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_23800 | This variant impacts the gene MYH3 (myosin heavy chain 3) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Freeman-Sheldon syndrome | GGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTC... | GGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTC... |
Task1_train_23801 | This variant lies on Chromosome 17 and affects the gene MYH3 (myosin heavy chain 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Freeman-Sheldon syndrome | GAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAG... | GAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAG... |
Task1_train_23802 | Here is a variant affecting MYH3 (myosin heavy chain 3) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Arthrogryposis, distal, type 2B3 | GAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAG... | GAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAG... |
Task1_train_23803 | Here is a variant affecting MYH3 (myosin heavy chain 3) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Freeman-Sheldon syndrome | GAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAG... | GAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAG... |
Task1_train_23804 | Assess the clinical impact of this variant on gene MYH3 (myosin heavy chain 3), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | GAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAG... | GAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAG... |
Task1_train_23805 | Given this variant in gene MYH3 (myosin heavy chain 3) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Contractures, pterygia, and variable skeletal fusions syndrome 1B | GAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAG... | GAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAG... |
Task1_train_23806 | A genetic alteration is present in MYH3 (myosin heavy chain 3) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Arthrogryposis, distal, type 2B3 | GCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTC... | GCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTC... |
Task1_train_23807 | Consider this mutation in MYH3 (myosin heavy chain 3) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Freeman-Sheldon syndrome | GAGAGGTCTTCCCTGCCCACCCTGCCTAAAGCAAGCCTGGCCCCCAGTTCCTCTCTTACACACGCTGTTCATTGAACTTGGTCTGAATTTATCTTTATCTGAAATGGTCTTGTTGGGTTGTTTTGTTTTTCATCATCTGTTGCCTCTGGTCTCTACACTCTTTGAGGACAGGGCTCTTGCCTATTTTGTGAGGCACAAAGCAAATTCCATCTTAACCAAACTCAGACTCACAAAACGGGAGGAGTTGTCATTCCTCACAGTCTTGGCGTTCCCAAAGGCCTCCAGCAGGGGATTGGCACTGATGATTTGATCTTCCAGAG... | GAGAGGTCTTCCCTGCCCACCCTGCCTAAAGCAAGCCTGGCCCCCAGTTCCTCTCTTACACACGCTGTTCATTGAACTTGGTCTGAATTTATCTTTATCTGAAATGGTCTTGTTGGGTTGTTTTGTTTTTCATCATCTGTTGCCTCTGGTCTCTACACTCTTTGAGGACAGGGCTCTTGCCTATTTTGTGAGGCACAAAGCAAATTCCATCTTAACCAAACTCAGACTCACAAAACGGGAGGAGTTGTCATTCCTCACAGTCTTGGCGTTCCCAAAGGCCTCCAGCAGGGGATTGGCACTGATGATTTGATCTTCCAGAG... |
Task1_train_23808 | This alteration in MYH3 (myosin heavy chain 3) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; MYH3-related disorder | GAGAGGTCTTCCCTGCCCACCCTGCCTAAAGCAAGCCTGGCCCCCAGTTCCTCTCTTACACACGCTGTTCATTGAACTTGGTCTGAATTTATCTTTATCTGAAATGGTCTTGTTGGGTTGTTTTGTTTTTCATCATCTGTTGCCTCTGGTCTCTACACTCTTTGAGGACAGGGCTCTTGCCTATTTTGTGAGGCACAAAGCAAATTCCATCTTAACCAAACTCAGACTCACAAAACGGGAGGAGTTGTCATTCCTCACAGTCTTGGCGTTCCCAAAGGCCTCCAGCAGGGGATTGGCACTGATGATTTGATCTTCCAGAG... | GAGAGGTCTTCCCTGCCCACCCTGCCTAAAGCAAGCCTGGCCCCCAGTTCCTCTCTTACACACGCTGTTCATTGAACTTGGTCTGAATTTATCTTTATCTGAAATGGTCTTGTTGGGTTGTTTTGTTTTTCATCATCTGTTGCCTCTGGTCTCTACACTCTTTGAGGACAGGGCTCTTGCCTATTTTGTGAGGCACAAAGCAAATTCCATCTTAACCAAACTCAGACTCACAAAACGGGAGGAGTTGTCATTCCTCACAGTCTTGGCGTTCCCAAAGGCCTCCAGCAGGGGATTGGCACTGATGATTTGATCTTCCAGAG... |
Task1_train_23809 | This mutation is located in gene MYH3 (myosin heavy chain 3) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Arthrogryposis, distal, type 2B3 | GAGAGGTCTTCCCTGCCCACCCTGCCTAAAGCAAGCCTGGCCCCCAGTTCCTCTCTTACACACGCTGTTCATTGAACTTGGTCTGAATTTATCTTTATCTGAAATGGTCTTGTTGGGTTGTTTTGTTTTTCATCATCTGTTGCCTCTGGTCTCTACACTCTTTGAGGACAGGGCTCTTGCCTATTTTGTGAGGCACAAAGCAAATTCCATCTTAACCAAACTCAGACTCACAAAACGGGAGGAGTTGTCATTCCTCACAGTCTTGGCGTTCCCAAAGGCCTCCAGCAGGGGATTGGCACTGATGATTTGATCTTCCAGAG... | GAGAGGTCTTCCCTGCCCACCCTGCCTAAAGCAAGCCTGGCCCCCAGTTCCTCTCTTACACACGCTGTTCATTGAACTTGGTCTGAATTTATCTTTATCTGAAATGGTCTTGTTGGGTTGTTTTGTTTTTCATCATCTGTTGCCTCTGGTCTCTACACTCTTTGAGGACAGGGCTCTTGCCTATTTTGTGAGGCACAAAGCAAATTCCATCTTAACCAAACTCAGACTCACAAAACGGGAGGAGTTGTCATTCCTCACAGTCTTGGCGTTCCCAAAGGCCTCCAGCAGGGGATTGGCACTGATGATTTGATCTTCCAGAG... |
Task1_train_23810 | A change on Chromosome 17 affects gene SCO1 (synthesis of cytochrome C oxidase 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Mitochondrial complex 4 deficiency, nuclear type 4 | GCAATGGAGATGAGCCTGGAGGATACTATTAATATGTTAAATGAAAAAAGTCAGGCACAGAAAGATAAATACTGCATATTCATACGTGGAAACTAAAAAAGTTGATCTCACAGAAGTAGAGAGAAGAATTGTGGATACTAGAGGCTGGAAAGGGTTGGGGAGGATAGGGACTCTGTACCCCATAAATATGTACAACTGTTATGTGTCAATTAAACAACAGTTACTTTGTCATAGTAAATGTTTTATTTATCTTTAAGACAGAGTCTAGCTCTGTTGCCCAGGCTGAAGATCAGTGGCGTGATGTCAGCTCACTGCTACCT... | GCAATGGAGATGAGCCTGGAGGATACTATTAATATGTTAAATGAAAAAAGTCAGGCACAGAAAGATAAATACTGCATATTCATACGTGGAAACTAAAAAAGTTGATCTCACAGAAGTAGAGAGAAGAATTGTGGATACTAGAGGCTGGAAAGGGTTGGGGAGGATAGGGACTCTGTACCCCATAAATATGTACAACTGTTATGTGTCAATTAAACAACAGTTACTTTGTCATAGTAAATGTTTTATTTATCTTTAAGACAGAGTCTAGCTCTGTTGCCCAGGCTGAAGATCAGTGGCGTGATGTCAGCTCACTGCTACCT... |
Task1_train_23811 | This variant affects gene DNAH9 (dynein axonemal heavy chain 9) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Ciliary dyskinesia, primary, 40 | AACACACACAGACACACATATACACACATGCTCCGGCCTTCCTGGGAAATCAAGTCTGCAGGTCAGGGCAGCGGTGCTTGTGTTATGGGTGTTTGTTTCTGCATAAAAAAATTACTCCAAAGCTTAGTGATTTTGTACAATAACCATTTCATAATATCTCACAAGTTTGTTGAGGGCAGGGCTCAGCTGGCCAGGTTTTCTGCTCCATGTGGCCATGACTGGGGTCACTTGGTACATTCAGCTGGTGGCCGGGCTGGAGGCCCCCGAGATGACTTCCTTCACATGCTGGGCATCTTGGCAGTGATGATTGGAAGGGAGGG... | AACACACACAGACACACATATACACACATGCTCCGGCCTTCCTGGGAAATCAAGTCTGCAGGTCAGGGCAGCGGTGCTTGTGTTATGGGTGTTTGTTTCTGCATAAAAAAATTACTCCAAAGCTTAGTGATTTTGTACAATAACCATTTCATAATATCTCACAAGTTTGTTGAGGGCAGGGCTCAGCTGGCCAGGTTTTCTGCTCCATGTGGCCATGACTGGGGTCACTTGGTACATTCAGCTGGTGGCCGGGCTGGAGGCCCCCGAGATGACTTCCTTCACATGCTGGGCATCTTGGCAGTGATGATTGGAAGGGAGGG... |
Task1_train_23812 | A genomic change on Chromosome 17 affects DNAH9 (dynein axonemal heavy chain 9). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Ciliary dyskinesia, primary, 40 | ACCAGAATATATGGTAATGTTTTCCAACACGAACCCTGATTGTAACCTCACCCTAGCCAGCCCCGTATAAGAGAAGTTGTGTGCGAACCTTAAAAGCGACACTCTCATTTCAGGACACTCTGGAGATGTGTTCTCGGGAGACGGAGTTTAAGAGCATCCTCTTTGCTCTTTGTTACTTCCATGCGGTGGTGGCAGAAAGACGAAAATTTGGGCCCCAGGGATGGAATCGCTCATACCCCTTTAACACTGGAGACCTCACTATCTCTGTGAATGTCCTCTACAACTTCCTGGAGGCCAACGCAAAGGTAAAGGCCATGGAC... | ACCAGAATATATGGTAATGTTTTCCAACACGAACCCTGATTGTAACCTCACCCTAGCCAGCCCCGTATAAGAGAAGTTGTGTGCGAACCTTAAAAGCGACACTCTCATTTCAGGACACTCTGGAGATGTGTTCTCGGGAGACGGAGTTTAAGAGCATCCTCTTTGCTCTTTGTTACTTCCATGCGGTGGTGGCAGAAAGACGAAAATTTGGGCCCCAGGGATGGAATCGCTCATACCCCTTTAACACTGGAGACCTCACTATCTCTGTGAATGTCCTCTACAACTTCCTGGAGGCCAACGCAAAGGTAAAGGCCATGGAC... |
Task1_train_23813 | Gene ELAC2 (elaC ribonuclease Z 2), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Combined oxidative phosphorylation defect type 17 | CCCTGGCCCTGGGTCTGCCTACTAGGATGACAACCAGAGACTCTGAGGGTGGGGACCTGAGTCTCCTGCCTCTGCTGACGTTTCCCTGCAAGCCCACCTGCATTCACCTCCAGCTACACAAACCCCAGAGCAACCTCAGGGTGGCTTGCTTCTTCCTCTACTCACCCATCCGGACCAGAGCCTCGCAGGGCATGGTGTCCCCGGAATAGACCACTTTCCAGCCAGAGGTGTGCACCAGCGCACAGCCAAACGCATGCTTGCAGTGCCGCACCAGACAGGTCTGAAACTGAAAGGGTGGGGCTGGAGGGCTCTGCAGCTCT... | CCCTGGCCCTGGGTCTGCCTACTAGGATGACAACCAGAGACTCTGAGGGTGGGGACCTGAGTCTCCTGCCTCTGCTGACGTTTCCCTGCAAGCCCACCTGCATTCACCTCCAGCTACACAAACCCCAGAGCAACCTCAGGGTGGCTTGCTTCTTCCTCTACTCACCCATCCGGACCAGAGCCTCGCAGGGCATGGTGTCCCCGGAATAGACCACTTTCCAGCCAGAGGTGTGCACCAGCGCACAGCCAAACGCATGCTTGCAGTGCCGCACCAGACAGGTCTGAAACTGAAAGGGTGGGGCTGGAGGGCTCTGCAGCTCT... |
Task1_train_23814 | The gene ELAC2 (elaC ribonuclease Z 2) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Combined oxidative phosphorylation defect type 17 | ATAATGGCATCCCTGCAGGAAGAGAGAGAAGCATCTCAGGTGACGGACAGGGTATATGGCCTCAGCAGACCCCATTGGGGATGTCCAGAATAAATTCAGGGGGACAATCTGCAGGAAGTTCCTTCAGATCAACACTGAAGGTTAAGTGACTAGGATCTGGGGCAGGTCTGCTCCACCGCCTTTTGGATGCTGCATCGCTCTGCCTCAGGGCCAGTCAACGGGGAACTACTGATGCTCAGGGCAAGACAGTTTTTTTCTGTGGCCAGTGCTGCTGTCCTGGTGCAGTACCCCTGACCTCTACCCACTAGCAGCACCACTAC... | ATAATGGCATCCCTGCAGGAAGAGAGAGAAGCATCTCAGGTGACGGACAGGGTATATGGCCTCAGCAGACCCCATTGGGGATGTCCAGAATAAATTCAGGGGGACAATCTGCAGGAAGTTCCTTCAGATCAACACTGAAGGTTAAGTGACTAGGATCTGGGGCAGGTCTGCTCCACCGCCTTTTGGATGCTGCATCGCTCTGCCTCAGGGCCAGTCAACGGGGAACTACTGATGCTCAGGGCAAGACAGTTTTTTTCTGTGGCCAGTGCTGCTGTCCTGGTGCAGTACCCCTGACCTCTACCCACTAGCAGCACCACTAC... |
Task1_train_23815 | A change on Chromosome 17 affects gene ELAC2 (elaC ribonuclease Z 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Combined oxidative phosphorylation defect type 17 | CAGGAGGAGCAAGCCAGGCAATGGGAGTGCTGATCAGCTCATCACAGCACTGGCCTAGGAGCACTTGTGCCATTGCTCCGGCACATTCCTCTCCTCCCTGCTGCCTTCTGCCTTCAGTCAGTGTAAGCCTCATCTCCTCGCCAGGTTCTGGACTTCTCTGGCCTTTGCTGGGTGCTCTGGTCTGTCACCCATCAGCACTACTTAGTAAGCATCACATTAGTTAGTACTAACAAGGAAATACCCCTACTGCTTGGTACTCTCTTCACATGTAAGTAAAACCAGACATGAATGTCTTTAGCCAAGTTCAAGGACAAGACTAA... | CAGGAGGAGCAAGCCAGGCAATGGGAGTGCTGATCAGCTCATCACAGCACTGGCCTAGGAGCACTTGTGCCATTGCTCCGGCACATTCCTCTCCTCCCTGCTGCCTTCTGCCTTCAGTCAGTGTAAGCCTCATCTCCTCGCCAGGTTCTGGACTTCTCTGGCCTTTGCTGGGTGCTCTGGTCTGTCACCCATCAGCACTACTTAGTAAGCATCACATTAGTTAGTACTAACAAGGAAATACCCCTACTGCTTGGTACTCTCTTCACATGTAAGTAAAACCAGACATGAATGTCTTTAGCCAAGTTCAAGGACAAGACTAA... |
Task1_train_23816 | This is a variant in ELAC2 (elaC ribonuclease Z 2), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Prostate cancer, hereditary, 2, susceptibility to | CAGGAGGAGCAAGCCAGGCAATGGGAGTGCTGATCAGCTCATCACAGCACTGGCCTAGGAGCACTTGTGCCATTGCTCCGGCACATTCCTCTCCTCCCTGCTGCCTTCTGCCTTCAGTCAGTGTAAGCCTCATCTCCTCGCCAGGTTCTGGACTTCTCTGGCCTTTGCTGGGTGCTCTGGTCTGTCACCCATCAGCACTACTTAGTAAGCATCACATTAGTTAGTACTAACAAGGAAATACCCCTACTGCTTGGTACTCTCTTCACATGTAAGTAAAACCAGACATGAATGTCTTTAGCCAAGTTCAAGGACAAGACTAA... | CAGGAGGAGCAAGCCAGGCAATGGGAGTGCTGATCAGCTCATCACAGCACTGGCCTAGGAGCACTTGTGCCATTGCTCCGGCACATTCCTCTCCTCCCTGCTGCCTTCTGCCTTCAGTCAGTGTAAGCCTCATCTCCTCGCCAGGTTCTGGACTTCTCTGGCCTTTGCTGGGTGCTCTGGTCTGTCACCCATCAGCACTACTTAGTAAGCATCACATTAGTTAGTACTAACAAGGAAATACCCCTACTGCTTGGTACTCTCTTCACATGTAAGTAAAACCAGACATGAATGTCTTTAGCCAAGTTCAAGGACAAGACTAA... |
Task1_train_23817 | A genomic change on Chromosome 17 affects COX10, LOC130060303 (cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10| ATAC-STARR-seq lymphoblastoid active region 11742). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Mitochondrial complex 4 deficiency, nuclear type 3 | CTCACAGGTTTCAGGGACTCAGGTCTTGGTTCTGGCACTCAACAGCTAGGTAACTTTGATCAGATTACTTAAAACTCTCTGGGCCTTAATGTGCCAGACTTAGAGAGGATAACTTTTGCTCTAGGTTTAAACAACAAGTGTTTATAAAAGCACATGGAAAATTATAAAGAGTTCAAAAACTTTTAACGTAGTACTTAATGCTATTTTCCTCTTTATGGAGTGTCCTTTCCCTTTCTTTTATGCTGTAAAAATCTTTTTTTTTTTTTTTTTTTTTTACTTTCAGATCTAGGGTACATGGGCACAACGTGCAGGTTTGTTAC... | CTCACAGGTTTCAGGGACTCAGGTCTTGGTTCTGGCACTCAACAGCTAGGTAACTTTGATCAGATTACTTAAAACTCTCTGGGCCTTAATGTGCCAGACTTAGAGAGGATAACTTTTGCTCTAGGTTTAAACAACAAGTGTTTATAAAAGCACATGGAAAATTATAAAGAGTTCAAAAACTTTTAACGTAGTACTTAATGCTATTTTCCTCTTTATGGAGTGTCCTTTCCCTTTCTTTTATGCTGTAAAAATCTTTTTTTTTTTTTTTTTTTTTTACTTTCAGATCTAGGGTACATGGGCACAACGTGCAGGTTTGTTAC... |
Task1_train_23818 | A genetic alteration is present in COX10 (cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Mitochondrial complex 4 deficiency, nuclear type 3 | ACTTCCACTTATAGATTGCCTTCTTGCATTAGACTTTCAGTGACTCTGCACTGCCAACCAACCAAACTACAAACTCCTCAGCTTGCTATTCTGCAGTCTGACATTTGCCACCTTTCCTCCTGTTTTTCCAGTAAATACTGCTCTATGCCTAGCTCAGTGATAGCCCCCCCAAATACAGCAGTGAACTACACAGACAGGGGTCCTACCTTCATGGAGCTTATATTCCAGTGAGGAGTCAGAGTGTAGTAAGTGTCATGAAGGAAATAAAAGGAGGATGTGAGCGAGGGAGTAACTGGGGAGACTTACGTTAGATGAGGTCA... | ACTTCCACTTATAGATTGCCTTCTTGCATTAGACTTTCAGTGACTCTGCACTGCCAACCAACCAAACTACAAACTCCTCAGCTTGCTATTCTGCAGTCTGACATTTGCCACCTTTCCTCCTGTTTTTCCAGTAAATACTGCTCTATGCCTAGCTCAGTGATAGCCCCCCCAAATACAGCAGTGAACTACACAGACAGGGGTCCTACCTTCATGGAGCTTATATTCCAGTGAGGAGTCAGAGTGTAGTAAGTGTCATGAAGGAAATAAAAGGAGGATGTGAGCGAGGGAGTAACTGGGGAGACTTACGTTAGATGAGGTCA... |
Task1_train_23819 | With a mutation on Chromosome 17 in gene COX10 (cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Mitochondrial complex 4 deficiency, nuclear type 3 | GCATTAGACTTTCAGTGACTCTGCACTGCCAACCAACCAAACTACAAACTCCTCAGCTTGCTATTCTGCAGTCTGACATTTGCCACCTTTCCTCCTGTTTTTCCAGTAAATACTGCTCTATGCCTAGCTCAGTGATAGCCCCCCCAAATACAGCAGTGAACTACACAGACAGGGGTCCTACCTTCATGGAGCTTATATTCCAGTGAGGAGTCAGAGTGTAGTAAGTGTCATGAAGGAAATAAAAGGAGGATGTGAGCGAGGGAGTAACTGGGGAGACTTACGTTAGATGAGGTCATCAGGAAGGTTCCCCTTAACAAGTA... | GCATTAGACTTTCAGTGACTCTGCACTGCCAACCAACCAAACTACAAACTCCTCAGCTTGCTATTCTGCAGTCTGACATTTGCCACCTTTCCTCCTGTTTTTCCAGTAAATACTGCTCTATGCCTAGCTCAGTGATAGCCCCCCCAAATACAGCAGTGAACTACACAGACAGGGGTCCTACCTTCATGGAGCTTATATTCCAGTGAGGAGTCAGAGTGTAGTAAGTGTCATGAAGGAAATAAAAGGAGGATGTGAGCGAGGGAGTAACTGGGGAGACTTACGTTAGATGAGGTCATCAGGAAGGTTCCCCTTAACAAGTA... |
Task1_train_23820 | Consider this mutation in COX10 (cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Mitochondrial complex 4 deficiency, nuclear type 3 | GCCTGTAATCTCTGTACTTTGAGAGGCTGAGGCAGGAGGATTGCTTGGGGCCAGGAGTTCAAGGCCAGCCTGGGCAACATGGTGAGACCCCATCTCTACAAAAAGTTGTTTTAAAAAGTTTTCTGAGTTTGGTGACGTGCACCTATAGTGCCAGCTATTCAGGAGGCTGAGGCAGGAGGATGACTTGAGCCCAAGAGATCGAGGCTGCAGTGAGCTGAGACTGTGCCACTGCACTCCAGCCAACCTTGTCCTGAGGAACTTTCCCTGTCATTCTCAGCACTCCAGCCAAACCACACCACCTTCCTTTTTTTTTAATCATG... | GCCTGTAATCTCTGTACTTTGAGAGGCTGAGGCAGGAGGATTGCTTGGGGCCAGGAGTTCAAGGCCAGCCTGGGCAACATGGTGAGACCCCATCTCTACAAAAAGTTGTTTTAAAAAGTTTTCTGAGTTTGGTGACGTGCACCTATAGTGCCAGCTATTCAGGAGGCTGAGGCAGGAGGATGACTTGAGCCCAAGAGATCGAGGCTGCAGTGAGCTGAGACTGTGCCACTGCACTCCAGCCAACCTTGTCCTGAGGAACTTTCCCTGTCATTCTCAGCACTCCAGCCAAACCACACCACCTTCCTTTTTTTTTAATCATG... |
Task1_train_23821 | Here’s a variant in PMP22 (peripheral myelin protein 22) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Charcot-Marie-Tooth disease, type I | TTGGCATCCCCATTTTATAGATGAGAAAACTGAATCTTAGTGTTTACGTAACCTTTTCAGGCCCCTATGGCTGGTAAGCAGCAAAGGACAGGCTCAAACCCAGGCTCTCATTTCTATGCTCTTAACCTTATTATAATATAGTCACTTGTTTACTTGTACCTCTCACTAAAATGTGACCTTTCGATGTTAAGATATATGTCATTACTTCTTTATCTTTGGTACCCAATTCAAAATAGTTGCACAATAAATATTAAGGACTATCAACCACATCATTTGCTTGTTATTTTGCAGACACACAACAAAAGGTCGACGGGTAAAAA... | TTGGCATCCCCATTTTATAGATGAGAAAACTGAATCTTAGTGTTTACGTAACCTTTTCAGGCCCCTATGGCTGGTAAGCAGCAAAGGACAGGCTCAAACCCAGGCTCTCATTTCTATGCTCTTAACCTTATTATAATATAGTCACTTGTTTACTTGTACCTCTCACTAAAATGTGACCTTTCGATGTTAAGATATATGTCATTACTTCTTTATCTTTGGTACCCAATTCAAAATAGTTGCACAATAAATATTAAGGACTATCAACCACATCATTTGCTTGTTATTTTGCAGACACACAACAAAAGGTCGACGGGTAAAAA... |
Task1_train_23822 | Here is a variant affecting PMP22 (peripheral myelin protein 22) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Charcot-Marie-Tooth disease, type IA | TTGGCATCCCCATTTTATAGATGAGAAAACTGAATCTTAGTGTTTACGTAACCTTTTCAGGCCCCTATGGCTGGTAAGCAGCAAAGGACAGGCTCAAACCCAGGCTCTCATTTCTATGCTCTTAACCTTATTATAATATAGTCACTTGTTTACTTGTACCTCTCACTAAAATGTGACCTTTCGATGTTAAGATATATGTCATTACTTCTTTATCTTTGGTACCCAATTCAAAATAGTTGCACAATAAATATTAAGGACTATCAACCACATCATTTGCTTGTTATTTTGCAGACACACAACAAAAGGTCGACGGGTAAAAA... | TTGGCATCCCCATTTTATAGATGAGAAAACTGAATCTTAGTGTTTACGTAACCTTTTCAGGCCCCTATGGCTGGTAAGCAGCAAAGGACAGGCTCAAACCCAGGCTCTCATTTCTATGCTCTTAACCTTATTATAATATAGTCACTTGTTTACTTGTACCTCTCACTAAAATGTGACCTTTCGATGTTAAGATATATGTCATTACTTCTTTATCTTTGGTACCCAATTCAAAATAGTTGCACAATAAATATTAAGGACTATCAACCACATCATTTGCTTGTTATTTTGCAGACACACAACAAAAGGTCGACGGGTAAAAA... |
Task1_train_23823 | This alteration in PMP22 (peripheral myelin protein 22) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Charcot-Marie-Tooth disease, type I | TTGGCATCCCCATTTTATAGATGAGAAAACTGAATCTTAGTGTTTACGTAACCTTTTCAGGCCCCTATGGCTGGTAAGCAGCAAAGGACAGGCTCAAACCCAGGCTCTCATTTCTATGCTCTTAACCTTATTATAATATAGTCACTTGTTTACTTGTACCTCTCACTAAAATGTGACCTTTCGATGTTAAGATATATGTCATTACTTCTTTATCTTTGGTACCCAATTCAAAATAGTTGCACAATAAATATTAAGGACTATCAACCACATCATTTGCTTGTTATTTTGCAGACACACAACAAAAGGTCGACGGGTAAAAA... | TTGGCATCCCCATTTTATAGATGAGAAAACTGAATCTTAGTGTTTACGTAACCTTTTCAGGCCCCTATGGCTGGTAAGCAGCAAAGGACAGGCTCAAACCCAGGCTCTCATTTCTATGCTCTTAACCTTATTATAATATAGTCACTTGTTTACTTGTACCTCTCACTAAAATGTGACCTTTCGATGTTAAGATATATGTCATTACTTCTTTATCTTTGGTACCCAATTCAAAATAGTTGCACAATAAATATTAAGGACTATCAACCACATCATTTGCTTGTTATTTTGCAGACACACAACAAAAGGTCGACGGGTAAAAA... |
Task1_train_23824 | Mutation context: Chromosome 17, Gene PMP22 (peripheral myelin protein 22). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Charcot-Marie-Tooth disease, type I | GGCATCCCCATTTTATAGATGAGAAAACTGAATCTTAGTGTTTACGTAACCTTTTCAGGCCCCTATGGCTGGTAAGCAGCAAAGGACAGGCTCAAACCCAGGCTCTCATTTCTATGCTCTTAACCTTATTATAATATAGTCACTTGTTTACTTGTACCTCTCACTAAAATGTGACCTTTCGATGTTAAGATATATGTCATTACTTCTTTATCTTTGGTACCCAATTCAAAATAGTTGCACAATAAATATTAAGGACTATCAACCACATCATTTGCTTGTTATTTTGCAGACACACAACAAAAGGTCGACGGGTAAAAATA... | GGCATCCCCATTTTATAGATGAGAAAACTGAATCTTAGTGTTTACGTAACCTTTTCAGGCCCCTATGGCTGGTAAGCAGCAAAGGACAGGCTCAAACCCAGGCTCTCATTTCTATGCTCTTAACCTTATTATAATATAGTCACTTGTTTACTTGTACCTCTCACTAAAATGTGACCTTTCGATGTTAAGATATATGTCATTACTTCTTTATCTTTGGTACCCAATTCAAAATAGTTGCACAATAAATATTAAGGACTATCAACCACATCATTTGCTTGTTATTTTGCAGACACACAACAAAAGGTCGACGGGTAAAAATA... |
Task1_train_23825 | Given this context: Chromosome 17, gene PMP22 (peripheral myelin protein 22) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Dejerine-Sottas disease | TTCAATGTGACTGGGTCTTATAGTACAGGCTTGTATTCATCACAGATGTTTGGAACTTCAGAATAATACATGGTGCAAATTTGCATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACA... | TTCAATGTGACTGGGTCTTATAGTACAGGCTTGTATTCATCACAGATGTTTGGAACTTCAGAATAATACATGGTGCAAATTTGCATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACA... |
Task1_train_23826 | A variant on Chromosome 17 in gene PMP22 (peripheral myelin protein 22) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Charcot-Marie-Tooth disease, type I | ATAATACATGGTGCAAATTTGCATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGC... | ATAATACATGGTGCAAATTTGCATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGC... |
Task1_train_23827 | A variant was discovered in gene PMP22 (peripheral myelin protein 22), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Charcot-Marie-Tooth disease, type I | ATAATACATGGTGCAAATTTGCATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGC... | ATAATACATGGTGCAAATTTGCATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGC... |
Task1_train_23828 | This variant lies on Chromosome 17 and affects the gene PMP22 (peripheral myelin protein 22). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Inborn genetic diseases | CATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGG... | CATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGG... |
Task1_train_23829 | This alteration in PMP22 (peripheral myelin protein 22) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Charcot-Marie-Tooth disease, type IA | CATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGG... | CATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGG... |
Task1_train_23830 | This variant affects the gene PMP22 (peripheral myelin protein 22) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Charcot-Marie-Tooth disease, type I | CATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGG... | CATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGG... |
Task1_train_23831 | The gene PMP22 (peripheral myelin protein 22) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Charcot-Marie-Tooth disease, type I | ATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGGC... | ATTTACCTTCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGGC... |
Task1_train_23832 | This variant affects the gene PMP22 (peripheral myelin protein 22) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Charcot-Marie-Tooth disease, type I | TCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGGCATGAAAAC... | TCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGGCATGAAAAC... |
Task1_train_23833 | The gene PMP22 (peripheral myelin protein 22) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Charcot-Marie-Tooth disease, type IA | TCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGGCATGAAAAC... | TCCATTGTAAATCAGTTCCAATAAAAGATAATATAAAAGGCAGAGCTTCTGCCTTGGATTTTGTGTTCTTTAAATTTTTTGGTGCATTCTGTCTTTAAAATATAAGAAGTACCTCACTATATTCAGTGTAACACTCAACCGTCCCTGTCATGAGCTGGGTGACCTTGGTCATTCATTTATCCTCTGGTGGGCTCAAATTATTCATCAGTAAAATAACGAGCCTGTACAAATAAAATGTAATTTTTTTCACATCAGATGGGTAACGTGCCAAATCATAACAAGGTTTGAGCGAGGCACATCTCACACATGGGCATGAAAAC... |
Task1_train_23834 | A variant was discovered on Chromosome 17, affecting PMP22 (peripheral myelin protein 22). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Charcot-Marie-Tooth disease, type 1a, with focally folded myelin sheaths | GGAGGCATTGTAAATGAACTCAAGAACATGAGCTTGGCACAGAAGGAACAAGTTGAGAGATAAGAAGTTTCCTGATTAAAATAACCCTAGTGCCTCTTTGAGATCTGCTTCTAGCACCAACTGACAGCTATTTCCAACGGCAGAAGACACCAAATGTCAATCTGTAACATGCTACAGGTCAATATTGCTTTCTTTCCTGCAGATGGTTTAAGCACAACTTAGCAACTCCTCTGCCGCCTCGTTTCTGCTGAAACTTCGCCGGGTTTTAACACGCCTGCCAAAACTGCCCCCTTCCGGGCCCAAGAGTCCAGGATTCTGTG... | GGAGGCATTGTAAATGAACTCAAGAACATGAGCTTGGCACAGAAGGAACAAGTTGAGAGATAAGAAGTTTCCTGATTAAAATAACCCTAGTGCCTCTTTGAGATCTGCTTCTAGCACCAACTGACAGCTATTTCCAACGGCAGAAGACACCAAATGTCAATCTGTAACATGCTACAGGTCAATATTGCTTTCTTTCCTGCAGATGGTTTAAGCACAACTTAGCAACTCCTCTGCCGCCTCGTTTCTGCTGAAACTTCGCCGGGTTTTAACACGCCTGCCAAAACTGCCCCCTTCCGGGCCCAAGAGTCCAGGATTCTGTG... |
Task1_train_23835 | This variant lies on Chromosome 17 and affects the gene PMP22 (peripheral myelin protein 22). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hereditary liability to pressure palsies | ACCTGGAAAGGCAGCCAGTCTTGTGTCCATGTAACTGACGGTGCAGTGAGCTAGCCCCACTGTCACTGCAGCAGAAAGGGGCAGGACATTTCTGAATAGAGACAGCCACCAAACCAAAGATACACGTTTGATCCAATGTCCCAAGGGGGTCTGCCAAAGGCTTAGCTATCATACCACCTTCACAGCTCCCAGGTCGATATTTTTTTCAATCACAAAAAGCATTATCCTAAGTGATCAGGAGGGCACTAAGGGCATGTCTCTAGGTAGAGTGAATCACAATGATGCCCAGGATCTCAGCTTCCCCAGCGAGATCACCACCC... | ACCTGGAAAGGCAGCCAGTCTTGTGTCCATGTAACTGACGGTGCAGTGAGCTAGCCCCACTGTCACTGCAGCAGAAAGGGGCAGGACATTTCTGAATAGAGACAGCCACCAAACCAAAGATACACGTTTGATCCAATGTCCCAAGGGGGTCTGCCAAAGGCTTAGCTATCATACCACCTTCACAGCTCCCAGGTCGATATTTTTTTCAATCACAAAAAGCATTATCCTAAGTGATCAGGAGGGCACTAAGGGCATGTCTCTAGGTAGAGTGAATCACAATGATGCCCAGGATCTCAGCTTCCCCAGCGAGATCACCACCC... |
Task1_train_23836 | An alteration has been detected in PMP22 (peripheral myelin protein 22) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Charcot-Marie-Tooth disease, type IA | ACCTGGAAAGGCAGCCAGTCTTGTGTCCATGTAACTGACGGTGCAGTGAGCTAGCCCCACTGTCACTGCAGCAGAAAGGGGCAGGACATTTCTGAATAGAGACAGCCACCAAACCAAAGATACACGTTTGATCCAATGTCCCAAGGGGGTCTGCCAAAGGCTTAGCTATCATACCACCTTCACAGCTCCCAGGTCGATATTTTTTTCAATCACAAAAAGCATTATCCTAAGTGATCAGGAGGGCACTAAGGGCATGTCTCTAGGTAGAGTGAATCACAATGATGCCCAGGATCTCAGCTTCCCCAGCGAGATCACCACCC... | ACCTGGAAAGGCAGCCAGTCTTGTGTCCATGTAACTGACGGTGCAGTGAGCTAGCCCCACTGTCACTGCAGCAGAAAGGGGCAGGACATTTCTGAATAGAGACAGCCACCAAACCAAAGATACACGTTTGATCCAATGTCCCAAGGGGGTCTGCCAAAGGCTTAGCTATCATACCACCTTCACAGCTCCCAGGTCGATATTTTTTTCAATCACAAAAAGCATTATCCTAAGTGATCAGGAGGGCACTAAGGGCATGTCTCTAGGTAGAGTGAATCACAATGATGCCCAGGATCTCAGCTTCCCCAGCGAGATCACCACCC... |
Task1_train_23837 | Here is a genetic alteration in PMP22 (peripheral myelin protein 22) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Charcot-Marie-Tooth disease, type I | TCTTGTGTCCATGTAACTGACGGTGCAGTGAGCTAGCCCCACTGTCACTGCAGCAGAAAGGGGCAGGACATTTCTGAATAGAGACAGCCACCAAACCAAAGATACACGTTTGATCCAATGTCCCAAGGGGGTCTGCCAAAGGCTTAGCTATCATACCACCTTCACAGCTCCCAGGTCGATATTTTTTTCAATCACAAAAAGCATTATCCTAAGTGATCAGGAGGGCACTAAGGGCATGTCTCTAGGTAGAGTGAATCACAATGATGCCCAGGATCTCAGCTTCCCCAGCGAGATCACCACCCCTCCCATTTTCCCTGGAC... | TCTTGTGTCCATGTAACTGACGGTGCAGTGAGCTAGCCCCACTGTCACTGCAGCAGAAAGGGGCAGGACATTTCTGAATAGAGACAGCCACCAAACCAAAGATACACGTTTGATCCAATGTCCCAAGGGGGTCTGCCAAAGGCTTAGCTATCATACCACCTTCACAGCTCCCAGGTCGATATTTTTTTCAATCACAAAAAGCATTATCCTAAGTGATCAGGAGGGCACTAAGGGCATGTCTCTAGGTAGAGTGAATCACAATGATGCCCAGGATCTCAGCTTCCCCAGCGAGATCACCACCCCTCCCATTTTCCCTGGAC... |
Task1_train_23838 | A variant found in Chromosome 17 affects PMP22 (peripheral myelin protein 22). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Charcot-Marie-Tooth disease, type I | TGTAACTGACGGTGCAGTGAGCTAGCCCCACTGTCACTGCAGCAGAAAGGGGCAGGACATTTCTGAATAGAGACAGCCACCAAACCAAAGATACACGTTTGATCCAATGTCCCAAGGGGGTCTGCCAAAGGCTTAGCTATCATACCACCTTCACAGCTCCCAGGTCGATATTTTTTTCAATCACAAAAAGCATTATCCTAAGTGATCAGGAGGGCACTAAGGGCATGTCTCTAGGTAGAGTGAATCACAATGATGCCCAGGATCTCAGCTTCCCCAGCGAGATCACCACCCCTCCCATTTTCCCTGGACTCATGGCTCCC... | TGTAACTGACGGTGCAGTGAGCTAGCCCCACTGTCACTGCAGCAGAAAGGGGCAGGACATTTCTGAATAGAGACAGCCACCAAACCAAAGATACACGTTTGATCCAATGTCCCAAGGGGGTCTGCCAAAGGCTTAGCTATCATACCACCTTCACAGCTCCCAGGTCGATATTTTTTTCAATCACAAAAAGCATTATCCTAAGTGATCAGGAGGGCACTAAGGGCATGTCTCTAGGTAGAGTGAATCACAATGATGCCCAGGATCTCAGCTTCCCCAGCGAGATCACCACCCCTCCCATTTTCCCTGGACTCATGGCTCCC... |
Task1_train_23839 | This mutation is located in gene TEKT3 (tektin 3) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Spermatogenic failure 81 | ATGGTGCCTCTCTGGGAGTGGTGAGAGATTTGTAGTCCCAGAGCACACCGCTCTGTCCAGGTCAGCTAAGGGGTACCACTGGCGGTTGATTTACCTTTGCTAAGTGCGTCTGAATCTTATTCTTAGCATCTGCAGTCTCAGCAATGCGATTGGTGAAAGACAAGTTCACTTTGTTGAATTGATTCCACATCTCATTGGCAGTCACAACCAAGAGGTTTTCAATGTCGTCTCTTAGCTTAGCGGAAGCTGCCCGTTCACTCTGGGAGCGGAGAATATTGTCATCTGTAAATTTGGCCCAGGACTCAGGCACTGAGACACTG... | ATGGTGCCTCTCTGGGAGTGGTGAGAGATTTGTAGTCCCAGAGCACACCGCTCTGTCCAGGTCAGCTAAGGGGTACCACTGGCGGTTGATTTACCTTTGCTAAGTGCGTCTGAATCTTATTCTTAGCATCTGCAGTCTCAGCAATGCGATTGGTGAAAGACAAGTTCACTTTGTTGAATTGATTCCACATCTCATTGGCAGTCACAACCAAGAGGTTTTCAATGTCGTCTCTTAGCTTAGCGGAAGCTGCCCGTTCACTCTGGGAGCGGAGAATATTGTCATCTGTAAATTTGGCCCAGGACTCAGGCACTGAGACACTG... |
Task1_train_23840 | This mutation is located in gene TEKT3 (tektin 3) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Spermatogenic failure 81 | TACCAGAAGAAGAATTAACGGGTAGAGGGGAACTCTGATTATTTTGATATGTATTACCAAACTGCTTCCCAGGAAATTTCTACCAATCCATAGCCCCACCAGTAATATATGAAAGTGCCCATTTGCTGCTCTTACGCCAGCTCTAAATGTCATGCATTTTCATTATTGCAAATTTGATAGGCCAAAGGTAGTTATTTCATTGATTTAATTTGTATTTTATCATTAAGCTTTAACATTTTTTCTTATATTTGTTGATCGCCTATATTTTCTCTTTGGAGGCTTATCTGTTCATGTGACTCAATTTAAAAAGGACCCTCTAA... | TACCAGAAGAAGAATTAACGGGTAGAGGGGAACTCTGATTATTTTGATATGTATTACCAAACTGCTTCCCAGGAAATTTCTACCAATCCATAGCCCCACCAGTAATATATGAAAGTGCCCATTTGCTGCTCTTACGCCAGCTCTAAATGTCATGCATTTTCATTATTGCAAATTTGATAGGCCAAAGGTAGTTATTTCATTGATTTAATTTGTATTTTATCATTAAGCTTTAACATTTTTTCTTATATTTGTTGATCGCCTATATTTTCTCTTTGGAGGCTTATCTGTTCATGTGACTCAATTTAAAAAGGACCCTCTAA... |
Task1_train_23841 | This mutation is located in gene FLCN (folliculin) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | GCTGCTCCGATGCCAATGCAGTCACTTGTGAGACAAAAGGTAAACTGCACAAGGGCTTGCAGCCTGGAGAACACTCAGGAGTCTGTCCGTTTTGTCGGACATGATCACAGTATTGTGATTATATTTATGGCTGGAATGATACGACTCAGATTTGCTTTAAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACATGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATAAAAAAATTAGCTGGGTGTGG... | GCTGCTCCGATGCCAATGCAGTCACTTGTGAGACAAAAGGTAAACTGCACAAGGGCTTGCAGCCTGGAGAACACTCAGGAGTCTGTCCGTTTTGTCGGACATGATCACAGTATTGTGATTATATTTATGGCTGGAATGATACGACTCAGATTTGCTTTAAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACATGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATAAAAAAATTAGCTGGGTGTGG... |
Task1_train_23842 | This genomic variant is located on Chromosome 17, within the RAI1 (retinoic acid induced 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Smith-Magenis syndrome | CAGCCCCGAGCAGAGGCCTGGCATGCAGGACCCGCTGTCACCCAAGGCCCCACTCATCTGCACCAAGGAGGAGGTGGAGGAGGTGCTGGACTCCAAGGCCGGCTGGGGCTCTCCGTGCCACCTCTCAGGGGAGTCCGTCATCCTGCTGGGCCCTACAGTGGGCACCGAGTCAAAGGTCCAGAGCTGGTTTGAGTCCTCTCTGTCACACATGAAGCCAGGTGAAGAGGGGCCTGATGGGGAGCGAGCTCCAGGGGATTCCACCACCTCGGACGCCTCTCTGGCCCAGAAGCCCAACAAGCCTGCTGTGCCCGAGGCGCCCA... | CAGCCCCGAGCAGAGGCCTGGCATGCAGGACCCGCTGTCACCCAAGGCCCCACTCATCTGCACCAAGGAGGAGGTGGAGGAGGTGCTGGACTCCAAGGCCGGCTGGGGCTCTCCGTGCCACCTCTCAGGGGAGTCCGTCATCCTGCTGGGCCCTACAGTGGGCACCGAGTCAAAGGTCCAGAGCTGGTTTGAGTCCTCTCTGTCACACATGAAGCCAGGTGAAGAGGGGCCTGATGGGGAGCGAGCTCCAGGGGATTCCACCACCTCGGACGCCTCTCTGGCCCAGAAGCCCAACAAGCCTGCTGTGCCCGAGGCGCCCA... |
Task1_train_23843 | This variant lies on Chromosome 17 and affects the gene SREBF1 (sterol regulatory element binding transcription factor 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; IFAP syndrome 1, with or without BRESHECK syndrome | CCCCATCAGCTGACCCAGGGCTGGGGTTGGGCTGGGTCACACAGTTCAGTGCTCGCTCTAAGAGATGTTCCCGGAATAGCTGAGTCACCTGGGCCAGGGGGTCCACTGTGGAGAGGAGGAGGTGAGTGGGGTGGGGAGCAGGGCCCCACCCTCCTCTCCAAGCTAAGGGCTTTTTCCTGGGTGGGCTGGGGCCACACCTAGGGCCACTGGGAAGTGCCGGCATGCCCCTGGGTGCAGCCCCTGCCAAGGACAGGGGAAAGCGGGTGGACATAACTATCACCAGCACCAGCCTTGGCCAGGAGACAACACTGAGGCCTGCC... | CCCCATCAGCTGACCCAGGGCTGGGGTTGGGCTGGGTCACACAGTTCAGTGCTCGCTCTAAGAGATGTTCCCGGAATAGCTGAGTCACCTGGGCCAGGGGGTCCACTGTGGAGAGGAGGAGGTGAGTGGGGTGGGGAGCAGGGCCCCACCCTCCTCTCCAAGCTAAGGGCTTTTTCCTGGGTGGGCTGGGGCCACACCTAGGGCCACTGGGAAGTGCCGGCATGCCCCTGGGTGCAGCCCCTGCCAAGGACAGGGGAAAGCGGGTGGACATAACTATCACCAGCACCAGCCTTGGCCAGGAGACAACACTGAGGCCTGCC... |
Task1_train_23844 | Given this context: Chromosome 17, gene SREBF1 (sterol regulatory element binding transcription factor 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; IFAP syndrome 2 | CCCCATCAGCTGACCCAGGGCTGGGGTTGGGCTGGGTCACACAGTTCAGTGCTCGCTCTAAGAGATGTTCCCGGAATAGCTGAGTCACCTGGGCCAGGGGGTCCACTGTGGAGAGGAGGAGGTGAGTGGGGTGGGGAGCAGGGCCCCACCCTCCTCTCCAAGCTAAGGGCTTTTTCCTGGGTGGGCTGGGGCCACACCTAGGGCCACTGGGAAGTGCCGGCATGCCCCTGGGTGCAGCCCCTGCCAAGGACAGGGGAAAGCGGGTGGACATAACTATCACCAGCACCAGCCTTGGCCAGGAGACAACACTGAGGCCTGCC... | CCCCATCAGCTGACCCAGGGCTGGGGTTGGGCTGGGTCACACAGTTCAGTGCTCGCTCTAAGAGATGTTCCCGGAATAGCTGAGTCACCTGGGCCAGGGGGTCCACTGTGGAGAGGAGGAGGTGAGTGGGGTGGGGAGCAGGGCCCCACCCTCCTCTCCAAGCTAAGGGCTTTTTCCTGGGTGGGCTGGGGCCACACCTAGGGCCACTGGGAAGTGCCGGCATGCCCCTGGGTGCAGCCCCTGCCAAGGACAGGGGAAAGCGGGTGGACATAACTATCACCAGCACCAGCCTTGGCCAGGAGACAACACTGAGGCCTGCC... |
Task1_train_23845 | This is a variant in SREBF1 (sterol regulatory element binding transcription factor 1), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Hereditary mucoepithelial dysplasia | TGACCCAGGGCTGGGGTTGGGCTGGGTCACACAGTTCAGTGCTCGCTCTAAGAGATGTTCCCGGAATAGCTGAGTCACCTGGGCCAGGGGGTCCACTGTGGAGAGGAGGAGGTGAGTGGGGTGGGGAGCAGGGCCCCACCCTCCTCTCCAAGCTAAGGGCTTTTTCCTGGGTGGGCTGGGGCCACACCTAGGGCCACTGGGAAGTGCCGGCATGCCCCTGGGTGCAGCCCCTGCCAAGGACAGGGGAAAGCGGGTGGACATAACTATCACCAGCACCAGCCTTGGCCAGGAGACAACACTGAGGCCTGCCCTACACTGCT... | TGACCCAGGGCTGGGGTTGGGCTGGGTCACACAGTTCAGTGCTCGCTCTAAGAGATGTTCCCGGAATAGCTGAGTCACCTGGGCCAGGGGGTCCACTGTGGAGAGGAGGAGGTGAGTGGGGTGGGGAGCAGGGCCCCACCCTCCTCTCCAAGCTAAGGGCTTTTTCCTGGGTGGGCTGGGGCCACACCTAGGGCCACTGGGAAGTGCCGGCATGCCCCTGGGTGCAGCCCCTGCCAAGGACAGGGGAAAGCGGGTGGACATAACTATCACCAGCACCAGCCTTGGCCAGGAGACAACACTGAGGCCTGCCCTACACTGCT... |
Task1_train_23846 | Here is a mutation in SREBF1 (sterol regulatory element binding transcription factor 1) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; IFAP syndrome 2 | TGACCCAGGGCTGGGGTTGGGCTGGGTCACACAGTTCAGTGCTCGCTCTAAGAGATGTTCCCGGAATAGCTGAGTCACCTGGGCCAGGGGGTCCACTGTGGAGAGGAGGAGGTGAGTGGGGTGGGGAGCAGGGCCCCACCCTCCTCTCCAAGCTAAGGGCTTTTTCCTGGGTGGGCTGGGGCCACACCTAGGGCCACTGGGAAGTGCCGGCATGCCCCTGGGTGCAGCCCCTGCCAAGGACAGGGGAAAGCGGGTGGACATAACTATCACCAGCACCAGCCTTGGCCAGGAGACAACACTGAGGCCTGCCCTACACTGCT... | TGACCCAGGGCTGGGGTTGGGCTGGGTCACACAGTTCAGTGCTCGCTCTAAGAGATGTTCCCGGAATAGCTGAGTCACCTGGGCCAGGGGGTCCACTGTGGAGAGGAGGAGGTGAGTGGGGTGGGGAGCAGGGCCCCACCCTCCTCTCCAAGCTAAGGGCTTTTTCCTGGGTGGGCTGGGGCCACACCTAGGGCCACTGGGAAGTGCCGGCATGCCCCTGGGTGCAGCCCCTGCCAAGGACAGGGGAAAGCGGGTGGACATAACTATCACCAGCACCAGCCTTGGCCAGGAGACAACACTGAGGCCTGCCCTACACTGCT... |
Task1_train_23847 | A change on Chromosome 17 affects gene ATPAF2 (ATP synthase mitochondrial F1 complex assembly factor 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 | GAGAGGGTTTCTTCTTCCACTGATAACCATCTGGGCAAATCAGGAAAAATAGCCTCAATCCAAGGGGAATGCCCATCTAAATGTCCATTACCAGATGGTGTCGGTGTCCAGAAACTTCACGGCTGCCCGGATCAGCTGATCCTTGTTTCTCTGGGTTGGGTTGTCCAATGATGTGTTGCACAATGTGGTCTGAATCAAAGGCAAAAACCACCCTGTCACTGCCTGCGGGGCTCAGGCAAAAGCCCTGCTTTCCTGAGGACACCACATCTGACACATAGCAGACAGCACCACAGCACAGCCCTCCACCAGAGGCGTCTGCA... | GAGAGGGTTTCTTCTTCCACTGATAACCATCTGGGCAAATCAGGAAAAATAGCCTCAATCCAAGGGGAATGCCCATCTAAATGTCCATTACCAGATGGTGTCGGTGTCCAGAAACTTCACGGCTGCCCGGATCAGCTGATCCTTGTTTCTCTGGGTTGGGTTGTCCAATGATGTGTTGCACAATGTGGTCTGAATCAAAGGCAAAAACCACCCTGTCACTGCCTGCGGGGCTCAGGCAAAAGCCCTGCTTTCCTGAGGACACCACATCTGACACATAGCAGACAGCACCACAGCACAGCCCTCCACCAGAGGCGTCTGCA... |
Task1_train_23848 | This alteration in MYO15A (myosin XVA) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 3 | CCTGTCCCTGTTTCACAGCTGAGCACGTTGAGGCTCTGAAGCCACTGATCTGAGGGCGTGGAGCTGGCAAGTGGCAGAACCAGGGCCAGAACCTTGCTGCTTTGGGGTCTCCTATGCTAAACCTTAAACAACCAAAGAATTAGCTCTGGGACCAAAAGAGTGAACCAGAGTTCAGTGAGTTGAGGTCCATCTTGAGGAGGAAGAGGAGGAGGAGAGCTGGTTCTGAGGCTTCAGGTCTCAGAGCTGCCACTCCCCACCTCCGCTGGCCTGCCCAGTTTTTCCCACCCCCTACCTCTTTTAGTGCAGGTTCTCAAAAGTGA... | CCTGTCCCTGTTTCACAGCTGAGCACGTTGAGGCTCTGAAGCCACTGATCTGAGGGCGTGGAGCTGGCAAGTGGCAGAACCAGGGCCAGAACCTTGCTGCTTTGGGGTCTCCTATGCTAAACCTTAAACAACCAAAGAATTAGCTCTGGGACCAAAAGAGTGAACCAGAGTTCAGTGAGTTGAGGTCCATCTTGAGGAGGAAGAGGAGGAGGAGAGCTGGTTCTGAGGCTTCAGGTCTCAGAGCTGCCACTCCCCACCTCCGCTGGCCTGCCCAGTTTTTCCCACCCCCTACCTCTTTTAGTGCAGGTTCTCAAAAGTGA... |
Task1_train_23849 | An alteration has been detected in MYO15A (myosin XVA) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 3 | AATTAGCTCTGGGACCAAAAGAGTGAACCAGAGTTCAGTGAGTTGAGGTCCATCTTGAGGAGGAAGAGGAGGAGGAGAGCTGGTTCTGAGGCTTCAGGTCTCAGAGCTGCCACTCCCCACCTCCGCTGGCCTGCCCAGTTTTTCCCACCCCCTACCTCTTTTAGTGCAGGTTCTCAAAAGTGAGTTAGACTGGCCACCAACCAGACTTTGGACATGCAGCCTTAGGTCAGGCCATATGAAGCAATCAGCTATGCCCAGAGAAGGCAGTAACCACATGGCCACAGCCTACTCAGCCAGGGCAGAAAGTAAGAGGAGAGGAC... | AATTAGCTCTGGGACCAAAAGAGTGAACCAGAGTTCAGTGAGTTGAGGTCCATCTTGAGGAGGAAGAGGAGGAGGAGAGCTGGTTCTGAGGCTTCAGGTCTCAGAGCTGCCACTCCCCACCTCCGCTGGCCTGCCCAGTTTTTCCCACCCCCTACCTCTTTTAGTGCAGGTTCTCAAAAGTGAGTTAGACTGGCCACCAACCAGACTTTGGACATGCAGCCTTAGGTCAGGCCATATGAAGCAATCAGCTATGCCCAGAGAAGGCAGTAACCACATGGCCACAGCCTACTCAGCCAGGGCAGAAAGTAAGAGGAGAGGAC... |
Task1_train_23850 | This sequence variant lies in MYO15A (myosin XVA) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 3 | GGACCCACACAGCCAGTCAGTGACAGAGCCTAGGGTCTGAGCCAGGCCTGACCCAACCTCCATTTCTGCCTCTCTACCCCTGCCCCCGCCCCAACACACACACACACACAAGTGGAGTTCCACTGAAACGCCCCTCCTTGCCCTGCCTTCTGAGCCGGCAGCCTGGCTCCCCACCCCATGTATTATTCAGCTCCTGAGAGCCAGCCAGCTCCTGTTACACTGACCGCAGCCCAGCACCTGCTCTGCCCATTCCCCTCCTCCCTTGCCTAGGACCTAGAGGGTTCAAAGTTCTCCTCCAAGATGACTTGGTGGGCTTTGGC... | GGACCCACACAGCCAGTCAGTGACAGAGCCTAGGGTCTGAGCCAGGCCTGACCCAACCTCCATTTCTGCCTCTCTACCCCTGCCCCCGCCCCAACACACACACACACACAAGTGGAGTTCCACTGAAACGCCCCTCCTTGCCCTGCCTTCTGAGCCGGCAGCCTGGCTCCCCACCCCATGTATTATTCAGCTCCTGAGAGCCAGCCAGCTCCTGTTACACTGACCGCAGCCCAGCACCTGCTCTGCCCATTCCCCTCCTCCCTTGCCTAGGACCTAGAGGGTTCAAAGTTCTCCTCCAAGATGACTTGGTGGGCTTTGGC... |
Task1_train_23851 | A genetic alteration is present in MYO15A (myosin XVA) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 3 | GGTCTCCTAGCTGGTTGGTGTCAGAAACAGGACTTGAATTCAGGCCTATCTGATCAAGGCACTGCACTGAGTTGGGGAGGGAGACCCATGCCAGAACCAGCCCTGGGGGCACTGACGGCTTCTCTCTGTGTCCTTCTAGAGACCTCCAGGAAACCACTGTGCTGTCCAACCTCAAGATTAGATTTGAACGGAACCTCATCTACGTAAGGCCTGGGGCTGGCCCTGCCCTGGGCCTAGGTCAGGAAGGCAGCTGCCTCCTGGGGCCGGGTGGGACGCACAGATTTCTCTTGTGGGCCCTAGCCCCTGTGGCCTCTGCCTAG... | GGTCTCCTAGCTGGTTGGTGTCAGAAACAGGACTTGAATTCAGGCCTATCTGATCAAGGCACTGCACTGAGTTGGGGAGGGAGACCCATGCCAGAACCAGCCCTGGGGGCACTGACGGCTTCTCTCTGTGTCCTTCTAGAGACCTCCAGGAAACCACTGTGCTGTCCAACCTCAAGATTAGATTTGAACGGAACCTCATCTACGTAAGGCCTGGGGCTGGCCCTGCCCTGGGCCTAGGTCAGGAAGGCAGCTGCCTCCTGGGGCCGGGTGGGACGCACAGATTTCTCTTGTGGGCCCTAGCCCCTGTGGCCTCTGCCTAG... |
Task1_train_23852 | Chromosome 17 houses a mutation in gene MYO15A (myosin XVA). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Nonsyndromic genetic hearing loss | GCAGTATTTCCTGGACTAAATGGGACAGATGGAGGGAACTGGCCCCATCCCCAAAATTACAGGTATTGTTTCTGTGGTGACTGGACCTCCTTTGCTTCTTCCCTAAAAGATTATCCTGAGGAAGTGCCTCAGCTGAAGAAAGTGCCACGTACACACTAGGCCCATGCTCATCACTCGAGTGGACTCTGGAGTCCCTGGGCATGTCATTTCACCTCTCTAAGCTTCAGTTTCCTAATCTGCAAAACAGGGGTGATATTAGTACCTACCTCATGGGATTGTTAACAACGGCATTATCAGGGCAATGTGTCTGGCACACAGTA... | GCAGTATTTCCTGGACTAAATGGGACAGATGGAGGGAACTGGCCCCATCCCCAAAATTACAGGTATTGTTTCTGTGGTGACTGGACCTCCTTTGCTTCTTCCCTAAAAGATTATCCTGAGGAAGTGCCTCAGCTGAAGAAAGTGCCACGTACACACTAGGCCCATGCTCATCACTCGAGTGGACTCTGGAGTCCCTGGGCATGTCATTTCACCTCTCTAAGCTTCAGTTTCCTAATCTGCAAAACAGGGGTGATATTAGTACCTACCTCATGGGATTGTTAACAACGGCATTATCAGGGCAATGTGTCTGGCACACAGTA... |
Task1_train_23853 | The gene MYO15A (myosin XVA) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 3 | CACCCAGGCCCCCAGAACAGTGCCTAGCCCCTCAATTCCCACATCTCCTTCTGGAGTCCAGATCCTGGAGGCAACACCCCTCTTGGAGTCCTTCGGTAATGCCAAAACCGTCAGGAACGACAACTCCAGCCGCTTTGGGAAGTTTGTGGAAATCTTTCTGGAAGGGTGAGTTGGGACAGTGGAGGGCCTCCCAAAAGCCTTGCAGTGTCTTCCATGTCCTGCCACAGCCCCTCGGAGCCAACACCAGCCCTCCTACCCTCACTGAGAGCTGACTGTGCTCCCCACCCCAGGGGCGTGATCTCTGGTGCCATAACCTCCCA... | CACCCAGGCCCCCAGAACAGTGCCTAGCCCCTCAATTCCCACATCTCCTTCTGGAGTCCAGATCCTGGAGGCAACACCCCTCTTGGAGTCCTTCGGTAATGCCAAAACCGTCAGGAACGACAACTCCAGCCGCTTTGGGAAGTTTGTGGAAATCTTTCTGGAAGGGTGAGTTGGGACAGTGGAGGGCCTCCCAAAAGCCTTGCAGTGTCTTCCATGTCCTGCCACAGCCCCTCGGAGCCAACACCAGCCCTCCTACCCTCACTGAGAGCTGACTGTGCTCCCCACCCCAGGGGCGTGATCTCTGGTGCCATAACCTCCCA... |
Task1_train_23854 | This genomic variant is located on Chromosome 17, within the MYO15A (myosin XVA) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 3 | ACAACTCCAGCCGCTTTGGGAAGTTTGTGGAAATCTTTCTGGAAGGGTGAGTTGGGACAGTGGAGGGCCTCCCAAAAGCCTTGCAGTGTCTTCCATGTCCTGCCACAGCCCCTCGGAGCCAACACCAGCCCTCCTACCCTCACTGAGAGCTGACTGTGCTCCCCACCCCAGGGGCGTGATCTCTGGTGCCATAACCTCCCAGTACCTGCTTGAGAAATCCAGGATCGTGTTTCAGGTGGGCCACCCCCTCCCAGGCCTCTGTGTTGGGCAGGGTCGGGGTGGGAGGTACAGATACTCAGAGCCTGGCCCCTGGTAGGGCT... | ACAACTCCAGCCGCTTTGGGAAGTTTGTGGAAATCTTTCTGGAAGGGTGAGTTGGGACAGTGGAGGGCCTCCCAAAAGCCTTGCAGTGTCTTCCATGTCCTGCCACAGCCCCTCGGAGCCAACACCAGCCCTCCTACCCTCACTGAGAGCTGACTGTGCTCCCCACCCCAGGGGCGTGATCTCTGGTGCCATAACCTCCCAGTACCTGCTTGAGAAATCCAGGATCGTGTTTCAGGTGGGCCACCCCCTCCCAGGCCTCTGTGTTGGGCAGGGTCGGGGTGGGAGGTACAGATACTCAGAGCCTGGCCCCTGGTAGGGCT... |
Task1_train_23855 | This gene mutation involves MYO15A (myosin XVA) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 3 | TCTCCATGTTGGTCAGGTTGGTCTCGAACTCCTGGCCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGACTACTGGCATGAGCCACAGTGCCCGGCCCTGTTTTTCATATGAACTTTAAATTTAGCCTATCTAGTTCAAAGCACATTCCTGTTGGTATTTTGCATAGACGGATGCACAGGAGGTGGCCTCAGTGGTGAGTGCCCGAGAGATCCAGGCCGTGGCAGAGCTGCTGCAGATCTCCCCTGAGGGCCTGCAGAAGGCCATCACCTTCAAAGTGACCGTGAGTCTGTGGGCATCTGGCCTTCGAACAA... | TCTCCATGTTGGTCAGGTTGGTCTCGAACTCCTGGCCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGACTACTGGCATGAGCCACAGTGCCCGGCCCTGTTTTTCATATGAACTTTAAATTTAGCCTATCTAGTTCAAAGCACATTCCTGTTGGTATTTTGCATAGACGGATGCACAGGAGGTGGCCTCAGTGGTGAGTGCCCGAGAGATCCAGGCCGTGGCAGAGCTGCTGCAGATCTCCCCTGAGGGCCTGCAGAAGGCCATCACCTTCAAAGTGACCGTGAGTCTGTGGGCATCTGGCCTTCGAACAA... |
Task1_train_23856 | This genomic variant is located on Chromosome 17, within the MYO15A (myosin XVA) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 3 | GCCCCAGCTCTGTGACCTTGAGCAAATTGCTTAGCCAGTCTGAGCCTCAGTTCTCTCACTTGGAAAATGGGGTAATAATAGTGCCCAACTCATGGGGCAGGTGTGAAAAATGTAGGGTGGGTTTGATAAAGAGTAGCTCATCAATAGTGACATCACTATGGTCACCCTCATCACTATTATCTGAGGCACATTCCTGCCCTGGAGGTGTCTCAGGCTAGGATTCCATGCCTCTGTCCCCATCCGGGCCTTACTTTTCTCATCTGTAGAATGGGCACAGGACAATGTCCTTCACTGAGGGTGAGGCCAAGACCCAGGTTGGT... | GCCCCAGCTCTGTGACCTTGAGCAAATTGCTTAGCCAGTCTGAGCCTCAGTTCTCTCACTTGGAAAATGGGGTAATAATAGTGCCCAACTCATGGGGCAGGTGTGAAAAATGTAGGGTGGGTTTGATAAAGAGTAGCTCATCAATAGTGACATCACTATGGTCACCCTCATCACTATTATCTGAGGCACATTCCTGCCCTGGAGGTGTCTCAGGCTAGGATTCCATGCCTCTGTCCCCATCCGGGCCTTACTTTTCTCATCTGTAGAATGGGCACAGGACAATGTCCTTCACTGAGGGTGAGGCCAAGACCCAGGTTGGT... |
Task1_train_23857 | This sequence variant lies in MYO15A (myosin XVA) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 3 | GGGCAACCTCCTCATGAGGTCATAGCCAGAGTTCACAACCATGTATCTAACAGGCCACCCTGGGGCCAGGCACACAGTCAGTAACTGTGTGTTCCTTAGACTGAAGGGGAAAAAGCCAGTTATGGGATGGATCCCTTGGAAGATGCTGAGCCCCACCTGTTTTGAGAAGCATGCAAGCCAGGATGACAGAGGCCTTGCAGAGAGAACAGGGGTCCAGTTAGTCTTCAGATCCCCCTGGTCCGGAGATTTACTCCTGCTCTCTCTTCCTCCTCATTTCGGTCTCCCGGACCCTGCCTGTCTGTTTTCCCTGCCCCGACCCC... | GGGCAACCTCCTCATGAGGTCATAGCCAGAGTTCACAACCATGTATCTAACAGGCCACCCTGGGGCCAGGCACACAGTCAGTAACTGTGTGTTCCTTAGACTGAAGGGGAAAAAGCCAGTTATGGGATGGATCCCTTGGAAGATGCTGAGCCCCACCTGTTTTGAGAAGCATGCAAGCCAGGATGACAGAGGCCTTGCAGAGAGAACAGGGGTCCAGTTAGTCTTCAGATCCCCCTGGTCCGGAGATTTACTCCTGCTCTCTCTTCCTCCTCATTTCGGTCTCCCGGACCCTGCCTGTCTGTTTTCCCTGCCCCGACCCC... |
Task1_train_23858 | Here is a mutation in MYO15A (myosin XVA) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 3 | ATGACCTGCCGGCTAATGGGGACATGTGTGTGTCAGTGCTGAGTCGCCTGTGCAAAGTCATGCCAAACATGTACCGTGTTGGGGTCAGCAAGGTGAGTCCTGCCCGACAGTCAGCCCTTGGAGACCCCAAGTTTGGGGGGGTCCACAACTACTGAGTCAGAAATGTCCAAGCTAGAGACTGCCATCCCAGGAGCAACCCAGATGAGCTTGGGATATGGAATGCTAACTACCTGATTCACCAGCATCCTCTCTTCAACCTCTCCAAGTCCACCCCATCCCTCCAGCCCCGCTCCAGGAGGCTGCCCTGCCTATTCTGTCTC... | ATGACCTGCCGGCTAATGGGGACATGTGTGTGTCAGTGCTGAGTCGCCTGTGCAAAGTCATGCCAAACATGTACCGTGTTGGGGTCAGCAAGGTGAGTCCTGCCCGACAGTCAGCCCTTGGAGACCCCAAGTTTGGGGGGGTCCACAACTACTGAGTCAGAAATGTCCAAGCTAGAGACTGCCATCCCAGGAGCAACCCAGATGAGCTTGGGATATGGAATGCTAACTACCTGATTCACCAGCATCCTCTCTTCAACCTCTCCAAGTCCACCCCATCCCTCCAGCCCCGCTCCAGGAGGCTGCCCTGCCTATTCTGTCTC... |
Task1_train_23859 | The gene MYO15A (myosin XVA) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 3 | CATCCTCTCTTCAACCTCTCCAAGTCCACCCCATCCCTCCAGCCCCGCTCCAGGAGGCTGCCCTGCCTATTCTGTCTCCACGGACTTCTAGAGAGGGAGGGGCCCTTAGTCCAGCCTCCTGGCTCCTATCTGCCTCAGTGCCTTCCTCCTGTCCTTAGCTGTTCCTTAAGGAACACCTATACCAGCTGCTGGAGAGTATGCGAGAGCATGTCCTGAATCTGGCAGCCCTCACTCTGCAGCGCTGCCTCCGTGGCTTCTTCATTAAGCGGCGATTCCGCTCTCTGCGCCACAAGATCATCCTGCTGCAAAGCCGGGCCCGT... | CATCCTCTCTTCAACCTCTCCAAGTCCACCCCATCCCTCCAGCCCCGCTCCAGGAGGCTGCCCTGCCTATTCTGTCTCCACGGACTTCTAGAGAGGGAGGGGCCCTTAGTCCAGCCTCCTGGCTCCTATCTGCCTCAGTGCCTTCCTCCTGTCCTTAGCTGTTCCTTAAGGAACACCTATACCAGCTGCTGGAGAGTATGCGAGAGCATGTCCTGAATCTGGCAGCCCTCACTCTGCAGCGCTGCCTCCGTGGCTTCTTCATTAAGCGGCGATTCCGCTCTCTGCGCCACAAGATCATCCTGCTGCAAAGCCGGGCCCGT... |
Task1_train_23860 | Consider this mutation in MYO15A (myosin XVA) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 3 | GCCCAGGTGCCTCAGGTGGCCCCTGTGAGGACTCCTCGACTCCAGGCTGAGCCCCGTGTCACACTGCCCCTGGACATCAACAACTATCCTATGGCCAAGTTTGTCCAGTGCCACTTCAAGGTAAGGGCTAGCTGAAGTCCAAGGCTCCCTGGCTGATAGGCGCTGACCAATTAGAATGGACATTGTCCTTGCCCTGGGGCAGGCTCCTGGCTGTGCCCTGTGGTGTTGGGTATGAGCCTTTTAGTTGCTGGATCATAGGGAATCTGGGAGATCCCTGAGGTCTGGATAGCAGTGGAGAGCCCTCAGGGGCTCGGGCAGGG... | GCCCAGGTGCCTCAGGTGGCCCCTGTGAGGACTCCTCGACTCCAGGCTGAGCCCCGTGTCACACTGCCCCTGGACATCAACAACTATCCTATGGCCAAGTTTGTCCAGTGCCACTTCAAGGTAAGGGCTAGCTGAAGTCCAAGGCTCCCTGGCTGATAGGCGCTGACCAATTAGAATGGACATTGTCCTTGCCCTGGGGCAGGCTCCTGGCTGTGCCCTGTGGTGTTGGGTATGAGCCTTTTAGTTGCTGGATCATAGGGAATCTGGGAGATCCCTGAGGTCTGGATAGCAGTGGAGAGCCCTCAGGGGCTCGGGCAGGG... |
Task1_train_23861 | An alteration has been detected in MYO15A (myosin XVA) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 3 | CCTCAGGTGGCCCCTGTGAGGACTCCTCGACTCCAGGCTGAGCCCCGTGTCACACTGCCCCTGGACATCAACAACTATCCTATGGCCAAGTTTGTCCAGTGCCACTTCAAGGTAAGGGCTAGCTGAAGTCCAAGGCTCCCTGGCTGATAGGCGCTGACCAATTAGAATGGACATTGTCCTTGCCCTGGGGCAGGCTCCTGGCTGTGCCCTGTGGTGTTGGGTATGAGCCTTTTAGTTGCTGGATCATAGGGAATCTGGGAGATCCCTGAGGTCTGGATAGCAGTGGAGAGCCCTCAGGGGCTCGGGCAGGGCTGTTTACC... | CCTCAGGTGGCCCCTGTGAGGACTCCTCGACTCCAGGCTGAGCCCCGTGTCACACTGCCCCTGGACATCAACAACTATCCTATGGCCAAGTTTGTCCAGTGCCACTTCAAGGTAAGGGCTAGCTGAAGTCCAAGGCTCCCTGGCTGATAGGCGCTGACCAATTAGAATGGACATTGTCCTTGCCCTGGGGCAGGCTCCTGGCTGTGCCCTGTGGTGTTGGGTATGAGCCTTTTAGTTGCTGGATCATAGGGAATCTGGGAGATCCCTGAGGTCTGGATAGCAGTGGAGAGCCCTCAGGGGCTCGGGCAGGGCTGTTTACC... |
Task1_train_23862 | This sequence change occurs on Chromosome 17, altering MYO15A (myosin XVA). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 3 | CCGGTGACCAGTGCACCAAGGCCATCCATGGCACCCACTTCAGGTGAGAGGGCCAGGAGGGAGGGAGGGGAGGGTGTCCAAGTATATGAGGAAGTCTGTGGGCACAGGTGAGTGTGTCGGTGGAGTGTGTGTGTCTATGTCCCTGAGCCCCTGTGTACATCTTGTGAGCACATTGGTGTAATTATAATGTCAATACTTAAGTAGCACAGATCTCAGGCCAGGCCCATCCTGGCCTCATGTAATCCTACCAGAACCCTTCAAGGTAGCACTGTTGTTCCTACATGTTGCAGATGGGGAAATGGAGGCACAGATAGGTTAAC... | CCGGTGACCAGTGCACCAAGGCCATCCATGGCACCCACTTCAGGTGAGAGGGCCAGGAGGGAGGGAGGGGAGGGTGTCCAAGTATATGAGGAAGTCTGTGGGCACAGGTGAGTGTGTCGGTGGAGTGTGTGTGTCTATGTCCCTGAGCCCCTGTGTACATCTTGTGAGCACATTGGTGTAATTATAATGTCAATACTTAAGTAGCACAGATCTCAGGCCAGGCCCATCCTGGCCTCATGTAATCCTACCAGAACCCTTCAAGGTAGCACTGTTGTTCCTACATGTTGCAGATGGGGAAATGGAGGCACAGATAGGTTAAC... |
Task1_train_23863 | A variant affecting Chromosome 17, within the gene MYO15A (myosin XVA), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 3 | TGGGAGTCCGAGGCGGGCGGATCACAAGGTCAAGAGATCAAGACCATCCTGGCCAATATGGTGAAACCCCTTCTCTGCTAAAAACACAAAAATTAGCTGGGCGTGGTGGTGGGCACATCCAATAGGTGTTTTTATGTGTTGAATGAAAGGCTGGGTCATATGTGACCCTTGTGAGCAGCTGTTTCCGTGGACTGCTCCTGGGTCCCCTCCTCCACCCGCCCTGCCTCTCCCATTTCATCCTAGGAGGTGCCTGTGGCCGGGCGCAGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGACCACCT... | TGGGAGTCCGAGGCGGGCGGATCACAAGGTCAAGAGATCAAGACCATCCTGGCCAATATGGTGAAACCCCTTCTCTGCTAAAAACACAAAAATTAGCTGGGCGTGGTGGTGGGCACATCCAATAGGTGTTTTTATGTGTTGAATGAAAGGCTGGGTCATATGTGACCCTTGTGAGCAGCTGTTTCCGTGGACTGCTCCTGGGTCCCCTCCTCCACCCGCCCTGCCTCTCCCATTTCATCCTAGGAGGTGCCTGTGGCCGGGCGCAGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGACCACCT... |
Task1_train_23864 | Located on Chromosome 17, this mutation impacts MYO15A (myosin XVA). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not specified | TGAATGAAAGGCTGGGTCATATGTGACCCTTGTGAGCAGCTGTTTCCGTGGACTGCTCCTGGGTCCCCTCCTCCACCCGCCCTGCCTCTCCCATTTCATCCTAGGAGGTGCCTGTGGCCGGGCGCAGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGACCACCTGAGGTCAGGAATTTGAGACTAGCCGGCCCAACATGGCGAAACCCCATCTCTACTAAACATACAAAAAATTAGCCAGGCGTCGTGGCGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAA... | TGAATGAAAGGCTGGGTCATATGTGACCCTTGTGAGCAGCTGTTTCCGTGGACTGCTCCTGGGTCCCCTCCTCCACCCGCCCTGCCTCTCCCATTTCATCCTAGGAGGTGCCTGTGGCCGGGCGCAGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGACCACCTGAGGTCAGGAATTTGAGACTAGCCGGCCCAACATGGCGAAACCCCATCTCTACTAAACATACAAAAAATTAGCCAGGCGTCGTGGCGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAA... |
Task1_train_23865 | An alteration has been detected in MYO15A (myosin XVA) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 3 | TGAATGAAAGGCTGGGTCATATGTGACCCTTGTGAGCAGCTGTTTCCGTGGACTGCTCCTGGGTCCCCTCCTCCACCCGCCCTGCCTCTCCCATTTCATCCTAGGAGGTGCCTGTGGCCGGGCGCAGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGACCACCTGAGGTCAGGAATTTGAGACTAGCCGGCCCAACATGGCGAAACCCCATCTCTACTAAACATACAAAAAATTAGCCAGGCGTCGTGGCGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAA... | TGAATGAAAGGCTGGGTCATATGTGACCCTTGTGAGCAGCTGTTTCCGTGGACTGCTCCTGGGTCCCCTCCTCCACCCGCCCTGCCTCTCCCATTTCATCCTAGGAGGTGCCTGTGGCCGGGCGCAGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGACCACCTGAGGTCAGGAATTTGAGACTAGCCGGCCCAACATGGCGAAACCCCATCTCTACTAAACATACAAAAAATTAGCCAGGCGTCGTGGCGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAA... |
Task1_train_23866 | A variant affecting Chromosome 17, within the gene MYO15A (myosin XVA), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 3 | CAGCCATCCTGTGCAGCTTGACCTCCTGTTCCGGCAGGTGAGGTCCTGTCTCCCCTTTCTGCCTCAGTGAACTCAGCAGGGCTGTGTGGACGCAAAGATGAGCTAGCTGCAAAGCCTGCCTCTGCATGTTGGGATTTGGGGTCCTTGACAGGGGTGAGGATGGGCAGCTGTTTTATTGAATCTCCCCCTCCCATGGGCAGGGTCAGTGAGCCCACAGTTCAACCCAATCAGAGCCATAGTCTGTCTGAGCTAGACATGGCCCAGAGATCAAATGTAAACCCTGTAAACCCCCCTATATAGAGTAGGAAACGGTGGCCTAG... | CAGCCATCCTGTGCAGCTTGACCTCCTGTTCCGGCAGGTGAGGTCCTGTCTCCCCTTTCTGCCTCAGTGAACTCAGCAGGGCTGTGTGGACGCAAAGATGAGCTAGCTGCAAAGCCTGCCTCTGCATGTTGGGATTTGGGGTCCTTGACAGGGGTGAGGATGGGCAGCTGTTTTATTGAATCTCCCCCTCCCATGGGCAGGGTCAGTGAGCCCACAGTTCAACCCAATCAGAGCCATAGTCTGTCTGAGCTAGACATGGCCCAGAGATCAAATGTAAACCCTGTAAACCCCCCTATATAGAGTAGGAAACGGTGGCCTAG... |
Task1_train_23867 | A variant on Chromosome 17 in gene LOC130060418, MYO15A (ATAC-STARR-seq lymphoblastoid active region 11828| myosin XVA) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 3 | TCCCTCATCGAACTCAGCGACAGCAGCCTCAGCAAGATGGCCACCGACATGTTCCTAGGTGTGGGAGTGGGACTGCAGCCAGGGCTCTGGGCTAGGTGGGATCCAGCACTGTGTGATCTCTACTGGTTGCCACTCCTCCCTGATCTTCAGATTCTTTCCCTCCCGCCAGCTCAGACATGGAACACATTTAAGAGAATAGAAGCTCCCAGCTGCCTGTGGCCAAGGCTCCCAGGGAGGGGCTCAGCCCTGGGGCTTCCTGGGGTGGGTGGGCAACTGGGGGTTTGGTGGGTCTGAGTGGGATAGGTCTTTCCTACAGCTGT... | TCCCTCATCGAACTCAGCGACAGCAGCCTCAGCAAGATGGCCACCGACATGTTCCTAGGTGTGGGAGTGGGACTGCAGCCAGGGCTCTGGGCTAGGTGGGATCCAGCACTGTGTGATCTCTACTGGTTGCCACTCCTCCCTGATCTTCAGATTCTTTCCCTCCCGCCAGCTCAGACATGGAACACATTTAAGAGAATAGAAGCTCCCAGCTGCCTGTGGCCAAGGCTCCCAGGGAGGGGCTCAGCCCTGGGGCTTCCTGGGGTGGGTGGGCAACTGGGGGTTTGGTGGGTCTGAGTGGGATAGGTCTTTCCTACAGCTGT... |
Task1_train_23868 | A sequence alteration has been identified in MYO15A (myosin XVA) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 3 | CCTATCCCTGGGCCAATCACTGTGGCCAGGGGCTGCGGTGTTCACATTGACCAAACCTGACTTCCATGCCCATCTCCAAACCACAGGGATCCAGAGCGGGGTGGGTGGTTTCCCAAAGGAAGCCCAAGTGTTGTTCCCAGACACCAGATATCCCTACAAATGAAACCCTCACACCCAGGACCATGTGAAGATGAATTACTGTGTTCCACTCATGCAGGGCCAGCACACAGTACGTGCCCAATGTGTGCATGCTCTTGTTACCATCAGGTCCACCCTCCTGTCTCCATCTGTACTACCTCCTCACTTGCTCTCCATCTCCT... | CCTATCCCTGGGCCAATCACTGTGGCCAGGGGCTGCGGTGTTCACATTGACCAAACCTGACTTCCATGCCCATCTCCAAACCACAGGGATCCAGAGCGGGGTGGGTGGTTTCCCAAAGGAAGCCCAAGTGTTGTTCCCAGACACCAGATATCCCTACAAATGAAACCCTCACACCCAGGACCATGTGAAGATGAATTACTGTGTTCCACTCATGCAGGGCCAGCACACAGTACGTGCCCAATGTGTGCATGCTCTTGTTACCATCAGGTCCACCCTCCTGTCTCCATCTGTACTACCTCCTCACTTGCTCTCCATCTCCT... |
Task1_train_23869 | This sequence variant lies in TOP3A (DNA topoisomerase III alpha) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | TCTAACAAGGGGTGAGATGGGGGCTACGCGCTAATAATTTACAATACTTAGGATTATTTTTTGATAGGGTCTCACTTTCTCACCAGGCTGGAGTGTGGTGGTGTGATTACGGCTCACTGCAGCCTCAACCTCCTGCCTCCTGGGATCAAGTAATCCTCCTTCCTCAGCCTTACTAGTAGCTGGGACTATAGGCATACATCACCATGCCTGGTTAAATTTTTTTTTTTTTTTGAGAGATAGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAATTCCTGGAGTTCATGTGATCCTGCCTTGGCCCCACAAATTGCTGGGAT... | TCTAACAAGGGGTGAGATGGGGGCTACGCGCTAATAATTTACAATACTTAGGATTATTTTTTGATAGGGTCTCACTTTCTCACCAGGCTGGAGTGTGGTGGTGTGATTACGGCTCACTGCAGCCTCAACCTCCTGCCTCCTGGGATCAAGTAATCCTCCTTCCTCAGCCTTACTAGTAGCTGGGACTATAGGCATACATCACCATGCCTGGTTAAATTTTTTTTTTTTTTTGAGAGATAGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAATTCCTGGAGTTCATGTGATCCTGCCTTGGCCCCACAAATTGCTGGGAT... |
Task1_train_23870 | This variant impacts the gene B9D1 (B9 domain containing 1) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Familial aplasia of the vermis | ACAGCTGGCTGTCACCAGGGTGGAGACCTTGCCAGGTGAGCATAAACGAAGGATGGAGGGCACTATGGGAAGTGCATGCAGATGACCAAGAGTTCTAAACTGGGCTGGGAGGAAAGCAAGGAAAGAGGGGCTGATGGTTGGCGAAAAGGGGCTGGGCCAGGAGCTTGGAGGGCCTGGTGGTTTGAAGAGCACAGGGAAGCGCCACATGAGGGAGGGCCTGGCCTGAGGGAGGGATGCCTCAATCCAGACTTTGGAGGCAGTGCCTTCACCAGTAACAAGAGATATGCCTGCCTGGCTGTGAGGGGTAGAGGTGAAGACAG... | ACAGCTGGCTGTCACCAGGGTGGAGACCTTGCCAGGTGAGCATAAACGAAGGATGGAGGGCACTATGGGAAGTGCATGCAGATGACCAAGAGTTCTAAACTGGGCTGGGAGGAAAGCAAGGAAAGAGGGGCTGATGGTTGGCGAAAAGGGGCTGGGCCAGGAGCTTGGAGGGCCTGGTGGTTTGAAGAGCACAGGGAAGCGCCACATGAGGGAGGGCCTGGCCTGAGGGAGGGATGCCTCAATCCAGACTTTGGAGGCAGTGCCTTCACCAGTAACAAGAGATATGCCTGCCTGGCTGTGAGGGGTAGAGGTGAAGACAG... |
Task1_train_23871 | A genetic alteration is present in B9D1 (B9 domain containing 1) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Joubert syndrome 27 | ACAGCTGGCTGTCACCAGGGTGGAGACCTTGCCAGGTGAGCATAAACGAAGGATGGAGGGCACTATGGGAAGTGCATGCAGATGACCAAGAGTTCTAAACTGGGCTGGGAGGAAAGCAAGGAAAGAGGGGCTGATGGTTGGCGAAAAGGGGCTGGGCCAGGAGCTTGGAGGGCCTGGTGGTTTGAAGAGCACAGGGAAGCGCCACATGAGGGAGGGCCTGGCCTGAGGGAGGGATGCCTCAATCCAGACTTTGGAGGCAGTGCCTTCACCAGTAACAAGAGATATGCCTGCCTGGCTGTGAGGGGTAGAGGTGAAGACAG... | ACAGCTGGCTGTCACCAGGGTGGAGACCTTGCCAGGTGAGCATAAACGAAGGATGGAGGGCACTATGGGAAGTGCATGCAGATGACCAAGAGTTCTAAACTGGGCTGGGAGGAAAGCAAGGAAAGAGGGGCTGATGGTTGGCGAAAAGGGGCTGGGCCAGGAGCTTGGAGGGCCTGGTGGTTTGAAGAGCACAGGGAAGCGCCACATGAGGGAGGGCCTGGCCTGAGGGAGGGATGCCTCAATCCAGACTTTGGAGGCAGTGCCTTCACCAGTAACAAGAGATATGCCTGCCTGGCTGTGAGGGGTAGAGGTGAAGACAG... |
Task1_train_23872 | Here is a variant affecting MAPK7 (mitogen-activated protein kinase 7) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Scoliosis, isolated, susceptibility to, 1 | TGACGTGGGCGACGAGTACGAGATCATCGAGACCATAGGCAACGGGGCCTATGGAGTGGTGTCCTCCGCCCGCCGCCGCCTCACCGGTGAGCTTCCTGAGCCGTCGCCTCCCAGATGTGGCAGCGTCGCAGGGAGTGGGAAACCGGCCTGTCCCAGACAGCCGGGAAGGAAAGCGGGGTGCGAGTTCTGGCTCCAGTCAACACACACTGACCAGGGCCTTCTGCCTGCCAGGCTCCGGGGAGGCTCGGTTCTCTGAAACTCCGGCCTGGTGGTTTTGCCATCCTGCCTGCCTACTTCCTCCTTAGGAAAATGATAGTCCC... | TGACGTGGGCGACGAGTACGAGATCATCGAGACCATAGGCAACGGGGCCTATGGAGTGGTGTCCTCCGCCCGCCGCCGCCTCACCGGTGAGCTTCCTGAGCCGTCGCCTCCCAGATGTGGCAGCGTCGCAGGGAGTGGGAAACCGGCCTGTCCCAGACAGCCGGGAAGGAAAGCGGGGTGCGAGTTCTGGCTCCAGTCAACACACACTGACCAGGGCCTTCTGCCTGCCAGGCTCCGGGGAGGCTCGGTTCTCTGAAACTCCGGCCTGGTGGTTTTGCCATCCTGCCTGCCTACTTCCTCCTTAGGAAAATGATAGTCCC... |
Task1_train_23873 | A genetic alteration is present in MAPK7 (mitogen-activated protein kinase 7) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Scoliosis, isolated, susceptibility to, 1 | AGTTCTGGAAAGGCAGCTGAATCTAATCTGAAGCAGGCTGGGAAAATTCCCGCAGTTCTAGGACCAGTTCTTTAGAGTTTTGCCAGGGACAACTGTTATTCCTCAAGAAGTGTACAGATGATTTTACAGTTTTATAGAATCTTAGTATATAGGATGTCAAATGTAGGACATTCCTACTATGACCACACCCTCCTATTCCCATAGCAGACTTCACTAATCAATCACAGAACACTTTCCTACAGACAGTGGACAAGCCTGGTCAATTTTCATCATAGTTCTTCAAGCTGCCACTACCAAACAATGGAGATAGCCCCAAAAGG... | AGTTCTGGAAAGGCAGCTGAATCTAATCTGAAGCAGGCTGGGAAAATTCCCGCAGTTCTAGGACCAGTTCTTTAGAGTTTTGCCAGGGACAACTGTTATTCCTCAAGAAGTGTACAGATGATTTTACAGTTTTATAGAATCTTAGTATATAGGATGTCAAATGTAGGACATTCCTACTATGACCACACCCTCCTATTCCCATAGCAGACTTCACTAATCAATCACAGAACACTTTCCTACAGACAGTGGACAAGCCTGGTCAATTTTCATCATAGTTCTTCAAGCTGCCACTACCAAACAATGGAGATAGCCCCAAAAGG... |
Task1_train_23874 | A mutation in MAPK7 (mitogen-activated protein kinase 7), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Scoliosis, isolated, susceptibility to, 1 | CACACCCTCCTATTCCCATAGCAGACTTCACTAATCAATCACAGAACACTTTCCTACAGACAGTGGACAAGCCTGGTCAATTTTCATCATAGTTCTTCAAGCTGCCACTACCAAACAATGGAGATAGCCCCAAAAGGAAACCTATTGGCCAGCCCTGGTGTAGTCCAACCCCATCTTTTATCTGATGGGGAAACTAGGTCTGGAGACAAAAGTGATTTAACCAAGTTCATGGAAAAGTCGTAGAGAATCTAAAACGTGATGCTCTTCTTCCATACCATGCCGTCAGCCCCTATGGGGTCCCAGGGTAAGGCTGTTACCTG... | CACACCCTCCTATTCCCATAGCAGACTTCACTAATCAATCACAGAACACTTTCCTACAGACAGTGGACAAGCCTGGTCAATTTTCATCATAGTTCTTCAAGCTGCCACTACCAAACAATGGAGATAGCCCCAAAAGGAAACCTATTGGCCAGCCCTGGTGTAGTCCAACCCCATCTTTTATCTGATGGGGAAACTAGGTCTGGAGACAAAAGTGATTTAACCAAGTTCATGGAAAAGTCGTAGAGAATCTAAAACGTGATGCTCTTCTTCCATACCATGCCGTCAGCCCCTATGGGGTCCCAGGGTAAGGCTGTTACCTG... |
Task1_train_23875 | Given this variant in gene ALDH3A2 (aldehyde dehydrogenase 3 family member A2) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Sjögren-Larsson syndrome | GGCCCGGCGAGAATTCGAGTGTGGCGCTGGTGGGCTGGCATTGCTGGGGGACCCGGGGCACCCTCCTCAGCAGCTGGCCCAGGTGCTAAGCCCCTCATTGCCCAGGGCTGGCGGCGCCGGCCAGCTGCTCCGAGTGTGGGGCCCATTGAGCCTGCGCCCACCCAGAACTCGCTCTGGCTTGTGAGCGCCACGCGCAGCCCCGGTTCCTGCCTGCGCCTCTCCCTCCACACCTTCCCACAAGCAGAAGGAGCCGGCTCCAGCCTTGGCCAGCCCAGAGAGGGGCTCCCACAGTGCAGCTGTGGGCTGAAGGGCTCCTCAAG... | GGCCCGGCGAGAATTCGAGTGTGGCGCTGGTGGGCTGGCATTGCTGGGGGACCCGGGGCACCCTCCTCAGCAGCTGGCCCAGGTGCTAAGCCCCTCATTGCCCAGGGCTGGCGGCGCCGGCCAGCTGCTCCGAGTGTGGGGCCCATTGAGCCTGCGCCCACCCAGAACTCGCTCTGGCTTGTGAGCGCCACGCGCAGCCCCGGTTCCTGCCTGCGCCTCTCCCTCCACACCTTCCCACAAGCAGAAGGAGCCGGCTCCAGCCTTGGCCAGCCCAGAGAGGGGCTCCCACAGTGCAGCTGTGGGCTGAAGGGCTCCTCAAG... |
Task1_train_23876 | The gene ALDH3A2 (aldehyde dehydrogenase 3 family member A2), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Sjögren-Larsson syndrome | GAATTCGAGTGTGGCGCTGGTGGGCTGGCATTGCTGGGGGACCCGGGGCACCCTCCTCAGCAGCTGGCCCAGGTGCTAAGCCCCTCATTGCCCAGGGCTGGCGGCGCCGGCCAGCTGCTCCGAGTGTGGGGCCCATTGAGCCTGCGCCCACCCAGAACTCGCTCTGGCTTGTGAGCGCCACGCGCAGCCCCGGTTCCTGCCTGCGCCTCTCCCTCCACACCTTCCCACAAGCAGAAGGAGCCGGCTCCAGCCTTGGCCAGCCCAGAGAGGGGCTCCCACAGTGCAGCTGTGGGCTGAAGGGCTCCTCAAGCGTGGCGAGA... | GAATTCGAGTGTGGCGCTGGTGGGCTGGCATTGCTGGGGGACCCGGGGCACCCTCCTCAGCAGCTGGCCCAGGTGCTAAGCCCCTCATTGCCCAGGGCTGGCGGCGCCGGCCAGCTGCTCCGAGTGTGGGGCCCATTGAGCCTGCGCCCACCCAGAACTCGCTCTGGCTTGTGAGCGCCACGCGCAGCCCCGGTTCCTGCCTGCGCCTCTCCCTCCACACCTTCCCACAAGCAGAAGGAGCCGGCTCCAGCCTTGGCCAGCCCAGAGAGGGGCTCCCACAGTGCAGCTGTGGGCTGAAGGGCTCCTCAAGCGTGGCGAGA... |
Task1_train_23877 | Here is a genetic alteration in ALDH3A2 (aldehyde dehydrogenase 3 family member A2) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Sjögren-Larsson syndrome | GCTGTTATTGTCCAAGATGTTCTCTCTTAGAATAGCTGGTAATGATAGCACAATGCATAGATGGGCTCAGTCCACAGAAGCTACGTGAATTCTCCCAGTAACAGATGAGGAAATTGAGGCTCAGAGATGTTCAGTAGCTTGCCTAAGGTTGCATAAGCTAGTGAGTGGCAGAGCCCAGATTCAAACCAGATACACTTCAAAAGCAAGCGCTCTCAGCTACTGTGCCGGATATACCATTCATTCAGAATAGCGTGGGCTAAGCCCACTCTGTGTTGTGAGACAGAGAACATTCAGACTAAGACATGCATGACCTGTCCTGT... | GCTGTTATTGTCCAAGATGTTCTCTCTTAGAATAGCTGGTAATGATAGCACAATGCATAGATGGGCTCAGTCCACAGAAGCTACGTGAATTCTCCCAGTAACAGATGAGGAAATTGAGGCTCAGAGATGTTCAGTAGCTTGCCTAAGGTTGCATAAGCTAGTGAGTGGCAGAGCCCAGATTCAAACCAGATACACTTCAAAAGCAAGCGCTCTCAGCTACTGTGCCGGATATACCATTCATTCAGAATAGCGTGGGCTAAGCCCACTCTGTGTTGTGAGACAGAGAACATTCAGACTAAGACATGCATGACCTGTCCTGT... |
Task1_train_23878 | A mutation in ALDH3A2 (aldehyde dehydrogenase 3 family member A2), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | TAGCTACTTGGGAGGCTGAGGCACAAGAATTGCTTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCAAGATCATGCTACTGCACTCCAGCCTGGGTAACGGAATGAGATTTTATCTCAAAAGAAAAAAAGATATGAAAATTGTCGCCGTTGTGGTGGTTCACTCCTGTAATCCGAGCACTTTGGGAGGCTAAGGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAAACCAGCCTGGTCAACATAATGAGACCCTGTGTCTACAAAAGAAAAAAAGGTTAGCTGGGTATGGTGGCACATGCCTGTAGTCCCAGCTACTCAGGA... | TAGCTACTTGGGAGGCTGAGGCACAAGAATTGCTTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCAAGATCATGCTACTGCACTCCAGCCTGGGTAACGGAATGAGATTTTATCTCAAAAGAAAAAAAGATATGAAAATTGTCGCCGTTGTGGTGGTTCACTCCTGTAATCCGAGCACTTTGGGAGGCTAAGGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAAACCAGCCTGGTCAACATAATGAGACCCTGTGTCTACAAAAGAAAAAAAGGTTAGCTGGGTATGGTGGCACATGCCTGTAGTCCCAGCTACTCAGGA... |
Task1_train_23879 | This variant affects gene ALDH3A2 (aldehyde dehydrogenase 3 family member A2) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Sjögren-Larsson syndrome | AACTATTAAATATATAGCATTTAATTGTTAAAGTACTAAATCCTGCTTTCTGGTATACTGTACCTGTAGCTTTTGTTATAAACTATTTAAAATGTCTGTGTTTCTGTGTATTGAATGATGCCACCAGCGTTGCTCCAGTTGTTCATATTTACACATAACTCCTTTTTTCCTCCTAACAATCCTGAGAAGCAGAATAGAACTTGATGTAATTATCTGTAGTTTGTGGATGGGAAAACAGCACAAAGAAGGAAATAGCTTGGCCACTATTCCACAATTAACCAGTGACGGTACCATTCCAGAAATAATGTTTTGGTCCATCA... | AACTATTAAATATATAGCATTTAATTGTTAAAGTACTAAATCCTGCTTTCTGGTATACTGTACCTGTAGCTTTTGTTATAAACTATTTAAAATGTCTGTGTTTCTGTGTATTGAATGATGCCACCAGCGTTGCTCCAGTTGTTCATATTTACACATAACTCCTTTTTTCCTCCTAACAATCCTGAGAAGCAGAATAGAACTTGATGTAATTATCTGTAGTTTGTGGATGGGAAAACAGCACAAAGAAGGAAATAGCTTGGCCACTATTCCACAATTAACCAGTGACGGTACCATTCCAGAAATAATGTTTTGGTCCATCA... |
Task1_train_23880 | Located on Chromosome 17, this mutation impacts ALDH3A2 (aldehyde dehydrogenase 3 family member A2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not specified | AAACTCCATCTCAAAAAAAAAACCTGTCCACAGAAAAATGTTAAGTATAATCTACAGTTAAATACATGCATGGCTGTGAACAGGGTTCAATGTGAAAAAGATATATTTGAGTGTGTATCGTTCCCTTGGTTTGCACAAGTATCCGCAGGGTTGTGATTCACAGGCTTTGGAGACATTGAGTATGTGCACAGTTCATCCACGTGCTCAGGATTTTTCAATAGATATGACTTGGGTGGGAGAGGGAAAGGCATGGATAAGTGACCCAATGAAAGAGATGTAATATGAGAGTTGTGCATTTTTGTCTAATAAGCATTTTCATT... | AAACTCCATCTCAAAAAAAAAACCTGTCCACAGAAAAATGTTAAGTATAATCTACAGTTAAATACATGCATGGCTGTGAACAGGGTTCAATGTGAAAAAGATATATTTGAGTGTGTATCGTTCCCTTGGTTTGCACAAGTATCCGCAGGGTTGTGATTCACAGGCTTTGGAGACATTGAGTATGTGCACAGTTCATCCACGTGCTCAGGATTTTTCAATAGATATGACTTGGGTGGGAGAGGGAAAGGCATGGATAAGTGACCCAATGAAAGAGATGTAATATGAGAGTTGTGCATTTTTGTCTAATAAGCATTTTCATT... |
Task1_train_23881 | This is a variant in VMA12 (vacuolar ATPase assembly factor VMA12), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; TMEM199-CDG | GATTCTGGAATGGCACCAAACATCAAGGTGGAATGAATGGAACACCATACCATGCAGGCCTGTGACCTAATCTGACTTTTTTCAGAAGCAGAGCACTCTATGAAAATGAAAGATGACCCAGCCCAATACTCACCTGCCCGGTCTCATATTTTCCATTCTGTTTTGGCACCTCAAACACACCAACTGTCTCCAACACTTTGCCCTCTGGTCGGTTTCTGAGTAGGAAGGAAAAGAACAAGCAACAGAAAAGCTGAGAAGGTAATGGTAGTTATCCATAAGAAAAAGCTCCTAGGATACTGAGGGGCCAGGGCGATGACAGC... | GATTCTGGAATGGCACCAAACATCAAGGTGGAATGAATGGAACACCATACCATGCAGGCCTGTGACCTAATCTGACTTTTTTCAGAAGCAGAGCACTCTATGAAAATGAAAGATGACCCAGCCCAATACTCACCTGCCCGGTCTCATATTTTCCATTCTGTTTTGGCACCTCAAACACACCAACTGTCTCCAACACTTTGCCCTCTGGTCGGTTTCTGAGTAGGAAGGAAAAGAACAAGCAACAGAAAAGCTGAGAAGGTAATGGTAGTTATCCATAAGAAAAAGCTCCTAGGATACTGAGGGGCCAGGGCGATGACAGC... |
Task1_train_23882 | A variant affecting Chromosome 17, within the gene VMA12 (vacuolar ATPase assembly factor VMA12), has been observed. Determine if it's benign or associated with disease. | Pathogenic; TMEM199-related disorder | TGCAGGCCTGTGACCTAATCTGACTTTTTTCAGAAGCAGAGCACTCTATGAAAATGAAAGATGACCCAGCCCAATACTCACCTGCCCGGTCTCATATTTTCCATTCTGTTTTGGCACCTCAAACACACCAACTGTCTCCAACACTTTGCCCTCTGGTCGGTTTCTGAGTAGGAAGGAAAAGAACAAGCAACAGAAAAGCTGAGAAGGTAATGGTAGTTATCCATAAGAAAAAGCTCCTAGGATACTGAGGGGCCAGGGCGATGACAGCAGAGAAGGGTTTGGGGTAGTGGGACCAGCTGGAGCAGGAAAGGCTTTCCTCC... | TGCAGGCCTGTGACCTAATCTGACTTTTTTCAGAAGCAGAGCACTCTATGAAAATGAAAGATGACCCAGCCCAATACTCACCTGCCCGGTCTCATATTTTCCATTCTGTTTTGGCACCTCAAACACACCAACTGTCTCCAACACTTTGCCCTCTGGTCGGTTTCTGAGTAGGAAGGAAAAGAACAAGCAACAGAAAAGCTGAGAAGGTAATGGTAGTTATCCATAAGAAAAAGCTCCTAGGATACTGAGGGGCCAGGGCGATGACAGCAGAGAAGGGTTTGGGGTAGTGGGACCAGCTGGAGCAGGAAAGGCTTTCCTCC... |
Task1_train_23883 | This variant lies on Chromosome 17 and affects the gene SLC46A1, SARM1 (solute carrier family 46 member 1| sterile alpha and TIR motif containing 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Congenital defect of folate absorption | GTCAGCGGGTCAAGCTAGCCTGTGGCCCAGCCACAACTAGCTGACAAAGCTTCCTGGCCTTCCCTTTAACACAGTTCTGCTGCCATAGTTCCATCTATAAAATGGGAATGGAGGGAAATAGGGGAACTGGGAGAGAGAACACAGCCTTGCCAAGCAGCAATGTTAGCCTGATCCTTCCTCCACCTAGCTCGCCATCTCGCCCTTGGAAAATGGCTCCTGGAGGATTAGGCAGCCATCTGCAAGGAGAGGGGCAACCTGGGACAAGACACCCAGAGGGTAAGGATTCCAGGAATGAAGCTGCCATTTCTGGTTGGGAGGAG... | GTCAGCGGGTCAAGCTAGCCTGTGGCCCAGCCACAACTAGCTGACAAAGCTTCCTGGCCTTCCCTTTAACACAGTTCTGCTGCCATAGTTCCATCTATAAAATGGGAATGGAGGGAAATAGGGGAACTGGGAGAGAGAACACAGCCTTGCCAAGCAGCAATGTTAGCCTGATCCTTCCTCCACCTAGCTCGCCATCTCGCCCTTGGAAAATGGCTCCTGGAGGATTAGGCAGCCATCTGCAAGGAGAGGGGCAACCTGGGACAAGACACCCAGAGGGTAAGGATTCCAGGAATGAAGCTGCCATTTCTGGTTGGGAGGAG... |
Task1_train_23884 | A mutation in SLC46A1 (solute carrier family 46 member 1), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Congenital defect of folate absorption | AAGCATGGGCTTTGGAGTCAGCCCTGAGTTCAAAACCTGATGCCATTACATATTATCTGTGTGGCCTGGGGTACTTACCCTCTCTGATCCTGACTCCCTGTATGAGGAAGATAATAAGGCCTTCATCACAGGATGGTTCTGAGGCATAGGAGGCTGAATAATGGTGCCCAATGGCATCAGATTCATAGCCCTGGAACCTGTAAATACTACCTTATTTGGAAAATGAGTCTATGCAGGTGTGCAGTTAAGCCTCCTGAGAGAGCAGAGTTATCCTGGATTAGGTTGGGCCCTAAATGCCGTCACACATATCTTTATAAGAG... | AAGCATGGGCTTTGGAGTCAGCCCTGAGTTCAAAACCTGATGCCATTACATATTATCTGTGTGGCCTGGGGTACTTACCCTCTCTGATCCTGACTCCCTGTATGAGGAAGATAATAAGGCCTTCATCACAGGATGGTTCTGAGGCATAGGAGGCTGAATAATGGTGCCCAATGGCATCAGATTCATAGCCCTGGAACCTGTAAATACTACCTTATTTGGAAAATGAGTCTATGCAGGTGTGCAGTTAAGCCTCCTGAGAGAGCAGAGTTATCCTGGATTAGGTTGGGCCCTAAATGCCGTCACACATATCTTTATAAGAG... |
Task1_train_23885 | This gene mutation involves SLC46A1 (solute carrier family 46 member 1) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Congenital defect of folate absorption | GTGTGGCCTGGGGTACTTACCCTCTCTGATCCTGACTCCCTGTATGAGGAAGATAATAAGGCCTTCATCACAGGATGGTTCTGAGGCATAGGAGGCTGAATAATGGTGCCCAATGGCATCAGATTCATAGCCCTGGAACCTGTAAATACTACCTTATTTGGAAAATGAGTCTATGCAGGTGTGCAGTTAAGCCTCCTGAGAGAGCAGAGTTATCCTGGATTAGGTTGGGCCCTAAATGCCGTCACACATATCTTTATAAGAGGAAAGCAGACGGAGATTTGGCACCGACAGAATTGAGAAGGCACAAAGAGGAGGAGAGT... | GTGTGGCCTGGGGTACTTACCCTCTCTGATCCTGACTCCCTGTATGAGGAAGATAATAAGGCCTTCATCACAGGATGGTTCTGAGGCATAGGAGGCTGAATAATGGTGCCCAATGGCATCAGATTCATAGCCCTGGAACCTGTAAATACTACCTTATTTGGAAAATGAGTCTATGCAGGTGTGCAGTTAAGCCTCCTGAGAGAGCAGAGTTATCCTGGATTAGGTTGGGCCCTAAATGCCGTCACACATATCTTTATAAGAGGAAAGCAGACGGAGATTTGGCACCGACAGAATTGAGAAGGCACAAAGAGGAGGAGAGT... |
Task1_train_23886 | Mutation context: Chromosome 17, Gene SLC46A1 (solute carrier family 46 member 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Congenital defect of folate absorption | AGGGACACAGCAAATGGGAGTTCCTTTTCCCTTTGCATTCAGTTACTTACAGGCTTCCTGTTTTCTTCATAACCATTTCTCTCCCTGTGCGACTGCTGACTCCTCAGCAAAACTGCAAACTCCTACAGGACAGTGGATCCTCCAAAGAAGGTATACGATGAGGCATCCAGGGACCCTAGCAGTGTCAGGCCCCTCAAATCCCACTCTGTTGAGACCTCCCCCCGACCCAGAGCAATGACAGCATCTTTATCATCTCTGCATCCCCCAGGGCCATCAGCAGGAGGGAAAGGTTCCCTTCTGCTTAATTGTCAGACAAGCAG... | AGGGACACAGCAAATGGGAGTTCCTTTTCCCTTTGCATTCAGTTACTTACAGGCTTCCTGTTTTCTTCATAACCATTTCTCTCCCTGTGCGACTGCTGACTCCTCAGCAAAACTGCAAACTCCTACAGGACAGTGGATCCTCCAAAGAAGGTATACGATGAGGCATCCAGGGACCCTAGCAGTGTCAGGCCCCTCAAATCCCACTCTGTTGAGACCTCCCCCCGACCCAGAGCAATGACAGCATCTTTATCATCTCTGCATCCCCCAGGGCCATCAGCAGGAGGGAAAGGTTCCCTTCTGCTTAATTGTCAGACAAGCAG... |
Task1_train_23887 | A variant on Chromosome 17 in gene SLC46A1 (solute carrier family 46 member 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Congenital defect of folate absorption | AGGGACACAGCAAATGGGAGTTCCTTTTCCCTTTGCATTCAGTTACTTACAGGCTTCCTGTTTTCTTCATAACCATTTCTCTCCCTGTGCGACTGCTGACTCCTCAGCAAAACTGCAAACTCCTACAGGACAGTGGATCCTCCAAAGAAGGTATACGATGAGGCATCCAGGGACCCTAGCAGTGTCAGGCCCCTCAAATCCCACTCTGTTGAGACCTCCCCCCGACCCAGAGCAATGACAGCATCTTTATCATCTCTGCATCCCCCAGGGCCATCAGCAGGAGGGAAAGGTTCCCTTCTGCTTAATTGTCAGACAAGCAG... | AGGGACACAGCAAATGGGAGTTCCTTTTCCCTTTGCATTCAGTTACTTACAGGCTTCCTGTTTTCTTCATAACCATTTCTCTCCCTGTGCGACTGCTGACTCCTCAGCAAAACTGCAAACTCCTACAGGACAGTGGATCCTCCAAAGAAGGTATACGATGAGGCATCCAGGGACCCTAGCAGTGTCAGGCCCCTCAAATCCCACTCTGTTGAGACCTCCCCCCGACCCAGAGCAATGACAGCATCTTTATCATCTCTGCATCCCCCAGGGCCATCAGCAGGAGGGAAAGGTTCCCTTCTGCTTAATTGTCAGACAAGCAG... |
Task1_train_23888 | The gene PIGS (phosphatidylinositol glycan anchor biosynthesis class S) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Glycosylphosphatidylinositol biosynthesis defect 18 | CACTCTGGCCCTCTCTGGCTACTCCAGTCCCAAGCTGCAGAATCCATCCCCTGCCTGCTTACCTCAGATGCCACGTCGTCCTTAATGACAATGTTGCTGATCTTGCCCAGAAGCTGCGCCAGGGAGGTAAGGGTGGTGGTGGCTGTGGCCAGGTTCTCCACTGACCGAGCCCAGAGCAGCCGGTCTAGCTCCCAGGTCATTAGCCCTTCACTCGTAGGCCCTGAAAGCAGGCATTTTGGAGGCAGCTGGGGCTGAGCAATCCCAAAGAGCAACCTGTAGGAACATCGGAGTAAGATCAAGGTGGCTGAGACCACAAGGCG... | CACTCTGGCCCTCTCTGGCTACTCCAGTCCCAAGCTGCAGAATCCATCCCCTGCCTGCTTACCTCAGATGCCACGTCGTCCTTAATGACAATGTTGCTGATCTTGCCCAGAAGCTGCGCCAGGGAGGTAAGGGTGGTGGTGGCTGTGGCCAGGTTCTCCACTGACCGAGCCCAGAGCAGCCGGTCTAGCTCCCAGGTCATTAGCCCTTCACTCGTAGGCCCTGAAAGCAGGCATTTTGGAGGCAGCTGGGGCTGAGCAATCCCAAAGAGCAACCTGTAGGAACATCGGAGTAAGATCAAGGTGGCTGAGACCACAAGGCG... |
Task1_train_23889 | A change on Chromosome 17 affects gene PIGS (phosphatidylinositol glycan anchor biosynthesis class S). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Glycosylphosphatidylinositol biosynthesis defect 18 | ATGACAATGTTGCTGATCTTGCCCAGAAGCTGCGCCAGGGAGGTAAGGGTGGTGGTGGCTGTGGCCAGGTTCTCCACTGACCGAGCCCAGAGCAGCCGGTCTAGCTCCCAGGTCATTAGCCCTTCACTCGTAGGCCCTGAAAGCAGGCATTTTGGAGGCAGCTGGGGCTGAGCAATCCCAAAGAGCAACCTGTAGGAACATCGGAGTAAGATCAAGGTGGCTGAGACCACAAGGCGGGAGATCATGGCTAAGATTTCTCAAATATCTGTCCTGAGCCAGTGATTTTCAATCTTACCCAGAACCATAGGGGTTAAAGGGAA... | ATGACAATGTTGCTGATCTTGCCCAGAAGCTGCGCCAGGGAGGTAAGGGTGGTGGTGGCTGTGGCCAGGTTCTCCACTGACCGAGCCCAGAGCAGCCGGTCTAGCTCCCAGGTCATTAGCCCTTCACTCGTAGGCCCTGAAAGCAGGCATTTTGGAGGCAGCTGGGGCTGAGCAATCCCAAAGAGCAACCTGTAGGAACATCGGAGTAAGATCAAGGTGGCTGAGACCACAAGGCGGGAGATCATGGCTAAGATTTCTCAAATATCTGTCCTGAGCCAGTGATTTTCAATCTTACCCAGAACCATAGGGGTTAAAGGGAA... |
Task1_train_23890 | The gene PIGS (phosphatidylinositol glycan anchor biosynthesis class S) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Glycosylphosphatidylinositol biosynthesis defect 18 | CCAGAAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAAATCGTGCCATTGCGCTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAGAAAACCAGAAGTTTGTGTGTGTACAGAGGCTGAACCATACGAAATATCATTTTTTTAAAAAAATGTTTTAACCAGCCGGGTGCGGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGATCACTTGAGCCCAGGAGCTCGAGACCAGCCTGGGCAACATGGCGAAACCCTATCTCTACTAAAAATACCAAAACAAA... | CCAGAAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAAATCGTGCCATTGCGCTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAGAAAACCAGAAGTTTGTGTGTGTACAGAGGCTGAACCATACGAAATATCATTTTTTTAAAAAAATGTTTTAACCAGCCGGGTGCGGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGATCACTTGAGCCCAGGAGCTCGAGACCAGCCTGGGCAACATGGCGAAACCCTATCTCTACTAAAAATACCAAAACAAA... |
Task1_train_23891 | This alteration occurs within gene NEK8 (NIMA related kinase 8) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Renal-hepatic-pancreatic dysplasia 2 | TTGGGTGGAGATGGGGTTTCACCATTTTGGCCAGGTTGTTCTCAAATTCCTGACCTCAAATGCTCCACCCACCTCGGCCTCCCAAAGTGTTAGTATTACAAGTGTGAGCCATTTCGCCCGGCCTAGGCTGATTTTCAAGTGTCTGTTTTTTTGTTGTTTTGTTTTGAGACCATCTCACTTGGTCACCCAGGCTGGAGTGCAGTGGCGCAATCATGGCTAACTGTATCTTCAATGTCCTAGGCTCAGGTGATCCTCCCACCTCATCCTCCAGAGCAGCTGGGACCACAGAGGCTTGCCACCATGCTCAGCTAATTTTTTTT... | TTGGGTGGAGATGGGGTTTCACCATTTTGGCCAGGTTGTTCTCAAATTCCTGACCTCAAATGCTCCACCCACCTCGGCCTCCCAAAGTGTTAGTATTACAAGTGTGAGCCATTTCGCCCGGCCTAGGCTGATTTTCAAGTGTCTGTTTTTTTGTTGTTTTGTTTTGAGACCATCTCACTTGGTCACCCAGGCTGGAGTGCAGTGGCGCAATCATGGCTAACTGTATCTTCAATGTCCTAGGCTCAGGTGATCCTCCCACCTCATCCTCCAGAGCAGCTGGGACCACAGAGGCTTGCCACCATGCTCAGCTAATTTTTTTT... |
Task1_train_23892 | Mutation context: Chromosome 17, Gene NEK8 (NIMA related kinase 8). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Nephronophthisis 9 | CTTTGTCAGATGAGTAGATTGCAAAAATCTTCTCCCATTCTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTAGACATGAAGTCCTTGCCCATGCCTATGTCCTGAATGGTATTGCCTAGGTATTCTTCTAGGGGTTTGATGGTTTTAGGTCTAACATGTAAGTCTTTAGTCCATCTTGAATTAATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCT... | CTTTGTCAGATGAGTAGATTGCAAAAATCTTCTCCCATTCTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTAGACATGAAGTCCTTGCCCATGCCTATGTCCTGAATGGTATTGCCTAGGTATTCTTCTAGGGGTTTGATGGTTTTAGGTCTAACATGTAAGTCTTTAGTCCATCTTGAATTAATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCT... |
Task1_train_23893 | This mutation occurs in NEK8 (NIMA related kinase 8) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Renal-hepatic-pancreatic dysplasia 2 | TGGCTCCAGACCCTTTGCCCAGTTTCTCCTTGCTTCCTCTCCTCTCTAGCCCACCATTGTGGAGGCTTTGCTGGGCTATGAAATGGTGCAGGTGGCCTGTGGGGCCTCTCACGTGCTGGCCCTGTCCACTGAGCGAGAACTATTTGCCTGGGGCCGTGGAGACAGCGGTAAGCTCCAGCCTTTAGGCCCCATCTCACAGCATCCTCAGCCATGACTTGCTCCCCTTCATACCCACCTTCCACCTCACAGCACATTCTCTCTTCCCTCTTTTCTCTCAAATTCTCTTCATTCATTCAACAAACCTTTATTTTACACCGACT... | TGGCTCCAGACCCTTTGCCCAGTTTCTCCTTGCTTCCTCTCCTCTCTAGCCCACCATTGTGGAGGCTTTGCTGGGCTATGAAATGGTGCAGGTGGCCTGTGGGGCCTCTCACGTGCTGGCCCTGTCCACTGAGCGAGAACTATTTGCCTGGGGCCGTGGAGACAGCGGTAAGCTCCAGCCTTTAGGCCCCATCTCACAGCATCCTCAGCCATGACTTGCTCCCCTTCATACCCACCTTCCACCTCACAGCACATTCTCTCTTCCCTCTTTTCTCTCAAATTCTCTTCATTCATTCAACAAACCTTTATTTTACACCGACT... |
Task1_train_23894 | Consider this mutation in ERAL1, LOC126862526 (Era like 12S mitochondrial rRNA chaperone 1| BRD4-independent group 4 enhancer GRCh37_chr17:27185111-27186310) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Perrault syndrome 6 | TTCTTGCCATGCCTTCAAGGATGGTCTTGGAGGGATCTGGGACCTCACTGAGACTCCTTTGTTCCTGGCAGGTGTTCCCTGTTTCCAGGAAGGTGCATACTACTCGCTGCCAAGCTCTGGGGGTCATCACAGAGAAGGAGACCCAGGTGGTGGGTACCTACAAAGGGAGTCCTTGAAACAGGACAGAGGGTGAAGCTAAGAGGGTCTCCCTTACCATCAGCCTTGAAGAAAATGATGGTCACATTCATTTATGTGAGGAAAGGGGGTTTCTTTTCTTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCTCC... | TTCTTGCCATGCCTTCAAGGATGGTCTTGGAGGGATCTGGGACCTCACTGAGACTCCTTTGTTCCTGGCAGGTGTTCCCTGTTTCCAGGAAGGTGCATACTACTCGCTGCCAAGCTCTGGGGGTCATCACAGAGAAGGAGACCCAGGTGGTGGGTACCTACAAAGGGAGTCCTTGAAACAGGACAGAGGGTGAAGCTAAGAGGGTCTCCCTTACCATCAGCCTTGAAGAAAATGATGGTCACATTCATTTATGTGAGGAAAGGGGGTTTCTTTTCTTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCTCC... |
Task1_train_23895 | This mutation is located in gene TAOK1 (TAO kinase 1) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Developmental delay with or without intellectual impairment or behavioral abnormalities | TTTTACTTTTTTTGATAGCCATGTTTGTCAAGTAGAATGTAGACTTCTCAGTAAATTCACACAATATCATTAAAATATGTCCAGGTAGTCTGCAGTGAGGCATTATTTATCATAGCTACCCTCTTCTCCCTTTTCACAAAAAAAGAACATTCTTATAGTAGTAGGGACCCTGACAAAATAATTTATAGTATAAATACATACTTGATTTTGAAATAATTTGATGAAACAATGTATACATATTTAAAATCCTCTGGGCATTGGATATTTTCATTTTTTTATTTTTTATTTTATTTTTATTATTTTTTGAGACAGAATCTCCC... | TTTTACTTTTTTTGATAGCCATGTTTGTCAAGTAGAATGTAGACTTCTCAGTAAATTCACACAATATCATTAAAATATGTCCAGGTAGTCTGCAGTGAGGCATTATTTATCATAGCTACCCTCTTCTCCCTTTTCACAAAAAAAGAACATTCTTATAGTAGTAGGGACCCTGACAAAATAATTTATAGTATAAATACATACTTGATTTTGAAATAATTTGATGAAACAATGTATACATATTTAAAATCCTCTGGGCATTGGATATTTTCATTTTTTTATTTTTTATTTTATTTTTATTATTTTTTGAGACAGAATCTCCC... |
Task1_train_23896 | This gene mutation involves LOC111811965, MIR4733HG, NF1 (NF1 (neurofibromin 1) promoter region| MIR4733 host gene| neurofibromin 1) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Neurofibromatosis, type 1 | GGGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACA... | GGGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACA... |
Task1_train_23897 | Gene LOC111811965, MIR4733HG, NF1 (NF1 (neurofibromin 1) promoter region| MIR4733 host gene| neurofibromin 1) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Hereditary cancer-predisposing syndrome | GGGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACA... | GGGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACA... |
Task1_train_23898 | A variant has been detected on Chromosome 17 in LOC111811965, MIR4733HG, NF1 (NF1 (neurofibromin 1) promoter region| MIR4733 host gene| neurofibromin 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Cardiovascular phenotype | GGGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACA... | GGGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACA... |
Task1_train_23899 | Gene LOC111811965, MIR4733HG, NF1 (NF1 (neurofibromin 1) promoter region| MIR4733 host gene| neurofibromin 1), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Neurofibromatosis, type 1 | GGGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACA... | GGGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACA... |
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