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_13500 | Given this context: Chromosome 9, gene KCNT1 (potassium sodium-activated channel subfamily T member 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 5 | ACGCCAAGGCCTACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAA... | ACGCCAAGGCCTACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAA... |
Task1_train_13501 | This genomic variant is located on Chromosome 9, within the KCNT1 (potassium sodium-activated channel subfamily T member 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Seizure | ACGCCAAGGCCTACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAA... | ACGCCAAGGCCTACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAA... |
Task1_train_13502 | This gene mutation involves KCNT1 (potassium sodium-activated channel subfamily T member 1) on Chromosome 9. Is it associated with any clinical condition, or is it benign? | Pathogenic; Developmental and epileptic encephalopathy, 14 | ACGCCAAGGCCTACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAA... | ACGCCAAGGCCTACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAA... |
Task1_train_13503 | A mutation on Chromosome 9 affecting KCNT1 (potassium sodium-activated channel subfamily T member 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 5 | ACGCCAAGGCCTACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAA... | ACGCCAAGGCCTACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAA... |
Task1_train_13504 | This alteration occurs within gene KCNT1 (potassium sodium-activated channel subfamily T member 1) located on Chromosome 9. Is it associated with a disease or is it a benign variant? | Pathogenic; Developmental and epileptic encephalopathy, 14 | ACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTC... | ACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTC... |
Task1_train_13505 | This alteration in KCNT1 (potassium sodium-activated channel subfamily T member 1) on Chromosome 9 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 5 | ACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTC... | ACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTC... |
Task1_train_13506 | A change on Chromosome 9 affects gene KCNT1 (potassium sodium-activated channel subfamily T member 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 14 | GGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCA... | GGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCA... |
Task1_train_13507 | This sequence change occurs on Chromosome 9, altering KCNT1 (potassium sodium-activated channel subfamily T member 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 5 | GGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCA... | GGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCA... |
Task1_train_13508 | The gene KCNT1 (potassium sodium-activated channel subfamily T member 1) is located on Chromosome 9, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 5 | TCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCT... | TCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCT... |
Task1_train_13509 | Here is a genetic alteration in KCNT1 (potassium sodium-activated channel subfamily T member 1) on Chromosome 9. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Developmental and epileptic encephalopathy, 14 | TCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCT... | TCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCT... |
Task1_train_13510 | Here is a variant affecting KCNT1 (potassium sodium-activated channel subfamily T member 1) on Chromosome 9. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Developmental and epileptic encephalopathy, 14 | TCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCT... | TCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCT... |
Task1_train_13511 | This variant affects gene KCNT1 (potassium sodium-activated channel subfamily T member 1) located on Chromosome 9. Evaluate its biological effect and specify any disease association. | Pathogenic; Developmental and epileptic encephalopathy, 14 | CAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTC... | CAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTC... |
Task1_train_13512 | A variant was discovered on Chromosome 9, affecting KCNT1 (potassium sodium-activated channel subfamily T member 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 5 | CAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTC... | CAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTC... |
Task1_train_13513 | An alteration has been detected in KCNT1 (potassium sodium-activated channel subfamily T member 1) on Chromosome 9. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Developmental and epileptic encephalopathy, 14 | GCGGACGGATCACCTGAGGTCAGGAGTTCGAGACCAGGCTGGCCAACATGGAGAAACCTCTCTACTAAAGACACAAAAATTAGCCGGGCGTGGTGGCTGTAACCCCAGCTACTTGGGAGGCTAGGGCAGGAGAATTGTTTGAACCCGGGATGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGGCTGGGCGACAGAGCGAGACCCTGTCTCAAAAAAAACCAAGCAAAAAAATGAAACTATTATTAAGGATGCTGCTGGTGGGGTGACATGCATCTCCCCTTGAGGGCTGGCTCCAGAAGGCTCTCAGAG... | GCGGACGGATCACCTGAGGTCAGGAGTTCGAGACCAGGCTGGCCAACATGGAGAAACCTCTCTACTAAAGACACAAAAATTAGCCGGGCGTGGTGGCTGTAACCCCAGCTACTTGGGAGGCTAGGGCAGGAGAATTGTTTGAACCCGGGATGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGGCTGGGCGACAGAGCGAGACCCTGTCTCAAAAAAAACCAAGCAAAAAAATGAAACTATTATTAAGGATGCTGCTGGTGGGGTGACATGCATCTCCCCTTGAGGGCTGGCTCCAGAAGGCTCTCAGAG... |
Task1_train_13514 | A mutation found in KCNT1 (potassium sodium-activated channel subfamily T member 1) on Chromosome 9 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 5 | GCGGACGGATCACCTGAGGTCAGGAGTTCGAGACCAGGCTGGCCAACATGGAGAAACCTCTCTACTAAAGACACAAAAATTAGCCGGGCGTGGTGGCTGTAACCCCAGCTACTTGGGAGGCTAGGGCAGGAGAATTGTTTGAACCCGGGATGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGGCTGGGCGACAGAGCGAGACCCTGTCTCAAAAAAAACCAAGCAAAAAAATGAAACTATTATTAAGGATGCTGCTGGTGGGGTGACATGCATCTCCCCTTGAGGGCTGGCTCCAGAAGGCTCTCAGAG... | GCGGACGGATCACCTGAGGTCAGGAGTTCGAGACCAGGCTGGCCAACATGGAGAAACCTCTCTACTAAAGACACAAAAATTAGCCGGGCGTGGTGGCTGTAACCCCAGCTACTTGGGAGGCTAGGGCAGGAGAATTGTTTGAACCCGGGATGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGGCTGGGCGACAGAGCGAGACCCTGTCTCAAAAAAAACCAAGCAAAAAAATGAAACTATTATTAAGGATGCTGCTGGTGGGGTGACATGCATCTCCCCTTGAGGGCTGGCTCCAGAAGGCTCTCAGAG... |
Task1_train_13515 | A variant was discovered in gene LHX3 (LIM homeobox 3), Chromosome 9. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Combined pituitary hormone deficiencies, genetic form | GGTGGGGCTGGAGGCAGAGAGGCCCCCTGTGGTCTGGGGAGAGGAGGGGGCCTCTCCCGGAGGACACAGGTGTGTCCCCGCCTCTGCAGCCTCTTGCCTCGACAGGCAAGGCCAATCTCCGACCTAAAGAGGGAGCCTCGGGGTGACGGCTCCAAGACACATGGAGCCTGGGAAGTGAAAGCACAATTATGATGATTTCTCAGTTTTAGAGATGAAAGCGTTTTTCCAGCCCTCGGGCTATGCTGGGCTGGGCTGGGCCTCAGCAAGGTGACATTTCATGTCTAGAAATAGCAGCAAGTGCTCAGTTAATTGGTCAATAA... | GGTGGGGCTGGAGGCAGAGAGGCCCCCTGTGGTCTGGGGAGAGGAGGGGGCCTCTCCCGGAGGACACAGGTGTGTCCCCGCCTCTGCAGCCTCTTGCCTCGACAGGCAAGGCCAATCTCCGACCTAAAGAGGGAGCCTCGGGGTGACGGCTCCAAGACACATGGAGCCTGGGAAGTGAAAGCACAATTATGATGATTTCTCAGTTTTAGAGATGAAAGCGTTTTTCCAGCCCTCGGGCTATGCTGGGCTGGGCTGGGCCTCAGCAAGGTGACATTTCATGTCTAGAAATAGCAGCAAGTGCTCAGTTAATTGGTCAATAA... |
Task1_train_13516 | Given this context: Chromosome 9, gene LHX3 (LIM homeobox 3) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Non-acquired combined pituitary hormone deficiency with spine abnormalities | GAAGCAGAGGCTCAGTCAGCGCCTGCCCTCCACCTGCGGCCCCTCAGAGTCCCATCCTGCAGGCGGAGGCACCCCTGGGTCGGAGAAAGAGTGGCTGCCCCACACCACATGACAGGTCATAACAGGCCCCTTCTACTGTTGGAGCATGGCTGCCCCTGCCCCTCCACTGCCCTCACCCCTGAGTCAGCCCAGGTGTCTCAGGCCTGGTGGGATCAGAGTCAGGAACAGCCCAGCCAGGGCCCAGGCTTTCAGGACCAGCCCCACAGCAGCCTAGGAAGGGGGCACAGATACCACCACCCACATTTTGCAGACAAGGATAT... | GAAGCAGAGGCTCAGTCAGCGCCTGCCCTCCACCTGCGGCCCCTCAGAGTCCCATCCTGCAGGCGGAGGCACCCCTGGGTCGGAGAAAGAGTGGCTGCCCCACACCACATGACAGGTCATAACAGGCCCCTTCTACTGTTGGAGCATGGCTGCCCCTGCCCCTCCACTGCCCTCACCCCTGAGTCAGCCCAGGTGTCTCAGGCCTGGTGGGATCAGAGTCAGGAACAGCCCAGCCAGGGCCCAGGCTTTCAGGACCAGCCCCACAGCAGCCTAGGAAGGGGGCACAGATACCACCACCCACATTTTGCAGACAAGGATAT... |
Task1_train_13517 | Given this variant in gene PMPCA, LOC130003010 (peptidase, mitochondrial processing subunit alpha| ATAC-STARR-seq lymphoblastoid active region 29308) on Chromosome 9, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Autosomal recessive spinocerebellar ataxia 2 | ACTTTTCCCTTCTCCCTCTTGCCACCGCCTTCCCACCCTCCGGGGACTTAAGCAGCCACACTCGACCCTCCCAGCTGTGAGCCCCATGTAAAGCTGGCTCCTGTGGCCCCAGCCCCCCAGGTGGGGCTTCCCCGCTCCCTGATGTCACCTCGCTGCTACTCTAGGATCAAGACTGAACCCTTGAAATCCCACCCCCACCTGCTCTTTTGGGCTCCAGCTACACCACATAGCCAGTCACATTGACAGTCCCACCAGACACGTGCCTGGCACTGTGTTGGATGGAGACAAGAAGAAAAGGTTGCTGAACTACTCTACCTCCA... | ACTTTTCCCTTCTCCCTCTTGCCACCGCCTTCCCACCCTCCGGGGACTTAAGCAGCCACACTCGACCCTCCCAGCTGTGAGCCCCATGTAAAGCTGGCTCCTGTGGCCCCAGCCCCCCAGGTGGGGCTTCCCCGCTCCCTGATGTCACCTCGCTGCTACTCTAGGATCAAGACTGAACCCTTGAAATCCCACCCCCACCTGCTCTTTTGGGCTCCAGCTACACCACATAGCCAGTCACATTGACAGTCCCACCAGACACGTGCCTGGCACTGTGTTGGATGGAGACAAGAAGAAAAGGTTGCTGAACTACTCTACCTCCA... |
Task1_train_13518 | This variant affects the gene PMPCA (peptidase, mitochondrial processing subunit alpha) found on Chromosome 9. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Autosomal recessive spinocerebellar ataxia 2 | CCCGGCTCCGCCCGTGCCGCGGCCCGCGTCGCCCGCCCCCGTCGCCCGCCCCCGTCGCCCGCCGCTCGGCCGCCCCCGCGCCTCCGAGCCTCTCGCCGCTGCTTCCGCTCCGAGCACCGAAAGCGCGTGCCTGAACGCCTTGGGCCGTCGGCGAGGGGGAGGGGAAGCCGTGGGCGGAAGCGGAAGTGACGACTGAAGCGGGGCGGAGACGCAAGATGGCGGCTGTGGTGCTGGCGGCGACGCGGTTGCTGCGGGGCTCGGGTTCTTGGGGCTGTTCGCGGCTGAGGTGAGCCAAAGGCGAACCAGGCTTCGGCCTGGGG... | CCCGGCTCCGCCCGTGCCGCGGCCCGCGTCGCCCGCCCCCGTCGCCCGCCCCCGTCGCCCGCCGCTCGGCCGCCCCCGCGCCTCCGAGCCTCTCGCCGCTGCTTCCGCTCCGAGCACCGAAAGCGCGTGCCTGAACGCCTTGGGCCGTCGGCGAGGGGGAGGGGAAGCCGTGGGCGGAAGCGGAAGTGACGACTGAAGCGGGGCGGAGACGCAAGATGGCGGCTGTGGTGCTGGCGGCGACGCGGTTGCTGCGGGGCTCGGGTTCTTGGGGCTGTTCGCGGCTGAGGTGAGCCAAAGGCGAACCAGGCTTCGGCCTGGGG... |
Task1_train_13519 | Consider a variant on Chromosome 9 in gene LOC126860792, PMPCA (CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:139310410-139311609| peptidase, mitochondrial processing subunit alpha). Determine its clinical classification and disease relevance. | Pathogenic; Autosomal recessive spinocerebellar ataxia 2 | CACTGTAAGACAGGAAAAGAGAAAGGGGAAAAGTGTCTGCTGTTCCCCGATGAAGGGTAGGAGGTGTCCCCTGGCACGCAAAGCCCAAGCGTCCCTGAAATGTCTGCTGGGCCCCAACAAAAGGTAGGTGCCCCTGGCATGCAAAGCCCAAGTGTCCCCTGGCTGTTGAGCAGAGTGTGAGCTCAGGGCCTGGCATTGTCCACCTGGCACGCAAAGCCCGAGCGTCCCCTGGCTGTTAAGCAGAGTGTGAGTTCAGGGCCTGGCATTATGGGCTTGTGTTTTCTTCCAGAGACACCACCATGTATGCTGTGTCTGCTGAT... | CACTGTAAGACAGGAAAAGAGAAAGGGGAAAAGTGTCTGCTGTTCCCCGATGAAGGGTAGGAGGTGTCCCCTGGCACGCAAAGCCCAAGCGTCCCTGAAATGTCTGCTGGGCCCCAACAAAAGGTAGGTGCCCCTGGCATGCAAAGCCCAAGTGTCCCCTGGCTGTTGAGCAGAGTGTGAGCTCAGGGCCTGGCATTGTCCACCTGGCACGCAAAGCCCGAGCGTCCCCTGGCTGTTAAGCAGAGTGTGAGTTCAGGGCCTGGCATTATGGGCTTGTGTTTTCTTCCAGAGACACCACCATGTATGCTGTGTCTGCTGAT... |
Task1_train_13520 | The gene PMPCA (peptidase, mitochondrial processing subunit alpha), on Chromosome 9, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Global brain atrophy | GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGC... | GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGC... |
Task1_train_13521 | Located on Chromosome 9, this mutation impacts PMPCA (peptidase, mitochondrial processing subunit alpha). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Bilateral ptosis | GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGC... | GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGC... |
Task1_train_13522 | This variant impacts the gene PMPCA (peptidase, mitochondrial processing subunit alpha) on Chromosome 9. Is the change likely to result in a pathogenic outcome? | Pathogenic; Hypoventilation | GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGC... | GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGC... |
Task1_train_13523 | This sequence change occurs on Chromosome 9, altering PMPCA (peptidase, mitochondrial processing subunit alpha). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Blindness | GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGC... | GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGC... |
Task1_train_13524 | The gene PMPCA (peptidase, mitochondrial processing subunit alpha) on Chromosome 9 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Restrictive external ophthalmoplegia | GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGC... | GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGC... |
Task1_train_13525 | Given a variant located on Chromosome 9 and affecting PMPCA (peptidase, mitochondrial processing subunit alpha), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Infantile muscular hypotonia | GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGC... | GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGC... |
Task1_train_13526 | Mutation context: Chromosome 9, Gene PMPCA (peptidase, mitochondrial processing subunit alpha). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Optic atrophy | GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGC... | GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGC... |
Task1_train_13527 | This mutation is located in gene PMPCA (peptidase, mitochondrial processing subunit alpha) on Chromosome 9. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hypertrophic cardiomyopathy | GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGC... | GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGC... |
Task1_train_13528 | A sequence alteration has been identified in PMPCA (peptidase, mitochondrial processing subunit alpha) on Chromosome 9. Is it disease-inducing or harmless? | Pathogenic; Diffuse cerebellar atrophy | GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGC... | GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGC... |
Task1_train_13529 | Located on Chromosome 9, this mutation impacts PMPCA (peptidase, mitochondrial processing subunit alpha). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Severe global developmental delay | GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGC... | GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGC... |
Task1_train_13530 | Here is a variant affecting PMPCA (peptidase, mitochondrial processing subunit alpha) on Chromosome 9. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Chronic lactic acidosis | GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGC... | GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGC... |
Task1_train_13531 | Gene PMPCA (peptidase, mitochondrial processing subunit alpha), found on Chromosome 9, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Failure to thrive | GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGC... | GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGC... |
Task1_train_13532 | The gene PMPCA (peptidase, mitochondrial processing subunit alpha), on Chromosome 9, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Normal pressure hydrocephalus | GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGC... | GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGC... |
Task1_train_13533 | This alteration occurs within gene PMPCA (peptidase, mitochondrial processing subunit alpha) located on Chromosome 9. Is it associated with a disease or is it a benign variant? | Pathogenic; Autosomal recessive spinocerebellar ataxia 2 | GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCC... | GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCC... |
Task1_train_13534 | A mutation found in PMPCA (peptidase, mitochondrial processing subunit alpha) on Chromosome 9 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Global brain atrophy | GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCC... | GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCC... |
Task1_train_13535 | A variant was discovered on Chromosome 9, affecting PMPCA (peptidase, mitochondrial processing subunit alpha). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Bilateral ptosis | GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCC... | GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCC... |
Task1_train_13536 | This variant affects the gene PMPCA (peptidase, mitochondrial processing subunit alpha) found on Chromosome 9. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hypoventilation | GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCC... | GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCC... |
Task1_train_13537 | This genomic variant is located on Chromosome 9, within the PMPCA (peptidase, mitochondrial processing subunit alpha) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Blindness | GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCC... | GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCC... |
Task1_train_13538 | Given this context: Chromosome 9, gene PMPCA (peptidase, mitochondrial processing subunit alpha) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Restrictive external ophthalmoplegia | GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCC... | GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCC... |
Task1_train_13539 | A mutation found in PMPCA (peptidase, mitochondrial processing subunit alpha) on Chromosome 9 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Infantile muscular hypotonia | GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCC... | GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCC... |
Task1_train_13540 | A variant was discovered on Chromosome 9, affecting PMPCA (peptidase, mitochondrial processing subunit alpha). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Optic atrophy | GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCC... | GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCC... |
Task1_train_13541 | This genomic variant is located on Chromosome 9, within the PMPCA (peptidase, mitochondrial processing subunit alpha) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Hypertrophic cardiomyopathy | GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCC... | GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCC... |
Task1_train_13542 | The gene PMPCA (peptidase, mitochondrial processing subunit alpha) is located on Chromosome 9, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Diffuse cerebellar atrophy | GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCC... | GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCC... |
Task1_train_13543 | Gene PMPCA (peptidase, mitochondrial processing subunit alpha) on Chromosome 9 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Severe global developmental delay | GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCC... | GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCC... |
Task1_train_13544 | The following genetic variant occurs in PMPCA (peptidase, mitochondrial processing subunit alpha) on Chromosome 9. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Chronic lactic acidosis | GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCC... | GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCC... |
Task1_train_13545 | This variant affects the gene PMPCA (peptidase, mitochondrial processing subunit alpha) found on Chromosome 9. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Failure to thrive | GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCC... | GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCC... |
Task1_train_13546 | This genomic variant is located on Chromosome 9, within the PMPCA (peptidase, mitochondrial processing subunit alpha) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Normal pressure hydrocephalus | GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCC... | GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCC... |
Task1_train_13547 | This mutation is located in gene PMPCA (peptidase, mitochondrial processing subunit alpha) on Chromosome 9. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Autosomal recessive spinocerebellar ataxia 2 | TCCCCGATTTTGCCGTGTGGCCACTTTGGGGCCCTGGCATTTGGGAGTTAACTATTTTACCTTCTCCCGCTGCATGTCACACAGACAATGAAGAACTCAAGGGAGGCACATTGCTCCTGTATTTCAAGTGTGGTAGAAGCCGGGTAACACGTAGCACAGCCCTTCCCTAAAAAACCTGAAGGGGAGACCAGCAGGGTTGCCTGTGACTTGGGCCTGGGTTCCCGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTGGGCTCACTGCAAGCTCCGCCTC... | TCCCCGATTTTGCCGTGTGGCCACTTTGGGGCCCTGGCATTTGGGAGTTAACTATTTTACCTTCTCCCGCTGCATGTCACACAGACAATGAAGAACTCAAGGGAGGCACATTGCTCCTGTATTTCAAGTGTGGTAGAAGCCGGGTAACACGTAGCACAGCCCTTCCCTAAAAAACCTGAAGGGGAGACCAGCAGGGTTGCCTGTGACTTGGGCCTGGGTTCCCGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTGGGCTCACTGCAAGCTCCGCCTC... |
Task1_train_13548 | The variant affects gene INPP5E (inositol polyphosphate-5-phosphatase E), which is on Chromosome 9. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Familial aplasia of the vermis | ATGCAGGGGTGGTCGCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATTTGCCCACCACTCAGATGATCCATCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGAGTGAGCCACCGCACCCAGCCGAATGTAGGATTTTAAAGATAGCAGAGATGAACCGGACAAGATCATAGTCAGCTGTTGAGGGTTGAGACCAAACTTTTTGCCTGTGGATTTTACAGCCTTTCAAACAAGGACATTGTGAGAACGGGATATGCATGTATATTGTTGCTTCCAGGTTTCAGTCTTTGGCCAGAAAGAGATTTTAA... | ATGCAGGGGTGGTCGCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATTTGCCCACCACTCAGATGATCCATCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGAGTGAGCCACCGCACCCAGCCGAATGTAGGATTTTAAAGATAGCAGAGATGAACCGGACAAGATCATAGTCAGCTGTTGAGGGTTGAGACCAAACTTTTTGCCTGTGGATTTTACAGCCTTTCAAACAAGGACATTGTGAGAACGGGATATGCATGTATATTGTTGCTTCCAGGTTTCAGTCTTTGGCCAGAAAGAGATTTTAA... |
Task1_train_13549 | Here is a genetic alteration in INPP5E (inositol polyphosphate-5-phosphatase E) on Chromosome 9. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Joubert syndrome 1 | CGAACTCCTGACCTTGTGATTTGCCCACCACTCAGATGATCCATCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGAGTGAGCCACCGCACCCAGCCGAATGTAGGATTTTAAAGATAGCAGAGATGAACCGGACAAGATCATAGTCAGCTGTTGAGGGTTGAGACCAAACTTTTTGCCTGTGGATTTTACAGCCTTTCAAACAAGGACATTGTGAGAACGGGATATGCATGTATATTGTTGCTTCCAGGTTTCAGTCTTTGGCCAGAAAGAGATTTTAAGACTCAATATATGCATTTATTTAAAAATATAAATATGG... | CGAACTCCTGACCTTGTGATTTGCCCACCACTCAGATGATCCATCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGAGTGAGCCACCGCACCCAGCCGAATGTAGGATTTTAAAGATAGCAGAGATGAACCGGACAAGATCATAGTCAGCTGTTGAGGGTTGAGACCAAACTTTTTGCCTGTGGATTTTACAGCCTTTCAAACAAGGACATTGTGAGAACGGGATATGCATGTATATTGTTGCTTCCAGGTTTCAGTCTTTGGCCAGAAAGAGATTTTAAGACTCAATATATGCATTTATTTAAAAATATAAATATGG... |
Task1_train_13550 | This sequence change occurs on Chromosome 9, altering INPP5E (inositol polyphosphate-5-phosphatase E). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Joubert syndrome and related disorders | CGAACTCCTGACCTTGTGATTTGCCCACCACTCAGATGATCCATCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGAGTGAGCCACCGCACCCAGCCGAATGTAGGATTTTAAAGATAGCAGAGATGAACCGGACAAGATCATAGTCAGCTGTTGAGGGTTGAGACCAAACTTTTTGCCTGTGGATTTTACAGCCTTTCAAACAAGGACATTGTGAGAACGGGATATGCATGTATATTGTTGCTTCCAGGTTTCAGTCTTTGGCCAGAAAGAGATTTTAAGACTCAATATATGCATTTATTTAAAAATATAAATATGG... | CGAACTCCTGACCTTGTGATTTGCCCACCACTCAGATGATCCATCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGAGTGAGCCACCGCACCCAGCCGAATGTAGGATTTTAAAGATAGCAGAGATGAACCGGACAAGATCATAGTCAGCTGTTGAGGGTTGAGACCAAACTTTTTGCCTGTGGATTTTACAGCCTTTCAAACAAGGACATTGTGAGAACGGGATATGCATGTATATTGTTGCTTCCAGGTTTCAGTCTTTGGCCAGAAAGAGATTTTAAGACTCAATATATGCATTTATTTAAAAATATAAATATGG... |
Task1_train_13551 | Gene INPP5E (inositol polyphosphate-5-phosphatase E), found on Chromosome 9, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Joubert syndrome 1 | AGGCCTCCTCGCCCCATGGCAGGCGACTTGCAGCCAAGTGGAGGGGAACCGTGCCACGTCCTGGAGGCTGTGTGGCTTCCTCAGCTGGGCTCTGGGGCCCACTCAGAGGTCTGAGGCCCCAGGGGTCACCTAGCCCAGATCCAGCCTTGCTCTGGATACCCGTGTGACATGGGGTGGTGTGTGTTTGAGGGGCTGCCAGGAGGACACAGATGGACGCCTGCTTCGGGTGTGGAGGGAGAGGCTGGTGCAGAGCACGGGGGTGTTGGGGGGCTCTGTGACTGCCCCCAGGGCACAGGAGCTGCTCAGGAACGGATTCTGAC... | AGGCCTCCTCGCCCCATGGCAGGCGACTTGCAGCCAAGTGGAGGGGAACCGTGCCACGTCCTGGAGGCTGTGTGGCTTCCTCAGCTGGGCTCTGGGGCCCACTCAGAGGTCTGAGGCCCCAGGGGTCACCTAGCCCAGATCCAGCCTTGCTCTGGATACCCGTGTGACATGGGGTGGTGTGTGTTTGAGGGGCTGCCAGGAGGACACAGATGGACGCCTGCTTCGGGTGTGGAGGGAGAGGCTGGTGCAGAGCACGGGGGTGTTGGGGGGCTCTGTGACTGCCCCCAGGGCACAGGAGCTGCTCAGGAACGGATTCTGAC... |
Task1_train_13552 | A variant has been detected on Chromosome 9 in INPP5E (inositol polyphosphate-5-phosphatase E). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; MORM syndrome | AGGCCTCCTCGCCCCATGGCAGGCGACTTGCAGCCAAGTGGAGGGGAACCGTGCCACGTCCTGGAGGCTGTGTGGCTTCCTCAGCTGGGCTCTGGGGCCCACTCAGAGGTCTGAGGCCCCAGGGGTCACCTAGCCCAGATCCAGCCTTGCTCTGGATACCCGTGTGACATGGGGTGGTGTGTGTTTGAGGGGCTGCCAGGAGGACACAGATGGACGCCTGCTTCGGGTGTGGAGGGAGAGGCTGGTGCAGAGCACGGGGGTGTTGGGGGGCTCTGTGACTGCCCCCAGGGCACAGGAGCTGCTCAGGAACGGATTCTGAC... | AGGCCTCCTCGCCCCATGGCAGGCGACTTGCAGCCAAGTGGAGGGGAACCGTGCCACGTCCTGGAGGCTGTGTGGCTTCCTCAGCTGGGCTCTGGGGCCCACTCAGAGGTCTGAGGCCCCAGGGGTCACCTAGCCCAGATCCAGCCTTGCTCTGGATACCCGTGTGACATGGGGTGGTGTGTGTTTGAGGGGCTGCCAGGAGGACACAGATGGACGCCTGCTTCGGGTGTGGAGGGAGAGGCTGGTGCAGAGCACGGGGGTGTTGGGGGGCTCTGTGACTGCCCCCAGGGCACAGGAGCTGCTCAGGAACGGATTCTGAC... |
Task1_train_13553 | Here is a genetic alteration in INPP5E (inositol polyphosphate-5-phosphatase E) on Chromosome 9. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Familial aplasia of the vermis | AGGCCTCCTCGCCCCATGGCAGGCGACTTGCAGCCAAGTGGAGGGGAACCGTGCCACGTCCTGGAGGCTGTGTGGCTTCCTCAGCTGGGCTCTGGGGCCCACTCAGAGGTCTGAGGCCCCAGGGGTCACCTAGCCCAGATCCAGCCTTGCTCTGGATACCCGTGTGACATGGGGTGGTGTGTGTTTGAGGGGCTGCCAGGAGGACACAGATGGACGCCTGCTTCGGGTGTGGAGGGAGAGGCTGGTGCAGAGCACGGGGGTGTTGGGGGGCTCTGTGACTGCCCCCAGGGCACAGGAGCTGCTCAGGAACGGATTCTGAC... | AGGCCTCCTCGCCCCATGGCAGGCGACTTGCAGCCAAGTGGAGGGGAACCGTGCCACGTCCTGGAGGCTGTGTGGCTTCCTCAGCTGGGCTCTGGGGCCCACTCAGAGGTCTGAGGCCCCAGGGGTCACCTAGCCCAGATCCAGCCTTGCTCTGGATACCCGTGTGACATGGGGTGGTGTGTGTTTGAGGGGCTGCCAGGAGGACACAGATGGACGCCTGCTTCGGGTGTGGAGGGAGAGGCTGGTGCAGAGCACGGGGGTGTTGGGGGGCTCTGTGACTGCCCCCAGGGCACAGGAGCTGCTCAGGAACGGATTCTGAC... |
Task1_train_13554 | This is a variant in INPP5E (inositol polyphosphate-5-phosphatase E), located on Chromosome 9. Is this mutation a likely cause of disease or not? | Pathogenic; Joubert syndrome and related disorders | AGGCCTCCTCGCCCCATGGCAGGCGACTTGCAGCCAAGTGGAGGGGAACCGTGCCACGTCCTGGAGGCTGTGTGGCTTCCTCAGCTGGGCTCTGGGGCCCACTCAGAGGTCTGAGGCCCCAGGGGTCACCTAGCCCAGATCCAGCCTTGCTCTGGATACCCGTGTGACATGGGGTGGTGTGTGTTTGAGGGGCTGCCAGGAGGACACAGATGGACGCCTGCTTCGGGTGTGGAGGGAGAGGCTGGTGCAGAGCACGGGGGTGTTGGGGGGCTCTGTGACTGCCCCCAGGGCACAGGAGCTGCTCAGGAACGGATTCTGAC... | AGGCCTCCTCGCCCCATGGCAGGCGACTTGCAGCCAAGTGGAGGGGAACCGTGCCACGTCCTGGAGGCTGTGTGGCTTCCTCAGCTGGGCTCTGGGGCCCACTCAGAGGTCTGAGGCCCCAGGGGTCACCTAGCCCAGATCCAGCCTTGCTCTGGATACCCGTGTGACATGGGGTGGTGTGTGTTTGAGGGGCTGCCAGGAGGACACAGATGGACGCCTGCTTCGGGTGTGGAGGGAGAGGCTGGTGCAGAGCACGGGGGTGTTGGGGGGCTCTGTGACTGCCCCCAGGGCACAGGAGCTGCTCAGGAACGGATTCTGAC... |
Task1_train_13555 | Given a variant located on Chromosome 9 and affecting INPP5E (inositol polyphosphate-5-phosphatase E), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Familial aplasia of the vermis | GGGCGTTAGGAGGGGGCCGGCCCCGGAGGAGGGGGCATTTAAGAGGACACCCAGGGCCAGGATGAGGGGCTGTTAGGTGGGCACTGGCCCAGATTGGCCCTGCCTCTAAGCACACGGAGGCCTGTTCCTGGGACAGAGCCGCAGGAAGGACAGGGCGGATGCCTGAGTGCTTAAGGCCTTCGTCCCTCCAGCTGGCCACACCCAGCCCCCCAGCTGGGCCTCTCTTCACTTTCCAGAGCCTCTCCCCTTCCTGCCTTCTCCTGCTCCAGGATGAGTCCAACCGATCCCGGGGAACACAGCCCTGAAGGTCCCAGAACAAA... | GGGCGTTAGGAGGGGGCCGGCCCCGGAGGAGGGGGCATTTAAGAGGACACCCAGGGCCAGGATGAGGGGCTGTTAGGTGGGCACTGGCCCAGATTGGCCCTGCCTCTAAGCACACGGAGGCCTGTTCCTGGGACAGAGCCGCAGGAAGGACAGGGCGGATGCCTGAGTGCTTAAGGCCTTCGTCCCTCCAGCTGGCCACACCCAGCCCCCCAGCTGGGCCTCTCTTCACTTTCCAGAGCCTCTCCCCTTCCTGCCTTCTCCTGCTCCAGGATGAGTCCAACCGATCCCGGGGAACACAGCCCTGAAGGTCCCAGAACAAA... |
Task1_train_13556 | A variant found in Chromosome 9 affects INPP5E (inositol polyphosphate-5-phosphatase E). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not specified | GGGCGTTAGGAGGGGGCCGGCCCCGGAGGAGGGGGCATTTAAGAGGACACCCAGGGCCAGGATGAGGGGCTGTTAGGTGGGCACTGGCCCAGATTGGCCCTGCCTCTAAGCACACGGAGGCCTGTTCCTGGGACAGAGCCGCAGGAAGGACAGGGCGGATGCCTGAGTGCTTAAGGCCTTCGTCCCTCCAGCTGGCCACACCCAGCCCCCCAGCTGGGCCTCTCTTCACTTTCCAGAGCCTCTCCCCTTCCTGCCTTCTCCTGCTCCAGGATGAGTCCAACCGATCCCGGGGAACACAGCCCTGAAGGTCCCAGAACAAA... | GGGCGTTAGGAGGGGGCCGGCCCCGGAGGAGGGGGCATTTAAGAGGACACCCAGGGCCAGGATGAGGGGCTGTTAGGTGGGCACTGGCCCAGATTGGCCCTGCCTCTAAGCACACGGAGGCCTGTTCCTGGGACAGAGCCGCAGGAAGGACAGGGCGGATGCCTGAGTGCTTAAGGCCTTCGTCCCTCCAGCTGGCCACACCCAGCCCCCCAGCTGGGCCTCTCTTCACTTTCCAGAGCCTCTCCCCTTCCTGCCTTCTCCTGCTCCAGGATGAGTCCAACCGATCCCGGGGAACACAGCCCTGAAGGTCCCAGAACAAA... |
Task1_train_13557 | A variant found in Chromosome 9 affects INPP5E (inositol polyphosphate-5-phosphatase E). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Joubert syndrome 1 | AGCCTTCTGGGACCCCTGACACTCATGCCCATTTTGTTGCCTGGCGTCTGTGGCCAGCTGGGCCAGGGCCTGTCCCTCGCCGCTGGAGAGACCCTGTGGACAGCGGCTGCTCCTACCCTGCCCTGCCTCAGTGGCTTCTTGAGGCTTCCAGCAGATATCCAGATATCGGGACATGCCCAGAGATGCAGCCATGGGCCTGGCAGGAGGGTGAGCGAGGGTGCAACGGGCAGAGGGCAGAGGCTCTGCAGGCCGGAGGCGAGGGCATGGCTGGTGCCCTGTGTGCCAGCCGGCTCACCCAGCCTTGAAAACACCCATGGAGA... | AGCCTTCTGGGACCCCTGACACTCATGCCCATTTTGTTGCCTGGCGTCTGTGGCCAGCTGGGCCAGGGCCTGTCCCTCGCCGCTGGAGAGACCCTGTGGACAGCGGCTGCTCCTACCCTGCCCTGCCTCAGTGGCTTCTTGAGGCTTCCAGCAGATATCCAGATATCGGGACATGCCCAGAGATGCAGCCATGGGCCTGGCAGGAGGGTGAGCGAGGGTGCAACGGGCAGAGGGCAGAGGCTCTGCAGGCCGGAGGCGAGGGCATGGCTGGTGCCCTGTGTGCCAGCCGGCTCACCCAGCCTTGAAAACACCCATGGAGA... |
Task1_train_13558 | This sequence variant lies in INPP5E (inositol polyphosphate-5-phosphatase E) on Chromosome 9. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Familial aplasia of the vermis | AGCCTTCTGGGACCCCTGACACTCATGCCCATTTTGTTGCCTGGCGTCTGTGGCCAGCTGGGCCAGGGCCTGTCCCTCGCCGCTGGAGAGACCCTGTGGACAGCGGCTGCTCCTACCCTGCCCTGCCTCAGTGGCTTCTTGAGGCTTCCAGCAGATATCCAGATATCGGGACATGCCCAGAGATGCAGCCATGGGCCTGGCAGGAGGGTGAGCGAGGGTGCAACGGGCAGAGGGCAGAGGCTCTGCAGGCCGGAGGCGAGGGCATGGCTGGTGCCCTGTGTGCCAGCCGGCTCACCCAGCCTTGAAAACACCCATGGAGA... | AGCCTTCTGGGACCCCTGACACTCATGCCCATTTTGTTGCCTGGCGTCTGTGGCCAGCTGGGCCAGGGCCTGTCCCTCGCCGCTGGAGAGACCCTGTGGACAGCGGCTGCTCCTACCCTGCCCTGCCTCAGTGGCTTCTTGAGGCTTCCAGCAGATATCCAGATATCGGGACATGCCCAGAGATGCAGCCATGGGCCTGGCAGGAGGGTGAGCGAGGGTGCAACGGGCAGAGGGCAGAGGCTCTGCAGGCCGGAGGCGAGGGCATGGCTGGTGCCCTGTGTGCCAGCCGGCTCACCCAGCCTTGAAAACACCCATGGAGA... |
Task1_train_13559 | A genetic alteration is present in INPP5E (inositol polyphosphate-5-phosphatase E) on Chromosome 9. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Familial aplasia of the vermis | TTCCCGGCTGTGGGAGATGCCTGCCCTGGAAGCACTCTGCACCGCAGCGGTGGGCAGGCCTCACCGTGTATGAGGGCGTCCTCTGCTTGGAGGTGCTGTCGTACGTGTCCTTCCCGATGTCAAACTTGTATGATGGGAGGAAGTGGATGTCCGGCTCCTGGAAGCCCTTGAAGATGGACCCTGCCACAGGATGGGCACTCGGACTGGCTCAGACCAGCTTGTGCCAGCCGCCGCACCCCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGC... | TTCCCGGCTGTGGGAGATGCCTGCCCTGGAAGCACTCTGCACCGCAGCGGTGGGCAGGCCTCACCGTGTATGAGGGCGTCCTCTGCTTGGAGGTGCTGTCGTACGTGTCCTTCCCGATGTCAAACTTGTATGATGGGAGGAAGTGGATGTCCGGCTCCTGGAAGCCCTTGAAGATGGACCCTGCCACAGGATGGGCACTCGGACTGGCTCAGACCAGCTTGTGCCAGCCGCCGCACCCCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGC... |
Task1_train_13560 | Chromosome 9 houses a mutation in gene INPP5E (inositol polyphosphate-5-phosphatase E). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Familial aplasia of the vermis | ACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCC... | ACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCC... |
Task1_train_13561 | This alteration occurs within gene INPP5E (inositol polyphosphate-5-phosphatase E) located on Chromosome 9. Is it associated with a disease or is it a benign variant? | Pathogenic; Familial aplasia of the vermis | AGTGGGTCTTGGGCGCCAGCCGGTGGGGCCGGGCCCTCAGGGGTGGGATTCGCACTGGGACAGTTCCAGAAGGCACCTGGAGCAGCCTCAGGAGCAGACGATGCCCATGGCAGGCGATGGCCACGTCCCTGCTCCTCTCCACACAGCCAGGGGAGGCGGCGGGGCGGGCAGTGGCGAGGACCAGGACCCAGGCTAGTGGGCCACGCCGAGTGGACAGGATCCGCCCACCCCACTAACCGTGCTAAAGAACCGCGAGGGGCCATGCGCTGGGGGCACTGGACGTTTCGGCCCTCGCTTCCCAAAGCTCAGGACGCTGCCTC... | AGTGGGTCTTGGGCGCCAGCCGGTGGGGCCGGGCCCTCAGGGGTGGGATTCGCACTGGGACAGTTCCAGAAGGCACCTGGAGCAGCCTCAGGAGCAGACGATGCCCATGGCAGGCGATGGCCACGTCCCTGCTCCTCTCCACACAGCCAGGGGAGGCGGCGGGGCGGGCAGTGGCGAGGACCAGGACCCAGGCTAGTGGGCCACGCCGAGTGGACAGGATCCGCCCACCCCACTAACCGTGCTAAAGAACCGCGAGGGGCCATGCGCTGGGGGCACTGGACGTTTCGGCCCTCGCTTCCCAAAGCTCAGGACGCTGCCTC... |
Task1_train_13562 | Mutation context: Chromosome 9, Gene INPP5E (inositol polyphosphate-5-phosphatase E). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Familial aplasia of the vermis | GCACGGGCCCAGCACGGCACGCCCTCGGTGCCGGGGTCTGCCGGGGGTCCTTGGCGTGCATCTTAGCAAGCGTGGTGCCCACCCCACGGCCCTGGGTGGAAGATGAAGCCAGCGGTCAGGACCCCTGCCTTGGACAGGGTCCCGGTCAGGAGAGGAAGCTGTTCTCACACAGCACCTGCGGTGCGGGCACCAAGCAACTTACAGGTGAAGTGGGACGTGATGAAGAGGAAGGAAGTGCCAAAAAAGGTGAAGCTGATGCCCAAGGCCCCCTTGGTCTTGATCTGAGACACGATGCGTGTGGTCACCGTGGAGCACTCCAC... | GCACGGGCCCAGCACGGCACGCCCTCGGTGCCGGGGTCTGCCGGGGGTCCTTGGCGTGCATCTTAGCAAGCGTGGTGCCCACCCCACGGCCCTGGGTGGAAGATGAAGCCAGCGGTCAGGACCCCTGCCTTGGACAGGGTCCCGGTCAGGAGAGGAAGCTGTTCTCACACAGCACCTGCGGTGCGGGCACCAAGCAACTTACAGGTGAAGTGGGACGTGATGAAGAGGAAGGAAGTGCCAAAAAAGGTGAAGCTGATGCCCAAGGCCCCCTTGGTCTTGATCTGAGACACGATGCGTGTGGTCACCGTGGAGCACTCCAC... |
Task1_train_13563 | Consider a variant on Chromosome 9 in gene INPP5E (inositol polyphosphate-5-phosphatase E). Determine its clinical classification and disease relevance. | Pathogenic; Joubert syndrome 1 | GCACGGGCCCAGCACGGCACGCCCTCGGTGCCGGGGTCTGCCGGGGGTCCTTGGCGTGCATCTTAGCAAGCGTGGTGCCCACCCCACGGCCCTGGGTGGAAGATGAAGCCAGCGGTCAGGACCCCTGCCTTGGACAGGGTCCCGGTCAGGAGAGGAAGCTGTTCTCACACAGCACCTGCGGTGCGGGCACCAAGCAACTTACAGGTGAAGTGGGACGTGATGAAGAGGAAGGAAGTGCCAAAAAAGGTGAAGCTGATGCCCAAGGCCCCCTTGGTCTTGATCTGAGACACGATGCGTGTGGTCACCGTGGAGCACTCCAC... | GCACGGGCCCAGCACGGCACGCCCTCGGTGCCGGGGTCTGCCGGGGGTCCTTGGCGTGCATCTTAGCAAGCGTGGTGCCCACCCCACGGCCCTGGGTGGAAGATGAAGCCAGCGGTCAGGACCCCTGCCTTGGACAGGGTCCCGGTCAGGAGAGGAAGCTGTTCTCACACAGCACCTGCGGTGCGGGCACCAAGCAACTTACAGGTGAAGTGGGACGTGATGAAGAGGAAGGAAGTGCCAAAAAAGGTGAAGCTGATGCCCAAGGCCCCCTTGGTCTTGATCTGAGACACGATGCGTGTGGTCACCGTGGAGCACTCCAC... |
Task1_train_13564 | This is a variant in INPP5E (inositol polyphosphate-5-phosphatase E), located on Chromosome 9. Is this mutation a likely cause of disease or not? | Pathogenic; MORM syndrome | GCACGGGCCCAGCACGGCACGCCCTCGGTGCCGGGGTCTGCCGGGGGTCCTTGGCGTGCATCTTAGCAAGCGTGGTGCCCACCCCACGGCCCTGGGTGGAAGATGAAGCCAGCGGTCAGGACCCCTGCCTTGGACAGGGTCCCGGTCAGGAGAGGAAGCTGTTCTCACACAGCACCTGCGGTGCGGGCACCAAGCAACTTACAGGTGAAGTGGGACGTGATGAAGAGGAAGGAAGTGCCAAAAAAGGTGAAGCTGATGCCCAAGGCCCCCTTGGTCTTGATCTGAGACACGATGCGTGTGGTCACCGTGGAGCACTCCAC... | GCACGGGCCCAGCACGGCACGCCCTCGGTGCCGGGGTCTGCCGGGGGTCCTTGGCGTGCATCTTAGCAAGCGTGGTGCCCACCCCACGGCCCTGGGTGGAAGATGAAGCCAGCGGTCAGGACCCCTGCCTTGGACAGGGTCCCGGTCAGGAGAGGAAGCTGTTCTCACACAGCACCTGCGGTGCGGGCACCAAGCAACTTACAGGTGAAGTGGGACGTGATGAAGAGGAAGGAAGTGCCAAAAAAGGTGAAGCTGATGCCCAAGGCCCCCTTGGTCTTGATCTGAGACACGATGCGTGTGGTCACCGTGGAGCACTCCAC... |
Task1_train_13565 | Here is a variant affecting NOTCH1 (notch receptor 1) on Chromosome 9. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Early T cell progenitor acute lymphoblastic leukemia | TTCTTTAAAAAAAGCCGTAATGATTTTGAAATAATACCCAACAAAGAAAATTCAGGAGGAAAGGGTGGGGAGAGAAGCAGGCACCCACTTTCCCGTGGCTGGACTCGTTCCCAGGTGGCTCCACCGGCAGCTGTGACCGCCGCAGGTGGGGGCGGAGTGCCATTCAGAAAATTCCAGAAAAGCCCTACCCCAACTCGGACGGCAACGCTCACACCCGTGGGTAGCAACTGGCACAAACAGCCAGCGTGTCTGGGGCACGGGGGGATGGCACCCCCTGCAGGCAGAGCCTGTTCCCGGGATGGGGCCACACTTACTCTGCA... | TTCTTTAAAAAAAGCCGTAATGATTTTGAAATAATACCCAACAAAGAAAATTCAGGAGGAAAGGGTGGGGAGAGAAGCAGGCACCCACTTTCCCGTGGCTGGACTCGTTCCCAGGTGGCTCCACCGGCAGCTGTGACCGCCGCAGGTGGGGGCGGAGTGCCATTCAGAAAATTCCAGAAAAGCCCTACCCCAACTCGGACGGCAACGCTCACACCCGTGGGTAGCAACTGGCACAAACAGCCAGCGTGTCTGGGGCACGGGGGGATGGCACCCCCTGCAGGCAGAGCCTGTTCCCGGGATGGGGCCACACTTACTCTGCA... |
Task1_train_13566 | Gene NOTCH1 (notch receptor 1) on Chromosome 9 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CCGAGGCTTCCTCCTCCCCCGCCCACCGGCCAGGGATGCTGCCGCAGGACACTGAGGCCCATGACGCCACAGTCAGGACATGGTGAGGCAGCCTGGGGTGGTGGGAAGCCAGGTCTGACAGCAGCTACCCTGCAGGGGACTGGTGCCAGCCCCCCGACTCCGGCCAGTGCTGATCACGGCTCATCCCAGATACCCACCAACGCGCTCTCCCTGGCCCGCCCTGACACCCTCTCTGGCTCCTGCTGGTGCCACAGACACGTTTCCTCATCTCAGGACAGAGTATGTGCCAGGAGCCCAGTCCTCCCCCAGGAGCCATCCCC... | CCGAGGCTTCCTCCTCCCCCGCCCACCGGCCAGGGATGCTGCCGCAGGACACTGAGGCCCATGACGCCACAGTCAGGACATGGTGAGGCAGCCTGGGGTGGTGGGAAGCCAGGTCTGACAGCAGCTACCCTGCAGGGGACTGGTGCCAGCCCCCCGACTCCGGCCAGTGCTGATCACGGCTCATCCCAGATACCCACCAACGCGCTCTCCCTGGCCCGCCCTGACACCCTCTCTGGCTCCTGCTGGTGCCACAGACACGTTTCCTCATCTCAGGACAGAGTATGTGCCAGGAGCCCAGTCCTCCCCCAGGAGCCATCCCC... |
Task1_train_13567 | A variant on Chromosome 9 in gene NOTCH1 (notch receptor 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Adams-Oliver syndrome 5 | CCGAGGCTTCCTCCTCCCCCGCCCACCGGCCAGGGATGCTGCCGCAGGACACTGAGGCCCATGACGCCACAGTCAGGACATGGTGAGGCAGCCTGGGGTGGTGGGAAGCCAGGTCTGACAGCAGCTACCCTGCAGGGGACTGGTGCCAGCCCCCCGACTCCGGCCAGTGCTGATCACGGCTCATCCCAGATACCCACCAACGCGCTCTCCCTGGCCCGCCCTGACACCCTCTCTGGCTCCTGCTGGTGCCACAGACACGTTTCCTCATCTCAGGACAGAGTATGTGCCAGGAGCCCAGTCCTCCCCCAGGAGCCATCCCC... | CCGAGGCTTCCTCCTCCCCCGCCCACCGGCCAGGGATGCTGCCGCAGGACACTGAGGCCCATGACGCCACAGTCAGGACATGGTGAGGCAGCCTGGGGTGGTGGGAAGCCAGGTCTGACAGCAGCTACCCTGCAGGGGACTGGTGCCAGCCCCCCGACTCCGGCCAGTGCTGATCACGGCTCATCCCAGATACCCACCAACGCGCTCTCCCTGGCCCGCCCTGACACCCTCTCTGGCTCCTGCTGGTGCCACAGACACGTTTCCTCATCTCAGGACAGAGTATGTGCCAGGAGCCCAGTCCTCCCCCAGGAGCCATCCCC... |
Task1_train_13568 | Here’s a variant in NOTCH1 (notch receptor 1) located on Chromosome 9. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Adams-Oliver syndrome 5 | GCTGTTGGTAACAATGTATCACTGAAATCCAGAGTGAAATTGATGCAAGCTGCTAACCAGGGGAACTGCGTGCAGGGGACAGCCACCCCAGGGAGTCTACTTCCTGCTCCATTTTTCTATAAATCTAAAATGTCTCTAAAATCATTTATTGAAACTAAAAAAAAAAAAAAGACATCAGGGTGAGGAGGAGGATGAAGGCCGGGAGGATCACTGCCCGGTCTGCGCCCCGAGGCCCCCACGTGGACCTCTCCAGGTGTCTCCCCTGGCGGGCCCCTGCCTCCCTGCACCCCTGCACCTACCGCAGGGCACTTGCAGATGAA... | GCTGTTGGTAACAATGTATCACTGAAATCCAGAGTGAAATTGATGCAAGCTGCTAACCAGGGGAACTGCGTGCAGGGGACAGCCACCCCAGGGAGTCTACTTCCTGCTCCATTTTTCTATAAATCTAAAATGTCTCTAAAATCATTTATTGAAACTAAAAAAAAAAAAAAGACATCAGGGTGAGGAGGAGGATGAAGGCCGGGAGGATCACTGCCCGGTCTGCGCCCCGAGGCCCCCACGTGGACCTCTCCAGGTGTCTCCCCTGGCGGGCCCCTGCCTCCCTGCACCCCTGCACCTACCGCAGGGCACTTGCAGATGAA... |
Task1_train_13569 | This sequence change occurs on Chromosome 9, altering NOTCH1 (notch receptor 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Adams-Oliver syndrome 5 | CTGAGCTCCTGCCCCGGCTCCAGAAACCTGGGATTGAAACGAAGGTGCCTGCTGCTTCCGCATCAGGTTCCTTCACCGGCTGCTCAGATCCCCAGAAACCCTCTGCCCGGGGGTGTGGGGGTGACCCCGAGCCGACACAGTGGGACCTGGGGTGACCGTTCCCACCTCCCGCAGGTAGGCACCCACCCAGGGCCCCTCCTTCGGGCACCTCTGTGGCCGGCGCACTCACCTGGCAGTTGGGGCCAGTGTAGCCCTGGGGGCAGGTGCACCTGTAGGAGCCGCAGCCGTCCTGACAGGTGCCGCCATGCAGGCAGGGCTGT... | CTGAGCTCCTGCCCCGGCTCCAGAAACCTGGGATTGAAACGAAGGTGCCTGCTGCTTCCGCATCAGGTTCCTTCACCGGCTGCTCAGATCCCCAGAAACCCTCTGCCCGGGGGTGTGGGGGTGACCCCGAGCCGACACAGTGGGACCTGGGGTGACCGTTCCCACCTCCCGCAGGTAGGCACCCACCCAGGGCCCCTCCTTCGGGCACCTCTGTGGCCGGCGCACTCACCTGGCAGTTGGGGCCAGTGTAGCCCTGGGGGCAGGTGCACCTGTAGGAGCCGCAGCCGTCCTGACAGGTGCCGCCATGCAGGCAGGGCTGT... |
Task1_train_13570 | This sequence change occurs on Chromosome 9, altering NOTCH1 (notch receptor 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Myeloproliferative neoplasm, unclassifiable | GAGACCCCTGAGCGCTCCCGGCTGTGCCAGGACCCTGACCCAGGGAGGAGTGGAGCACAGATGGGGGGACGCTGAAGACAAGCTGCACAAATGTCACGCTCAGAAGCCACCCCTCATTCCCGGTTGGCAGCGGGGCACAGCCTAGGCCTCACCCCACCAGGCGTGCCCAGGAACAAGGACTGCACCAGGAGAGGCGGCCTCAGTCGGGTGGGCTCCACGACACTGCAGGGACCTGGGCCCACCCCGGACGCAAGCCCCCTCATCTCTGGGTGACGAGGAAAGGCCCTGGCCTGAGACCGAGGCCTGAAACTAATCCTGGG... | GAGACCCCTGAGCGCTCCCGGCTGTGCCAGGACCCTGACCCAGGGAGGAGTGGAGCACAGATGGGGGGACGCTGAAGACAAGCTGCACAAATGTCACGCTCAGAAGCCACCCCTCATTCCCGGTTGGCAGCGGGGCACAGCCTAGGCCTCACCCCACCAGGCGTGCCCAGGAACAAGGACTGCACCAGGAGAGGCGGCCTCAGTCGGGTGGGCTCCACGACACTGCAGGGACCTGGGCCCACCCCGGACGCAAGCCCCCTCATCTCTGGGTGACGAGGAAAGGCCCTGGCCTGAGACCGAGGCCTGAAACTAATCCTGGG... |
Task1_train_13571 | This sequence change occurs on Chromosome 9, altering NOTCH1 (notch receptor 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Adams-Oliver syndrome 5 | GAGACCCCTGAGCGCTCCCGGCTGTGCCAGGACCCTGACCCAGGGAGGAGTGGAGCACAGATGGGGGGACGCTGAAGACAAGCTGCACAAATGTCACGCTCAGAAGCCACCCCTCATTCCCGGTTGGCAGCGGGGCACAGCCTAGGCCTCACCCCACCAGGCGTGCCCAGGAACAAGGACTGCACCAGGAGAGGCGGCCTCAGTCGGGTGGGCTCCACGACACTGCAGGGACCTGGGCCCACCCCGGACGCAAGCCCCCTCATCTCTGGGTGACGAGGAAAGGCCCTGGCCTGAGACCGAGGCCTGAAACTAATCCTGGG... | GAGACCCCTGAGCGCTCCCGGCTGTGCCAGGACCCTGACCCAGGGAGGAGTGGAGCACAGATGGGGGGACGCTGAAGACAAGCTGCACAAATGTCACGCTCAGAAGCCACCCCTCATTCCCGGTTGGCAGCGGGGCACAGCCTAGGCCTCACCCCACCAGGCGTGCCCAGGAACAAGGACTGCACCAGGAGAGGCGGCCTCAGTCGGGTGGGCTCCACGACACTGCAGGGACCTGGGCCCACCCCGGACGCAAGCCCCCTCATCTCTGGGTGACGAGGAAAGGCCCTGGCCTGAGACCGAGGCCTGAAACTAATCCTGGG... |
Task1_train_13572 | A variant on Chromosome 9 in gene NOTCH1 (notch receptor 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Adams-Oliver syndrome 5 | CAACCTGAGGAGGGCTCCGAGCGTGGCATTCCCACCTACTCAGGATTGGGGCTGAGCTGTGCTCTCGGCCTCTGGACCAGGTGGCCCAGACCAAGGTGTCCATGACCTTGTCAGTTTCACTGCCCTGAGTGCCCTGTCCCGTCCCCAGTCCCTCCCCGCTGGTGGGCGCCAGCCCGCACCTTCCGTGCACACACAGGTGTAAGTGTTGGGTCCGTCCAGGCACTTGGCACCATTCTTGCAGGGGGTGCTGGCACACTCGTCCACATCGTACTGGCACAGATGCCCAGTGAAGCCTGGGGCCGGGGAGGGGAGGGGAGGGA... | CAACCTGAGGAGGGCTCCGAGCGTGGCATTCCCACCTACTCAGGATTGGGGCTGAGCTGTGCTCTCGGCCTCTGGACCAGGTGGCCCAGACCAAGGTGTCCATGACCTTGTCAGTTTCACTGCCCTGAGTGCCCTGTCCCGTCCCCAGTCCCTCCCCGCTGGTGGGCGCCAGCCCGCACCTTCCGTGCACACACAGGTGTAAGTGTTGGGTCCGTCCAGGCACTTGGCACCATTCTTGCAGGGGGTGCTGGCACACTCGTCCACATCGTACTGGCACAGATGCCCAGTGAAGCCTGGGGCCGGGGAGGGGAGGGGAGGGA... |
Task1_train_13573 | This variant affects gene NOTCH1 (notch receptor 1) located on Chromosome 9. Evaluate its biological effect and specify any disease association. | Pathogenic; Tetralogy of Fallot | AGGAGACAGTGCTGACGTGCCAGGCAGGCTGTGCGACCCCAAATCCCAGCCAGTTCCCGGGCCTGCAGAGCTCAGGGCCGCCCCCATCTCGGTTCCCCGTGACTCCACACACAGCTGTCTCCTGGGCTCCTGACCACCCAGAGGTGGCTGAGGGCCCTTCAGGGGGCCTGGGTGCAGGGGCCGCCGGGGACAGTCTGAAGCTGGGGTCTGGCAGGCCTGAGTCATTTGGGGAGGCCCCCGGATGGTCATCTCACCCTGAAACGGCCAGACTCCACAGCAGGCAGTGAGCACACCCCTCACCGGACGGGTGACCCAGCCCC... | AGGAGACAGTGCTGACGTGCCAGGCAGGCTGTGCGACCCCAAATCCCAGCCAGTTCCCGGGCCTGCAGAGCTCAGGGCCGCCCCCATCTCGGTTCCCCGTGACTCCACACACAGCTGTCTCCTGGGCTCCTGACCACCCAGAGGTGGCTGAGGGCCCTTCAGGGGGCCTGGGTGCAGGGGCCGCCGGGGACAGTCTGAAGCTGGGGTCTGGCAGGCCTGAGTCATTTGGGGAGGCCCCCGGATGGTCATCTCACCCTGAAACGGCCAGACTCCACAGCAGGCAGTGAGCACACCCCTCACCGGACGGGTGACCCAGCCCC... |
Task1_train_13574 | Gene AGPAT2 (1-acylglycerol-3-phosphate O-acyltransferase 2), found on Chromosome 9, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Congenital generalized lipodystrophy type 1 | TCCCTAGACCCCGGTGGAGCAGAGAGGGCGGGGGCCGGCCCAGGGTCACTGCCCTTCTGCACCCACAGAAGCTGCAGCTGGTGCTGGCCCCACTGCACAGCCTGGCCTCGCAGGCACTGGAGCATGGGCTCCCGGACCCCGGCAGCCTCCTGGTGCACTCCTTCCAGCAGCTCGGCCGCATCGACTCCCTGAGCGAGCAGATTTCCTTCCTGGAGGAGCAGCTGGGGTCCTGTGAGTGCCCCCACCCTCCAGAGCCCTCCTCCCGGGTCTGGGCCCAGTGGGCCTAGAGGGGCTACCCAGGCTTGGGGGTCGGGGGCGAC... | TCCCTAGACCCCGGTGGAGCAGAGAGGGCGGGGGCCGGCCCAGGGTCACTGCCCTTCTGCACCCACAGAAGCTGCAGCTGGTGCTGGCCCCACTGCACAGCCTGGCCTCGCAGGCACTGGAGCATGGGCTCCCGGACCCCGGCAGCCTCCTGGTGCACTCCTTCCAGCAGCTCGGCCGCATCGACTCCCTGAGCGAGCAGATTTCCTTCCTGGAGGAGCAGCTGGGGTCCTGTGAGTGCCCCCACCCTCCAGAGCCCTCCTCCCGGGTCTGGGCCCAGTGGGCCTAGAGGGGCTACCCAGGCTTGGGGGTCGGGGGCGAC... |
Task1_train_13575 | The gene AGPAT2 (1-acylglycerol-3-phosphate O-acyltransferase 2) on Chromosome 9 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Congenital generalized lipodystrophy type 1 | AAGCTCATCCTGCAAATTTTTACTCATCTCCTCTAGGAAGCCCTCCTGAGCTAGCACGTGTTTGCCTGGTTCACACCTGTCCCCATATTGGGTCTGCAGCTAGCCAGGGGGGCAGGGCCCTGTCCGGTTTAGGAGGAGATTATGGCACTCTTCCCTGCCCACGCCTCTCTCCCAGTCCTCTCCATCTCAGGAAGCCAGTGAGGGAGGCAGCCCTAGCCCGGGGGAGGGGTGGAGCCTGCTGGTGTTCCTGGAAGTCACCGGGGTCAAATCCAAGGGCACTTGGGGGTGATCATTAACCCGAGGCAGCCAGGGAACCTCCA... | AAGCTCATCCTGCAAATTTTTACTCATCTCCTCTAGGAAGCCCTCCTGAGCTAGCACGTGTTTGCCTGGTTCACACCTGTCCCCATATTGGGTCTGCAGCTAGCCAGGGGGGCAGGGCCCTGTCCGGTTTAGGAGGAGATTATGGCACTCTTCCCTGCCCACGCCTCTCTCCCAGTCCTCTCCATCTCAGGAAGCCAGTGAGGGAGGCAGCCCTAGCCCGGGGGAGGGGTGGAGCCTGCTGGTGTTCCTGGAAGTCACCGGGGTCAAATCCAAGGGCACTTGGGGGTGATCATTAACCCGAGGCAGCCAGGGAACCTCCA... |
Task1_train_13576 | This is a variant in AGPAT2 (1-acylglycerol-3-phosphate O-acyltransferase 2), located on Chromosome 9. Is this mutation a likely cause of disease or not? | Pathogenic; Congenital generalized lipodystrophy | TGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGAAGGGAGGAGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGAGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACCGGGAGCAGGGACGGAAAAGCTGTGGGTCTCCTGGCTGAAGCTGCACTGCGGCCACCCCCAGCCACCCCATCACAGCCGCCCGTCTCCCCTCTGCTCTCCCAGAGCTG... | TGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGAAGGGAGGAGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGAGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACCGGGAGCAGGGACGGAAAAGCTGTGGGTCTCCTGGCTGAAGCTGCACTGCGGCCACCCCCAGCCACCCCATCACAGCCGCCCGTCTCCCCTCTGCTCTCCCAGAGCTG... |
Task1_train_13577 | Gene AGPAT2 (1-acylglycerol-3-phosphate O-acyltransferase 2), found on Chromosome 9, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Congenital generalized lipodystrophy type 1 | AGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGAAGGGAGGAGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGAGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACCGGGAGCAGGGACGGAAAAGCTGTGGGTCTCCTGGCTGAAGCTGCACTGCGGCCACCCCCAGCCACCCCATCACAGCCGCCCGTCTCCCCTCTGCTCTCCCAGAGCTGATCCAGCCCTCACT... | AGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGAAGGGAGGAGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGAGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACCGGGAGCAGGGACGGAAAAGCTGTGGGTCTCCTGGCTGAAGCTGCACTGCGGCCACCCCCAGCCACCCCATCACAGCCGCCCGTCTCCCCTCTGCTCTCCCAGAGCTGATCCAGCCCTCACT... |
Task1_train_13578 | Chromosome 9 houses a mutation in gene MAN1B1 (mannosidase alpha class 1B member 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Inborn genetic diseases | GGCTGGTCTCAAACTTCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAGAGTACTGGGATTACAGGCGGGAGCCACCGTGCCCAGCCAAAAAAATTTAAAAAAAGGGAACGAAGGGACTGTAGCGCGTGTGCACAGTGCGATTCCCGTGGAGCACCTGAAGCCCACGTGGCAGAAGGAGCGTGTTTGAGTCGAGGATGTTCATCGCGAGGTCTGCACCCGTCCGTGTTTCACATTCTGAGTTGGCACCACACTCACCCACGTCTCCACAGGCTGTGCTCACTGTGCTGTCCCAGCGCCCTTGGGGCAGCCACCCTTG... | GGCTGGTCTCAAACTTCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAGAGTACTGGGATTACAGGCGGGAGCCACCGTGCCCAGCCAAAAAAATTTAAAAAAAGGGAACGAAGGGACTGTAGCGCGTGTGCACAGTGCGATTCCCGTGGAGCACCTGAAGCCCACGTGGCAGAAGGAGCGTGTTTGAGTCGAGGATGTTCATCGCGAGGTCTGCACCCGTCCGTGTTTCACATTCTGAGTTGGCACCACACTCACCCACGTCTCCACAGGCTGTGCTCACTGTGCTGTCCCAGCGCCCTTGGGGCAGCCACCCTTG... |
Task1_train_13579 | Here’s a variant in MAN1B1 (mannosidase alpha class 1B member 1) located on Chromosome 9. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; See cases | GGCTGGTCTCAAACTTCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAGAGTACTGGGATTACAGGCGGGAGCCACCGTGCCCAGCCAAAAAAATTTAAAAAAAGGGAACGAAGGGACTGTAGCGCGTGTGCACAGTGCGATTCCCGTGGAGCACCTGAAGCCCACGTGGCAGAAGGAGCGTGTTTGAGTCGAGGATGTTCATCGCGAGGTCTGCACCCGTCCGTGTTTCACATTCTGAGTTGGCACCACACTCACCCACGTCTCCACAGGCTGTGCTCACTGTGCTGTCCCAGCGCCCTTGGGGCAGCCACCCTTG... | GGCTGGTCTCAAACTTCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAGAGTACTGGGATTACAGGCGGGAGCCACCGTGCCCAGCCAAAAAAATTTAAAAAAAGGGAACGAAGGGACTGTAGCGCGTGTGCACAGTGCGATTCCCGTGGAGCACCTGAAGCCCACGTGGCAGAAGGAGCGTGTTTGAGTCGAGGATGTTCATCGCGAGGTCTGCACCCGTCCGTGTTTCACATTCTGAGTTGGCACCACACTCACCCACGTCTCCACAGGCTGTGCTCACTGTGCTGTCCCAGCGCCCTTGGGGCAGCCACCCTTG... |
Task1_train_13580 | A variant found in Chromosome 9 affects MAN1B1 (mannosidase alpha class 1B member 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Rafiq syndrome | GGCTGGTCTCAAACTTCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAGAGTACTGGGATTACAGGCGGGAGCCACCGTGCCCAGCCAAAAAAATTTAAAAAAAGGGAACGAAGGGACTGTAGCGCGTGTGCACAGTGCGATTCCCGTGGAGCACCTGAAGCCCACGTGGCAGAAGGAGCGTGTTTGAGTCGAGGATGTTCATCGCGAGGTCTGCACCCGTCCGTGTTTCACATTCTGAGTTGGCACCACACTCACCCACGTCTCCACAGGCTGTGCTCACTGTGCTGTCCCAGCGCCCTTGGGGCAGCCACCCTTG... | GGCTGGTCTCAAACTTCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAGAGTACTGGGATTACAGGCGGGAGCCACCGTGCCCAGCCAAAAAAATTTAAAAAAAGGGAACGAAGGGACTGTAGCGCGTGTGCACAGTGCGATTCCCGTGGAGCACCTGAAGCCCACGTGGCAGAAGGAGCGTGTTTGAGTCGAGGATGTTCATCGCGAGGTCTGCACCCGTCCGTGTTTCACATTCTGAGTTGGCACCACACTCACCCACGTCTCCACAGGCTGTGCTCACTGTGCTGTCCCAGCGCCCTTGGGGCAGCCACCCTTG... |
Task1_train_13581 | This gene mutation involves MAN1B1 (mannosidase alpha class 1B member 1) on Chromosome 9. Is it associated with any clinical condition, or is it benign? | Pathogenic; MAN1B1-related disorder | GGCTGGTCTCAAACTTCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAGAGTACTGGGATTACAGGCGGGAGCCACCGTGCCCAGCCAAAAAAATTTAAAAAAAGGGAACGAAGGGACTGTAGCGCGTGTGCACAGTGCGATTCCCGTGGAGCACCTGAAGCCCACGTGGCAGAAGGAGCGTGTTTGAGTCGAGGATGTTCATCGCGAGGTCTGCACCCGTCCGTGTTTCACATTCTGAGTTGGCACCACACTCACCCACGTCTCCACAGGCTGTGCTCACTGTGCTGTCCCAGCGCCCTTGGGGCAGCCACCCTTG... | GGCTGGTCTCAAACTTCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAGAGTACTGGGATTACAGGCGGGAGCCACCGTGCCCAGCCAAAAAAATTTAAAAAAAGGGAACGAAGGGACTGTAGCGCGTGTGCACAGTGCGATTCCCGTGGAGCACCTGAAGCCCACGTGGCAGAAGGAGCGTGTTTGAGTCGAGGATGTTCATCGCGAGGTCTGCACCCGTCCGTGTTTCACATTCTGAGTTGGCACCACACTCACCCACGTCTCCACAGGCTGTGCTCACTGTGCTGTCCCAGCGCCCTTGGGGCAGCCACCCTTG... |
Task1_train_13582 | A variant was discovered in gene MAN1B1 (mannosidase alpha class 1B member 1), Chromosome 9. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Rafiq syndrome | TTGCCCCATGGGGGTCACAGCAGTGCTCTGCCTGAGGGTGTCCATCTGTGCCGACGCCAGGACCACGTCCGCCATGGCCTGTGCTCTCTCCCCCCTACTAGTGCATCTGAACTATCGCCAGAAGGGCGTGATTGACGTCTTCCTGCATGCATGGAAAGGATACCGCAAGTTTGCATGGGGCCATGACGAGCTGAAGCCTGTGTCCAGGTCCTTCAGTGAGTGGTTTGGCCTCGGTCTCACACTGATCGACGCGCTGGACACCATGTGGATCTTGGGTCTGAGGAAAGGTACCTGGTGCTTTCTGGGGAGGGGCTGAGCCC... | TTGCCCCATGGGGGTCACAGCAGTGCTCTGCCTGAGGGTGTCCATCTGTGCCGACGCCAGGACCACGTCCGCCATGGCCTGTGCTCTCTCCCCCCTACTAGTGCATCTGAACTATCGCCAGAAGGGCGTGATTGACGTCTTCCTGCATGCATGGAAAGGATACCGCAAGTTTGCATGGGGCCATGACGAGCTGAAGCCTGTGTCCAGGTCCTTCAGTGAGTGGTTTGGCCTCGGTCTCACACTGATCGACGCGCTGGACACCATGTGGATCTTGGGTCTGAGGAAAGGTACCTGGTGCTTTCTGGGGAGGGGCTGAGCCC... |
Task1_train_13583 | Given a variant located on Chromosome 9 and affecting GRIN1 (glutamate ionotropic receptor NMDA type subunit 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Intellectual disability, autosomal dominant 8 | AGCACGTACACACGGGCAAGAGAAAGGAGCCAGAGACCTACATTCAAAGCCTGAGGGCTTCGGGACTGGGGGCCGGGACAGGCAGTGCGCCGGGATGAAGGGAGGCACGGGTGGGTGGCCCCACGGGTCCCAGGTCCTGTGCAGGTGCAGGGTCGGCTTTGTGGACATGCCCCTGTCCTCGTGGCACAGCAGGGTGGGGGTCAGCCTGCAGGCTGGGCTGTTTCTCACCCCAGGAAGATGCCTGGCATACACGGGACATCAGCGGCTCCTCTGCTGGAGGGAATCATGTCTTTTTTTTTTTGAGACAGAGTCTCGCTCTG... | AGCACGTACACACGGGCAAGAGAAAGGAGCCAGAGACCTACATTCAAAGCCTGAGGGCTTCGGGACTGGGGGCCGGGACAGGCAGTGCGCCGGGATGAAGGGAGGCACGGGTGGGTGGCCCCACGGGTCCCAGGTCCTGTGCAGGTGCAGGGTCGGCTTTGTGGACATGCCCCTGTCCTCGTGGCACAGCAGGGTGGGGGTCAGCCTGCAGGCTGGGCTGTTTCTCACCCCAGGAAGATGCCTGGCATACACGGGACATCAGCGGCTCCTCTGCTGGAGGGAATCATGTCTTTTTTTTTTTGAGACAGAGTCTCGCTCTG... |
Task1_train_13584 | This is a variant in GRIN1 (glutamate ionotropic receptor NMDA type subunit 1), located on Chromosome 9. Is this mutation a likely cause of disease or not? | Pathogenic; Intellectual disability, autosomal dominant 8 | AGCACGTACACACGGGCAAGAGAAAGGAGCCAGAGACCTACATTCAAAGCCTGAGGGCTTCGGGACTGGGGGCCGGGACAGGCAGTGCGCCGGGATGAAGGGAGGCACGGGTGGGTGGCCCCACGGGTCCCAGGTCCTGTGCAGGTGCAGGGTCGGCTTTGTGGACATGCCCCTGTCCTCGTGGCACAGCAGGGTGGGGGTCAGCCTGCAGGCTGGGCTGTTTCTCACCCCAGGAAGATGCCTGGCATACACGGGACATCAGCGGCTCCTCTGCTGGAGGGAATCATGTCTTTTTTTTTTTGAGACAGAGTCTCGCTCTG... | AGCACGTACACACGGGCAAGAGAAAGGAGCCAGAGACCTACATTCAAAGCCTGAGGGCTTCGGGACTGGGGGCCGGGACAGGCAGTGCGCCGGGATGAAGGGAGGCACGGGTGGGTGGCCCCACGGGTCCCAGGTCCTGTGCAGGTGCAGGGTCGGCTTTGTGGACATGCCCCTGTCCTCGTGGCACAGCAGGGTGGGGGTCAGCCTGCAGGCTGGGCTGTTTCTCACCCCAGGAAGATGCCTGGCATACACGGGACATCAGCGGCTCCTCTGCTGGAGGGAATCATGTCTTTTTTTTTTTGAGACAGAGTCTCGCTCTG... |
Task1_train_13585 | This mutation is located in gene GRIN1 (glutamate ionotropic receptor NMDA type subunit 1) on Chromosome 9. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | CACGTACACACGGGCAAGAGAAAGGAGCCAGAGACCTACATTCAAAGCCTGAGGGCTTCGGGACTGGGGGCCGGGACAGGCAGTGCGCCGGGATGAAGGGAGGCACGGGTGGGTGGCCCCACGGGTCCCAGGTCCTGTGCAGGTGCAGGGTCGGCTTTGTGGACATGCCCCTGTCCTCGTGGCACAGCAGGGTGGGGGTCAGCCTGCAGGCTGGGCTGTTTCTCACCCCAGGAAGATGCCTGGCATACACGGGACATCAGCGGCTCCTCTGCTGGAGGGAATCATGTCTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTC... | CACGTACACACGGGCAAGAGAAAGGAGCCAGAGACCTACATTCAAAGCCTGAGGGCTTCGGGACTGGGGGCCGGGACAGGCAGTGCGCCGGGATGAAGGGAGGCACGGGTGGGTGGCCCCACGGGTCCCAGGTCCTGTGCAGGTGCAGGGTCGGCTTTGTGGACATGCCCCTGTCCTCGTGGCACAGCAGGGTGGGGGTCAGCCTGCAGGCTGGGCTGTTTCTCACCCCAGGAAGATGCCTGGCATACACGGGACATCAGCGGCTCCTCTGCTGGAGGGAATCATGTCTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTC... |
Task1_train_13586 | A variant was discovered in gene GRIN1 (glutamate ionotropic receptor NMDA type subunit 1), Chromosome 9. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Intellectual disability, autosomal dominant 8 | ACACGGGCAAGAGAAAGGAGCCAGAGACCTACATTCAAAGCCTGAGGGCTTCGGGACTGGGGGCCGGGACAGGCAGTGCGCCGGGATGAAGGGAGGCACGGGTGGGTGGCCCCACGGGTCCCAGGTCCTGTGCAGGTGCAGGGTCGGCTTTGTGGACATGCCCCTGTCCTCGTGGCACAGCAGGGTGGGGGTCAGCCTGCAGGCTGGGCTGTTTCTCACCCCAGGAAGATGCCTGGCATACACGGGACATCAGCGGCTCCTCTGCTGGAGGGAATCATGTCTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGG... | ACACGGGCAAGAGAAAGGAGCCAGAGACCTACATTCAAAGCCTGAGGGCTTCGGGACTGGGGGCCGGGACAGGCAGTGCGCCGGGATGAAGGGAGGCACGGGTGGGTGGCCCCACGGGTCCCAGGTCCTGTGCAGGTGCAGGGTCGGCTTTGTGGACATGCCCCTGTCCTCGTGGCACAGCAGGGTGGGGGTCAGCCTGCAGGCTGGGCTGTTTCTCACCCCAGGAAGATGCCTGGCATACACGGGACATCAGCGGCTCCTCTGCTGGAGGGAATCATGTCTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGG... |
Task1_train_13587 | Located on Chromosome 9, this mutation impacts GRIN1 (glutamate ionotropic receptor NMDA type subunit 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Intellectual disability, autosomal dominant 8 | CGGGCAAGAGAAAGGAGCCAGAGACCTACATTCAAAGCCTGAGGGCTTCGGGACTGGGGGCCGGGACAGGCAGTGCGCCGGGATGAAGGGAGGCACGGGTGGGTGGCCCCACGGGTCCCAGGTCCTGTGCAGGTGCAGGGTCGGCTTTGTGGACATGCCCCTGTCCTCGTGGCACAGCAGGGTGGGGGTCAGCCTGCAGGCTGGGCTGTTTCTCACCCCAGGAAGATGCCTGGCATACACGGGACATCAGCGGCTCCTCTGCTGGAGGGAATCATGTCTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTG... | CGGGCAAGAGAAAGGAGCCAGAGACCTACATTCAAAGCCTGAGGGCTTCGGGACTGGGGGCCGGGACAGGCAGTGCGCCGGGATGAAGGGAGGCACGGGTGGGTGGCCCCACGGGTCCCAGGTCCTGTGCAGGTGCAGGGTCGGCTTTGTGGACATGCCCCTGTCCTCGTGGCACAGCAGGGTGGGGGTCAGCCTGCAGGCTGGGCTGTTTCTCACCCCAGGAAGATGCCTGGCATACACGGGACATCAGCGGCTCCTCTGCTGGAGGGAATCATGTCTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTG... |
Task1_train_13588 | This variant affects the gene GRIN1 (glutamate ionotropic receptor NMDA type subunit 1) found on Chromosome 9. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Intellectual disability | GGCAAGAGAAAGGAGCCAGAGACCTACATTCAAAGCCTGAGGGCTTCGGGACTGGGGGCCGGGACAGGCAGTGCGCCGGGATGAAGGGAGGCACGGGTGGGTGGCCCCACGGGTCCCAGGTCCTGTGCAGGTGCAGGGTCGGCTTTGTGGACATGCCCCTGTCCTCGTGGCACAGCAGGGTGGGGGTCAGCCTGCAGGCTGGGCTGTTTCTCACCCCAGGAAGATGCCTGGCATACACGGGACATCAGCGGCTCCTCTGCTGGAGGGAATCATGTCTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGA... | GGCAAGAGAAAGGAGCCAGAGACCTACATTCAAAGCCTGAGGGCTTCGGGACTGGGGGCCGGGACAGGCAGTGCGCCGGGATGAAGGGAGGCACGGGTGGGTGGCCCCACGGGTCCCAGGTCCTGTGCAGGTGCAGGGTCGGCTTTGTGGACATGCCCCTGTCCTCGTGGCACAGCAGGGTGGGGGTCAGCCTGCAGGCTGGGCTGTTTCTCACCCCAGGAAGATGCCTGGCATACACGGGACATCAGCGGCTCCTCTGCTGGAGGGAATCATGTCTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGA... |
Task1_train_13589 | This sequence variant lies in GRIN1 (glutamate ionotropic receptor NMDA type subunit 1) on Chromosome 9. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Intellectual disability, autosomal dominant 8 | CTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGGTCTCCGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGG... | CTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGGTCTCCGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGG... |
Task1_train_13590 | This variant impacts the gene GRIN1 (glutamate ionotropic receptor NMDA type subunit 1) on Chromosome 9. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGGTCTCCGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAA... | GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGGTCTCCGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAA... |
Task1_train_13591 | Here is a variant affecting GRIN1 (glutamate ionotropic receptor NMDA type subunit 1) on Chromosome 9. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Intellectual disability, autosomal dominant 8 | TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGGTCTCCGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAG... | TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGGTCTCCGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAG... |
Task1_train_13592 | This gene mutation involves GRIN1 (glutamate ionotropic receptor NMDA type subunit 1) on Chromosome 9. Is it associated with any clinical condition, or is it benign? | Pathogenic; Intellectual disability, autosomal dominant 8 | TTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCG... | TTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCG... |
Task1_train_13593 | This sequence change occurs on Chromosome 9, altering GRIN1 (glutamate ionotropic receptor NMDA type subunit 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Intellectual disability, autosomal dominant 8 | TTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGC... | TTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGC... |
Task1_train_13594 | This is a variant in GRIN1 (glutamate ionotropic receptor NMDA type subunit 1), located on Chromosome 9. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | TTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAG... | TTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAG... |
Task1_train_13595 | With a mutation on Chromosome 9 in gene GRIN1 (glutamate ionotropic receptor NMDA type subunit 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Intellectual disability, autosomal dominant 8 | CAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGC... | CAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGC... |
Task1_train_13596 | Given this context: Chromosome 9, gene GRIN1 (glutamate ionotropic receptor NMDA type subunit 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | TCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGT... | TCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGT... |
Task1_train_13597 | A variant was discovered on Chromosome 9, affecting GRIN1 (glutamate ionotropic receptor NMDA type subunit 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Intellectual disability, autosomal dominant 8 | CACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTG... | CACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTG... |
Task1_train_13598 | With a mutation on Chromosome 9 in gene GRIN1 (glutamate ionotropic receptor NMDA type subunit 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCG... | TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCG... |
Task1_train_13599 | A variant was discovered on Chromosome 9, affecting GRIN1 (glutamate ionotropic receptor NMDA type subunit 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Inborn genetic diseases | TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGG... | TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGG... |
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