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_14300 | This is a variant in LGI1 (leucine rich glioma inactivated 1), located on Chromosome 10. Is this mutation a likely cause of disease or not? | Pathogenic; LGI1-related disorder | AGGTGAATTCCTCTTTGTCCAACAAATATTTATTCAGTGTCCACTAGAGGACAGGCGCTGTATCACAGGTGCTAGGGATAAGAAATGAACAAGCAGACAAAAAATCTAGCAGAAATCCTCTCTTTTCTTCCCGTGACGTGCATGGGCAAGTTCTGCCCACTAATATTCATTTCCCACTATGTCCTGCATCTGATTTAACATAAAGGGAAGTAGCAATGGAAACTATTTCTTCTGGCAACTTGGAATATGAGAAGTCCCTGGTCCTTGGGCCATTTTTCAAATCAGTGAGTGTGGGAGGTATAATATTTGTGTGTACCAAT... | AGGTGAATTCCTCTTTGTCCAACAAATATTTATTCAGTGTCCACTAGAGGACAGGCGCTGTATCACAGGTGCTAGGGATAAGAAATGAACAAGCAGACAAAAAATCTAGCAGAAATCCTCTCTTTTCTTCCCGTGACGTGCATGGGCAAGTTCTGCCCACTAATATTCATTTCCCACTATGTCCTGCATCTGATTTAACATAAAGGGAAGTAGCAATGGAAACTATTTCTTCTGGCAACTTGGAATATGAGAAGTCCCTGGTCCTTGGGCCATTTTTCAAATCAGTGAGTGTGGGAGGTATAATATTTGTGTGTACCAAT... |
Task1_train_14301 | Here’s a variant in LGI1 (leucine rich glioma inactivated 1) located on Chromosome 10. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Epilepsy, familial temporal lobe, 1 | TGAATGATATGGTTTAATTCCAGGAGAATGCCCAAATCAGGATTCTTCCAAGAGAGTCCTGGACAGACCATAGTTATCCTCTCTGGTTTACAGTAGCCTGAAAGGTTGCCACTCATTAGTGTGGGTCAGAGTTCTCTTGGGAGACTAGGTCAGTTCTGGGAGTGTCTTGGAAGTTAGAACACACTCCATGGGTGACGTGGGATGTAGCTCATTGGGGGTCCTTTACCCCATTTTTGTGTCAGTCTATACCCTACACTAGTGAAAGACAAAACAAAAAAATATTGAAATTGGCTCAGTCTCTCATGGGAATCCCAAGATGG... | TGAATGATATGGTTTAATTCCAGGAGAATGCCCAAATCAGGATTCTTCCAAGAGAGTCCTGGACAGACCATAGTTATCCTCTCTGGTTTACAGTAGCCTGAAAGGTTGCCACTCATTAGTGTGGGTCAGAGTTCTCTTGGGAGACTAGGTCAGTTCTGGGAGTGTCTTGGAAGTTAGAACACACTCCATGGGTGACGTGGGATGTAGCTCATTGGGGGTCCTTTACCCCATTTTTGTGTCAGTCTATACCCTACACTAGTGAAAGACAAAACAAAAAAATATTGAAATTGGCTCAGTCTCTCATGGGAATCCCAAGATGG... |
Task1_train_14302 | This variant lies on Chromosome 10 and affects the gene LGI1 (leucine rich glioma inactivated 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Epilepsy, familial temporal lobe, 1 | CCCCCATAAGTTTTCCAGTGGACTATAGCAGGGTTTTGTGCGGTCGAAACCAGGCTTTTCTTACTTGTGTATGGTTCATCAATTTCTTTGAATGACTCTTTAGATGAGCACTTACAAGAGAAATAAATCATACATCTGCAAACTTTCTGAGGGCATCTCAGAGCTCATCTTGTCTAGGATGATGTCTTAGTCCCTTCCTGCTGCTGTAACAAAAAATACCTTGACTGCGTAATTTATAAGAACAGAAATTTATTTCTCATAGTTCTGGAGGCTGGGAACTCCATGATCAAGGCACCAGGAGATTTAGGGTCTGGTGAGGG... | CCCCCATAAGTTTTCCAGTGGACTATAGCAGGGTTTTGTGCGGTCGAAACCAGGCTTTTCTTACTTGTGTATGGTTCATCAATTTCTTTGAATGACTCTTTAGATGAGCACTTACAAGAGAAATAAATCATACATCTGCAAACTTTCTGAGGGCATCTCAGAGCTCATCTTGTCTAGGATGATGTCTTAGTCCCTTCCTGCTGCTGTAACAAAAAATACCTTGACTGCGTAATTTATAAGAACAGAAATTTATTTCTCATAGTTCTGGAGGCTGGGAACTCCATGATCAAGGCACCAGGAGATTTAGGGTCTGGTGAGGG... |
Task1_train_14303 | A sequence alteration has been identified in LGI1 (leucine rich glioma inactivated 1) on Chromosome 10. Is it disease-inducing or harmless? | Pathogenic; Epilepsy, familial temporal lobe, 1 | TTACTTGTGTATGGTTCATCAATTTCTTTGAATGACTCTTTAGATGAGCACTTACAAGAGAAATAAATCATACATCTGCAAACTTTCTGAGGGCATCTCAGAGCTCATCTTGTCTAGGATGATGTCTTAGTCCCTTCCTGCTGCTGTAACAAAAAATACCTTGACTGCGTAATTTATAAGAACAGAAATTTATTTCTCATAGTTCTGGAGGCTGGGAACTCCATGATCAAGGCACCAGGAGATTTAGGGTCTGGTGAGGGCTCACTCTCTGCTTCAAAGACGGTGCCTTCTCTGTGTCCTAACATGGCAGAAGGGCAAAA... | TTACTTGTGTATGGTTCATCAATTTCTTTGAATGACTCTTTAGATGAGCACTTACAAGAGAAATAAATCATACATCTGCAAACTTTCTGAGGGCATCTCAGAGCTCATCTTGTCTAGGATGATGTCTTAGTCCCTTCCTGCTGCTGTAACAAAAAATACCTTGACTGCGTAATTTATAAGAACAGAAATTTATTTCTCATAGTTCTGGAGGCTGGGAACTCCATGATCAAGGCACCAGGAGATTTAGGGTCTGGTGAGGGCTCACTCTCTGCTTCAAAGACGGTGCCTTCTCTGTGTCCTAACATGGCAGAAGGGCAAAA... |
Task1_train_14304 | Located on Chromosome 10, this mutation impacts LGI1 (leucine rich glioma inactivated 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Epilepsy, familial temporal lobe, 1 | TCCTGCTGCTGTAACAAAAAATACCTTGACTGCGTAATTTATAAGAACAGAAATTTATTTCTCATAGTTCTGGAGGCTGGGAACTCCATGATCAAGGCACCAGGAGATTTAGGGTCTGGTGAGGGCTCACTCTCTGCTTCAAAGACGGTGCCTTCTCTGTGTCCTAACATGGCAGAAGGGCAAAAAAAGATCTAACAGACTCGCTCAAGCCCTTTTGCAAGGGCACAAATTCCATTCATGAGTGTGGAGTCCTCATGATCTAATCACCTCCTAGACACCCCACTTCTTAATACTATTACACTGGGGATTAAGCTACAACA... | TCCTGCTGCTGTAACAAAAAATACCTTGACTGCGTAATTTATAAGAACAGAAATTTATTTCTCATAGTTCTGGAGGCTGGGAACTCCATGATCAAGGCACCAGGAGATTTAGGGTCTGGTGAGGGCTCACTCTCTGCTTCAAAGACGGTGCCTTCTCTGTGTCCTAACATGGCAGAAGGGCAAAAAAAGATCTAACAGACTCGCTCAAGCCCTTTTGCAAGGGCACAAATTCCATTCATGAGTGTGGAGTCCTCATGATCTAATCACCTCCTAGACACCCCACTTCTTAATACTATTACACTGGGGATTAAGCTACAACA... |
Task1_train_14305 | This is a variant in PLCE1 (phospholipase C epsilon 1), located on Chromosome 10. Is this mutation a likely cause of disease or not? | Pathogenic; Nephrotic syndrome, type 3 | TAAATGTTTAGCCAGTTCATTAAGGACTCAGTGGCCTTATTTTCTCTGGGCTGTGGCATCAGCATTTTCACCTCCATTGATGTCTACCCAGATAGAGAGCACTTGCCTGGCTCTCTAATTTGAAGACGTGCCCTTTCAAGGGGCCAAAGTTGCTAGGAAAATGGCCATATGGTTTTGCTATCAAATTTTACTTTCCTTTAATATCCAGCTCTGGTAAACACTCTTTCTACCTTAATCTGTTCCCTTCCTTCCCCACTCTGGATTAATTGTGGCCTTTGGCAAAAATGCCATGTTTGTTTTAGACCATTTGCCCTTCTGCT... | TAAATGTTTAGCCAGTTCATTAAGGACTCAGTGGCCTTATTTTCTCTGGGCTGTGGCATCAGCATTTTCACCTCCATTGATGTCTACCCAGATAGAGAGCACTTGCCTGGCTCTCTAATTTGAAGACGTGCCCTTTCAAGGGGCCAAAGTTGCTAGGAAAATGGCCATATGGTTTTGCTATCAAATTTTACTTTCCTTTAATATCCAGCTCTGGTAAACACTCTTTCTACCTTAATCTGTTCCCTTCCTTCCCCACTCTGGATTAATTGTGGCCTTTGGCAAAAATGCCATGTTTGTTTTAGACCATTTGCCCTTCTGCT... |
Task1_train_14306 | The gene HELLS (helicase, lymphoid specific) is located on Chromosome 10, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Immunodeficiency-centromeric instability-facial anomalies syndrome 4 | ACATTTTGATTTAGTACTAAGAAGTCTTAATTTTTGATTCACAAATATATATATCTTCTGGCACAATCTTATTAATAATATCCTACTTAACCATCACTGTAAGAATATTGGGATAGCAGGAAATTTTTTGCCTTTTTGCCCTGTCCTCAACTTTCTATTATGAAAATATCAACTATATGGCAAAGTTGAAAAAAAAAAAGCAACTGTAAATCCGCCTACAATCTGCTGTTAACATTTGACTATACCTTTTTAAAAACACATTTCCTGTAATAGCAGCCTTGCTGTATCCATTCAGCATTTAATCCTGGTTTTTTGGTGCA... | ACATTTTGATTTAGTACTAAGAAGTCTTAATTTTTGATTCACAAATATATATATCTTCTGGCACAATCTTATTAATAATATCCTACTTAACCATCACTGTAAGAATATTGGGATAGCAGGAAATTTTTTGCCTTTTTGCCCTGTCCTCAACTTTCTATTATGAAAATATCAACTATATGGCAAAGTTGAAAAAAAAAAAGCAACTGTAAATCCGCCTACAATCTGCTGTTAACATTTGACTATACCTTTTTAAAAACACATTTCCTGTAATAGCAGCCTTGCTGTATCCATTCAGCATTTAATCCTGGTTTTTTGGTGCA... |
Task1_train_14307 | A variant has been detected on Chromosome 10 in CYP2C9 (cytochrome P450 family 2 subfamily C member 9). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Warfarin response | TTGGTGAGAATGTTGAGAAATATGAACCCTCTTACACTGTTGGTAGGAGTGTAAATTAGTTCAACCATTGTGGAAGACAGTGTGGTGATTCCTTAAGGATCTAGAACTAGAAATTCCACTTGACTCAGCAATCCCATTACTGGGTATATGCCCAAAGGATTATAAACCATTCTACTATAATGACACACGCCCATGTATGTTTATGTGGCACCGTTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCATCAATGATGTACTGGATAAAGAAAATGTGGCACATATACACCATGGAATACTACACAGCCATAAAAAA... | TTGGTGAGAATGTTGAGAAATATGAACCCTCTTACACTGTTGGTAGGAGTGTAAATTAGTTCAACCATTGTGGAAGACAGTGTGGTGATTCCTTAAGGATCTAGAACTAGAAATTCCACTTGACTCAGCAATCCCATTACTGGGTATATGCCCAAAGGATTATAAACCATTCTACTATAATGACACACGCCCATGTATGTTTATGTGGCACCGTTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCATCAATGATGTACTGGATAAAGAAAATGTGGCACATATACACCATGGAATACTACACAGCCATAAAAAA... |
Task1_train_14308 | The gene ALDH18A1 (aldehyde dehydrogenase 18 family member A1) on Chromosome 10 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; ALDH18A1-related de Barsy syndrome | CACTCCTCTGCCTATGGTTTTTCCTTCTTCCTGCTGGCTGGAATGCAGTCCTGATGGTTGGAATGCCACTACCATGTGGACAAGAGCCTTACCCTAGGACAGAAGAGAATAAATCAAAAGCAGCCCCAGTGCCTGATGGCCTTCATGGAGGCATTAAGTCAGCCTTGAAGCTGCCTACCTCCAGAGCTCTTTTTACATGAGAGAAACAGGAATGATCAAGTTCAAGCCCCAATTCTTTGAAGTTTCTGTGGCATGCAGTTCAACTCAATGTGTGCATTTATAGCAATGATTGATGCAGGCCAGTTTAATGAGTGAAGCTT... | CACTCCTCTGCCTATGGTTTTTCCTTCTTCCTGCTGGCTGGAATGCAGTCCTGATGGTTGGAATGCCACTACCATGTGGACAAGAGCCTTACCCTAGGACAGAAGAGAATAAATCAAAAGCAGCCCCAGTGCCTGATGGCCTTCATGGAGGCATTAAGTCAGCCTTGAAGCTGCCTACCTCCAGAGCTCTTTTTACATGAGAGAAACAGGAATGATCAAGTTCAAGCCCCAATTCTTTGAAGTTTCTGTGGCATGCAGTTCAACTCAATGTGTGCATTTATAGCAATGATTGATGCAGGCCAGTTTAATGAGTGAAGCTT... |
Task1_train_14309 | A variant found in Chromosome 10 affects ALDH18A1 (aldehyde dehydrogenase 18 family member A1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; ALDH18A1-related de Barsy syndrome | GAGAATAAATCAAAAGCAGCCCCAGTGCCTGATGGCCTTCATGGAGGCATTAAGTCAGCCTTGAAGCTGCCTACCTCCAGAGCTCTTTTTACATGAGAGAAACAGGAATGATCAAGTTCAAGCCCCAATTCTTTGAAGTTTCTGTGGCATGCAGTTCAACTCAATGTGTGCATTTATAGCAATGATTGATGCAGGCCAGTTTAATGAGTGAAGCTTGGGGTTTCTGTCTGATGATGATAGTGGTCTTTCTCAGGGCCCAGATGCAGGCCTGCCTTCTCAGTGGTCTTCCCCAAGGGCCCCAGCTCTCTTGGGCTGCCTTC... | GAGAATAAATCAAAAGCAGCCCCAGTGCCTGATGGCCTTCATGGAGGCATTAAGTCAGCCTTGAAGCTGCCTACCTCCAGAGCTCTTTTTACATGAGAGAAACAGGAATGATCAAGTTCAAGCCCCAATTCTTTGAAGTTTCTGTGGCATGCAGTTCAACTCAATGTGTGCATTTATAGCAATGATTGATGCAGGCCAGTTTAATGAGTGAAGCTTGGGGTTTCTGTCTGATGATGATAGTGGTCTTTCTCAGGGCCCAGATGCAGGCCTGCCTTCTCAGTGGTCTTCCCCAAGGGCCCCAGCTCTCTTGGGCTGCCTTC... |
Task1_train_14310 | A mutation on Chromosome 10 affecting ALDH18A1 (aldehyde dehydrogenase 18 family member A1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Cutis laxa, autosomal dominant 3 | GAGAATAAATCAAAAGCAGCCCCAGTGCCTGATGGCCTTCATGGAGGCATTAAGTCAGCCTTGAAGCTGCCTACCTCCAGAGCTCTTTTTACATGAGAGAAACAGGAATGATCAAGTTCAAGCCCCAATTCTTTGAAGTTTCTGTGGCATGCAGTTCAACTCAATGTGTGCATTTATAGCAATGATTGATGCAGGCCAGTTTAATGAGTGAAGCTTGGGGTTTCTGTCTGATGATGATAGTGGTCTTTCTCAGGGCCCAGATGCAGGCCTGCCTTCTCAGTGGTCTTCCCCAAGGGCCCCAGCTCTCTTGGGCTGCCTTC... | GAGAATAAATCAAAAGCAGCCCCAGTGCCTGATGGCCTTCATGGAGGCATTAAGTCAGCCTTGAAGCTGCCTACCTCCAGAGCTCTTTTTACATGAGAGAAACAGGAATGATCAAGTTCAAGCCCCAATTCTTTGAAGTTTCTGTGGCATGCAGTTCAACTCAATGTGTGCATTTATAGCAATGATTGATGCAGGCCAGTTTAATGAGTGAAGCTTGGGGTTTCTGTCTGATGATGATAGTGGTCTTTCTCAGGGCCCAGATGCAGGCCTGCCTTCTCAGTGGTCTTCCCCAAGGGCCCCAGCTCTCTTGGGCTGCCTTC... |
Task1_train_14311 | A variant affecting Chromosome 10, within the gene ALDH18A1 (aldehyde dehydrogenase 18 family member A1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Autosomal dominant spastic paraplegia type 9 | GAGAATAAATCAAAAGCAGCCCCAGTGCCTGATGGCCTTCATGGAGGCATTAAGTCAGCCTTGAAGCTGCCTACCTCCAGAGCTCTTTTTACATGAGAGAAACAGGAATGATCAAGTTCAAGCCCCAATTCTTTGAAGTTTCTGTGGCATGCAGTTCAACTCAATGTGTGCATTTATAGCAATGATTGATGCAGGCCAGTTTAATGAGTGAAGCTTGGGGTTTCTGTCTGATGATGATAGTGGTCTTTCTCAGGGCCCAGATGCAGGCCTGCCTTCTCAGTGGTCTTCCCCAAGGGCCCCAGCTCTCTTGGGCTGCCTTC... | GAGAATAAATCAAAAGCAGCCCCAGTGCCTGATGGCCTTCATGGAGGCATTAAGTCAGCCTTGAAGCTGCCTACCTCCAGAGCTCTTTTTACATGAGAGAAACAGGAATGATCAAGTTCAAGCCCCAATTCTTTGAAGTTTCTGTGGCATGCAGTTCAACTCAATGTGTGCATTTATAGCAATGATTGATGCAGGCCAGTTTAATGAGTGAAGCTTGGGGTTTCTGTCTGATGATGATAGTGGTCTTTCTCAGGGCCCAGATGCAGGCCTGCCTTCTCAGTGGTCTTCCCCAAGGGCCCCAGCTCTCTTGGGCTGCCTTC... |
Task1_train_14312 | A mutation in ALDH18A1 (aldehyde dehydrogenase 18 family member A1), located on Chromosome 10, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; de Barsy syndrome | GAGAATAAATCAAAAGCAGCCCCAGTGCCTGATGGCCTTCATGGAGGCATTAAGTCAGCCTTGAAGCTGCCTACCTCCAGAGCTCTTTTTACATGAGAGAAACAGGAATGATCAAGTTCAAGCCCCAATTCTTTGAAGTTTCTGTGGCATGCAGTTCAACTCAATGTGTGCATTTATAGCAATGATTGATGCAGGCCAGTTTAATGAGTGAAGCTTGGGGTTTCTGTCTGATGATGATAGTGGTCTTTCTCAGGGCCCAGATGCAGGCCTGCCTTCTCAGTGGTCTTCCCCAAGGGCCCCAGCTCTCTTGGGCTGCCTTC... | GAGAATAAATCAAAAGCAGCCCCAGTGCCTGATGGCCTTCATGGAGGCATTAAGTCAGCCTTGAAGCTGCCTACCTCCAGAGCTCTTTTTACATGAGAGAAACAGGAATGATCAAGTTCAAGCCCCAATTCTTTGAAGTTTCTGTGGCATGCAGTTCAACTCAATGTGTGCATTTATAGCAATGATTGATGCAGGCCAGTTTAATGAGTGAAGCTTGGGGTTTCTGTCTGATGATGATAGTGGTCTTTCTCAGGGCCCAGATGCAGGCCTGCCTTCTCAGTGGTCTTCCCCAAGGGCCCCAGCTCTCTTGGGCTGCCTTC... |
Task1_train_14313 | Given a variant located on Chromosome 10 and affecting ALDH18A1 (aldehyde dehydrogenase 18 family member A1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Hereditary spastic paraplegia 9A | TTGTACTTCTGGCTGGCCTGTTTGTTTTGATGCTGGTACTTAGGCCCACGGCACCTTCTTTTGTCCTACCATTGTGGGGTTTCCTATCTCCGAGGCAACCTGGCTGTGCCATTTTGACGAAATAAGTCTGTAAAAGGAGTGCTCTCAAGGGACACAGCATGTACCTCTGGCGCAGCCTGTGTAAAAAGGCAGGCTGTGGTTGCCCACGCTGTAGCGGGAGAACCCAGGCTTTGGACTTGCTCAAGTTTGGGTCTGAATGCCAGCTGTGGGACTTTGGGCAAGTTACTATACTTCTCTGAATCTCATTCTCCCTCTTTGAA... | TTGTACTTCTGGCTGGCCTGTTTGTTTTGATGCTGGTACTTAGGCCCACGGCACCTTCTTTTGTCCTACCATTGTGGGGTTTCCTATCTCCGAGGCAACCTGGCTGTGCCATTTTGACGAAATAAGTCTGTAAAAGGAGTGCTCTCAAGGGACACAGCATGTACCTCTGGCGCAGCCTGTGTAAAAAGGCAGGCTGTGGTTGCCCACGCTGTAGCGGGAGAACCCAGGCTTTGGACTTGCTCAAGTTTGGGTCTGAATGCCAGCTGTGGGACTTTGGGCAAGTTACTATACTTCTCTGAATCTCATTCTCCCTCTTTGAA... |
Task1_train_14314 | The gene ALDH18A1 (aldehyde dehydrogenase 18 family member A1) on Chromosome 10 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Autosomal recessive complex spastic paraplegia type 9B | CACGCCTGTAATCCCAGTACTTTGGGAGGCTGAGACGGGTGGATAACTTGAGGTCAGGAGTTCAAAAACCAACCTGGCCAACATGGTGAAACCCCGTCTTTACTAAAAAAATTAGCAGGGCATGGTGGCAGGTGCCTGTAATCTCAGCTACTTGGGAGGTTCAAGCAGGAGGAGAACTGCTTGAACCTGGAAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGGCACAGAGCAAGACTCCGTCTCAAAGAAAAAAAAAAGAATAAAAAAGAATGTGCAAGGCGTTTAGTGGGTTATCAACAC... | CACGCCTGTAATCCCAGTACTTTGGGAGGCTGAGACGGGTGGATAACTTGAGGTCAGGAGTTCAAAAACCAACCTGGCCAACATGGTGAAACCCCGTCTTTACTAAAAAAATTAGCAGGGCATGGTGGCAGGTGCCTGTAATCTCAGCTACTTGGGAGGTTCAAGCAGGAGGAGAACTGCTTGAACCTGGAAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGGCACAGAGCAAGACTCCGTCTCAAAGAAAAAAAAAAGAATAAAAAAGAATGTGCAAGGCGTTTAGTGGGTTATCAACAC... |
Task1_train_14315 | The following genetic variant occurs in ALDH18A1 (aldehyde dehydrogenase 18 family member A1) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; ALDH18A1-related de Barsy syndrome | ACACTACTCCAGGCCATGAAGATCACAAAAGGGAGTGGCTTCTCTGTTGGTTTTCTATTCACAGCATTGAGGAAATGTTGGGTTGGTCTTGCTAGGGAGTCATGGTTCTCATGACTTCTGATGGCAACTTCTACCCTGGGATGTGGATTAGAATGACTTAAAGAGCCTGTGAGAGGATACTGAGATTATGGGCATTTTGTTTTCTCTTGATTTTTAATTTTTCTCCACATGGTCATATTACTTTTATAACAAATATATATGTGTGCCAGAATGTTCACAGCAACTTTATTCCACATAGCCCAAAACTGGAAACAATCTAA... | ACACTACTCCAGGCCATGAAGATCACAAAAGGGAGTGGCTTCTCTGTTGGTTTTCTATTCACAGCATTGAGGAAATGTTGGGTTGGTCTTGCTAGGGAGTCATGGTTCTCATGACTTCTGATGGCAACTTCTACCCTGGGATGTGGATTAGAATGACTTAAAGAGCCTGTGAGAGGATACTGAGATTATGGGCATTTTGTTTTCTCTTGATTTTTAATTTTTCTCCACATGGTCATATTACTTTTATAACAAATATATATGTGTGCCAGAATGTTCACAGCAACTTTATTCCACATAGCCCAAAACTGGAAACAATCTAA... |
Task1_train_14316 | Gene ALDH18A1 (aldehyde dehydrogenase 18 family member A1), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; P5CS deficiency | AACAGAGAACAGGTCCTGCCATGTTAACCTGCCTTGATGTGGGCTGGGAATTAAGTAGAGGTTTTCTAACCTTCTGGGAGTGTTAACAGGGGACTTTTGGAATCCTAGATTTTGGACACAGCTACTATATTTCTTATGGGTCAGACTGTGAAATGGAAATAGCTTAAGAAAGCTTGAGAGGAGTGAATGGAAAGACATATTAGAGCCAAGAGTGGCCCCTCCAGGAAGAAGGGAACAGCAGAGAAGAACAGAGTAACATATAAGAATATGGTACCCAGATAGCCTAGACTTCTACAGTGGCTCCAACTTAAAACAATCTG... | AACAGAGAACAGGTCCTGCCATGTTAACCTGCCTTGATGTGGGCTGGGAATTAAGTAGAGGTTTTCTAACCTTCTGGGAGTGTTAACAGGGGACTTTTGGAATCCTAGATTTTGGACACAGCTACTATATTTCTTATGGGTCAGACTGTGAAATGGAAATAGCTTAAGAAAGCTTGAGAGGAGTGAATGGAAAGACATATTAGAGCCAAGAGTGGCCCCTCCAGGAAGAAGGGAACAGCAGAGAAGAACAGAGTAACATATAAGAATATGGTACCCAGATAGCCTAGACTTCTACAGTGGCTCCAACTTAAAACAATCTG... |
Task1_train_14317 | Assess the clinical impact of this variant on gene ALDH18A1 (aldehyde dehydrogenase 18 family member A1), found on Chromosome 10. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Hereditary spastic paraplegia 9A | ATAAGAATGTTGATGTCTTGGGGAAAAATAAAATGGAGCATATTTTTGAAAGGGAAGATCATGAACTCCTTTTCAGAAAAGCTTAGTGCTGTTGGACACAGGACTAGGTCCAAACTGAACATATAGATTCTAGTCACGATGGTGAAAGATCAAACAATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAAT... | ATAAGAATGTTGATGTCTTGGGGAAAAATAAAATGGAGCATATTTTTGAAAGGGAAGATCATGAACTCCTTTTCAGAAAAGCTTAGTGCTGTTGGACACAGGACTAGGTCCAAACTGAACATATAGATTCTAGTCACGATGGTGAAAGATCAAACAATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAAT... |
Task1_train_14318 | Chromosome 10 houses a mutation in gene ALDH18A1 (aldehyde dehydrogenase 18 family member A1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; ALDH18A1-related de Barsy syndrome | CAATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACA... | CAATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACA... |
Task1_train_14319 | This variant affects the gene ALDH18A1 (aldehyde dehydrogenase 18 family member A1) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; ALDH18A1-related disorder | CAATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACA... | CAATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACA... |
Task1_train_14320 | Given this variant in gene ALDH18A1 (aldehyde dehydrogenase 18 family member A1) on Chromosome 10, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hereditary spastic paraplegia 9A | CAATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACA... | CAATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACA... |
Task1_train_14321 | A variant has been detected on Chromosome 10 in ALDH18A1 (aldehyde dehydrogenase 18 family member A1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Cutis laxa, autosomal dominant 3 | CAATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACA... | CAATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACA... |
Task1_train_14322 | Consider this mutation in ALDH18A1 (aldehyde dehydrogenase 18 family member A1) on Chromosome 10. Is this a benign change or a disease-causing variant? | Pathogenic; de Barsy syndrome | CAATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACA... | CAATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACA... |
Task1_train_14323 | Located on Chromosome 10, this mutation impacts ALDH18A1 (aldehyde dehydrogenase 18 family member A1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Autosomal dominant spastic paraplegia type 9 | CAATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACA... | CAATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACA... |
Task1_train_14324 | Given a variant located on Chromosome 10 and affecting ALDH18A1 (aldehyde dehydrogenase 18 family member A1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; ALDH18A1-related de Barsy syndrome | AATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAG... | AATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAG... |
Task1_train_14325 | Gene ALDH18A1 (aldehyde dehydrogenase 18 family member A1) on Chromosome 10 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hereditary spastic paraplegia 9A | AATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAG... | AATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAG... |
Task1_train_14326 | This sequence change occurs on Chromosome 10, altering ALDH18A1 (aldehyde dehydrogenase 18 family member A1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Autosomal recessive complex spastic paraplegia type 9B | AATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAG... | AATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAG... |
Task1_train_14327 | This genomic variant is located on Chromosome 10, within the ALDH18A1 (aldehyde dehydrogenase 18 family member A1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Cutis laxa, autosomal dominant 3 | AATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAG... | AATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAG... |
Task1_train_14328 | This gene mutation involves ALDH18A1 (aldehyde dehydrogenase 18 family member A1) on Chromosome 10. Is it associated with any clinical condition, or is it benign? | Pathogenic; Cutis laxa, autosomal dominant 3 | AATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAG... | AATTAATATAAACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAG... |
Task1_train_14329 | The gene ALDH18A1 (aldehyde dehydrogenase 18 family member A1), on Chromosome 10, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; ALDH18A1-related de Barsy syndrome | ACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAGGAAAAGGTACA... | ACCCGTGTGTAGGAGAGACAAGCAGGAGATCTAAAGGTCCAGGAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAGGAAAAGGTACA... |
Task1_train_14330 | A mutation found in ALDH18A1 (aldehyde dehydrogenase 18 family member A1) on Chromosome 10 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Autosomal dominant spastic paraplegia type 9 | GAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAGGAAAAGGTACAAAGGGCAAATATTTTCTGTAGATATGATGGCCTTGGGGGAAG... | GAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAGGAAAAGGTACAAAGGGCAAATATTTTCTGTAGATATGATGGCCTTGGGGGAAG... |
Task1_train_14331 | A variant was discovered on Chromosome 10, affecting ALDH18A1 (aldehyde dehydrogenase 18 family member A1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; de Barsy syndrome | GAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAGGAAAAGGTACAAAGGGCAAATATTTTCTGTAGATATGATGGCCTTGGGGGAAG... | GAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAGGAAAAGGTACAAAGGGCAAATATTTTCTGTAGATATGATGGCCTTGGGGGAAG... |
Task1_train_14332 | Gene ALDH18A1 (aldehyde dehydrogenase 18 family member A1), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Cutis laxa, autosomal dominant 3 | GAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAGGAAAAGGTACAAAGGGCAAATATTTTCTGTAGATATGATGGCCTTGGGGGAAG... | GAAAAATACCTGTCACCAAAATAGCTTCACAAACATGGCCTGGGGATCTCAGCATGAAGGTAGGAGATAAAGAGTCCCAAGAGGGAAAAGTACGTGTTTAGACAAGCGCAATCTGTTGAGGGAAAATCAGTTTCCCTTCTATGAAGAAAAAACAAGCTGTTTTAAGTGTTTAAGTCTTTAACCTGGCAAACCACCTACTGGAAATTTTCAAAAGCCACTGACAATGGTCTTCTATATAGGATTACTGAAGAAAATAAGGAACCACAGGAAAAGGTACAAAGGGCAAATATTTTCTGTAGATATGATGGCCTTGGGGGAAG... |
Task1_train_14333 | This alteration occurs within gene TCTN3 (tectonic family member 3) located on Chromosome 10. Is it associated with a disease or is it a benign variant? | Pathogenic; Joubert syndrome 18 | ATCAGTCAGAGCCAAGAGTGGCTTCCCAACTATATAGCCAGGATTCCCACTTCTAGGACTGGTGAGAGAAGCAGCTGTGCTCTGTTGAAAAGCCTGCAGAAAGAGGGAAGAGAAGTCAATTATGGAGATAAGCATACTTTCCCACCTCCCACTGCTTGGCTTCACCGTACCCTTCCTTAAGGCAAGGAAATGCAATAAGTGAGCTACACTGAACAATCTGGCTTCTTTCCACAGTGTAGCATTTTGCTTCTTTCACTTTTTTAAATTTACTAAAATAAATCCTTCATGATCTGAATATTGAAATTCATAATACGCTACTT... | ATCAGTCAGAGCCAAGAGTGGCTTCCCAACTATATAGCCAGGATTCCCACTTCTAGGACTGGTGAGAGAAGCAGCTGTGCTCTGTTGAAAAGCCTGCAGAAAGAGGGAAGAGAAGTCAATTATGGAGATAAGCATACTTTCCCACCTCCCACTGCTTGGCTTCACCGTACCCTTCCTTAAGGCAAGGAAATGCAATAAGTGAGCTACACTGAACAATCTGGCTTCTTTCCACAGTGTAGCATTTTGCTTCTTTCACTTTTTTAAATTTACTAAAATAAATCCTTCATGATCTGAATATTGAAATTCATAATACGCTACTT... |
Task1_train_14334 | The gene LOC130004408, TCTN3 (ATAC-STARR-seq lymphoblastoid active region 3801| tectonic family member 3) on Chromosome 10 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; TCTN3-related disorder | TGATATTATTTCTCACTTTACAGTTGAAGAAACGAGCCTGGAAATGCTAAGGGATTTGCCCAAGTCTGTATAGCTGGTAAGGAAATGGCAGGACTGAGATCCTAATCTAATGCTCCTCCTACACTGTTGCCTCATGAAATGAAAATAAGGTTGGCATAGACTCATTTGTCAAAGATGTTCATTCAAACATTATTTGGTGCTTACTATGTGTTAGGCACTGGGGATTCAGTTAGTACCCTCATGGAGATTGTAGTAAGTGGGGAATATAGTCTATCTGTGATTATCTGAGTTAAGAGGAATGATTAAAATGATTGAAATTA... | TGATATTATTTCTCACTTTACAGTTGAAGAAACGAGCCTGGAAATGCTAAGGGATTTGCCCAAGTCTGTATAGCTGGTAAGGAAATGGCAGGACTGAGATCCTAATCTAATGCTCCTCCTACACTGTTGCCTCATGAAATGAAAATAAGGTTGGCATAGACTCATTTGTCAAAGATGTTCATTCAAACATTATTTGGTGCTTACTATGTGTTAGGCACTGGGGATTCAGTTAGTACCCTCATGGAGATTGTAGTAAGTGGGGAATATAGTCTATCTGTGATTATCTGAGTTAAGAGGAATGATTAAAATGATTGAAATTA... |
Task1_train_14335 | Gene LOC130004408, TCTN3 (ATAC-STARR-seq lymphoblastoid active region 3801| tectonic family member 3), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Joubert syndrome and related disorders | TGATATTATTTCTCACTTTACAGTTGAAGAAACGAGCCTGGAAATGCTAAGGGATTTGCCCAAGTCTGTATAGCTGGTAAGGAAATGGCAGGACTGAGATCCTAATCTAATGCTCCTCCTACACTGTTGCCTCATGAAATGAAAATAAGGTTGGCATAGACTCATTTGTCAAAGATGTTCATTCAAACATTATTTGGTGCTTACTATGTGTTAGGCACTGGGGATTCAGTTAGTACCCTCATGGAGATTGTAGTAAGTGGGGAATATAGTCTATCTGTGATTATCTGAGTTAAGAGGAATGATTAAAATGATTGAAATTA... | TGATATTATTTCTCACTTTACAGTTGAAGAAACGAGCCTGGAAATGCTAAGGGATTTGCCCAAGTCTGTATAGCTGGTAAGGAAATGGCAGGACTGAGATCCTAATCTAATGCTCCTCCTACACTGTTGCCTCATGAAATGAAAATAAGGTTGGCATAGACTCATTTGTCAAAGATGTTCATTCAAACATTATTTGGTGCTTACTATGTGTTAGGCACTGGGGATTCAGTTAGTACCCTCATGGAGATTGTAGTAAGTGGGGAATATAGTCTATCTGTGATTATCTGAGTTAAGAGGAATGATTAAAATGATTGAAATTA... |
Task1_train_14336 | A variant was discovered in gene LOC130004408, TCTN3 (ATAC-STARR-seq lymphoblastoid active region 3801| tectonic family member 3), Chromosome 10. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Joubert syndrome 18 | TGATATTATTTCTCACTTTACAGTTGAAGAAACGAGCCTGGAAATGCTAAGGGATTTGCCCAAGTCTGTATAGCTGGTAAGGAAATGGCAGGACTGAGATCCTAATCTAATGCTCCTCCTACACTGTTGCCTCATGAAATGAAAATAAGGTTGGCATAGACTCATTTGTCAAAGATGTTCATTCAAACATTATTTGGTGCTTACTATGTGTTAGGCACTGGGGATTCAGTTAGTACCCTCATGGAGATTGTAGTAAGTGGGGAATATAGTCTATCTGTGATTATCTGAGTTAAGAGGAATGATTAAAATGATTGAAATTA... | TGATATTATTTCTCACTTTACAGTTGAAGAAACGAGCCTGGAAATGCTAAGGGATTTGCCCAAGTCTGTATAGCTGGTAAGGAAATGGCAGGACTGAGATCCTAATCTAATGCTCCTCCTACACTGTTGCCTCATGAAATGAAAATAAGGTTGGCATAGACTCATTTGTCAAAGATGTTCATTCAAACATTATTTGGTGCTTACTATGTGTTAGGCACTGGGGATTCAGTTAGTACCCTCATGGAGATTGTAGTAAGTGGGGAATATAGTCTATCTGTGATTATCTGAGTTAAGAGGAATGATTAAAATGATTGAAATTA... |
Task1_train_14337 | This mutation is located in gene LOC130004408, TCTN3 (ATAC-STARR-seq lymphoblastoid active region 3801| tectonic family member 3) on Chromosome 10. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Orofacial-digital syndrome IV | TGATATTATTTCTCACTTTACAGTTGAAGAAACGAGCCTGGAAATGCTAAGGGATTTGCCCAAGTCTGTATAGCTGGTAAGGAAATGGCAGGACTGAGATCCTAATCTAATGCTCCTCCTACACTGTTGCCTCATGAAATGAAAATAAGGTTGGCATAGACTCATTTGTCAAAGATGTTCATTCAAACATTATTTGGTGCTTACTATGTGTTAGGCACTGGGGATTCAGTTAGTACCCTCATGGAGATTGTAGTAAGTGGGGAATATAGTCTATCTGTGATTATCTGAGTTAAGAGGAATGATTAAAATGATTGAAATTA... | TGATATTATTTCTCACTTTACAGTTGAAGAAACGAGCCTGGAAATGCTAAGGGATTTGCCCAAGTCTGTATAGCTGGTAAGGAAATGGCAGGACTGAGATCCTAATCTAATGCTCCTCCTACACTGTTGCCTCATGAAATGAAAATAAGGTTGGCATAGACTCATTTGTCAAAGATGTTCATTCAAACATTATTTGGTGCTTACTATGTGTTAGGCACTGGGGATTCAGTTAGTACCCTCATGGAGATTGTAGTAAGTGGGGAATATAGTCTATCTGTGATTATCTGAGTTAAGAGGAATGATTAAAATGATTGAAATTA... |
Task1_train_14338 | This variant lies on Chromosome 10 and affects the gene LOC130004408, TCTN3 (ATAC-STARR-seq lymphoblastoid active region 3801| tectonic family member 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Orofacial-digital syndrome IV | TGATATTATTTCTCACTTTACAGTTGAAGAAACGAGCCTGGAAATGCTAAGGGATTTGCCCAAGTCTGTATAGCTGGTAAGGAAATGGCAGGACTGAGATCCTAATCTAATGCTCCTCCTACACTGTTGCCTCATGAAATGAAAATAAGGTTGGCATAGACTCATTTGTCAAAGATGTTCATTCAAACATTATTTGGTGCTTACTATGTGTTAGGCACTGGGGATTCAGTTAGTACCCTCATGGAGATTGTAGTAAGTGGGGAATATAGTCTATCTGTGATTATCTGAGTTAAGAGGAATGATTAAAATGATTGAAATTA... | TGATATTATTTCTCACTTTACAGTTGAAGAAACGAGCCTGGAAATGCTAAGGGATTTGCCCAAGTCTGTATAGCTGGTAAGGAAATGGCAGGACTGAGATCCTAATCTAATGCTCCTCCTACACTGTTGCCTCATGAAATGAAAATAAGGTTGGCATAGACTCATTTGTCAAAGATGTTCATTCAAACATTATTTGGTGCTTACTATGTGTTAGGCACTGGGGATTCAGTTAGTACCCTCATGGAGATTGTAGTAAGTGGGGAATATAGTCTATCTGTGATTATCTGAGTTAAGAGGAATGATTAAAATGATTGAAATTA... |
Task1_train_14339 | Gene LOC130004408, TCTN3 (ATAC-STARR-seq lymphoblastoid active region 3801| tectonic family member 3) on Chromosome 10 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Joubert syndrome 18 | TGATATTATTTCTCACTTTACAGTTGAAGAAACGAGCCTGGAAATGCTAAGGGATTTGCCCAAGTCTGTATAGCTGGTAAGGAAATGGCAGGACTGAGATCCTAATCTAATGCTCCTCCTACACTGTTGCCTCATGAAATGAAAATAAGGTTGGCATAGACTCATTTGTCAAAGATGTTCATTCAAACATTATTTGGTGCTTACTATGTGTTAGGCACTGGGGATTCAGTTAGTACCCTCATGGAGATTGTAGTAAGTGGGGAATATAGTCTATCTGTGATTATCTGAGTTAAGAGGAATGATTAAAATGATTGAAATTA... | TGATATTATTTCTCACTTTACAGTTGAAGAAACGAGCCTGGAAATGCTAAGGGATTTGCCCAAGTCTGTATAGCTGGTAAGGAAATGGCAGGACTGAGATCCTAATCTAATGCTCCTCCTACACTGTTGCCTCATGAAATGAAAATAAGGTTGGCATAGACTCATTTGTCAAAGATGTTCATTCAAACATTATTTGGTGCTTACTATGTGTTAGGCACTGGGGATTCAGTTAGTACCCTCATGGAGATTGTAGTAAGTGGGGAATATAGTCTATCTGTGATTATCTGAGTTAAGAGGAATGATTAAAATGATTGAAATTA... |
Task1_train_14340 | This sequence variant lies in ENTPD1, ENTPD1-AS1 (ectonucleoside triphosphate diphosphohydrolase 1| ENTPD1 antisense RNA 1) on Chromosome 10. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hereditary spastic paraplegia 64 | GGTAAGTAGTGTAAAATAATAATGATAATAATAGTAGCAGCTCGTATTTATTGAGCCCGTCCTATGTTCTTAGCACTACGCTAAGCACTTAATTGCACTGTCATAACAACTCTATGAAATTAACAATTATTAACAAGATAAGGAAGCTGTGGCTTACAAATGTTAAGTAACTCACCCAAGGTCACACACCTGGGAAGTGGTGGAGCCAGGATTCTGAGTGGGATTCTGAAAAGGAAGGGTCCAGGTCACAAAGTGCCCTATGGGGCCATGCTAGGAAGTTTGGAGTTTATCTTAGAGATAGTAGGAAGCCATTAAAGGAT... | GGTAAGTAGTGTAAAATAATAATGATAATAATAGTAGCAGCTCGTATTTATTGAGCCCGTCCTATGTTCTTAGCACTACGCTAAGCACTTAATTGCACTGTCATAACAACTCTATGAAATTAACAATTATTAACAAGATAAGGAAGCTGTGGCTTACAAATGTTAAGTAACTCACCCAAGGTCACACACCTGGGAAGTGGTGGAGCCAGGATTCTGAGTGGGATTCTGAAAAGGAAGGGTCCAGGTCACAAAGTGCCCTATGGGGCCATGCTAGGAAGTTTGGAGTTTATCTTAGAGATAGTAGGAAGCCATTAAAGGAT... |
Task1_train_14341 | Here is a genetic alteration in EXOSC1 (exosome component 1) on Chromosome 10. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Pontocerebellar hypoplasia, type 1F | TTTTGGTGATTCTCTCAGAATTTCTTGGTATACAACTATATTGCCTATAATCATTGACAATTTTACTTTTTTTGTTTTTTTTTGAAATGGAGTTTCACTCTTGTTGCCTAGGATGGAGTGCAAGGGTGCCATCTTGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGAAGCCTGTCACCATGCTCGGGTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTG... | TTTTGGTGATTCTCTCAGAATTTCTTGGTATACAACTATATTGCCTATAATCATTGACAATTTTACTTTTTTTGTTTTTTTTTGAAATGGAGTTTCACTCTTGTTGCCTAGGATGGAGTGCAAGGGTGCCATCTTGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGAAGCCTGTCACCATGCTCGGGTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTG... |
Task1_train_14342 | The variant affects gene HOGA1 (4-hydroxy-2-oxoglutarate aldolase 1), which is on Chromosome 10. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | CAAACTGCTGCTCCTGCATGGGGCTGACATGATGACCAAGAACCTGGTAAGCTCATTCCCTCCTTGATTCAGTCACTGGCGTGAGCACTCATACAGTGGAGGTGCTGTCCTGGTCCCTGGAGCAGCCCCCGCCTAGGGACATGTATCATTGGCTCTGGCCAGCACCATAGTACATAAACTTGTCCTCTTCCAGAGCACCATTCCAACTGTCCGCCCCATTCTCTATGTGTGTCTATGTCCAGAGTGCAAGTGCAGAGAGACAGCAGGAGGGGCAGCAAGAGGACTTCCCAAAGACCCCCAAGTAGGCCAGAGGGGGTCCT... | CAAACTGCTGCTCCTGCATGGGGCTGACATGATGACCAAGAACCTGGTAAGCTCATTCCCTCCTTGATTCAGTCACTGGCGTGAGCACTCATACAGTGGAGGTGCTGTCCTGGTCCCTGGAGCAGCCCCCGCCTAGGGACATGTATCATTGGCTCTGGCCAGCACCATAGTACATAAACTTGTCCTCTTCCAGAGCACCATTCCAACTGTCCGCCCCATTCTCTATGTGTGTCTATGTCCAGAGTGCAAGTGCAGAGAGACAGCAGGAGGGGCAGCAAGAGGACTTCCCAAAGACCCCCAAGTAGGCCAGAGGGGGTCCT... |
Task1_train_14343 | Given a variant located on Chromosome 10 and affecting HOGA1 (4-hydroxy-2-oxoglutarate aldolase 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | AAACTGCTGCTCCTGCATGGGGCTGACATGATGACCAAGAACCTGGTAAGCTCATTCCCTCCTTGATTCAGTCACTGGCGTGAGCACTCATACAGTGGAGGTGCTGTCCTGGTCCCTGGAGCAGCCCCCGCCTAGGGACATGTATCATTGGCTCTGGCCAGCACCATAGTACATAAACTTGTCCTCTTCCAGAGCACCATTCCAACTGTCCGCCCCATTCTCTATGTGTGTCTATGTCCAGAGTGCAAGTGCAGAGAGACAGCAGGAGGGGCAGCAAGAGGACTTCCCAAAGACCCCCAAGTAGGCCAGAGGGGGTCCTC... | AAACTGCTGCTCCTGCATGGGGCTGACATGATGACCAAGAACCTGGTAAGCTCATTCCCTCCTTGATTCAGTCACTGGCGTGAGCACTCATACAGTGGAGGTGCTGTCCTGGTCCCTGGAGCAGCCCCCGCCTAGGGACATGTATCATTGGCTCTGGCCAGCACCATAGTACATAAACTTGTCCTCTTCCAGAGCACCATTCCAACTGTCCGCCCCATTCTCTATGTGTGTCTATGTCCAGAGTGCAAGTGCAGAGAGACAGCAGGAGGGGCAGCAAGAGGACTTCCCAAAGACCCCCAAGTAGGCCAGAGGGGGTCCTC... |
Task1_train_14344 | Consider a variant on Chromosome 10 in gene HOGA1 (4-hydroxy-2-oxoglutarate aldolase 1). Determine its clinical classification and disease relevance. | Pathogenic; Primary hyperoxaluria type 3 | CTAGGGACATGTATCATTGGCTCTGGCCAGCACCATAGTACATAAACTTGTCCTCTTCCAGAGCACCATTCCAACTGTCCGCCCCATTCTCTATGTGTGTCTATGTCCAGAGTGCAAGTGCAGAGAGACAGCAGGAGGGGCAGCAAGAGGACTTCCCAAAGACCCCCAAGTAGGCCAGAGGGGGTCCTCAAGTACTGGCCCAAGGAGGCCAGAATCATGAAAGGCCAGAGCTGGAAGGGACCGAGCACTCAGCTGGCATGACAGTTCCTAGCACCCCATGTCAGCTCCTGTGGTCTTTGAGTTTTCTTAGGATCTAGGCA... | CTAGGGACATGTATCATTGGCTCTGGCCAGCACCATAGTACATAAACTTGTCCTCTTCCAGAGCACCATTCCAACTGTCCGCCCCATTCTCTATGTGTGTCTATGTCCAGAGTGCAAGTGCAGAGAGACAGCAGGAGGGGCAGCAAGAGGACTTCCCAAAGACCCCCAAGTAGGCCAGAGGGGGTCCTCAAGTACTGGCCCAAGGAGGCCAGAATCATGAAAGGCCAGAGCTGGAAGGGACCGAGCACTCAGCTGGCATGACAGTTCCTAGCACCCCATGTCAGCTCCTGTGGTCTTTGAGTTTTCTTAGGATCTAGGCA... |
Task1_train_14345 | A genomic change on Chromosome 10 affects HOGA1 (4-hydroxy-2-oxoglutarate aldolase 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | TGTCCGCCCCATTCTCTATGTGTGTCTATGTCCAGAGTGCAAGTGCAGAGAGACAGCAGGAGGGGCAGCAAGAGGACTTCCCAAAGACCCCCAAGTAGGCCAGAGGGGGTCCTCAAGTACTGGCCCAAGGAGGCCAGAATCATGAAAGGCCAGAGCTGGAAGGGACCGAGCACTCAGCTGGCATGACAGTTCCTAGCACCCCATGTCAGCTCCTGTGGTCTTTGAGTTTTCTTAGGATCTAGGCAGGAAGTCCTTGGAAGGGGAAGGTGCCCAGGGAACACCTTGGACTAGGGAACACTTAGTCCAAGTTCTTCTTTGGG... | TGTCCGCCCCATTCTCTATGTGTGTCTATGTCCAGAGTGCAAGTGCAGAGAGACAGCAGGAGGGGCAGCAAGAGGACTTCCCAAAGACCCCCAAGTAGGCCAGAGGGGGTCCTCAAGTACTGGCCCAAGGAGGCCAGAATCATGAAAGGCCAGAGCTGGAAGGGACCGAGCACTCAGCTGGCATGACAGTTCCTAGCACCCCATGTCAGCTCCTGTGGTCTTTGAGTTTTCTTAGGATCTAGGCAGGAAGTCCTTGGAAGGGGAAGGTGCCCAGGGAACACCTTGGACTAGGGAACACTTAGTCCAAGTTCTTCTTTGGG... |
Task1_train_14346 | This mutation is located in gene HOGA1 (4-hydroxy-2-oxoglutarate aldolase 1) on Chromosome 10. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Primary hyperoxaluria type 3 | CTGTAATCCCAGCACTTCTGGAGGCTAAGGTGGGAGGATCACCTGGGCCCAGGAATTCGAGCCAGCCTGGGCAAAATAGTGAAACTCCATCTCTACAAAAAAAACTACACAAATTAGTTGGGCATGGTAGCTCATGCCTGTAATCCTAGCTGGCTAAGACAGGAGGATCACTTGAACCTGGGGGGCTAAGGCTGCCGTGAGCCGTGATTGTGACACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTCAAAGAAAAAGTAAATACATAAAAAATGTGTCACAGATGAAGGTGCACATAGCTATGACTCAGCAATTAAC... | CTGTAATCCCAGCACTTCTGGAGGCTAAGGTGGGAGGATCACCTGGGCCCAGGAATTCGAGCCAGCCTGGGCAAAATAGTGAAACTCCATCTCTACAAAAAAAACTACACAAATTAGTTGGGCATGGTAGCTCATGCCTGTAATCCTAGCTGGCTAAGACAGGAGGATCACTTGAACCTGGGGGGCTAAGGCTGCCGTGAGCCGTGATTGTGACACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTCAAAGAAAAAGTAAATACATAAAAAATGTGTCACAGATGAAGGTGCACATAGCTATGACTCAGCAATTAAC... |
Task1_train_14347 | Here’s a variant in HOGA1 (4-hydroxy-2-oxoglutarate aldolase 1) located on Chromosome 10. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | AAAATGTTTGTTTCAGCATTGTTTGCAATAGCAAATAGAAGAAAACATTCTTTTCTTCTTTTTTCTTTTTTGGTAGAGACAGGTAGGCCATTTTTTGGTAGAGACAGGCAGCCATGCTGCCCTGCCTGGTTTTGAACTCCTGGGCTCAAGCGATCCACCCACCTTGGCCTCCTAAAGTGCTGAAATTATAGGTGTGAGCCACCAGGCCCAGCCAAAAGAAGGAAACATTCTAAATGCTCTCAACAAGAGAATGACAAATAAATTGTGTTCTAACCTTACAACAGAATACTATACAGCAATTAAAATGAATGAATCAGGGC... | AAAATGTTTGTTTCAGCATTGTTTGCAATAGCAAATAGAAGAAAACATTCTTTTCTTCTTTTTTCTTTTTTGGTAGAGACAGGTAGGCCATTTTTTGGTAGAGACAGGCAGCCATGCTGCCCTGCCTGGTTTTGAACTCCTGGGCTCAAGCGATCCACCCACCTTGGCCTCCTAAAGTGCTGAAATTATAGGTGTGAGCCACCAGGCCCAGCCAAAAGAAGGAAACATTCTAAATGCTCTCAACAAGAGAATGACAAATAAATTGTGTTCTAACCTTACAACAGAATACTATACAGCAATTAAAATGAATGAATCAGGGC... |
Task1_train_14348 | Located on Chromosome 10, this mutation impacts HOGA1 (4-hydroxy-2-oxoglutarate aldolase 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Primary hyperoxaluria type 3 | GCTGGGGTCCTCTCCTCCTTTTCTGGGTCCTAGCACTTTTGCTCCTGAGGGCAGCTCTGAGATCTGTTTCCAACCTTGGCTTCTGTGTGGATTCTCTCTGTCGTGCGGGCTCTCTGGGACTTTCTTGAGGGCATCTCTTTGAGCACTGGGCTTTCATTCCACCACACTTACCCGGCCCTCATCCAGGATGAGGCTCTGGGCACAGCTCTCACACCACATTTGCTGTTGCAGGTGACCAGGATTGGGCTGATTGTTCACAAGACCAGGAAGCAGGATTTTCAGGTGTTGGCTGGATCGGCTGGCTTTCTGATGGCCAGCTA... | GCTGGGGTCCTCTCCTCCTTTTCTGGGTCCTAGCACTTTTGCTCCTGAGGGCAGCTCTGAGATCTGTTTCCAACCTTGGCTTCTGTGTGGATTCTCTCTGTCGTGCGGGCTCTCTGGGACTTTCTTGAGGGCATCTCTTTGAGCACTGGGCTTTCATTCCACCACACTTACCCGGCCCTCATCCAGGATGAGGCTCTGGGCACAGCTCTCACACCACATTTGCTGTTGCAGGTGACCAGGATTGGGCTGATTGTTCACAAGACCAGGAAGCAGGATTTTCAGGTGTTGGCTGGATCGGCTGGCTTTCTGATGGCCAGCTA... |
Task1_train_14349 | Here is a variant affecting HOGA1 (4-hydroxy-2-oxoglutarate aldolase 1) on Chromosome 10. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | GGTCCTCTCCTCCTTTTCTGGGTCCTAGCACTTTTGCTCCTGAGGGCAGCTCTGAGATCTGTTTCCAACCTTGGCTTCTGTGTGGATTCTCTCTGTCGTGCGGGCTCTCTGGGACTTTCTTGAGGGCATCTCTTTGAGCACTGGGCTTTCATTCCACCACACTTACCCGGCCCTCATCCAGGATGAGGCTCTGGGCACAGCTCTCACACCACATTTGCTGTTGCAGGTGACCAGGATTGGGCTGATTGTTCACAAGACCAGGAAGCAGGATTTTCAGGTGTTGGCTGGATCGGCTGGCTTTCTGATGGCCAGCTATGCCT... | GGTCCTCTCCTCCTTTTCTGGGTCCTAGCACTTTTGCTCCTGAGGGCAGCTCTGAGATCTGTTTCCAACCTTGGCTTCTGTGTGGATTCTCTCTGTCGTGCGGGCTCTCTGGGACTTTCTTGAGGGCATCTCTTTGAGCACTGGGCTTTCATTCCACCACACTTACCCGGCCCTCATCCAGGATGAGGCTCTGGGCACAGCTCTCACACCACATTTGCTGTTGCAGGTGACCAGGATTGGGCTGATTGTTCACAAGACCAGGAAGCAGGATTTTCAGGTGTTGGCTGGATCGGCTGGCTTTCTGATGGCCAGCTATGCCT... |
Task1_train_14350 | Here is a genetic alteration in HOGA1 (4-hydroxy-2-oxoglutarate aldolase 1) on Chromosome 10. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Primary hyperoxaluria type 3 | ATTCTGTGTCCTCTCCTGTGCCAGCTCTGGGCACATACCCAGGAATGCCTGGAACACCTTTCTGCTGCCTAGGCTGTAGGCTCAGACACCCCGAGAACAGCTTGATGTCACTCTATTGCCCATCCCTGGTCAAACACAATGTCCTTCCTCCACCTTCCCACCAGCCTGCCTCCTGCCCCTGGCTATATTTAGGACTTTCTACAGTCTTTGCCACCAACCCCTTCTTAGGGTTTGAAGAGGGGCCACATCAGATATCTTTGGAAACCCATGGCAGGAGTGAGCTTTTCTCTGGGCACCTCTTATTTCCATCCTGTATCCTG... | ATTCTGTGTCCTCTCCTGTGCCAGCTCTGGGCACATACCCAGGAATGCCTGGAACACCTTTCTGCTGCCTAGGCTGTAGGCTCAGACACCCCGAGAACAGCTTGATGTCACTCTATTGCCCATCCCTGGTCAAACACAATGTCCTTCCTCCACCTTCCCACCAGCCTGCCTCCTGCCCCTGGCTATATTTAGGACTTTCTACAGTCTTTGCCACCAACCCCTTCTTAGGGTTTGAAGAGGGGCCACATCAGATATCTTTGGAAACCCATGGCAGGAGTGAGCTTTTCTCTGGGCACCTCTTATTTCCATCCTGTATCCTG... |
Task1_train_14351 | Here is a variant affecting HOGA1 (4-hydroxy-2-oxoglutarate aldolase 1) on Chromosome 10. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Primary hyperoxaluria type 3 | ACCCAGGAATGCCTGGAACACCTTTCTGCTGCCTAGGCTGTAGGCTCAGACACCCCGAGAACAGCTTGATGTCACTCTATTGCCCATCCCTGGTCAAACACAATGTCCTTCCTCCACCTTCCCACCAGCCTGCCTCCTGCCCCTGGCTATATTTAGGACTTTCTACAGTCTTTGCCACCAACCCCTTCTTAGGGTTTGAAGAGGGGCCACATCAGATATCTTTGGAAACCCATGGCAGGAGTGAGCTTTTCTCTGGGCACCTCTTATTTCCATCCTGTATCCTGGGTCTTTCCCACCTACTCAGGCTTTGGGTAAAAAGG... | ACCCAGGAATGCCTGGAACACCTTTCTGCTGCCTAGGCTGTAGGCTCAGACACCCCGAGAACAGCTTGATGTCACTCTATTGCCCATCCCTGGTCAAACACAATGTCCTTCCTCCACCTTCCCACCAGCCTGCCTCCTGCCCCTGGCTATATTTAGGACTTTCTACAGTCTTTGCCACCAACCCCTTCTTAGGGTTTGAAGAGGGGCCACATCAGATATCTTTGGAAACCCATGGCAGGAGTGAGCTTTTCTCTGGGCACCTCTTATTTCCATCCTGTATCCTGGGTCTTTCCCACCTACTCAGGCTTTGGGTAAAAAGG... |
Task1_train_14352 | Consider this mutation in HOGA1 (4-hydroxy-2-oxoglutarate aldolase 1) on Chromosome 10. Is this a benign change or a disease-causing variant? | Pathogenic; Primary hyperoxaluria type 3 | CACAATGTCCTTCCTCCACCTTCCCACCAGCCTGCCTCCTGCCCCTGGCTATATTTAGGACTTTCTACAGTCTTTGCCACCAACCCCTTCTTAGGGTTTGAAGAGGGGCCACATCAGATATCTTTGGAAACCCATGGCAGGAGTGAGCTTTTCTCTGGGCACCTCTTATTTCCATCCTGTATCCTGGGTCTTTCCCACCTACTCAGGCTTTGGGTAAAAAGGCCAGGCTATTAGAACATCATGGGGGTGGCGAGGCCTGCAGGAGGGTGGCTTACCACCCATTCCGAGAAAAAAAATCCATGCTTGATAAAGCCTCCGGG... | CACAATGTCCTTCCTCCACCTTCCCACCAGCCTGCCTCCTGCCCCTGGCTATATTTAGGACTTTCTACAGTCTTTGCCACCAACCCCTTCTTAGGGTTTGAAGAGGGGCCACATCAGATATCTTTGGAAACCCATGGCAGGAGTGAGCTTTTCTCTGGGCACCTCTTATTTCCATCCTGTATCCTGGGTCTTTCCCACCTACTCAGGCTTTGGGTAAAAAGGCCAGGCTATTAGAACATCATGGGGGTGGCGAGGCCTGCAGGAGGGTGGCTTACCACCCATTCCGAGAAAAAAAATCCATGCTTGATAAAGCCTCCGGG... |
Task1_train_14353 | This gene mutation involves HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1) on Chromosome 10. Is it associated with any clinical condition, or is it benign? | Pathogenic; Hermansky-Pudlak syndrome 1 | CTCCTGAGGACATGTTTGGTAATGGTGGTCAGGGGGTAGAGGGGCATCTTCCTCCCCCCTCCCTTGCCCCCAATCCCCTCCTTGTTCTGTCCCCTGTATTCCTTCAGGCCTCAACCCGCCCCTCAGGAGTCAGCACACACAGTCCACGTTTGCCCATTCATTTATTCAACCGGCAAGCTCTTACTGAGCACCTGCTGTGTGCTGGGAATTGAGGTGGATTTCCTTCCTAATATAACGCACAAAAACCTACTGAACCCACCACATATCTGAAATATTATGTGTCTGTAATAATACTGTTACCTCTTATATTTCATTGCAAA... | CTCCTGAGGACATGTTTGGTAATGGTGGTCAGGGGGTAGAGGGGCATCTTCCTCCCCCCTCCCTTGCCCCCAATCCCCTCCTTGTTCTGTCCCCTGTATTCCTTCAGGCCTCAACCCGCCCCTCAGGAGTCAGCACACACAGTCCACGTTTGCCCATTCATTTATTCAACCGGCAAGCTCTTACTGAGCACCTGCTGTGTGCTGGGAATTGAGGTGGATTTCCTTCCTAATATAACGCACAAAAACCTACTGAACCCACCACATATCTGAAATATTATGTGTCTGTAATAATACTGTTACCTCTTATATTTCATTGCAAA... |
Task1_train_14354 | Consider this mutation in HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1) on Chromosome 10. Is this a benign change or a disease-causing variant? | Pathogenic; Hermansky-Pudlak syndrome 1 | AGGGTTGGGTTAAAAGCAGCCACATAATAAATTCCTTTCAAATCCTAGTCCCCAGTAGGTTTCTCCTCCTGAAACCCTGGCCTTCTTTCTTCCATCAGATGATGTGGAGGGACCACAGGACCCTTTTTTTTTTTTTTTTTTACCTAAGAACTTCAGAAATAAATGTAATGTTTATTCATAGTGACCACAACAGTCTGGATTTTGGTTTATCTACTTCTCTAAGCAAGGTTGTCCATTTTTTGTTAACATTTTGAATATTTGTAGTTTTGTTTTGTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGT... | AGGGTTGGGTTAAAAGCAGCCACATAATAAATTCCTTTCAAATCCTAGTCCCCAGTAGGTTTCTCCTCCTGAAACCCTGGCCTTCTTTCTTCCATCAGATGATGTGGAGGGACCACAGGACCCTTTTTTTTTTTTTTTTTTACCTAAGAACTTCAGAAATAAATGTAATGTTTATTCATAGTGACCACAACAGTCTGGATTTTGGTTTATCTACTTCTCTAAGCAAGGTTGTCCATTTTTTGTTAACATTTTGAATATTTGTAGTTTTGTTTTGTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGT... |
Task1_train_14355 | The gene HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1), on Chromosome 10, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hermansky-Pudlak syndrome | AGGGTTGGGTTAAAAGCAGCCACATAATAAATTCCTTTCAAATCCTAGTCCCCAGTAGGTTTCTCCTCCTGAAACCCTGGCCTTCTTTCTTCCATCAGATGATGTGGAGGGACCACAGGACCCTTTTTTTTTTTTTTTTTTACCTAAGAACTTCAGAAATAAATGTAATGTTTATTCATAGTGACCACAACAGTCTGGATTTTGGTTTATCTACTTCTCTAAGCAAGGTTGTCCATTTTTTGTTAACATTTTGAATATTTGTAGTTTTGTTTTGTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGT... | AGGGTTGGGTTAAAAGCAGCCACATAATAAATTCCTTTCAAATCCTAGTCCCCAGTAGGTTTCTCCTCCTGAAACCCTGGCCTTCTTTCTTCCATCAGATGATGTGGAGGGACCACAGGACCCTTTTTTTTTTTTTTTTTTACCTAAGAACTTCAGAAATAAATGTAATGTTTATTCATAGTGACCACAACAGTCTGGATTTTGGTTTATCTACTTCTCTAAGCAAGGTTGTCCATTTTTTGTTAACATTTTGAATATTTGTAGTTTTGTTTTGTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGT... |
Task1_train_14356 | The following genetic variant occurs in HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hermansky-Pudlak syndrome 1 | ATCTGGTATATATTTCACATGCATAGCATAACTCAATTTGCACTAGTTATATTTCAAATGTTCAACAGCCACATGCAGCTAATGACTATCATATTGGACAGATCTAAATATAGAGTTTTCCTGAAACTTAAAGAAGTTTCATGTGACTAGCACTCAGTAAGCGTGGACAAGAGAGGCATAAGATGAAGCTAGAGTGAAATAGGCAGCGATAGATCACACAGGGCCTGGTAGGCTTGGGAAGAGTTTGGATTTTATGCTAATGGCATTAGGTCACCTCCTAAAAGAAGTCTTTCCTAATGTCCCAGAAAGAGTTTACCACT... | ATCTGGTATATATTTCACATGCATAGCATAACTCAATTTGCACTAGTTATATTTCAAATGTTCAACAGCCACATGCAGCTAATGACTATCATATTGGACAGATCTAAATATAGAGTTTTCCTGAAACTTAAAGAAGTTTCATGTGACTAGCACTCAGTAAGCGTGGACAAGAGAGGCATAAGATGAAGCTAGAGTGAAATAGGCAGCGATAGATCACACAGGGCCTGGTAGGCTTGGGAAGAGTTTGGATTTTATGCTAATGGCATTAGGTCACCTCCTAAAAGAAGTCTTTCCTAATGTCCCAGAAAGAGTTTACCACT... |
Task1_train_14357 | Gene HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1) on Chromosome 10 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; not provided | ATAGCATAACTCAATTTGCACTAGTTATATTTCAAATGTTCAACAGCCACATGCAGCTAATGACTATCATATTGGACAGATCTAAATATAGAGTTTTCCTGAAACTTAAAGAAGTTTCATGTGACTAGCACTCAGTAAGCGTGGACAAGAGAGGCATAAGATGAAGCTAGAGTGAAATAGGCAGCGATAGATCACACAGGGCCTGGTAGGCTTGGGAAGAGTTTGGATTTTATGCTAATGGCATTAGGTCACCTCCTAAAAGAAGTCTTTCCTAATGTCCCAGAAAGAGTTTACCACTCCATCTCTTGTGCCACCATAGC... | ATAGCATAACTCAATTTGCACTAGTTATATTTCAAATGTTCAACAGCCACATGCAGCTAATGACTATCATATTGGACAGATCTAAATATAGAGTTTTCCTGAAACTTAAAGAAGTTTCATGTGACTAGCACTCAGTAAGCGTGGACAAGAGAGGCATAAGATGAAGCTAGAGTGAAATAGGCAGCGATAGATCACACAGGGCCTGGTAGGCTTGGGAAGAGTTTGGATTTTATGCTAATGGCATTAGGTCACCTCCTAAAAGAAGTCTTTCCTAATGTCCCAGAAAGAGTTTACCACTCCATCTCTTGTGCCACCATAGC... |
Task1_train_14358 | This variant affects the gene HPSE2 (heparanase 2 (inactive)) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Urofacial syndrome type 1 | TTCTTCTTTCTCTTATTTCCTACCCCCCGCCCCGCCCCCATCTTGGTACTTCACTTTCCTGCCCTCTCAGAGCTGAAGCCTCAGTGGGAGGTGCCTGGTCCCAGAGAAACGGGTCCCTTCTGGGCAGCCTTGCAGGGCGGTCTCAGGGTCTGCCCCTCTCTCTCCAGTTGCTTCCATGCTGAGCACAGCCACTGACCTGGTGCAGCCTGGTCCTCGGGCTCTCCCTTTCTTGCTCGCTGTAGTACATCTGCTGTATGCTGTTCCTCCTGTGCTTAATGATAAGCATGTCAAAACCCGGTCCCCTCGCTTCCTGGAATTAG... | TTCTTCTTTCTCTTATTTCCTACCCCCCGCCCCGCCCCCATCTTGGTACTTCACTTTCCTGCCCTCTCAGAGCTGAAGCCTCAGTGGGAGGTGCCTGGTCCCAGAGAAACGGGTCCCTTCTGGGCAGCCTTGCAGGGCGGTCTCAGGGTCTGCCCCTCTCTCTCCAGTTGCTTCCATGCTGAGCACAGCCACTGACCTGGTGCAGCCTGGTCCTCGGGCTCTCCCTTTCTTGCTCGCTGTAGTACATCTGCTGTATGCTGTTCCTCCTGTGCTTAATGATAAGCATGTCAAAACCCGGTCCCCTCGCTTCCTGGAATTAG... |
Task1_train_14359 | An alteration has been detected in COX15 (cytochrome c oxidase assembly homolog COX15) on Chromosome 10. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Inborn genetic diseases | GCGCGCCACTATTGCCCAGCTAATTTTTTAACTTTTAGTAGAGATGGGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAATGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCTTAATTAGTTAAAATTTAAATAGCCATATGTAGCTAGTAGCTACTGTGTTGGACAGCATAGCACTATATGGCTCATTGGGTAGCATCTCAAATCCTTTTTGTAATTAGGTGAATCTAAACTAACAGAGAAAAACAATTGATAAAGTCATCAGTAACCTTTAAG... | GCGCGCCACTATTGCCCAGCTAATTTTTTAACTTTTAGTAGAGATGGGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAATGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCTTAATTAGTTAAAATTTAAATAGCCATATGTAGCTAGTAGCTACTGTGTTGGACAGCATAGCACTATATGGCTCATTGGGTAGCATCTCAAATCCTTTTTGTAATTAGGTGAATCTAAACTAACAGAGAAAAACAATTGATAAAGTCATCAGTAACCTTTAAG... |
Task1_train_14360 | This is a variant in COX15 (cytochrome c oxidase assembly homolog COX15), located on Chromosome 10. Is this mutation a likely cause of disease or not? | Pathogenic; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | GCGCGCCACTATTGCCCAGCTAATTTTTTAACTTTTAGTAGAGATGGGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAATGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCTTAATTAGTTAAAATTTAAATAGCCATATGTAGCTAGTAGCTACTGTGTTGGACAGCATAGCACTATATGGCTCATTGGGTAGCATCTCAAATCCTTTTTGTAATTAGGTGAATCTAAACTAACAGAGAAAAACAATTGATAAAGTCATCAGTAACCTTTAAG... | GCGCGCCACTATTGCCCAGCTAATTTTTTAACTTTTAGTAGAGATGGGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAATGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCTTAATTAGTTAAAATTTAAATAGCCATATGTAGCTAGTAGCTACTGTGTTGGACAGCATAGCACTATATGGCTCATTGGGTAGCATCTCAAATCCTTTTTGTAATTAGGTGAATCTAAACTAACAGAGAAAAACAATTGATAAAGTCATCAGTAACCTTTAAG... |
Task1_train_14361 | Given this context: Chromosome 10, gene ABCC2 (ATP binding cassette subfamily C member 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | GCTGCATAGTATTCCATGGTATATATGTACCACATTTTCTTTATCCAGTCTATCATTGATGATGCCCGGCTAATTTTTGTACTTTTAGTAGAGGCGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCATCTGCCTCAGTCTCCCAAAGTGCTGGGATTATATGGGTAAGCCACTGGGACTGGCTAATTATGCTTTTTTTTTTAACGGAGGAAAATGTTTTCATGGCATCTTCATCAGTACTCTGAACTTTTCCAGAGAGCTAAATTTAGGGAAAATTATAGTTATTTTTGAATTGTTA... | GCTGCATAGTATTCCATGGTATATATGTACCACATTTTCTTTATCCAGTCTATCATTGATGATGCCCGGCTAATTTTTGTACTTTTAGTAGAGGCGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCATCTGCCTCAGTCTCCCAAAGTGCTGGGATTATATGGGTAAGCCACTGGGACTGGCTAATTATGCTTTTTTTTTTAACGGAGGAAAATGTTTTCATGGCATCTTCATCAGTACTCTGAACTTTTCCAGAGAGCTAAATTTAGGGAAAATTATAGTTATTTTTGAATTGTTA... |
Task1_train_14362 | The gene ABCC2 (ATP binding cassette subfamily C member 2) on Chromosome 10 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Dubin-Johnson syndrome | GTGCTGGGATTACAGGTGTGACCACCACGCCAGGCCTAAATGAAGAAATTATGGAAATGAAATTGGTTATTGGGGCAAGCAATGCAGCCTATTGCAAATGAACACAATGAAATGATTACATGAAGGAGTACTGGGAACACACAGAATCCAACAGATTCCTTGCTAGAACTAGGAAGATGTAAACTATCTTAGGAAGACCTCAGTGATGGTGTATCTCTCCTAATCGTTTTCCTAGGATATTTCCACAGTGGATGACACCCTGCCTCAGTCCTTGCGCAGCTGGATTACATGCTTCCTGGGGATAATCAGCACCCTTGTCA... | GTGCTGGGATTACAGGTGTGACCACCACGCCAGGCCTAAATGAAGAAATTATGGAAATGAAATTGGTTATTGGGGCAAGCAATGCAGCCTATTGCAAATGAACACAATGAAATGATTACATGAAGGAGTACTGGGAACACACAGAATCCAACAGATTCCTTGCTAGAACTAGGAAGATGTAAACTATCTTAGGAAGACCTCAGTGATGGTGTATCTCTCCTAATCGTTTTCCTAGGATATTTCCACAGTGGATGACACCCTGCCTCAGTCCTTGCGCAGCTGGATTACATGCTTCCTGGGGATAATCAGCACCCTTGTCA... |
Task1_train_14363 | This mutation is located in gene ABCC2 (ATP binding cassette subfamily C member 2) on Chromosome 10. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; ABCC2-related disorder | GTGGTTTGAGTGGTTGAGTTGGTTTCTGTGCCTATGATGATTTTCAGTCTTCTGGTTTTTCTGTAGATCACACAAACCCTGAACTGGCTGGTGAGGATGACATCAGAAATAGAGACCAACATTGTGGCTGTTGAGCGAATAACTGAGTACACAAAAGTGGAAAATGAGGTAAGGAGGAACTGGAAAAATCCAGGAACAAGGCAAAAACAACATGCAACTCCTTCGAGAGTGCATCTTTAGAATTTCTCCATATTTTACATGGGCCCATAATGGGTCCCTAAAGTTTCCTTTCCTCTAACTCAAAGGACCTAATTTCTTCA... | GTGGTTTGAGTGGTTGAGTTGGTTTCTGTGCCTATGATGATTTTCAGTCTTCTGGTTTTTCTGTAGATCACACAAACCCTGAACTGGCTGGTGAGGATGACATCAGAAATAGAGACCAACATTGTGGCTGTTGAGCGAATAACTGAGTACACAAAAGTGGAAAATGAGGTAAGGAGGAACTGGAAAAATCCAGGAACAAGGCAAAAACAACATGCAACTCCTTCGAGAGTGCATCTTTAGAATTTCTCCATATTTTACATGGGCCCATAATGGGTCCCTAAAGTTTCCTTTCCTCTAACTCAAAGGACCTAATTTCTTCA... |
Task1_train_14364 | This variant affects the gene ERLIN1 (ER lipid raft associated 1) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Juvenile amyotrophic lateral sclerosis | CAATGACACAGGTACCTTCAAATTCAGCCAGGGTAAAAGTCAGGGTGATATATTACACATGAGGAAAAGTGCCAACAAAATAGTGAAACCAAAAACCACAACTAACAAATCTTGATGTGTTGCTTGTGCTCAATTTTCCAAATACCCTTGCATTTGTAATACTAATGCCAAACACCTGCTGGTTAGCCCATCAAACAGGGGCTAACTTTAAAGTCCACACTAAAGTATCCATTATTTTGGAGGTAATAAGGAACTATCAAAGGTTTCAAGCAAGGGCATGACAGTCAGATTTACGCTTTGGCCAGCAGTGTGAAGATGAA... | CAATGACACAGGTACCTTCAAATTCAGCCAGGGTAAAAGTCAGGGTGATATATTACACATGAGGAAAAGTGCCAACAAAATAGTGAAACCAAAAACCACAACTAACAAATCTTGATGTGTTGCTTGTGCTCAATTTTCCAAATACCCTTGCATTTGTAATACTAATGCCAAACACCTGCTGGTTAGCCCATCAAACAGGGGCTAACTTTAAAGTCCACACTAAAGTATCCATTATTTTGGAGGTAATAAGGAACTATCAAAGGTTTCAAGCAAGGGCATGACAGTCAGATTTACGCTTTGGCCAGCAGTGTGAAGATGAA... |
Task1_train_14365 | This sequence change occurs on Chromosome 10, altering ERLIN1 (ER lipid raft associated 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hereditary spastic paraplegia 62 | TCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCCACGCCCGGCCAAGAACACTTTTTAAATATGGTTTTATTAATATAATTATTTCCTAGAATGTTACCGTTTTACACATAAAGAACATTCCTATTTAGTCACACTGGCTGGCTCTAGCCCATGTAAAACTTTTTTGTAGATGCGAAGTATTTTAGTTTACACTGAAGTCTCTGTACTAATTTCATTTACATCTCTTATGATAGTTTATTATTAAATATATACACACACTATATTTGTTATATATATACACAATTAAACTCCAAAATCTGTTTA... | TCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCCACGCCCGGCCAAGAACACTTTTTAAATATGGTTTTATTAATATAATTATTTCCTAGAATGTTACCGTTTTACACATAAAGAACATTCCTATTTAGTCACACTGGCTGGCTCTAGCCCATGTAAAACTTTTTTGTAGATGCGAAGTATTTTAGTTTACACTGAAGTCTCTGTACTAATTTCATTTACATCTCTTATGATAGTTTATTATTAAATATATACACACACTATATTTGTTATATATATACACAATTAAACTCCAAAATCTGTTTA... |
Task1_train_14366 | Here is a genetic alteration in CWF19L1 (CWF19 like cell cycle control factor 1) on Chromosome 10. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Autosomal recessive spinocerebellar ataxia 17 | ACAGTGGTGCAATCATACCTCACTGCATCCTCAAACTCCTAGGCTTAAGTGATCCTCCTGACTCTCAGCCTCCTGAGTAGCTAAGACTACAGGCACATGCCACCATGCCAAGCTTATTTTTTTATTTTTTGTAGAGACAAGGTGTCTCACTTTGTTGCCCAGGCTGGTATCAAACTCCTGGCTTCAAGTGCTCCTCCCGCCTCAGCCTCCCAAAGTGTTGGATTACAGGTGTGAGCTACCATGCCCAACCCATTGCCTATTTAATAACATTTTTGGAATGCCTTGATAGCTCAACATGTCAAAAACCTTAGGCTCAACAT... | ACAGTGGTGCAATCATACCTCACTGCATCCTCAAACTCCTAGGCTTAAGTGATCCTCCTGACTCTCAGCCTCCTGAGTAGCTAAGACTACAGGCACATGCCACCATGCCAAGCTTATTTTTTTATTTTTTGTAGAGACAAGGTGTCTCACTTTGTTGCCCAGGCTGGTATCAAACTCCTGGCTTCAAGTGCTCCTCCCGCCTCAGCCTCCCAAAGTGTTGGATTACAGGTGTGAGCTACCATGCCCAACCCATTGCCTATTTAATAACATTTTTGGAATGCCTTGATAGCTCAACATGTCAAAAACCTTAGGCTCAACAT... |
Task1_train_14367 | Given this variant in gene NDUFB8 (NADH:ubiquinone oxidoreductase subunit B8) on Chromosome 10, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 32 | GCAGTGGTGGGGGAAAGCACAGAGGAGACAAGGCTGGGACGTGCTTTAGGGGCTGCTGGCTTTACCAACAAACAGCTGTCAGAGAACACAGCTCAAGGGGAGGAGAAAAGGGTGATGTGCTTACAGAACTGAAAAATGGAAGAGCCACACTGTTCCTTGCTCTCCTGAAGTGAAGTTAGTGCTCACCCTAGCCCTACGTGCATTCTCCAGCATGGAGCCCCTGGGGCTTGGTAGGAAGGCTCGTGTCAGTGCACACAGACATACCAGCTACCTTCAGGACATTGATTGTCTCTGCAGAGGTAGCACTGGGCAGCCAACTG... | GCAGTGGTGGGGGAAAGCACAGAGGAGACAAGGCTGGGACGTGCTTTAGGGGCTGCTGGCTTTACCAACAAACAGCTGTCAGAGAACACAGCTCAAGGGGAGGAGAAAAGGGTGATGTGCTTACAGAACTGAAAAATGGAAGAGCCACACTGTTCCTTGCTCTCCTGAAGTGAAGTTAGTGCTCACCCTAGCCCTACGTGCATTCTCCAGCATGGAGCCCCTGGGGCTTGGTAGGAAGGCTCGTGTCAGTGCACACAGACATACCAGCTACCTTCAGGACATTGATTGTCTCTGCAGAGGTAGCACTGGGCAGCCAACTG... |
Task1_train_14368 | A variant was discovered in gene NDUFB8 (NADH:ubiquinone oxidoreductase subunit B8), Chromosome 10. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 32 | CCTCACAATATTTTTTAACACAGTGATTTCCAAATCTAGGTGCACATCAGAATTACCTGGGAGCTTGTTAAAAATACCGCTTCTGGAACCCTACTGTGATGCTACTGAATTAGGAGCACCAAGAAGTGGGGCCTGGGAATCTGGGTTTTTAGCAAGTCTCCAGGAAACCAATGCAGCCGGTTATTTAGGAACGATTCTATACCTCTATTCTACTCCAGCTAACTCACCCTCCTTTTCCTTCATTGTTTTCTTTTTTTTTTTTCGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGGGGGCAGTAGTGTGATTTCAGCTCA... | CCTCACAATATTTTTTAACACAGTGATTTCCAAATCTAGGTGCACATCAGAATTACCTGGGAGCTTGTTAAAAATACCGCTTCTGGAACCCTACTGTGATGCTACTGAATTAGGAGCACCAAGAAGTGGGGCCTGGGAATCTGGGTTTTTAGCAAGTCTCCAGGAAACCAATGCAGCCGGTTATTTAGGAACGATTCTATACCTCTATTCTACTCCAGCTAACTCACCCTCCTTTTCCTTCATTGTTTTCTTTTTTTTTTTTCGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGGGGGCAGTAGTGTGATTTCAGCTCA... |
Task1_train_14369 | This alteration occurs within gene NDUFB8 (NADH:ubiquinone oxidoreductase subunit B8) located on Chromosome 10. Is it associated with a disease or is it a benign variant? | Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 32 | TGAGAGGCTGAGGTGGGCAGATCACCTAAGGTCAGGAATTCAAGACCAGACTGGTCAACATGGTGAAACCCCACCTTTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTGTAATATCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAAGAAGTGGAGGTTGCAGTGTGCCCAGATCGCACCATTGCACTCCAGCCTAGGCAACAAGAGTGAAACTGTCTGAAAAAAACAAAACAAAACAAAAAAACCCAGCTTCCCCAAACTTCTTTCAATAAAAAGAAAAAAAGTCACACAATCGTG... | TGAGAGGCTGAGGTGGGCAGATCACCTAAGGTCAGGAATTCAAGACCAGACTGGTCAACATGGTGAAACCCCACCTTTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTGTAATATCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAAGAAGTGGAGGTTGCAGTGTGCCCAGATCGCACCATTGCACTCCAGCCTAGGCAACAAGAGTGAAACTGTCTGAAAAAAACAAAACAAAACAAAAAAACCCAGCTTCCCCAAACTTCTTTCAATAAAAAGAAAAAAAGTCACACAATCGTG... |
Task1_train_14370 | The gene PAX2 (paired box 2) on Chromosome 10 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Focal segmental glomerulosclerosis 7 | CACACGCCGTTTTCGCCCAGCCAGCCTGCCTCGCGGCCCGCTGCCACAGCTCTCGTTCTCCTTTTTTGCGGATTCCGCCGGGGGTCCGCCGAGTCCTGGCTGCCCGCGGGCAGCCACTTTGAAACCCAAAGGTTTCTGCACGGCCAAGCAGAGGTCGGAGGGAGAGAGCCGCAGCGCGGGCCCGCGGGCCGGTGGACTGGTGGGTGAGACACCGCAGCCCGAGTCGGTGCTGGCGGCCGTGGCGCATTCCAGGCCCGACTCAGCGCCGACTCGCTGCAGTCCCCCAGCCCTGGACTCCCGCCGTGTCCCCTTCCCATCCC... | CACACGCCGTTTTCGCCCAGCCAGCCTGCCTCGCGGCCCGCTGCCACAGCTCTCGTTCTCCTTTTTTGCGGATTCCGCCGGGGGTCCGCCGAGTCCTGGCTGCCCGCGGGCAGCCACTTTGAAACCCAAAGGTTTCTGCACGGCCAAGCAGAGGTCGGAGGGAGAGAGCCGCAGCGCGGGCCCGCGGGCCGGTGGACTGGTGGGTGAGACACCGCAGCCCGAGTCGGTGCTGGCGGCCGTGGCGCATTCCAGGCCCGACTCAGCGCCGACTCGCTGCAGTCCCCCAGCCCTGGACTCCCGCCGTGTCCCCTTCCCATCCC... |
Task1_train_14371 | This variant lies on Chromosome 10 and affects the gene PAX2 (paired box 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | CCAGCCTGCCTCGCGGCCCGCTGCCACAGCTCTCGTTCTCCTTTTTTGCGGATTCCGCCGGGGGTCCGCCGAGTCCTGGCTGCCCGCGGGCAGCCACTTTGAAACCCAAAGGTTTCTGCACGGCCAAGCAGAGGTCGGAGGGAGAGAGCCGCAGCGCGGGCCCGCGGGCCGGTGGACTGGTGGGTGAGACACCGCAGCCCGAGTCGGTGCTGGCGGCCGTGGCGCATTCCAGGCCCGACTCAGCGCCGACTCGCTGCAGTCCCCCAGCCCTGGACTCCCGCCGTGTCCCCTTCCCATCCCCACCCCTTAGACTGGGGCTG... | CCAGCCTGCCTCGCGGCCCGCTGCCACAGCTCTCGTTCTCCTTTTTTGCGGATTCCGCCGGGGGTCCGCCGAGTCCTGGCTGCCCGCGGGCAGCCACTTTGAAACCCAAAGGTTTCTGCACGGCCAAGCAGAGGTCGGAGGGAGAGAGCCGCAGCGCGGGCCCGCGGGCCGGTGGACTGGTGGGTGAGACACCGCAGCCCGAGTCGGTGCTGGCGGCCGTGGCGCATTCCAGGCCCGACTCAGCGCCGACTCGCTGCAGTCCCCCAGCCCTGGACTCCCGCCGTGTCCCCTTCCCATCCCCACCCCTTAGACTGGGGCTG... |
Task1_train_14372 | The gene PAX2 (paired box 2) on Chromosome 10 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Papillorenal syndrome with macular abnormalities | ACAGCTCTCGTTCTCCTTTTTTGCGGATTCCGCCGGGGGTCCGCCGAGTCCTGGCTGCCCGCGGGCAGCCACTTTGAAACCCAAAGGTTTCTGCACGGCCAAGCAGAGGTCGGAGGGAGAGAGCCGCAGCGCGGGCCCGCGGGCCGGTGGACTGGTGGGTGAGACACCGCAGCCCGAGTCGGTGCTGGCGGCCGTGGCGCATTCCAGGCCCGACTCAGCGCCGACTCGCTGCAGTCCCCCAGCCCTGGACTCCCGCCGTGTCCCCTTCCCATCCCCACCCCTTAGACTGGGGCTGAGGGGCCGGGCCCTGAGCCCGGGGA... | ACAGCTCTCGTTCTCCTTTTTTGCGGATTCCGCCGGGGGTCCGCCGAGTCCTGGCTGCCCGCGGGCAGCCACTTTGAAACCCAAAGGTTTCTGCACGGCCAAGCAGAGGTCGGAGGGAGAGAGCCGCAGCGCGGGCCCGCGGGCCGGTGGACTGGTGGGTGAGACACCGCAGCCCGAGTCGGTGCTGGCGGCCGTGGCGCATTCCAGGCCCGACTCAGCGCCGACTCGCTGCAGTCCCCCAGCCCTGGACTCCCGCCGTGTCCCCTTCCCATCCCCACCCCTTAGACTGGGGCTGAGGGGCCGGGCCCTGAGCCCGGGGA... |
Task1_train_14373 | Mutation context: Chromosome 10, Gene PAX2 (paired box 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Focal segmental glomerulosclerosis 7 | CCGCCTCGGTTCCGAGATCGGGAGCCCGCGCTGGAGCCGGGTTGGAAACCCCGTGCCCTTCTCTTGGCCGAAAGAGCAAAAGCCCGAGCCGCTCGGTTTCCTGGGGGGGCTGCCGAGGTCTGAGGGGTCAAAGGGACTCGAGTCGGGTTTGGGTCGGCTACACAGGGCGCCCCGAGAGTTATTAACTCGCCAGCGAGGCCTATGCCGTGCCACCTGGGCGAGACGGTGGGCCCCAACCAGGCTCTGCGAGGCGCGGCAGGCAGGCGAGCCCAAGCAGCCGGCATTCTCTGCCTGCTGCCTGGAGCCGCTCTGCCTCCCTG... | CCGCCTCGGTTCCGAGATCGGGAGCCCGCGCTGGAGCCGGGTTGGAAACCCCGTGCCCTTCTCTTGGCCGAAAGAGCAAAAGCCCGAGCCGCTCGGTTTCCTGGGGGGGCTGCCGAGGTCTGAGGGGTCAAAGGGACTCGAGTCGGGTTTGGGTCGGCTACACAGGGCGCCCCGAGAGTTATTAACTCGCCAGCGAGGCCTATGCCGTGCCACCTGGGCGAGACGGTGGGCCCCAACCAGGCTCTGCGAGGCGCGGCAGGCAGGCGAGCCCAAGCAGCCGGCATTCTCTGCCTGCTGCCTGGAGCCGCTCTGCCTCCCTG... |
Task1_train_14374 | Gene PAX2 (paired box 2) on Chromosome 10 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Renal coloboma syndrome | CCGCCTCGGTTCCGAGATCGGGAGCCCGCGCTGGAGCCGGGTTGGAAACCCCGTGCCCTTCTCTTGGCCGAAAGAGCAAAAGCCCGAGCCGCTCGGTTTCCTGGGGGGGCTGCCGAGGTCTGAGGGGTCAAAGGGACTCGAGTCGGGTTTGGGTCGGCTACACAGGGCGCCCCGAGAGTTATTAACTCGCCAGCGAGGCCTATGCCGTGCCACCTGGGCGAGACGGTGGGCCCCAACCAGGCTCTGCGAGGCGCGGCAGGCAGGCGAGCCCAAGCAGCCGGCATTCTCTGCCTGCTGCCTGGAGCCGCTCTGCCTCCCTG... | CCGCCTCGGTTCCGAGATCGGGAGCCCGCGCTGGAGCCGGGTTGGAAACCCCGTGCCCTTCTCTTGGCCGAAAGAGCAAAAGCCCGAGCCGCTCGGTTTCCTGGGGGGGCTGCCGAGGTCTGAGGGGTCAAAGGGACTCGAGTCGGGTTTGGGTCGGCTACACAGGGCGCCCCGAGAGTTATTAACTCGCCAGCGAGGCCTATGCCGTGCCACCTGGGCGAGACGGTGGGCCCCAACCAGGCTCTGCGAGGCGCGGCAGGCAGGCGAGCCCAAGCAGCCGGCATTCTCTGCCTGCTGCCTGGAGCCGCTCTGCCTCCCTG... |
Task1_train_14375 | Here’s a variant in PAX2 (paired box 2) located on Chromosome 10. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Renal coloboma syndrome | TGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTGCCTGAATAGCTAAGATTACAGGTATCTGCCACCATGCCTGGCTAATTTTTGTACTTTTAGTAGAGTCGAGATTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGGTCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCAGTAGTGTGATCTTGAGTGAGCTACTTAAACTTGTCTCAGCTTTGGTTTTCAATTTGCAAAATGAGGATAATAGTCTCTACT... | TGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTGCCTGAATAGCTAAGATTACAGGTATCTGCCACCATGCCTGGCTAATTTTTGTACTTTTAGTAGAGTCGAGATTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGGTCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCAGTAGTGTGATCTTGAGTGAGCTACTTAAACTTGTCTCAGCTTTGGTTTTCAATTTGCAAAATGAGGATAATAGTCTCTACT... |
Task1_train_14376 | A mutation on Chromosome 10 affecting PAX2 (paired box 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Focal segmental glomerulosclerosis 7 | TGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTGCCTGAATAGCTAAGATTACAGGTATCTGCCACCATGCCTGGCTAATTTTTGTACTTTTAGTAGAGTCGAGATTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGGTCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCAGTAGTGTGATCTTGAGTGAGCTACTTAAACTTGTCTCAGCTTTGGTTTTCAATTTGCAAAATGAGGATAATAGTCTCTACT... | TGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTGCCTGAATAGCTAAGATTACAGGTATCTGCCACCATGCCTGGCTAATTTTTGTACTTTTAGTAGAGTCGAGATTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGGTCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCAGTAGTGTGATCTTGAGTGAGCTACTTAAACTTGTCTCAGCTTTGGTTTTCAATTTGCAAAATGAGGATAATAGTCTCTACT... |
Task1_train_14377 | This variant affects the gene PAX2 (paired box 2) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Focal segmental glomerulosclerosis 7 | AGGACATAAGGCAGGCTGCATTCACCCAGAGCTGCATTACGTTGGATCTGCGGAGCCAACAGAAGGAAAACCCTGTGCCTTGCAGCAGTCAGTGAGGGCAGGGACACAGGGAGCAGATGGATGAGGAAATCGCTGAGGAACTTGGGAGAGAGCCCCTTTGCAGGGCTGGGCTGGAATTGGCCGGGATAGGAGTGGGCATTTGATGTGTGATGCTGTTGTGACGCTGTTGCAGAATCATCCGGACCAAAGTTCAGCAGCCTTTCCACCCAACGCCGGATGGGGCTGGGACAGGAGTGACCGCCCCTGGCCACACCATTGGT... | AGGACATAAGGCAGGCTGCATTCACCCAGAGCTGCATTACGTTGGATCTGCGGAGCCAACAGAAGGAAAACCCTGTGCCTTGCAGCAGTCAGTGAGGGCAGGGACACAGGGAGCAGATGGATGAGGAAATCGCTGAGGAACTTGGGAGAGAGCCCCTTTGCAGGGCTGGGCTGGAATTGGCCGGGATAGGAGTGGGCATTTGATGTGTGATGCTGTTGTGACGCTGTTGCAGAATCATCCGGACCAAAGTTCAGCAGCCTTTCCACCCAACGCCGGATGGGGCTGGGACAGGAGTGACCGCCCCTGGCCACACCATTGGT... |
Task1_train_14378 | This alteration occurs within gene SLF2 (SMC5-SMC6 complex localization factor 2) located on Chromosome 10. Is it associated with a disease or is it a benign variant? | Pathogenic; Atelis syndrome 1 | GAGCCACCGCGTCCAGCCAGTGATATCTTACTGTTTTTATTACATCTCTTTGATCTAGTGATATTGAGCATCTTTGAAAAACTATGTTGGTATATTATTTTGTATATTTGTATCTTATTAATTTGTGGTTTGATTTTTGCATGCAGCCTTTTCCTTTGTGGTTTTTTGGTTTCATGTCATGCTGTATACTAAAAAGACATTTTTTGATAGTTTCAAATGTTATATTTGTCTAATTATAAATGAAAGTTGTAAAAAAAAAAAAAGCAGCATGTTAGAATGTAAAGAGCTCTGACTTTAGAATTAAATTCCACCTTCTCCAC... | GAGCCACCGCGTCCAGCCAGTGATATCTTACTGTTTTTATTACATCTCTTTGATCTAGTGATATTGAGCATCTTTGAAAAACTATGTTGGTATATTATTTTGTATATTTGTATCTTATTAATTTGTGGTTTGATTTTTGCATGCAGCCTTTTCCTTTGTGGTTTTTTGGTTTCATGTCATGCTGTATACTAAAAAGACATTTTTTGATAGTTTCAAATGTTATATTTGTCTAATTATAAATGAAAGTTGTAAAAAAAAAAAAAGCAGCATGTTAGAATGTAAAGAGCTCTGACTTTAGAATTAAATTCCACCTTCTCCAC... |
Task1_train_14379 | A mutation on Chromosome 10 affecting TWNK (twinkle mtDNA helicase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | TCTGGGCACGCAGCACGGACGCGAGTTTACATATATTACGACCCCTGGATTCCGTCGGGCGAAGTCGATCACCTCCCGCTCCACGAACTCCCTAAGCGACCCGGGACAGTGAGCAGTATGACCCCTGACTGGGGGCGACCTACCCGGGGAGTCGTTGCCACCTCCACACCCACCCCGACCCGCGCCTGCGCACTTCCCTTGGCTCACCTGGCGCCGCGAGACGAGGCGCCGTCGCGGCTGACGCTGAAGCTCAGACGCTGCAGCTGCTGCACATAGCGACCCAGTCCGTTGTGGAGAACGCTGGCCAAGAAGCGGCTCGG... | TCTGGGCACGCAGCACGGACGCGAGTTTACATATATTACGACCCCTGGATTCCGTCGGGCGAAGTCGATCACCTCCCGCTCCACGAACTCCCTAAGCGACCCGGGACAGTGAGCAGTATGACCCCTGACTGGGGGCGACCTACCCGGGGAGTCGTTGCCACCTCCACACCCACCCCGACCCGCGCCTGCGCACTTCCCTTGGCTCACCTGGCGCCGCGAGACGAGGCGCCGTCGCGGCTGACGCTGAAGCTCAGACGCTGCAGCTGCTGCACATAGCGACCCAGTCCGTTGTGGAGAACGCTGGCCAAGAAGCGGCTCGG... |
Task1_train_14380 | This variant affects the gene TWNK (twinkle mtDNA helicase) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; See cases | CGCAGCACGGACGCGAGTTTACATATATTACGACCCCTGGATTCCGTCGGGCGAAGTCGATCACCTCCCGCTCCACGAACTCCCTAAGCGACCCGGGACAGTGAGCAGTATGACCCCTGACTGGGGGCGACCTACCCGGGGAGTCGTTGCCACCTCCACACCCACCCCGACCCGCGCCTGCGCACTTCCCTTGGCTCACCTGGCGCCGCGAGACGAGGCGCCGTCGCGGCTGACGCTGAAGCTCAGACGCTGCAGCTGCTGCACATAGCGACCCAGTCCGTTGTGGAGAACGCTGGCCAAGAAGCGGCTCGGAGTCCCGC... | CGCAGCACGGACGCGAGTTTACATATATTACGACCCCTGGATTCCGTCGGGCGAAGTCGATCACCTCCCGCTCCACGAACTCCCTAAGCGACCCGGGACAGTGAGCAGTATGACCCCTGACTGGGGGCGACCTACCCGGGGAGTCGTTGCCACCTCCACACCCACCCCGACCCGCGCCTGCGCACTTCCCTTGGCTCACCTGGCGCCGCGAGACGAGGCGCCGTCGCGGCTGACGCTGAAGCTCAGACGCTGCAGCTGCTGCACATAGCGACCCAGTCCGTTGTGGAGAACGCTGGCCAAGAAGCGGCTCGGAGTCCCGC... |
Task1_train_14381 | The gene TWNK (twinkle mtDNA helicase) on Chromosome 10 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | AGCACGGACGCGAGTTTACATATATTACGACCCCTGGATTCCGTCGGGCGAAGTCGATCACCTCCCGCTCCACGAACTCCCTAAGCGACCCGGGACAGTGAGCAGTATGACCCCTGACTGGGGGCGACCTACCCGGGGAGTCGTTGCCACCTCCACACCCACCCCGACCCGCGCCTGCGCACTTCCCTTGGCTCACCTGGCGCCGCGAGACGAGGCGCCGTCGCGGCTGACGCTGAAGCTCAGACGCTGCAGCTGCTGCACATAGCGACCCAGTCCGTTGTGGAGAACGCTGGCCAAGAAGCGGCTCGGAGTCCCGCGCG... | AGCACGGACGCGAGTTTACATATATTACGACCCCTGGATTCCGTCGGGCGAAGTCGATCACCTCCCGCTCCACGAACTCCCTAAGCGACCCGGGACAGTGAGCAGTATGACCCCTGACTGGGGGCGACCTACCCGGGGAGTCGTTGCCACCTCCACACCCACCCCGACCCGCGCCTGCGCACTTCCCTTGGCTCACCTGGCGCCGCGAGACGAGGCGCCGTCGCGGCTGACGCTGAAGCTCAGACGCTGCAGCTGCTGCACATAGCGACCCAGTCCGTTGTGGAGAACGCTGGCCAAGAAGCGGCTCGGAGTCCCGCGCG... |
Task1_train_14382 | Here is a mutation in TWNK (twinkle mtDNA helicase) on Chromosome 10. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | ATGACCCCTGACTGGGGGCGACCTACCCGGGGAGTCGTTGCCACCTCCACACCCACCCCGACCCGCGCCTGCGCACTTCCCTTGGCTCACCTGGCGCCGCGAGACGAGGCGCCGTCGCGGCTGACGCTGAAGCTCAGACGCTGCAGCTGCTGCACATAGCGACCCAGTCCGTTGTGGAGAACGCTGGCCAAGAAGCGGCTCGGAGTCCCGCGCGCCGTCATAGCTACAGCTTGGAGGCCGCGGAGCCTAAGCAGCGAGGAGAGGGGGGCGGGACTAAACCTCGAGGCTTCCGGTTCCGGGACGACCGCTCCCGGAGTTTT... | ATGACCCCTGACTGGGGGCGACCTACCCGGGGAGTCGTTGCCACCTCCACACCCACCCCGACCCGCGCCTGCGCACTTCCCTTGGCTCACCTGGCGCCGCGAGACGAGGCGCCGTCGCGGCTGACGCTGAAGCTCAGACGCTGCAGCTGCTGCACATAGCGACCCAGTCCGTTGTGGAGAACGCTGGCCAAGAAGCGGCTCGGAGTCCCGCGCGCCGTCATAGCTACAGCTTGGAGGCCGCGGAGCCTAAGCAGCGAGGAGAGGGGGGCGGGACTAAACCTCGAGGCTTCCGGTTCCGGGACGACCGCTCCCGGAGTTTT... |
Task1_train_14383 | This is a variant in TWNK (twinkle mtDNA helicase), located on Chromosome 10. Is this mutation a likely cause of disease or not? | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | TCCACACCCACCCCGACCCGCGCCTGCGCACTTCCCTTGGCTCACCTGGCGCCGCGAGACGAGGCGCCGTCGCGGCTGACGCTGAAGCTCAGACGCTGCAGCTGCTGCACATAGCGACCCAGTCCGTTGTGGAGAACGCTGGCCAAGAAGCGGCTCGGAGTCCCGCGCGCCGTCATAGCTACAGCTTGGAGGCCGCGGAGCCTAAGCAGCGAGGAGAGGGGGGCGGGACTAAACCTCGAGGCTTCCGGTTCCGGGACGACCGCTCCCGGAGTTTTGCTTCCGAGGTCAAGGCGAGTAGCATGTGCGGGAGACTCACGTTG... | TCCACACCCACCCCGACCCGCGCCTGCGCACTTCCCTTGGCTCACCTGGCGCCGCGAGACGAGGCGCCGTCGCGGCTGACGCTGAAGCTCAGACGCTGCAGCTGCTGCACATAGCGACCCAGTCCGTTGTGGAGAACGCTGGCCAAGAAGCGGCTCGGAGTCCCGCGCGCCGTCATAGCTACAGCTTGGAGGCCGCGGAGCCTAAGCAGCGAGGAGAGGGGGGCGGGACTAAACCTCGAGGCTTCCGGTTCCGGGACGACCGCTCCCGGAGTTTTGCTTCCGAGGTCAAGGCGAGTAGCATGTGCGGGAGACTCACGTTG... |
Task1_train_14384 | This variant lies on Chromosome 10 and affects the gene TWNK (twinkle mtDNA helicase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | CACCCACCCCGACCCGCGCCTGCGCACTTCCCTTGGCTCACCTGGCGCCGCGAGACGAGGCGCCGTCGCGGCTGACGCTGAAGCTCAGACGCTGCAGCTGCTGCACATAGCGACCCAGTCCGTTGTGGAGAACGCTGGCCAAGAAGCGGCTCGGAGTCCCGCGCGCCGTCATAGCTACAGCTTGGAGGCCGCGGAGCCTAAGCAGCGAGGAGAGGGGGGCGGGACTAAACCTCGAGGCTTCCGGTTCCGGGACGACCGCTCCCGGAGTTTTGCTTCCGAGGTCAAGGCGAGTAGCATGTGCGGGAGACTCACGTTGCCGG... | CACCCACCCCGACCCGCGCCTGCGCACTTCCCTTGGCTCACCTGGCGCCGCGAGACGAGGCGCCGTCGCGGCTGACGCTGAAGCTCAGACGCTGCAGCTGCTGCACATAGCGACCCAGTCCGTTGTGGAGAACGCTGGCCAAGAAGCGGCTCGGAGTCCCGCGCGCCGTCATAGCTACAGCTTGGAGGCCGCGGAGCCTAAGCAGCGAGGAGAGGGGGGCGGGACTAAACCTCGAGGCTTCCGGTTCCGGGACGACCGCTCCCGGAGTTTTGCTTCCGAGGTCAAGGCGAGTAGCATGTGCGGGAGACTCACGTTGCCGG... |
Task1_train_14385 | An alteration has been detected in TWNK (twinkle mtDNA helicase) on Chromosome 10. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Mitochondrial disease | TTGGCTCACCTGGCGCCGCGAGACGAGGCGCCGTCGCGGCTGACGCTGAAGCTCAGACGCTGCAGCTGCTGCACATAGCGACCCAGTCCGTTGTGGAGAACGCTGGCCAAGAAGCGGCTCGGAGTCCCGCGCGCCGTCATAGCTACAGCTTGGAGGCCGCGGAGCCTAAGCAGCGAGGAGAGGGGGGCGGGACTAAACCTCGAGGCTTCCGGTTCCGGGACGACCGCTCCCGGAGTTTTGCTTCCGAGGTCAAGGCGAGTAGCATGTGCGGGAGACTCACGTTGCCGGCGAAGTGGGAGAGAGAAAAGTGGTAACCTGGG... | TTGGCTCACCTGGCGCCGCGAGACGAGGCGCCGTCGCGGCTGACGCTGAAGCTCAGACGCTGCAGCTGCTGCACATAGCGACCCAGTCCGTTGTGGAGAACGCTGGCCAAGAAGCGGCTCGGAGTCCCGCGCGCCGTCATAGCTACAGCTTGGAGGCCGCGGAGCCTAAGCAGCGAGGAGAGGGGGGCGGGACTAAACCTCGAGGCTTCCGGTTCCGGGACGACCGCTCCCGGAGTTTTGCTTCCGAGGTCAAGGCGAGTAGCATGTGCGGGAGACTCACGTTGCCGGCGAAGTGGGAGAGAGAAAAGTGGTAACCTGGG... |
Task1_train_14386 | With a mutation on Chromosome 10 in gene TWNK (twinkle mtDNA helicase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | TTGGCTCACCTGGCGCCGCGAGACGAGGCGCCGTCGCGGCTGACGCTGAAGCTCAGACGCTGCAGCTGCTGCACATAGCGACCCAGTCCGTTGTGGAGAACGCTGGCCAAGAAGCGGCTCGGAGTCCCGCGCGCCGTCATAGCTACAGCTTGGAGGCCGCGGAGCCTAAGCAGCGAGGAGAGGGGGGCGGGACTAAACCTCGAGGCTTCCGGTTCCGGGACGACCGCTCCCGGAGTTTTGCTTCCGAGGTCAAGGCGAGTAGCATGTGCGGGAGACTCACGTTGCCGGCGAAGTGGGAGAGAGAAAAGTGGTAACCTGGG... | TTGGCTCACCTGGCGCCGCGAGACGAGGCGCCGTCGCGGCTGACGCTGAAGCTCAGACGCTGCAGCTGCTGCACATAGCGACCCAGTCCGTTGTGGAGAACGCTGGCCAAGAAGCGGCTCGGAGTCCCGCGCGCCGTCATAGCTACAGCTTGGAGGCCGCGGAGCCTAAGCAGCGAGGAGAGGGGGGCGGGACTAAACCTCGAGGCTTCCGGTTCCGGGACGACCGCTCCCGGAGTTTTGCTTCCGAGGTCAAGGCGAGTAGCATGTGCGGGAGACTCACGTTGCCGGCGAAGTGGGAGAGAGAAAAGTGGTAACCTGGG... |
Task1_train_14387 | Here is a variant affecting TWNK (twinkle mtDNA helicase) on Chromosome 10. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | ACGGGGGAGGATAGAGACTGGCATTCCTTTGGGCCGGGGGATTGGCGGGAGTCGTGCTGGGTGCTCTCGCCGTGTTGAGGTCCCAGTGAGGGGAAGGAGAAGCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTG... | ACGGGGGAGGATAGAGACTGGCATTCCTTTGGGCCGGGGGATTGGCGGGAGTCGTGCTGGGTGCTCTCGCCGTGTTGAGGTCCCAGTGAGGGGAAGGAGAAGCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTG... |
Task1_train_14388 | A variant was discovered in gene TWNK (twinkle mtDNA helicase), Chromosome 10. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not provided | CATTCCTTTGGGCCGGGGGATTGGCGGGAGTCGTGCTGGGTGCTCTCGCCGTGTTGAGGTCCCAGTGAGGGGAAGGAGAAGCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAA... | CATTCCTTTGGGCCGGGGGATTGGCGGGAGTCGTGCTGGGTGCTCTCGCCGTGTTGAGGTCCCAGTGAGGGGAAGGAGAAGCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAA... |
Task1_train_14389 | A variant was discovered in gene TWNK (twinkle mtDNA helicase), Chromosome 10. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Infantile onset spinocerebellar ataxia | AGTCGTGCTGGGTGCTCTCGCCGTGTTGAGGTCCCAGTGAGGGGAAGGAGAAGCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAA... | AGTCGTGCTGGGTGCTCTCGCCGTGTTGAGGTCCCAGTGAGGGGAAGGAGAAGCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAA... |
Task1_train_14390 | Consider this mutation in TWNK (twinkle mtDNA helicase) on Chromosome 10. Is this a benign change or a disease-causing variant? | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | GTGCTGGGTGCTCTCGCCGTGTTGAGGTCCCAGTGAGGGGAAGGAGAAGCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAG... | GTGCTGGGTGCTCTCGCCGTGTTGAGGTCCCAGTGAGGGGAAGGAGAAGCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAG... |
Task1_train_14391 | Gene TWNK (twinkle mtDNA helicase), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | GGGTGCTCTCGCCGTGTTGAGGTCCCAGTGAGGGGAAGGAGAAGCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACG... | GGGTGCTCTCGCCGTGTTGAGGTCCCAGTGAGGGGAAGGAGAAGCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACG... |
Task1_train_14392 | This is a variant in TWNK (twinkle mtDNA helicase), located on Chromosome 10. Is this mutation a likely cause of disease or not? | Pathogenic; Mitochondrial disease | CGTGTTGAGGTCCCAGTGAGGGGAAGGAGAAGCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGA... | CGTGTTGAGGTCCCAGTGAGGGGAAGGAGAAGCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGA... |
Task1_train_14393 | The following genetic variant occurs in TWNK (twinkle mtDNA helicase) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | GCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGAAGAGGAGAAATTCATGGAGAGAAAGAATGCA... | GCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGAAGAGGAGAAATTCATGGAGAGAAAGAATGCA... |
Task1_train_14394 | An alteration has been detected in TWNK (twinkle mtDNA helicase) on Chromosome 10. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | CGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGAAGAGGAGAAATTCATGGAGAGAAAGAATGCAC... | CGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGAAGAGGAGAAATTCATGGAGAGAAAGAATGCAC... |
Task1_train_14395 | This alteration occurs within gene TWNK (twinkle mtDNA helicase) located on Chromosome 10. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | GCTGGAAATACAAAGGCTGATAGTTGGTTCTTATGCTCTTCTTGTCCCCCAGGAGCTCACATCCTCTCCTGGGGAAACAGTAAGACAGTGATTGCAATTCAGTATGATAAGAGTATGATAGGCAGCACAAGTATTTGGAGAGCAAAGAGAAAAGATGTCTGAGTCAGCCCGGGACATCTGGGAGACTTCCAGAGGAGGTGACAACAAAGGTTGGGTTGAGGTTTGGTAGACAATGGGTATTAGACAATCAGATAAATGTGAGGGCCTTCTGGGCATCAGGACCAGCCCAATCCTGGAGCTTCTAGTGTTACACTGAATGC... | GCTGGAAATACAAAGGCTGATAGTTGGTTCTTATGCTCTTCTTGTCCCCCAGGAGCTCACATCCTCTCCTGGGGAAACAGTAAGACAGTGATTGCAATTCAGTATGATAAGAGTATGATAGGCAGCACAAGTATTTGGAGAGCAAAGAGAAAAGATGTCTGAGTCAGCCCGGGACATCTGGGAGACTTCCAGAGGAGGTGACAACAAAGGTTGGGTTGAGGTTTGGTAGACAATGGGTATTAGACAATCAGATAAATGTGAGGGCCTTCTGGGCATCAGGACCAGCCCAATCCTGGAGCTTCTAGTGTTACACTGAATGC... |
Task1_train_14396 | This gene mutation involves PDZD7 (PDZ domain containing 7) on Chromosome 10. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | TCCACTCTGAGGCCAGACAGGCGTCAGTCTGATAGGCCCCTGGCCTGCCCTCCGTTACCCCACTCCAGACCCCCTTCTCTTGGACACAAGACTGCACCAGTCAAGGTCCTTGACCCTCCTACTGGGGCCTCCCGCCCCCTCCCAGGCCCTCACTGAGACAGGTGGTTGGCCAGGCCTCACTTGCTGACCATCCCCACATCCCAGCCTAGGCCCCACTCCAGACCCCATTCTCAGTTCTACCCGAAGACACTTCCTGCCTCAGCCCTCACTTGGACACATAGATGCCCAGGCCAAACTCCTTGCCCCCACGGATGTTGAAG... | TCCACTCTGAGGCCAGACAGGCGTCAGTCTGATAGGCCCCTGGCCTGCCCTCCGTTACCCCACTCCAGACCCCCTTCTCTTGGACACAAGACTGCACCAGTCAAGGTCCTTGACCCTCCTACTGGGGCCTCCCGCCCCCTCCCAGGCCCTCACTGAGACAGGTGGTTGGCCAGGCCTCACTTGCTGACCATCCCCACATCCCAGCCTAGGCCCCACTCCAGACCCCATTCTCAGTTCTACCCGAAGACACTTCCTGCCTCAGCCCTCACTTGGACACATAGATGCCCAGGCCAAACTCCTTGCCCCCACGGATGTTGAAG... |
Task1_train_14397 | The gene PDZD7 (PDZ domain containing 7) on Chromosome 10 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Hearing loss, autosomal recessive 57 | ACCCCACTCCAGACCCCCTTCTCTTGGACACAAGACTGCACCAGTCAAGGTCCTTGACCCTCCTACTGGGGCCTCCCGCCCCCTCCCAGGCCCTCACTGAGACAGGTGGTTGGCCAGGCCTCACTTGCTGACCATCCCCACATCCCAGCCTAGGCCCCACTCCAGACCCCATTCTCAGTTCTACCCGAAGACACTTCCTGCCTCAGCCCTCACTTGGACACATAGATGCCCAGGCCAAACTCCTTGCCCCCACGGATGTTGAAGCCCAGGCAGAAGTCGTCGGAGGTTGTGTATAGGTGGACGATGCGCCGGACACCATC... | ACCCCACTCCAGACCCCCTTCTCTTGGACACAAGACTGCACCAGTCAAGGTCCTTGACCCTCCTACTGGGGCCTCCCGCCCCCTCCCAGGCCCTCACTGAGACAGGTGGTTGGCCAGGCCTCACTTGCTGACCATCCCCACATCCCAGCCTAGGCCCCACTCCAGACCCCATTCTCAGTTCTACCCGAAGACACTTCCTGCCTCAGCCCTCACTTGGACACATAGATGCCCAGGCCAAACTCCTTGCCCCCACGGATGTTGAAGCCCAGGCAGAAGTCGTCGGAGGTTGTGTATAGGTGGACGATGCGCCGGACACCATC... |
Task1_train_14398 | Consider this mutation in FGF8 (fibroblast growth factor 8) on Chromosome 10. Is this a benign change or a disease-causing variant? | Pathogenic; Hypogonadotropic hypogonadism 6 with or without anosmia | ATTAAATCCATGATTACAGCTCTAGCCCTAGCACATCCATTATTTCTGGCCCTGAGGTGGCCTGGGGAAGTGTTAGCAATGACCTCTGTAAAGTGCTAGGAGGTACACATCTGAGAGCTCCAAGGACTAGCTAAGAGCCTCTTCTTGCCCCTTTCCCTGCTTCTGTCCTTGCAGGAAAACCCCTCAAGTGACAGTGATGGGGATGGTTGACAGGCAGGTGTCTTTAGGCTGGAGGGAGGCTGTGGTCAGAGCTGGCACCTGGTCATCTGCGTCTCCCAGCCGCCCACCAGCTGGGGCAAGGTTGGAGGGAGGGGCTGACC... | ATTAAATCCATGATTACAGCTCTAGCCCTAGCACATCCATTATTTCTGGCCCTGAGGTGGCCTGGGGAAGTGTTAGCAATGACCTCTGTAAAGTGCTAGGAGGTACACATCTGAGAGCTCCAAGGACTAGCTAAGAGCCTCTTCTTGCCCCTTTCCCTGCTTCTGTCCTTGCAGGAAAACCCCTCAAGTGACAGTGATGGGGATGGTTGACAGGCAGGTGTCTTTAGGCTGGAGGGAGGCTGTGGTCAGAGCTGGCACCTGGTCATCTGCGTCTCCCAGCCGCCCACCAGCTGGGGCAAGGTTGGAGGGAGGGGCTGACC... |
Task1_train_14399 | This variant lies on Chromosome 10 and affects the gene FGF8 (fibroblast growth factor 8). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hypogonadotropic hypogonadism 6 with or without anosmia | TCAGCAAGTCAGTCATCACTGCTCAGCTTGTAATGTTCCCCGCTTCACACAGGCTCAGTGCTGGGACCAGTGGCCAAGCCCCCGGTTTGGCCCCAAGTCAGCAGGGAAATGCAGCTGTCACCTCCCTGCCTGCCCACCTCCTCCTGGACCTAGCCAGTCTGCTCATCCCTCTCCCGCTCTGCCTTCCACAGCAAGAGGCAGCTATTTTTAAGGGCCAGGAAGGATGCTGACTGGAGGAGTGAGAGGATGCCACTCTGGGGATTCTGGCCAGATGCGGCAGGCAGGGATGAAGTAGGTGCCTCTGCATCTTCCTGGGGCCG... | TCAGCAAGTCAGTCATCACTGCTCAGCTTGTAATGTTCCCCGCTTCACACAGGCTCAGTGCTGGGACCAGTGGCCAAGCCCCCGGTTTGGCCCCAAGTCAGCAGGGAAATGCAGCTGTCACCTCCCTGCCTGCCCACCTCCTCCTGGACCTAGCCAGTCTGCTCATCCCTCTCCCGCTCTGCCTTCCACAGCAAGAGGCAGCTATTTTTAAGGGCCAGGAAGGATGCTGACTGGAGGAGTGAGAGGATGCCACTCTGGGGATTCTGGCCAGATGCGGCAGGCAGGGATGAAGTAGGTGCCTCTGCATCTTCCTGGGGCCG... |
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