCCCCAGGATCACACAGCAACTATTCAGTGGCAATTTGGAGAGAAGGCAGCTAGGAGATACACTGCTTAGGAACTGGAGCTTACCTTTCAAAGCCATTTACACAATCTCAGATGGCATTATAAAGCTTAAATCCAGTAGAGTCAAGTTATAATGATTTTTAACTGCTTATTTTCAGACA... |
Task1_train_14060 | A variant was discovered in gene PSAP (prosaposin), Chromosome 10. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Combined PSAP deficiency | GGCCAGCTTTAATAAGATGAAAATGACAATTTGGTTACTCTATCATTTATAGGAAATGTGTGCAAAAGACGTTTTGAAAATGTTTCTTAAGGGACCTTAAAGATTCCACCCTCCTGTCTCCTTTATCTTATAACCTCACGTGCCCCAGGATCACACAGCAACTATTCAGTGGCAATTTGGAGAGAAGGCAGCTAGGAGATACACTGCTTAGGAACTGGAGCTTACCTTTCAAAGCCATTTACACAATCTCAGATGGCATTATAAAGCTTAAATCCAGTAGAGTCAAGTTATAATGATTTTTAACTGCTTATTTTCAGACA... | GGCCAGCTTTAATAAGATGAAAATGACAATTTGGTTACTCTATCATTTATAGGAAATGTGTGCAAAAGACGTTTTGAAAATGTTTCTTAAGGGACCTTAAAGATTCCACCCTCCTGTCTCCTTTATCTTATAACCTCACGTGCCCCAGGATCACACAGCAACTATTCAGTGGCAATTTGGAGAGAAGGCAGCTAGGAGATACACTGCTTAGGAACTGGAGCTTACCTTTCAAAGCCATTTACACAATCTCAGATGGCATTATAAAGCTTAAATCCAGTAGAGTCAAGTTATAATGATTTTTAACTGCTTATTTTCAGACA... |
Task1_train_14061 | The following genetic variant occurs in PSAP (prosaposin) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Parkinson disease 24, autosomal dominant, susceptibility to | GGCCAGCTTTAATAAGATGAAAATGACAATTTGGTTACTCTATCATTTATAGGAAATGTGTGCAAAAGACGTTTTGAAAATGTTTCTTAAGGGACCTTAAAGATTCCACCCTCCTGTCTCCTTTATCTTATAACCTCACGTGCCCCAGGATCACACAGCAACTATTCAGTGGCAATTTGGAGAGAAGGCAGCTAGGAGATACACTGCTTAGGAACTGGAGCTTACCTTTCAAAGCCATTTACACAATCTCAGATGGCATTATAAAGCTTAAATCCAGTAGAGTCAAGTTATAATGATTTTTAACTGCTTATTTTCAGACA... | GGCCAGCTTTAATAAGATGAAAATGACAATTTGGTTACTCTATCATTTATAGGAAATGTGTGCAAAAGACGTTTTGAAAATGTTTCTTAAGGGACCTTAAAGATTCCACCCTCCTGTCTCCTTTATCTTATAACCTCACGTGCCCCAGGATCACACAGCAACTATTCAGTGGCAATTTGGAGAGAAGGCAGCTAGGAGATACACTGCTTAGGAACTGGAGCTTACCTTTCAAAGCCATTTACACAATCTCAGATGGCATTATAAAGCTTAAATCCAGTAGAGTCAAGTTATAATGATTTTTAACTGCTTATTTTCAGACA... |
Task1_train_14062 | Gene PSAP (prosaposin) on Chromosome 10 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Krabbe disease due to saposin A deficiency | AAATACAAAAATTAGCCGGGCATGATGGTGGGTGCCTGTGATCCCAGCTACTTGGGAGGCTGAGATGGGAGAATCACTTGAACCCGGAAGGCAGAGGTGCTGTCAGTCAAGATCGCGCCATTGCACTCCAGGCTGGGCGACAGAGTGAGACTCAGTCTCAAAAAAATAAATAAATAAATAAATAAAGGAATAGGAGCTTCTTGCTGGAGGAGAAGAGTCAGCAATTCTAAGTCACTTCCCCACAAAATGAGCTAACACGATGGCTTTCAACACCTTCCATATGCTGATGGCTCCCAAGTGTTTAACTTCTGTAATCATGC... | AAATACAAAAATTAGCCGGGCATGATGGTGGGTGCCTGTGATCCCAGCTACTTGGGAGGCTGAGATGGGAGAATCACTTGAACCCGGAAGGCAGAGGTGCTGTCAGTCAAGATCGCGCCATTGCACTCCAGGCTGGGCGACAGAGTGAGACTCAGTCTCAAAAAAATAAATAAATAAATAAATAAAGGAATAGGAGCTTCTTGCTGGAGGAGAAGAGTCAGCAATTCTAAGTCACTTCCCCACAAAATGAGCTAACACGATGGCTTTCAACACCTTCCATATGCTGATGGCTCCCAAGTGTTTAACTTCTGTAATCATGC... |
Task1_train_14063 | This alteration occurs within gene PSAP (prosaposin) located on Chromosome 10. Is it associated with a disease or is it a benign variant? | Pathogenic; Sphingolipid activator protein 1 deficiency | CAGACCATGGAATAACTGCAGTATAAGCTTGAGTATAAAATCAAAATGATTTTTTTATAAGCAGATCATCTTTCATTGTGTACAAGTAAAACAAATTTAAGAGCTTCGTATAGGGTCAAGATACATTCTTGAGAGCTGCTGAAAGCTAACTCATTTCTTCGGTTTTGCATCAACCCTGTCATCCACTTTGTTACTTTTTATTAAAATTTGGGTAGCTAGGTTAAAAATGGCAGCCAGCCCTTAAACTACATATAGTTACTAAAAAACAGACATTGTGGTGGGGGCTGGGTGCGGTGTCTCACGCCTGTAATCCCAGAACT... | CAGACCATGGAATAACTGCAGTATAAGCTTGAGTATAAAATCAAAATGATTTTTTTATAAGCAGATCATCTTTCATTGTGTACAAGTAAAACAAATTTAAGAGCTTCGTATAGGGTCAAGATACATTCTTGAGAGCTGCTGAAAGCTAACTCATTTCTTCGGTTTTGCATCAACCCTGTCATCCACTTTGTTACTTTTTATTAAAATTTGGGTAGCTAGGTTAAAAATGGCAGCCAGCCCTTAAACTACATATAGTTACTAAAAAACAGACATTGTGGTGGGGGCTGGGTGCGGTGTCTCACGCCTGTAATCCCAGAACT... |
Task1_train_14064 | A sequence alteration has been identified in PSAP (prosaposin) on Chromosome 10. Is it disease-inducing or harmless? | Pathogenic; Gaucher disease due to saposin C deficiency | AGACCATGGAATAACTGCAGTATAAGCTTGAGTATAAAATCAAAATGATTTTTTTATAAGCAGATCATCTTTCATTGTGTACAAGTAAAACAAATTTAAGAGCTTCGTATAGGGTCAAGATACATTCTTGAGAGCTGCTGAAAGCTAACTCATTTCTTCGGTTTTGCATCAACCCTGTCATCCACTTTGTTACTTTTTATTAAAATTTGGGTAGCTAGGTTAAAAATGGCAGCCAGCCCTTAAACTACATATAGTTACTAAAAAACAGACATTGTGGTGGGGGCTGGGTGCGGTGTCTCACGCCTGTAATCCCAGAACTT... | AGACCATGGAATAACTGCAGTATAAGCTTGAGTATAAAATCAAAATGATTTTTTTATAAGCAGATCATCTTTCATTGTGTACAAGTAAAACAAATTTAAGAGCTTCGTATAGGGTCAAGATACATTCTTGAGAGCTGCTGAAAGCTAACTCATTTCTTCGGTTTTGCATCAACCCTGTCATCCACTTTGTTACTTTTTATTAAAATTTGGGTAGCTAGGTTAAAAATGGCAGCCAGCCCTTAAACTACATATAGTTACTAAAAAACAGACATTGTGGTGGGGGCTGGGTGCGGTGTCTCACGCCTGTAATCCCAGAACTT... |
Task1_train_14065 | This gene mutation involves PSAP (prosaposin) on Chromosome 10. Is it associated with any clinical condition, or is it benign? | Pathogenic; Sphingolipid activator protein 1 deficiency | AGACCATGGAATAACTGCAGTATAAGCTTGAGTATAAAATCAAAATGATTTTTTTATAAGCAGATCATCTTTCATTGTGTACAAGTAAAACAAATTTAAGAGCTTCGTATAGGGTCAAGATACATTCTTGAGAGCTGCTGAAAGCTAACTCATTTCTTCGGTTTTGCATCAACCCTGTCATCCACTTTGTTACTTTTTATTAAAATTTGGGTAGCTAGGTTAAAAATGGCAGCCAGCCCTTAAACTACATATAGTTACTAAAAAACAGACATTGTGGTGGGGGCTGGGTGCGGTGTCTCACGCCTGTAATCCCAGAACTT... | AGACCATGGAATAACTGCAGTATAAGCTTGAGTATAAAATCAAAATGATTTTTTTATAAGCAGATCATCTTTCATTGTGTACAAGTAAAACAAATTTAAGAGCTTCGTATAGGGTCAAGATACATTCTTGAGAGCTGCTGAAAGCTAACTCATTTCTTCGGTTTTGCATCAACCCTGTCATCCACTTTGTTACTTTTTATTAAAATTTGGGTAGCTAGGTTAAAAATGGCAGCCAGCCCTTAAACTACATATAGTTACTAAAAAACAGACATTGTGGTGGGGGCTGGGTGCGGTGTCTCACGCCTGTAATCCCAGAACTT... |
Task1_train_14066 | The gene PSAP (prosaposin) on Chromosome 10 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Sphingolipid activator protein 1 deficiency | AGACCATGGAATAACTGCAGTATAAGCTTGAGTATAAAATCAAAATGATTTTTTTATAAGCAGATCATCTTTCATTGTGTACAAGTAAAACAAATTTAAGAGCTTCGTATAGGGTCAAGATACATTCTTGAGAGCTGCTGAAAGCTAACTCATTTCTTCGGTTTTGCATCAACCCTGTCATCCACTTTGTTACTTTTTATTAAAATTTGGGTAGCTAGGTTAAAAATGGCAGCCAGCCCTTAAACTACATATAGTTACTAAAAAACAGACATTGTGGTGGGGGCTGGGTGCGGTGTCTCACGCCTGTAATCCCAGAACTT... | AGACCATGGAATAACTGCAGTATAAGCTTGAGTATAAAATCAAAATGATTTTTTTATAAGCAGATCATCTTTCATTGTGTACAAGTAAAACAAATTTAAGAGCTTCGTATAGGGTCAAGATACATTCTTGAGAGCTGCTGAAAGCTAACTCATTTCTTCGGTTTTGCATCAACCCTGTCATCCACTTTGTTACTTTTTATTAAAATTTGGGTAGCTAGGTTAAAAATGGCAGCCAGCCCTTAAACTACATATAGTTACTAAAAAACAGACATTGTGGTGGGGGCTGGGTGCGGTGTCTCACGCCTGTAATCCCAGAACTT... |
Task1_train_14067 | Here’s a variant in PSAP (prosaposin) located on Chromosome 10. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Metachromatic leukodystrophy | AGACCATGGAATAACTGCAGTATAAGCTTGAGTATAAAATCAAAATGATTTTTTTATAAGCAGATCATCTTTCATTGTGTACAAGTAAAACAAATTTAAGAGCTTCGTATAGGGTCAAGATACATTCTTGAGAGCTGCTGAAAGCTAACTCATTTCTTCGGTTTTGCATCAACCCTGTCATCCACTTTGTTACTTTTTATTAAAATTTGGGTAGCTAGGTTAAAAATGGCAGCCAGCCCTTAAACTACATATAGTTACTAAAAAACAGACATTGTGGTGGGGGCTGGGTGCGGTGTCTCACGCCTGTAATCCCAGAACTT... | AGACCATGGAATAACTGCAGTATAAGCTTGAGTATAAAATCAAAATGATTTTTTTATAAGCAGATCATCTTTCATTGTGTACAAGTAAAACAAATTTAAGAGCTTCGTATAGGGTCAAGATACATTCTTGAGAGCTGCTGAAAGCTAACTCATTTCTTCGGTTTTGCATCAACCCTGTCATCCACTTTGTTACTTTTTATTAAAATTTGGGTAGCTAGGTTAAAAATGGCAGCCAGCCCTTAAACTACATATAGTTACTAAAAAACAGACATTGTGGTGGGGGCTGGGTGCGGTGTCTCACGCCTGTAATCCCAGAACTT... |
Task1_train_14068 | This gene mutation involves PSAP (prosaposin) on Chromosome 10. Is it associated with any clinical condition, or is it benign? | Pathogenic; Parkinson disease 24, autosomal dominant, susceptibility to | AGACCATGGAATAACTGCAGTATAAGCTTGAGTATAAAATCAAAATGATTTTTTTATAAGCAGATCATCTTTCATTGTGTACAAGTAAAACAAATTTAAGAGCTTCGTATAGGGTCAAGATACATTCTTGAGAGCTGCTGAAAGCTAACTCATTTCTTCGGTTTTGCATCAACCCTGTCATCCACTTTGTTACTTTTTATTAAAATTTGGGTAGCTAGGTTAAAAATGGCAGCCAGCCCTTAAACTACATATAGTTACTAAAAAACAGACATTGTGGTGGGGGCTGGGTGCGGTGTCTCACGCCTGTAATCCCAGAACTT... | AGACCATGGAATAACTGCAGTATAAGCTTGAGTATAAAATCAAAATGATTTTTTTATAAGCAGATCATCTTTCATTGTGTACAAGTAAAACAAATTTAAGAGCTTCGTATAGGGTCAAGATACATTCTTGAGAGCTGCTGAAAGCTAACTCATTTCTTCGGTTTTGCATCAACCCTGTCATCCACTTTGTTACTTTTTATTAAAATTTGGGTAGCTAGGTTAAAAATGGCAGCCAGCCCTTAAACTACATATAGTTACTAAAAAACAGACATTGTGGTGGGGGCTGGGTGCGGTGTCTCACGCCTGTAATCCCAGAACTT... |
Task1_train_14069 | Gene CHST3 (carbohydrate sulfotransferase 3) on Chromosome 10 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Spondyloepiphyseal dysplasia with congenital joint dislocations | CAAAGGTTATTCTTTTCCGTGCACAGGCCTTTGATGTGTGAGGTCAAGGGAGAAACTGATGGAGGTGGGATGGATGAACCCGATGGTTCATTAGCATTTTAAATGACCTATTAAAGAGACCTTCAGTGTCTCTGGGGCACAGTCTGTCTGGAGAGTGGGTCTGGGGTCCTGGCTGCTAACCAGGGCCGAGATCCTCAAAAGTCTGGTGGAGAGACATCCTCTGCATTCCTCGTGTACAGACAAGGGTGTTCTGACCACCTGTCTCTCCGCAGGACAAGGGTGTCCCCCACCTGAAGACGGCAAGCTGGGTCCTGAGTGAT... | CAAAGGTTATTCTTTTCCGTGCACAGGCCTTTGATGTGTGAGGTCAAGGGAGAAACTGATGGAGGTGGGATGGATGAACCCGATGGTTCATTAGCATTTTAAATGACCTATTAAAGAGACCTTCAGTGTCTCTGGGGCACAGTCTGTCTGGAGAGTGGGTCTGGGGTCCTGGCTGCTAACCAGGGCCGAGATCCTCAAAAGTCTGGTGGAGAGACATCCTCTGCATTCCTCGTGTACAGACAAGGGTGTTCTGACCACCTGTCTCTCCGCAGGACAAGGGTGTCCCCCACCTGAAGACGGCAAGCTGGGTCCTGAGTGAT... |
Task1_train_14070 | With a mutation on Chromosome 10 in gene CHST3 (carbohydrate sulfotransferase 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Spondyloepiphyseal dysplasia with congenital joint dislocations | TCTTTTCCGTGCACAGGCCTTTGATGTGTGAGGTCAAGGGAGAAACTGATGGAGGTGGGATGGATGAACCCGATGGTTCATTAGCATTTTAAATGACCTATTAAAGAGACCTTCAGTGTCTCTGGGGCACAGTCTGTCTGGAGAGTGGGTCTGGGGTCCTGGCTGCTAACCAGGGCCGAGATCCTCAAAAGTCTGGTGGAGAGACATCCTCTGCATTCCTCGTGTACAGACAAGGGTGTTCTGACCACCTGTCTCTCCGCAGGACAAGGGTGTCCCCCACCTGAAGACGGCAAGCTGGGTCCTGAGTGATGCCCCTCAGC... | TCTTTTCCGTGCACAGGCCTTTGATGTGTGAGGTCAAGGGAGAAACTGATGGAGGTGGGATGGATGAACCCGATGGTTCATTAGCATTTTAAATGACCTATTAAAGAGACCTTCAGTGTCTCTGGGGCACAGTCTGTCTGGAGAGTGGGTCTGGGGTCCTGGCTGCTAACCAGGGCCGAGATCCTCAAAAGTCTGGTGGAGAGACATCCTCTGCATTCCTCGTGTACAGACAAGGGTGTTCTGACCACCTGTCTCTCCGCAGGACAAGGGTGTCCCCCACCTGAAGACGGCAAGCTGGGTCCTGAGTGATGCCCCTCAGC... |
Task1_train_14071 | Assess the clinical impact of this variant on gene CHST3 (carbohydrate sulfotransferase 3), found on Chromosome 10. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Spondyloepiphyseal dysplasia with congenital joint dislocations | ACAGGCCTTTGATGTGTGAGGTCAAGGGAGAAACTGATGGAGGTGGGATGGATGAACCCGATGGTTCATTAGCATTTTAAATGACCTATTAAAGAGACCTTCAGTGTCTCTGGGGCACAGTCTGTCTGGAGAGTGGGTCTGGGGTCCTGGCTGCTAACCAGGGCCGAGATCCTCAAAAGTCTGGTGGAGAGACATCCTCTGCATTCCTCGTGTACAGACAAGGGTGTTCTGACCACCTGTCTCTCCGCAGGACAAGGGTGTCCCCCACCTGAAGACGGCAAGCTGGGTCCTGAGTGATGCCCCTCAGCTGAGTGTCCAAG... | ACAGGCCTTTGATGTGTGAGGTCAAGGGAGAAACTGATGGAGGTGGGATGGATGAACCCGATGGTTCATTAGCATTTTAAATGACCTATTAAAGAGACCTTCAGTGTCTCTGGGGCACAGTCTGTCTGGAGAGTGGGTCTGGGGTCCTGGCTGCTAACCAGGGCCGAGATCCTCAAAAGTCTGGTGGAGAGACATCCTCTGCATTCCTCGTGTACAGACAAGGGTGTTCTGACCACCTGTCTCTCCGCAGGACAAGGGTGTCCCCCACCTGAAGACGGCAAGCTGGGTCCTGAGTGATGCCCCTCAGCTGAGTGTCCAAG... |
Task1_train_14072 | This variant lies on Chromosome 10 and affects the gene CHST3 (carbohydrate sulfotransferase 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Spondyloepiphyseal dysplasia with congenital joint dislocations | GGCCGAGATCCTCAAAAGTCTGGTGGAGAGACATCCTCTGCATTCCTCGTGTACAGACAAGGGTGTTCTGACCACCTGTCTCTCCGCAGGACAAGGGTGTCCCCCACCTGAAGACGGCAAGCTGGGTCCTGAGTGATGCCCCTCAGCTGAGTGTCCAAGGCTGGCCCGAGGAGCCCCCACGGCCCCACCTTTCCCCATGGAGAAAGGACTCACTTTGCCCCAGGACTGCCGGGACTTTGTGCACAGCCTGAAGATGAGAAGCAAATACGCCCTTTTCTTGGTTTTTGTGGTGATAGTTTTTGTCTTCATCGAAAAGGAAA... | GGCCGAGATCCTCAAAAGTCTGGTGGAGAGACATCCTCTGCATTCCTCGTGTACAGACAAGGGTGTTCTGACCACCTGTCTCTCCGCAGGACAAGGGTGTCCCCCACCTGAAGACGGCAAGCTGGGTCCTGAGTGATGCCCCTCAGCTGAGTGTCCAAGGCTGGCCCGAGGAGCCCCCACGGCCCCACCTTTCCCCATGGAGAAAGGACTCACTTTGCCCCAGGACTGCCGGGACTTTGTGCACAGCCTGAAGATGAGAAGCAAATACGCCCTTTTCTTGGTTTTTGTGGTGATAGTTTTTGTCTTCATCGAAAAGGAAA... |
Task1_train_14073 | A variant has been detected on Chromosome 10 in CHST3 (carbohydrate sulfotransferase 3). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Spondyloepiphyseal dysplasia with congenital joint dislocations | GACGGCAAGCTGGGTCCTGAGTGATGCCCCTCAGCTGAGTGTCCAAGGCTGGCCCGAGGAGCCCCCACGGCCCCACCTTTCCCCATGGAGAAAGGACTCACTTTGCCCCAGGACTGCCGGGACTTTGTGCACAGCCTGAAGATGAGAAGCAAATACGCCCTTTTCTTGGTTTTTGTGGTGATAGTTTTTGTCTTCATCGAAAAGGAAAATAAAATCATATCAAGGTGAGGGTTGCAAGCCCAAGTCTTCATCTTCCTTTCAAGGTGGGGTGGGTGGGGACAGGGAGGTAACTGCAGGGCTCTCTGTGGACCTGCAAATGC... | GACGGCAAGCTGGGTCCTGAGTGATGCCCCTCAGCTGAGTGTCCAAGGCTGGCCCGAGGAGCCCCCACGGCCCCACCTTTCCCCATGGAGAAAGGACTCACTTTGCCCCAGGACTGCCGGGACTTTGTGCACAGCCTGAAGATGAGAAGCAAATACGCCCTTTTCTTGGTTTTTGTGGTGATAGTTTTTGTCTTCATCGAAAAGGAAAATAAAATCATATCAAGGTGAGGGTTGCAAGCCCAAGTCTTCATCTTCCTTTCAAGGTGGGGTGGGTGGGGACAGGGAGGTAACTGCAGGGCTCTCTGTGGACCTGCAAATGC... |
Task1_train_14074 | This variant affects the gene CHST3 (carbohydrate sulfotransferase 3) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Spondyloepiphyseal dysplasia with congenital joint dislocations | CCCATGGAGAAAGGACTCACTTTGCCCCAGGACTGCCGGGACTTTGTGCACAGCCTGAAGATGAGAAGCAAATACGCCCTTTTCTTGGTTTTTGTGGTGATAGTTTTTGTCTTCATCGAAAAGGAAAATAAAATCATATCAAGGTGAGGGTTGCAAGCCCAAGTCTTCATCTTCCTTTCAAGGTGGGGTGGGTGGGGACAGGGAGGTAACTGCAGGGCTCTCTGTGGACCTGCAAATGCATTCCTTCAACGAGCCATCCCCAGGCCCCTTCTATGTCCCAGGCAGTGGCTCCTGCACACGTCCTCATGACTGCACAGGGG... | CCCATGGAGAAAGGACTCACTTTGCCCCAGGACTGCCGGGACTTTGTGCACAGCCTGAAGATGAGAAGCAAATACGCCCTTTTCTTGGTTTTTGTGGTGATAGTTTTTGTCTTCATCGAAAAGGAAAATAAAATCATATCAAGGTGAGGGTTGCAAGCCCAAGTCTTCATCTTCCTTTCAAGGTGGGGTGGGTGGGGACAGGGAGGTAACTGCAGGGCTCTCTGTGGACCTGCAAATGCATTCCTTCAACGAGCCATCCCCAGGCCCCTTCTATGTCCCAGGCAGTGGCTCCTGCACACGTCCTCATGACTGCACAGGGG... |
Task1_train_14075 | A mutation found in CHST3 (carbohydrate sulfotransferase 3) on Chromosome 10 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Spondyloepiphyseal dysplasia with congenital joint dislocations | GCACAGCCTGAAGATGAGAAGCAAATACGCCCTTTTCTTGGTTTTTGTGGTGATAGTTTTTGTCTTCATCGAAAAGGAAAATAAAATCATATCAAGGTGAGGGTTGCAAGCCCAAGTCTTCATCTTCCTTTCAAGGTGGGGTGGGTGGGGACAGGGAGGTAACTGCAGGGCTCTCTGTGGACCTGCAAATGCATTCCTTCAACGAGCCATCCCCAGGCCCCTTCTATGTCCCAGGCAGTGGCTCCTGCACACGTCCTCATGACTGCACAGGGGTGAGACTTGGGCTCTGGACTCAAACAGCCTGGGTTGGAGCCCCCCCA... | GCACAGCCTGAAGATGAGAAGCAAATACGCCCTTTTCTTGGTTTTTGTGGTGATAGTTTTTGTCTTCATCGAAAAGGAAAATAAAATCATATCAAGGTGAGGGTTGCAAGCCCAAGTCTTCATCTTCCTTTCAAGGTGGGGTGGGTGGGGACAGGGAGGTAACTGCAGGGCTCTCTGTGGACCTGCAAATGCATTCCTTCAACGAGCCATCCCCAGGCCCCTTCTATGTCCCAGGCAGTGGCTCCTGCACACGTCCTCATGACTGCACAGGGGTGAGACTTGGGCTCTGGACTCAAACAGCCTGGGTTGGAGCCCCCCCA... |
Task1_train_14076 | This genomic variant is located on Chromosome 10, within the CHST3 (carbohydrate sulfotransferase 3) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Spondyloepiphyseal dysplasia with congenital joint dislocations | AGAAGCAAATACGCCCTTTTCTTGGTTTTTGTGGTGATAGTTTTTGTCTTCATCGAAAAGGAAAATAAAATCATATCAAGGTGAGGGTTGCAAGCCCAAGTCTTCATCTTCCTTTCAAGGTGGGGTGGGTGGGGACAGGGAGGTAACTGCAGGGCTCTCTGTGGACCTGCAAATGCATTCCTTCAACGAGCCATCCCCAGGCCCCTTCTATGTCCCAGGCAGTGGCTCCTGCACACGTCCTCATGACTGCACAGGGGTGAGACTTGGGCTCTGGACTCAAACAGCCTGGGTTGGAGCCCCCCCATGTTGGCCCTCTACAG... | AGAAGCAAATACGCCCTTTTCTTGGTTTTTGTGGTGATAGTTTTTGTCTTCATCGAAAAGGAAAATAAAATCATATCAAGGTGAGGGTTGCAAGCCCAAGTCTTCATCTTCCTTTCAAGGTGGGGTGGGTGGGGACAGGGAGGTAACTGCAGGGCTCTCTGTGGACCTGCAAATGCATTCCTTCAACGAGCCATCCCCAGGCCCCTTCTATGTCCCAGGCAGTGGCTCCTGCACACGTCCTCATGACTGCACAGGGGTGAGACTTGGGCTCTGGACTCAAACAGCCTGGGTTGGAGCCCCCCCATGTTGGCCCTCTACAG... |
Task1_train_14077 | Gene CHST3 (carbohydrate sulfotransferase 3) on Chromosome 10 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Spondyloepiphyseal dysplasia with congenital joint dislocations | TAACTGCAGGGCTCTCTGTGGACCTGCAAATGCATTCCTTCAACGAGCCATCCCCAGGCCCCTTCTATGTCCCAGGCAGTGGCTCCTGCACACGTCCTCATGACTGCACAGGGGTGAGACTTGGGCTCTGGACTCAAACAGCCTGGGTTGGAGCCCCCCCATGTTGGCCCTCTACAGCTGTGAAAGGTTAGACAAGATACTTAACATTTCTGAGTCTTCGGTTCCTCTTTTGTAAAACATGGCTAATAATGGGACCAGCATTGTTGTAAAGATTAAATGAGAAAATGTAAAAGCATTTAGCCCACTGCCTGGCACATAGT... | TAACTGCAGGGCTCTCTGTGGACCTGCAAATGCATTCCTTCAACGAGCCATCCCCAGGCCCCTTCTATGTCCCAGGCAGTGGCTCCTGCACACGTCCTCATGACTGCACAGGGGTGAGACTTGGGCTCTGGACTCAAACAGCCTGGGTTGGAGCCCCCCCATGTTGGCCCTCTACAGCTGTGAAAGGTTAGACAAGATACTTAACATTTCTGAGTCTTCGGTTCCTCTTTTGTAAAACATGGCTAATAATGGGACCAGCATTGTTGTAAAGATTAAATGAGAAAATGTAAAAGCATTTAGCCCACTGCCTGGCACATAGT... |
Task1_train_14078 | Assess the clinical impact of this variant on gene CHST3 (carbohydrate sulfotransferase 3), found on Chromosome 10. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Spondyloepiphyseal dysplasia with congenital joint dislocations | CCCCAGGCCCCTTCTATGTCCCAGGCAGTGGCTCCTGCACACGTCCTCATGACTGCACAGGGGTGAGACTTGGGCTCTGGACTCAAACAGCCTGGGTTGGAGCCCCCCCATGTTGGCCCTCTACAGCTGTGAAAGGTTAGACAAGATACTTAACATTTCTGAGTCTTCGGTTCCTCTTTTGTAAAACATGGCTAATAATGGGACCAGCATTGTTGTAAAGATTAAATGAGAAAATGTAAAAGCATTTAGCCCACTGCCTGGCACATAGTTGGTGTCCAGTATTTGCTGGCTGTGACTATTACTGTTAATTTACCTCCTGG... | CCCCAGGCCCCTTCTATGTCCCAGGCAGTGGCTCCTGCACACGTCCTCATGACTGCACAGGGGTGAGACTTGGGCTCTGGACTCAAACAGCCTGGGTTGGAGCCCCCCCATGTTGGCCCTCTACAGCTGTGAAAGGTTAGACAAGATACTTAACATTTCTGAGTCTTCGGTTCCTCTTTTGTAAAACATGGCTAATAATGGGACCAGCATTGTTGTAAAGATTAAATGAGAAAATGTAAAAGCATTTAGCCCACTGCCTGGCACATAGTTGGTGTCCAGTATTTGCTGGCTGTGACTATTACTGTTAATTTACCTCCTGG... |
Task1_train_14079 | Here’s a variant in ADK (adenosine kinase) located on Chromosome 10. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Adenosine kinase deficiency | AGTTCTTTCTTTTATTTGGATTGGAACCATACTGTGATCTCTTATGGAAAACAGACTTCCTCCAAGTCTGTTAAATATAATTTAAAATTATATCGTTTCTTGTTGATTTGTTTGTTTTTGTTTTGCTTTATTTCATGTTATAGGCATCTGAAATGAATCCTTATATATATAACATACAAGTATATGTATGAGAAGACATGAATATAAGAAGTATAGGAAACATAAGACATGAATAAAAGTTTTAGCTAGACATTTTTAGATGAAAAGATGTGCATTTAAATTTGTAAAAGTTACAAATCGTTCTATAAAAAGTTAGCATA... | AGTTCTTTCTTTTATTTGGATTGGAACCATACTGTGATCTCTTATGGAAAACAGACTTCCTCCAAGTCTGTTAAATATAATTTAAAATTATATCGTTTCTTGTTGATTTGTTTGTTTTTGTTTTGCTTTATTTCATGTTATAGGCATCTGAAATGAATCCTTATATATATAACATACAAGTATATGTATGAGAAGACATGAATATAAGAAGTATAGGAAACATAAGACATGAATAAAAGTTTTAGCTAGACATTTTTAGATGAAAAGATGTGCATTTAAATTTGTAAAAGTTACAAATCGTTCTATAAAAAGTTAGCATA... |
Task1_train_14080 | A variant on Chromosome 10 in gene ADK, LOC102723439 (adenosine kinase| uncharacterized LOC102723439) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Adenosine kinase deficiency | CTTATGACTTTTACTCATTCCTTTCTTTCTCTACTTCCCCATAGCACCTTCTTAAAATTTCCCTTGCTTAGTTTCTCCACCATCACTTCTCCTCTCCTCATTTGGCCTCCTCTTGTTTTCTCCTTTTCCTTTTTTATTTCCTCTAATTTTTGTTCTCCATTTTTTCCTTCGTCGTCTTTTGTTCTGTGTTCTCTGCCTTGGGAATTACACCACCTCTTTGACCTCACCTCTTTCATGACCTTTCCTCTAAGTCCAACTTTCTGGTAGATACTTAGAGATCCCTTAGAACCTCAACTGTAGTATGACCACAACTAAACACT... | CTTATGACTTTTACTCATTCCTTTCTTTCTCTACTTCCCCATAGCACCTTCTTAAAATTTCCCTTGCTTAGTTTCTCCACCATCACTTCTCCTCTCCTCATTTGGCCTCCTCTTGTTTTCTCCTTTTCCTTTTTTATTTCCTCTAATTTTTGTTCTCCATTTTTTCCTTCGTCGTCTTTTGTTCTGTGTTCTCTGCCTTGGGAATTACACCACCTCTTTGACCTCACCTCTTTCATGACCTTTCCTCTAAGTCCAACTTTCTGGTAGATACTTAGAGATCCCTTAGAACCTCAACTGTAGTATGACCACAACTAAACACT... |
Task1_train_14081 | A mutation in ADK (adenosine kinase), located on Chromosome 10, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Adenosine kinase deficiency | ATTTCTTTATAAGTATTTATGGTACAGACCTTTTCCTAAATCAGACTGCAGACCTTTCCTGAGTATTTCTAATAAAGTCTGCTTACATTTTTTTTTTGGCCTGCATAGTAGTTTGTGCTATATATACTCTCTAGAAAATGTAATTCTGGATATTTGTGCCATAACTTTCAATTAATCAAAATCTTGTCAACTGCCATATAGGCCCTCATGTTACAAAATGTGGAAAGTTCAGTTACTTAAAGAGTTTGGCTGGGCATTGTGGCTCACACCTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCAGATCACTTGAGGTCAGG... | ATTTCTTTATAAGTATTTATGGTACAGACCTTTTCCTAAATCAGACTGCAGACCTTTCCTGAGTATTTCTAATAAAGTCTGCTTACATTTTTTTTTTGGCCTGCATAGTAGTTTGTGCTATATATACTCTCTAGAAAATGTAATTCTGGATATTTGTGCCATAACTTTCAATTAATCAAAATCTTGTCAACTGCCATATAGGCCCTCATGTTACAAAATGTGGAAAGTTCAGTTACTTAAAGAGTTTGGCTGGGCATTGTGGCTCACACCTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCAGATCACTTGAGGTCAGG... |
Task1_train_14082 | Given this variant in gene KCNMA1, KCNMA1-AS1 (potassium calcium-activated channel subfamily M alpha 1| KCNMA1 antisense RNA 1) on Chromosome 10, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Generalized epilepsy-paroxysmal dyskinesia syndrome | TGTTTTGGTGTCTCCCAAGTTGGAGGGTCCATGTGCCAAGGGACGGCAGTGGAAGAAGTCAACATGTTTAACAGACTACACCCAATATGTGTGATTTTTAGGGATCAGGTAACAATGGGGTTTTCCTCTGGTGTCTCTCCAGTTTTCCACCTGTCGCAGTGGGGTTTGAAAGCTCTAAGGAGATTATGCTTCTCCCTCACTTTAAGTCAAAGTGTAAAGCTTGATGGTCTCAGATGTATGCTCAGCTGAGGAGATGAACCCTTCTCTGCAAAATGGTGATTATGTTCAGTCCCAGCTCAGCTGTAACCGCTGTGATAGGC... | TGTTTTGGTGTCTCCCAAGTTGGAGGGTCCATGTGCCAAGGGACGGCAGTGGAAGAAGTCAACATGTTTAACAGACTACACCCAATATGTGTGATTTTTAGGGATCAGGTAACAATGGGGTTTTCCTCTGGTGTCTCTCCAGTTTTCCACCTGTCGCAGTGGGGTTTGAAAGCTCTAAGGAGATTATGCTTCTCCCTCACTTTAAGTCAAAGTGTAAAGCTTGATGGTCTCAGATGTATGCTCAGCTGAGGAGATGAACCCTTCTCTGCAAAATGGTGATTATGTTCAGTCCCAGCTCAGCTGTAACCGCTGTGATAGGC... |
Task1_train_14083 | A variant on Chromosome 10 in gene KCNMA1, KCNMA1-AS1 (potassium calcium-activated channel subfamily M alpha 1| KCNMA1 antisense RNA 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Generalized epilepsy-paroxysmal dyskinesia syndrome | GTACTTAAAGGGAGAATCATTGCTTTCACTGTTTTCCTTTCCCCTTGATGGTTCACTCCTCCCCAGGAGAGGAGGAGCATCTACCAAGGGTTGGTCACATCCTGTTCATGTGAAGGTTTACTGTGCTTTAAAAGGGCACATTTGAGTTGCCTGGGGATCTTGTTGGAATGCAGATTCTGACCCAGCAGGTCTGGGATGGCCCATGAGGTTCTGTAACTCTAACAGCCTCCCCCAACAGACACCCATACTGGGGCAGGGCAGAGAGGACACATATTGAAAGTCAAGGGCTTAAAGGCAGGAACCAAATGCCGGCTTGCCTC... | GTACTTAAAGGGAGAATCATTGCTTTCACTGTTTTCCTTTCCCCTTGATGGTTCACTCCTCCCCAGGAGAGGAGGAGCATCTACCAAGGGTTGGTCACATCCTGTTCATGTGAAGGTTTACTGTGCTTTAAAAGGGCACATTTGAGTTGCCTGGGGATCTTGTTGGAATGCAGATTCTGACCCAGCAGGTCTGGGATGGCCCATGAGGTTCTGTAACTCTAACAGCCTCCCCCAACAGACACCCATACTGGGGCAGGGCAGAGAGGACACATATTGAAAGTCAAGGGCTTAAAGGCAGGAACCAAATGCCGGCTTGCCTC... |
Task1_train_14084 | This mutation is located in gene KCNMA1 (potassium calcium-activated channel subfamily M alpha 1) on Chromosome 10. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | GGATACAAAGGTGAATCCTAGCAATGGAAGCATGAGCAGCCAGTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTTTGGAGACAGGGACTGGAGTGCAGTGGTGCCATCTTGACTCACTGCAACCTCTGCCTCTCAGGATCAAGTCATCCTCCCACCACAGCCTCCAGAGTAGCGAGGGCTACAGGCACGTGCCCCTATGCCTGGCTAATCTTTCTATTTTTGTATAGATGGGGTCTCACTGTGTTGCCCAAGCTGGTCTTGAACTCCTGAGCTCAAGTGATCTTCCCACCTTGGCCTCCCAAAGTGCTGGGATTAC... | GGATACAAAGGTGAATCCTAGCAATGGAAGCATGAGCAGCCAGTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTTTGGAGACAGGGACTGGAGTGCAGTGGTGCCATCTTGACTCACTGCAACCTCTGCCTCTCAGGATCAAGTCATCCTCCCACCACAGCCTCCAGAGTAGCGAGGGCTACAGGCACGTGCCCCTATGCCTGGCTAATCTTTCTATTTTTGTATAGATGGGGTCTCACTGTGTTGCCCAAGCTGGTCTTGAACTCCTGAGCTCAAGTGATCTTCCCACCTTGGCCTCCCAAAGTGCTGGGATTAC... |
Task1_train_14085 | Here is a mutation in KCNMA1 (potassium calcium-activated channel subfamily M alpha 1) on Chromosome 10. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Liang-Wang syndrome | GGAGGGGCAGAATTCAGATGGCACCTCCACAGGGACTCCTGAAAGTCACTCAACCACATCTTTTCTGATGCAACTGACTTACTTTCTGCCTCCATGTTTGTTAAAAGTCCCGCCGAATTTATTCCGACTCAGGATGAGAGCAGCAATTTCGGGCACGTAGCGGGCAAACATTGCCTACATGCATGAAACAAAGAAACAAGAGCCAAAAAAAAAAAAAAATGGCATGCAGAGAGGATTCTACCGCAGCAGAGGCAGCAAAACCTCTTGGCATACTTACTTTCTTCCACTAACCGCACTATAGGAGCCCCCGTATTTCTTGC... | GGAGGGGCAGAATTCAGATGGCACCTCCACAGGGACTCCTGAAAGTCACTCAACCACATCTTTTCTGATGCAACTGACTTACTTTCTGCCTCCATGTTTGTTAAAAGTCCCGCCGAATTTATTCCGACTCAGGATGAGAGCAGCAATTTCGGGCACGTAGCGGGCAAACATTGCCTACATGCATGAAACAAAGAAACAAGAGCCAAAAAAAAAAAAAAATGGCATGCAGAGAGGATTCTACCGCAGCAGAGGCAGCAAAACCTCTTGGCATACTTACTTTCTTCCACTAACCGCACTATAGGAGCCCCCGTATTTCTTGC... |
Task1_train_14086 | A mutation found in POLR3A (RNA polymerase III subunit A) on Chromosome 10 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome | GATAAAATGACCTTACCCAAGGTGAGCTTTTAGCAACCTGTGATTTTTCTTTCAAAACAAATTGTGGACTCTACCTTTCATGTGAAGGTGAAAACTGGATAAATGGATACTCCATCCTATGCAAAAATTTCTGGGCTATTCAGCAGGTGTTGTCCCATCACTTCCCAGCCTTCGCCACCCCACTGCCCCCCACCAGATTTACATTAAAAATATAAGCTGTTATTTAAAAAACTCAAACATTTCAAGAGTGAAAATATTCTCCCACTTCTGAAGCTCATAAATTTCTCTTTTTTTTGAGATGGAGTCTTGCTGGATTGCCA... | GATAAAATGACCTTACCCAAGGTGAGCTTTTAGCAACCTGTGATTTTTCTTTCAAAACAAATTGTGGACTCTACCTTTCATGTGAAGGTGAAAACTGGATAAATGGATACTCCATCCTATGCAAAAATTTCTGGGCTATTCAGCAGGTGTTGTCCCATCACTTCCCAGCCTTCGCCACCCCACTGCCCCCCACCAGATTTACATTAAAAATATAAGCTGTTATTTAAAAAACTCAAACATTTCAAGAGTGAAAATATTCTCCCACTTCTGAAGCTCATAAATTTCTCTTTTTTTTGAGATGGAGTCTTGCTGGATTGCCA... |
Task1_train_14087 | The following genetic variant occurs in POLR3A (RNA polymerase III subunit A) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome | CACTCAAATCAGAAAATGCCCCACCTTGAGACTATAAATACCTGGCCAGTATATTCTCACTAAATGGCAGGCTTTCTTTGCCCTTTCCTTATGGAGAAATACTTTATACCAGGGACAAGGAGAATGAGGGCCCAGCCAGGGCTGGTGCTGGTGCCAGTGGCAGGCAAGTGGCCCAAGAGAGGGAAACCTAAGATCTGGATGCTCTCCTTAAAATAGGCAAGCAGTCAAGGACCTCAGAGGACACCCTGTGGATGGAGGCTGCCTGCCCATTCCCTGGGAAATGACACCTTCAAGATATCCTTCCTGTGGGCCAGACCTGC... | CACTCAAATCAGAAAATGCCCCACCTTGAGACTATAAATACCTGGCCAGTATATTCTCACTAAATGGCAGGCTTTCTTTGCCCTTTCCTTATGGAGAAATACTTTATACCAGGGACAAGGAGAATGAGGGCCCAGCCAGGGCTGGTGCTGGTGCCAGTGGCAGGCAAGTGGCCCAAGAGAGGGAAACCTAAGATCTGGATGCTCTCCTTAAAATAGGCAAGCAGTCAAGGACCTCAGAGGACACCCTGTGGATGGAGGCTGCCTGCCCATTCCCTGGGAAATGACACCTTCAAGATATCCTTCCTGTGGGCCAGACCTGC... |
Task1_train_14088 | A variant on Chromosome 10 in gene POLR3A (RNA polymerase III subunit A) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; POLR-related leukodystrophy | GGCTCCAGGCCCTTATTCCTGTAGGAGATGGGAGTTCGCTCCCAGCGAAATGGAATCAGAGAGGCTCTGGGTCTGGGAATACCAGGCAGATGAAATAACTGTAAACAAGAGCACTGAGGGAAAGTCTGTATATTCCTTTTATATAAAAAAACTGAGAGGTCCATCAACCAGTCAGCTCCATTTCCAATCAGTGTTTCAGTCCTTACTCCTCAAGGACCACCAGATATTTGAGGAAAGATTTTAACATGAAAGACAAAAGACACAAATGCACAGGAAAAAGAAAGTAAAAGGATACAGAAAATTCAGGAAGCAAATATAAT... | GGCTCCAGGCCCTTATTCCTGTAGGAGATGGGAGTTCGCTCCCAGCGAAATGGAATCAGAGAGGCTCTGGGTCTGGGAATACCAGGCAGATGAAATAACTGTAAACAAGAGCACTGAGGGAAAGTCTGTATATTCCTTTTATATAAAAAAACTGAGAGGTCCATCAACCAGTCAGCTCCATTTCCAATCAGTGTTTCAGTCCTTACTCCTCAAGGACCACCAGATATTTGAGGAAAGATTTTAACATGAAAGACAAAAGACACAAATGCACAGGAAAAAGAAAGTAAAAGGATACAGAAAATTCAGGAAGCAAATATAAT... |
Task1_train_14089 | With a mutation on Chromosome 10 in gene POLR3A (RNA polymerase III subunit A), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome | GGCTCCAGGCCCTTATTCCTGTAGGAGATGGGAGTTCGCTCCCAGCGAAATGGAATCAGAGAGGCTCTGGGTCTGGGAATACCAGGCAGATGAAATAACTGTAAACAAGAGCACTGAGGGAAAGTCTGTATATTCCTTTTATATAAAAAAACTGAGAGGTCCATCAACCAGTCAGCTCCATTTCCAATCAGTGTTTCAGTCCTTACTCCTCAAGGACCACCAGATATTTGAGGAAAGATTTTAACATGAAAGACAAAAGACACAAATGCACAGGAAAAAGAAAGTAAAAGGATACAGAAAATTCAGGAAGCAAATATAAT... | GGCTCCAGGCCCTTATTCCTGTAGGAGATGGGAGTTCGCTCCCAGCGAAATGGAATCAGAGAGGCTCTGGGTCTGGGAATACCAGGCAGATGAAATAACTGTAAACAAGAGCACTGAGGGAAAGTCTGTATATTCCTTTTATATAAAAAAACTGAGAGGTCCATCAACCAGTCAGCTCCATTTCCAATCAGTGTTTCAGTCCTTACTCCTCAAGGACCACCAGATATTTGAGGAAAGATTTTAACATGAAAGACAAAAGACACAAATGCACAGGAAAAAGAAAGTAAAAGGATACAGAAAATTCAGGAAGCAAATATAAT... |
Task1_train_14090 | A genetic alteration is present in LOC130004144, RPS24 (ATAC-STARR-seq lymphoblastoid active region 3613| ribosomal protein S24) on Chromosome 10. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Diamond-Blackfan anemia | GGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCTAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCTGCCTCGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCGGCTGACTATTTTCTTAAGAATAAGGATAGTTGGTCACCTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACTTGGGAGGCGGATGTTGCAGTGACCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGATGCGGTCTCAAAAAAAAAAAAAAAAACAAAAAACGAAAAAAAAG... | GGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCTAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCTGCCTCGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCGGCTGACTATTTTCTTAAGAATAAGGATAGTTGGTCACCTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACTTGGGAGGCGGATGTTGCAGTGACCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGATGCGGTCTCAAAAAAAAAAAAAAAAACAAAAAACGAAAAAAAAG... |
Task1_train_14091 | The gene LOC130004144, RPS24 (ATAC-STARR-seq lymphoblastoid active region 3613| ribosomal protein S24) on Chromosome 10 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Diamond-Blackfan anemia | GCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCTAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCTGCCTCGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCGGCTGACTATTTTCTTAAGAATAAGGATAGTTGGTCACCTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACTTGGGAGGCGGATGTTGCAGTGACCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGATGCGGTCTCAAAAAAAAAAAAAAAAACAAAAAACGAAAAAAAAGA... | GCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCTAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCTGCCTCGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCGGCTGACTATTTTCTTAAGAATAAGGATAGTTGGTCACCTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACTTGGGAGGCGGATGTTGCAGTGACCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGATGCGGTCTCAAAAAAAAAAAAAAAAACAAAAAACGAAAAAAAAGA... |
Task1_train_14092 | A genetic alteration is present in RPS24 (ribosomal protein S24) on Chromosome 10. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Diamond-Blackfan anemia 3 | CAAGTTTACCCACCTCTAACTCGGAAGAAGGCAATTTAAACTAATTTGGTTTACCGGAATTCAAATACGTACAATTCAACATAATGAATTGAACTGAAATTGAACACCTGCTTGCGTAAACCTAGTCGGCTCGAGTTGTTCTGGTTCTGGATTGGTCAGTCTAGAGTTCCAGGGGTGTGGCCAAAAGTCTGTGAGGCGGGGCCGTAGGCAGCCTAAATCAGGCATCGGCGCGGTCAGCCTCGTGGCGCGCCCACGCCCCCACGCCGGCTCTTCCCGGGGTCCTTCCGTGCGCGTTGATATGATTGGCCGGCGAATCGTGG... | CAAGTTTACCCACCTCTAACTCGGAAGAAGGCAATTTAAACTAATTTGGTTTACCGGAATTCAAATACGTACAATTCAACATAATGAATTGAACTGAAATTGAACACCTGCTTGCGTAAACCTAGTCGGCTCGAGTTGTTCTGGTTCTGGATTGGTCAGTCTAGAGTTCCAGGGGTGTGGCCAAAAGTCTGTGAGGCGGGGCCGTAGGCAGCCTAAATCAGGCATCGGCGCGGTCAGCCTCGTGGCGCGCCCACGCCCCCACGCCGGCTCTTCCCGGGGTCCTTCCGTGCGCGTTGATATGATTGGCCGGCGAATCGTGG... |
Task1_train_14093 | A variant on Chromosome 10 in gene ZMIZ1 (zinc finger MIZ-type containing 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | TGTATGGCCTGAGTTGGATTTCATCAAAATATTGTGCCTTGGACTTCTGACAACTCCCTACTCCCCATTGCCCTAGTCAGACCCACCTCCCTCTCATTCCTTCCTCTCTCTTCCACTCCTCCTCTGCCCAGTCAGGGAGTCTCCCACCTGTCTGACCTCTGCCAGCCTTTTCTGTGGCTACATGGAAGGCTCAGGGCTGCTTGTCACCCTGGAGGGAGCCACTGGGCTGACCGGTTGTCGCCTGCTCCTGCTGCCCTCCAGAGCTAGCAGGGTGGGTTCCTCTTGGCCCTCACAGAGCAGCAGCCAGGGGCCTTGGGGCC... | TGTATGGCCTGAGTTGGATTTCATCAAAATATTGTGCCTTGGACTTCTGACAACTCCCTACTCCCCATTGCCCTAGTCAGACCCACCTCCCTCTCATTCCTTCCTCTCTCTTCCACTCCTCCTCTGCCCAGTCAGGGAGTCTCCCACCTGTCTGACCTCTGCCAGCCTTTTCTGTGGCTACATGGAAGGCTCAGGGCTGCTTGTCACCCTGGAGGGAGCCACTGGGCTGACCGGTTGTCGCCTGCTCCTGCTGCCCTCCAGAGCTAGCAGGGTGGGTTCCTCTTGGCCCTCACAGAGCAGCAGCCAGGGGCCTTGGGGCC... |
Task1_train_14094 | This variant lies on Chromosome 10 and affects the gene ZMIZ1 (zinc finger MIZ-type containing 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | GTTGGATTTCATCAAAATATTGTGCCTTGGACTTCTGACAACTCCCTACTCCCCATTGCCCTAGTCAGACCCACCTCCCTCTCATTCCTTCCTCTCTCTTCCACTCCTCCTCTGCCCAGTCAGGGAGTCTCCCACCTGTCTGACCTCTGCCAGCCTTTTCTGTGGCTACATGGAAGGCTCAGGGCTGCTTGTCACCCTGGAGGGAGCCACTGGGCTGACCGGTTGTCGCCTGCTCCTGCTGCCCTCCAGAGCTAGCAGGGTGGGTTCCTCTTGGCCCTCACAGAGCAGCAGCCAGGGGCCTTGGGGCCCCTGTGTGACAA... | GTTGGATTTCATCAAAATATTGTGCCTTGGACTTCTGACAACTCCCTACTCCCCATTGCCCTAGTCAGACCCACCTCCCTCTCATTCCTTCCTCTCTCTTCCACTCCTCCTCTGCCCAGTCAGGGAGTCTCCCACCTGTCTGACCTCTGCCAGCCTTTTCTGTGGCTACATGGAAGGCTCAGGGCTGCTTGTCACCCTGGAGGGAGCCACTGGGCTGACCGGTTGTCGCCTGCTCCTGCTGCCCTCCAGAGCTAGCAGGGTGGGTTCCTCTTGGCCCTCACAGAGCAGCAGCCAGGGGCCTTGGGGCCCCTGTGTGACAA... |
Task1_train_14095 | An alteration has been detected in SFTPA2 (surfactant protein A2) on Chromosome 10. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Interstitial lung disease 2 | TGGGTCCCAAGCACATGTGGAATGGTGACCAGATTAAAAATTATCATTCAGAAAAGAATCAGAAATTATTCCCCTCATTCTCATCTGATTTTGTGGGTCTTGATCCAGAGCTTGCCTCTGCCCAAGAAAAGCAGTAAATCCACGAGAGAGAGTGTTCGCAGGTGTGAGGGTGGGAGTAGTGGGAGCCTTTCTGGAGGTGGGACACATACGTGGCTGCCTCCTCAAGCAATTGGGGACATTGTCTCAATCCTGCACAGCCCTGGGGTATGGGGCAGTGGTCCCATTTCAAGCCGACATGAGACTAGGATGGCTCACTGAGG... | TGGGTCCCAAGCACATGTGGAATGGTGACCAGATTAAAAATTATCATTCAGAAAAGAATCAGAAATTATTCCCCTCATTCTCATCTGATTTTGTGGGTCTTGATCCAGAGCTTGCCTCTGCCCAAGAAAAGCAGTAAATCCACGAGAGAGAGTGTTCGCAGGTGTGAGGGTGGGAGTAGTGGGAGCCTTTCTGGAGGTGGGACACATACGTGGCTGCCTCCTCAAGCAATTGGGGACATTGTCTCAATCCTGCACAGCCCTGGGGTATGGGGCAGTGGTCCCATTTCAAGCCGACATGAGACTAGGATGGCTCACTGAGG... |
Task1_train_14096 | Chromosome 10 houses a mutation in gene SFTPA2 (surfactant protein A2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Interstitial lung disease 2 | CCAGAGCTTGCCTCTGCCCAAGAAAAGCAGTAAATCCACGAGAGAGAGTGTTCGCAGGTGTGAGGGTGGGAGTAGTGGGAGCCTTTCTGGAGGTGGGACACATACGTGGCTGCCTCCTCAAGCAATTGGGGACATTGTCTCAATCCTGCACAGCCCTGGGGTATGGGGCAGTGGTCCCATTTCAAGCCGACATGAGACTAGGATGGCTCACTGAGGCCTGGAACTGAGCCCTGAGTGCCAACATCACTGCTGGGCTGCAGAAATCATTCAGGTGGCTGCGCAGAGGACGGAAGGCATTATATCCCCACCCACAAATGCAC... | CCAGAGCTTGCCTCTGCCCAAGAAAAGCAGTAAATCCACGAGAGAGAGTGTTCGCAGGTGTGAGGGTGGGAGTAGTGGGAGCCTTTCTGGAGGTGGGACACATACGTGGCTGCCTCCTCAAGCAATTGGGGACATTGTCTCAATCCTGCACAGCCCTGGGGTATGGGGCAGTGGTCCCATTTCAAGCCGACATGAGACTAGGATGGCTCACTGAGGCCTGGAACTGAGCCCTGAGTGCCAACATCACTGCTGGGCTGCAGAAATCATTCAGGTGGCTGCGCAGAGGACGGAAGGCATTATATCCCCACCCACAAATGCAC... |
Task1_train_14097 | The gene SFTPA2 (surfactant protein A2) is located on Chromosome 10, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Interstitial lung disease 2 | CCTTTCTGGAGGTGGGACACATACGTGGCTGCCTCCTCAAGCAATTGGGGACATTGTCTCAATCCTGCACAGCCCTGGGGTATGGGGCAGTGGTCCCATTTCAAGCCGACATGAGACTAGGATGGCTCACTGAGGCCTGGAACTGAGCCCTGAGTGCCAACATCACTGCTGGGCTGCAGAAATCATTCAGGTGGCTGCGCAGAGGACGGAAGGCATTATATCCCCACCCACAAATGCACCACATGGATTCAAGATGCCCATGTGTTCTTCCAAATGGTGTCTGTAGCTCCCCAACCTCCAGCAGCATCATAGCGAGGAGA... | CCTTTCTGGAGGTGGGACACATACGTGGCTGCCTCCTCAAGCAATTGGGGACATTGTCTCAATCCTGCACAGCCCTGGGGTATGGGGCAGTGGTCCCATTTCAAGCCGACATGAGACTAGGATGGCTCACTGAGGCCTGGAACTGAGCCCTGAGTGCCAACATCACTGCTGGGCTGCAGAAATCATTCAGGTGGCTGCGCAGAGGACGGAAGGCATTATATCCCCACCCACAAATGCACCACATGGATTCAAGATGCCCATGTGTTCTTCCAAATGGTGTCTGTAGCTCCCCAACCTCCAGCAGCATCATAGCGAGGAGA... |
Task1_train_14098 | Gene SFTPA1 (surfactant protein A1), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Interstitial lung disease 1 | AACCTCATCTTGATGGCAGCCTCTGGTGCTGTGTGCGAAGTGAAGGACGTTTGTGTTGGAAGCCCTGGTATCCCCGGCACTCCTGGATCCCACGGCCTGCCAGGCAGGGACGGGAGAGATGGTCTCAAAGGAGACCCTGGCCCTCCAGGTACTGTGCTGCAGACCCCACCCTCAGCTGAGGGACACAGACCCCTTTTCAGGAGGCCCATCTGTCCAGGCCCCTAGGCTGTGGGCCATAGTGAGCTGGGGGCTATAGTAAGCTGGGTGGGACTTCAGTCTGCAGGGCTGGTGGGTTCCTGGGGCCCTTATGATGGCGCATC... | AACCTCATCTTGATGGCAGCCTCTGGTGCTGTGTGCGAAGTGAAGGACGTTTGTGTTGGAAGCCCTGGTATCCCCGGCACTCCTGGATCCCACGGCCTGCCAGGCAGGGACGGGAGAGATGGTCTCAAAGGAGACCCTGGCCCTCCAGGTACTGTGCTGCAGACCCCACCCTCAGCTGAGGGACACAGACCCCTTTTCAGGAGGCCCATCTGTCCAGGCCCCTAGGCTGTGGGCCATAGTGAGCTGGGGGCTATAGTAAGCTGGGTGGGACTTCAGTCTGCAGGGCTGGTGGGTTCCTGGGGCCCTTATGATGGCGCATC... |
Task1_train_14099 | This is a variant in SFTPA1 (surfactant protein A1), located on Chromosome 10. Is this mutation a likely cause of disease or not? | Pathogenic; Interstitial lung disease 1 | CACGGCCTGCCAGGCAGGGACGGGAGAGATGGTCTCAAAGGAGACCCTGGCCCTCCAGGTACTGTGCTGCAGACCCCACCCTCAGCTGAGGGACACAGACCCCTTTTCAGGAGGCCCATCTGTCCAGGCCCCTAGGCTGTGGGCCATAGTGAGCTGGGGGCTATAGTAAGCTGGGTGGGACTTCAGTCTGCAGGGCTGGTGGGTTCCTGGGGCCCTTATGATGGCGCATCCTGGAGAGTCTGTCCTCATAGTGCCCACGGAGTGATAGAGTGATAGCTGAGCCAGCCCTGGTGATAATGGGCATCGAGTCTCACTAGCTC... | CACGGCCTGCCAGGCAGGGACGGGAGAGATGGTCTCAAAGGAGACCCTGGCCCTCCAGGTACTGTGCTGCAGACCCCACCCTCAGCTGAGGGACACAGACCCCTTTTCAGGAGGCCCATCTGTCCAGGCCCCTAGGCTGTGGGCCATAGTGAGCTGGGGGCTATAGTAAGCTGGGTGGGACTTCAGTCTGCAGGGCTGGTGGGTTCCTGGGGCCCTTATGATGGCGCATCCTGGAGAGTCTGTCCTCATAGTGCCCACGGAGTGATAGAGTGATAGCTGAGCCAGCCCTGGTGATAATGGGCATCGAGTCTCACTAGCTC... |
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