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_10600 | Given this context: Chromosome 6, gene BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Maple syrup urine disease | TTTAAATCATCTCTATTTTTCACACTCCCTCCTTTTTTTTGGTATGCCTTTTTTGTCAGTTATTAAGACTAGTACATTAAAAAATCATCTCCCACTATGTGGTGATTTTGTCCATTTGTCCTTTTAGTTGTGTTGCTTTTTTCCATTTATTTGGAGCCCATTGTTAGATAAGTATAGATTTAGAATTATTTATTTCTTGTGAATTGAACCCTTTAACAGTATGCGTTTTCCCTCTTTATCTCTGGTATGTTTTTTTCCTGAAAGTCTACTTTGCCTGCTATTAATATAGTGACATCAACTTTCTTTTGGTTAGGTTTTTT... | TTTAAATCATCTCTATTTTTCACACTCCCTCCTTTTTTTTGGTATGCCTTTTTTGTCAGTTATTAAGACTAGTACATTAAAAAATCATCTCCCACTATGTGGTGATTTTGTCCATTTGTCCTTTTAGTTGTGTTGCTTTTTTCCATTTATTTGGAGCCCATTGTTAGATAAGTATAGATTTAGAATTATTTATTTCTTGTGAATTGAACCCTTTAACAGTATGCGTTTTCCCTCTTTATCTCTGGTATGTTTTTTTCCTGAAAGTCTACTTTGCCTGCTATTAATATAGTGACATCAACTTTCTTTTGGTTAGGTTTTTT... |
Task1_train_10601 | With a mutation on Chromosome 6 in gene BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Maple syrup urine disease | CCCTCCTTTTTTTTGGTATGCCTTTTTTGTCAGTTATTAAGACTAGTACATTAAAAAATCATCTCCCACTATGTGGTGATTTTGTCCATTTGTCCTTTTAGTTGTGTTGCTTTTTTCCATTTATTTGGAGCCCATTGTTAGATAAGTATAGATTTAGAATTATTTATTTCTTGTGAATTGAACCCTTTAACAGTATGCGTTTTCCCTCTTTATCTCTGGTATGTTTTTTTCCTGAAAGTCTACTTTGCCTGCTATTAATATAGTGACATCAACTTTCTTTTGGTTAGGTTTTTTATTGTCTATTTTTTCCTTCTTTTTTC... | CCCTCCTTTTTTTTGGTATGCCTTTTTTGTCAGTTATTAAGACTAGTACATTAAAAAATCATCTCCCACTATGTGGTGATTTTGTCCATTTGTCCTTTTAGTTGTGTTGCTTTTTTCCATTTATTTGGAGCCCATTGTTAGATAAGTATAGATTTAGAATTATTTATTTCTTGTGAATTGAACCCTTTAACAGTATGCGTTTTCCCTCTTTATCTCTGGTATGTTTTTTTCCTGAAAGTCTACTTTGCCTGCTATTAATATAGTGACATCAACTTTCTTTTGGTTAGGTTTTTTATTGTCTATTTTTTCCTTCTTTTTTC... |
Task1_train_10602 | With a mutation on Chromosome 6 in gene BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Maple syrup urine disease | TTAAGACTAGTACATTAAAAAATCATCTCCCACTATGTGGTGATTTTGTCCATTTGTCCTTTTAGTTGTGTTGCTTTTTTCCATTTATTTGGAGCCCATTGTTAGATAAGTATAGATTTAGAATTATTTATTTCTTGTGAATTGAACCCTTTAACAGTATGCGTTTTCCCTCTTTATCTCTGGTATGTTTTTTTCCTGAAAGTCTACTTTGCCTGCTATTAATATAGTGACATCAACTTTCTTTTGGTTAGGTTTTTTATTGTCTATTTTTTCCTTCTTTTTTCTTTTTTTTAACAACCTTTCTCTGTCTTTAGAGTTTG... | TTAAGACTAGTACATTAAAAAATCATCTCCCACTATGTGGTGATTTTGTCCATTTGTCCTTTTAGTTGTGTTGCTTTTTTCCATTTATTTGGAGCCCATTGTTAGATAAGTATAGATTTAGAATTATTTATTTCTTGTGAATTGAACCCTTTAACAGTATGCGTTTTCCCTCTTTATCTCTGGTATGTTTTTTTCCTGAAAGTCTACTTTGCCTGCTATTAATATAGTGACATCAACTTTCTTTTGGTTAGGTTTTTTATTGTCTATTTTTTCCTTCTTTTTTCTTTTTTTTAACAACCTTTCTCTGTCTTTAGAGTTTG... |
Task1_train_10603 | Here is a genetic alteration in BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta) on Chromosome 6. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Maple syrup urine disease | GACTGGTTTTATAAACTCTGGCATTGATTAATTTTATAGACTTCAAAGAATAAGACCAAGAACATAGTTGGTTTACCTCCCCTCTCTTTCAAAGCTTTATATTTCTTTCTAACTTAAGTCTTTCTCACTTAACTGATGATGGGGTGATTTTAATAAATCTTTTGTTTAGTCTGTATTTACCTCAAAGTCACAGGGATAACACTTTTGCTTTTAATGTATTTCTTACTTGTTAAAAAGACTAAGAGAAGACTGTTACCTAGATTTTTTTTTTCTGTTTAAAGTTAGGTAATACTTGCTCAACCAATTAATTTTGAAGCATC... | GACTGGTTTTATAAACTCTGGCATTGATTAATTTTATAGACTTCAAAGAATAAGACCAAGAACATAGTTGGTTTACCTCCCCTCTCTTTCAAAGCTTTATATTTCTTTCTAACTTAAGTCTTTCTCACTTAACTGATGATGGGGTGATTTTAATAAATCTTTTGTTTAGTCTGTATTTACCTCAAAGTCACAGGGATAACACTTTTGCTTTTAATGTATTTCTTACTTGTTAAAAAGACTAAGAGAAGACTGTTACCTAGATTTTTTTTTTCTGTTTAAAGTTAGGTAATACTTGCTCAACCAATTAATTTTGAAGCATC... |
Task1_train_10604 | This gene mutation involves BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta) on Chromosome 6. Is it associated with any clinical condition, or is it benign? | Pathogenic; Maple syrup urine disease type 1B | GACTGGTTTTATAAACTCTGGCATTGATTAATTTTATAGACTTCAAAGAATAAGACCAAGAACATAGTTGGTTTACCTCCCCTCTCTTTCAAAGCTTTATATTTCTTTCTAACTTAAGTCTTTCTCACTTAACTGATGATGGGGTGATTTTAATAAATCTTTTGTTTAGTCTGTATTTACCTCAAAGTCACAGGGATAACACTTTTGCTTTTAATGTATTTCTTACTTGTTAAAAAGACTAAGAGAAGACTGTTACCTAGATTTTTTTTTTCTGTTTAAAGTTAGGTAATACTTGCTCAACCAATTAATTTTGAAGCATC... | GACTGGTTTTATAAACTCTGGCATTGATTAATTTTATAGACTTCAAAGAATAAGACCAAGAACATAGTTGGTTTACCTCCCCTCTCTTTCAAAGCTTTATATTTCTTTCTAACTTAAGTCTTTCTCACTTAACTGATGATGGGGTGATTTTAATAAATCTTTTGTTTAGTCTGTATTTACCTCAAAGTCACAGGGATAACACTTTTGCTTTTAATGTATTTCTTACTTGTTAAAAAGACTAAGAGAAGACTGTTACCTAGATTTTTTTTTTCTGTTTAAAGTTAGGTAATACTTGCTCAACCAATTAATTTTGAAGCATC... |
Task1_train_10605 | A variant was discovered on Chromosome 6, affecting BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Maple syrup urine disease type 1A | GACTGGTTTTATAAACTCTGGCATTGATTAATTTTATAGACTTCAAAGAATAAGACCAAGAACATAGTTGGTTTACCTCCCCTCTCTTTCAAAGCTTTATATTTCTTTCTAACTTAAGTCTTTCTCACTTAACTGATGATGGGGTGATTTTAATAAATCTTTTGTTTAGTCTGTATTTACCTCAAAGTCACAGGGATAACACTTTTGCTTTTAATGTATTTCTTACTTGTTAAAAAGACTAAGAGAAGACTGTTACCTAGATTTTTTTTTTCTGTTTAAAGTTAGGTAATACTTGCTCAACCAATTAATTTTGAAGCATC... | GACTGGTTTTATAAACTCTGGCATTGATTAATTTTATAGACTTCAAAGAATAAGACCAAGAACATAGTTGGTTTACCTCCCCTCTCTTTCAAAGCTTTATATTTCTTTCTAACTTAAGTCTTTCTCACTTAACTGATGATGGGGTGATTTTAATAAATCTTTTGTTTAGTCTGTATTTACCTCAAAGTCACAGGGATAACACTTTTGCTTTTAATGTATTTCTTACTTGTTAAAAAGACTAAGAGAAGACTGTTACCTAGATTTTTTTTTTCTGTTTAAAGTTAGGTAATACTTGCTCAACCAATTAATTTTGAAGCATC... |
Task1_train_10606 | A variant has been detected on Chromosome 6 in BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not specified | ATAGTTGGTTTACCTCCCCTCTCTTTCAAAGCTTTATATTTCTTTCTAACTTAAGTCTTTCTCACTTAACTGATGATGGGGTGATTTTAATAAATCTTTTGTTTAGTCTGTATTTACCTCAAAGTCACAGGGATAACACTTTTGCTTTTAATGTATTTCTTACTTGTTAAAAAGACTAAGAGAAGACTGTTACCTAGATTTTTTTTTTCTGTTTAAAGTTAGGTAATACTTGCTCAACCAATTAATTTTGAAGCATCTCCTTTTTATAACCTGTCTTTCACAAAAGCTTAGGTCTTTTGATGGTAAAAATATTTTGAGTT... | ATAGTTGGTTTACCTCCCCTCTCTTTCAAAGCTTTATATTTCTTTCTAACTTAAGTCTTTCTCACTTAACTGATGATGGGGTGATTTTAATAAATCTTTTGTTTAGTCTGTATTTACCTCAAAGTCACAGGGATAACACTTTTGCTTTTAATGTATTTCTTACTTGTTAAAAAGACTAAGAGAAGACTGTTACCTAGATTTTTTTTTTCTGTTTAAAGTTAGGTAATACTTGCTCAACCAATTAATTTTGAAGCATCTCCTTTTTATAACCTGTCTTTCACAAAAGCTTAGGTCTTTTGATGGTAAAAATATTTTGAGTT... |
Task1_train_10607 | Consider a variant on Chromosome 6 in gene BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta). Determine its clinical classification and disease relevance. | Pathogenic; Maple syrup urine disease | TTCTGGACTGTTTATACATGTTGGCTCGATGTACATGTTGAAAAGATAAGTTGCTTGGTGTGCTCACTGCTGTGGTGGTTGTTTTTTACAAAATATAAGATTATATCGTCCTGCAACTTACTCATTTTACCAGTTAATTTGTCATGGCTGTCTTTACATGTCCTTAGTCTTTTTCATGGCTGCATAATACTCTACTATGTTGATGCATATTGGTCTATTTAGTCATTCCTCTGCTGAGGAGTGCTCAGAAGGGCTCCAAATTTTATCTGCTTACAAATCATGTTGAATCAACCTCAAATGTTGGAAGCTTTTGTCCTTGG... | TTCTGGACTGTTTATACATGTTGGCTCGATGTACATGTTGAAAAGATAAGTTGCTTGGTGTGCTCACTGCTGTGGTGGTTGTTTTTTACAAAATATAAGATTATATCGTCCTGCAACTTACTCATTTTACCAGTTAATTTGTCATGGCTGTCTTTACATGTCCTTAGTCTTTTTCATGGCTGCATAATACTCTACTATGTTGATGCATATTGGTCTATTTAGTCATTCCTCTGCTGAGGAGTGCTCAGAAGGGCTCCAAATTTTATCTGCTTACAAATCATGTTGAATCAACCTCAAATGTTGGAAGCTTTTGTCCTTGG... |
Task1_train_10608 | A change on Chromosome 6 affects gene TENT5A (terminal nucleotidyltransferase 5A). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Osteogenesis imperfecta, type 18 | TTAATAAATGGGTTCCAACTGTCAAAATGGCAGTTCAATATAAAAAAGAGTGCTCTGCCAAACAAATATTCTCCCATTTGTGGAATTTTATGGCTCACCAAAGAAAAAAAAAAAAAGAAAAAAAAATCCCACTAAAACAGTATAATTTCTGCTCTTCCTATGAAATATATTACTTGGTTCCCTCCTTCATTTAATTTTTTTAGATGTGGATTTAATTCATCATTGCAATATGCCCACGTCTCATGTTATCCTGTTGAAAACATAAAAACACACAGTATTTAAACATTTCCTATTTGAGACATTATTCTAGATCATAGTCA... | TTAATAAATGGGTTCCAACTGTCAAAATGGCAGTTCAATATAAAAAAGAGTGCTCTGCCAAACAAATATTCTCCCATTTGTGGAATTTTATGGCTCACCAAAGAAAAAAAAAAAAAGAAAAAAAAATCCCACTAAAACAGTATAATTTCTGCTCTTCCTATGAAATATATTACTTGGTTCCCTCCTTCATTTAATTTTTTTAGATGTGGATTTAATTCATCATTGCAATATGCCCACGTCTCATGTTATCCTGTTGAAAACATAAAAACACACAGTATTTAAACATTTCCTATTTGAGACATTATTCTAGATCATAGTCA... |
Task1_train_10609 | Located on Chromosome 6, this mutation impacts TENT5A (terminal nucleotidyltransferase 5A). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Osteogenesis imperfecta, type 18 | GTGGAGTAGGTCTGTTGCTGGCACGTGAATACTGGCTGAACCTGTGCAATGTAGTAATTGCTAAAGTTGGCATCTGCTACATAGGGGGCTGGCTGGTAATAGCAAGTGACATTAGCCACATTAGGAATGACATTTTGGTCAGCTAACACCCGGATAGCCAGCATGGTGATAAGGTTTAAAGTCTGTCTTCTTTCATGTCCCATCAGGCACACTGTGCTCTCATTTACCACTCCATGAAGGGTCATGAGATACTCATACTTGCGGTCTTCCAATCCCACAAAGTGGTTCTGCAAATAGGACTCCAGTTTTCTCTGCTGCTC... | GTGGAGTAGGTCTGTTGCTGGCACGTGAATACTGGCTGAACCTGTGCAATGTAGTAATTGCTAAAGTTGGCATCTGCTACATAGGGGGCTGGCTGGTAATAGCAAGTGACATTAGCCACATTAGGAATGACATTTTGGTCAGCTAACACCCGGATAGCCAGCATGGTGATAAGGTTTAAAGTCTGTCTTCTTTCATGTCCCATCAGGCACACTGTGCTCTCATTTACCACTCCATGAAGGGTCATGAGATACTCATACTTGCGGTCTTCCAATCCCACAAAGTGGTTCTGCAAATAGGACTCCAGTTTTCTCTGCTGCTC... |
Task1_train_10610 | A mutation on Chromosome 6 affecting DOP1A, PGM3 (DOP1 leucine zipper like protein A| phosphoglucomutase 3) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Immunodeficiency 23 | TTAAATATTTGTATATAAGAGCAAATGTCTGAATGTGGCCTGAATCAAGTTTAAATATTGTTGGCTCATACTGATTATGGTGCCTAAGAGAGCTATATATATACACATGTAAAGTCCATTGTTTTTATTGTCCTGAGTTGTCTTAAACCTGCAAAATATACACTACCCATTTTTTTTTTCCATTGGTTTCAGACTTGGTTCAATTAAGATTGGTTGGGGATTTTTCTCTTTTCCTTATTAACCATGTTCTGGTATCAGAATGGTGTTCCTTCTCCATCAGAGGCTGGGAAACGTATTATAATTAGTTTTTCTCCCACATA... | TTAAATATTTGTATATAAGAGCAAATGTCTGAATGTGGCCTGAATCAAGTTTAAATATTGTTGGCTCATACTGATTATGGTGCCTAAGAGAGCTATATATATACACATGTAAAGTCCATTGTTTTTATTGTCCTGAGTTGTCTTAAACCTGCAAAATATACACTACCCATTTTTTTTTTCCATTGGTTTCAGACTTGGTTCAATTAAGATTGGTTGGGGATTTTTCTCTTTTCCTTATTAACCATGTTCTGGTATCAGAATGGTGTTCCTTCTCCATCAGAGGCTGGGAAACGTATTATAATTAGTTTTTCTCCCACATA... |
Task1_train_10611 | This variant lies on Chromosome 6 and affects the gene DOP1A, PGM3 (DOP1 leucine zipper like protein A| phosphoglucomutase 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hyper-IgE syndrome | TTAAATATTTGTATATAAGAGCAAATGTCTGAATGTGGCCTGAATCAAGTTTAAATATTGTTGGCTCATACTGATTATGGTGCCTAAGAGAGCTATATATATACACATGTAAAGTCCATTGTTTTTATTGTCCTGAGTTGTCTTAAACCTGCAAAATATACACTACCCATTTTTTTTTTCCATTGGTTTCAGACTTGGTTCAATTAAGATTGGTTGGGGATTTTTCTCTTTTCCTTATTAACCATGTTCTGGTATCAGAATGGTGTTCCTTCTCCATCAGAGGCTGGGAAACGTATTATAATTAGTTTTTCTCCCACATA... | TTAAATATTTGTATATAAGAGCAAATGTCTGAATGTGGCCTGAATCAAGTTTAAATATTGTTGGCTCATACTGATTATGGTGCCTAAGAGAGCTATATATATACACATGTAAAGTCCATTGTTTTTATTGTCCTGAGTTGTCTTAAACCTGCAAAATATACACTACCCATTTTTTTTTTCCATTGGTTTCAGACTTGGTTCAATTAAGATTGGTTGGGGATTTTTCTCTTTTCCTTATTAACCATGTTCTGGTATCAGAATGGTGTTCCTTCTCCATCAGAGGCTGGGAAACGTATTATAATTAGTTTTTCTCCCACATA... |
Task1_train_10612 | Here is a genetic alteration in DOP1A, PGM3 (DOP1 leucine zipper like protein A| phosphoglucomutase 3) on Chromosome 6. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Immunodeficiency 23 | AATATTTGTATATAAGAGCAAATGTCTGAATGTGGCCTGAATCAAGTTTAAATATTGTTGGCTCATACTGATTATGGTGCCTAAGAGAGCTATATATATACACATGTAAAGTCCATTGTTTTTATTGTCCTGAGTTGTCTTAAACCTGCAAAATATACACTACCCATTTTTTTTTTCCATTGGTTTCAGACTTGGTTCAATTAAGATTGGTTGGGGATTTTTCTCTTTTCCTTATTAACCATGTTCTGGTATCAGAATGGTGTTCCTTCTCCATCAGAGGCTGGGAAACGTATTATAATTAGTTTTTCTCCCACATACCT... | AATATTTGTATATAAGAGCAAATGTCTGAATGTGGCCTGAATCAAGTTTAAATATTGTTGGCTCATACTGATTATGGTGCCTAAGAGAGCTATATATATACACATGTAAAGTCCATTGTTTTTATTGTCCTGAGTTGTCTTAAACCTGCAAAATATACACTACCCATTTTTTTTTTCCATTGGTTTCAGACTTGGTTCAATTAAGATTGGTTGGGGATTTTTCTCTTTTCCTTATTAACCATGTTCTGGTATCAGAATGGTGTTCCTTCTCCATCAGAGGCTGGGAAACGTATTATAATTAGTTTTTCTCCCACATACCT... |
Task1_train_10613 | A change on Chromosome 6 affects gene PGM3 (phosphoglucomutase 3). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Immunodeficiency 23 | ATCAAGAGTCCAGAATGCTATCAGTTGACTTAGAAATGAACTACAAAGCTGGTTGTTTTCATGTCACAAGAGTATATTTTTAAAAGAAGAGAAAAGGATCATCTACCTTATAGTGCATAAACTAAGTATTTATTAGTTATTCCTGCCATGGTTAAAAATATGACACTTTCAGGAAGTCTAGAATAAGTCAAAAATATTTGGGGAAATAAACTAAGTGGGTCTAATTTTGTTAAATTGTATAATTACTGCTGGTGAAAATAATTTTGTAGTCTTAATGTGAACCTAAAAGGCTCAACAAAATAAAGCCTTAATCATCATAG... | ATCAAGAGTCCAGAATGCTATCAGTTGACTTAGAAATGAACTACAAAGCTGGTTGTTTTCATGTCACAAGAGTATATTTTTAAAAGAAGAGAAAAGGATCATCTACCTTATAGTGCATAAACTAAGTATTTATTAGTTATTCCTGCCATGGTTAAAAATATGACACTTTCAGGAAGTCTAGAATAAGTCAAAAATATTTGGGGAAATAAACTAAGTGGGTCTAATTTTGTTAAATTGTATAATTACTGCTGGTGAAAATAATTTTGTAGTCTTAATGTGAACCTAAAAGGCTCAACAAAATAAAGCCTTAATCATCATAG... |
Task1_train_10614 | This alteration occurs within gene PGM3 (phosphoglucomutase 3) located on Chromosome 6. Is it associated with a disease or is it a benign variant? | Pathogenic; Immunodeficiency 23 | GTGACCGCCCTGGCCTACCTTCAGCAAAAGTCCTGTTAGATCAGTTTAGCCAAAATACCACCCACTTACCCTCATGTTTCCTCTCAGTAATTTTTCATCCACTGACCACCCCCCACACACCCTGCTCCTTGGCTATAAAGCCCTACTTTTCCTTACTATATTTGGAGTTGAGCCCAATCTTTCTCCTACCACTGCAAAACTCCATCACATTAGTCCCTGTACCTATCACAACAGTCCTGAATCAAGTCTGCCTTACCATTTTAACAAGTGTCATGAATTATTTTTTCTTTAACACTAGTCCTCAAATAGGAAAACTTGAA... | GTGACCGCCCTGGCCTACCTTCAGCAAAAGTCCTGTTAGATCAGTTTAGCCAAAATACCACCCACTTACCCTCATGTTTCCTCTCAGTAATTTTTCATCCACTGACCACCCCCCACACACCCTGCTCCTTGGCTATAAAGCCCTACTTTTCCTTACTATATTTGGAGTTGAGCCCAATCTTTCTCCTACCACTGCAAAACTCCATCACATTAGTCCCTGTACCTATCACAACAGTCCTGAATCAAGTCTGCCTTACCATTTTAACAAGTGTCATGAATTATTTTTTCTTTAACACTAGTCCTCAAATAGGAAAACTTGAA... |
Task1_train_10615 | Consider a variant on Chromosome 6 in gene PGM3 (phosphoglucomutase 3). Determine its clinical classification and disease relevance. | Pathogenic; Immunodeficiency 23 | ATTTCACTACTAAGTCTTGTTTTAGAGGGTAGCCAATCCCCCCACCATACCTCCACCAGGAGCTCTTTAAGGAAACTGCTAATTAACGTTGCTATCTTGTCTCCATCTATGAGATGAAAGTGGCCATCTGCATCATGGTAGTAATAAACAATTCTGTCTGCATCTCCATCAAAAGAACAGCATCTTTCATTGGACTTAATTTCCATTCCTAGCACACAGGATAATTTAACATGCATTTCAGTCTAAGAATTTATTATAAAGAGTTTTAGAATTTTCTCTTAAAATTATCCACCTAAAAATCAATGTCTTAATCTTAAATA... | ATTTCACTACTAAGTCTTGTTTTAGAGGGTAGCCAATCCCCCCACCATACCTCCACCAGGAGCTCTTTAAGGAAACTGCTAATTAACGTTGCTATCTTGTCTCCATCTATGAGATGAAAGTGGCCATCTGCATCATGGTAGTAATAAACAATTCTGTCTGCATCTCCATCAAAAGAACAGCATCTTTCATTGGACTTAATTTCCATTCCTAGCACACAGGATAATTTAACATGCATTTCAGTCTAAGAATTTATTATAAAGAGTTTTAGAATTTTCTCTTAAAATTATCCACCTAAAAATCAATGTCTTAATCTTAAATA... |
Task1_train_10616 | A variant has been detected on Chromosome 6 in PGM3 (phosphoglucomutase 3). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Immunodeficiency 23 | GTACTTAAAAAGGTTTTTATTTGAGGAAATTCAGCCTTACCAAAGTAAAGGAAGTTGTATTAGTTCAGAATTTCCCAGCTATAATCTCCTATAGTACTACCATAGGTAAGACAAAACATGCCTGCCCAGAAACGACCTGGAAGATGATTTTTAAAGTTAGTATTTTGTATCTAGGAGTTCATTTTTTAAACATTTTTTGTTCATCTGTATTTTCAAACTTTTCTAAATAAATATACATTACTTTTGTAAATTAAAGTTTTTTAAATATTAGTTTAATTTCCAACTCAGGATAACTACATACCATGGAATTGACCTCCTAG... | GTACTTAAAAAGGTTTTTATTTGAGGAAATTCAGCCTTACCAAAGTAAAGGAAGTTGTATTAGTTCAGAATTTCCCAGCTATAATCTCCTATAGTACTACCATAGGTAAGACAAAACATGCCTGCCCAGAAACGACCTGGAAGATGATTTTTAAAGTTAGTATTTTGTATCTAGGAGTTCATTTTTTAAACATTTTTTGTTCATCTGTATTTTCAAACTTTTCTAAATAAATATACATTACTTTTGTAAATTAAAGTTTTTTAAATATTAGTTTAATTTCCAACTCAGGATAACTACATACCATGGAATTGACCTCCTAG... |
Task1_train_10617 | Gene PGM3 (phosphoglucomutase 3) on Chromosome 6 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hyper-IgE syndrome | GTACTTAAAAAGGTTTTTATTTGAGGAAATTCAGCCTTACCAAAGTAAAGGAAGTTGTATTAGTTCAGAATTTCCCAGCTATAATCTCCTATAGTACTACCATAGGTAAGACAAAACATGCCTGCCCAGAAACGACCTGGAAGATGATTTTTAAAGTTAGTATTTTGTATCTAGGAGTTCATTTTTTAAACATTTTTTGTTCATCTGTATTTTCAAACTTTTCTAAATAAATATACATTACTTTTGTAAATTAAAGTTTTTTAAATATTAGTTTAATTTCCAACTCAGGATAACTACATACCATGGAATTGACCTCCTAG... | GTACTTAAAAAGGTTTTTATTTGAGGAAATTCAGCCTTACCAAAGTAAAGGAAGTTGTATTAGTTCAGAATTTCCCAGCTATAATCTCCTATAGTACTACCATAGGTAAGACAAAACATGCCTGCCCAGAAACGACCTGGAAGATGATTTTTAAAGTTAGTATTTTGTATCTAGGAGTTCATTTTTTAAACATTTTTTGTTCATCTGTATTTTCAAACTTTTCTAAATAAATATACATTACTTTTGTAAATTAAAGTTTTTTAAATATTAGTTTAATTTCCAACTCAGGATAACTACATACCATGGAATTGACCTCCTAG... |
Task1_train_10618 | Here is a genetic alteration in TBX18 (T-box transcription factor 18) on Chromosome 6. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Congenital anomalies of kidney and urinary tract 2 | TTCATGTCCCTTCATGCTAGTTTTAAATTTAAAAATTTAATACTAATTTGATGAACTGCTAAGGAATCCAAAAGGAAATTTGTTAATATGTATAAACAGAGTCACATCCTGTGCAAATTCAACAGTATATCTCCCTAAGTATCTAACAAATTGTGTTGTTTCAAAGTGAAACAGCAAATCAGGAGTTGTACCCTTTCCCCACCAAATCCAGGGATGAGTTAAAGCAACTCTTTTTAGCAATGAGAGAAAATCATGCTCTTTTGCTTAAGATACATGAAATGTAATGAATGGGTCAATGCACAGACATGTTATTTCGCTTT... | TTCATGTCCCTTCATGCTAGTTTTAAATTTAAAAATTTAATACTAATTTGATGAACTGCTAAGGAATCCAAAAGGAAATTTGTTAATATGTATAAACAGAGTCACATCCTGTGCAAATTCAACAGTATATCTCCCTAAGTATCTAACAAATTGTGTTGTTTCAAAGTGAAACAGCAAATCAGGAGTTGTACCCTTTCCCCACCAAATCCAGGGATGAGTTAAAGCAACTCTTTTTAGCAATGAGAGAAAATCATGCTCTTTTGCTTAAGATACATGAAATGTAATGAATGGGTCAATGCACAGACATGTTATTTCGCTTT... |
Task1_train_10619 | The gene TBX18 (T-box transcription factor 18) on Chromosome 6 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Congenital anomalies of kidney and urinary tract 2 | GGACATAGAACATATCAGAACTGAGATTTTTAAATGTAATTTGTTGCACCCTGTGTACATGTGTTCTGTGTTTACTGAAATGTCAGTATAGCTAAAAGTAAAATAATTTTACACTGAGGGAGTAATGGCACAAAAGAAAGCATCTTATTTTTTAAACAAAATCGATAAGCATATTTACTTTAGTAATACAACTAATAAAATGTAACAAATGGTAGAAATACAAAATTTGGATCTCTGAAAGTGATAAAATACATTATAATGTGAAATTTTTAAAGGGTTATAAAAAACCACAAGGAGCCAATGTGCCATGCTATAACCAA... | GGACATAGAACATATCAGAACTGAGATTTTTAAATGTAATTTGTTGCACCCTGTGTACATGTGTTCTGTGTTTACTGAAATGTCAGTATAGCTAAAAGTAAAATAATTTTACACTGAGGGAGTAATGGCACAAAAGAAAGCATCTTATTTTTTAAACAAAATCGATAAGCATATTTACTTTAGTAATACAACTAATAAAATGTAACAAATGGTAGAAATACAAAATTTGGATCTCTGAAAGTGATAAAATACATTATAATGTGAAATTTTTAAAGGGTTATAAAAAACCACAAGGAGCCAATGTGCCATGCTATAACCAA... |
Task1_train_10620 | The following genetic variant occurs in NT5E (5'-nucleotidase ecto) on Chromosome 6. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hereditary arterial and articular multiple calcification syndrome | TCTAAACAGCAGCATTCCTGAAGGTAAGTGAAGTTCAGGGGAATGTTCCACCAATCTAAAATTTAGATGGCTGGATATTTTGCTCCTTCCCATTTTTTTCCTTTAATGTTTCAGGAAAAGACTATAATACTGTTGAAGAATTTAGTTTCTTCCTTGAGTTTGCCCTCTTCATGGATAGATTTAAAACACACCCAAATGCCAAAAGCCCCACTTGCTTCTTCAAGTCTTCTCAGCATCAGATTCCATACATCACTGCTTCCTCTGCCTTTTAAAATCTTGATCCTGACATGCCAAAGCCACTCTCAGCTTGTGTTTACAGG... | TCTAAACAGCAGCATTCCTGAAGGTAAGTGAAGTTCAGGGGAATGTTCCACCAATCTAAAATTTAGATGGCTGGATATTTTGCTCCTTCCCATTTTTTTCCTTTAATGTTTCAGGAAAAGACTATAATACTGTTGAAGAATTTAGTTTCTTCCTTGAGTTTGCCCTCTTCATGGATAGATTTAAAACACACCCAAATGCCAAAAGCCCCACTTGCTTCTTCAAGTCTTCTCAGCATCAGATTCCATACATCACTGCTTCCTCTGCCTTTTAAAATCTTGATCCTGACATGCCAAAGCCACTCTCAGCTTGTGTTTACAGG... |
Task1_train_10621 | Consider this mutation in SNX14 (sorting nexin 14) on Chromosome 6. Is this a benign change or a disease-causing variant? | Pathogenic; Autosomal recessive spinocerebellar ataxia 20 | TGAGGTACACTGAGGTTCTTACACTGCTCCTGAAGCAGTAAAATGTTTTTAAATTAGGACTATGATAAATGAAAAAGAAAATCTCTGATCAATCAAAAAAGTAACAGAACACACTCAAAAAAATAGGAAAGATAAAATACTAAAAAATAACCTCAAGAAAGGCAGCAAAGGAGAAAAAGAAAGGCAAAGAATATACAGGACAAATATAAAACAAACACCAAGATGTAAGGCCTAACAATAAACACATAATAAATATATCACGTGTAAATGTACTACAGATACCAATTAAAAAGCAAAGATTACTAAATTAGGTTTTTTTA... | TGAGGTACACTGAGGTTCTTACACTGCTCCTGAAGCAGTAAAATGTTTTTAAATTAGGACTATGATAAATGAAAAAGAAAATCTCTGATCAATCAAAAAAGTAACAGAACACACTCAAAAAAATAGGAAAGATAAAATACTAAAAAATAACCTCAAGAAAGGCAGCAAAGGAGAAAAAGAAAGGCAAAGAATATACAGGACAAATATAAAACAAACACCAAGATGTAAGGCCTAACAATAAACACATAATAAATATATCACGTGTAAATGTACTACAGATACCAATTAAAAAGCAAAGATTACTAAATTAGGTTTTTTTA... |
Task1_train_10622 | Here is a genetic alteration in SLC35A1 (solute carrier family 35 member A1) on Chromosome 6. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; SLC35A1-congenital disorder of glycosylation | GTTTGAGACCAGCCTGCCAACATGGAAACCCCGTCTCTACCAAAAATACAAAAATAAGCCGGGCGTAGTGGCCTGTGCATGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATCCATGAACCTGGGAGATGGAGGTTGCAGTGAGCCGAGATTGCACCATTGCACTCCAGGTTGGGTGACAGAGAAAGACTCCGTCTCAAAAAAAACAAAACAAAACAACAAAGATGTAAGGAAAGTATATGGGGCATCTTAGATTTGCATTAAGCAGTTAAAAAAAAAGGCAAACATTAGTTTAAAGAGCCAATCTTCAGAAGCC... | GTTTGAGACCAGCCTGCCAACATGGAAACCCCGTCTCTACCAAAAATACAAAAATAAGCCGGGCGTAGTGGCCTGTGCATGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATCCATGAACCTGGGAGATGGAGGTTGCAGTGAGCCGAGATTGCACCATTGCACTCCAGGTTGGGTGACAGAGAAAGACTCCGTCTCAAAAAAAACAAAACAAAACAACAAAGATGTAAGGAAAGTATATGGGGCATCTTAGATTTGCATTAAGCAGTTAAAAAAAAAGGCAAACATTAGTTTAAAGAGCCAATCTTCAGAAGCC... |
Task1_train_10623 | Given a variant located on Chromosome 6 and affecting SLC35A1 (solute carrier family 35 member A1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; SLC35A1-congenital disorder of glycosylation | TGCTTTCTCTCAGAACTTGGGCAATTATATTTGCAGCATTTAAAAATGAAAAAATTCAACTCACAACTGTTGATTCTAATATATTAACCAAAAATACAGAATCTCATTGTAATTATCAAACTTTGAGTTGGAACAGAGCTATTTCACCAACAAAGTATTATGGTTTTCTTAAGGATATCGTGAGCTGCAGTTAGGACCATTATTATAAAGCACTTCTTTTGGGGTATTGGTGCTTATTATAAAACATTGCTTTATTTTTACTTTCAGGAAATCAATGAGCTGATTTATGATACAGGAAATACAAGCCAGATTAGCCACGT... | TGCTTTCTCTCAGAACTTGGGCAATTATATTTGCAGCATTTAAAAATGAAAAAATTCAACTCACAACTGTTGATTCTAATATATTAACCAAAAATACAGAATCTCATTGTAATTATCAAACTTTGAGTTGGAACAGAGCTATTTCACCAACAAAGTATTATGGTTTTCTTAAGGATATCGTGAGCTGCAGTTAGGACCATTATTATAAAGCACTTCTTTTGGGGTATTGGTGCTTATTATAAAACATTGCTTTATTTTTACTTTCAGGAAATCAATGAGCTGATTTATGATACAGGAAATACAAGCCAGATTAGCCACGT... |
Task1_train_10624 | This sequence variant lies in RARS2 (arginyl-tRNA synthetase 2, mitochondrial) on Chromosome 6. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Pontocerebellar hypoplasia type 6 | GGTTCTAGAGCAGTGCAAGGGATTGCAGAAGAGGCAGGAGCTCCCTTGATGACAAGGTTCCATAGTGCAGTTTTGGGAGTTATTTATGTCAGCTTAATCCAAAGCTTCTGCAGCCCTCCAACAACTTTGTAAACCATTCAATATTCTACAATAAATCCTCTTCTGCCTTTACTAAGAATGGATTTAGTTTTTTGCAAATAAACCCTCACCAATATCCATACCTGACTTAAACTACTGCAGCTATCTTCTTTTCCAGCTTCCCTAGTTGTAGACTTTCCCAATCTATAAAGTCCCTGCAACTGGAACCTGTTTTTCCAGCT... | GGTTCTAGAGCAGTGCAAGGGATTGCAGAAGAGGCAGGAGCTCCCTTGATGACAAGGTTCCATAGTGCAGTTTTGGGAGTTATTTATGTCAGCTTAATCCAAAGCTTCTGCAGCCCTCCAACAACTTTGTAAACCATTCAATATTCTACAATAAATCCTCTTCTGCCTTTACTAAGAATGGATTTAGTTTTTTGCAAATAAACCCTCACCAATATCCATACCTGACTTAAACTACTGCAGCTATCTTCTTTTCCAGCTTCCCTAGTTGTAGACTTTCCCAATCTATAAAGTCCCTGCAACTGGAACCTGTTTTTCCAGCT... |
Task1_train_10625 | Located on Chromosome 6, this mutation impacts RARS2 (arginyl-tRNA synthetase 2, mitochondrial). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Pontocerebellar hypoplasia type 6 | ACCACAGGTGTGTGCCACTACACCTAAGTTTTGTTTTTTATTTCTTTATAGAGATGGGGGTCTCCCTATGTTGCCCAGGCTGGTCTTGAACGTCTCAGTTCAAGGGATCCTCCCACCTCGGCCTCTCAAAGTTCTGGGATTACAAGTGTGAGCCACCATGCCTGGTCCAATTTACAGTCTTTACAAAGAACACAGCCTTTGCAAAACTAAACACAATTTGTTTCTCATCATGGCACTATCTTTACTTAAGGGCTAAGAATGGAAAACGTCCACCCTTACACACAGCTTAGATACTAAGGTCCAAAACTACCTTCCCTGAT... | ACCACAGGTGTGTGCCACTACACCTAAGTTTTGTTTTTTATTTCTTTATAGAGATGGGGGTCTCCCTATGTTGCCCAGGCTGGTCTTGAACGTCTCAGTTCAAGGGATCCTCCCACCTCGGCCTCTCAAAGTTCTGGGATTACAAGTGTGAGCCACCATGCCTGGTCCAATTTACAGTCTTTACAAAGAACACAGCCTTTGCAAAACTAAACACAATTTGTTTCTCATCATGGCACTATCTTTACTTAAGGGCTAAGAATGGAAAACGTCCACCCTTACACACAGCTTAGATACTAAGGTCCAAAACTACCTTCCCTGAT... |
Task1_train_10626 | The following genetic variant occurs in RARS2 (arginyl-tRNA synthetase 2, mitochondrial) on Chromosome 6. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Pontoneocerebellar hypoplasia | ACCACAGGTGTGTGCCACTACACCTAAGTTTTGTTTTTTATTTCTTTATAGAGATGGGGGTCTCCCTATGTTGCCCAGGCTGGTCTTGAACGTCTCAGTTCAAGGGATCCTCCCACCTCGGCCTCTCAAAGTTCTGGGATTACAAGTGTGAGCCACCATGCCTGGTCCAATTTACAGTCTTTACAAAGAACACAGCCTTTGCAAAACTAAACACAATTTGTTTCTCATCATGGCACTATCTTTACTTAAGGGCTAAGAATGGAAAACGTCCACCCTTACACACAGCTTAGATACTAAGGTCCAAAACTACCTTCCCTGAT... | ACCACAGGTGTGTGCCACTACACCTAAGTTTTGTTTTTTATTTCTTTATAGAGATGGGGGTCTCCCTATGTTGCCCAGGCTGGTCTTGAACGTCTCAGTTCAAGGGATCCTCCCACCTCGGCCTCTCAAAGTTCTGGGATTACAAGTGTGAGCCACCATGCCTGGTCCAATTTACAGTCTTTACAAAGAACACAGCCTTTGCAAAACTAAACACAATTTGTTTCTCATCATGGCACTATCTTTACTTAAGGGCTAAGAATGGAAAACGTCCACCCTTACACACAGCTTAGATACTAAGGTCCAAAACTACCTTCCCTGAT... |
Task1_train_10627 | This variant lies on Chromosome 6 and affects the gene RARS2 (arginyl-tRNA synthetase 2, mitochondrial). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Pontocerebellar hypoplasia type 6 | CCACAGGTGTGTGCCACTACACCTAAGTTTTGTTTTTTATTTCTTTATAGAGATGGGGGTCTCCCTATGTTGCCCAGGCTGGTCTTGAACGTCTCAGTTCAAGGGATCCTCCCACCTCGGCCTCTCAAAGTTCTGGGATTACAAGTGTGAGCCACCATGCCTGGTCCAATTTACAGTCTTTACAAAGAACACAGCCTTTGCAAAACTAAACACAATTTGTTTCTCATCATGGCACTATCTTTACTTAAGGGCTAAGAATGGAAAACGTCCACCCTTACACACAGCTTAGATACTAAGGTCCAAAACTACCTTCCCTGATA... | CCACAGGTGTGTGCCACTACACCTAAGTTTTGTTTTTTATTTCTTTATAGAGATGGGGGTCTCCCTATGTTGCCCAGGCTGGTCTTGAACGTCTCAGTTCAAGGGATCCTCCCACCTCGGCCTCTCAAAGTTCTGGGATTACAAGTGTGAGCCACCATGCCTGGTCCAATTTACAGTCTTTACAAAGAACACAGCCTTTGCAAAACTAAACACAATTTGTTTCTCATCATGGCACTATCTTTACTTAAGGGCTAAGAATGGAAAACGTCCACCCTTACACACAGCTTAGATACTAAGGTCCAAAACTACCTTCCCTGATA... |
Task1_train_10628 | This gene mutation involves RARS2 (arginyl-tRNA synthetase 2, mitochondrial) on Chromosome 6. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | CCACAGGTGTGTGCCACTACACCTAAGTTTTGTTTTTTATTTCTTTATAGAGATGGGGGTCTCCCTATGTTGCCCAGGCTGGTCTTGAACGTCTCAGTTCAAGGGATCCTCCCACCTCGGCCTCTCAAAGTTCTGGGATTACAAGTGTGAGCCACCATGCCTGGTCCAATTTACAGTCTTTACAAAGAACACAGCCTTTGCAAAACTAAACACAATTTGTTTCTCATCATGGCACTATCTTTACTTAAGGGCTAAGAATGGAAAACGTCCACCCTTACACACAGCTTAGATACTAAGGTCCAAAACTACCTTCCCTGATA... | CCACAGGTGTGTGCCACTACACCTAAGTTTTGTTTTTTATTTCTTTATAGAGATGGGGGTCTCCCTATGTTGCCCAGGCTGGTCTTGAACGTCTCAGTTCAAGGGATCCTCCCACCTCGGCCTCTCAAAGTTCTGGGATTACAAGTGTGAGCCACCATGCCTGGTCCAATTTACAGTCTTTACAAAGAACACAGCCTTTGCAAAACTAAACACAATTTGTTTCTCATCATGGCACTATCTTTACTTAAGGGCTAAGAATGGAAAACGTCCACCCTTACACACAGCTTAGATACTAAGGTCCAAAACTACCTTCCCTGATA... |
Task1_train_10629 | Consider a variant on Chromosome 6 in gene RARS2 (arginyl-tRNA synthetase 2, mitochondrial). Determine its clinical classification and disease relevance. | Pathogenic; Pontocerebellar hypoplasia type 6 | CACAGGTGTGTGCCACTACACCTAAGTTTTGTTTTTTATTTCTTTATAGAGATGGGGGTCTCCCTATGTTGCCCAGGCTGGTCTTGAACGTCTCAGTTCAAGGGATCCTCCCACCTCGGCCTCTCAAAGTTCTGGGATTACAAGTGTGAGCCACCATGCCTGGTCCAATTTACAGTCTTTACAAAGAACACAGCCTTTGCAAAACTAAACACAATTTGTTTCTCATCATGGCACTATCTTTACTTAAGGGCTAAGAATGGAAAACGTCCACCCTTACACACAGCTTAGATACTAAGGTCCAAAACTACCTTCCCTGATAT... | CACAGGTGTGTGCCACTACACCTAAGTTTTGTTTTTTATTTCTTTATAGAGATGGGGGTCTCCCTATGTTGCCCAGGCTGGTCTTGAACGTCTCAGTTCAAGGGATCCTCCCACCTCGGCCTCTCAAAGTTCTGGGATTACAAGTGTGAGCCACCATGCCTGGTCCAATTTACAGTCTTTACAAAGAACACAGCCTTTGCAAAACTAAACACAATTTGTTTCTCATCATGGCACTATCTTTACTTAAGGGCTAAGAATGGAAAACGTCCACCCTTACACACAGCTTAGATACTAAGGTCCAAAACTACCTTCCCTGATAT... |
Task1_train_10630 | This sequence variant lies in LOC129996828, RRAGD (ATAC-STARR-seq lymphoblastoid active region 24828| Ras related GTP binding D) on Chromosome 6. Is it clinically significant, and what condition might it cause if any? | Pathogenic; HYPOMAGNESEMIA 7, RENAL, WITH DILATED CARDIOMYOPATHY | CATGGGTAGGACTACTACAGCTACCCAGTTCAACAACTACAGAAACAGCTGCTGCGTGACTTAGGGAGAAAAATGGAGCTTAGAAGAGAGAGATGAGCATGACATCCCTGGAGCCTCCCCTTCCCTACAGCAGTGTGCACACACCCCATCCACTCCCCTTGAGCACTAAGCTCCCTAATTTATGGTGCTGGCAGACCTGAGACAGTAAAGCAGGGGATACTGCCAAGACCACAGATGGGCCAGAAAACAGGTCAGTACAAGTGGGACAGTCAGGAAAGCAGCTGCTGACAGCAGGCCCTGGACGTGGTGCAGGTAACACG... | CATGGGTAGGACTACTACAGCTACCCAGTTCAACAACTACAGAAACAGCTGCTGCGTGACTTAGGGAGAAAAATGGAGCTTAGAAGAGAGAGATGAGCATGACATCCCTGGAGCCTCCCCTTCCCTACAGCAGTGTGCACACACCCCATCCACTCCCCTTGAGCACTAAGCTCCCTAATTTATGGTGCTGGCAGACCTGAGACAGTAAAGCAGGGGATACTGCCAAGACCACAGATGGGCCAGAAAACAGGTCAGTACAAGTGGGACAGTCAGGAAAGCAGCTGCTGACAGCAGGCCCTGGACGTGGTGCAGGTAACACG... |
Task1_train_10631 | This alteration occurs within gene LOC129996828, RRAGD (ATAC-STARR-seq lymphoblastoid active region 24828| Ras related GTP binding D) located on Chromosome 6. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | CATGGGTAGGACTACTACAGCTACCCAGTTCAACAACTACAGAAACAGCTGCTGCGTGACTTAGGGAGAAAAATGGAGCTTAGAAGAGAGAGATGAGCATGACATCCCTGGAGCCTCCCCTTCCCTACAGCAGTGTGCACACACCCCATCCACTCCCCTTGAGCACTAAGCTCCCTAATTTATGGTGCTGGCAGACCTGAGACAGTAAAGCAGGGGATACTGCCAAGACCACAGATGGGCCAGAAAACAGGTCAGTACAAGTGGGACAGTCAGGAAAGCAGCTGCTGACAGCAGGCCCTGGACGTGGTGCAGGTAACACG... | CATGGGTAGGACTACTACAGCTACCCAGTTCAACAACTACAGAAACAGCTGCTGCGTGACTTAGGGAGAAAAATGGAGCTTAGAAGAGAGAGATGAGCATGACATCCCTGGAGCCTCCCCTTCCCTACAGCAGTGTGCACACACCCCATCCACTCCCCTTGAGCACTAAGCTCCCTAATTTATGGTGCTGGCAGACCTGAGACAGTAAAGCAGGGGATACTGCCAAGACCACAGATGGGCCAGAAAACAGGTCAGTACAAGTGGGACAGTCAGGAAAGCAGCTGCTGACAGCAGGCCCTGGACGTGGTGCAGGTAACACG... |
Task1_train_10632 | The gene RRAGD (Ras related GTP binding D) is located on Chromosome 6, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; HYPOMAGNESEMIA 7, RENAL, WITHOUT DILATED CARDIOMYOPATHY | GAAAAATGGAGCTTAGAAGAGAGAGATGAGCATGACATCCCTGGAGCCTCCCCTTCCCTACAGCAGTGTGCACACACCCCATCCACTCCCCTTGAGCACTAAGCTCCCTAATTTATGGTGCTGGCAGACCTGAGACAGTAAAGCAGGGGATACTGCCAAGACCACAGATGGGCCAGAAAACAGGTCAGTACAAGTGGGACAGTCAGGAAAGCAGCTGCTGACAGCAGGCCCTGGACGTGGTGCAGGTAACACGTGTTTCTGGGTAGGCCCATGGGAAGAGAGTAAACTGCTGATCACAGATCAGGCATTGGATTTGAAGT... | GAAAAATGGAGCTTAGAAGAGAGAGATGAGCATGACATCCCTGGAGCCTCCCCTTCCCTACAGCAGTGTGCACACACCCCATCCACTCCCCTTGAGCACTAAGCTCCCTAATTTATGGTGCTGGCAGACCTGAGACAGTAAAGCAGGGGATACTGCCAAGACCACAGATGGGCCAGAAAACAGGTCAGTACAAGTGGGACAGTCAGGAAAGCAGCTGCTGACAGCAGGCCCTGGACGTGGTGCAGGTAACACGTGTTTCTGGGTAGGCCCATGGGAAGAGAGTAAACTGCTGATCACAGATCAGGCATTGGATTTGAAGT... |
Task1_train_10633 | An alteration has been detected in RRAGD (Ras related GTP binding D) on Chromosome 6. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hypomagnesemia 7, renal, with or without dilated cardiomyopathy | GCAGTGTGCACACACCCCATCCACTCCCCTTGAGCACTAAGCTCCCTAATTTATGGTGCTGGCAGACCTGAGACAGTAAAGCAGGGGATACTGCCAAGACCACAGATGGGCCAGAAAACAGGTCAGTACAAGTGGGACAGTCAGGAAAGCAGCTGCTGACAGCAGGCCCTGGACGTGGTGCAGGTAACACGTGTTTCTGGGTAGGCCCATGGGAAGAGAGTAAACTGCTGATCACAGATCAGGCATTGGATTTGAAGTCTCCCTCCTCCACACCCCTACCAAAAAGGAAAGGAAGAACCCTTCTAACCATTGGCCATGCT... | GCAGTGTGCACACACCCCATCCACTCCCCTTGAGCACTAAGCTCCCTAATTTATGGTGCTGGCAGACCTGAGACAGTAAAGCAGGGGATACTGCCAAGACCACAGATGGGCCAGAAAACAGGTCAGTACAAGTGGGACAGTCAGGAAAGCAGCTGCTGACAGCAGGCCCTGGACGTGGTGCAGGTAACACGTGTTTCTGGGTAGGCCCATGGGAAGAGAGTAAACTGCTGATCACAGATCAGGCATTGGATTTGAAGTCTCCCTCCTCCACACCCCTACCAAAAAGGAAAGGAAGAACCCTTCTAACCATTGGCCATGCT... |
Task1_train_10634 | Gene RRAGD (Ras related GTP binding D) on Chromosome 6 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; RRAGD-related disorder | GCAGTGTGCACACACCCCATCCACTCCCCTTGAGCACTAAGCTCCCTAATTTATGGTGCTGGCAGACCTGAGACAGTAAAGCAGGGGATACTGCCAAGACCACAGATGGGCCAGAAAACAGGTCAGTACAAGTGGGACAGTCAGGAAAGCAGCTGCTGACAGCAGGCCCTGGACGTGGTGCAGGTAACACGTGTTTCTGGGTAGGCCCATGGGAAGAGAGTAAACTGCTGATCACAGATCAGGCATTGGATTTGAAGTCTCCCTCCTCCACACCCCTACCAAAAAGGAAAGGAAGAACCCTTCTAACCATTGGCCATGCT... | GCAGTGTGCACACACCCCATCCACTCCCCTTGAGCACTAAGCTCCCTAATTTATGGTGCTGGCAGACCTGAGACAGTAAAGCAGGGGATACTGCCAAGACCACAGATGGGCCAGAAAACAGGTCAGTACAAGTGGGACAGTCAGGAAAGCAGCTGCTGACAGCAGGCCCTGGACGTGGTGCAGGTAACACGTGTTTCTGGGTAGGCCCATGGGAAGAGAGTAAACTGCTGATCACAGATCAGGCATTGGATTTGAAGTCTCCCTCCTCCACACCCCTACCAAAAAGGAAAGGAAGAACCCTTCTAACCATTGGCCATGCT... |
Task1_train_10635 | The following genetic variant occurs in RRAGD (Ras related GTP binding D) on Chromosome 6. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; HYPOMAGNESEMIA 7, RENAL, WITHOUT DILATED CARDIOMYOPATHY | GCAGTGTGCACACACCCCATCCACTCCCCTTGAGCACTAAGCTCCCTAATTTATGGTGCTGGCAGACCTGAGACAGTAAAGCAGGGGATACTGCCAAGACCACAGATGGGCCAGAAAACAGGTCAGTACAAGTGGGACAGTCAGGAAAGCAGCTGCTGACAGCAGGCCCTGGACGTGGTGCAGGTAACACGTGTTTCTGGGTAGGCCCATGGGAAGAGAGTAAACTGCTGATCACAGATCAGGCATTGGATTTGAAGTCTCCCTCCTCCACACCCCTACCAAAAAGGAAAGGAAGAACCCTTCTAACCATTGGCCATGCT... | GCAGTGTGCACACACCCCATCCACTCCCCTTGAGCACTAAGCTCCCTAATTTATGGTGCTGGCAGACCTGAGACAGTAAAGCAGGGGATACTGCCAAGACCACAGATGGGCCAGAAAACAGGTCAGTACAAGTGGGACAGTCAGGAAAGCAGCTGCTGACAGCAGGCCCTGGACGTGGTGCAGGTAACACGTGTTTCTGGGTAGGCCCATGGGAAGAGAGTAAACTGCTGATCACAGATCAGGCATTGGATTTGAAGTCTCCCTCCTCCACACCCCTACCAAAAAGGAAAGGAAGAACCCTTCTAACCATTGGCCATGCT... |
Task1_train_10636 | This variant affects the gene BACH2 (BTB domain and CNC homolog 2) found on Chromosome 6. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Immunodeficiency 60 | CCCTCCTCAGCCTCCTGAGTAGCTGAGACCACAGGTGTGTGCCACCACCTCTAGCTAATTTTTAAATCTTTTGTAGAGATGGGGGTCTCCCTATGTTGCCCAAGACAGTCTTGAACTCCTGAACTCAAGTGGTCTTCCCGCTTTGGCCTCCTGAAGTACCAGGATGACAGGTGTGAGCTGCTGCACCTGGCCCCAGTCCTCATTTTTATCAGCTGGTTGCCTTCCTGCTCAGCAGGGGTAATAGCAGATGTTGCTTAACAAGGGTCTGGGATTTGAAGAAACCTCCACTACCCATATCTTGTTTGTCTATCAAATAGACA... | CCCTCCTCAGCCTCCTGAGTAGCTGAGACCACAGGTGTGTGCCACCACCTCTAGCTAATTTTTAAATCTTTTGTAGAGATGGGGGTCTCCCTATGTTGCCCAAGACAGTCTTGAACTCCTGAACTCAAGTGGTCTTCCCGCTTTGGCCTCCTGAAGTACCAGGATGACAGGTGTGAGCTGCTGCACCTGGCCCCAGTCCTCATTTTTATCAGCTGGTTGCCTTCCTGCTCAGCAGGGGTAATAGCAGATGTTGCTTAACAAGGGTCTGGGATTTGAAGAAACCTCCACTACCCATATCTTGTTTGTCTATCAAATAGACA... |
Task1_train_10637 | This variant impacts the gene MAP3K7 (mitogen-activated protein kinase kinase kinase 7) on Chromosome 6. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | CAGAGGCGTAAAATATTCCAAATAATTCTAAAGGCGCTTGATTCACAGACTAGGAAAATTTGATAATCATTTAAAAGGGTTCTTCTAAATAGAAGAAAGTTTAACTTTTTACTGGGATATAAAAACCTGAAAATAGGCCAAATAGTAAAAGTCACTCAAATAAATGTGTCTGAGAATGCAACCTATTGCCTTGCATAAATGACTAAATGCTTGATGAAAATTGGTATCAGAAAAATGTAAAATTTAGTTTATCATGTATTGAAGTCATAATATTAATATATCCAAGTCCTGTGATGGCTTTAGAGACTATCTATTTCAGT... | CAGAGGCGTAAAATATTCCAAATAATTCTAAAGGCGCTTGATTCACAGACTAGGAAAATTTGATAATCATTTAAAAGGGTTCTTCTAAATAGAAGAAAGTTTAACTTTTTACTGGGATATAAAAACCTGAAAATAGGCCAAATAGTAAAAGTCACTCAAATAAATGTGTCTGAGAATGCAACCTATTGCCTTGCATAAATGACTAAATGCTTGATGAAAATTGGTATCAGAAAAATGTAAAATTTAGTTTATCATGTATTGAAGTCATAATATTAATATATCCAAGTCCTGTGATGGCTTTAGAGACTATCTATTTCAGT... |
Task1_train_10638 | A mutation in MAP3K7 (mitogen-activated protein kinase kinase kinase 7), located on Chromosome 6, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | CAGAGGCGTAAAATATTCCAAATAATTCTAAAGGCGCTTGATTCACAGACTAGGAAAATTTGATAATCATTTAAAAGGGTTCTTCTAAATAGAAGAAAGTTTAACTTTTTACTGGGATATAAAAACCTGAAAATAGGCCAAATAGTAAAAGTCACTCAAATAAATGTGTCTGAGAATGCAACCTATTGCCTTGCATAAATGACTAAATGCTTGATGAAAATTGGTATCAGAAAAATGTAAAATTTAGTTTATCATGTATTGAAGTCATAATATTAATATATCCAAGTCCTGTGATGGCTTTAGAGACTATCTATTTCAGT... | CAGAGGCGTAAAATATTCCAAATAATTCTAAAGGCGCTTGATTCACAGACTAGGAAAATTTGATAATCATTTAAAAGGGTTCTTCTAAATAGAAGAAAGTTTAACTTTTTACTGGGATATAAAAACCTGAAAATAGGCCAAATAGTAAAAGTCACTCAAATAAATGTGTCTGAGAATGCAACCTATTGCCTTGCATAAATGACTAAATGCTTGATGAAAATTGGTATCAGAAAAATGTAAAATTTAGTTTATCATGTATTGAAGTCATAATATTAATATATCCAAGTCCTGTGATGGCTTTAGAGACTATCTATTTCAGT... |
Task1_train_10639 | Gene MAP3K7 (mitogen-activated protein kinase kinase kinase 7), found on Chromosome 6, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Cardiospondylocarpofacial syndrome | TTTTTACTGGGATATAAAAACCTGAAAATAGGCCAAATAGTAAAAGTCACTCAAATAAATGTGTCTGAGAATGCAACCTATTGCCTTGCATAAATGACTAAATGCTTGATGAAAATTGGTATCAGAAAAATGTAAAATTTAGTTTATCATGTATTGAAGTCATAATATTAATATATCCAAGTCCTGTGATGGCTTTAGAGACTATCTATTTCAGTTTCTCCCACATTACAAATGAGGCAACAGGCCCAGAGACAAACATACTTGTCCACTAATGTAAGCAAAAAGAAAAAAGCAAGTCTAGAAACCTAGTCTAGCCATCT... | TTTTTACTGGGATATAAAAACCTGAAAATAGGCCAAATAGTAAAAGTCACTCAAATAAATGTGTCTGAGAATGCAACCTATTGCCTTGCATAAATGACTAAATGCTTGATGAAAATTGGTATCAGAAAAATGTAAAATTTAGTTTATCATGTATTGAAGTCATAATATTAATATATCCAAGTCCTGTGATGGCTTTAGAGACTATCTATTTCAGTTTCTCCCACATTACAAATGAGGCAACAGGCCCAGAGACAAACATACTTGTCCACTAATGTAAGCAAAAAGAAAAAAGCAAGTCTAGAAACCTAGTCTAGCCATCT... |
Task1_train_10640 | A variant has been detected on Chromosome 6 in MAP3K7 (mitogen-activated protein kinase kinase kinase 7). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Frontometaphyseal dysplasia 2 | CTACAACCATGCTACAGTCTAATTTGGGCTACAGGTTGACTGACATCTTTCAGAAATGAAGAAACTTACACAGCCTAACAGTCTGCATTTTGTTGCTCTAGACAATTAAGGGTTGTCTAGAGCAATAAAATTAATCTTTTGTATAAACAAATCTTTTTGCTCTCCACATACAGTAACATTGGGTCATTTTAACTCACATAAAGGTATATTAAATAAGTAAATAATTTTAAAACAATGTCAAATGTATACATTCTGTATATGAAACAGGAGGCATTATTTAATCTTGTGTAATATAACACCTGATTATTCATTTATTACTA... | CTACAACCATGCTACAGTCTAATTTGGGCTACAGGTTGACTGACATCTTTCAGAAATGAAGAAACTTACACAGCCTAACAGTCTGCATTTTGTTGCTCTAGACAATTAAGGGTTGTCTAGAGCAATAAAATTAATCTTTTGTATAAACAAATCTTTTTGCTCTCCACATACAGTAACATTGGGTCATTTTAACTCACATAAAGGTATATTAAATAAGTAAATAATTTTAAAACAATGTCAAATGTATACATTCTGTATATGAAACAGGAGGCATTATTTAATCTTGTGTAATATAACACCTGATTATTCATTTATTACTA... |
Task1_train_10641 | Here is a variant affecting MAP3K7 (mitogen-activated protein kinase kinase kinase 7) on Chromosome 6. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Frontometaphyseal dysplasia 2 | TTTCTACCCAGATGCCAAGAAATGCCCTTTTACTTTCCTCTGAAAGAGCAAGTAATAACAACTCTGCAAATTTCTGTAGAATGTTTATGTGCTAGGTGTTAGGGACACAGCAAGAAAAACGTCAGACCTATCTCTGCCCCCAAGGAATTGTCTAACAGCAACATTATATACTGCAGGCACAAAATGAGATTTTTATAGGCTAACAGATTCTAGAAGTATGCTAATCTAAGGTAGAGGTTACCAAAAATAAAAATCCCACTAAAGACAACATCTAAAATACAAGCTTAGATAAATGACTAAATGATGAAGGTGAGTTAAAA... | TTTCTACCCAGATGCCAAGAAATGCCCTTTTACTTTCCTCTGAAAGAGCAAGTAATAACAACTCTGCAAATTTCTGTAGAATGTTTATGTGCTAGGTGTTAGGGACACAGCAAGAAAAACGTCAGACCTATCTCTGCCCCCAAGGAATTGTCTAACAGCAACATTATATACTGCAGGCACAAAATGAGATTTTTATAGGCTAACAGATTCTAGAAGTATGCTAATCTAAGGTAGAGGTTACCAAAAATAAAAATCCCACTAAAGACAACATCTAAAATACAAGCTTAGATAAATGACTAAATGATGAAGGTGAGTTAAAA... |
Task1_train_10642 | This is a variant in MAP3K7 (mitogen-activated protein kinase kinase kinase 7), located on Chromosome 6. Is this mutation a likely cause of disease or not? | Pathogenic; Frontometaphyseal dysplasia 2 | TTTTGCCATGTTGTCCAGACTGATCTCAAACTCCTGGGCTCAAGCAACCCATCTGCCATTCCCAAAGTTCTGGGATTACAGATGTGAACCATCATGTCTGTCTTCAAACTTCTTTCTATTAATGCATCCCGCTCCACAGCAAACTGCTTCTTGCTCATTCTTTTCTCCCTTCTCCTCTCTTTTCTGCCCTTTTTCCACTCTTCTTCCTCTTCTCTATTACATACATTATGCTGCTGGCTCATATTCAGTACACTAATGTCTCTAAACCTTCATACTGTATGCTAATAAAAAGCTCTATCTATCTAGAGCCAACATGTGTG... | TTTTGCCATGTTGTCCAGACTGATCTCAAACTCCTGGGCTCAAGCAACCCATCTGCCATTCCCAAAGTTCTGGGATTACAGATGTGAACCATCATGTCTGTCTTCAAACTTCTTTCTATTAATGCATCCCGCTCCACAGCAAACTGCTTCTTGCTCATTCTTTTCTCCCTTCTCCTCTCTTTTCTGCCCTTTTTCCACTCTTCTTCCTCTTCTCTATTACATACATTATGCTGCTGGCTCATATTCAGTACACTAATGTCTCTAAACCTTCATACTGTATGCTAATAAAAAGCTCTATCTATCTAGAGCCAACATGTGTG... |
Task1_train_10643 | Located on Chromosome 6, this mutation impacts NDUFAF4 (NADH:ubiquinone oxidoreductase complex assembly factor 4). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Mitochondrial complex I deficiency | TTCCCTTTACCACTCAAAGACTTAATAATTAAAATGTTAATTCTCCTCAAATTAATCCATAAATTCCCATTCAATTATACTCAAAATCCAAATAGGACTTATTAAAGAACCTGACAATTTCATTCTCAAATTCATCTGGAAAAATATTAATGTGTGAAAAGAGACCAGAAACTTTTTAAAAGAATGAGAGAAGACTATAAGAAATATCAACACACATTATAAAGCTCTATTAATTAAAACTATGGTTCTAGTGTATAAATAGAAAAATAAGTAAAACTGATGAGTCCATAAATAGACCCATATGTGTATCTAGAGATGCA... | TTCCCTTTACCACTCAAAGACTTAATAATTAAAATGTTAATTCTCCTCAAATTAATCCATAAATTCCCATTCAATTATACTCAAAATCCAAATAGGACTTATTAAAGAACCTGACAATTTCATTCTCAAATTCATCTGGAAAAATATTAATGTGTGAAAAGAGACCAGAAACTTTTTAAAAGAATGAGAGAAGACTATAAGAAATATCAACACACATTATAAAGCTCTATTAATTAAAACTATGGTTCTAGTGTATAAATAGAAAAATAAGTAAAACTGATGAGTCCATAAATAGACCCATATGTGTATCTAGAGATGCA... |
Task1_train_10644 | This genomic variant is located on Chromosome 6, within the TSTD3, USP45 (thiosulfate sulfurtransferase like domain containing 3| ubiquitin specific peptidase 45) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Leber congenital amaurosis 19 | AAATTTTAAAAATGACTGCCAATGATTATATGTGAAAGAAAATATAATAAAAATGATGTGATTGTAATCCATTCCATGCTGAATTGAATTCTAAAGTACCTACATTTGCACATTCTTCACACATGACCGTGCTAGTTAATTCACCAATAAAGATCCGATCTATGAAGTTCATTTTCACACCTTCTTTTCCATATGCTGTAAAAATCATACTTTTTAATGCAAAAAACATGTCAACCATCCATCTAGCAGTATAATAGGCTATCTTCTGGTTATTCAAAAGTAATCTGAATAAGATATTCTGTACTACATTTAATAATACA... | AAATTTTAAAAATGACTGCCAATGATTATATGTGAAAGAAAATATAATAAAAATGATGTGATTGTAATCCATTCCATGCTGAATTGAATTCTAAAGTACCTACATTTGCACATTCTTCACACATGACCGTGCTAGTTAATTCACCAATAAAGATCCGATCTATGAAGTTCATTTTCACACCTTCTTTTCCATATGCTGTAAAAATCATACTTTTTAATGCAAAAAACATGTCAACCATCCATCTAGCAGTATAATAGGCTATCTTCTGGTTATTCAAAAGTAATCTGAATAAGATATTCTGTACTACATTTAATAATACA... |
Task1_train_10645 | A variant was discovered in gene GRIK2 (glutamate ionotropic receptor kainate type subunit 2), Chromosome 6. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Neurodevelopmental disorder with impaired language and ataxia and with or without seizures | CATTCTTTTTTTCTACTTATATTTTAAAAAAATATTTGGAGGTCTTTGAGAATTTGTATGCTCATAGGACAAACTTGCTATTAGTAGTATTTAGGAATTAGAGGTAAAACTCTATGTTATTATCTCTGAAGATAATGACAAGCAATTCAAGCAATGAAAAATTCAAATATACATTTGCTTCGCCACATAACTACGTCACTGCTGGTGGATACATGAAAGAGGAACCCATACTATTCTGGCTGATGCCCAGCTTCCCAGGAATTAGTGGGATATAGTGCTGGACATGACGTTACCTTGAGTACATGACAGTCAGCCCCTAA... | CATTCTTTTTTTCTACTTATATTTTAAAAAAATATTTGGAGGTCTTTGAGAATTTGTATGCTCATAGGACAAACTTGCTATTAGTAGTATTTAGGAATTAGAGGTAAAACTCTATGTTATTATCTCTGAAGATAATGACAAGCAATTCAAGCAATGAAAAATTCAAATATACATTTGCTTCGCCACATAACTACGTCACTGCTGGTGGATACATGAAAGAGGAACCCATACTATTCTGGCTGATGCCCAGCTTCCCAGGAATTAGTGGGATATAGTGCTGGACATGACGTTACCTTGAGTACATGACAGTCAGCCCCTAA... |
Task1_train_10646 | Here is a variant affecting GRIK2 (glutamate ionotropic receptor kainate type subunit 2) on Chromosome 6. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Inborn genetic diseases | CATTCTTTTTTTCTACTTATATTTTAAAAAAATATTTGGAGGTCTTTGAGAATTTGTATGCTCATAGGACAAACTTGCTATTAGTAGTATTTAGGAATTAGAGGTAAAACTCTATGTTATTATCTCTGAAGATAATGACAAGCAATTCAAGCAATGAAAAATTCAAATATACATTTGCTTCGCCACATAACTACGTCACTGCTGGTGGATACATGAAAGAGGAACCCATACTATTCTGGCTGATGCCCAGCTTCCCAGGAATTAGTGGGATATAGTGCTGGACATGACGTTACCTTGAGTACATGACAGTCAGCCCCTAA... | CATTCTTTTTTTCTACTTATATTTTAAAAAAATATTTGGAGGTCTTTGAGAATTTGTATGCTCATAGGACAAACTTGCTATTAGTAGTATTTAGGAATTAGAGGTAAAACTCTATGTTATTATCTCTGAAGATAATGACAAGCAATTCAAGCAATGAAAAATTCAAATATACATTTGCTTCGCCACATAACTACGTCACTGCTGGTGGATACATGAAAGAGGAACCCATACTATTCTGGCTGATGCCCAGCTTCCCAGGAATTAGTGGGATATAGTGCTGGACATGACGTTACCTTGAGTACATGACAGTCAGCCCCTAA... |
Task1_train_10647 | This alteration occurs within gene GRIK2 (glutamate ionotropic receptor kainate type subunit 2) located on Chromosome 6. Is it associated with a disease or is it a benign variant? | Pathogenic; GRIK2-related neurodevelopmental disorder | TTCTACTTATATTTTAAAAAAATATTTGGAGGTCTTTGAGAATTTGTATGCTCATAGGACAAACTTGCTATTAGTAGTATTTAGGAATTAGAGGTAAAACTCTATGTTATTATCTCTGAAGATAATGACAAGCAATTCAAGCAATGAAAAATTCAAATATACATTTGCTTCGCCACATAACTACGTCACTGCTGGTGGATACATGAAAGAGGAACCCATACTATTCTGGCTGATGCCCAGCTTCCCAGGAATTAGTGGGATATAGTGCTGGACATGACGTTACCTTGAGTACATGACAGTCAGCCCCTAACCAGGCTCTG... | TTCTACTTATATTTTAAAAAAATATTTGGAGGTCTTTGAGAATTTGTATGCTCATAGGACAAACTTGCTATTAGTAGTATTTAGGAATTAGAGGTAAAACTCTATGTTATTATCTCTGAAGATAATGACAAGCAATTCAAGCAATGAAAAATTCAAATATACATTTGCTTCGCCACATAACTACGTCACTGCTGGTGGATACATGAAAGAGGAACCCATACTATTCTGGCTGATGCCCAGCTTCCCAGGAATTAGTGGGATATAGTGCTGGACATGACGTTACCTTGAGTACATGACAGTCAGCCCCTAACCAGGCTCTG... |
Task1_train_10648 | Here is a genetic alteration in GRIK2 (glutamate ionotropic receptor kainate type subunit 2) on Chromosome 6. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Neurodevelopmental disorder with impaired language and ataxia and with or without seizures | TTCTACTTATATTTTAAAAAAATATTTGGAGGTCTTTGAGAATTTGTATGCTCATAGGACAAACTTGCTATTAGTAGTATTTAGGAATTAGAGGTAAAACTCTATGTTATTATCTCTGAAGATAATGACAAGCAATTCAAGCAATGAAAAATTCAAATATACATTTGCTTCGCCACATAACTACGTCACTGCTGGTGGATACATGAAAGAGGAACCCATACTATTCTGGCTGATGCCCAGCTTCCCAGGAATTAGTGGGATATAGTGCTGGACATGACGTTACCTTGAGTACATGACAGTCAGCCCCTAACCAGGCTCTG... | TTCTACTTATATTTTAAAAAAATATTTGGAGGTCTTTGAGAATTTGTATGCTCATAGGACAAACTTGCTATTAGTAGTATTTAGGAATTAGAGGTAAAACTCTATGTTATTATCTCTGAAGATAATGACAAGCAATTCAAGCAATGAAAAATTCAAATATACATTTGCTTCGCCACATAACTACGTCACTGCTGGTGGATACATGAAAGAGGAACCCATACTATTCTGGCTGATGCCCAGCTTCCCAGGAATTAGTGGGATATAGTGCTGGACATGACGTTACCTTGAGTACATGACAGTCAGCCCCTAACCAGGCTCTG... |
Task1_train_10649 | Assess the clinical impact of this variant on gene GRIK2 (glutamate ionotropic receptor kainate type subunit 2), found on Chromosome 6. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Intellectual disability | TTCTACTTATATTTTAAAAAAATATTTGGAGGTCTTTGAGAATTTGTATGCTCATAGGACAAACTTGCTATTAGTAGTATTTAGGAATTAGAGGTAAAACTCTATGTTATTATCTCTGAAGATAATGACAAGCAATTCAAGCAATGAAAAATTCAAATATACATTTGCTTCGCCACATAACTACGTCACTGCTGGTGGATACATGAAAGAGGAACCCATACTATTCTGGCTGATGCCCAGCTTCCCAGGAATTAGTGGGATATAGTGCTGGACATGACGTTACCTTGAGTACATGACAGTCAGCCCCTAACCAGGCTCTG... | TTCTACTTATATTTTAAAAAAATATTTGGAGGTCTTTGAGAATTTGTATGCTCATAGGACAAACTTGCTATTAGTAGTATTTAGGAATTAGAGGTAAAACTCTATGTTATTATCTCTGAAGATAATGACAAGCAATTCAAGCAATGAAAAATTCAAATATACATTTGCTTCGCCACATAACTACGTCACTGCTGGTGGATACATGAAAGAGGAACCCATACTATTCTGGCTGATGCCCAGCTTCCCAGGAATTAGTGGGATATAGTGCTGGACATGACGTTACCTTGAGTACATGACAGTCAGCCCCTAACCAGGCTCTG... |
Task1_train_10650 | Here is a variant affecting GRIK2 (glutamate ionotropic receptor kainate type subunit 2) on Chromosome 6. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Severe global developmental delay | TTCTACTTATATTTTAAAAAAATATTTGGAGGTCTTTGAGAATTTGTATGCTCATAGGACAAACTTGCTATTAGTAGTATTTAGGAATTAGAGGTAAAACTCTATGTTATTATCTCTGAAGATAATGACAAGCAATTCAAGCAATGAAAAATTCAAATATACATTTGCTTCGCCACATAACTACGTCACTGCTGGTGGATACATGAAAGAGGAACCCATACTATTCTGGCTGATGCCCAGCTTCCCAGGAATTAGTGGGATATAGTGCTGGACATGACGTTACCTTGAGTACATGACAGTCAGCCCCTAACCAGGCTCTG... | TTCTACTTATATTTTAAAAAAATATTTGGAGGTCTTTGAGAATTTGTATGCTCATAGGACAAACTTGCTATTAGTAGTATTTAGGAATTAGAGGTAAAACTCTATGTTATTATCTCTGAAGATAATGACAAGCAATTCAAGCAATGAAAAATTCAAATATACATTTGCTTCGCCACATAACTACGTCACTGCTGGTGGATACATGAAAGAGGAACCCATACTATTCTGGCTGATGCCCAGCTTCCCAGGAATTAGTGGGATATAGTGCTGGACATGACGTTACCTTGAGTACATGACAGTCAGCCCCTAACCAGGCTCTG... |
Task1_train_10651 | Given a variant located on Chromosome 6 and affecting GRIK2 (glutamate ionotropic receptor kainate type subunit 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Hyperintensity of cerebral white matter on MRI | TTCTACTTATATTTTAAAAAAATATTTGGAGGTCTTTGAGAATTTGTATGCTCATAGGACAAACTTGCTATTAGTAGTATTTAGGAATTAGAGGTAAAACTCTATGTTATTATCTCTGAAGATAATGACAAGCAATTCAAGCAATGAAAAATTCAAATATACATTTGCTTCGCCACATAACTACGTCACTGCTGGTGGATACATGAAAGAGGAACCCATACTATTCTGGCTGATGCCCAGCTTCCCAGGAATTAGTGGGATATAGTGCTGGACATGACGTTACCTTGAGTACATGACAGTCAGCCCCTAACCAGGCTCTG... | TTCTACTTATATTTTAAAAAAATATTTGGAGGTCTTTGAGAATTTGTATGCTCATAGGACAAACTTGCTATTAGTAGTATTTAGGAATTAGAGGTAAAACTCTATGTTATTATCTCTGAAGATAATGACAAGCAATTCAAGCAATGAAAAATTCAAATATACATTTGCTTCGCCACATAACTACGTCACTGCTGGTGGATACATGAAAGAGGAACCCATACTATTCTGGCTGATGCCCAGCTTCCCAGGAATTAGTGGGATATAGTGCTGGACATGACGTTACCTTGAGTACATGACAGTCAGCCCCTAACCAGGCTCTG... |
Task1_train_10652 | Gene HACE1 (HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1) on Chromosome 6 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Spastic paraplegia-severe developmental delay-epilepsy syndrome | ACACTGAAGTCTTATGACTAAGTCGCCTACTGAAATGACAGCAGAGTGTTTATCCCTGCTCTGCACTAATCTCTCCTTTCATTAACATAGTTGTTGAAACAGAGTACTATGATATTTTTCTACATGTAACCTTTTCAAGACCTTTGTCGATACCCTATCAACACGTGGAATAATGTACCTAGACCTGAGATCAATTCAGCAAGGGAATGAATGATTTACTCTATGACCTTGGGTGTGACACATTACAAGATATCTAACATGGCTAATTATAAAAACAACTGTTTAATCAGCACATTGTTACCTATGAGAACAGTGGACAA... | ACACTGAAGTCTTATGACTAAGTCGCCTACTGAAATGACAGCAGAGTGTTTATCCCTGCTCTGCACTAATCTCTCCTTTCATTAACATAGTTGTTGAAACAGAGTACTATGATATTTTTCTACATGTAACCTTTTCAAGACCTTTGTCGATACCCTATCAACACGTGGAATAATGTACCTAGACCTGAGATCAATTCAGCAAGGGAATGAATGATTTACTCTATGACCTTGGGTGTGACACATTACAAGATATCTAACATGGCTAATTATAAAAACAACTGTTTAATCAGCACATTGTTACCTATGAGAACAGTGGACAA... |
Task1_train_10653 | A mutation in BVES (popeye domain cAMP effector 1), located on Chromosome 6, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2X | CCATCCTCAAATCCCAGTCTCTTCAGGATTATATGAGATAGTTATCACACAAAACCACCTGCTACTATACACAGAGAAATACAGGCAAAAGATAAATGTTGGGCTTTGGAAGAAGAAACTGTAAAAAGGTCACAGCAAAGAAGGAGAGAAAGAAGATGCGGCCCTGCACGTTTGTAGATCGCGGTGATTAAAGATAAACTAAGAACATAAATCTCACATCAAAGCTGACCCTCACAACAAGGTGAGAGTGTAAAGACAGGAGCCAGGACACAGCATTAGCTGTCTCCTTCTGCATTGTAAGTCCAGCCAGCTTGGGAAGA... | CCATCCTCAAATCCCAGTCTCTTCAGGATTATATGAGATAGTTATCACACAAAACCACCTGCTACTATACACAGAGAAATACAGGCAAAAGATAAATGTTGGGCTTTGGAAGAAGAAACTGTAAAAAGGTCACAGCAAAGAAGGAGAGAAAGAAGATGCGGCCCTGCACGTTTGTAGATCGCGGTGATTAAAGATAAACTAAGAACATAAATCTCACATCAAAGCTGACCCTCACAACAAGGTGAGAGTGTAAAGACAGGAGCCAGGACACAGCATTAGCTGTCTCCTTCTGCATTGTAAGTCCAGCCAGCTTGGGAAGA... |
Task1_train_10654 | A mutation in BVES (popeye domain cAMP effector 1), located on Chromosome 6, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2X | CCTCAGTCTCCCAAATAGCTGGGACCACAGATGCATGCCACCATGCCTAGATAATTTTTAAATGTTTTGTAGACAGAAGGTCTCACTACATTGCCCAGGCTGGTTTTGAACTCCTGGCTTCAAGAGATACTCTCACTTCAGCCTCTCAAAGTGCTAGGACTACAGGCGTTAGCCACTATGCCTGGCCTAGATTTCTCTTTCTGCATTTACAGAATAAAGTGTTAGATTTGATAATATCTTTGGTTCATTCCACCTCCAAAACTCTGTCTTAAAATTCATAATTGATGTTTGCTTTTTTATAGGGTACGGTATTTTTTTTT... | CCTCAGTCTCCCAAATAGCTGGGACCACAGATGCATGCCACCATGCCTAGATAATTTTTAAATGTTTTGTAGACAGAAGGTCTCACTACATTGCCCAGGCTGGTTTTGAACTCCTGGCTTCAAGAGATACTCTCACTTCAGCCTCTCAAAGTGCTAGGACTACAGGCGTTAGCCACTATGCCTGGCCTAGATTTCTCTTTCTGCATTTACAGAATAAAGTGTTAGATTTGATAATATCTTTGGTTCATTCCACCTCCAAAACTCTGTCTTAAAATTCATAATTGATGTTTGCTTTTTTATAGGGTACGGTATTTTTTTTT... |
Task1_train_10655 | The gene BVES-AS1, POPDC3 (POPDC1 antisense RNA 1| popeye domain cAMP effector 3) on Chromosome 6 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Muscular dystrophy, limb-girdle, autosomal recessive 26 | AAACTGCTCTTGTTAAGTTCCCCAGTGACTTCCATGTTGCTTAACCCGATGGTTCATTCTCAGGCCTCTCAGCCACATCTGAGACAGTTCATCACTCCCTTCTCCCAGAAATTCTCTTTGCTTGGCTTCCAGGATCCCAGGCTCTCCTGATTTTCTTTCTACCTCATTGGCTGCTCTTCCTCAGATCCTTTGCTGATTCTTCCCCCATCGCTTTGTCCCCTTAACAATGGAGTGCTCCAAGGTAAGCCTCAGACCATTTTTCTTCTGAATCTACACTCACTCTTTTGGCCATCTCATGGAGACTCATGGCTTTAAATACC... | AAACTGCTCTTGTTAAGTTCCCCAGTGACTTCCATGTTGCTTAACCCGATGGTTCATTCTCAGGCCTCTCAGCCACATCTGAGACAGTTCATCACTCCCTTCTCCCAGAAATTCTCTTTGCTTGGCTTCCAGGATCCCAGGCTCTCCTGATTTTCTTTCTACCTCATTGGCTGCTCTTCCTCAGATCCTTTGCTGATTCTTCCCCCATCGCTTTGTCCCCTTAACAATGGAGTGCTCCAAGGTAAGCCTCAGACCATTTTTCTTCTGAATCTACACTCACTCTTTTGGCCATCTCATGGAGACTCATGGCTTTAAATACC... |
Task1_train_10656 | Here is a mutation in BVES-AS1, POPDC3 (POPDC1 antisense RNA 1| popeye domain cAMP effector 3) on Chromosome 6. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Muscular dystrophy, limb-girdle, autosomal recessive 26 | GGATCCCAGGCTCTCCTGATTTTCTTTCTACCTCATTGGCTGCTCTTCCTCAGATCCTTTGCTGATTCTTCCCCCATCGCTTTGTCCCCTTAACAATGGAGTGCTCCAAGGTAAGCCTCAGACCATTTTTCTTCTGAATCTACACTCACTCTTTTGGCCATCTCATGGAGACTCATGGCTTTAAATACCATGTATATGCTAAATACTCCCAAAGCTGTCTCTACAGCGCAGACTTTTCTTTGAAACTCCAGGCTCATATCTCCAGCTGTCTACTCTACTTCAGCGTCTAGCAGGCATCTCACTCTTAATCCTCATTTTAC... | GGATCCCAGGCTCTCCTGATTTTCTTTCTACCTCATTGGCTGCTCTTCCTCAGATCCTTTGCTGATTCTTCCCCCATCGCTTTGTCCCCTTAACAATGGAGTGCTCCAAGGTAAGCCTCAGACCATTTTTCTTCTGAATCTACACTCACTCTTTTGGCCATCTCATGGAGACTCATGGCTTTAAATACCATGTATATGCTAAATACTCCCAAAGCTGTCTCTACAGCGCAGACTTTTCTTTGAAACTCCAGGCTCATATCTCCAGCTGTCTACTCTACTTCAGCGTCTAGCAGGCATCTCACTCTTAATCCTCATTTTAC... |
Task1_train_10657 | A mutation found in BVES-AS1, POPDC3 (POPDC1 antisense RNA 1| popeye domain cAMP effector 3) on Chromosome 6 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Muscular dystrophy, limb-girdle, autosomal recessive 26 | TTAGCAGTGTTTAGTCAAATCTCAATTATATTTTAATTCCTAAATACGCAGTTATGCAAAGTAAAGCTTAAAGTATTGATCACAGCCTCCTTCCTGTCATATGTAGCACCTGTTCTTCTCATCGCTGGACCTATAAAGTGGCATTAATCATCAAGAGTCCAGCAGAATTGGGAAAGTCATGTATGCTGCAAAGTACATTCCAAAGTCTTAAAATATTCTTGTCTTATCCACTGTTGTTTATTTGTTTACTTATTTTTAAACAAACATCTGTTTGAAAGAGGGAGTGCTAACTGTGTGTTCTGGTATCCCTTACCTGAAAA... | TTAGCAGTGTTTAGTCAAATCTCAATTATATTTTAATTCCTAAATACGCAGTTATGCAAAGTAAAGCTTAAAGTATTGATCACAGCCTCCTTCCTGTCATATGTAGCACCTGTTCTTCTCATCGCTGGACCTATAAAGTGGCATTAATCATCAAGAGTCCAGCAGAATTGGGAAAGTCATGTATGCTGCAAAGTACATTCCAAAGTCTTAAAATATTCTTGTCTTATCCACTGTTGTTTATTTGTTTACTTATTTTTAAACAAACATCTGTTTGAAAGAGGGAGTGCTAACTGTGTGTTCTGGTATCCCTTACCTGAAAA... |
Task1_train_10658 | This variant affects the gene ATG5 (autophagy related 5) found on Chromosome 6. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Spinocerebellar ataxia, autosomal recessive 25 | AATCGCTTGAACCTGGAAGGCAAAGGATGCAGTGAGCTGAGATTGTGCCACTGCATTCCAGCCTGGGTGACAGAGTGAAACTTCGTCTCAACAAAACAAAACAAAACACCACAATAAATGTATACTGAACAATAACAAGTTAAAAGAAATCCTAATATTTATTTAGTACTTATAATTTAACACATTAGAAACACTGAGAACTGTTTTATTTTTAAATTTTATTAATTATTTTTTTTTAGAGACAGGGTCTCACTCTGTCACTCAGAGTGGAGTGTGGTGGCACAATCATGGCTCACTGTAACCTTGAACTCCTTGGGCTC... | AATCGCTTGAACCTGGAAGGCAAAGGATGCAGTGAGCTGAGATTGTGCCACTGCATTCCAGCCTGGGTGACAGAGTGAAACTTCGTCTCAACAAAACAAAACAAAACACCACAATAAATGTATACTGAACAATAACAAGTTAAAAGAAATCCTAATATTTATTTAGTACTTATAATTTAACACATTAGAAACACTGAGAACTGTTTTATTTTTAAATTTTATTAATTATTTTTTTTTAGAGACAGGGTCTCACTCTGTCACTCAGAGTGGAGTGTGGTGGCACAATCATGGCTCACTGTAACCTTGAACTCCTTGGGCTC... |
Task1_train_10659 | This mutation occurs in RTN4IP1 (reticulon 4 interacting protein 1) on Chromosome 6. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Optic atrophy 10 with or without ataxia, intellectual disability, and seizures | AACCAAAGCAGGTAGGAGAGTCAGAAGCATGACAATGAGGCTTTAACTACGTGCACAATCAGAAAGACATTGAAAACTACTTAAAAGGTTTTCACATGAGATTACCACTATCATCTTTCAAGTAGGAGGAAAAGAGAATGAAGAGAGCTGTGCCTGTTTTACTCTCCGAGGACAACTCTGAAGGTTAACTTGTAAGAGGTCTCACTGGAGTACAAACTGAAATCTTACAGAAAACTTAAACTTACATTTTAAAGCACTGGAAAATCTGGGTTTTGTGAAAGAGAAAGAAGAGACAAGGGACAGCTAAGAGCCCTTTCTCC... | AACCAAAGCAGGTAGGAGAGTCAGAAGCATGACAATGAGGCTTTAACTACGTGCACAATCAGAAAGACATTGAAAACTACTTAAAAGGTTTTCACATGAGATTACCACTATCATCTTTCAAGTAGGAGGAAAAGAGAATGAAGAGAGCTGTGCCTGTTTTACTCTCCGAGGACAACTCTGAAGGTTAACTTGTAAGAGGTCTCACTGGAGTACAAACTGAAATCTTACAGAAAACTTAAACTTACATTTTAAAGCACTGGAAAATCTGGGTTTTGTGAAAGAGAAAGAAGAGACAAGGGACAGCTAAGAGCCCTTTCTCC... |
Task1_train_10660 | A mutation in RTN4IP1 (reticulon 4 interacting protein 1), located on Chromosome 6, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Optic atrophy 10 with or without ataxia, intellectual disability, and seizures | ATGTGTCCTACAGATCACAACATGTGAATGCAGCAGAAGTCCATGATGTGAATTGTTGAGACTCTTTGCAATGGGTTTCACTCTAGATTGGTTAACATTGGCTAAATCAATAAACAGACCCAACTCAATACAAGATATCATCACCTAATAAGGTCTAAAACTTTCCATTTCTCAAAGCTCTCCTCAAAACCTACACTGTCCTATACTCATAAACTCAGAGGAAACCACAAAGAGACCATAAATATATAGCATGTGGTCACCTGGTTAGTTAATGGCAGAACAGGACCCAGGGCTCCAACTTCCCAGTTCCAGGCCATTGT... | ATGTGTCCTACAGATCACAACATGTGAATGCAGCAGAAGTCCATGATGTGAATTGTTGAGACTCTTTGCAATGGGTTTCACTCTAGATTGGTTAACATTGGCTAAATCAATAAACAGACCCAACTCAATACAAGATATCATCACCTAATAAGGTCTAAAACTTTCCATTTCTCAAAGCTCTCCTCAAAACCTACACTGTCCTATACTCATAAACTCAGAGGAAACCACAAAGAGACCATAAATATATAGCATGTGGTCACCTGGTTAGTTAATGGCAGAACAGGACCCAGGGCTCCAACTTCCCAGTTCCAGGCCATTGT... |
Task1_train_10661 | This mutation is located in gene RTN4IP1 (reticulon 4 interacting protein 1) on Chromosome 6. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Optic atrophy | AGCTGTTTCCTTTACTCTCATTTTCTGGAAAGGAAATCTTTCTAGGTTTTCTCTAATCTCAGTAATAACCTTTTCCCCCTTCCTGCCCTCCCTTCTGTAGCCAATTTCCTCAATGTTAACCCCTTTCTCTCTATTCAATTTGTTGGTCTCCTGACTGTATTTGATTAGACTCCTGTTTTTAAAGTTATTCAAAACCGCTGGATATTTCCATGTCTCCACTGATGACTAATCCATCCTCTCTACTGCCTATATCTGTTTTCAACTATTTATCTAGGGTAAAACCAAGCAACACAGCAGGGTTCTAGGTCTCATTCCAAATC... | AGCTGTTTCCTTTACTCTCATTTTCTGGAAAGGAAATCTTTCTAGGTTTTCTCTAATCTCAGTAATAACCTTTTCCCCCTTCCTGCCCTCCCTTCTGTAGCCAATTTCCTCAATGTTAACCCCTTTCTCTCTATTCAATTTGTTGGTCTCCTGACTGTATTTGATTAGACTCCTGTTTTTAAAGTTATTCAAAACCGCTGGATATTTCCATGTCTCCACTGATGACTAATCCATCCTCTCTACTGCCTATATCTGTTTTCAACTATTTATCTAGGGTAAAACCAAGCAACACAGCAGGGTTCTAGGTCTCATTCCAAATC... |
Task1_train_10662 | This alteration in RTN4IP1 (reticulon 4 interacting protein 1) on Chromosome 6 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Optic atrophy 10 with or without ataxia, intellectual disability, and seizures | AGCTGTTTCCTTTACTCTCATTTTCTGGAAAGGAAATCTTTCTAGGTTTTCTCTAATCTCAGTAATAACCTTTTCCCCCTTCCTGCCCTCCCTTCTGTAGCCAATTTCCTCAATGTTAACCCCTTTCTCTCTATTCAATTTGTTGGTCTCCTGACTGTATTTGATTAGACTCCTGTTTTTAAAGTTATTCAAAACCGCTGGATATTTCCATGTCTCCACTGATGACTAATCCATCCTCTCTACTGCCTATATCTGTTTTCAACTATTTATCTAGGGTAAAACCAAGCAACACAGCAGGGTTCTAGGTCTCATTCCAAATC... | AGCTGTTTCCTTTACTCTCATTTTCTGGAAAGGAAATCTTTCTAGGTTTTCTCTAATCTCAGTAATAACCTTTTCCCCCTTCCTGCCCTCCCTTCTGTAGCCAATTTCCTCAATGTTAACCCCTTTCTCTCTATTCAATTTGTTGGTCTCCTGACTGTATTTGATTAGACTCCTGTTTTTAAAGTTATTCAAAACCGCTGGATATTTCCATGTCTCCACTGATGACTAATCCATCCTCTCTACTGCCTATATCTGTTTTCAACTATTTATCTAGGGTAAAACCAAGCAACACAGCAGGGTTCTAGGTCTCATTCCAAATC... |
Task1_train_10663 | A mutation found in RTN4IP1 (reticulon 4 interacting protein 1) on Chromosome 6 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Optic atrophy 10 with or without ataxia, intellectual disability, and seizures | AAAACAGCCAGCCTTCATCTTTCAAATAAAATAGACATGTCTCTTGCTTTCTTGCCAAGGGAAATAACTGCTTCCTACAGTTTACAGTCTTCTACTCATTATTTTATTTCCCCAAGCTACTGTTTCAGATATCTTCTGCAATGACAATAAATATCCTCAAAAGGTAGGAGAAAAAAAAAAAGAGGATAACTTGCGAATAATATTACCCATTCAAGTCATAAAAAACTAAGATGTTTCAAGAATACTATATAAAAGTAAAATGTTTTACAGTGTTATATTATTAAACAGCAGCCAAGAAAAGTCTAGATACAGCCATTCTG... | AAAACAGCCAGCCTTCATCTTTCAAATAAAATAGACATGTCTCTTGCTTTCTTGCCAAGGGAAATAACTGCTTCCTACAGTTTACAGTCTTCTACTCATTATTTTATTTCCCCAAGCTACTGTTTCAGATATCTTCTGCAATGACAATAAATATCCTCAAAAGGTAGGAGAAAAAAAAAAAGAGGATAACTTGCGAATAATATTACCCATTCAAGTCATAAAAAACTAAGATGTTTCAAGAATACTATATAAAAGTAAAATGTTTTACAGTGTTATATTATTAAACAGCAGCCAAGAAAAGTCTAGATACAGCCATTCTG... |
Task1_train_10664 | A mutation found in QRSL1 (glutaminyl-tRNA amidotransferase subunit QRSL1) on Chromosome 6 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Combined oxidative phosphorylation deficiency 40 | TAATTATATCTTTGAAGGAAATATTTAGAATATAATATCATGTTTTTTTACTATTTGCTCTTTTAGAATGCAGAATTTTTCTTTAGAGGTCAGCCAGCTTAATGAATGCTATCTCAGAAGTTTTCAAAAATTCTATTAATATTTAGGAAGACTCAGTTCAATAACTAATTACCAACTGGGTGCATACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGAATCACTTGAGCTCAGGAGTTTGAGTCCAGCCTGGGCAACATAGTGAGACCTCATCTCTAAAAAACGAAATAAAAAAACTGATTACCATAAACGTAC... | TAATTATATCTTTGAAGGAAATATTTAGAATATAATATCATGTTTTTTTACTATTTGCTCTTTTAGAATGCAGAATTTTTCTTTAGAGGTCAGCCAGCTTAATGAATGCTATCTCAGAAGTTTTCAAAAATTCTATTAATATTTAGGAAGACTCAGTTCAATAACTAATTACCAACTGGGTGCATACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGAATCACTTGAGCTCAGGAGTTTGAGTCCAGCCTGGGCAACATAGTGAGACCTCATCTCTAAAAAACGAAATAAAAAAACTGATTACCATAAACGTAC... |
Task1_train_10665 | Given this variant in gene QRSL1 (glutaminyl-tRNA amidotransferase subunit QRSL1) on Chromosome 6, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Cardiomyopathy, mitochondrial | CTCCAGCCTGGGTGACAGAGCAAGACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAATTAATAGACTTCATTAAAATTAAGAACTTCTGTACTTTGAAATATGCTACTAAAAAAGTGAAAACGCAAGCCACAGACTGAGAGAAAAATATTTGCAAAACATGTATCTCAGAAAGAACCGATATCCAAAATACATAGAACATTTCACACCTCAATAAGAAAACAAGCAACCCTATTTTTAAAAAATGAACAAAAGATTTAAGAAGACGTTTCATCAGAGATTAAAACATAGTTGACAAACACATGAAACAATGCTTA... | CTCCAGCCTGGGTGACAGAGCAAGACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAATTAATAGACTTCATTAAAATTAAGAACTTCTGTACTTTGAAATATGCTACTAAAAAAGTGAAAACGCAAGCCACAGACTGAGAGAAAAATATTTGCAAAACATGTATCTCAGAAAGAACCGATATCCAAAATACATAGAACATTTCACACCTCAATAAGAAAACAAGCAACCCTATTTTTAAAAAATGAACAAAAGATTTAAGAAGACGTTTCATCAGAGATTAAAACATAGTTGACAAACACATGAAACAATGCTTA... |
Task1_train_10666 | This is a variant in QRSL1 (glutaminyl-tRNA amidotransferase subunit QRSL1), located on Chromosome 6. Is this mutation a likely cause of disease or not? | Pathogenic; Combined oxidative phosphorylation deficiency 40 | CTCCAGCCTGGGTGACAGAGCAAGACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAATTAATAGACTTCATTAAAATTAAGAACTTCTGTACTTTGAAATATGCTACTAAAAAAGTGAAAACGCAAGCCACAGACTGAGAGAAAAATATTTGCAAAACATGTATCTCAGAAAGAACCGATATCCAAAATACATAGAACATTTCACACCTCAATAAGAAAACAAGCAACCCTATTTTTAAAAAATGAACAAAAGATTTAAGAAGACGTTTCATCAGAGATTAAAACATAGTTGACAAACACATGAAACAATGCTTA... | CTCCAGCCTGGGTGACAGAGCAAGACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAATTAATAGACTTCATTAAAATTAAGAACTTCTGTACTTTGAAATATGCTACTAAAAAAGTGAAAACGCAAGCCACAGACTGAGAGAAAAATATTTGCAAAACATGTATCTCAGAAAGAACCGATATCCAAAATACATAGAACATTTCACACCTCAATAAGAAAACAAGCAACCCTATTTTTAAAAAATGAACAAAAGATTTAAGAAGACGTTTCATCAGAGATTAAAACATAGTTGACAAACACATGAAACAATGCTTA... |
Task1_train_10667 | This variant lies on Chromosome 6 and affects the gene ARMC2 (armadillo repeat containing 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Male infertility with teratozoospermia due to single gene mutation | GCTCCTGGCTCAGGATGCCAAGATGGACCTAGGCAGTGTTCCCCTCTGCCTTGTGAATGGCCTTCTGTGCTCCAAGATGGGGTGTGTGTATGTCTAATGGAAACAGTGAATCTTGAGTAATCACTTCTGTCTGGGGGCATATTCTTAAGAAGACATTCTCTTTTATGTACTAGAATGTCTATTACATTTTGCTTATAATAGCAAAAAGTAGAAACAACCTAAATGTTCCTCAACAGAGAAGAGGACAAATTCATTATGGTATATTCATGCAATAAAATGTTCTCTAGCATTTAAAAGCAATAGGAGGATATATGCAGAGG... | GCTCCTGGCTCAGGATGCCAAGATGGACCTAGGCAGTGTTCCCCTCTGCCTTGTGAATGGCCTTCTGTGCTCCAAGATGGGGTGTGTGTATGTCTAATGGAAACAGTGAATCTTGAGTAATCACTTCTGTCTGGGGGCATATTCTTAAGAAGACATTCTCTTTTATGTACTAGAATGTCTATTACATTTTGCTTATAATAGCAAAAAGTAGAAACAACCTAAATGTTCCTCAACAGAGAAGAGGACAAATTCATTATGGTATATTCATGCAATAAAATGTTCTCTAGCATTTAAAAGCAATAGGAGGATATATGCAGAGG... |
Task1_train_10668 | Here is a genetic alteration in ARMC2 (armadillo repeat containing 2) on Chromosome 6. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Spermatogenic failure 38 | GCTCCTGGCTCAGGATGCCAAGATGGACCTAGGCAGTGTTCCCCTCTGCCTTGTGAATGGCCTTCTGTGCTCCAAGATGGGGTGTGTGTATGTCTAATGGAAACAGTGAATCTTGAGTAATCACTTCTGTCTGGGGGCATATTCTTAAGAAGACATTCTCTTTTATGTACTAGAATGTCTATTACATTTTGCTTATAATAGCAAAAAGTAGAAACAACCTAAATGTTCCTCAACAGAGAAGAGGACAAATTCATTATGGTATATTCATGCAATAAAATGTTCTCTAGCATTTAAAAGCAATAGGAGGATATATGCAGAGG... | GCTCCTGGCTCAGGATGCCAAGATGGACCTAGGCAGTGTTCCCCTCTGCCTTGTGAATGGCCTTCTGTGCTCCAAGATGGGGTGTGTGTATGTCTAATGGAAACAGTGAATCTTGAGTAATCACTTCTGTCTGGGGGCATATTCTTAAGAAGACATTCTCTTTTATGTACTAGAATGTCTATTACATTTTGCTTATAATAGCAAAAAGTAGAAACAACCTAAATGTTCCTCAACAGAGAAGAGGACAAATTCATTATGGTATATTCATGCAATAAAATGTTCTCTAGCATTTAAAAGCAATAGGAGGATATATGCAGAGG... |
Task1_train_10669 | Gene ZBTB24 (zinc finger and BTB domain containing 24) on Chromosome 6 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | ACATCTTCAATGGCCGGCTGGCTCACTCCCCCACTGCATTCTCATCTCCATCCAAGATGCCACCTCATCTGTGAGACCTTCCCAAACCAGTCCATGCATAAAAGAGCAACTCTCTTTCCGGCATCCCGCCCCCTTACCTTGCATTTTATTCTTCAACGCACTCACAACACCAAATGTGTTATATACTTGTCTGTACTCTGTCTTCCCTATTGAATGTTGGCCCCTTAAGGCAGGGGCCTGTCCATCTCATTCACTGCTGTATCCTCAAAGCCTAAAACAATGTCTGGTTCCCAGTAAGTGCTCAGTACATGTGTTAAAAT... | ACATCTTCAATGGCCGGCTGGCTCACTCCCCCACTGCATTCTCATCTCCATCCAAGATGCCACCTCATCTGTGAGACCTTCCCAAACCAGTCCATGCATAAAAGAGCAACTCTCTTTCCGGCATCCCGCCCCCTTACCTTGCATTTTATTCTTCAACGCACTCACAACACCAAATGTGTTATATACTTGTCTGTACTCTGTCTTCCCTATTGAATGTTGGCCCCTTAAGGCAGGGGCCTGTCCATCTCATTCACTGCTGTATCCTCAAAGCCTAAAACAATGTCTGGTTCCCAGTAAGTGCTCAGTACATGTGTTAAAAT... |
Task1_train_10670 | This gene mutation involves FIG4 (FIG4 phosphoinositide 5-phosphatase) on Chromosome 6. Is it associated with any clinical condition, or is it benign? | Pathogenic; Charcot-Marie-Tooth disease type 4 | AAAATGTTAGCATGTGCGACTTTTTGCCTAAGGGCTTTCTCTGGCTGCCAGAACCTACTCTCCCTGAACACAGGGTAGACTGGAAGTTCTAGGGCATCAATGTTCTGCCCTATCAGGCTTCATCCAATAACTGATGGAAGTTGGCGAATAAATACTCCAGCTTCCTTGCCCCTCAAGAGGGGATAACTGAGACATGCCTCCCAGTATTCCCTAGTGAATTCAGCCCACAGAGAAATTTCTCTGGTAATATTTCCTTTATTAGTTTTCTTCCCCTCCCTGCTGCTGTTTCCTGGGATTACGTCTCATATAAACAACCTGCC... | AAAATGTTAGCATGTGCGACTTTTTGCCTAAGGGCTTTCTCTGGCTGCCAGAACCTACTCTCCCTGAACACAGGGTAGACTGGAAGTTCTAGGGCATCAATGTTCTGCCCTATCAGGCTTCATCCAATAACTGATGGAAGTTGGCGAATAAATACTCCAGCTTCCTTGCCCCTCAAGAGGGGATAACTGAGACATGCCTCCCAGTATTCCCTAGTGAATTCAGCCCACAGAGAAATTTCTCTGGTAATATTTCCTTTATTAGTTTTCTTCCCCTCCCTGCTGCTGTTTCCTGGGATTACGTCTCATATAAACAACCTGCC... |
Task1_train_10671 | This genomic variant is located on Chromosome 6, within the FIG4 (FIG4 phosphoinositide 5-phosphatase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Amyotrophic lateral sclerosis | GTGTAGTGACTGCTGGTCACTATGCTTTGATGGGTGGTGTCAGCCAAAGCATTTCATGGTGCGGTGGCGGTGGGATATGTCCTCATTCGCATGTGCCAGTGGCAGCGAAAGCATGGTGGCTGCAGCAGGATGCCAGCAGGTGCCTGCCTCCATGTGGGCATTCACAGCAGCAGCAGAGGCAGCATGGCTGAGGGGGCGGGGGAGGCCCTGCTGGTGACTGTGCATGCAGTCATCATGGTGATCCTGTTAGCACAGGGGCAGGGCACTGGTAGGTGCAGGTCTATATACACTCTCTGTGTGCTGCAGGCAGTGGTGGTCAC... | GTGTAGTGACTGCTGGTCACTATGCTTTGATGGGTGGTGTCAGCCAAAGCATTTCATGGTGCGGTGGCGGTGGGATATGTCCTCATTCGCATGTGCCAGTGGCAGCGAAAGCATGGTGGCTGCAGCAGGATGCCAGCAGGTGCCTGCCTCCATGTGGGCATTCACAGCAGCAGCAGAGGCAGCATGGCTGAGGGGGCGGGGGAGGCCCTGCTGGTGACTGTGCATGCAGTCATCATGGTGATCCTGTTAGCACAGGGGCAGGGCACTGGTAGGTGCAGGTCTATATACACTCTCTGTGTGCTGCAGGCAGTGGTGGTCAC... |
Task1_train_10672 | A mutation in FIG4 (FIG4 phosphoinositide 5-phosphatase), located on Chromosome 6, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Amyotrophic lateral sclerosis | TTTAGAGTAATTTTTTTTTAAAATTTAAGTTCTGGGATACATGTGCAGAATGTGCAGGTTTGTTACATAGGTATACACACATGCTGTGGTGGTTTGCTGTACCTATCAACCCACCATCTAGGTTTTGAGCCCCACATGCGTTAGGTATTTGTCCTAATGCTCTTCCTCTCCTTGCCCCCACCCCTCGACAGGCCCTGGTGTGTGATGTTCCCCTCCCTATGTCTATGTGTTCTCATTGTTCAGCTCCCACTTATGAGTGAGAACATGCGGTATTTGGTTTTCTGTTCCTGTGTCAGTTTGCTGAGAATGATGGTTTCCTG... | TTTAGAGTAATTTTTTTTTAAAATTTAAGTTCTGGGATACATGTGCAGAATGTGCAGGTTTGTTACATAGGTATACACACATGCTGTGGTGGTTTGCTGTACCTATCAACCCACCATCTAGGTTTTGAGCCCCACATGCGTTAGGTATTTGTCCTAATGCTCTTCCTCTCCTTGCCCCCACCCCTCGACAGGCCCTGGTGTGTGATGTTCCCCTCCCTATGTCTATGTGTTCTCATTGTTCAGCTCCCACTTATGAGTGAGAACATGCGGTATTTGGTTTTCTGTTCCTGTGTCAGTTTGCTGAGAATGATGGTTTCCTG... |
Task1_train_10673 | A variant on Chromosome 6 in gene FIG4 (FIG4 phosphoinositide 5-phosphatase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Yunis-Varon syndrome | TTTAGAGTAATTTTTTTTTAAAATTTAAGTTCTGGGATACATGTGCAGAATGTGCAGGTTTGTTACATAGGTATACACACATGCTGTGGTGGTTTGCTGTACCTATCAACCCACCATCTAGGTTTTGAGCCCCACATGCGTTAGGTATTTGTCCTAATGCTCTTCCTCTCCTTGCCCCCACCCCTCGACAGGCCCTGGTGTGTGATGTTCCCCTCCCTATGTCTATGTGTTCTCATTGTTCAGCTCCCACTTATGAGTGAGAACATGCGGTATTTGGTTTTCTGTTCCTGTGTCAGTTTGCTGAGAATGATGGTTTCCTG... | TTTAGAGTAATTTTTTTTTAAAATTTAAGTTCTGGGATACATGTGCAGAATGTGCAGGTTTGTTACATAGGTATACACACATGCTGTGGTGGTTTGCTGTACCTATCAACCCACCATCTAGGTTTTGAGCCCCACATGCGTTAGGTATTTGTCCTAATGCTCTTCCTCTCCTTGCCCCCACCCCTCGACAGGCCCTGGTGTGTGATGTTCCCCTCCCTATGTCTATGTGTTCTCATTGTTCAGCTCCCACTTATGAGTGAGAACATGCGGTATTTGGTTTTCTGTTCCTGTGTCAGTTTGCTGAGAATGATGGTTTCCTG... |
Task1_train_10674 | Gene FIG4 (FIG4 phosphoinositide 5-phosphatase) on Chromosome 6 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Amyotrophic lateral sclerosis | CAGTTTCCTGAGAAGGAATATGGCATTGAACATACATGAAAATATGTCCTAAGAAAATAACCAGGAGCAAAAATACAACTCTCCATTGGTAAAGAGACATTTATTGCTTCTCTATTTATAATAGCCCAAACAAGCAAACCAGATAATCCAGGGACGTCCCAAATATTGATAATTGAAGAACAGGCAAGTAGATTATTACAGCATCATGATAAGTATTTTACTACCATTGACGTGACCAGTATGTGGGCCTGATAGATGCAATTATTGTGATAGATGGAAAATTCTATCAGCTATAATATCCAAAATAAAAATAGAACACA... | CAGTTTCCTGAGAAGGAATATGGCATTGAACATACATGAAAATATGTCCTAAGAAAATAACCAGGAGCAAAAATACAACTCTCCATTGGTAAAGAGACATTTATTGCTTCTCTATTTATAATAGCCCAAACAAGCAAACCAGATAATCCAGGGACGTCCCAAATATTGATAATTGAAGAACAGGCAAGTAGATTATTACAGCATCATGATAAGTATTTTACTACCATTGACGTGACCAGTATGTGGGCCTGATAGATGCAATTATTGTGATAGATGGAAAATTCTATCAGCTATAATATCCAAAATAAAAATAGAACACA... |
Task1_train_10675 | The variant affects gene FIG4 (FIG4 phosphoinositide 5-phosphatase), which is on Chromosome 6. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Yunis-Varon syndrome | CAGTTTCCTGAGAAGGAATATGGCATTGAACATACATGAAAATATGTCCTAAGAAAATAACCAGGAGCAAAAATACAACTCTCCATTGGTAAAGAGACATTTATTGCTTCTCTATTTATAATAGCCCAAACAAGCAAACCAGATAATCCAGGGACGTCCCAAATATTGATAATTGAAGAACAGGCAAGTAGATTATTACAGCATCATGATAAGTATTTTACTACCATTGACGTGACCAGTATGTGGGCCTGATAGATGCAATTATTGTGATAGATGGAAAATTCTATCAGCTATAATATCCAAAATAAAAATAGAACACA... | CAGTTTCCTGAGAAGGAATATGGCATTGAACATACATGAAAATATGTCCTAAGAAAATAACCAGGAGCAAAAATACAACTCTCCATTGGTAAAGAGACATTTATTGCTTCTCTATTTATAATAGCCCAAACAAGCAAACCAGATAATCCAGGGACGTCCCAAATATTGATAATTGAAGAACAGGCAAGTAGATTATTACAGCATCATGATAAGTATTTTACTACCATTGACGTGACCAGTATGTGGGCCTGATAGATGCAATTATTGTGATAGATGGAAAATTCTATCAGCTATAATATCCAAAATAAAAATAGAACACA... |
Task1_train_10676 | A variant has been detected on Chromosome 6 in FIG4 (FIG4 phosphoinositide 5-phosphatase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Amyotrophic lateral sclerosis type 11 | TTTCTTAGTTTGGGATATTATCAAGAGAATACAGTTGCCTTTTAGTATCAACAAGGGATTGGTTCTAGGAACCCTCTTCCCATCCAAAATCCACAGATGCTGAAGTCTCTTACATAATATGGCCTAGTGCTTGCATATAACCTATGTACATCCATCTGTATACTTTAAATCATCTCTAGATTACTTCTAATATCTAATATGATGTAAATGCTATGCAAATAGTTCTAATACTGTATTGTTAAGGGAATAATGACAATAAAAAAGGTCTGCACGTATTCAGTTCAGATGCAACCATCGTAGGCCTAACTACATTTTCTGTC... | TTTCTTAGTTTGGGATATTATCAAGAGAATACAGTTGCCTTTTAGTATCAACAAGGGATTGGTTCTAGGAACCCTCTTCCCATCCAAAATCCACAGATGCTGAAGTCTCTTACATAATATGGCCTAGTGCTTGCATATAACCTATGTACATCCATCTGTATACTTTAAATCATCTCTAGATTACTTCTAATATCTAATATGATGTAAATGCTATGCAAATAGTTCTAATACTGTATTGTTAAGGGAATAATGACAATAAAAAAGGTCTGCACGTATTCAGTTCAGATGCAACCATCGTAGGCCTAACTACATTTTCTGTC... |
Task1_train_10677 | A variant was discovered in gene FIG4 (FIG4 phosphoinositide 5-phosphatase), Chromosome 6. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Bilateral parasagittal parieto-occipital polymicrogyria | GTTAAGAAGGAATATTGTAAGAGTGTGAACTGAGATGGAAGCCAATATCATCTGGATGGACAGTAATTCATATGTAATTGTGTTTTCACCTTTCTTTAGTGACTTTATGCCTAAGACCGTTGGAATTGATCCAAGTCCATTTACTGTGCGTAAACCAGATGAAACTGGAAAATCAGTATTGGGGTAAGATTTGTGTATAGAACGAAACTTTAAAGATTTGTGTAAAAGAATAGTACTTGCAATATGATTTCCACCAAAAACTAATAACTTCAGGTCATATATAGTTTATTAATAACACTGGGATCACTAAGGTGTTCAAT... | GTTAAGAAGGAATATTGTAAGAGTGTGAACTGAGATGGAAGCCAATATCATCTGGATGGACAGTAATTCATATGTAATTGTGTTTTCACCTTTCTTTAGTGACTTTATGCCTAAGACCGTTGGAATTGATCCAAGTCCATTTACTGTGCGTAAACCAGATGAAACTGGAAAATCAGTATTGGGGTAAGATTTGTGTATAGAACGAAACTTTAAAGATTTGTGTAAAAGAATAGTACTTGCAATATGATTTCCACCAAAAACTAATAACTTCAGGTCATATATAGTTTATTAATAACACTGGGATCACTAAGGTGTTCAAT... |
Task1_train_10678 | A mutation in FIG4 (FIG4 phosphoinositide 5-phosphatase), located on Chromosome 6, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Yunis-Varon syndrome | GTTAAGAAGGAATATTGTAAGAGTGTGAACTGAGATGGAAGCCAATATCATCTGGATGGACAGTAATTCATATGTAATTGTGTTTTCACCTTTCTTTAGTGACTTTATGCCTAAGACCGTTGGAATTGATCCAAGTCCATTTACTGTGCGTAAACCAGATGAAACTGGAAAATCAGTATTGGGGTAAGATTTGTGTATAGAACGAAACTTTAAAGATTTGTGTAAAAGAATAGTACTTGCAATATGATTTCCACCAAAAACTAATAACTTCAGGTCATATATAGTTTATTAATAACACTGGGATCACTAAGGTGTTCAAT... | GTTAAGAAGGAATATTGTAAGAGTGTGAACTGAGATGGAAGCCAATATCATCTGGATGGACAGTAATTCATATGTAATTGTGTTTTCACCTTTCTTTAGTGACTTTATGCCTAAGACCGTTGGAATTGATCCAAGTCCATTTACTGTGCGTAAACCAGATGAAACTGGAAAATCAGTATTGGGGTAAGATTTGTGTATAGAACGAAACTTTAAAGATTTGTGTAAAAGAATAGTACTTGCAATATGATTTCCACCAAAAACTAATAACTTCAGGTCATATATAGTTTATTAATAACACTGGGATCACTAAGGTGTTCAAT... |
Task1_train_10679 | A variant found in Chromosome 6 affects AMD1, CDK19 (adenosylmethionine decarboxylase 1| cyclin dependent kinase 19). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Developmental and epileptic encephalopathy, 87 | TTTCTTATACGTAATACAGTGATTTAAACTAATGCTTTCAGATCCTGAGAGGTTTTTTTTTTTTTTAGAAAAAAAGCATTATATTTTGAAGACACACAAACTAATCTTACTCTAGTAAAGAAGCTTTATTAATTCTAATTAACAAATTTCACTCAAAAAGGAAGTGTATTCGAATCAAGTACTTTATTAGAGGGGAAAAATATTCAAAAAGAATAGAAGCAAGAATTATCTGGTTTTTGTTGTAAGCCCATACTATTCAAATACAATTCAGAAGCAGAATTTTTAACTTCTCAAAAGTTCCCTAATAAAAGAAAGCTATT... | TTTCTTATACGTAATACAGTGATTTAAACTAATGCTTTCAGATCCTGAGAGGTTTTTTTTTTTTTTAGAAAAAAAGCATTATATTTTGAAGACACACAAACTAATCTTACTCTAGTAAAGAAGCTTTATTAATTCTAATTAACAAATTTCACTCAAAAAGGAAGTGTATTCGAATCAAGTACTTTATTAGAGGGGAAAAATATTCAAAAAGAATAGAAGCAAGAATTATCTGGTTTTTGTTGTAAGCCCATACTATTCAAATACAATTCAGAAGCAGAATTTTTAACTTCTCAAAAGTTCCCTAATAAAAGAAAGCTATT... |
Task1_train_10680 | This variant lies on Chromosome 6 and affects the gene AMD1, CDK19 (adenosylmethionine decarboxylase 1| cyclin dependent kinase 19). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | AATACAGTGATTTAAACTAATGCTTTCAGATCCTGAGAGGTTTTTTTTTTTTTTAGAAAAAAAGCATTATATTTTGAAGACACACAAACTAATCTTACTCTAGTAAAGAAGCTTTATTAATTCTAATTAACAAATTTCACTCAAAAAGGAAGTGTATTCGAATCAAGTACTTTATTAGAGGGGAAAAATATTCAAAAAGAATAGAAGCAAGAATTATCTGGTTTTTGTTGTAAGCCCATACTATTCAAATACAATTCAGAAGCAGAATTTTTAACTTCTCAAAAGTTCCCTAATAAAAGAAAGCTATTTTAACAAAAAAA... | AATACAGTGATTTAAACTAATGCTTTCAGATCCTGAGAGGTTTTTTTTTTTTTTAGAAAAAAAGCATTATATTTTGAAGACACACAAACTAATCTTACTCTAGTAAAGAAGCTTTATTAATTCTAATTAACAAATTTCACTCAAAAAGGAAGTGTATTCGAATCAAGTACTTTATTAGAGGGGAAAAATATTCAAAAAGAATAGAAGCAAGAATTATCTGGTTTTTGTTGTAAGCCCATACTATTCAAATACAATTCAGAAGCAGAATTTTTAACTTCTCAAAAGTTCCCTAATAAAAGAAAGCTATTTTAACAAAAAAA... |
Task1_train_10681 | This sequence change occurs on Chromosome 6, altering AMD1, CDK19 (adenosylmethionine decarboxylase 1| cyclin dependent kinase 19). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Developmental and epileptic encephalopathy, 87 | AATACAGTGATTTAAACTAATGCTTTCAGATCCTGAGAGGTTTTTTTTTTTTTTAGAAAAAAAGCATTATATTTTGAAGACACACAAACTAATCTTACTCTAGTAAAGAAGCTTTATTAATTCTAATTAACAAATTTCACTCAAAAAGGAAGTGTATTCGAATCAAGTACTTTATTAGAGGGGAAAAATATTCAAAAAGAATAGAAGCAAGAATTATCTGGTTTTTGTTGTAAGCCCATACTATTCAAATACAATTCAGAAGCAGAATTTTTAACTTCTCAAAAGTTCCCTAATAAAAGAAAGCTATTTTAACAAAAAAA... | AATACAGTGATTTAAACTAATGCTTTCAGATCCTGAGAGGTTTTTTTTTTTTTTAGAAAAAAAGCATTATATTTTGAAGACACACAAACTAATCTTACTCTAGTAAAGAAGCTTTATTAATTCTAATTAACAAATTTCACTCAAAAAGGAAGTGTATTCGAATCAAGTACTTTATTAGAGGGGAAAAATATTCAAAAAGAATAGAAGCAAGAATTATCTGGTTTTTGTTGTAAGCCCATACTATTCAAATACAATTCAGAAGCAGAATTTTTAACTTCTCAAAAGTTCCCTAATAAAAGAAAGCTATTTTAACAAAAAAA... |
Task1_train_10682 | This gene mutation involves TRAF3IP2-AS1, TRAF3IP2 (TRAF3IP2 antisense RNA 1| TRAF3 interacting protein 2) on Chromosome 6. Is it associated with any clinical condition, or is it benign? | Pathogenic; Candidiasis, familial, 8 | GCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTGACACCATTTTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTATTTTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGAAGATATTTTTTAAAAGAGGAAAATGTTGGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGG... | GCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTGACACCATTTTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTATTTTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGAAGATATTTTTTAAAAGAGGAAAATGTTGGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGG... |
Task1_train_10683 | The gene TRAF3IP2-AS1, TRAF3IP2 (TRAF3IP2 antisense RNA 1| TRAF3 interacting protein 2) on Chromosome 6 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Discoid lupus erythematosus | CCACCACACCCAGTGTAATTTGATTTTATGTCACAGTTGCCACAGTGCTTTCTTTTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGATTGGAGTGCAGTGGTGTGATGCCGGCTTACTACAACTTCCACCTCCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCACACCACCATGCCAACTTTTTTTTCTTTTTTTTTTTTTTTGAGACAGAGCCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGAGATCTCGGCTCACTGCAACCTTCACCTCCAGG... | CCACCACACCCAGTGTAATTTGATTTTATGTCACAGTTGCCACAGTGCTTTCTTTTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGATTGGAGTGCAGTGGTGTGATGCCGGCTTACTACAACTTCCACCTCCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCACACCACCATGCCAACTTTTTTTTCTTTTTTTTTTTTTTTGAGACAGAGCCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGAGATCTCGGCTCACTGCAACCTTCACCTCCAGG... |
Task1_train_10684 | A mutation in CCN6 (cellular communication network factor 6), located on Chromosome 6, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | CATTTCATTCATTTGATCTTCCATCACTGATACCCTTTCTTCCAGTTGATCGAATCGGCTACTGAAGCTTGTGCATTCATCACGTAGTTCTCGTGCCATGGTTTTCAGCTCCATCAGGTCATTTAAGGACTTCTCTACAGTGAGAACACTGGGACACAGGAAGGGGAACATCACACACCGGGGCCTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTAGGAGATATGCCTAATGCTAAAGGACGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACTAACCTGCACATTGTGCACATGTA... | CATTTCATTCATTTGATCTTCCATCACTGATACCCTTTCTTCCAGTTGATCGAATCGGCTACTGAAGCTTGTGCATTCATCACGTAGTTCTCGTGCCATGGTTTTCAGCTCCATCAGGTCATTTAAGGACTTCTCTACAGTGAGAACACTGGGACACAGGAAGGGGAACATCACACACCGGGGCCTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTAGGAGATATGCCTAATGCTAAAGGACGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACTAACCTGCACATTGTGCACATGTA... |
Task1_train_10685 | Chromosome 6 houses a mutation in gene CCN6 (cellular communication network factor 6). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | GGACTAGGAAAGGAAGGAGGGTAAGTGTTGAGAGCTTAGGCTCTGGAACCTGCCTGCCTGATTTAAATCAGTCTTCTATCACTTACTTGATATGTCACATAGGACAACTTAAATAATTTGAGTCTCAGGGTCCTCATTTACAAAATGGAGTATACAGTTTCCTATTGCTGCTGTAAGAAATCACCAACTTGAATGGCTTAAAACAACATGATTATCTACAGTTCTGGACATCTGATGTCCAAAAATGGGTCTTACAGGGCTAAAATCAAGCGTTGGCAGGACTGCCTCCCTTCTGGAGGTGGCAGGGGAGAATCCATTCT... | GGACTAGGAAAGGAAGGAGGGTAAGTGTTGAGAGCTTAGGCTCTGGAACCTGCCTGCCTGATTTAAATCAGTCTTCTATCACTTACTTGATATGTCACATAGGACAACTTAAATAATTTGAGTCTCAGGGTCCTCATTTACAAAATGGAGTATACAGTTTCCTATTGCTGCTGTAAGAAATCACCAACTTGAATGGCTTAAAACAACATGATTATCTACAGTTCTGGACATCTGATGTCCAAAAATGGGTCTTACAGGGCTAAAATCAAGCGTTGGCAGGACTGCCTCCCTTCTGGAGGTGGCAGGGGAGAATCCATTCT... |
Task1_train_10686 | This variant impacts the gene CCN6 (cellular communication network factor 6) on Chromosome 6. Is the change likely to result in a pathogenic outcome? | Pathogenic; Progressive pseudorheumatoid dysplasia | TTAGGCTCTGGAACCTGCCTGCCTGATTTAAATCAGTCTTCTATCACTTACTTGATATGTCACATAGGACAACTTAAATAATTTGAGTCTCAGGGTCCTCATTTACAAAATGGAGTATACAGTTTCCTATTGCTGCTGTAAGAAATCACCAACTTGAATGGCTTAAAACAACATGATTATCTACAGTTCTGGACATCTGATGTCCAAAAATGGGTCTTACAGGGCTAAAATCAAGCGTTGGCAGGACTGCCTCCCTTCTGGAGGTGGCAGGGGAGAATCCATTCTTTGCCTGTTCCAGCTTTTAAAGGCTGTCTGGCTTC... | TTAGGCTCTGGAACCTGCCTGCCTGATTTAAATCAGTCTTCTATCACTTACTTGATATGTCACATAGGACAACTTAAATAATTTGAGTCTCAGGGTCCTCATTTACAAAATGGAGTATACAGTTTCCTATTGCTGCTGTAAGAAATCACCAACTTGAATGGCTTAAAACAACATGATTATCTACAGTTCTGGACATCTGATGTCCAAAAATGGGTCTTACAGGGCTAAAATCAAGCGTTGGCAGGACTGCCTCCCTTCTGGAGGTGGCAGGGGAGAATCCATTCTTTGCCTGTTCCAGCTTTTAAAGGCTGTCTGGCTTC... |
Task1_train_10687 | Here is a variant affecting CCN6 (cellular communication network factor 6) on Chromosome 6. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | TGGAGTATACAGTTTCCTATTGCTGCTGTAAGAAATCACCAACTTGAATGGCTTAAAACAACATGATTATCTACAGTTCTGGACATCTGATGTCCAAAAATGGGTCTTACAGGGCTAAAATCAAGCGTTGGCAGGACTGCCTCCCTTCTGGAGGTGGCAGGGGAGAATCCATTCTTTGCCTGTTCCAGCTTTTAAAGGCTGTCTGGCTTCCTTGGACCATGACCCATTTCAGCAACGGCATCGCTCCTACCTCTGCTTCTGCCATCACATCTTCTCTGACATGCCTGCCTCCTTCCCCAGTGGACCCAATGTACTTGTGA... | TGGAGTATACAGTTTCCTATTGCTGCTGTAAGAAATCACCAACTTGAATGGCTTAAAACAACATGATTATCTACAGTTCTGGACATCTGATGTCCAAAAATGGGTCTTACAGGGCTAAAATCAAGCGTTGGCAGGACTGCCTCCCTTCTGGAGGTGGCAGGGGAGAATCCATTCTTTGCCTGTTCCAGCTTTTAAAGGCTGTCTGGCTTCCTTGGACCATGACCCATTTCAGCAACGGCATCGCTCCTACCTCTGCTTCTGCCATCACATCTTCTCTGACATGCCTGCCTCCTTCCCCAGTGGACCCAATGTACTTGTGA... |
Task1_train_10688 | A genomic change on Chromosome 6 affects CCN6 (cellular communication network factor 6). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Progressive pseudorheumatoid dysplasia | AACCTGATGATCCCTGATCAAGAGCAACATTTTAAAAGCTTTTTGATCTGCGGACCCCTTTACAGTCTTAGAAATTACCCCTTTATACTCTTAGAAATTAATGAGGACCTAAAGAGGTTTTATGTGGGTTTTATCATTGATATTTGATGGATTAGAAATTTAGAAATATTTATTCACTTAAAAAGAATAAACCCATTGCAGATTAATAAGAATAACGTTTTTATGAAAAAACATGTAACTTATTTTCCAAAGAAAAATTTAGTAAAAGAGTGTCATTGTTTTACATTTTTTGCAAATCTCTCTAGTGTCTAGCTCAATAG... | AACCTGATGATCCCTGATCAAGAGCAACATTTTAAAAGCTTTTTGATCTGCGGACCCCTTTACAGTCTTAGAAATTACCCCTTTATACTCTTAGAAATTAATGAGGACCTAAAGAGGTTTTATGTGGGTTTTATCATTGATATTTGATGGATTAGAAATTTAGAAATATTTATTCACTTAAAAAGAATAAACCCATTGCAGATTAATAAGAATAACGTTTTTATGAAAAAACATGTAACTTATTTTCCAAAGAAAAATTTAGTAAAAGAGTGTCATTGTTTTACATTTTTTGCAAATCTCTCTAGTGTCTAGCTCAATAG... |
Task1_train_10689 | This alteration in CCN6 (cellular communication network factor 6) on Chromosome 6 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Progressive pseudorheumatoid dysplasia | CTGAAATCTCTGAAATTATAAGCCATGTCCTTATTTTTTTTTTTCAAAATGTACAGAACAGTTGGTTTTCTGCATTGGATTTTAGTCATTCAGTATAAGGCTCTTAGAACCCACACATAAACTTCCCTGGGAAGACTACCTTAGAGCAGTTTTCCACAAGTGAAGCCCTTTGGATCAAGTTCAAGTTGGTCTCATTTTAGAAGTTAGAGCAGTTCAGTGGATTCACTTTGACCTTGGTTGGGAGAGGCATCAGATAGTCAGTCTTAGTAGTTAGTGTTTTGTCAGGTAAAACAAGAAAATCTCCTGAAGTGTTCTCTGGT... | CTGAAATCTCTGAAATTATAAGCCATGTCCTTATTTTTTTTTTTCAAAATGTACAGAACAGTTGGTTTTCTGCATTGGATTTTAGTCATTCAGTATAAGGCTCTTAGAACCCACACATAAACTTCCCTGGGAAGACTACCTTAGAGCAGTTTTCCACAAGTGAAGCCCTTTGGATCAAGTTCAAGTTGGTCTCATTTTAGAAGTTAGAGCAGTTCAGTGGATTCACTTTGACCTTGGTTGGGAGAGGCATCAGATAGTCAGTCTTAGTAGTTAGTGTTTTGTCAGGTAAAACAAGAAAATCTCCTGAAGTGTTCTCTGGT... |
Task1_train_10690 | A genomic change on Chromosome 6 affects CCN6 (cellular communication network factor 6). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | ATTGATCCATCCATTCTGTTTTTTCATATGTAATTCGAAATCTTAGCCAATTGGAGAGTACTTTGGGCCTAAGAACATAGGGAGTGTGACAATTAAGTTGAATGAATGAAATTATACGCTTGCAATGACTTTCTATATAAATGATTAGTTTAGTTCAGTGTAGTATTAATTAGACAGTTTTCTAAAAGACTAGATTAAAACAAATGGAAGAAATCTGGTCTCACTGATAGTCTCATTCTCAAATATAATTTTTGTATTTTAGATTTTAACATATTATGAAAGTTAACATTAAGATCACACTGTTCTGATCAAATTCCCTA... | ATTGATCCATCCATTCTGTTTTTTCATATGTAATTCGAAATCTTAGCCAATTGGAGAGTACTTTGGGCCTAAGAACATAGGGAGTGTGACAATTAAGTTGAATGAATGAAATTATACGCTTGCAATGACTTTCTATATAAATGATTAGTTTAGTTCAGTGTAGTATTAATTAGACAGTTTTCTAAAAGACTAGATTAAAACAAATGGAAGAAATCTGGTCTCACTGATAGTCTCATTCTCAAATATAATTTTTGTATTTTAGATTTTAACATATTATGAAAGTTAACATTAAGATCACACTGTTCTGATCAAATTCCCTA... |
Task1_train_10691 | A variant found in Chromosome 6 affects CCN6 (cellular communication network factor 6). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Progressive pseudorheumatoid dysplasia | CCATTCTGTTTTTTCATATGTAATTCGAAATCTTAGCCAATTGGAGAGTACTTTGGGCCTAAGAACATAGGGAGTGTGACAATTAAGTTGAATGAATGAAATTATACGCTTGCAATGACTTTCTATATAAATGATTAGTTTAGTTCAGTGTAGTATTAATTAGACAGTTTTCTAAAAGACTAGATTAAAACAAATGGAAGAAATCTGGTCTCACTGATAGTCTCATTCTCAAATATAATTTTTGTATTTTAGATTTTAACATATTATGAAAGTTAACATTAAGATCACACTGTTCTGATCAAATTCCCTAATTTTTATTT... | CCATTCTGTTTTTTCATATGTAATTCGAAATCTTAGCCAATTGGAGAGTACTTTGGGCCTAAGAACATAGGGAGTGTGACAATTAAGTTGAATGAATGAAATTATACGCTTGCAATGACTTTCTATATAAATGATTAGTTTAGTTCAGTGTAGTATTAATTAGACAGTTTTCTAAAAGACTAGATTAAAACAAATGGAAGAAATCTGGTCTCACTGATAGTCTCATTCTCAAATATAATTTTTGTATTTTAGATTTTAACATATTATGAAAGTTAACATTAAGATCACACTGTTCTGATCAAATTCCCTAATTTTTATTT... |
Task1_train_10692 | The following genetic variant occurs in CCN6 (cellular communication network factor 6) on Chromosome 6. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Inborn genetic diseases | CCATTCTGTTTTTTCATATGTAATTCGAAATCTTAGCCAATTGGAGAGTACTTTGGGCCTAAGAACATAGGGAGTGTGACAATTAAGTTGAATGAATGAAATTATACGCTTGCAATGACTTTCTATATAAATGATTAGTTTAGTTCAGTGTAGTATTAATTAGACAGTTTTCTAAAAGACTAGATTAAAACAAATGGAAGAAATCTGGTCTCACTGATAGTCTCATTCTCAAATATAATTTTTGTATTTTAGATTTTAACATATTATGAAAGTTAACATTAAGATCACACTGTTCTGATCAAATTCCCTAATTTTTATTT... | CCATTCTGTTTTTTCATATGTAATTCGAAATCTTAGCCAATTGGAGAGTACTTTGGGCCTAAGAACATAGGGAGTGTGACAATTAAGTTGAATGAATGAAATTATACGCTTGCAATGACTTTCTATATAAATGATTAGTTTAGTTCAGTGTAGTATTAATTAGACAGTTTTCTAAAAGACTAGATTAAAACAAATGGAAGAAATCTGGTCTCACTGATAGTCTCATTCTCAAATATAATTTTTGTATTTTAGATTTTAACATATTATGAAAGTTAACATTAAGATCACACTGTTCTGATCAAATTCCCTAATTTTTATTT... |
Task1_train_10693 | The gene LAMA4, LOC126859766 (laminin subunit alpha 4| MED14-independent group 3 enhancer GRCh37_chr6:112462018-112463217) is located on Chromosome 6, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Dilated cardiomyopathy 1JJ | TTTCTGCAGACACCCTGCTCATCTAGATCTTGGTTCTAATTTCCTCAAAGTTCTCTTAGTTTATTTATATCCAAAAATGTACTGTGGGGAAATGCATCTCAGGGTTGCTTTTATTTATTGCTGTCATTACTTTCCTGAAGAAGAAAATCCAATTTGACTTTCTAAACTAGAATTTCAGTTTGATGGCATGACACACTAGACCTGGGAAGGTTCCTGGAAACATGAGTAGCAGAAAGTAAAGGAAATAAAGGAGAAGTAGTAGGACTTGTATTTTTACTCACTCCATTGACCATCAGGAGAATAAGGCCGTTGTCAGCTGG... | TTTCTGCAGACACCCTGCTCATCTAGATCTTGGTTCTAATTTCCTCAAAGTTCTCTTAGTTTATTTATATCCAAAAATGTACTGTGGGGAAATGCATCTCAGGGTTGCTTTTATTTATTGCTGTCATTACTTTCCTGAAGAAGAAAATCCAATTTGACTTTCTAAACTAGAATTTCAGTTTGATGGCATGACACACTAGACCTGGGAAGGTTCCTGGAAACATGAGTAGCAGAAAGTAAAGGAAATAAAGGAGAAGTAGTAGGACTTGTATTTTTACTCACTCCATTGACCATCAGGAGAATAAGGCCGTTGTCAGCTGG... |
Task1_train_10694 | The gene COL10A1, NT5DC1 (collagen type X alpha 1 chain| 5'-nucleotidase domain containing 1) on Chromosome 6 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | GCTTCTTTCATGGCTATAATTGCCCATATTCCAAGCTGTGCTGTTACACTCTCCTTTACCACGCCTGCCACGAGGGTCATTCTGTGAGTTCCCTAGAATTGAAGTCCAGTTTTGCTTTTTCATGGCCTGGGCATAAGGGTTGGTGACTTGTAACCATTAGTGTAGTAGTTATAGACAGGTGGGCAAAATGTCTGCCGGCAGAAATTTTGTTCTTGTTGCTTAAGGAACAAAACTGGCTGACCCAGAGTGAGGGCAGAGATATCACCAATCTTGAGCCCAGAGTTTTACCTTTCCAATCACAGCTTTGCTTGGATTACACA... | GCTTCTTTCATGGCTATAATTGCCCATATTCCAAGCTGTGCTGTTACACTCTCCTTTACCACGCCTGCCACGAGGGTCATTCTGTGAGTTCCCTAGAATTGAAGTCCAGTTTTGCTTTTTCATGGCCTGGGCATAAGGGTTGGTGACTTGTAACCATTAGTGTAGTAGTTATAGACAGGTGGGCAAAATGTCTGCCGGCAGAAATTTTGTTCTTGTTGCTTAAGGAACAAAACTGGCTGACCCAGAGTGAGGGCAGAGATATCACCAATCTTGAGCCCAGAGTTTTACCTTTCCAATCACAGCTTTGCTTGGATTACACA... |
Task1_train_10695 | Consider a variant on Chromosome 6 in gene COL10A1, NT5DC1 (collagen type X alpha 1 chain| 5'-nucleotidase domain containing 1). Determine its clinical classification and disease relevance. | Pathogenic; not provided | TTGAAGTCCAGTTTTGCTTTTTCATGGCCTGGGCATAAGGGTTGGTGACTTGTAACCATTAGTGTAGTAGTTATAGACAGGTGGGCAAAATGTCTGCCGGCAGAAATTTTGTTCTTGTTGCTTAAGGAACAAAACTGGCTGACCCAGAGTGAGGGCAGAGATATCACCAATCTTGAGCCCAGAGTTTTACCTTTCCAATCACAGCTTTGCTTGGATTACACAAGATTGCTTCTAAGGAATAAATAGATGCCTTTATAGTATGTTACCTCAGTGACTTGAGCCACATTGTCCTGATTAAACTAATAGGATGATGGATTCTT... | TTGAAGTCCAGTTTTGCTTTTTCATGGCCTGGGCATAAGGGTTGGTGACTTGTAACCATTAGTGTAGTAGTTATAGACAGGTGGGCAAAATGTCTGCCGGCAGAAATTTTGTTCTTGTTGCTTAAGGAACAAAACTGGCTGACCCAGAGTGAGGGCAGAGATATCACCAATCTTGAGCCCAGAGTTTTACCTTTCCAATCACAGCTTTGCTTGGATTACACAAGATTGCTTCTAAGGAATAAATAGATGCCTTTATAGTATGTTACCTCAGTGACTTGAGCCACATTGTCCTGATTAAACTAATAGGATGATGGATTCTT... |
Task1_train_10696 | A mutation in COL10A1, NT5DC1 (collagen type X alpha 1 chain| 5'-nucleotidase domain containing 1), located on Chromosome 6, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Metaphyseal chondrodysplasia, Schmid type | TTTGCTTTTTCATGGCCTGGGCATAAGGGTTGGTGACTTGTAACCATTAGTGTAGTAGTTATAGACAGGTGGGCAAAATGTCTGCCGGCAGAAATTTTGTTCTTGTTGCTTAAGGAACAAAACTGGCTGACCCAGAGTGAGGGCAGAGATATCACCAATCTTGAGCCCAGAGTTTTACCTTTCCAATCACAGCTTTGCTTGGATTACACAAGATTGCTTCTAAGGAATAAATAGATGCCTTTATAGTATGTTACCTCAGTGACTTGAGCCACATTGTCCTGATTAAACTAATAGGATGATGGATTCTTAAGAGTAGTATT... | TTTGCTTTTTCATGGCCTGGGCATAAGGGTTGGTGACTTGTAACCATTAGTGTAGTAGTTATAGACAGGTGGGCAAAATGTCTGCCGGCAGAAATTTTGTTCTTGTTGCTTAAGGAACAAAACTGGCTGACCCAGAGTGAGGGCAGAGATATCACCAATCTTGAGCCCAGAGTTTTACCTTTCCAATCACAGCTTTGCTTGGATTACACAAGATTGCTTCTAAGGAATAAATAGATGCCTTTATAGTATGTTACCTCAGTGACTTGAGCCACATTGTCCTGATTAAACTAATAGGATGATGGATTCTTAAGAGTAGTATT... |
Task1_train_10697 | This variant affects gene COL10A1, NT5DC1 (collagen type X alpha 1 chain| 5'-nucleotidase domain containing 1) located on Chromosome 6. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | GTGTAGTAGTTATAGACAGGTGGGCAAAATGTCTGCCGGCAGAAATTTTGTTCTTGTTGCTTAAGGAACAAAACTGGCTGACCCAGAGTGAGGGCAGAGATATCACCAATCTTGAGCCCAGAGTTTTACCTTTCCAATCACAGCTTTGCTTGGATTACACAAGATTGCTTCTAAGGAATAAATAGATGCCTTTATAGTATGTTACCTCAGTGACTTGAGCCACATTGTCCTGATTAAACTAATAGGATGATGGATTCTTAAGAGTAGTATTTTTCAGCTTGGAAAAAATGTTGCCTTGTGATTGACAAAAAAATTGCTTG... | GTGTAGTAGTTATAGACAGGTGGGCAAAATGTCTGCCGGCAGAAATTTTGTTCTTGTTGCTTAAGGAACAAAACTGGCTGACCCAGAGTGAGGGCAGAGATATCACCAATCTTGAGCCCAGAGTTTTACCTTTCCAATCACAGCTTTGCTTGGATTACACAAGATTGCTTCTAAGGAATAAATAGATGCCTTTATAGTATGTTACCTCAGTGACTTGAGCCACATTGTCCTGATTAAACTAATAGGATGATGGATTCTTAAGAGTAGTATTTTTCAGCTTGGAAAAAATGTTGCCTTGTGATTGACAAAAAAATTGCTTG... |
Task1_train_10698 | Gene COL10A1, NT5DC1 (collagen type X alpha 1 chain| 5'-nucleotidase domain containing 1) on Chromosome 6 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Metaphyseal chondrodysplasia, Schmid type | GTAGTAGTTATAGACAGGTGGGCAAAATGTCTGCCGGCAGAAATTTTGTTCTTGTTGCTTAAGGAACAAAACTGGCTGACCCAGAGTGAGGGCAGAGATATCACCAATCTTGAGCCCAGAGTTTTACCTTTCCAATCACAGCTTTGCTTGGATTACACAAGATTGCTTCTAAGGAATAAATAGATGCCTTTATAGTATGTTACCTCAGTGACTTGAGCCACATTGTCCTGATTAAACTAATAGGATGATGGATTCTTAAGAGTAGTATTTTTCAGCTTGGAAAAAATGTTGCCTTGTGATTGACAAAAAAATTGCTTGCC... | GTAGTAGTTATAGACAGGTGGGCAAAATGTCTGCCGGCAGAAATTTTGTTCTTGTTGCTTAAGGAACAAAACTGGCTGACCCAGAGTGAGGGCAGAGATATCACCAATCTTGAGCCCAGAGTTTTACCTTTCCAATCACAGCTTTGCTTGGATTACACAAGATTGCTTCTAAGGAATAAATAGATGCCTTTATAGTATGTTACCTCAGTGACTTGAGCCACATTGTCCTGATTAAACTAATAGGATGATGGATTCTTAAGAGTAGTATTTTTCAGCTTGGAAAAAATGTTGCCTTGTGATTGACAAAAAAATTGCTTGCC... |
Task1_train_10699 | A genetic alteration is present in COL10A1, NT5DC1 (collagen type X alpha 1 chain| 5'-nucleotidase domain containing 1) on Chromosome 6. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | GTTATAGACAGGTGGGCAAAATGTCTGCCGGCAGAAATTTTGTTCTTGTTGCTTAAGGAACAAAACTGGCTGACCCAGAGTGAGGGCAGAGATATCACCAATCTTGAGCCCAGAGTTTTACCTTTCCAATCACAGCTTTGCTTGGATTACACAAGATTGCTTCTAAGGAATAAATAGATGCCTTTATAGTATGTTACCTCAGTGACTTGAGCCACATTGTCCTGATTAAACTAATAGGATGATGGATTCTTAAGAGTAGTATTTTTCAGCTTGGAAAAAATGTTGCCTTGTGATTGACAAAAAAATTGCTTGCCTTTTTA... | GTTATAGACAGGTGGGCAAAATGTCTGCCGGCAGAAATTTTGTTCTTGTTGCTTAAGGAACAAAACTGGCTGACCCAGAGTGAGGGCAGAGATATCACCAATCTTGAGCCCAGAGTTTTACCTTTCCAATCACAGCTTTGCTTGGATTACACAAGATTGCTTCTAAGGAATAAATAGATGCCTTTATAGTATGTTACCTCAGTGACTTGAGCCACATTGTCCTGATTAAACTAATAGGATGATGGATTCTTAAGAGTAGTATTTTTCAGCTTGGAAAAAATGTTGCCTTGTGATTGACAAAAAAATTGCTTGCCTTTTTA... |
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