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_5800 | Gene AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not specified | CCGTTGCACCTACATTTATGTGTCTGGAGAAGTGGAAACCGATGCCCAAGAAATCATCAAACAAGCCAAATGGCTACACACACTTTCCCAAAGCAACCAAGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTC... | CCGTTGCACCTACATTTATGTGTCTGGAGAAGTGGAAACCGATGCCCAAGAAATCATCAAACAAGCCAAATGGCTACACACACTTTCCCAAAGCAACCAAGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTC... |
Task1_train_5801 | Assess the clinical impact of this variant on gene AGXT (alanine--glyoxylate aminotransferase), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Primary hyperoxaluria, type I | CACCTACATTTATGTGTCTGGAGAAGTGGAAACCGATGCCCAAGAAATCATCAAACAAGCCAAATGGCTACACACACTTTCCCAAAGCAACCAAGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATG... | CACCTACATTTATGTGTCTGGAGAAGTGGAAACCGATGCCCAAGAAATCATCAAACAAGCCAAATGGCTACACACACTTTCCCAAAGCAACCAAGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATG... |
Task1_train_5802 | Consider this mutation in AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Primary hyperoxaluria, type I | ATCATCAAACAAGCCAAATGGCTACACACACTTTCCCAAAGCAACCAAGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTT... | ATCATCAAACAAGCCAAATGGCTACACACACTTTCCCAAAGCAACCAAGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTT... |
Task1_train_5803 | Gene AGXT (alanine--glyoxylate aminotransferase), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Primary hyperoxaluria, type I | ATCAAACAAGCCAAATGGCTACACACACTTTCCCAAAGCAACCAAGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGAT... | ATCAAACAAGCCAAATGGCTACACACACTTTCCCAAAGCAACCAAGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGAT... |
Task1_train_5804 | Given this context: Chromosome 2, gene AGXT (alanine--glyoxylate aminotransferase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Primary hyperoxaluria, type I | AGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTT... | AGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTT... |
Task1_train_5805 | A sequence alteration has been identified in AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2. Is it disease-inducing or harmless? | Pathogenic; Primary hyperoxaluria | AGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTT... | AGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTT... |
Task1_train_5806 | A variant was discovered in gene AGXT (alanine--glyoxylate aminotransferase), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Primary hyperoxaluria, type I | AGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTT... | AGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTT... |
Task1_train_5807 | This is a variant in AGXT (alanine--glyoxylate aminotransferase), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | GACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTT... | GACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTT... |
Task1_train_5808 | Consider this mutation in AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Primary hyperoxaluria, type I | TGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATT... | TGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATT... |
Task1_train_5809 | The gene AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Primary hyperoxaluria, type I | TACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGA... | TACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGA... |
Task1_train_5810 | The gene AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Primary hyperoxaluria, type I | AACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATA... | AACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATA... |
Task1_train_5811 | The gene AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Primary hyperoxaluria, type I | ATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGG... | ATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGG... |
Task1_train_5812 | A change on Chromosome 2 affects gene AGXT (alanine--glyoxylate aminotransferase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Primary hyperoxaluria | ATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGG... | ATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGG... |
Task1_train_5813 | Consider a variant on Chromosome 2 in gene AGXT (alanine--glyoxylate aminotransferase). Determine its clinical classification and disease relevance. | Pathogenic; Primary hyperoxaluria, type I | CCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGA... | CCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGA... |
Task1_train_5814 | This variant lies on Chromosome 2 and affects the gene AGXT (alanine--glyoxylate aminotransferase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Primary hyperoxaluria, type I | TGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGG... | TGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGG... |
Task1_train_5815 | This mutation is located in gene AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Primary hyperoxaluria | GCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGG... | GCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGG... |
Task1_train_5816 | Consider this mutation in AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Primary hyperoxaluria, type I | TGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGA... | TGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGA... |
Task1_train_5817 | This mutation occurs in AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | ACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAA... | ACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAA... |
Task1_train_5818 | A variant affecting Chromosome 2, within the gene AGXT (alanine--glyoxylate aminotransferase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Primary hyperoxaluria, type I | AAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGG... | AAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGG... |
Task1_train_5819 | This mutation is located in gene AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Primary hyperoxaluria, type I | GAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCC... | GAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCC... |
Task1_train_5820 | The following genetic variant occurs in AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Primary hyperoxaluria, type I | CAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCC... | CAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCC... |
Task1_train_5821 | Here is a mutation in AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Primary hyperoxaluria, type I | CCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATG... | CCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATG... |
Task1_train_5822 | Located on Chromosome 2, this mutation impacts AGXT (alanine--glyoxylate aminotransferase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Primary hyperoxaluria, type I | TGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCT... | TGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCT... |
Task1_train_5823 | A mutation in AGXT (alanine--glyoxylate aminotransferase), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Primary hyperoxaluria, type I | GCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGT... | GCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGT... |
Task1_train_5824 | This alteration in AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Primary hyperoxaluria | GCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGT... | GCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGT... |
Task1_train_5825 | The gene AGXT (alanine--glyoxylate aminotransferase), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Primary hyperoxaluria, type I | GCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCC... | GCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCC... |
Task1_train_5826 | A variant has been detected on Chromosome 2 in AGXT (alanine--glyoxylate aminotransferase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Primary hyperoxaluria, type I | GGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACAC... | GGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACAC... |
Task1_train_5827 | This sequence change occurs on Chromosome 2, altering AGXT (alanine--glyoxylate aminotransferase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hyperoxaluria | GGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACAC... | GGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACAC... |
Task1_train_5828 | This alteration in AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Primary hyperoxaluria | GGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACAC... | GGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACAC... |
Task1_train_5829 | Given this variant in gene AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Primary hyperoxaluria, type I | GGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACAC... | GGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACAC... |
Task1_train_5830 | A variant was discovered in gene AGXT (alanine--glyoxylate aminotransferase), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Primary hyperoxaluria, type I | CATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGG... | CATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGG... |
Task1_train_5831 | A mutation on Chromosome 2 affecting AGXT (alanine--glyoxylate aminotransferase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Primary hyperoxaluria | CATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGG... | CATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGG... |
Task1_train_5832 | A variant was discovered in gene AGXT (alanine--glyoxylate aminotransferase), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Primary hyperoxaluria, type I | CATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGG... | CATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGG... |
Task1_train_5833 | Given this variant in gene AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Primary hyperoxaluria, type I | GCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCC... | GCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCC... |
Task1_train_5834 | Consider a variant on Chromosome 2 in gene AGXT (alanine--glyoxylate aminotransferase). Determine its clinical classification and disease relevance. | Pathogenic; Primary hyperoxaluria, type I | GATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGT... | GATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGT... |
Task1_train_5835 | Gene AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Primary hyperoxaluria, type I | AGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTG... | AGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTG... |
Task1_train_5836 | Consider a variant on Chromosome 2 in gene AGXT (alanine--glyoxylate aminotransferase). Determine its clinical classification and disease relevance. | Pathogenic; Primary hyperoxaluria, type I | GGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCT... | GGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCT... |
Task1_train_5837 | A variant was discovered in gene AGXT (alanine--glyoxylate aminotransferase), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Primary hyperoxaluria, type I | GACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTG... | GACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTG... |
Task1_train_5838 | Here is a genetic alteration in AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Primary hyperoxaluria, type I | CAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAA... | CAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAA... |
Task1_train_5839 | A genetic alteration is present in AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Primary hyperoxaluria, type I | AGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGG... | AGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGG... |
Task1_train_5840 | A variant on Chromosome 2 in gene AGXT (alanine--glyoxylate aminotransferase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Primary hyperoxaluria, type I | GAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGA... | GAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGA... |
Task1_train_5841 | The gene AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Primary hyperoxaluria | GAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGA... | GAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGA... |
Task1_train_5842 | The following genetic variant occurs in AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Primary hyperoxaluria, type I | AGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTT... | AGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTT... |
Task1_train_5843 | A mutation on Chromosome 2 affecting AGXT (alanine--glyoxylate aminotransferase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Primary hyperoxaluria, type I | GACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTC... | GACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTC... |
Task1_train_5844 | A mutation found in AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Primary hyperoxaluria, type I | AGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCG... | AGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCG... |
Task1_train_5845 | Assess the clinical impact of this variant on gene AGXT (alanine--glyoxylate aminotransferase), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Primary hyperoxaluria, type I | AGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCT... | AGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCT... |
Task1_train_5846 | The following genetic variant occurs in AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Primary hyperoxaluria | AGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCT... | AGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCT... |
Task1_train_5847 | This sequence variant lies in AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Primary hyperoxaluria, type I | AGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCAC... | AGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCAC... |
Task1_train_5848 | An alteration has been detected in AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Primary hyperoxaluria, type I | AGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCA... | AGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCA... |
Task1_train_5849 | Consider a variant on Chromosome 2 in gene AGXT (alanine--glyoxylate aminotransferase). Determine its clinical classification and disease relevance. | Pathogenic; Cardiac arrhythmia | CCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGG... | CCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGG... |
Task1_train_5850 | Located on Chromosome 2, this mutation impacts AGXT (alanine--glyoxylate aminotransferase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Primary hyperoxaluria | CCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGG... | CCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGG... |
Task1_train_5851 | Here is a variant affecting AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Primary hyperoxaluria, type I | CGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGG... | CGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGG... |
Task1_train_5852 | This mutation occurs in AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Primary hyperoxaluria, type I | GCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTG... | GCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTG... |
Task1_train_5853 | Located on Chromosome 2, this mutation impacts AGXT (alanine--glyoxylate aminotransferase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Primary hyperoxaluria | TCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGG... | TCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGG... |
Task1_train_5854 | Consider this mutation in AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Primary hyperoxaluria, type I | GAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGA... | GAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGA... |
Task1_train_5855 | This variant affects gene AGXT (alanine--glyoxylate aminotransferase) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Primary hyperoxaluria, type I | GCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAG... | GCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAG... |
Task1_train_5856 | This variant affects gene AGXT (alanine--glyoxylate aminotransferase) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Primary hyperoxaluria, type I | AGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTAT... | AGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTAT... |
Task1_train_5857 | A variant on Chromosome 2 in gene AGXT (alanine--glyoxylate aminotransferase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Primary hyperoxaluria, type I | GGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAG... | GGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAG... |
Task1_train_5858 | A variant was discovered on Chromosome 2, affecting AGXT (alanine--glyoxylate aminotransferase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Primary hyperoxaluria, type I | GCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGC... | GCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGC... |
Task1_train_5859 | The following genetic variant occurs in DTYMK (deoxythymidylate kinase) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Neurodegeneration, childhood-onset, with progressive microcephaly | ACACTGTGGTGACCTCCGGGATACCCCACACCTTTCTCTGAACCTCAACCTTGACAAGTGTCTACGGTAGTCACCCGGCATTCCTGCCACAGCCCTGATGCAGGAGAAACATGATGTGCCAACTGCCCACTCCTGCTTTAAGCCGACCTCAGCCTCGTGACCCCAACCCCGCTGAGTGCCCACTTGCAGGAGTGAGGCACAGCCCACAGCACAGCCAGACCCACCCAGCCCACCAGGTCGAGGTGACTGTCCCTCCAGCTCGCAAGCGGCGAGTCGGAAGCACAGAGGGCAGACCCTGCCCTGCCCACGCTCCTGTGGCT... | ACACTGTGGTGACCTCCGGGATACCCCACACCTTTCTCTGAACCTCAACCTTGACAAGTGTCTACGGTAGTCACCCGGCATTCCTGCCACAGCCCTGATGCAGGAGAAACATGATGTGCCAACTGCCCACTCCTGCTTTAAGCCGACCTCAGCCTCGTGACCCCAACCCCGCTGAGTGCCCACTTGCAGGAGTGAGGCACAGCCCACAGCACAGCCAGACCCACCCAGCCCACCAGGTCGAGGTGACTGTCCCTCCAGCTCGCAAGCGGCGAGTCGGAAGCACAGAGGGCAGACCCTGCCCTGCCCACGCTCCTGTGGCT... |
Task1_train_5860 | The variant affects gene DTYMK (deoxythymidylate kinase), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Neurodegeneration, childhood-onset, with progressive microcephaly | GCTGAGATCGTGCCATTGCACTCCAGCCTGGGTTGGCACCCAGAGCAAGATTCTGTCTCAAAAAAAAAAGAATTTGCTGGCACCGAGAACCCCTGAACGACTACTCCCGGGGCTCCACATCTGGGAGGACCAGACGGAAACGGCAGCAGCTTTGCTGACACAACTGTGCCAGCCACCACGGTGTCATCCTGAGCCACTTCTCCACGCTTCCTAGTGTGCAATTCTGGGATTCTCACCTTCCAGTTCAAAGTCGTGTCTTTCATGAGCTGGTGGAAACACCGGAGCGCCCGCTCCTGGAAAGCCCCGTTCTCATAGCGCTC... | GCTGAGATCGTGCCATTGCACTCCAGCCTGGGTTGGCACCCAGAGCAAGATTCTGTCTCAAAAAAAAAAGAATTTGCTGGCACCGAGAACCCCTGAACGACTACTCCCGGGGCTCCACATCTGGGAGGACCAGACGGAAACGGCAGCAGCTTTGCTGACACAACTGTGCCAGCCACCACGGTGTCATCCTGAGCCACTTCTCCACGCTTCCTAGTGTGCAATTCTGGGATTCTCACCTTCCAGTTCAAAGTCGTGTCTTTCATGAGCTGGTGGAAACACCGGAGCGCCCGCTCCTGGAAAGCCCCGTTCTCATAGCGCTC... |
Task1_train_5861 | This variant impacts the gene DTYMK (deoxythymidylate kinase) on Chromosome 2. Is the change likely to result in a pathogenic outcome? | Pathogenic; Neurodegeneration, childhood-onset, with progressive microcephaly | TGTCTCAAAAAAAAAAGAATTTGCTGGCACCGAGAACCCCTGAACGACTACTCCCGGGGCTCCACATCTGGGAGGACCAGACGGAAACGGCAGCAGCTTTGCTGACACAACTGTGCCAGCCACCACGGTGTCATCCTGAGCCACTTCTCCACGCTTCCTAGTGTGCAATTCTGGGATTCTCACCTTCCAGTTCAAAGTCGTGTCTTTCATGAGCTGGTGGAAACACCGGAGCGCCCGCTCCTGGAAAGCCCCGTTCTCATAGCGCTCATGGCCAAACGCTCCCCGCTTGGCAGCATCCGCCAGCTGTAACTGGAGGAACA... | TGTCTCAAAAAAAAAAGAATTTGCTGGCACCGAGAACCCCTGAACGACTACTCCCGGGGCTCCACATCTGGGAGGACCAGACGGAAACGGCAGCAGCTTTGCTGACACAACTGTGCCAGCCACCACGGTGTCATCCTGAGCCACTTCTCCACGCTTCCTAGTGTGCAATTCTGGGATTCTCACCTTCCAGTTCAAAGTCGTGTCTTTCATGAGCTGGTGGAAACACCGGAGCGCCCGCTCCTGGAAAGCCCCGTTCTCATAGCGCTCATGGCCAAACGCTCCCCGCTTGGCAGCATCCGCCAGCTGTAACTGGAGGAACA... |
Task1_train_5862 | This sequence variant lies in D2HGDH (D-2-hydroxyglutarate dehydrogenase) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; D-2-hydroxyglutaric aciduria 1 | GAGCACGCCTGCACTGGCAGGAAGGTGGGAGCTTCGCGGTGTGAAAACAGGCTGGGCCCCTGTGTCACCTCTGGCGGCCTTGCCCCCATGGCCCCCTCCGTCTTTGTGGGGCTCCCATCGTTAACACTGGACCACCGGGAGGGAGCCCTCCTTTTCATCTTTCCCGTTAGAAGGTAAACATCACAGGAGTGGGAAATTCTGTGCTCATTCTGTGTCTGGAACGCGGCCTGGCCTGCATTCTTGGGGGGTACTCATGTTTGTGTTGAGAACCCTGCCACAGGCGCGTCACAAGTGTGTCCGAGTCGAAAGCTTTGCCATGA... | GAGCACGCCTGCACTGGCAGGAAGGTGGGAGCTTCGCGGTGTGAAAACAGGCTGGGCCCCTGTGTCACCTCTGGCGGCCTTGCCCCCATGGCCCCCTCCGTCTTTGTGGGGCTCCCATCGTTAACACTGGACCACCGGGAGGGAGCCCTCCTTTTCATCTTTCCCGTTAGAAGGTAAACATCACAGGAGTGGGAAATTCTGTGCTCATTCTGTGTCTGGAACGCGGCCTGGCCTGCATTCTTGGGGGGTACTCATGTTTGTGTTGAGAACCCTGCCACAGGCGCGTCACAAGTGTGTCCGAGTCGAAAGCTTTGCCATGA... |
Task1_train_5863 | Chromosome 2 houses a mutation in gene D2HGDH (D-2-hydroxyglutarate dehydrogenase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; D-2-hydroxyglutaric aciduria 1 | TGCACACTGTGCCCAGTGCCCGGCCCACCACCTCCCATGTGGGACCTAGTTTTGGTTTTTTTGAGATGGCTTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGTTGCGATCATAGCTCACTGCAGCCTTGACCTCCTGGACTCAGATGATTCTCCCTCCTCAGCTTCCCAAATAAGATCACTCTCTGGGGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGCAGTGGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTGAAACCCTGTCTCTACTAAAAATACAAAAA... | TGCACACTGTGCCCAGTGCCCGGCCCACCACCTCCCATGTGGGACCTAGTTTTGGTTTTTTTGAGATGGCTTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGTTGCGATCATAGCTCACTGCAGCCTTGACCTCCTGGACTCAGATGATTCTCCCTCCTCAGCTTCCCAAATAAGATCACTCTCTGGGGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGCAGTGGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTGAAACCCTGTCTCTACTAAAAATACAAAAA... |
Task1_train_5864 | This mutation is located in gene D2HGDH (D-2-hydroxyglutarate dehydrogenase) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; D-2-hydroxyglutaric aciduria 1 | GCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAG... | GCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAG... |
Task1_train_5865 | The gene D2HGDH (D-2-hydroxyglutarate dehydrogenase) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; D-2-hydroxyglutaric aciduria 1 | GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG... | GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG... |
Task1_train_5866 | A variant was discovered in gene TRNT1 (tRNA nucleotidyl transferase 1), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | TTTGGATCCTGGATTGCTGGGACTGACCTTCTAGTTTTATCTTTTGTCTTTATTTTATATTCTCCTGTCTTACTTTCTATGAGAGTGCCTTAACTTCATCTCCCAGTCATTGTATAATACTGACAACTTCTGTGGTCTTGTAGAATTTCAAGAGGTCTTTCTTAGTATATTTCTTTGGAAAGCTTCCCGTTCATGTTTCAGATGGAAGATCTTTTATTTCTCTTAGGATATCTACTATAGTTATTTTGACAGTGTCTTTGTTTCCTCCGAGTGTTTTCTTTCAGGTTGGCTTTCCTTGAATTTGGGTGATGCTCTGTATC... | TTTGGATCCTGGATTGCTGGGACTGACCTTCTAGTTTTATCTTTTGTCTTTATTTTATATTCTCCTGTCTTACTTTCTATGAGAGTGCCTTAACTTCATCTCCCAGTCATTGTATAATACTGACAACTTCTGTGGTCTTGTAGAATTTCAAGAGGTCTTTCTTAGTATATTTCTTTGGAAAGCTTCCCGTTCATGTTTCAGATGGAAGATCTTTTATTTCTCTTAGGATATCTACTATAGTTATTTTGACAGTGTCTTTGTTTCCTCCGAGTGTTTTCTTTCAGGTTGGCTTTCCTTGAATTTGGGTGATGCTCTGTATC... |
Task1_train_5867 | An alteration has been detected in TRNT1 (tRNA nucleotidyl transferase 1) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | GCAAAACAAAATACACACCAGTATGATGCTTACTAAGCTTTGTGTAGTTTTCTATCCTGGCTTTTTCCAAGCCTTATTGGATCAAGCATTCATAGTTCTGGCATTTATGGTTGGTTACTTTGCTTCCCAAACGCTTATTTTTGCTTTGATCATATTCCTATGATTTTTTCCTCCAAATTTTGATCTTGCCTTTAGGTTCCCCAGGGACGGTTACAAGTCTCTTCATTAGGAGAAATAACACCAAGATGGATATACCATATTATTTGCTACTTTGTGATCATATTTTTGCCTATTTACATATTTTCTTTTTATCATTTTCT... | GCAAAACAAAATACACACCAGTATGATGCTTACTAAGCTTTGTGTAGTTTTCTATCCTGGCTTTTTCCAAGCCTTATTGGATCAAGCATTCATAGTTCTGGCATTTATGGTTGGTTACTTTGCTTCCCAAACGCTTATTTTTGCTTTGATCATATTCCTATGATTTTTTCCTCCAAATTTTGATCTTGCCTTTAGGTTCCCCAGGGACGGTTACAAGTCTCTTCATTAGGAGAAATAACACCAAGATGGATATACCATATTATTTGCTACTTTGTGATCATATTTTTGCCTATTTACATATTTTCTTTTTATCATTTTCT... |
Task1_train_5868 | An alteration has been detected in TRNT1 (tRNA nucleotidyl transferase 1) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | CTTATTGGATCAAGCATTCATAGTTCTGGCATTTATGGTTGGTTACTTTGCTTCCCAAACGCTTATTTTTGCTTTGATCATATTCCTATGATTTTTTCCTCCAAATTTTGATCTTGCCTTTAGGTTCCCCAGGGACGGTTACAAGTCTCTTCATTAGGAGAAATAACACCAAGATGGATATACCATATTATTTGCTACTTTGTGATCATATTTTTGCCTATTTACATATTTTCTTTTTATCATTTTCTTTTATGTCTTTTTGAATCTGGAGCCTTCGAAATTTGCCATGTATGTCAAGATGGTTCCCTTTTAAAAGTTAC... | CTTATTGGATCAAGCATTCATAGTTCTGGCATTTATGGTTGGTTACTTTGCTTCCCAAACGCTTATTTTTGCTTTGATCATATTCCTATGATTTTTTCCTCCAAATTTTGATCTTGCCTTTAGGTTCCCCAGGGACGGTTACAAGTCTCTTCATTAGGAGAAATAACACCAAGATGGATATACCATATTATTTGCTACTTTGTGATCATATTTTTGCCTATTTACATATTTTCTTTTTATCATTTTCTTTTATGTCTTTTTGAATCTGGAGCCTTCGAAATTTGCCATGTATGTCAAGATGGTTCCCTTTTAAAAGTTAC... |
Task1_train_5869 | This sequence variant lies in TRNT1 (tRNA nucleotidyl transferase 1) on Chromosome 3. Is it clinically significant, and what condition might it cause if any? | Pathogenic; TRNT1-related disorder | ATATGTATGAATACGTATGTGTTTTAATAACTGTTCACTCTGCTGAATTTTTACTGTTTGTGATAGTGTTTAGCTGATTTTCTTGTGTTTTCAAATTCTTATTTGCCAATAGTGATTTTTCTCCCTCCTTTTCTAATGAATAGGTTTTGATGGCACTTTATTTGACTACTTTAATGGTTATGAAGATTTAAAAAATAAGAAAGTTAGATTTGTTGGACATGCTAAACAGAGAATACAAGAGGATTATCTTAGAATTTTAAGATACTTCAGGTAAGAATTTTTAAAAATAAAAAATGATAGTTTTAATATCATGACTAGAG... | ATATGTATGAATACGTATGTGTTTTAATAACTGTTCACTCTGCTGAATTTTTACTGTTTGTGATAGTGTTTAGCTGATTTTCTTGTGTTTTCAAATTCTTATTTGCCAATAGTGATTTTTCTCCCTCCTTTTCTAATGAATAGGTTTTGATGGCACTTTATTTGACTACTTTAATGGTTATGAAGATTTAAAAAATAAGAAAGTTAGATTTGTTGGACATGCTAAACAGAGAATACAAGAGGATTATCTTAGAATTTTAAGATACTTCAGGTAAGAATTTTTAAAAATAAAAAATGATAGTTTTAATATCATGACTAGAG... |
Task1_train_5870 | A variant was discovered in gene TRNT1 (tRNA nucleotidyl transferase 1), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | ATATGTATGAATACGTATGTGTTTTAATAACTGTTCACTCTGCTGAATTTTTACTGTTTGTGATAGTGTTTAGCTGATTTTCTTGTGTTTTCAAATTCTTATTTGCCAATAGTGATTTTTCTCCCTCCTTTTCTAATGAATAGGTTTTGATGGCACTTTATTTGACTACTTTAATGGTTATGAAGATTTAAAAAATAAGAAAGTTAGATTTGTTGGACATGCTAAACAGAGAATACAAGAGGATTATCTTAGAATTTTAAGATACTTCAGGTAAGAATTTTTAAAAATAAAAAATGATAGTTTTAATATCATGACTAGAG... | ATATGTATGAATACGTATGTGTTTTAATAACTGTTCACTCTGCTGAATTTTTACTGTTTGTGATAGTGTTTAGCTGATTTTCTTGTGTTTTCAAATTCTTATTTGCCAATAGTGATTTTTCTCCCTCCTTTTCTAATGAATAGGTTTTGATGGCACTTTATTTGACTACTTTAATGGTTATGAAGATTTAAAAAATAAGAAAGTTAGATTTGTTGGACATGCTAAACAGAGAATACAAGAGGATTATCTTAGAATTTTAAGATACTTCAGGTAAGAATTTTTAAAAATAAAAAATGATAGTTTTAATATCATGACTAGAG... |
Task1_train_5871 | A mutation found in SUMF1 (sulfatase modifying factor 1) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Multiple sulfatase deficiency | TGCTACCAATGTTTGTTCTTTTTTTTTTTTTTTTTTGCCTGGGATTAATCATCAGTAGGTGGAAGTTTGTAGAGAAACATTTGATATCTACAAAATGAACCACAAATGTGGCTAAACGTGCCAGCTACATGACTTTTTTTTTTTTTTCTTTTTTTCCTGAGACAAAGTCTTGTTCTCTTATCCAGGCTGGAATGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGCAATTCTCCTGGCTCAGTCCTGAGTAGCTGGGACTACAGGCAAGTGTCACCACTCCTGGCTAAATTTTATTTTTTGTA... | TGCTACCAATGTTTGTTCTTTTTTTTTTTTTTTTTTGCCTGGGATTAATCATCAGTAGGTGGAAGTTTGTAGAGAAACATTTGATATCTACAAAATGAACCACAAATGTGGCTAAACGTGCCAGCTACATGACTTTTTTTTTTTTTTCTTTTTTTCCTGAGACAAAGTCTTGTTCTCTTATCCAGGCTGGAATGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGCAATTCTCCTGGCTCAGTCCTGAGTAGCTGGGACTACAGGCAAGTGTCACCACTCCTGGCTAAATTTTATTTTTTGTA... |
Task1_train_5872 | This variant impacts the gene SUMF1 (sulfatase modifying factor 1) on Chromosome 3. Is the change likely to result in a pathogenic outcome? | Pathogenic; Multiple sulfatase deficiency | TTACAAAAACATTACTAGAACTAATAAATGAGTTTTGCAAGGTTGCAAGACTCAAGATGAACATAAAAAATCAGTACCATGTAAGTGTACTTAATAAAGTATGTAGGAGTTTAAAAGATATTTTTAAAGAATCTACTGGGAAGCTTATAAAAATGTAGATTACAAATAAGCTAAAAGTTATAAAACATGAAAGTAGATACATTCATACGCATGGAATTAGGACAGTTAATGTCCTTTACTTGCTTAAAATGTTTTTTACAAGCTTCTGTTACCCCATTTATTCTTGATGAAAAATCTTCTGGTCCTCAATTACTTAGAAA... | TTACAAAAACATTACTAGAACTAATAAATGAGTTTTGCAAGGTTGCAAGACTCAAGATGAACATAAAAAATCAGTACCATGTAAGTGTACTTAATAAAGTATGTAGGAGTTTAAAAGATATTTTTAAAGAATCTACTGGGAAGCTTATAAAAATGTAGATTACAAATAAGCTAAAAGTTATAAAACATGAAAGTAGATACATTCATACGCATGGAATTAGGACAGTTAATGTCCTTTACTTGCTTAAAATGTTTTTTACAAGCTTCTGTTACCCCATTTATTCTTGATGAAAAATCTTCTGGTCCTCAATTACTTAGAAA... |
Task1_train_5873 | A genomic change on Chromosome 3 affects SUMF1 (sulfatase modifying factor 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Multiple sulfatase deficiency | CAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGGAGTGAGCCACGATCACGCCACTGCACTCCAGCCTCGGCAACAGAGTAAGACTCCATCTCAAAAAAAAAAAAAAAAAAACAGACAGAAAAATAAAAGAAATGATTATCACGGTCTTGTCCAAATGAGGGCCACAAAAGCCATCACCTGTGTCTTTGGAATGGAGCTCATTTCAAATGAGCATATGATTATGCCAACAAAAGAATGGTGAGAAAGGAACTCTTGTACACCCATAAAGGAAAACATGCCCCAAGTGTTCTGGAAAATAATTCAACCATATATCTGAA... | CAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGGAGTGAGCCACGATCACGCCACTGCACTCCAGCCTCGGCAACAGAGTAAGACTCCATCTCAAAAAAAAAAAAAAAAAAACAGACAGAAAAATAAAAGAAATGATTATCACGGTCTTGTCCAAATGAGGGCCACAAAAGCCATCACCTGTGTCTTTGGAATGGAGCTCATTTCAAATGAGCATATGATTATGCCAACAAAAGAATGGTGAGAAAGGAACTCTTGTACACCCATAAAGGAAAACATGCCCCAAGTGTTCTGGAAAATAATTCAACCATATATCTGAA... |
Task1_train_5874 | A mutation in SUMF1 (sulfatase modifying factor 1), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Multiple sulfatase deficiency | TCTTACAGTAGCACAAAGGGACTAAGACTAAGACATGGCTTTATGAGTATATGATTATGCCAGCAAAAGAACGGTGAGAAAAGATTTCTTATACACCAATAGAGGAAAACATGCCCCAAGCATTCTGGAAAACAGTTTGGCCATATATCTGAAACTCTTACCCAGAAAGTTTTCTAGACTTTGAATTATTTCACTGCTGGGAATCTAATCTATCTTTCAAAAATCATCAAAGACGTAGGTTAATATTTATGTACAAGATGTTCACTGTAGAAAAAAAAAACAGAAATAACCTGTTTCCAGTAAATACATTGGGGTTTATT... | TCTTACAGTAGCACAAAGGGACTAAGACTAAGACATGGCTTTATGAGTATATGATTATGCCAGCAAAAGAACGGTGAGAAAAGATTTCTTATACACCAATAGAGGAAAACATGCCCCAAGCATTCTGGAAAACAGTTTGGCCATATATCTGAAACTCTTACCCAGAAAGTTTTCTAGACTTTGAATTATTTCACTGCTGGGAATCTAATCTATCTTTCAAAAATCATCAAAGACGTAGGTTAATATTTATGTACAAGATGTTCACTGTAGAAAAAAAAAACAGAAATAACCTGTTTCCAGTAAATACATTGGGGTTTATT... |
Task1_train_5875 | An alteration has been detected in SUMF1 (sulfatase modifying factor 1) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Multiple sulfatase deficiency | CAACCGCATCATTCCAGGACACATGGAGAACTGGATGATCCGGCCTGGGGAAGAGCAAAAGTAGAATGAAAAGTGACACCAATCAGAACAAGAAGCAGGAGCTGGCTTCAGCAAAGCGCCCATAATCCCCCTCAGTTCAATCTGTGACACTGAGGTCATCCTGGTCCTTAAGTCAAACCCCAGCCATGCTACATCTGTCATGCTCCACCAACGGTTTCTGACAACCCAGGCTCCCAAATGGGTTACAGTTCCACTGGGAACTAGACTCAAAACATTTCTTCACTTTGTAGGCTCGGATTCCCACAGAATGTCATTGGTAT... | CAACCGCATCATTCCAGGACACATGGAGAACTGGATGATCCGGCCTGGGGAAGAGCAAAAGTAGAATGAAAAGTGACACCAATCAGAACAAGAAGCAGGAGCTGGCTTCAGCAAAGCGCCCATAATCCCCCTCAGTTCAATCTGTGACACTGAGGTCATCCTGGTCCTTAAGTCAAACCCCAGCCATGCTACATCTGTCATGCTCCACCAACGGTTTCTGACAACCCAGGCTCCCAAATGGGTTACAGTTCCACTGGGAACTAGACTCAAAACATTTCTTCACTTTGTAGGCTCGGATTCCCACAGAATGTCATTGGTAT... |
Task1_train_5876 | With a mutation on Chromosome 3 in gene SUMF1 (sulfatase modifying factor 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Multiple sulfatase deficiency | CTTGGCGCGGTGGCTCACGTTTGTAATCCCAGCACGCTGGGAGGCCAAGGCAAGCGGATCACAAGGTCAGGAGATTGAGACCATCCGGGCCAACATGGTGAAACCCCATCTCTATTAAAAATACAAAAATTAGCTGGGTATGGTGGCGTGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAAGGAGAATCATTCGAACCCAGGAGGTGGAGATTGCAGTGAGCGGAGATCGCGCCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCGTCTAAAAAAAAAAAAAAGAAAAGAAAAAAGAAAGAGAGATTGA... | CTTGGCGCGGTGGCTCACGTTTGTAATCCCAGCACGCTGGGAGGCCAAGGCAAGCGGATCACAAGGTCAGGAGATTGAGACCATCCGGGCCAACATGGTGAAACCCCATCTCTATTAAAAATACAAAAATTAGCTGGGTATGGTGGCGTGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAAGGAGAATCATTCGAACCCAGGAGGTGGAGATTGCAGTGAGCGGAGATCGCGCCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCGTCTAAAAAAAAAAAAAAGAAAAGAAAAAAGAAAGAGAGATTGA... |
Task1_train_5877 | A mutation on Chromosome 3 affecting ITPR1 (inositol 1,4,5-trisphosphate receptor type 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | TATATATAGTATTATAATTATAGAAACATGCGTATAAGTCTCAATGGCTGTATATATGACTTGATCATAGACCATGTATTTCCGAATGTTATAGTAAAAATATGAAAGTAATTGTTTTAGAAACATAAAGTTATGGCTTTGTCAAAGATAAAGACTTACTCTGACTCTATCTTGTTTTTTCTTAAATTTAGTTAAAACTTACTTATATAGGTACCTTAAACTGAACAGTTTTTTTTTTTTTTCCTGCTCTGAACTGGCTTTGAAACATCTCTGTATAATCAGTGACACTCGAGGAACAACATTCAGGCTTAGCCTTGTAA... | TATATATAGTATTATAATTATAGAAACATGCGTATAAGTCTCAATGGCTGTATATATGACTTGATCATAGACCATGTATTTCCGAATGTTATAGTAAAAATATGAAAGTAATTGTTTTAGAAACATAAAGTTATGGCTTTGTCAAAGATAAAGACTTACTCTGACTCTATCTTGTTTTTTCTTAAATTTAGTTAAAACTTACTTATATAGGTACCTTAAACTGAACAGTTTTTTTTTTTTTTCCTGCTCTGAACTGGCTTTGAAACATCTCTGTATAATCAGTGACACTCGAGGAACAACATTCAGGCTTAGCCTTGTAA... |
Task1_train_5878 | Assess the clinical impact of this variant on gene ITPR1 (inositol 1,4,5-trisphosphate receptor type 1), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Spinocerebellar ataxia type 29 | GCTTTATGAGAAATCATAAAGCATGAGTGGTAGCTCATGCCTGTAGTCCCAGCACTTTGGGAAGCCGAGGTGGGAGGATCCCCTTGAGCCCAGGAAATGGAGGTTGCAGTGAGCTGATCGCATCACTGCCCTCCAGCCTGGGTGACAGAGAGAGAGCCTGTCTCAAAAGAGAAAGAAAAAGAGAAATCAATGGGATCATTGAGGGATATTGGTGATTCCCACCTCAAAGGCTTGATGAATTGATTTTTCAATAGACTATTTTCTAGAGCAGTTTTTAGGTTCTCAGCAAGATTGTGCAAAAAGTCCAGAGAGTTCCCATA... | GCTTTATGAGAAATCATAAAGCATGAGTGGTAGCTCATGCCTGTAGTCCCAGCACTTTGGGAAGCCGAGGTGGGAGGATCCCCTTGAGCCCAGGAAATGGAGGTTGCAGTGAGCTGATCGCATCACTGCCCTCCAGCCTGGGTGACAGAGAGAGAGCCTGTCTCAAAAGAGAAAGAAAAAGAGAAATCAATGGGATCATTGAGGGATATTGGTGATTCCCACCTCAAAGGCTTGATGAATTGATTTTTCAATAGACTATTTTCTAGAGCAGTTTTTAGGTTCTCAGCAAGATTGTGCAAAAAGTCCAGAGAGTTCCCATA... |
Task1_train_5879 | This alteration in ITPR1 (inositol 1,4,5-trisphosphate receptor type 1) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | TTATGAGAAATCATAAAGCATGAGTGGTAGCTCATGCCTGTAGTCCCAGCACTTTGGGAAGCCGAGGTGGGAGGATCCCCTTGAGCCCAGGAAATGGAGGTTGCAGTGAGCTGATCGCATCACTGCCCTCCAGCCTGGGTGACAGAGAGAGAGCCTGTCTCAAAAGAGAAAGAAAAAGAGAAATCAATGGGATCATTGAGGGATATTGGTGATTCCCACCTCAAAGGCTTGATGAATTGATTTTTCAATAGACTATTTTCTAGAGCAGTTTTTAGGTTCTCAGCAAGATTGTGCAAAAAGTCCAGAGAGTTCCCATATCT... | TTATGAGAAATCATAAAGCATGAGTGGTAGCTCATGCCTGTAGTCCCAGCACTTTGGGAAGCCGAGGTGGGAGGATCCCCTTGAGCCCAGGAAATGGAGGTTGCAGTGAGCTGATCGCATCACTGCCCTCCAGCCTGGGTGACAGAGAGAGAGCCTGTCTCAAAAGAGAAAGAAAAAGAGAAATCAATGGGATCATTGAGGGATATTGGTGATTCCCACCTCAAAGGCTTGATGAATTGATTTTTCAATAGACTATTTTCTAGAGCAGTTTTTAGGTTCTCAGCAAGATTGTGCAAAAAGTCCAGAGAGTTCCCATATCT... |
Task1_train_5880 | This gene mutation involves ITPR1 (inositol 1,4,5-trisphosphate receptor type 1) on Chromosome 3. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | TGGATGCAGAATAGTTCAGTGTTGAGCTTGCTCTTGGGAAGGAAACACAAGCCCAGGAAGAATATTATTACCTAATCGTTAAGAAACGTACTGGAGAATTCTCTTCTGCAGACATCTTTCTATGAGATTTCTGGTTTTGGAGTTGGTTTTACATTTATAGAATTTTTTATGACGTATTCCCTTAGGGCTTAGGGGTGAAATGATGCCATGTGTTTATATTAAAGATATAGTGGAGTCTTTTCTTCCTGCACCTTTAAAATTCTCCGTCTCTTTCTAGAAACATGATCTTTATTTTGTTTCTGATTCATGTTTTATGACAT... | TGGATGCAGAATAGTTCAGTGTTGAGCTTGCTCTTGGGAAGGAAACACAAGCCCAGGAAGAATATTATTACCTAATCGTTAAGAAACGTACTGGAGAATTCTCTTCTGCAGACATCTTTCTATGAGATTTCTGGTTTTGGAGTTGGTTTTACATTTATAGAATTTTTTATGACGTATTCCCTTAGGGCTTAGGGGTGAAATGATGCCATGTGTTTATATTAAAGATATAGTGGAGTCTTTTCTTCCTGCACCTTTAAAATTCTCCGTCTCTTTCTAGAAACATGATCTTTATTTTGTTTCTGATTCATGTTTTATGACAT... |
Task1_train_5881 | The variant affects gene ITPR1 (inositol 1,4,5-trisphosphate receptor type 1), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Spinocerebellar ataxia type 29 | GAGCTTGCTCTTGGGAAGGAAACACAAGCCCAGGAAGAATATTATTACCTAATCGTTAAGAAACGTACTGGAGAATTCTCTTCTGCAGACATCTTTCTATGAGATTTCTGGTTTTGGAGTTGGTTTTACATTTATAGAATTTTTTATGACGTATTCCCTTAGGGCTTAGGGGTGAAATGATGCCATGTGTTTATATTAAAGATATAGTGGAGTCTTTTCTTCCTGCACCTTTAAAATTCTCCGTCTCTTTCTAGAAACATGATCTTTATTTTGTTTCTGATTCATGTTTTATGACATTCTAAGTCATTGTCTATAGAGAT... | GAGCTTGCTCTTGGGAAGGAAACACAAGCCCAGGAAGAATATTATTACCTAATCGTTAAGAAACGTACTGGAGAATTCTCTTCTGCAGACATCTTTCTATGAGATTTCTGGTTTTGGAGTTGGTTTTACATTTATAGAATTTTTTATGACGTATTCCCTTAGGGCTTAGGGGTGAAATGATGCCATGTGTTTATATTAAAGATATAGTGGAGTCTTTTCTTCCTGCACCTTTAAAATTCTCCGTCTCTTTCTAGAAACATGATCTTTATTTTGTTTCTGATTCATGTTTTATGACATTCTAAGTCATTGTCTATAGAGAT... |
Task1_train_5882 | Mutation context: Chromosome 3, Gene ITPR1 (inositol 1,4,5-trisphosphate receptor type 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Spinocerebellar ataxia type 15/16 | TATATTTTCAGTTACTGTTTTGTAGGGAAGGCTGCTCTTCCAGAGCTCTCAGAGGCCTTCCCTTTATTATGTTAGTAAATATTTAGTCTCTGGGCTTAGGTTGTTTTGGTGCTATCTTTGGAACTGTTAGTACTCAAGTCAGAGTTAACTTGGTTGGCTTGATTGGGAGGAGAGAGAGAGTGAGAGAGAGAGAGAGAGAAAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCCCACCTAGGACAGAAAGGATTTAAGGAGATTTCTCAAAATACCTACATTACAAGATTATTTTTACATAGTGAGGAAATGCAATC... | TATATTTTCAGTTACTGTTTTGTAGGGAAGGCTGCTCTTCCAGAGCTCTCAGAGGCCTTCCCTTTATTATGTTAGTAAATATTTAGTCTCTGGGCTTAGGTTGTTTTGGTGCTATCTTTGGAACTGTTAGTACTCAAGTCAGAGTTAACTTGGTTGGCTTGATTGGGAGGAGAGAGAGAGTGAGAGAGAGAGAGAGAGAAAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCCCACCTAGGACAGAAAGGATTTAAGGAGATTTCTCAAAATACCTACATTACAAGATTATTTTTACATAGTGAGGAAATGCAATC... |
Task1_train_5883 | A sequence alteration has been identified in ITPR1 (inositol 1,4,5-trisphosphate receptor type 1) on Chromosome 3. Is it disease-inducing or harmless? | Pathogenic; Spinocerebellar ataxia type 29 | GCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCAGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCTGGCATGGCGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCCGAGATCACGCCGCTGCACTCCAGCCTGGGCGACAGGAGCGCAACTCTGTCTCAAAAAAACAAAAAAATCCCTACCTGTTGGGTACTCTGTTCTCTATCTGGGTG... | GCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCAGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCTGGCATGGCGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCCGAGATCACGCCGCTGCACTCCAGCCTGGGCGACAGGAGCGCAACTCTGTCTCAAAAAAACAAAAAAATCCCTACCTGTTGGGTACTCTGTTCTCTATCTGGGTG... |
Task1_train_5884 | A genomic change on Chromosome 3 affects ITPR1 (inositol 1,4,5-trisphosphate receptor type 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Neurodevelopmental disorder | GCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCAGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCTGGCATGGCGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCCGAGATCACGCCGCTGCACTCCAGCCTGGGCGACAGGAGCGCAACTCTGTCTCAAAAAAACAAAAAAATCCCTACCTGTTGGGTACTCTGTTCTCTATCTGGGTG... | GCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCAGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCTGGCATGGCGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCCGAGATCACGCCGCTGCACTCCAGCCTGGGCGACAGGAGCGCAACTCTGTCTCAAAAAAACAAAAAAATCCCTACCTGTTGGGTACTCTGTTCTCTATCTGGGTG... |
Task1_train_5885 | This mutation occurs in ITPR1 (inositol 1,4,5-trisphosphate receptor type 1) on Chromosome 3. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Inborn genetic diseases | GCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCAGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCTGGCATGGCGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCCGAGATCACGCCGCTGCACTCCAGCCTGGGCGACAGGAGCGCAACTCTGTCTCAAAAAAACAAAAAAATCCCTACCTGTTGGGTACTCTGTTCTCTATCTGGGTG... | GCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCAGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCTGGCATGGCGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCCGAGATCACGCCGCTGCACTCCAGCCTGGGCGACAGGAGCGCAACTCTGTCTCAAAAAAACAAAAAAATCCCTACCTGTTGGGTACTCTGTTCTCTATCTGGGTG... |
Task1_train_5886 | An alteration has been detected in ITPR1 (inositol 1,4,5-trisphosphate receptor type 1) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | ATGTTTGTATGACTTTATTATGTGAATAATTCATGCTCATTGAAAATAAACAACACTGACAAGTATTTCTATATAGAAGAAAATCAGAATCACCTGTAATCCCACCACCCAGAGAAAACCAGTAGTAATGTTTTAATATTTGATGTTTATCCTTTAGCTAGATATTGATGATGTTTATAAAAATAGGATTATTATTGTTTGACCTTTGTTATGCCCATGTCATAGACATCTTTCCATGTTGTTAAATTGATTTTTTGCGTCATATTTTAAGCTACATGCAGTGGTACCTTGAGTAGCATAAGGGCCACCTTGAAAGAAGG... | ATGTTTGTATGACTTTATTATGTGAATAATTCATGCTCATTGAAAATAAACAACACTGACAAGTATTTCTATATAGAAGAAAATCAGAATCACCTGTAATCCCACCACCCAGAGAAAACCAGTAGTAATGTTTTAATATTTGATGTTTATCCTTTAGCTAGATATTGATGATGTTTATAAAAATAGGATTATTATTGTTTGACCTTTGTTATGCCCATGTCATAGACATCTTTCCATGTTGTTAAATTGATTTTTTGCGTCATATTTTAAGCTACATGCAGTGGTACCTTGAGTAGCATAAGGGCCACCTTGAAAGAAGG... |
Task1_train_5887 | With a mutation on Chromosome 3 in gene ITPR1 (inositol 1,4,5-trisphosphate receptor type 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Spinocerebellar ataxia type 29 | TCTGTGATAGCTGCATGTTTCCTCCTAACAGGTTGAAATGCTCACAACAGATGAATTTGTGTTGCAGGTGTATTTTTTAGCAACTTGTTTTGTCTTTGGTCTACCATCAAATTGATGCCTAAACATATTTTCCTGCAAACTAGCATTTCCCTGCAACTAGATGGTGGCTAAGCCTTTTGCTCCTCCTTCCCATGCAGTGACCATCTTGGTGATGGTTGAATGATTTGAGGGATTTGATTTTATTGCACTTCGTCCCGTGGTTGTTAGGACTCTTGTCTTTCCGTAAAATAATGAGGATATTGGCACCCAGGATAGTGAAA... | TCTGTGATAGCTGCATGTTTCCTCCTAACAGGTTGAAATGCTCACAACAGATGAATTTGTGTTGCAGGTGTATTTTTTAGCAACTTGTTTTGTCTTTGGTCTACCATCAAATTGATGCCTAAACATATTTTCCTGCAAACTAGCATTTCCCTGCAACTAGATGGTGGCTAAGCCTTTTGCTCCTCCTTCCCATGCAGTGACCATCTTGGTGATGGTTGAATGATTTGAGGGATTTGATTTTATTGCACTTCGTCCCGTGGTTGTTAGGACTCTTGTCTTTCCGTAAAATAATGAGGATATTGGCACCCAGGATAGTGAAA... |
Task1_train_5888 | A mutation in ITPR1 (inositol 1,4,5-trisphosphate receptor type 1), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Gillespie syndrome | CAACCTTTCTCTTCCACGTAAGGTATCTCATGAGGGGATAGGAGCTTCTGAACTGTTAGGTCACACAGAATGAAGATTCCTTGCTCCAAGCTAAGAAGTGAATCCCAACAGCATCGAGTACTAAATACCTTGGTTCTGAAAGTCACAAAGAGAGAAACAGTGGAAACGCCATTCCCTCTCTGGTTTCTGATTTTTCCCCATTTGAGGGAAAAGGGCCGGTTGAAGAATAGTACAACTAAGCCTATCTAGGACCAAAAAAAAAAAACCCAAAAAAACAAACATGTATTTTTACTTAATCAAGGAAATACCTTTTTCTCTTT... | CAACCTTTCTCTTCCACGTAAGGTATCTCATGAGGGGATAGGAGCTTCTGAACTGTTAGGTCACACAGAATGAAGATTCCTTGCTCCAAGCTAAGAAGTGAATCCCAACAGCATCGAGTACTAAATACCTTGGTTCTGAAAGTCACAAAGAGAGAAACAGTGGAAACGCCATTCCCTCTCTGGTTTCTGATTTTTCCCCATTTGAGGGAAAAGGGCCGGTTGAAGAATAGTACAACTAAGCCTATCTAGGACCAAAAAAAAAAAACCCAAAAAAACAAACATGTATTTTTACTTAATCAAGGAAATACCTTTTTCTCTTT... |
Task1_train_5889 | The gene ITPR1 (inositol 1,4,5-trisphosphate receptor type 1) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Spinocerebellar ataxia type 29 | TAGAAGTGTTCCTCACAGCATTATTTGTTATGACATATAATTGGAAACATCTTGACTGTTTTTAAAAAACATATTGGTTATGTTAATCATGTTTTTCCCATATAGTGAAATACCAGGTGATCATTTTTGACAGGAAAATGTTCCTGATGGCTTGGTGAAAGGCTGGTTATGTGCCAGTATTATGGTCTAATATTTTTGTAAACAATATATATCTATAAATTGCATTTTTTAAGGCCAGAAGGAATTAAGCTATTGAGCGAATGTCTCTAGATGGTGAATTATTAGTGACTTTTTTTCCTTTGTGCTTTTTTTTGTTTTCC... | TAGAAGTGTTCCTCACAGCATTATTTGTTATGACATATAATTGGAAACATCTTGACTGTTTTTAAAAAACATATTGGTTATGTTAATCATGTTTTTCCCATATAGTGAAATACCAGGTGATCATTTTTGACAGGAAAATGTTCCTGATGGCTTGGTGAAAGGCTGGTTATGTGCCAGTATTATGGTCTAATATTTTTGTAAACAATATATATCTATAAATTGCATTTTTTAAGGCCAGAAGGAATTAAGCTATTGAGCGAATGTCTCTAGATGGTGAATTATTAGTGACTTTTTTTCCTTTGTGCTTTTTTTTGTTTTCC... |
Task1_train_5890 | A variant found in Chromosome 3 affects ITPR1, LOC126806590 (inositol 1,4,5-trisphosphate receptor type 1| MED14-independent group 3 enhancer GRCh37_chr3:4855759-4856958). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | TTACACATAGCAAGAACAGAAGAGATTTCCAATTCTGAGAGTGAAAAAAAATGACCATAATACTTGAATGGTACCCAAGTGCCCTCTTCTCTCAGTTACAATAGTTGGCCCGACTTAGTGAAATACTACTGGTTTTTCATCCCGAGTCTAAGAAACAGACTAGAATCGTTGTGGCTGACTGAGCCAGCCAGCCTTTGTGCTCTCCCTCCCAAATGCTGTGTTCTTGGCATGTATCTCCAGCCTCCCAAGTTGACACTAAGTGACATTTACTGCCAGCCATCTTAGAGTTGTGGACTAAACTGGCCTGGACCTTGGATTTC... | TTACACATAGCAAGAACAGAAGAGATTTCCAATTCTGAGAGTGAAAAAAAATGACCATAATACTTGAATGGTACCCAAGTGCCCTCTTCTCTCAGTTACAATAGTTGGCCCGACTTAGTGAAATACTACTGGTTTTTCATCCCGAGTCTAAGAAACAGACTAGAATCGTTGTGGCTGACTGAGCCAGCCAGCCTTTGTGCTCTCCCTCCCAAATGCTGTGTTCTTGGCATGTATCTCCAGCCTCCCAAGTTGACACTAAGTGACATTTACTGCCAGCCATCTTAGAGTTGTGGACTAAACTGGCCTGGACCTTGGATTTC... |
Task1_train_5891 | A variant affecting Chromosome 3, within the gene ITPR1, LOC126806590 (inositol 1,4,5-trisphosphate receptor type 1| MED14-independent group 3 enhancer GRCh37_chr3:4855759-4856958), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Spinocerebellar ataxia type 15/16 | ATTTTAACCATATGCTGCCAGATTGTTCATCATAAAATTTCCTTCTCTCTCCCAGAAACCGGCGAGAGTTTGGCAAGCGAGTTCCTGTTCTCCGATGTGTGTAGGGTGGAGAGTGGGGAGAACTGCTCCTCTCCTGCACCCAGAGAAGGTAGGACCTCCTAACTGTAAGCCCCATGTTAATATCGGACTCCTCCAGAGGCTTAGCTGATGCAGGTGATGTTGGAAGAAGATTAAATTTACTGCTCAGGAGTAAGGCTATAGCAAAGGGGAAAGGCTGAGAAAGAGGAGGGAGATGAAGGGAAAAGAAGGTTACACCTGAA... | ATTTTAACCATATGCTGCCAGATTGTTCATCATAAAATTTCCTTCTCTCTCCCAGAAACCGGCGAGAGTTTGGCAAGCGAGTTCCTGTTCTCCGATGTGTGTAGGGTGGAGAGTGGGGAGAACTGCTCCTCTCCTGCACCCAGAGAAGGTAGGACCTCCTAACTGTAAGCCCCATGTTAATATCGGACTCCTCCAGAGGCTTAGCTGATGCAGGTGATGTTGGAAGAAGATTAAATTTACTGCTCAGGAGTAAGGCTATAGCAAAGGGGAAAGGCTGAGAAAGAGGAGGGAGATGAAGGGAAAAGAAGGTTACACCTGAA... |
Task1_train_5892 | Gene ITPR1, LOC126806590 (inositol 1,4,5-trisphosphate receptor type 1| MED14-independent group 3 enhancer GRCh37_chr3:4855759-4856958), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Gillespie syndrome | ATATGCTGCCAGATTGTTCATCATAAAATTTCCTTCTCTCTCCCAGAAACCGGCGAGAGTTTGGCAAGCGAGTTCCTGTTCTCCGATGTGTGTAGGGTGGAGAGTGGGGAGAACTGCTCCTCTCCTGCACCCAGAGAAGGTAGGACCTCCTAACTGTAAGCCCCATGTTAATATCGGACTCCTCCAGAGGCTTAGCTGATGCAGGTGATGTTGGAAGAAGATTAAATTTACTGCTCAGGAGTAAGGCTATAGCAAAGGGGAAAGGCTGAGAAAGAGGAGGGAGATGAAGGGAAAAGAAGGTTACACCTGAAGAAAAGATC... | ATATGCTGCCAGATTGTTCATCATAAAATTTCCTTCTCTCTCCCAGAAACCGGCGAGAGTTTGGCAAGCGAGTTCCTGTTCTCCGATGTGTGTAGGGTGGAGAGTGGGGAGAACTGCTCCTCTCCTGCACCCAGAGAAGGTAGGACCTCCTAACTGTAAGCCCCATGTTAATATCGGACTCCTCCAGAGGCTTAGCTGATGCAGGTGATGTTGGAAGAAGATTAAATTTACTGCTCAGGAGTAAGGCTATAGCAAAGGGGAAAGGCTGAGAAAGAGGAGGGAGATGAAGGGAAAAGAAGGTTACACCTGAAGAAAAGATC... |
Task1_train_5893 | Gene ITPR1, LOC126806590 (inositol 1,4,5-trisphosphate receptor type 1| MED14-independent group 3 enhancer GRCh37_chr3:4855759-4856958), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Gillespie syndrome | AGATTGTTCATCATAAAATTTCCTTCTCTCTCCCAGAAACCGGCGAGAGTTTGGCAAGCGAGTTCCTGTTCTCCGATGTGTGTAGGGTGGAGAGTGGGGAGAACTGCTCCTCTCCTGCACCCAGAGAAGGTAGGACCTCCTAACTGTAAGCCCCATGTTAATATCGGACTCCTCCAGAGGCTTAGCTGATGCAGGTGATGTTGGAAGAAGATTAAATTTACTGCTCAGGAGTAAGGCTATAGCAAAGGGGAAAGGCTGAGAAAGAGGAGGGAGATGAAGGGAAAAGAAGGTTACACCTGAAGAAAAGATCTGATGTGATT... | AGATTGTTCATCATAAAATTTCCTTCTCTCTCCCAGAAACCGGCGAGAGTTTGGCAAGCGAGTTCCTGTTCTCCGATGTGTGTAGGGTGGAGAGTGGGGAGAACTGCTCCTCTCCTGCACCCAGAGAAGGTAGGACCTCCTAACTGTAAGCCCCATGTTAATATCGGACTCCTCCAGAGGCTTAGCTGATGCAGGTGATGTTGGAAGAAGATTAAATTTACTGCTCAGGAGTAAGGCTATAGCAAAGGGGAAAGGCTGAGAAAGAGGAGGGAGATGAAGGGAAAAGAAGGTTACACCTGAAGAAAAGATCTGATGTGATT... |
Task1_train_5894 | Located on Chromosome 3, this mutation impacts GRM7 (glutamate metabotropic receptor 7). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Bilateral multifocal epileptiform discharges | CAAATGAATAATCATAACAGTATCATTAAGAACCAAGATTGTCCTCATGAGAGAAAGGAAGTAGAGATTTAAGAGTGTCAAGGTTAAGCAAAAACTCTGTAGTCCTGAATTTGAATGGGAAATAGCTGCATAAATTCATGATAAATTTTATCTTTAAAAAAAAATCCTATACTATATACACTGAAAAACCCTAGATCCCGTGACAGGCAGTGAGCATAAAGTTGATTTGGTATTTAAATGAGATACATATAAAACACAACTCTCTGGCATATGAGATATTAATGGTGCTCTGAAATGGAAAAATACAAATTCAAGTAAAT... | CAAATGAATAATCATAACAGTATCATTAAGAACCAAGATTGTCCTCATGAGAGAAAGGAAGTAGAGATTTAAGAGTGTCAAGGTTAAGCAAAAACTCTGTAGTCCTGAATTTGAATGGGAAATAGCTGCATAAATTCATGATAAATTTTATCTTTAAAAAAAAATCCTATACTATATACACTGAAAAACCCTAGATCCCGTGACAGGCAGTGAGCATAAAGTTGATTTGGTATTTAAATGAGATACATATAAAACACAACTCTCTGGCATATGAGATATTAATGGTGCTCTGAAATGGAAAAATACAAATTCAAGTAAAT... |
Task1_train_5895 | A genomic change on Chromosome 3 affects GRM7 (glutamate metabotropic receptor 7). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Global developmental delay | CAAATGAATAATCATAACAGTATCATTAAGAACCAAGATTGTCCTCATGAGAGAAAGGAAGTAGAGATTTAAGAGTGTCAAGGTTAAGCAAAAACTCTGTAGTCCTGAATTTGAATGGGAAATAGCTGCATAAATTCATGATAAATTTTATCTTTAAAAAAAAATCCTATACTATATACACTGAAAAACCCTAGATCCCGTGACAGGCAGTGAGCATAAAGTTGATTTGGTATTTAAATGAGATACATATAAAACACAACTCTCTGGCATATGAGATATTAATGGTGCTCTGAAATGGAAAAATACAAATTCAAGTAAAT... | CAAATGAATAATCATAACAGTATCATTAAGAACCAAGATTGTCCTCATGAGAGAAAGGAAGTAGAGATTTAAGAGTGTCAAGGTTAAGCAAAAACTCTGTAGTCCTGAATTTGAATGGGAAATAGCTGCATAAATTCATGATAAATTTTATCTTTAAAAAAAAATCCTATACTATATACACTGAAAAACCCTAGATCCCGTGACAGGCAGTGAGCATAAAGTTGATTTGGTATTTAAATGAGATACATATAAAACACAACTCTCTGGCATATGAGATATTAATGGTGCTCTGAAATGGAAAAATACAAATTCAAGTAAAT... |
Task1_train_5896 | With a mutation on Chromosome 3 in gene GRM7 (glutamate metabotropic receptor 7), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Microcephaly | CAAATGAATAATCATAACAGTATCATTAAGAACCAAGATTGTCCTCATGAGAGAAAGGAAGTAGAGATTTAAGAGTGTCAAGGTTAAGCAAAAACTCTGTAGTCCTGAATTTGAATGGGAAATAGCTGCATAAATTCATGATAAATTTTATCTTTAAAAAAAAATCCTATACTATATACACTGAAAAACCCTAGATCCCGTGACAGGCAGTGAGCATAAAGTTGATTTGGTATTTAAATGAGATACATATAAAACACAACTCTCTGGCATATGAGATATTAATGGTGCTCTGAAATGGAAAAATACAAATTCAAGTAAAT... | CAAATGAATAATCATAACAGTATCATTAAGAACCAAGATTGTCCTCATGAGAGAAAGGAAGTAGAGATTTAAGAGTGTCAAGGTTAAGCAAAAACTCTGTAGTCCTGAATTTGAATGGGAAATAGCTGCATAAATTCATGATAAATTTTATCTTTAAAAAAAAATCCTATACTATATACACTGAAAAACCCTAGATCCCGTGACAGGCAGTGAGCATAAAGTTGATTTGGTATTTAAATGAGATACATATAAAACACAACTCTCTGGCATATGAGATATTAATGGTGCTCTGAAATGGAAAAATACAAATTCAAGTAAAT... |
Task1_train_5897 | The gene GRM7 (glutamate metabotropic receptor 7) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities | TGAAAAAAGAAAACATATGTGTACACACATACAAATATACATAAGCATATATGCATGTATAATTTATAATTATAAATAATAAAACAAGAAGTCTGAATAATTTCATCAACTGCAAAATTCACTCATAAGCAGAGAAACAGAAACAAAACCTAAGATCCCATAGGTTTGTTGACATCCTTTTCCTTTTTGAACTAAGCCATGGTTTGCAAATCTCTCATAAGTACGGTGACAGTGGTGACAAAAATTGTCTATGTCTATAAAGCCCTGTGACCATGTAAAGCCTTTCTTGAACAGTGTAGGCTGGCAAGGTGGAATGACAT... | TGAAAAAAGAAAACATATGTGTACACACATACAAATATACATAAGCATATATGCATGTATAATTTATAATTATAAATAATAAAACAAGAAGTCTGAATAATTTCATCAACTGCAAAATTCACTCATAAGCAGAGAAACAGAAACAAAACCTAAGATCCCATAGGTTTGTTGACATCCTTTTCCTTTTTGAACTAAGCCATGGTTTGCAAATCTCTCATAAGTACGGTGACAGTGGTGACAAAAATTGTCTATGTCTATAAAGCCCTGTGACCATGTAAAGCCTTTCTTGAACAGTGTAGGCTGGCAAGGTGGAATGACAT... |
Task1_train_5898 | A mutation found in CAV3 (caveolin 3) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Long QT syndrome 9 | TACAGTTCCATCATCGTTTGCCAAGACAGGAGTGACCAATGAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTAT... | TACAGTTCCATCATCGTTTGCCAAGACAGGAGTGACCAATGAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTAT... |
Task1_train_5899 | Here is a variant affecting CAV3 (caveolin 3) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Long QT syndrome | TGAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGC... | TGAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGC... |
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