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_19800 | This sequence variant lies in GCH1 (GTP cyclohydrolase 1) on Chromosome 14. Is it clinically significant, and what condition might it cause if any? | Pathogenic; GTP cyclohydrolase I deficiency | CACTTTAATATTGCCACAAAAAGGTGGCAAGAAGAAAGTAGAGGGCTCAACCCTTTATTATATTTATTTGACTTCCTAGAAATAATTTTAAATATAATTAGTGACAAGGAATAAAGTTCACATCTGTAACAATTGAAAATGGAATGTACAAACAAGACCGGACAGACAGACAATGCTACTGGCAGTACGATCGGCAACCAACGCACACACACTGAATGAAGCTCAGCTCCTAATGAGAGTCAGGAACTCTTCCCGAGTCTTTGGATCCTCCCGGAACACACCCAACATTGTGCTGGTCACAGTTTTGCTGTTCATTTTCT... | CACTTTAATATTGCCACAAAAAGGTGGCAAGAAGAAAGTAGAGGGCTCAACCCTTTATTATATTTATTTGACTTCCTAGAAATAATTTTAAATATAATTAGTGACAAGGAATAAAGTTCACATCTGTAACAATTGAAAATGGAATGTACAAACAAGACCGGACAGACAGACAATGCTACTGGCAGTACGATCGGCAACCAACGCACACACACTGAATGAAGCTCAGCTCCTAATGAGAGTCAGGAACTCTTCCCGAGTCTTTGGATCCTCCCGGAACACACCCAACATTGTGCTGGTCACAGTTTTGCTGTTCATTTTCT... |
Task1_train_19801 | With a mutation on Chromosome 14 in gene GCH1 (GTP cyclohydrolase 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Dystonia 5 | CACTTTAATATTGCCACAAAAAGGTGGCAAGAAGAAAGTAGAGGGCTCAACCCTTTATTATATTTATTTGACTTCCTAGAAATAATTTTAAATATAATTAGTGACAAGGAATAAAGTTCACATCTGTAACAATTGAAAATGGAATGTACAAACAAGACCGGACAGACAGACAATGCTACTGGCAGTACGATCGGCAACCAACGCACACACACTGAATGAAGCTCAGCTCCTAATGAGAGTCAGGAACTCTTCCCGAGTCTTTGGATCCTCCCGGAACACACCCAACATTGTGCTGGTCACAGTTTTGCTGTTCATTTTCT... | CACTTTAATATTGCCACAAAAAGGTGGCAAGAAGAAAGTAGAGGGCTCAACCCTTTATTATATTTATTTGACTTCCTAGAAATAATTTTAAATATAATTAGTGACAAGGAATAAAGTTCACATCTGTAACAATTGAAAATGGAATGTACAAACAAGACCGGACAGACAGACAATGCTACTGGCAGTACGATCGGCAACCAACGCACACACACTGAATGAAGCTCAGCTCCTAATGAGAGTCAGGAACTCTTCCCGAGTCTTTGGATCCTCCCGGAACACACCCAACATTGTGCTGGTCACAGTTTTGCTGTTCATTTTCT... |
Task1_train_19802 | This variant affects gene GCH1 (GTP cyclohydrolase 1) located on Chromosome 14. Evaluate its biological effect and specify any disease association. | Pathogenic; Dystonia 5 | AGTCCCAGCTACTCAGGAGGCTGAGGTGAGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCACACCACTGCAATCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCATGCACATGTACTCCAAAAAAGTATTGACAGCAGTATTGTTTGTAATAGCAAAAAAAAAAAAAAAAAAAAAAGAGGCAACAATACAAAGGTCCACCAAGAGCAGAATAGATAAATTGTGGTATATTTGTACAATGGAATAAGATATAACAATGAAAATAAACTACAATGAC... | AGTCCCAGCTACTCAGGAGGCTGAGGTGAGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCACACCACTGCAATCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCATGCACATGTACTCCAAAAAAGTATTGACAGCAGTATTGTTTGTAATAGCAAAAAAAAAAAAAAAAAAAAAAGAGGCAACAATACAAAGGTCCACCAAGAGCAGAATAGATAAATTGTGGTATATTTGTACAATGGAATAAGATATAACAATGAAAATAAACTACAATGAC... |
Task1_train_19803 | This sequence change occurs on Chromosome 14, altering GCH1 (GTP cyclohydrolase 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Dystonia 5 | GAGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCACACCACTGCAATCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCATGCACATGTACTCCAAAAAAGTATTGACAGCAGTATTGTTTGTAATAGCAAAAAAAAAAAAAAAAAAAAAAGAGGCAACAATACAAAGGTCCACCAAGAGCAGAATAGATAAATTGTGGTATATTTGTACAATGGAATAAGATATAACAATGAAAATAAACTACAATGACAGGCAATGACATCAATGAATCCGACTA... | GAGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCACACCACTGCAATCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCATGCACATGTACTCCAAAAAAGTATTGACAGCAGTATTGTTTGTAATAGCAAAAAAAAAAAAAAAAAAAAAAGAGGCAACAATACAAAGGTCCACCAAGAGCAGAATAGATAAATTGTGGTATATTTGTACAATGGAATAAGATATAACAATGAAAATAAACTACAATGACAGGCAATGACATCAATGAATCCGACTA... |
Task1_train_19804 | Consider a variant on Chromosome 14 in gene GCH1 (GTP cyclohydrolase 1). Determine its clinical classification and disease relevance. | Pathogenic; Dystonia 5 | AGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCACACCACTGCAATCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCATGCACATGTACTCCAAAAAAGTATTGACAGCAGTATTGTTTGTAATAGCAAAAAAAAAAAAAAAAAAAAAAGAGGCAACAATACAAAGGTCCACCAAGAGCAGAATAGATAAATTGTGGTATATTTGTACAATGGAATAAGATATAACAATGAAAATAAACTACAATGACAGGCAATGACATCAATGAATCCGACTATGT... | AGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCACACCACTGCAATCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCATGCACATGTACTCCAAAAAAGTATTGACAGCAGTATTGTTTGTAATAGCAAAAAAAAAAAAAAAAAAAAAAGAGGCAACAATACAAAGGTCCACCAAGAGCAGAATAGATAAATTGTGGTATATTTGTACAATGGAATAAGATATAACAATGAAAATAAACTACAATGACAGGCAATGACATCAATGAATCCGACTATGT... |
Task1_train_19805 | A genomic change on Chromosome 14 affects GCH1 (GTP cyclohydrolase 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; GTP cyclohydrolase I deficiency | TCCTCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCATCACACCCGGCTAATTTTTTTGTATCTTTAGTAGAGACGGGGTTTCGCCATGTTGACCGGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCACCGAGCTCGGCCAACCAGAACAGTTTTCTAATGTGGAATGATGTGTTCTTTGCAGTTATTAATCCTCTTTAAATGAATCTTCGCTCATGAGATATTTCAGCTAACCATTTCTCA... | TCCTCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCATCACACCCGGCTAATTTTTTTGTATCTTTAGTAGAGACGGGGTTTCGCCATGTTGACCGGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCACCGAGCTCGGCCAACCAGAACAGTTTTCTAATGTGGAATGATGTGTTCTTTGCAGTTATTAATCCTCTTTAAATGAATCTTCGCTCATGAGATATTTCAGCTAACCATTTCTCA... |
Task1_train_19806 | Chromosome 14 houses a mutation in gene GCH1 (GTP cyclohydrolase 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Dystonia 5 | TCCTCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCATCACACCCGGCTAATTTTTTTGTATCTTTAGTAGAGACGGGGTTTCGCCATGTTGACCGGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCACCGAGCTCGGCCAACCAGAACAGTTTTCTAATGTGGAATGATGTGTTCTTTGCAGTTATTAATCCTCTTTAAATGAATCTTCGCTCATGAGATATTTCAGCTAACCATTTCTCA... | TCCTCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCATCACACCCGGCTAATTTTTTTGTATCTTTAGTAGAGACGGGGTTTCGCCATGTTGACCGGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCACCGAGCTCGGCCAACCAGAACAGTTTTCTAATGTGGAATGATGTGTTCTTTGCAGTTATTAATCCTCTTTAAATGAATCTTCGCTCATGAGATATTTCAGCTAACCATTTCTCA... |
Task1_train_19807 | Mutation context: Chromosome 14, Gene GCH1 (GTP cyclohydrolase 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Dystonia 5 | CCTCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCATCACACCCGGCTAATTTTTTTGTATCTTTAGTAGAGACGGGGTTTCGCCATGTTGACCGGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCACCGAGCTCGGCCAACCAGAACAGTTTTCTAATGTGGAATGATGTGTTCTTTGCAGTTATTAATCCTCTTTAAATGAATCTTCGCTCATGAGATATTTCAGCTAACCATTTCTCAA... | CCTCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCATCACACCCGGCTAATTTTTTTGTATCTTTAGTAGAGACGGGGTTTCGCCATGTTGACCGGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCACCGAGCTCGGCCAACCAGAACAGTTTTCTAATGTGGAATGATGTGTTCTTTGCAGTTATTAATCCTCTTTAAATGAATCTTCGCTCATGAGATATTTCAGCTAACCATTTCTCAA... |
Task1_train_19808 | This gene mutation involves GCH1 (GTP cyclohydrolase 1) on Chromosome 14. Is it associated with any clinical condition, or is it benign? | Pathogenic; GTP cyclohydrolase I deficiency | CCTCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCATCACACCCGGCTAATTTTTTTGTATCTTTAGTAGAGACGGGGTTTCGCCATGTTGACCGGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCACCGAGCTCGGCCAACCAGAACAGTTTTCTAATGTGGAATGATGTGTTCTTTGCAGTTATTAATCCTCTTTAAATGAATCTTCGCTCATGAGATATTTCAGCTAACCATTTCTCAA... | CCTCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCATCACACCCGGCTAATTTTTTTGTATCTTTAGTAGAGACGGGGTTTCGCCATGTTGACCGGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCACCGAGCTCGGCCAACCAGAACAGTTTTCTAATGTGGAATGATGTGTTCTTTGCAGTTATTAATCCTCTTTAAATGAATCTTCGCTCATGAGATATTTCAGCTAACCATTTCTCAA... |
Task1_train_19809 | This variant affects the gene GCH1 (GTP cyclohydrolase 1) found on Chromosome 14. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Dystonia 5 | CGCCCGCCATCACACCCGGCTAATTTTTTTGTATCTTTAGTAGAGACGGGGTTTCGCCATGTTGACCGGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCACCGAGCTCGGCCAACCAGAACAGTTTTCTAATGTGGAATGATGTGTTCTTTGCAGTTATTAATCCTCTTTAAATGAATCTTCGCTCATGAGATATTTCAGCTAACCATTTCTCAAGTAAATCTGTGAGTCACTTTAGATAATTCTGTGACCTGTCTCAGGGTCAGAAATTCCTCT... | CGCCCGCCATCACACCCGGCTAATTTTTTTGTATCTTTAGTAGAGACGGGGTTTCGCCATGTTGACCGGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCACCGAGCTCGGCCAACCAGAACAGTTTTCTAATGTGGAATGATGTGTTCTTTGCAGTTATTAATCCTCTTTAAATGAATCTTCGCTCATGAGATATTTCAGCTAACCATTTCTCAAGTAAATCTGTGAGTCACTTTAGATAATTCTGTGACCTGTCTCAGGGTCAGAAATTCCTCT... |
Task1_train_19810 | The gene GCH1, LOC130055692 (GTP cyclohydrolase 1| ATAC-STARR-seq lymphoblastoid silent region 5776) on Chromosome 14 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Dystonia 5 | AGTAAATCTGTGAGTCACTTTAGATAATTCTGTGACCTGTCTCAGGGTCAGAAATTCCTCTCTCTTTGGGTAATTAGATCCATGCTAGATTACAGAACACTGTCCTATGAATTCTCTTTAAGGGAGGATTCCCAAAGCCTGGCCGATGCTGTGAAGTAAACCACTTTCTGTGTCTGCAAGGGGCAAAATGAGTAAGGCCTTAAGAAGACATTTCATTACATTGTGAAATATCTCACACACACACACACACACACACACACACACACACACACACACAAATTTAAAGCCCTAGACCTCCAAAGAGCTGATCCCACAGAAAA... | AGTAAATCTGTGAGTCACTTTAGATAATTCTGTGACCTGTCTCAGGGTCAGAAATTCCTCTCTCTTTGGGTAATTAGATCCATGCTAGATTACAGAACACTGTCCTATGAATTCTCTTTAAGGGAGGATTCCCAAAGCCTGGCCGATGCTGTGAAGTAAACCACTTTCTGTGTCTGCAAGGGGCAAAATGAGTAAGGCCTTAAGAAGACATTTCATTACATTGTGAAATATCTCACACACACACACACACACACACACACACACACACACACACACAAATTTAAAGCCCTAGACCTCCAAAGAGCTGATCCCACAGAAAA... |
Task1_train_19811 | This mutation occurs in GCH1, LOC130055692 (GTP cyclohydrolase 1| ATAC-STARR-seq lymphoblastoid silent region 5776) on Chromosome 14. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Dystonia 5 | TAAATCTGTGAGTCACTTTAGATAATTCTGTGACCTGTCTCAGGGTCAGAAATTCCTCTCTCTTTGGGTAATTAGATCCATGCTAGATTACAGAACACTGTCCTATGAATTCTCTTTAAGGGAGGATTCCCAAAGCCTGGCCGATGCTGTGAAGTAAACCACTTTCTGTGTCTGCAAGGGGCAAAATGAGTAAGGCCTTAAGAAGACATTTCATTACATTGTGAAATATCTCACACACACACACACACACACACACACACACACACACACACACAAATTTAAAGCCCTAGACCTCCAAAGAGCTGATCCCACAGAAAACT... | TAAATCTGTGAGTCACTTTAGATAATTCTGTGACCTGTCTCAGGGTCAGAAATTCCTCTCTCTTTGGGTAATTAGATCCATGCTAGATTACAGAACACTGTCCTATGAATTCTCTTTAAGGGAGGATTCCCAAAGCCTGGCCGATGCTGTGAAGTAAACCACTTTCTGTGTCTGCAAGGGGCAAAATGAGTAAGGCCTTAAGAAGACATTTCATTACATTGTGAAATATCTCACACACACACACACACACACACACACACACACACACACACACAAATTTAAAGCCCTAGACCTCCAAAGAGCTGATCCCACAGAAAACT... |
Task1_train_19812 | This alteration occurs within gene GCH1, LOC130055692 (GTP cyclohydrolase 1| ATAC-STARR-seq lymphoblastoid silent region 5776) located on Chromosome 14. Is it associated with a disease or is it a benign variant? | Pathogenic; GTP cyclohydrolase I deficiency | TAAATCTGTGAGTCACTTTAGATAATTCTGTGACCTGTCTCAGGGTCAGAAATTCCTCTCTCTTTGGGTAATTAGATCCATGCTAGATTACAGAACACTGTCCTATGAATTCTCTTTAAGGGAGGATTCCCAAAGCCTGGCCGATGCTGTGAAGTAAACCACTTTCTGTGTCTGCAAGGGGCAAAATGAGTAAGGCCTTAAGAAGACATTTCATTACATTGTGAAATATCTCACACACACACACACACACACACACACACACACACACACACACAAATTTAAAGCCCTAGACCTCCAAAGAGCTGATCCCACAGAAAACT... | TAAATCTGTGAGTCACTTTAGATAATTCTGTGACCTGTCTCAGGGTCAGAAATTCCTCTCTCTTTGGGTAATTAGATCCATGCTAGATTACAGAACACTGTCCTATGAATTCTCTTTAAGGGAGGATTCCCAAAGCCTGGCCGATGCTGTGAAGTAAACCACTTTCTGTGTCTGCAAGGGGCAAAATGAGTAAGGCCTTAAGAAGACATTTCATTACATTGTGAAATATCTCACACACACACACACACACACACACACACACACACACACACACAAATTTAAAGCCCTAGACCTCCAAAGAGCTGATCCCACAGAAAACT... |
Task1_train_19813 | This genomic variant is located on Chromosome 14, within the GCH1, LOC130055692 (GTP cyclohydrolase 1| ATAC-STARR-seq lymphoblastoid silent region 5776) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; GTP cyclohydrolase I deficiency | TAAATCTGTGAGTCACTTTAGATAATTCTGTGACCTGTCTCAGGGTCAGAAATTCCTCTCTCTTTGGGTAATTAGATCCATGCTAGATTACAGAACACTGTCCTATGAATTCTCTTTAAGGGAGGATTCCCAAAGCCTGGCCGATGCTGTGAAGTAAACCACTTTCTGTGTCTGCAAGGGGCAAAATGAGTAAGGCCTTAAGAAGACATTTCATTACATTGTGAAATATCTCACACACACACACACACACACACACACACACACACACACACACAAATTTAAAGCCCTAGACCTCCAAAGAGCTGATCCCACAGAAAACT... | TAAATCTGTGAGTCACTTTAGATAATTCTGTGACCTGTCTCAGGGTCAGAAATTCCTCTCTCTTTGGGTAATTAGATCCATGCTAGATTACAGAACACTGTCCTATGAATTCTCTTTAAGGGAGGATTCCCAAAGCCTGGCCGATGCTGTGAAGTAAACCACTTTCTGTGTCTGCAAGGGGCAAAATGAGTAAGGCCTTAAGAAGACATTTCATTACATTGTGAAATATCTCACACACACACACACACACACACACACACACACACACACACACAAATTTAAAGCCCTAGACCTCCAAAGAGCTGATCCCACAGAAAACT... |
Task1_train_19814 | This is a variant in GCH1, LOC130055692 (GTP cyclohydrolase 1| ATAC-STARR-seq lymphoblastoid silent region 5776), located on Chromosome 14. Is this mutation a likely cause of disease or not? | Pathogenic; Dystonia 5 | TAAATCTGTGAGTCACTTTAGATAATTCTGTGACCTGTCTCAGGGTCAGAAATTCCTCTCTCTTTGGGTAATTAGATCCATGCTAGATTACAGAACACTGTCCTATGAATTCTCTTTAAGGGAGGATTCCCAAAGCCTGGCCGATGCTGTGAAGTAAACCACTTTCTGTGTCTGCAAGGGGCAAAATGAGTAAGGCCTTAAGAAGACATTTCATTACATTGTGAAATATCTCACACACACACACACACACACACACACACACACACACACACACAAATTTAAAGCCCTAGACCTCCAAAGAGCTGATCCCACAGAAAACT... | TAAATCTGTGAGTCACTTTAGATAATTCTGTGACCTGTCTCAGGGTCAGAAATTCCTCTCTCTTTGGGTAATTAGATCCATGCTAGATTACAGAACACTGTCCTATGAATTCTCTTTAAGGGAGGATTCCCAAAGCCTGGCCGATGCTGTGAAGTAAACCACTTTCTGTGTCTGCAAGGGGCAAAATGAGTAAGGCCTTAAGAAGACATTTCATTACATTGTGAAATATCTCACACACACACACACACACACACACACACACACACACACACACAAATTTAAAGCCCTAGACCTCCAAAGAGCTGATCCCACAGAAAACT... |
Task1_train_19815 | This mutation occurs in GCH1, LOC130055692 (GTP cyclohydrolase 1| ATAC-STARR-seq lymphoblastoid silent region 5776) on Chromosome 14. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Dystonia 5 | TAAATCTGTGAGTCACTTTAGATAATTCTGTGACCTGTCTCAGGGTCAGAAATTCCTCTCTCTTTGGGTAATTAGATCCATGCTAGATTACAGAACACTGTCCTATGAATTCTCTTTAAGGGAGGATTCCCAAAGCCTGGCCGATGCTGTGAAGTAAACCACTTTCTGTGTCTGCAAGGGGCAAAATGAGTAAGGCCTTAAGAAGACATTTCATTACATTGTGAAATATCTCACACACACACACACACACACACACACACACACACACACACACAAATTTAAAGCCCTAGACCTCCAAAGAGCTGATCCCACAGAAAACT... | TAAATCTGTGAGTCACTTTAGATAATTCTGTGACCTGTCTCAGGGTCAGAAATTCCTCTCTCTTTGGGTAATTAGATCCATGCTAGATTACAGAACACTGTCCTATGAATTCTCTTTAAGGGAGGATTCCCAAAGCCTGGCCGATGCTGTGAAGTAAACCACTTTCTGTGTCTGCAAGGGGCAAAATGAGTAAGGCCTTAAGAAGACATTTCATTACATTGTGAAATATCTCACACACACACACACACACACACACACACACACACACACACACAAATTTAAAGCCCTAGACCTCCAAAGAGCTGATCCCACAGAAAACT... |
Task1_train_19816 | A variant was discovered on Chromosome 14, affecting GCH1, LOC130055692 (GTP cyclohydrolase 1| ATAC-STARR-seq lymphoblastoid silent region 5776). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; GTP cyclohydrolase I deficiency | TAAATCTGTGAGTCACTTTAGATAATTCTGTGACCTGTCTCAGGGTCAGAAATTCCTCTCTCTTTGGGTAATTAGATCCATGCTAGATTACAGAACACTGTCCTATGAATTCTCTTTAAGGGAGGATTCCCAAAGCCTGGCCGATGCTGTGAAGTAAACCACTTTCTGTGTCTGCAAGGGGCAAAATGAGTAAGGCCTTAAGAAGACATTTCATTACATTGTGAAATATCTCACACACACACACACACACACACACACACACACACACACACACAAATTTAAAGCCCTAGACCTCCAAAGAGCTGATCCCACAGAAAACT... | TAAATCTGTGAGTCACTTTAGATAATTCTGTGACCTGTCTCAGGGTCAGAAATTCCTCTCTCTTTGGGTAATTAGATCCATGCTAGATTACAGAACACTGTCCTATGAATTCTCTTTAAGGGAGGATTCCCAAAGCCTGGCCGATGCTGTGAAGTAAACCACTTTCTGTGTCTGCAAGGGGCAAAATGAGTAAGGCCTTAAGAAGACATTTCATTACATTGTGAAATATCTCACACACACACACACACACACACACACACACACACACACACACAAATTTAAAGCCCTAGACCTCCAAAGAGCTGATCCCACAGAAAACT... |
Task1_train_19817 | Chromosome 14 houses a mutation in gene TMEM260 (transmembrane protein 260). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Structural heart defects and renal anomalies syndrome | ATAAGCCTAGAAAAGGGACCTTGAAACCATAGAAAGCTTGAACGTCATGCTGAGGAATCTGAACTTCGTTCAGTAAGCAGAGAGCAGCCATTGAGAAATTTTAGACTAGGGATGCAATCCAGCCTTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTTTAGGGGCATGGGGGAAGGCAGGTGTTGATTATAAGTGATTTCAGTATGAAGATGAATTGAAGTAGGATTGGTCAAGTCTGTTGCCATAGTCCAGGCCAGAGAGAGTAAAGGTCTAAATTGTAGCTGGGACAGAAATTAAATGCAGAGTA... | ATAAGCCTAGAAAAGGGACCTTGAAACCATAGAAAGCTTGAACGTCATGCTGAGGAATCTGAACTTCGTTCAGTAAGCAGAGAGCAGCCATTGAGAAATTTTAGACTAGGGATGCAATCCAGCCTTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTTTAGGGGCATGGGGGAAGGCAGGTGTTGATTATAAGTGATTTCAGTATGAAGATGAATTGAAGTAGGATTGGTCAAGTCTGTTGCCATAGTCCAGGCCAGAGAGAGTAAAGGTCTAAATTGTAGCTGGGACAGAAATTAAATGCAGAGTA... |
Task1_train_19818 | This mutation occurs in OTX2 (orthodenticle homeobox 2) on Chromosome 14. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Pituitary hormone deficiency, combined, 6 | ATGAAATAGCCAGAAAACAAAATGGTTGCAACTGCTAACCTTCATTTAAAACGTTACAATCAAGAGTCACTTAATTTTGGTCAGCTGTAAGAGCTTAAGCAGCTTAAAATGAAATTAAATATTGCTTTTACCTGAGGAGCACCATGATCATTGGCCCATTTGTCTTTTCTGGTGACTGGTTTACAAAATGCAGGTACAACTGAAAAGGGACCCATTTTTTCCCCCTCGGCACTTTCTTAAACACATACACACAAACTGACCAGGGTGCCTTATGTTCAACTACTGAAATTATAGGTTTTAAAACTTTTCTGAAACTCTTT... | ATGAAATAGCCAGAAAACAAAATGGTTGCAACTGCTAACCTTCATTTAAAACGTTACAATCAAGAGTCACTTAATTTTGGTCAGCTGTAAGAGCTTAAGCAGCTTAAAATGAAATTAAATATTGCTTTTACCTGAGGAGCACCATGATCATTGGCCCATTTGTCTTTTCTGGTGACTGGTTTACAAAATGCAGGTACAACTGAAAAGGGACCCATTTTTTCCCCCTCGGCACTTTCTTAAACACATACACACAAACTGACCAGGGTGCCTTATGTTCAACTACTGAAATTATAGGTTTTAAAACTTTTCTGAAACTCTTT... |
Task1_train_19819 | The variant affects gene OTX2 (orthodenticle homeobox 2), which is on Chromosome 14. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Anophthalmia | AAAAAAAAAAATCCCCTTAATCAAATAAGAGAATAGTAACAAGAAATTCTTGTCATTCTCATGTTTTCAGAGATACTCCAATTCTCCTCCTCCCTCTTAAAAACTTGATATATTTTAAAACATTCTAATAAAGTGCCTAAGAAATCGTTCAGGTTTGAAGTAGGGAGGGAAAAGCAAGGAAAACAAGATCTTGTTGTTAGGCTCTCCAAACTCAATTTCAGAGCAATCCTGATGAAAGTCACAAAAAGTCTACCTACCACTGTCATTCATATCTATTTTATGCATAGATTAGCAAAAAAAAAAAGTAAAAATAAGTTTGC... | AAAAAAAAAAATCCCCTTAATCAAATAAGAGAATAGTAACAAGAAATTCTTGTCATTCTCATGTTTTCAGAGATACTCCAATTCTCCTCCTCCCTCTTAAAAACTTGATATATTTTAAAACATTCTAATAAAGTGCCTAAGAAATCGTTCAGGTTTGAAGTAGGGAGGGAAAAGCAAGGAAAACAAGATCTTGTTGTTAGGCTCTCCAAACTCAATTTCAGAGCAATCCTGATGAAAGTCACAAAAAGTCTACCTACCACTGTCATTCATATCTATTTTATGCATAGATTAGCAAAAAAAAAAAGTAAAAATAAGTTTGC... |
Task1_train_19820 | Gene OTX2 (orthodenticle homeobox 2), found on Chromosome 14, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Syndromic microphthalmia type 5 | AAAAAAAAATCCCCTTAATCAAATAAGAGAATAGTAACAAGAAATTCTTGTCATTCTCATGTTTTCAGAGATACTCCAATTCTCCTCCTCCCTCTTAAAAACTTGATATATTTTAAAACATTCTAATAAAGTGCCTAAGAAATCGTTCAGGTTTGAAGTAGGGAGGGAAAAGCAAGGAAAACAAGATCTTGTTGTTAGGCTCTCCAAACTCAATTTCAGAGCAATCCTGATGAAAGTCACAAAAAGTCTACCTACCACTGTCATTCATATCTATTTTATGCATAGATTAGCAAAAAAAAAAAGTAAAAATAAGTTTGCTA... | AAAAAAAAATCCCCTTAATCAAATAAGAGAATAGTAACAAGAAATTCTTGTCATTCTCATGTTTTCAGAGATACTCCAATTCTCCTCCTCCCTCTTAAAAACTTGATATATTTTAAAACATTCTAATAAAGTGCCTAAGAAATCGTTCAGGTTTGAAGTAGGGAGGGAAAAGCAAGGAAAACAAGATCTTGTTGTTAGGCTCTCCAAACTCAATTTCAGAGCAATCCTGATGAAAGTCACAAAAAGTCTACCTACCACTGTCATTCATATCTATTTTATGCATAGATTAGCAAAAAAAAAAAGTAAAAATAAGTTTGCTA... |
Task1_train_19821 | Mutation context: Chromosome 14, Gene OTX2 (orthodenticle homeobox 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Syndromic microphthalmia type 5 | AAAATCCCCTTAATCAAATAAGAGAATAGTAACAAGAAATTCTTGTCATTCTCATGTTTTCAGAGATACTCCAATTCTCCTCCTCCCTCTTAAAAACTTGATATATTTTAAAACATTCTAATAAAGTGCCTAAGAAATCGTTCAGGTTTGAAGTAGGGAGGGAAAAGCAAGGAAAACAAGATCTTGTTGTTAGGCTCTCCAAACTCAATTTCAGAGCAATCCTGATGAAAGTCACAAAAAGTCTACCTACCACTGTCATTCATATCTATTTTATGCATAGATTAGCAAAAAAAAAAAGTAAAAATAAGTTTGCTAATTTA... | AAAATCCCCTTAATCAAATAAGAGAATAGTAACAAGAAATTCTTGTCATTCTCATGTTTTCAGAGATACTCCAATTCTCCTCCTCCCTCTTAAAAACTTGATATATTTTAAAACATTCTAATAAAGTGCCTAAGAAATCGTTCAGGTTTGAAGTAGGGAGGGAAAAGCAAGGAAAACAAGATCTTGTTGTTAGGCTCTCCAAACTCAATTTCAGAGCAATCCTGATGAAAGTCACAAAAAGTCTACCTACCACTGTCATTCATATCTATTTTATGCATAGATTAGCAAAAAAAAAAAGTAAAAATAAGTTTGCTAATTTA... |
Task1_train_19822 | A variant affecting Chromosome 14, within the gene KIAA0586 (KIAA0586), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Joubert syndrome 23 | TCTAGATTCCTAGGAATATGTTGGAGCTTTTCAAAACTCCACTTTGGACATTTCATTGCCTAGATTTTTAACATTTGTTGACCACAATCTTGTTTGCCCCAACTAGTGTCACTACCTCACGCTGCTGAGATGTTAAACAATTGCCACCGTTTTTTGAAAAATGCCCTGGGGATACTTTCTCGCTGAGCTAGCAGTGAGTCAGTTCAAATAAAGACAAACACTATGAATGAGACTTTTAGGAGAGCTTGAAACCATTCTACTGTCTTTAGTGGTTGTGAGGCTGTTGGTTTTCGAGGCCGCCACAGAGTTGGGAATAGGGT... | TCTAGATTCCTAGGAATATGTTGGAGCTTTTCAAAACTCCACTTTGGACATTTCATTGCCTAGATTTTTAACATTTGTTGACCACAATCTTGTTTGCCCCAACTAGTGTCACTACCTCACGCTGCTGAGATGTTAAACAATTGCCACCGTTTTTTGAAAAATGCCCTGGGGATACTTTCTCGCTGAGCTAGCAGTGAGTCAGTTCAAATAAAGACAAACACTATGAATGAGACTTTTAGGAGAGCTTGAAACCATTCTACTGTCTTTAGTGGTTGTGAGGCTGTTGGTTTTCGAGGCCGCCACAGAGTTGGGAATAGGGT... |
Task1_train_19823 | A variant has been detected on Chromosome 14 in DACT1 (dishevelled binding antagonist of beta catenin 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Townes-Brocks syndrome 2 | GAATTCTTTATCCTATTAAAAAAACATTTTTGACAAGTGGGAAATTTATCCATTAATACTACCACTCAATCTTTTAAAATCTTATCAAGAATTCTTTATCATATTAAAAAAGTTTTTTTAAATTAAAAATTTTGTTGTAGAGAGATGGAGTCTCACTGTTGCCCAGGCTGGTCTCGAACTCCTGGGCCTAAGCGATCCTCTGGCCTCAGCCTTTTGGTGTTAGGATTGCAGGCGTGAGCCATCATACCTGGCCCCTGTTTTATTTTTTTAGCATCACTATTGAAAACATAAGGCGATTATTATTTAAATCTGATCAGTTT... | GAATTCTTTATCCTATTAAAAAAACATTTTTGACAAGTGGGAAATTTATCCATTAATACTACCACTCAATCTTTTAAAATCTTATCAAGAATTCTTTATCATATTAAAAAAGTTTTTTTAAATTAAAAATTTTGTTGTAGAGAGATGGAGTCTCACTGTTGCCCAGGCTGGTCTCGAACTCCTGGGCCTAAGCGATCCTCTGGCCTCAGCCTTTTGGTGTTAGGATTGCAGGCGTGAGCCATCATACCTGGCCCCTGTTTTATTTTTTTAGCATCACTATTGAAAACATAAGGCGATTATTATTTAAATCTGATCAGTTT... |
Task1_train_19824 | A change on Chromosome 14 affects gene DACT1 (dishevelled binding antagonist of beta catenin 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Townes-Brocks syndrome 2 | ATCTTTTAAAATCTTATCAAGAATTCTTTATCATATTAAAAAAGTTTTTTTAAATTAAAAATTTTGTTGTAGAGAGATGGAGTCTCACTGTTGCCCAGGCTGGTCTCGAACTCCTGGGCCTAAGCGATCCTCTGGCCTCAGCCTTTTGGTGTTAGGATTGCAGGCGTGAGCCATCATACCTGGCCCCTGTTTTATTTTTTTAGCATCACTATTGAAAACATAAGGCGATTATTATTTAAATCTGATCAGTTTTTACTGAAGTTTGATCAGTTTCCATCACCTTTCAATTGACAGTTATATTTGAATGGATGTCATTAAGA... | ATCTTTTAAAATCTTATCAAGAATTCTTTATCATATTAAAAAAGTTTTTTTAAATTAAAAATTTTGTTGTAGAGAGATGGAGTCTCACTGTTGCCCAGGCTGGTCTCGAACTCCTGGGCCTAAGCGATCCTCTGGCCTCAGCCTTTTGGTGTTAGGATTGCAGGCGTGAGCCATCATACCTGGCCCCTGTTTTATTTTTTTAGCATCACTATTGAAAACATAAGGCGATTATTATTTAAATCTGATCAGTTTTTACTGAAGTTTGATCAGTTTCCATCACCTTTCAATTGACAGTTATATTTGAATGGATGTCATTAAGA... |
Task1_train_19825 | This is a variant in DACT1 (dishevelled binding antagonist of beta catenin 1), located on Chromosome 14. Is this mutation a likely cause of disease or not? | Pathogenic; Townes-Brocks syndrome 2 | CTAAGCGATCCTCTGGCCTCAGCCTTTTGGTGTTAGGATTGCAGGCGTGAGCCATCATACCTGGCCCCTGTTTTATTTTTTTAGCATCACTATTGAAAACATAAGGCGATTATTATTTAAATCTGATCAGTTTTTACTGAAGTTTGATCAGTTTCCATCACCTTTCAATTGACAGTTATATTTGAATGGATGTCATTAAGAATTAGGTTTAAAAAAACACAAAATGAGGAGAAAGCCTACTGAACGTACAGTTTATCCTAAAGAAAGCCAGGAATAGAACAGAGGGGAGAGCAGCCTAGAGAAACAGTGATTCAAAAAAT... | CTAAGCGATCCTCTGGCCTCAGCCTTTTGGTGTTAGGATTGCAGGCGTGAGCCATCATACCTGGCCCCTGTTTTATTTTTTTAGCATCACTATTGAAAACATAAGGCGATTATTATTTAAATCTGATCAGTTTTTACTGAAGTTTGATCAGTTTCCATCACCTTTCAATTGACAGTTATATTTGAATGGATGTCATTAAGAATTAGGTTTAAAAAAACACAAAATGAGGAGAAAGCCTACTGAACGTACAGTTTATCCTAAAGAAAGCCAGGAATAGAACAGAGGGGAGAGCAGCCTAGAGAAACAGTGATTCAAAAAAT... |
Task1_train_19826 | An alteration has been detected in DACT1 (dishevelled binding antagonist of beta catenin 1) on Chromosome 14. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Townes-Brocks syndrome 2 | TTTCCTTCAGAGGATATATCATATGCTGTCAAAAATTTTTGTTAAATATTTCCCCCTCATCCAGTAGCAGTACCTACATGTGAAATGGTAGGGCAGCACTTTTTAATCCTTGGCAATCTCTTTTTACCCATGGATTTTTCATAAAAATTGGCCAAAGAGTCAAGCTGGTGCTGACCAATTCATTTCTTCAGAGTGTACCTTTAACTGTTTTTCAGATCTCATAGGATTGTTGGAATATAAAGAAGGCCACTGTGAAGACCAGGCCTCAGGGGCAGTTTGCCGTTCCCTCTCCACACCACAATTTAATTCCCTTGATGTCA... | TTTCCTTCAGAGGATATATCATATGCTGTCAAAAATTTTTGTTAAATATTTCCCCCTCATCCAGTAGCAGTACCTACATGTGAAATGGTAGGGCAGCACTTTTTAATCCTTGGCAATCTCTTTTTACCCATGGATTTTTCATAAAAATTGGCCAAAGAGTCAAGCTGGTGCTGACCAATTCATTTCTTCAGAGTGTACCTTTAACTGTTTTTCAGATCTCATAGGATTGTTGGAATATAAAGAAGGCCACTGTGAAGACCAGGCCTCAGGGGCAGTTTGCCGTTCCCTCTCCACACCACAATTTAATTCCCTTGATGTCA... |
Task1_train_19827 | Gene C14orf39, SIX6 (chromosome 14 open reading frame 39| SIX homeobox 6) on Chromosome 14 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome | TTGCCCCTGCCTTGTCGTATTTCAAGAAAATGAACTCTTAGAAAAGAAAGCCTCTCCGTTGAGGCGGTTGGCAATCTCACAGAAATGATGTAAATGGTTTCAGGGCTTTTTTCTTCCCCTCTGCTATTTTTTTCGAGTGAACTGTGAAGATCTGTGAAAATAATATCAGGGTTTTCCGTCAGAACGAGCTTTGCCCTGCACTCAGGCGTGGCGTGATCTGACCCGACACCTCCAACCATCTGTGCTATCTATCTGCCTTCTGATTTACCAGATCTGTACAAGCCGCATACAAATTGTACTTGATACTAAAGAAAAGACAG... | TTGCCCCTGCCTTGTCGTATTTCAAGAAAATGAACTCTTAGAAAAGAAAGCCTCTCCGTTGAGGCGGTTGGCAATCTCACAGAAATGATGTAAATGGTTTCAGGGCTTTTTTCTTCCCCTCTGCTATTTTTTTCGAGTGAACTGTGAAGATCTGTGAAAATAATATCAGGGTTTTCCGTCAGAACGAGCTTTGCCCTGCACTCAGGCGTGGCGTGATCTGACCCGACACCTCCAACCATCTGTGCTATCTATCTGCCTTCTGATTTACCAGATCTGTACAAGCCGCATACAAATTGTACTTGATACTAAAGAAAAGACAG... |
Task1_train_19828 | A variant on Chromosome 14 in gene C14orf39, SIX6 (chromosome 14 open reading frame 39| SIX homeobox 6) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Nystagmus | TCAAACTAAACAAACCCCTACCACAGGCCCAGATGAGATCATGGTTTCTTTGACCCAGGCCTCAGAAAATGGTATGATGTGGACTGCCAATTGGGAATCAATAAAAGTTGCCAATTCACTCCACTAGCCCAAAGTCAGAGCCACCAAGCCACTCCTTCCTCACTACAGGAGGGGTCAATAATCAGCGGCTTAGGAAGTGCTTTCTGGGCCCCCGCATTGTCGTGGATGCCCTTCTGTATTGTATTTTTACTGAATTGTTTTTGAGCTAAAATGCCAAGGTTAGAGTTGTTATCCCCAGCTCAAGAGGTATAAGTTCTAAC... | TCAAACTAAACAAACCCCTACCACAGGCCCAGATGAGATCATGGTTTCTTTGACCCAGGCCTCAGAAAATGGTATGATGTGGACTGCCAATTGGGAATCAATAAAAGTTGCCAATTCACTCCACTAGCCCAAAGTCAGAGCCACCAAGCCACTCCTTCCTCACTACAGGAGGGGTCAATAATCAGCGGCTTAGGAAGTGCTTTCTGGGCCCCCGCATTGTCGTGGATGCCCTTCTGTATTGTATTTTTACTGAATTGTTTTTGAGCTAAAATGCCAAGGTTAGAGTTGTTATCCCCAGCTCAAGAGGTATAAGTTCTAAC... |
Task1_train_19829 | An alteration has been detected in C14orf39, SIX6 (chromosome 14 open reading frame 39| SIX homeobox 6) on Chromosome 14. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Microcornea | TCAAACTAAACAAACCCCTACCACAGGCCCAGATGAGATCATGGTTTCTTTGACCCAGGCCTCAGAAAATGGTATGATGTGGACTGCCAATTGGGAATCAATAAAAGTTGCCAATTCACTCCACTAGCCCAAAGTCAGAGCCACCAAGCCACTCCTTCCTCACTACAGGAGGGGTCAATAATCAGCGGCTTAGGAAGTGCTTTCTGGGCCCCCGCATTGTCGTGGATGCCCTTCTGTATTGTATTTTTACTGAATTGTTTTTGAGCTAAAATGCCAAGGTTAGAGTTGTTATCCCCAGCTCAAGAGGTATAAGTTCTAAC... | TCAAACTAAACAAACCCCTACCACAGGCCCAGATGAGATCATGGTTTCTTTGACCCAGGCCTCAGAAAATGGTATGATGTGGACTGCCAATTGGGAATCAATAAAAGTTGCCAATTCACTCCACTAGCCCAAAGTCAGAGCCACCAAGCCACTCCTTCCTCACTACAGGAGGGGTCAATAATCAGCGGCTTAGGAAGTGCTTTCTGGGCCCCCGCATTGTCGTGGATGCCCTTCTGTATTGTATTTTTACTGAATTGTTTTTGAGCTAAAATGCCAAGGTTAGAGTTGTTATCCCCAGCTCAAGAGGTATAAGTTCTAAC... |
Task1_train_19830 | Gene C14orf39, SIX6 (chromosome 14 open reading frame 39| SIX homeobox 6), found on Chromosome 14, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Developmental cataract | TCAAACTAAACAAACCCCTACCACAGGCCCAGATGAGATCATGGTTTCTTTGACCCAGGCCTCAGAAAATGGTATGATGTGGACTGCCAATTGGGAATCAATAAAAGTTGCCAATTCACTCCACTAGCCCAAAGTCAGAGCCACCAAGCCACTCCTTCCTCACTACAGGAGGGGTCAATAATCAGCGGCTTAGGAAGTGCTTTCTGGGCCCCCGCATTGTCGTGGATGCCCTTCTGTATTGTATTTTTACTGAATTGTTTTTGAGCTAAAATGCCAAGGTTAGAGTTGTTATCCCCAGCTCAAGAGGTATAAGTTCTAAC... | TCAAACTAAACAAACCCCTACCACAGGCCCAGATGAGATCATGGTTTCTTTGACCCAGGCCTCAGAAAATGGTATGATGTGGACTGCCAATTGGGAATCAATAAAAGTTGCCAATTCACTCCACTAGCCCAAAGTCAGAGCCACCAAGCCACTCCTTCCTCACTACAGGAGGGGTCAATAATCAGCGGCTTAGGAAGTGCTTTCTGGGCCCCCGCATTGTCGTGGATGCCCTTCTGTATTGTATTTTTACTGAATTGTTTTTGAGCTAAAATGCCAAGGTTAGAGTTGTTATCCCCAGCTCAAGAGGTATAAGTTCTAAC... |
Task1_train_19831 | A variant affecting Chromosome 14, within the gene C14orf39, SIX6 (chromosome 14 open reading frame 39| SIX homeobox 6), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Sclerocornea | TCAAACTAAACAAACCCCTACCACAGGCCCAGATGAGATCATGGTTTCTTTGACCCAGGCCTCAGAAAATGGTATGATGTGGACTGCCAATTGGGAATCAATAAAAGTTGCCAATTCACTCCACTAGCCCAAAGTCAGAGCCACCAAGCCACTCCTTCCTCACTACAGGAGGGGTCAATAATCAGCGGCTTAGGAAGTGCTTTCTGGGCCCCCGCATTGTCGTGGATGCCCTTCTGTATTGTATTTTTACTGAATTGTTTTTGAGCTAAAATGCCAAGGTTAGAGTTGTTATCCCCAGCTCAAGAGGTATAAGTTCTAAC... | TCAAACTAAACAAACCCCTACCACAGGCCCAGATGAGATCATGGTTTCTTTGACCCAGGCCTCAGAAAATGGTATGATGTGGACTGCCAATTGGGAATCAATAAAAGTTGCCAATTCACTCCACTAGCCCAAAGTCAGAGCCACCAAGCCACTCCTTCCTCACTACAGGAGGGGTCAATAATCAGCGGCTTAGGAAGTGCTTTCTGGGCCCCCGCATTGTCGTGGATGCCCTTCTGTATTGTATTTTTACTGAATTGTTTTTGAGCTAAAATGCCAAGGTTAGAGTTGTTATCCCCAGCTCAAGAGGTATAAGTTCTAAC... |
Task1_train_19832 | A sequence alteration has been identified in SIX1 (SIX homeobox 1) on Chromosome 14. Is it disease-inducing or harmless? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 23 | GGGTAATGGGGGAGGTGAGGAGTCAGAGGAACCTGGAGAAATGGAGAGCTACGGACAGAGCCTCCTGTTAGGAGCCAGGTCCTTTTCTCTTCCAGATTTCAGAAAGTGATAGATTAGCAGGATTTATTTGAAACATACAAAATATATGTTTTAAATTTTGTTCAAGCAGTTACATTTAAATACATATAAACTAGCAACATATTTAAATGTAACTGAAAATCTTTCAATAAATAGATATTGGTGATAAAGAAATGATAGAGGACAGAGTCCAATGCACAAATGTTTGGGGTGAATCAAGTCCATTGCCTTGTTCGCATATG... | GGGTAATGGGGGAGGTGAGGAGTCAGAGGAACCTGGAGAAATGGAGAGCTACGGACAGAGCCTCCTGTTAGGAGCCAGGTCCTTTTCTCTTCCAGATTTCAGAAAGTGATAGATTAGCAGGATTTATTTGAAACATACAAAATATATGTTTTAAATTTTGTTCAAGCAGTTACATTTAAATACATATAAACTAGCAACATATTTAAATGTAACTGAAAATCTTTCAATAAATAGATATTGGTGATAAAGAAATGATAGAGGACAGAGTCCAATGCACAAATGTTTGGGGTGAATCAAGTCCATTGCCTTGTTCGCATATG... |
Task1_train_19833 | This alteration occurs within gene SIX1 (SIX homeobox 1) located on Chromosome 14. Is it associated with a disease or is it a benign variant? | Pathogenic; Branchiootic syndrome 3 | GGAGGTGAGGAGTCAGAGGAACCTGGAGAAATGGAGAGCTACGGACAGAGCCTCCTGTTAGGAGCCAGGTCCTTTTCTCTTCCAGATTTCAGAAAGTGATAGATTAGCAGGATTTATTTGAAACATACAAAATATATGTTTTAAATTTTGTTCAAGCAGTTACATTTAAATACATATAAACTAGCAACATATTTAAATGTAACTGAAAATCTTTCAATAAATAGATATTGGTGATAAAGAAATGATAGAGGACAGAGTCCAATGCACAAATGTTTGGGGTGAATCAAGTCCATTGCCTTGTTCGCATATGAGGAGACAAT... | GGAGGTGAGGAGTCAGAGGAACCTGGAGAAATGGAGAGCTACGGACAGAGCCTCCTGTTAGGAGCCAGGTCCTTTTCTCTTCCAGATTTCAGAAAGTGATAGATTAGCAGGATTTATTTGAAACATACAAAATATATGTTTTAAATTTTGTTCAAGCAGTTACATTTAAATACATATAAACTAGCAACATATTTAAATGTAACTGAAAATCTTTCAATAAATAGATATTGGTGATAAAGAAATGATAGAGGACAGAGTCCAATGCACAAATGTTTGGGGTGAATCAAGTCCATTGCCTTGTTCGCATATGAGGAGACAAT... |
Task1_train_19834 | A variant found in Chromosome 14 affects SIX1 (SIX homeobox 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 23 | GGAGGTGAGGAGTCAGAGGAACCTGGAGAAATGGAGAGCTACGGACAGAGCCTCCTGTTAGGAGCCAGGTCCTTTTCTCTTCCAGATTTCAGAAAGTGATAGATTAGCAGGATTTATTTGAAACATACAAAATATATGTTTTAAATTTTGTTCAAGCAGTTACATTTAAATACATATAAACTAGCAACATATTTAAATGTAACTGAAAATCTTTCAATAAATAGATATTGGTGATAAAGAAATGATAGAGGACAGAGTCCAATGCACAAATGTTTGGGGTGAATCAAGTCCATTGCCTTGTTCGCATATGAGGAGACAAT... | GGAGGTGAGGAGTCAGAGGAACCTGGAGAAATGGAGAGCTACGGACAGAGCCTCCTGTTAGGAGCCAGGTCCTTTTCTCTTCCAGATTTCAGAAAGTGATAGATTAGCAGGATTTATTTGAAACATACAAAATATATGTTTTAAATTTTGTTCAAGCAGTTACATTTAAATACATATAAACTAGCAACATATTTAAATGTAACTGAAAATCTTTCAATAAATAGATATTGGTGATAAAGAAATGATAGAGGACAGAGTCCAATGCACAAATGTTTGGGGTGAATCAAGTCCATTGCCTTGTTCGCATATGAGGAGACAAT... |
Task1_train_19835 | A variant found in Chromosome 14 affects SIX1 (SIX homeobox 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Branchiootorenal syndrome 1 | GGAGGTGAGGAGTCAGAGGAACCTGGAGAAATGGAGAGCTACGGACAGAGCCTCCTGTTAGGAGCCAGGTCCTTTTCTCTTCCAGATTTCAGAAAGTGATAGATTAGCAGGATTTATTTGAAACATACAAAATATATGTTTTAAATTTTGTTCAAGCAGTTACATTTAAATACATATAAACTAGCAACATATTTAAATGTAACTGAAAATCTTTCAATAAATAGATATTGGTGATAAAGAAATGATAGAGGACAGAGTCCAATGCACAAATGTTTGGGGTGAATCAAGTCCATTGCCTTGTTCGCATATGAGGAGACAAT... | GGAGGTGAGGAGTCAGAGGAACCTGGAGAAATGGAGAGCTACGGACAGAGCCTCCTGTTAGGAGCCAGGTCCTTTTCTCTTCCAGATTTCAGAAAGTGATAGATTAGCAGGATTTATTTGAAACATACAAAATATATGTTTTAAATTTTGTTCAAGCAGTTACATTTAAATACATATAAACTAGCAACATATTTAAATGTAACTGAAAATCTTTCAATAAATAGATATTGGTGATAAAGAAATGATAGAGGACAGAGTCCAATGCACAAATGTTTGGGGTGAATCAAGTCCATTGCCTTGTTCGCATATGAGGAGACAAT... |
Task1_train_19836 | A genetic alteration is present in SIX1 (SIX homeobox 1) on Chromosome 14. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Branchiootic syndrome 3 | GGAGGTGAGGAGTCAGAGGAACCTGGAGAAATGGAGAGCTACGGACAGAGCCTCCTGTTAGGAGCCAGGTCCTTTTCTCTTCCAGATTTCAGAAAGTGATAGATTAGCAGGATTTATTTGAAACATACAAAATATATGTTTTAAATTTTGTTCAAGCAGTTACATTTAAATACATATAAACTAGCAACATATTTAAATGTAACTGAAAATCTTTCAATAAATAGATATTGGTGATAAAGAAATGATAGAGGACAGAGTCCAATGCACAAATGTTTGGGGTGAATCAAGTCCATTGCCTTGTTCGCATATGAGGAGACAAT... | GGAGGTGAGGAGTCAGAGGAACCTGGAGAAATGGAGAGCTACGGACAGAGCCTCCTGTTAGGAGCCAGGTCCTTTTCTCTTCCAGATTTCAGAAAGTGATAGATTAGCAGGATTTATTTGAAACATACAAAATATATGTTTTAAATTTTGTTCAAGCAGTTACATTTAAATACATATAAACTAGCAACATATTTAAATGTAACTGAAAATCTTTCAATAAATAGATATTGGTGATAAAGAAATGATAGAGGACAGAGTCCAATGCACAAATGTTTGGGGTGAATCAAGTCCATTGCCTTGTTCGCATATGAGGAGACAAT... |
Task1_train_19837 | A mutation in SIX1 (SIX homeobox 1), located on Chromosome 14, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 23 | GGAGGTGAGGAGTCAGAGGAACCTGGAGAAATGGAGAGCTACGGACAGAGCCTCCTGTTAGGAGCCAGGTCCTTTTCTCTTCCAGATTTCAGAAAGTGATAGATTAGCAGGATTTATTTGAAACATACAAAATATATGTTTTAAATTTTGTTCAAGCAGTTACATTTAAATACATATAAACTAGCAACATATTTAAATGTAACTGAAAATCTTTCAATAAATAGATATTGGTGATAAAGAAATGATAGAGGACAGAGTCCAATGCACAAATGTTTGGGGTGAATCAAGTCCATTGCCTTGTTCGCATATGAGGAGACAAT... | GGAGGTGAGGAGTCAGAGGAACCTGGAGAAATGGAGAGCTACGGACAGAGCCTCCTGTTAGGAGCCAGGTCCTTTTCTCTTCCAGATTTCAGAAAGTGATAGATTAGCAGGATTTATTTGAAACATACAAAATATATGTTTTAAATTTTGTTCAAGCAGTTACATTTAAATACATATAAACTAGCAACATATTTAAATGTAACTGAAAATCTTTCAATAAATAGATATTGGTGATAAAGAAATGATAGAGGACAGAGTCCAATGCACAAATGTTTGGGGTGAATCAAGTCCATTGCCTTGTTCGCATATGAGGAGACAAT... |
Task1_train_19838 | A change on Chromosome 14 affects gene SIX1 (SIX homeobox 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Branchiootic syndrome 3 | GGAGGTGAGGAGTCAGAGGAACCTGGAGAAATGGAGAGCTACGGACAGAGCCTCCTGTTAGGAGCCAGGTCCTTTTCTCTTCCAGATTTCAGAAAGTGATAGATTAGCAGGATTTATTTGAAACATACAAAATATATGTTTTAAATTTTGTTCAAGCAGTTACATTTAAATACATATAAACTAGCAACATATTTAAATGTAACTGAAAATCTTTCAATAAATAGATATTGGTGATAAAGAAATGATAGAGGACAGAGTCCAATGCACAAATGTTTGGGGTGAATCAAGTCCATTGCCTTGTTCGCATATGAGGAGACAAT... | GGAGGTGAGGAGTCAGAGGAACCTGGAGAAATGGAGAGCTACGGACAGAGCCTCCTGTTAGGAGCCAGGTCCTTTTCTCTTCCAGATTTCAGAAAGTGATAGATTAGCAGGATTTATTTGAAACATACAAAATATATGTTTTAAATTTTGTTCAAGCAGTTACATTTAAATACATATAAACTAGCAACATATTTAAATGTAACTGAAAATCTTTCAATAAATAGATATTGGTGATAAAGAAATGATAGAGGACAGAGTCCAATGCACAAATGTTTGGGGTGAATCAAGTCCATTGCCTTGTTCGCATATGAGGAGACAAT... |
Task1_train_19839 | A sequence alteration has been identified in SIX1 (SIX homeobox 1) on Chromosome 14. Is it disease-inducing or harmless? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 23 | GGAGGTGAGGAGTCAGAGGAACCTGGAGAAATGGAGAGCTACGGACAGAGCCTCCTGTTAGGAGCCAGGTCCTTTTCTCTTCCAGATTTCAGAAAGTGATAGATTAGCAGGATTTATTTGAAACATACAAAATATATGTTTTAAATTTTGTTCAAGCAGTTACATTTAAATACATATAAACTAGCAACATATTTAAATGTAACTGAAAATCTTTCAATAAATAGATATTGGTGATAAAGAAATGATAGAGGACAGAGTCCAATGCACAAATGTTTGGGGTGAATCAAGTCCATTGCCTTGTTCGCATATGAGGAGACAAT... | GGAGGTGAGGAGTCAGAGGAACCTGGAGAAATGGAGAGCTACGGACAGAGCCTCCTGTTAGGAGCCAGGTCCTTTTCTCTTCCAGATTTCAGAAAGTGATAGATTAGCAGGATTTATTTGAAACATACAAAATATATGTTTTAAATTTTGTTCAAGCAGTTACATTTAAATACATATAAACTAGCAACATATTTAAATGTAACTGAAAATCTTTCAATAAATAGATATTGGTGATAAAGAAATGATAGAGGACAGAGTCCAATGCACAAATGTTTGGGGTGAATCAAGTCCATTGCCTTGTTCGCATATGAGGAGACAAT... |
Task1_train_19840 | This sequence change occurs on Chromosome 14, altering SIX1 (SIX homeobox 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Branchiootic syndrome | GGAGGTGAGGAGTCAGAGGAACCTGGAGAAATGGAGAGCTACGGACAGAGCCTCCTGTTAGGAGCCAGGTCCTTTTCTCTTCCAGATTTCAGAAAGTGATAGATTAGCAGGATTTATTTGAAACATACAAAATATATGTTTTAAATTTTGTTCAAGCAGTTACATTTAAATACATATAAACTAGCAACATATTTAAATGTAACTGAAAATCTTTCAATAAATAGATATTGGTGATAAAGAAATGATAGAGGACAGAGTCCAATGCACAAATGTTTGGGGTGAATCAAGTCCATTGCCTTGTTCGCATATGAGGAGACAAT... | GGAGGTGAGGAGTCAGAGGAACCTGGAGAAATGGAGAGCTACGGACAGAGCCTCCTGTTAGGAGCCAGGTCCTTTTCTCTTCCAGATTTCAGAAAGTGATAGATTAGCAGGATTTATTTGAAACATACAAAATATATGTTTTAAATTTTGTTCAAGCAGTTACATTTAAATACATATAAACTAGCAACATATTTAAATGTAACTGAAAATCTTTCAATAAATAGATATTGGTGATAAAGAAATGATAGAGGACAGAGTCCAATGCACAAATGTTTGGGGTGAATCAAGTCCATTGCCTTGTTCGCATATGAGGAGACAAT... |
Task1_train_19841 | A variant was discovered on Chromosome 14, affecting SIX1 (SIX homeobox 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Branchiootic syndrome 3 | CTGGAGAAATGGAGAGCTACGGACAGAGCCTCCTGTTAGGAGCCAGGTCCTTTTCTCTTCCAGATTTCAGAAAGTGATAGATTAGCAGGATTTATTTGAAACATACAAAATATATGTTTTAAATTTTGTTCAAGCAGTTACATTTAAATACATATAAACTAGCAACATATTTAAATGTAACTGAAAATCTTTCAATAAATAGATATTGGTGATAAAGAAATGATAGAGGACAGAGTCCAATGCACAAATGTTTGGGGTGAATCAAGTCCATTGCCTTGTTCGCATATGAGGAGACAATTAAACATCCCGTTTTCCTGCCC... | CTGGAGAAATGGAGAGCTACGGACAGAGCCTCCTGTTAGGAGCCAGGTCCTTTTCTCTTCCAGATTTCAGAAAGTGATAGATTAGCAGGATTTATTTGAAACATACAAAATATATGTTTTAAATTTTGTTCAAGCAGTTACATTTAAATACATATAAACTAGCAACATATTTAAATGTAACTGAAAATCTTTCAATAAATAGATATTGGTGATAAAGAAATGATAGAGGACAGAGTCCAATGCACAAATGTTTGGGGTGAATCAAGTCCATTGCCTTGTTCGCATATGAGGAGACAATTAAACATCCCGTTTTCCTGCCC... |
Task1_train_19842 | Gene SIX1 (SIX homeobox 1), found on Chromosome 14, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Branchiootic syndrome 3 | TTAGGAGCCAGGTCCTTTTCTCTTCCAGATTTCAGAAAGTGATAGATTAGCAGGATTTATTTGAAACATACAAAATATATGTTTTAAATTTTGTTCAAGCAGTTACATTTAAATACATATAAACTAGCAACATATTTAAATGTAACTGAAAATCTTTCAATAAATAGATATTGGTGATAAAGAAATGATAGAGGACAGAGTCCAATGCACAAATGTTTGGGGTGAATCAAGTCCATTGCCTTGTTCGCATATGAGGAGACAATTAAACATCCCGTTTTCCTGCCCCAGCCCAGAGTTGGTGGTTTTGCAGACACAGAACA... | TTAGGAGCCAGGTCCTTTTCTCTTCCAGATTTCAGAAAGTGATAGATTAGCAGGATTTATTTGAAACATACAAAATATATGTTTTAAATTTTGTTCAAGCAGTTACATTTAAATACATATAAACTAGCAACATATTTAAATGTAACTGAAAATCTTTCAATAAATAGATATTGGTGATAAAGAAATGATAGAGGACAGAGTCCAATGCACAAATGTTTGGGGTGAATCAAGTCCATTGCCTTGTTCGCATATGAGGAGACAATTAAACATCCCGTTTTCCTGCCCCAGCCCAGAGTTGGTGGTTTTGCAGACACAGAACA... |
Task1_train_19843 | A variant affecting Chromosome 14, within the gene SIX1 (SIX homeobox 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Branchiootic syndrome 3 | TAGGAGCCAGGTCCTTTTCTCTTCCAGATTTCAGAAAGTGATAGATTAGCAGGATTTATTTGAAACATACAAAATATATGTTTTAAATTTTGTTCAAGCAGTTACATTTAAATACATATAAACTAGCAACATATTTAAATGTAACTGAAAATCTTTCAATAAATAGATATTGGTGATAAAGAAATGATAGAGGACAGAGTCCAATGCACAAATGTTTGGGGTGAATCAAGTCCATTGCCTTGTTCGCATATGAGGAGACAATTAAACATCCCGTTTTCCTGCCCCAGCCCAGAGTTGGTGGTTTTGCAGACACAGAACAG... | TAGGAGCCAGGTCCTTTTCTCTTCCAGATTTCAGAAAGTGATAGATTAGCAGGATTTATTTGAAACATACAAAATATATGTTTTAAATTTTGTTCAAGCAGTTACATTTAAATACATATAAACTAGCAACATATTTAAATGTAACTGAAAATCTTTCAATAAATAGATATTGGTGATAAAGAAATGATAGAGGACAGAGTCCAATGCACAAATGTTTGGGGTGAATCAAGTCCATTGCCTTGTTCGCATATGAGGAGACAATTAAACATCCCGTTTTCCTGCCCCAGCCCAGAGTTGGTGGTTTTGCAGACACAGAACAG... |
Task1_train_19844 | This alteration occurs within gene SIX1 (SIX homeobox 1) located on Chromosome 14. Is it associated with a disease or is it a benign variant? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 23 | TAGGAGCCAGGTCCTTTTCTCTTCCAGATTTCAGAAAGTGATAGATTAGCAGGATTTATTTGAAACATACAAAATATATGTTTTAAATTTTGTTCAAGCAGTTACATTTAAATACATATAAACTAGCAACATATTTAAATGTAACTGAAAATCTTTCAATAAATAGATATTGGTGATAAAGAAATGATAGAGGACAGAGTCCAATGCACAAATGTTTGGGGTGAATCAAGTCCATTGCCTTGTTCGCATATGAGGAGACAATTAAACATCCCGTTTTCCTGCCCCAGCCCAGAGTTGGTGGTTTTGCAGACACAGAACAG... | TAGGAGCCAGGTCCTTTTCTCTTCCAGATTTCAGAAAGTGATAGATTAGCAGGATTTATTTGAAACATACAAAATATATGTTTTAAATTTTGTTCAAGCAGTTACATTTAAATACATATAAACTAGCAACATATTTAAATGTAACTGAAAATCTTTCAATAAATAGATATTGGTGATAAAGAAATGATAGAGGACAGAGTCCAATGCACAAATGTTTGGGGTGAATCAAGTCCATTGCCTTGTTCGCATATGAGGAGACAATTAAACATCCCGTTTTCCTGCCCCAGCCCAGAGTTGGTGGTTTTGCAGACACAGAACAG... |
Task1_train_19845 | Given this context: Chromosome 14, gene TRMT5 (tRNA methyltransferase 5) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Combined oxidative phosphorylation defect type 26 | TTATGTCGCTTTCAATGTCCTTAACTCTTTAAGCAACTGTTCTTGCCAAAGGCCAGTAATCTTAAGTTTATTTTCTCTGGATATATTCAGCTGCTGCATCCAAACATAATTAATTCACACCATCAATAAATGGCTTTGCTTGGCTAACAAATGATTGACTTAGAGACTTACTGTTGTTGCAGCCTCATTTTCATTTTGTGAAGAAATTCTGCTTTGTTATTTCCATTTTAAATTTTCTAATTTTTCTAACAGTTGCTTGCCTGTGAGTTGGGAATACTGTGATGAGTGGTTTGTCTGGTAATGTCAATGGTTATTCTTTT... | TTATGTCGCTTTCAATGTCCTTAACTCTTTAAGCAACTGTTCTTGCCAAAGGCCAGTAATCTTAAGTTTATTTTCTCTGGATATATTCAGCTGCTGCATCCAAACATAATTAATTCACACCATCAATAAATGGCTTTGCTTGGCTAACAAATGATTGACTTAGAGACTTACTGTTGTTGCAGCCTCATTTTCATTTTGTGAAGAAATTCTGCTTTGTTATTTCCATTTTAAATTTTCTAATTTTTCTAACAGTTGCTTGCCTGTGAGTTGGGAATACTGTGATGAGTGGTTTGTCTGGTAATGTCAATGGTTATTCTTTT... |
Task1_train_19846 | A variant has been detected on Chromosome 14 in HIF1A, HIF1A-AS3 (hypoxia inducible factor 1 subunit alpha| HIF1A antisense RNA 3). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | TAATAAACTGTTGCTATTCAACAAGCTATTAGATGTCACTAGGCAGTTAAGCAAAGGAAGACAGCTTTTGCTTGGTGTGACAATGAAAATCTTTCTGATTTCCTTCTTGGAAGAGTTCCCTGAAGATATGTCATTGTATTGACACCTTTATTTTTGCTAACCTATCCCTCTAAATTCTGGATATTGTGTGTGCCACAGCTTTTTTTCTTCCATATTCCTGCATTTATTTGGCACCTGTTGTGCCAGTAATAGATAAGGGGCTGCTAAGGGAGGAGGCAACCTGCACTGGCTTATAGCTGCTAATGTCAGTTCCTATAGCT... | TAATAAACTGTTGCTATTCAACAAGCTATTAGATGTCACTAGGCAGTTAAGCAAAGGAAGACAGCTTTTGCTTGGTGTGACAATGAAAATCTTTCTGATTTCCTTCTTGGAAGAGTTCCCTGAAGATATGTCATTGTATTGACACCTTTATTTTTGCTAACCTATCCCTCTAAATTCTGGATATTGTGTGTGCCACAGCTTTTTTTCTTCCATATTCCTGCATTTATTTGGCACCTGTTGTGCCAGTAATAGATAAGGGGCTGCTAAGGGAGGAGGCAACCTGCACTGGCTTATAGCTGCTAATGTCAGTTCCTATAGCT... |
Task1_train_19847 | Gene KCNH5 (potassium voltage-gated channel subfamily H member 5) on Chromosome 14 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CTGAATAGACCAATAACAGGAGCTGAAATTTTGGCAATAATCAATAGCTTACCAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTATAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAATCCTCCCTAACTAATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGGGCAGAGACATAACAAAAAAAGAGAATTTTAGACCAATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGCACAT... | CTGAATAGACCAATAACAGGAGCTGAAATTTTGGCAATAATCAATAGCTTACCAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTATAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAATCCTCCCTAACTAATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGGGCAGAGACATAACAAAAAAAGAGAATTTTAGACCAATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGCACAT... |
Task1_train_19848 | This genomic variant is located on Chromosome 14, within the KCNH5 (potassium voltage-gated channel subfamily H member 5) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Inborn genetic diseases | CTGAATAGACCAATAACAGGAGCTGAAATTTTGGCAATAATCAATAGCTTACCAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTATAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAATCCTCCCTAACTAATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGGGCAGAGACATAACAAAAAAAGAGAATTTTAGACCAATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGCACAT... | CTGAATAGACCAATAACAGGAGCTGAAATTTTGGCAATAATCAATAGCTTACCAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTATAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAATCCTCCCTAACTAATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGGGCAGAGACATAACAAAAAAAGAGAATTTTAGACCAATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGCACAT... |
Task1_train_19849 | This variant lies on Chromosome 14 and affects the gene KCNH5 (potassium voltage-gated channel subfamily H member 5). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Developmental and epileptic encephalopathy 112 | CTGAATAGACCAATAACAGGAGCTGAAATTTTGGCAATAATCAATAGCTTACCAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTATAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAATCCTCCCTAACTAATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGGGCAGAGACATAACAAAAAAAGAGAATTTTAGACCAATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGCACAT... | CTGAATAGACCAATAACAGGAGCTGAAATTTTGGCAATAATCAATAGCTTACCAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTATAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAATCCTCCCTAACTAATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCGGGCAGAGACATAACAAAAAAAGAGAATTTTAGACCAATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGCACAT... |
Task1_train_19850 | Given this variant in gene ESR2 (estrogen receptor 2) on Chromosome 14, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Ovarian dysgenesis 8 | ATAACAAAAGACACCGCCTTGGAGTGAAATGGACTCTGGTTCGAACCCCAGCTCAGCCTCTTTCTAGCTGTTCACTTAATCTCCCATTAAGTCTTTGTTTTTCTTATAGGAAAATGGGGGTAACAATGCCTATCTCTGAGAATGTCTTATAGGCAGGATCTCTTATCATTCTTGTTTTACAGATGAGGAAACTACAGCAGAGAGAACACACATGGTTCAAGTCTTTGAACAATTATAACGCAAATCTGCCTCAAGGAGAATGTAATGGTGTTATGAATGTAAAGATGGATAAATACTTTCTAAATCCACATGCTTTGCTC... | ATAACAAAAGACACCGCCTTGGAGTGAAATGGACTCTGGTTCGAACCCCAGCTCAGCCTCTTTCTAGCTGTTCACTTAATCTCCCATTAAGTCTTTGTTTTTCTTATAGGAAAATGGGGGTAACAATGCCTATCTCTGAGAATGTCTTATAGGCAGGATCTCTTATCATTCTTGTTTTACAGATGAGGAAACTACAGCAGAGAGAACACACATGGTTCAAGTCTTTGAACAATTATAACGCAAATCTGCCTCAAGGAGAATGTAATGGTGTTATGAATGTAAAGATGGATAAATACTTTCTAAATCCACATGCTTTGCTC... |
Task1_train_19851 | A variant affecting Chromosome 14, within the gene MTHFD1 (methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | ATCCTATCCACGAAGCACTGCATGTTTAGCAGTGTCTCGTCAACCCTGACAGTATTTGGTTTAGGAGCAAAACTGAACTCACCAGTGCTGCGTTTAGTCATGTAGTCAAAGATATGTGTCTCTTACCTGTGGGAAAACGAAAATGACTAACATTAACACGTAGAAATAGATGCAGCGGGTATTTCAAGCTAACTACAGTGTGAAGACGATTGAAACTTGTACAGAGGGCAAACCTCTATCTATATTTCCTTGGCATTTTGAAATGACTCTAGGGGCTGTAAGAGGAAATGTTCTGCCAGTTTGCTGCTTTATAATCTTCT... | ATCCTATCCACGAAGCACTGCATGTTTAGCAGTGTCTCGTCAACCCTGACAGTATTTGGTTTAGGAGCAAAACTGAACTCACCAGTGCTGCGTTTAGTCATGTAGTCAAAGATATGTGTCTCTTACCTGTGGGAAAACGAAAATGACTAACATTAACACGTAGAAATAGATGCAGCGGGTATTTCAAGCTAACTACAGTGTGAAGACGATTGAAACTTGTACAGAGGGCAAACCTCTATCTATATTTCCTTGGCATTTTGAAATGACTCTAGGGGCTGTAAGAGGAAATGTTCTGCCAGTTTGCTGCTTTATAATCTTCT... |
Task1_train_19852 | Here is a variant affecting SPTB (spectrin beta, erythrocytic) on Chromosome 14. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Elliptocytosis 3 | CCATATCCAGACTCACTGACCCACAGGCCTCAGGCCAGATCGGTGGAAAGAGGAGAGGGCTCTGCATAGGGGGAAAGAATCGCCTACAAGGATGGGCACCCCCACTTCACCACTGAAGATGCCTGTGGTGGGGCAGGTGGGATGGGACAGCTGAGTGATTGGGGTGTGTGTGTGTGTGAGTGTGTGTGTGTGTGGGGGTGTGGTGTGTGCACATGTATGTGTGTGTGTGTGTGGAGGTTGCGGTGTGTGCATGTGTGTGTGTGTGGGGGTGTGGTGTGTATGAGTGTGTATGTGTGTGGGTGTGAGTGTGTGGATGTGTG... | CCATATCCAGACTCACTGACCCACAGGCCTCAGGCCAGATCGGTGGAAAGAGGAGAGGGCTCTGCATAGGGGGAAAGAATCGCCTACAAGGATGGGCACCCCCACTTCACCACTGAAGATGCCTGTGGTGGGGCAGGTGGGATGGGACAGCTGAGTGATTGGGGTGTGTGTGTGTGTGAGTGTGTGTGTGTGTGGGGGTGTGGTGTGTGCACATGTATGTGTGTGTGTGTGTGGAGGTTGCGGTGTGTGCATGTGTGTGTGTGTGGGGGTGTGGTGTGTATGAGTGTGTATGTGTGTGGGTGTGAGTGTGTGGATGTGTG... |
Task1_train_19853 | This variant affects the gene SPTB (spectrin beta, erythrocytic) found on Chromosome 14. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hereditary spherocytosis | CACCCCCACTTCACCACTGAAGATGCCTGTGGTGGGGCAGGTGGGATGGGACAGCTGAGTGATTGGGGTGTGTGTGTGTGTGAGTGTGTGTGTGTGTGGGGGTGTGGTGTGTGCACATGTATGTGTGTGTGTGTGTGGAGGTTGCGGTGTGTGCATGTGTGTGTGTGTGGGGGTGTGGTGTGTATGAGTGTGTATGTGTGTGGGTGTGAGTGTGTGGATGTGTGTGTATGGGGTGTGGTGTGTGCATGTGGATGGGTGTGGTGTGTGCATATTTGTGTGTGCATATGTGTGTATGTGGGTGTGTGGGTGTGCGTGAGGTG... | CACCCCCACTTCACCACTGAAGATGCCTGTGGTGGGGCAGGTGGGATGGGACAGCTGAGTGATTGGGGTGTGTGTGTGTGTGAGTGTGTGTGTGTGTGGGGGTGTGGTGTGTGCACATGTATGTGTGTGTGTGTGTGGAGGTTGCGGTGTGTGCATGTGTGTGTGTGTGGGGGTGTGGTGTGTATGAGTGTGTATGTGTGTGGGTGTGAGTGTGTGGATGTGTGTGTATGGGGTGTGGTGTGTGCATGTGGATGGGTGTGGTGTGTGCATATTTGTGTGTGCATATGTGTGTATGTGGGTGTGTGGGTGTGCGTGAGGTG... |
Task1_train_19854 | Gene SPTB (spectrin beta, erythrocytic) on Chromosome 14 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Pyropoikilocytosis, hereditary | GGGATGGGACAGCTGAGTGATTGGGGTGTGTGTGTGTGTGAGTGTGTGTGTGTGTGGGGGTGTGGTGTGTGCACATGTATGTGTGTGTGTGTGTGGAGGTTGCGGTGTGTGCATGTGTGTGTGTGTGGGGGTGTGGTGTGTATGAGTGTGTATGTGTGTGGGTGTGAGTGTGTGGATGTGTGTGTATGGGGTGTGGTGTGTGCATGTGGATGGGTGTGGTGTGTGCATATTTGTGTGTGCATATGTGTGTATGTGGGTGTGTGGGTGTGCGTGAGGTGTGTATGGGGGGTGTGGTCTGTATGAGTATGCGTGTGTGGGTG... | GGGATGGGACAGCTGAGTGATTGGGGTGTGTGTGTGTGTGAGTGTGTGTGTGTGTGGGGGTGTGGTGTGTGCACATGTATGTGTGTGTGTGTGTGGAGGTTGCGGTGTGTGCATGTGTGTGTGTGTGGGGGTGTGGTGTGTATGAGTGTGTATGTGTGTGGGTGTGAGTGTGTGGATGTGTGTGTATGGGGTGTGGTGTGTGCATGTGGATGGGTGTGGTGTGTGCATATTTGTGTGTGCATATGTGTGTATGTGGGTGTGTGGGTGTGCGTGAGGTGTGTATGGGGGGTGTGGTCTGTATGAGTATGCGTGTGTGGGTG... |
Task1_train_19855 | This is a variant in SPTB (spectrin beta, erythrocytic), located on Chromosome 14. Is this mutation a likely cause of disease or not? | Pathogenic; Elliptocytosis 3 | GGGATGGGACAGCTGAGTGATTGGGGTGTGTGTGTGTGTGAGTGTGTGTGTGTGTGGGGGTGTGGTGTGTGCACATGTATGTGTGTGTGTGTGTGGAGGTTGCGGTGTGTGCATGTGTGTGTGTGTGGGGGTGTGGTGTGTATGAGTGTGTATGTGTGTGGGTGTGAGTGTGTGGATGTGTGTGTATGGGGTGTGGTGTGTGCATGTGGATGGGTGTGGTGTGTGCATATTTGTGTGTGCATATGTGTGTATGTGGGTGTGTGGGTGTGCGTGAGGTGTGTATGGGGGGTGTGGTCTGTATGAGTATGCGTGTGTGGGTG... | GGGATGGGACAGCTGAGTGATTGGGGTGTGTGTGTGTGTGAGTGTGTGTGTGTGTGGGGGTGTGGTGTGTGCACATGTATGTGTGTGTGTGTGTGGAGGTTGCGGTGTGTGCATGTGTGTGTGTGTGGGGGTGTGGTGTGTATGAGTGTGTATGTGTGTGGGTGTGAGTGTGTGGATGTGTGTGTATGGGGTGTGGTGTGTGCATGTGGATGGGTGTGGTGTGTGCATATTTGTGTGTGCATATGTGTGTATGTGGGTGTGTGGGTGTGCGTGAGGTGTGTATGGGGGGTGTGGTCTGTATGAGTATGCGTGTGTGGGTG... |
Task1_train_19856 | Given a variant located on Chromosome 14 and affecting SPTB (spectrin beta, erythrocytic), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Hereditary spherocytosis type 2 | GGGCGGCTTCTCCACGGTGCGGTAGGTGCTGAAGGCCTGCAGCTGCTGCTGGACGCCCGTCAGCGAGTTGGCAAACTTGCGGCTGTTCAGGACAGTGATGGTCTGCTCGATCCAGGTGAGCAGGTCCGAGGCTAGCCCGCTGTACTTTTCAATCATCTTCTCAGTCTCAATGGCATGGTCAATAACCTAAGGAATCATCTTCTTACTTATTCTCATCAGAAGGGCAATGCCACCACTGAGGATATCAATGAGGACCACAATCAAGGTGCCACGAAATGGGGCTCCCACCTCCTAAGCCCTGGAGTGCTCTAGGCTGGGTT... | GGGCGGCTTCTCCACGGTGCGGTAGGTGCTGAAGGCCTGCAGCTGCTGCTGGACGCCCGTCAGCGAGTTGGCAAACTTGCGGCTGTTCAGGACAGTGATGGTCTGCTCGATCCAGGTGAGCAGGTCCGAGGCTAGCCCGCTGTACTTTTCAATCATCTTCTCAGTCTCAATGGCATGGTCAATAACCTAAGGAATCATCTTCTTACTTATTCTCATCAGAAGGGCAATGCCACCACTGAGGATATCAATGAGGACCACAATCAAGGTGCCACGAAATGGGGCTCCCACCTCCTAAGCCCTGGAGTGCTCTAGGCTGGGTT... |
Task1_train_19857 | A mutation found in SPTB (spectrin beta, erythrocytic) on Chromosome 14 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Hereditary spherocytosis type 2 | ATATGAGGGAAGTGGGCGGCAGGCATGCTGGGATTTAAGGAAAGTGAAGGTGCTATGGGCTGCTGAAGGGGAGAGGAGAAGGAACAGCAGAGGTCACATTTCTGTGACTCCATGTTAAGTGCAATGTGTCCAAATATTCCCAGGGAGGCTGTCTCAGTCAGTCCCCACGGCTGTCCCCTCCCTCTTACCGGTGCTTGTGTATCAGGGCATTAAAGGCCAAGCCATCCTTCCAGCTGGAGGTAAAGTTGGTGACATTAACATGAGGGTAGCTGCATCCAAGAGAAACAGTAAGAGCTAAGAATTAGATTTTTTGTAGTCCC... | ATATGAGGGAAGTGGGCGGCAGGCATGCTGGGATTTAAGGAAAGTGAAGGTGCTATGGGCTGCTGAAGGGGAGAGGAGAAGGAACAGCAGAGGTCACATTTCTGTGACTCCATGTTAAGTGCAATGTGTCCAAATATTCCCAGGGAGGCTGTCTCAGTCAGTCCCCACGGCTGTCCCCTCCCTCTTACCGGTGCTTGTGTATCAGGGCATTAAAGGCCAAGCCATCCTTCCAGCTGGAGGTAAAGTTGGTGACATTAACATGAGGGTAGCTGCATCCAAGAGAAACAGTAAGAGCTAAGAATTAGATTTTTTGTAGTCCC... |
Task1_train_19858 | Here is a genetic alteration in MAX (MYC associated factor X) on Chromosome 14. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Hereditary cancer-predisposing syndrome | GGAAAAAAAAAAAACCCTTAAAAAGGAGGAGGGTTCATTCTGATTACTCCAAACCGGTCATCTTCTCAAAGTAGAGCAGTTCAGATTCACAAAGTCTATCAGAGGTGAGGGCGGGCCAGGAGGCCACCTGGGCAGGGCAGGCGTCCCCCGGGCATGTGCCCGGCAGGGCTGGAGGAGCTGGTAGGGTGGGCAGGACACTATGTGCTCAGAGGTCCGGCCGGCCGTCTGTCCTCCACAGAAAAAGCTGCCAAGTTGGGGTGTTTTGGTTTAAAAATTCCTGTTGGGGACAGGGAATCCCTGAAGGGAATACATTAAAAAAT... | GGAAAAAAAAAAAACCCTTAAAAAGGAGGAGGGTTCATTCTGATTACTCCAAACCGGTCATCTTCTCAAAGTAGAGCAGTTCAGATTCACAAAGTCTATCAGAGGTGAGGGCGGGCCAGGAGGCCACCTGGGCAGGGCAGGCGTCCCCCGGGCATGTGCCCGGCAGGGCTGGAGGAGCTGGTAGGGTGGGCAGGACACTATGTGCTCAGAGGTCCGGCCGGCCGTCTGTCCTCCACAGAAAAAGCTGCCAAGTTGGGGTGTTTTGGTTTAAAAATTCCTGTTGGGGACAGGGAATCCCTGAAGGGAATACATTAAAAAAT... |
Task1_train_19859 | A change on Chromosome 14 affects gene MAX (MYC associated factor X). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Hereditary pheochromocytoma-paraganglioma | GGAAAAAAAAAAAACCCTTAAAAAGGAGGAGGGTTCATTCTGATTACTCCAAACCGGTCATCTTCTCAAAGTAGAGCAGTTCAGATTCACAAAGTCTATCAGAGGTGAGGGCGGGCCAGGAGGCCACCTGGGCAGGGCAGGCGTCCCCCGGGCATGTGCCCGGCAGGGCTGGAGGAGCTGGTAGGGTGGGCAGGACACTATGTGCTCAGAGGTCCGGCCGGCCGTCTGTCCTCCACAGAAAAAGCTGCCAAGTTGGGGTGTTTTGGTTTAAAAATTCCTGTTGGGGACAGGGAATCCCTGAAGGGAATACATTAAAAAAT... | GGAAAAAAAAAAAACCCTTAAAAAGGAGGAGGGTTCATTCTGATTACTCCAAACCGGTCATCTTCTCAAAGTAGAGCAGTTCAGATTCACAAAGTCTATCAGAGGTGAGGGCGGGCCAGGAGGCCACCTGGGCAGGGCAGGCGTCCCCCGGGCATGTGCCCGGCAGGGCTGGAGGAGCTGGTAGGGTGGGCAGGACACTATGTGCTCAGAGGTCCGGCCGGCCGTCTGTCCTCCACAGAAAAAGCTGCCAAGTTGGGGTGTTTTGGTTTAAAAATTCCTGTTGGGGACAGGGAATCCCTGAAGGGAATACATTAAAAAAT... |
Task1_train_19860 | This genomic variant is located on Chromosome 14, within the LOC130055850, MAX (ATAC-STARR-seq lymphoblastoid silent region 5847| MYC associated factor X) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Hereditary cancer-predisposing syndrome | AATACAAAAATTAGCTGGGTGTGGTGGCACGCGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCAAGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCGAGATAGCGCCATTGCACTCCAGCCTGGTGACAGAGTGAGACTCTGTCTCAAAAATAAATAAATAAAATAAAATTAAAAATAGGAAGATCTGGCAATACTGACCCTTCACTCCTACTAACAAACCACTGGAGTTCAGTAGTGCTGACTTTTTAGAAGAGGCACTGCTCTCCAGTACCCAAGCCCTCACCTCTTCCTTCTTTATTCTTTATGG... | AATACAAAAATTAGCTGGGTGTGGTGGCACGCGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCAAGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCGAGATAGCGCCATTGCACTCCAGCCTGGTGACAGAGTGAGACTCTGTCTCAAAAATAAATAAATAAAATAAAATTAAAAATAGGAAGATCTGGCAATACTGACCCTTCACTCCTACTAACAAACCACTGGAGTTCAGTAGTGCTGACTTTTTAGAAGAGGCACTGCTCTCCAGTACCCAAGCCCTCACCTCTTCCTTCTTTATTCTTTATGG... |
Task1_train_19861 | A variant affecting Chromosome 14, within the gene FUT8 (fucosyltransferase 8), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Congenital disorder of glycosylation with defective fucosylation 1 | ACCAGACCTGAAACCAGCATAGCACTGGATCTCACCCAAGGCCCAGTGTAACCCCTACCTGGCTACCTCCTGTGTTGGCTCAAAGTTCTAGGGCTCTATAATGAGCAGGTGGCAAAGCCAGTCAGGCTTTTATCCATCCCTTCAGGACAGCAAGCAAGTTCCCCTGGGCCCCAGGCAGGTCCAGAGATGCCATCTGGGAGCCAGCATCTGGAGTTGGAAACCTTAGAACCCTATCTGGTCCTCTATTCTCCTGCAGCTGAGCTGGCATCCAAACCATAAGGCAAAGTGCTTCCCACTTTTCACTCCTCTTTTCATAGGCA... | ACCAGACCTGAAACCAGCATAGCACTGGATCTCACCCAAGGCCCAGTGTAACCCCTACCTGGCTACCTCCTGTGTTGGCTCAAAGTTCTAGGGCTCTATAATGAGCAGGTGGCAAAGCCAGTCAGGCTTTTATCCATCCCTTCAGGACAGCAAGCAAGTTCCCCTGGGCCCCAGGCAGGTCCAGAGATGCCATCTGGGAGCCAGCATCTGGAGTTGGAAACCTTAGAACCCTATCTGGTCCTCTATTCTCCTGCAGCTGAGCTGGCATCCAAACCATAAGGCAAAGTGCTTCCCACTTTTCACTCCTCTTTTCATAGGCA... |
Task1_train_19862 | This mutation is located in gene GPHN (gephyrin) on Chromosome 14. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C | TCTTAAAATTAATTTTTAAACACTTCAAAGAGATCAGGGAAATGAGAAAGAATACATAAATCTCTGATGTAATGTTTTGACAAAATAGTAAAAAAAAAAATTGATGGGAAATAACAAATGTAATCTCCTGGCTGTATAGAAACCTTTAATTATATCACATATGCATACATACACACACACAGAAAAATAGTGGTCTGGATGTAACTGTTGGTTATATTAGCACTGCTACTAAGGTGTCAACCTAGAGCAAGTGAAGTATTATTGGAGACATAAAAAGCCTGGATTTGATTACCAAAAATTGGAATAAAAAGAATTAACTA... | TCTTAAAATTAATTTTTAAACACTTCAAAGAGATCAGGGAAATGAGAAAGAATACATAAATCTCTGATGTAATGTTTTGACAAAATAGTAAAAAAAAAAATTGATGGGAAATAACAAATGTAATCTCCTGGCTGTATAGAAACCTTTAATTATATCACATATGCATACATACACACACACAGAAAAATAGTGGTCTGGATGTAACTGTTGGTTATATTAGCACTGCTACTAAGGTGTCAACCTAGAGCAAGTGAAGTATTATTGGAGACATAAAAAGCCTGGATTTGATTACCAAAAATTGGAATAAAAAGAATTAACTA... |
Task1_train_19863 | A mutation in GPHN (gephyrin), located on Chromosome 14, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C | GGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAACTCTCTTCCTTCACCTGTAAAATGAACATAACAGTGCTCTACTAGATTTTCATGGGATTAAGTGAGATTATATATGTGATTCATACAGTGTTAATAAACATTTACTGTATCATTGGGGCTAGCCACCAGAAAAACTCAGCCCTTGTGCTATCTCTGATAATTAACCACTATTAGTGCACTATTCAAAATCCCAGCAAAGTCATTCATGTAGATTCTGAGCTGATGTATAGCTTACATTTTGATCTACACCCCCCAGTGCCAGGACAAACTACTTCC... | GGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAACTCTCTTCCTTCACCTGTAAAATGAACATAACAGTGCTCTACTAGATTTTCATGGGATTAAGTGAGATTATATATGTGATTCATACAGTGTTAATAAACATTTACTGTATCATTGGGGCTAGCCACCAGAAAAACTCAGCCCTTGTGCTATCTCTGATAATTAACCACTATTAGTGCACTATTCAAAATCCCAGCAAAGTCATTCATGTAGATTCTGAGCTGATGTATAGCTTACATTTTGATCTACACCCCCCAGTGCCAGGACAAACTACTTCC... |
Task1_train_19864 | A genomic change on Chromosome 14 affects GPHN (gephyrin). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C | GTGAATTAATTAATTAATAATCAACATTTCATCTAGTCCCCCAGTCTTTGGAGTTCAGAGGAGGCTGAGAAGATGACTGAGACTAAGATAAAGGTGGGATAGACAGTGGGGTAGAAAGAGTATTCAAGGCAGAAAAAAGATTTTCAAAGACTGGAGGCAATAGCTTAAGAAACTGGCCAGATGCGGTTGTTCACACCTGTAATTCCAACACTTTGGGAGGCCAGGGTGGGTGGATCGCTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACGCTCTCTCTCCTAAAAATACAAAAATTCGCCGGGCATG... | GTGAATTAATTAATTAATAATCAACATTTCATCTAGTCCCCCAGTCTTTGGAGTTCAGAGGAGGCTGAGAAGATGACTGAGACTAAGATAAAGGTGGGATAGACAGTGGGGTAGAAAGAGTATTCAAGGCAGAAAAAAGATTTTCAAAGACTGGAGGCAATAGCTTAAGAAACTGGCCAGATGCGGTTGTTCACACCTGTAATTCCAACACTTTGGGAGGCCAGGGTGGGTGGATCGCTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACGCTCTCTCTCCTAAAAATACAAAAATTCGCCGGGCATG... |
Task1_train_19865 | This mutation occurs in GPHN, PALS1 (gephyrin| protein associated with LIN7 1, MAGUK p55 family member) on Chromosome 14. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Intellectual disability | TTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGAGACTAGCCTGGGCCACATAGTGGCATAGCTGACATAATGAGACTTTGTCTCTACAAAAAATTTAAAAATTAGCTGGGCATGGTGGTGCGTACCTGTAGTCCCAGCTATTCAGGAGGCTGAGGTGGAAGGATTGCATGAGGCTGGAAGGTTGAGGCTGCAGTGAGCTTTGATCACACCAGTGTAACAGAGCAGTCTCAGAAAAAGAAAGAAAATCATTTCCATCTCTCATTAATTTCTGCCTCTATTTCAGAATAGCCTATAGTTCATACTACAAAA... | TTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGAGACTAGCCTGGGCCACATAGTGGCATAGCTGACATAATGAGACTTTGTCTCTACAAAAAATTTAAAAATTAGCTGGGCATGGTGGTGCGTACCTGTAGTCCCAGCTATTCAGGAGGCTGAGGTGGAAGGATTGCATGAGGCTGGAAGGTTGAGGCTGCAGTGAGCTTTGATCACACCAGTGTAACAGAGCAGTCTCAGAAAAAGAAAGAAAATCATTTCCATCTCTCATTAATTTCTGCCTCTATTTCAGAATAGCCTATAGTTCATACTACAAAA... |
Task1_train_19866 | Here is a genetic alteration in GPHN, PALS1 (gephyrin| protein associated with LIN7 1, MAGUK p55 family member) on Chromosome 14. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Anxiety | TTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGAGACTAGCCTGGGCCACATAGTGGCATAGCTGACATAATGAGACTTTGTCTCTACAAAAAATTTAAAAATTAGCTGGGCATGGTGGTGCGTACCTGTAGTCCCAGCTATTCAGGAGGCTGAGGTGGAAGGATTGCATGAGGCTGGAAGGTTGAGGCTGCAGTGAGCTTTGATCACACCAGTGTAACAGAGCAGTCTCAGAAAAAGAAAGAAAATCATTTCCATCTCTCATTAATTTCTGCCTCTATTTCAGAATAGCCTATAGTTCATACTACAAAA... | TTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGAGACTAGCCTGGGCCACATAGTGGCATAGCTGACATAATGAGACTTTGTCTCTACAAAAAATTTAAAAATTAGCTGGGCATGGTGGTGCGTACCTGTAGTCCCAGCTATTCAGGAGGCTGAGGTGGAAGGATTGCATGAGGCTGGAAGGTTGAGGCTGCAGTGAGCTTTGATCACACCAGTGTAACAGAGCAGTCTCAGAAAAAGAAAGAAAATCATTTCCATCTCTCATTAATTTCTGCCTCTATTTCAGAATAGCCTATAGTTCATACTACAAAA... |
Task1_train_19867 | A mutation on Chromosome 14 affecting GPHN, PALS1 (gephyrin| protein associated with LIN7 1, MAGUK p55 family member) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Abnormal facial shape | TTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGAGACTAGCCTGGGCCACATAGTGGCATAGCTGACATAATGAGACTTTGTCTCTACAAAAAATTTAAAAATTAGCTGGGCATGGTGGTGCGTACCTGTAGTCCCAGCTATTCAGGAGGCTGAGGTGGAAGGATTGCATGAGGCTGGAAGGTTGAGGCTGCAGTGAGCTTTGATCACACCAGTGTAACAGAGCAGTCTCAGAAAAAGAAAGAAAATCATTTCCATCTCTCATTAATTTCTGCCTCTATTTCAGAATAGCCTATAGTTCATACTACAAAA... | TTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGAGACTAGCCTGGGCCACATAGTGGCATAGCTGACATAATGAGACTTTGTCTCTACAAAAAATTTAAAAATTAGCTGGGCATGGTGGTGCGTACCTGTAGTCCCAGCTATTCAGGAGGCTGAGGTGGAAGGATTGCATGAGGCTGGAAGGTTGAGGCTGCAGTGAGCTTTGATCACACCAGTGTAACAGAGCAGTCTCAGAAAAAGAAAGAAAATCATTTCCATCTCTCATTAATTTCTGCCTCTATTTCAGAATAGCCTATAGTTCATACTACAAAA... |
Task1_train_19868 | The gene GPHN, PALS1 (gephyrin| protein associated with LIN7 1, MAGUK p55 family member), on Chromosome 14, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Arachnoid cyst | TTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGAGACTAGCCTGGGCCACATAGTGGCATAGCTGACATAATGAGACTTTGTCTCTACAAAAAATTTAAAAATTAGCTGGGCATGGTGGTGCGTACCTGTAGTCCCAGCTATTCAGGAGGCTGAGGTGGAAGGATTGCATGAGGCTGGAAGGTTGAGGCTGCAGTGAGCTTTGATCACACCAGTGTAACAGAGCAGTCTCAGAAAAAGAAAGAAAATCATTTCCATCTCTCATTAATTTCTGCCTCTATTTCAGAATAGCCTATAGTTCATACTACAAAA... | TTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGAGACTAGCCTGGGCCACATAGTGGCATAGCTGACATAATGAGACTTTGTCTCTACAAAAAATTTAAAAATTAGCTGGGCATGGTGGTGCGTACCTGTAGTCCCAGCTATTCAGGAGGCTGAGGTGGAAGGATTGCATGAGGCTGGAAGGTTGAGGCTGCAGTGAGCTTTGATCACACCAGTGTAACAGAGCAGTCTCAGAAAAAGAAAGAAAATCATTTCCATCTCTCATTAATTTCTGCCTCTATTTCAGAATAGCCTATAGTTCATACTACAAAA... |
Task1_train_19869 | Here is a mutation in GPHN, PALS1 (gephyrin| protein associated with LIN7 1, MAGUK p55 family member) on Chromosome 14. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Cerebral palsy | TTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGAGACTAGCCTGGGCCACATAGTGGCATAGCTGACATAATGAGACTTTGTCTCTACAAAAAATTTAAAAATTAGCTGGGCATGGTGGTGCGTACCTGTAGTCCCAGCTATTCAGGAGGCTGAGGTGGAAGGATTGCATGAGGCTGGAAGGTTGAGGCTGCAGTGAGCTTTGATCACACCAGTGTAACAGAGCAGTCTCAGAAAAAGAAAGAAAATCATTTCCATCTCTCATTAATTTCTGCCTCTATTTCAGAATAGCCTATAGTTCATACTACAAAA... | TTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGAGACTAGCCTGGGCCACATAGTGGCATAGCTGACATAATGAGACTTTGTCTCTACAAAAAATTTAAAAATTAGCTGGGCATGGTGGTGCGTACCTGTAGTCCCAGCTATTCAGGAGGCTGAGGTGGAAGGATTGCATGAGGCTGGAAGGTTGAGGCTGCAGTGAGCTTTGATCACACCAGTGTAACAGAGCAGTCTCAGAAAAAGAAAGAAAATCATTTCCATCTCTCATTAATTTCTGCCTCTATTTCAGAATAGCCTATAGTTCATACTACAAAA... |
Task1_train_19870 | A variant was discovered on Chromosome 14, affecting GPHN, PIGH (gephyrin| phosphatidylinositol glycan anchor biosynthesis class H). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Glycosylphosphatidylinositol biosynthesis defect 17 | CTGCCTCAGCCTCCCCCACAGTGTTGGGATTACAGGCATGAGCCACTGCACCAGCTGATAAGTGTTTTTTTTTTTTTGTAAGAGCAAAACAAAAAAACCCAGGCATGATTTTAAAAGCTGGCAAGAGTGGCTAAATAAACTGATATTTCAATATATTATACAATTATTTAAAATAATAAATATAATGGCCTTTGTAGGATACATACATATTAAATTATTTACAAAGCAAGACACACAATAGTGTACAATGTAAGATCAATTACCTCTATCTAAAAAAAGTGTACAGTAGTAGACTGACAGAGTCAAAGTAGATGAATGGT... | CTGCCTCAGCCTCCCCCACAGTGTTGGGATTACAGGCATGAGCCACTGCACCAGCTGATAAGTGTTTTTTTTTTTTTGTAAGAGCAAAACAAAAAAACCCAGGCATGATTTTAAAAGCTGGCAAGAGTGGCTAAATAAACTGATATTTCAATATATTATACAATTATTTAAAATAATAAATATAATGGCCTTTGTAGGATACATACATATTAAATTATTTACAAAGCAAGACACACAATAGTGTACAATGTAAGATCAATTACCTCTATCTAAAAAAAGTGTACAGTAGTAGACTGACAGAGTCAAAGTAGATGAATGGT... |
Task1_train_19871 | The gene GPHN, LOC130055900, PIGH (gephyrin| ATAC-STARR-seq lymphoblastoid active region 8583| phosphatidylinositol glycan anchor biosynthesis class H) on Chromosome 14 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Glycosylphosphatidylinositol biosynthesis defect 17 | CAGATATTCATTACTCTCATAAACAGTTTTGAATAGGAAAGGTAAGAAATTTTGGCACACAGAGCCCTTAGAAAGTGTTGCAGTAGAGTTTAAAGGAAGATGCGGTCACTGATTCCTCGGGTACTTGATGGGGGTAAGCAGAGTACACCGGCATGAGAGAGACAAGTACAGAAGGGACCTGGCATAAAAGCAGGCTTTTGTTTTTAAATTTTGCCTAAGATCAGCTATACAATGGTATAAAGGAAAAGAAAGGGTCTCAGAGTCAGAAAGCCCTTGGTTTGAAGCCCAGATCTGCCATTTACTGCTTTGAGACTTTGGAT... | CAGATATTCATTACTCTCATAAACAGTTTTGAATAGGAAAGGTAAGAAATTTTGGCACACAGAGCCCTTAGAAAGTGTTGCAGTAGAGTTTAAAGGAAGATGCGGTCACTGATTCCTCGGGTACTTGATGGGGGTAAGCAGAGTACACCGGCATGAGAGAGACAAGTACAGAAGGGACCTGGCATAAAAGCAGGCTTTTGTTTTTAAATTTTGCCTAAGATCAGCTATACAATGGTATAAAGGAAAAGAAAGGGTCTCAGAGTCAGAAAGCCCTTGGTTTGAAGCCCAGATCTGCCATTTACTGCTTTGAGACTTTGGAT... |
Task1_train_19872 | A variant has been detected on Chromosome 14 in GPHN, RDH12 (gephyrin| retinol dehydrogenase 12). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Leber congenital amaurosis 13 | TCAGAGTCAGGCTGCTGCTCAGCACCCAGGACGGAGAGGAGCAGAGAAGCAGCAGAAGCAGCCAAGAGCTGGAGCCAGACCAGGAACCTGAGCCAGAGCTGGGGTTGAAGCTGGAGCAGCAGCAAAAGCAACAGCAGCTACAGAAGTTGGAACGATGCTGGTCACCTTGGGACTGCTCACCTCCTTCTTCTCGTTCCTGTATATGGTAGCTCCATCCATCAGGTTTGTCTTAATTCAGCAACTCAAACAATCGTTTACAAAGACCTGCACTGGAAGCCGGTTCTCAGCTGCTGAAAGAAGAGAAAGGGAAGGAGGCTGAC... | TCAGAGTCAGGCTGCTGCTCAGCACCCAGGACGGAGAGGAGCAGAGAAGCAGCAGAAGCAGCCAAGAGCTGGAGCCAGACCAGGAACCTGAGCCAGAGCTGGGGTTGAAGCTGGAGCAGCAGCAAAAGCAACAGCAGCTACAGAAGTTGGAACGATGCTGGTCACCTTGGGACTGCTCACCTCCTTCTTCTCGTTCCTGTATATGGTAGCTCCATCCATCAGGTTTGTCTTAATTCAGCAACTCAAACAATCGTTTACAAAGACCTGCACTGGAAGCCGGTTCTCAGCTGCTGAAAGAAGAGAAAGGGAAGGAGGCTGAC... |
Task1_train_19873 | This mutation occurs in GPHN, RDH12 (gephyrin| retinol dehydrogenase 12) on Chromosome 14. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Leber congenital amaurosis 13 | GCTGCTCAGCACCCAGGACGGAGAGGAGCAGAGAAGCAGCAGAAGCAGCCAAGAGCTGGAGCCAGACCAGGAACCTGAGCCAGAGCTGGGGTTGAAGCTGGAGCAGCAGCAAAAGCAACAGCAGCTACAGAAGTTGGAACGATGCTGGTCACCTTGGGACTGCTCACCTCCTTCTTCTCGTTCCTGTATATGGTAGCTCCATCCATCAGGTTTGTCTTAATTCAGCAACTCAAACAATCGTTTACAAAGACCTGCACTGGAAGCCGGTTCTCAGCTGCTGAAAGAAGAGAAAGGGAAGGAGGCTGACAGAGGAGAAAGTC... | GCTGCTCAGCACCCAGGACGGAGAGGAGCAGAGAAGCAGCAGAAGCAGCCAAGAGCTGGAGCCAGACCAGGAACCTGAGCCAGAGCTGGGGTTGAAGCTGGAGCAGCAGCAAAAGCAACAGCAGCTACAGAAGTTGGAACGATGCTGGTCACCTTGGGACTGCTCACCTCCTTCTTCTCGTTCCTGTATATGGTAGCTCCATCCATCAGGTTTGTCTTAATTCAGCAACTCAAACAATCGTTTACAAAGACCTGCACTGGAAGCCGGTTCTCAGCTGCTGAAAGAAGAGAAAGGGAAGGAGGCTGACAGAGGAGAAAGTC... |
Task1_train_19874 | An alteration has been detected in GPHN, RDH12 (gephyrin| retinol dehydrogenase 12) on Chromosome 14. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Leber congenital amaurosis | GCTGCTCAGCACCCAGGACGGAGAGGAGCAGAGAAGCAGCAGAAGCAGCCAAGAGCTGGAGCCAGACCAGGAACCTGAGCCAGAGCTGGGGTTGAAGCTGGAGCAGCAGCAAAAGCAACAGCAGCTACAGAAGTTGGAACGATGCTGGTCACCTTGGGACTGCTCACCTCCTTCTTCTCGTTCCTGTATATGGTAGCTCCATCCATCAGGTTTGTCTTAATTCAGCAACTCAAACAATCGTTTACAAAGACCTGCACTGGAAGCCGGTTCTCAGCTGCTGAAAGAAGAGAAAGGGAAGGAGGCTGACAGAGGAGAAAGTC... | GCTGCTCAGCACCCAGGACGGAGAGGAGCAGAGAAGCAGCAGAAGCAGCCAAGAGCTGGAGCCAGACCAGGAACCTGAGCCAGAGCTGGGGTTGAAGCTGGAGCAGCAGCAAAAGCAACAGCAGCTACAGAAGTTGGAACGATGCTGGTCACCTTGGGACTGCTCACCTCCTTCTTCTCGTTCCTGTATATGGTAGCTCCATCCATCAGGTTTGTCTTAATTCAGCAACTCAAACAATCGTTTACAAAGACCTGCACTGGAAGCCGGTTCTCAGCTGCTGAAAGAAGAGAAAGGGAAGGAGGCTGACAGAGGAGAAAGTC... |
Task1_train_19875 | The gene GPHN, RDH12 (gephyrin| retinol dehydrogenase 12) is located on Chromosome 14, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Retinal dystrophy | GCTGCTCAGCACCCAGGACGGAGAGGAGCAGAGAAGCAGCAGAAGCAGCCAAGAGCTGGAGCCAGACCAGGAACCTGAGCCAGAGCTGGGGTTGAAGCTGGAGCAGCAGCAAAAGCAACAGCAGCTACAGAAGTTGGAACGATGCTGGTCACCTTGGGACTGCTCACCTCCTTCTTCTCGTTCCTGTATATGGTAGCTCCATCCATCAGGTTTGTCTTAATTCAGCAACTCAAACAATCGTTTACAAAGACCTGCACTGGAAGCCGGTTCTCAGCTGCTGAAAGAAGAGAAAGGGAAGGAGGCTGACAGAGGAGAAAGTC... | GCTGCTCAGCACCCAGGACGGAGAGGAGCAGAGAAGCAGCAGAAGCAGCCAAGAGCTGGAGCCAGACCAGGAACCTGAGCCAGAGCTGGGGTTGAAGCTGGAGCAGCAGCAAAAGCAACAGCAGCTACAGAAGTTGGAACGATGCTGGTCACCTTGGGACTGCTCACCTCCTTCTTCTCGTTCCTGTATATGGTAGCTCCATCCATCAGGTTTGTCTTAATTCAGCAACTCAAACAATCGTTTACAAAGACCTGCACTGGAAGCCGGTTCTCAGCTGCTGAAAGAAGAGAAAGGGAAGGAGGCTGACAGAGGAGAAAGTC... |
Task1_train_19876 | This sequence variant lies in GPHN, RDH12 (gephyrin| retinol dehydrogenase 12) on Chromosome 14. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Leber congenital amaurosis 13 | TGGCTTGTCATGCTGTTAAGTACCAGGTAGTTTGGGAAAGAAACAAACTCTTCTGCCTTTGAGACTACCCTCAATTAATGTTTTGGGATGGCTTTTTTGCTGTGGGATTTCTAGAGGTGTCAAATAAAAGTGTGTTCTGAGTGGAGAATTTTTAAATTTCTCTTTTTTAATTTTTGCTCTGTCACCCCAGGGTGGAGTGCATTGGTGTAGTCATAGGTCACTGCAGCCTTGAACTCTTGGGCTCAAGCAACCCTCCTGCCTCAGCCTCCCAAGTAGTTGGGAATATAGGCAGGTGCCACTACACCCAGCTACTTTTTAAA... | TGGCTTGTCATGCTGTTAAGTACCAGGTAGTTTGGGAAAGAAACAAACTCTTCTGCCTTTGAGACTACCCTCAATTAATGTTTTGGGATGGCTTTTTTGCTGTGGGATTTCTAGAGGTGTCAAATAAAAGTGTGTTCTGAGTGGAGAATTTTTAAATTTCTCTTTTTTAATTTTTGCTCTGTCACCCCAGGGTGGAGTGCATTGGTGTAGTCATAGGTCACTGCAGCCTTGAACTCTTGGGCTCAAGCAACCCTCCTGCCTCAGCCTCCCAAGTAGTTGGGAATATAGGCAGGTGCCACTACACCCAGCTACTTTTTAAA... |
Task1_train_19877 | A variant was discovered on Chromosome 14, affecting GPHN, RDH12 (gephyrin| retinol dehydrogenase 12). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Leber congenital amaurosis | TGGCTTGTCATGCTGTTAAGTACCAGGTAGTTTGGGAAAGAAACAAACTCTTCTGCCTTTGAGACTACCCTCAATTAATGTTTTGGGATGGCTTTTTTGCTGTGGGATTTCTAGAGGTGTCAAATAAAAGTGTGTTCTGAGTGGAGAATTTTTAAATTTCTCTTTTTTAATTTTTGCTCTGTCACCCCAGGGTGGAGTGCATTGGTGTAGTCATAGGTCACTGCAGCCTTGAACTCTTGGGCTCAAGCAACCCTCCTGCCTCAGCCTCCCAAGTAGTTGGGAATATAGGCAGGTGCCACTACACCCAGCTACTTTTTAAA... | TGGCTTGTCATGCTGTTAAGTACCAGGTAGTTTGGGAAAGAAACAAACTCTTCTGCCTTTGAGACTACCCTCAATTAATGTTTTGGGATGGCTTTTTTGCTGTGGGATTTCTAGAGGTGTCAAATAAAAGTGTGTTCTGAGTGGAGAATTTTTAAATTTCTCTTTTTTAATTTTTGCTCTGTCACCCCAGGGTGGAGTGCATTGGTGTAGTCATAGGTCACTGCAGCCTTGAACTCTTGGGCTCAAGCAACCCTCCTGCCTCAGCCTCCCAAGTAGTTGGGAATATAGGCAGGTGCCACTACACCCAGCTACTTTTTAAA... |
Task1_train_19878 | A mutation found in GPHN, RDH12 (gephyrin| retinol dehydrogenase 12) on Chromosome 14 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Retinal dystrophy | TGGCTTGTCATGCTGTTAAGTACCAGGTAGTTTGGGAAAGAAACAAACTCTTCTGCCTTTGAGACTACCCTCAATTAATGTTTTGGGATGGCTTTTTTGCTGTGGGATTTCTAGAGGTGTCAAATAAAAGTGTGTTCTGAGTGGAGAATTTTTAAATTTCTCTTTTTTAATTTTTGCTCTGTCACCCCAGGGTGGAGTGCATTGGTGTAGTCATAGGTCACTGCAGCCTTGAACTCTTGGGCTCAAGCAACCCTCCTGCCTCAGCCTCCCAAGTAGTTGGGAATATAGGCAGGTGCCACTACACCCAGCTACTTTTTAAA... | TGGCTTGTCATGCTGTTAAGTACCAGGTAGTTTGGGAAAGAAACAAACTCTTCTGCCTTTGAGACTACCCTCAATTAATGTTTTGGGATGGCTTTTTTGCTGTGGGATTTCTAGAGGTGTCAAATAAAAGTGTGTTCTGAGTGGAGAATTTTTAAATTTCTCTTTTTTAATTTTTGCTCTGTCACCCCAGGGTGGAGTGCATTGGTGTAGTCATAGGTCACTGCAGCCTTGAACTCTTGGGCTCAAGCAACCCTCCTGCCTCAGCCTCCCAAGTAGTTGGGAATATAGGCAGGTGCCACTACACCCAGCTACTTTTTAAA... |
Task1_train_19879 | A mutation on Chromosome 14 affecting GPHN, RDH12 (gephyrin| retinol dehydrogenase 12) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Leber congenital amaurosis 13 | TGGCTTGTCATGCTGTTAAGTACCAGGTAGTTTGGGAAAGAAACAAACTCTTCTGCCTTTGAGACTACCCTCAATTAATGTTTTGGGATGGCTTTTTTGCTGTGGGATTTCTAGAGGTGTCAAATAAAAGTGTGTTCTGAGTGGAGAATTTTTAAATTTCTCTTTTTTAATTTTTGCTCTGTCACCCCAGGGTGGAGTGCATTGGTGTAGTCATAGGTCACTGCAGCCTTGAACTCTTGGGCTCAAGCAACCCTCCTGCCTCAGCCTCCCAAGTAGTTGGGAATATAGGCAGGTGCCACTACACCCAGCTACTTTTTAAA... | TGGCTTGTCATGCTGTTAAGTACCAGGTAGTTTGGGAAAGAAACAAACTCTTCTGCCTTTGAGACTACCCTCAATTAATGTTTTGGGATGGCTTTTTTGCTGTGGGATTTCTAGAGGTGTCAAATAAAAGTGTGTTCTGAGTGGAGAATTTTTAAATTTCTCTTTTTTAATTTTTGCTCTGTCACCCCAGGGTGGAGTGCATTGGTGTAGTCATAGGTCACTGCAGCCTTGAACTCTTGGGCTCAAGCAACCCTCCTGCCTCAGCCTCCCAAGTAGTTGGGAATATAGGCAGGTGCCACTACACCCAGCTACTTTTTAAA... |
Task1_train_19880 | With a mutation on Chromosome 14 in gene GPHN, RDH12 (gephyrin| retinol dehydrogenase 12), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Leber congenital amaurosis 13 | CTGCCTTTGAGACTACCCTCAATTAATGTTTTGGGATGGCTTTTTTGCTGTGGGATTTCTAGAGGTGTCAAATAAAAGTGTGTTCTGAGTGGAGAATTTTTAAATTTCTCTTTTTTAATTTTTGCTCTGTCACCCCAGGGTGGAGTGCATTGGTGTAGTCATAGGTCACTGCAGCCTTGAACTCTTGGGCTCAAGCAACCCTCCTGCCTCAGCCTCCCAAGTAGTTGGGAATATAGGCAGGTGCCACTACACCCAGCTACTTTTTAAATTTTTTGTGGAGATGGGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTC... | CTGCCTTTGAGACTACCCTCAATTAATGTTTTGGGATGGCTTTTTTGCTGTGGGATTTCTAGAGGTGTCAAATAAAAGTGTGTTCTGAGTGGAGAATTTTTAAATTTCTCTTTTTTAATTTTTGCTCTGTCACCCCAGGGTGGAGTGCATTGGTGTAGTCATAGGTCACTGCAGCCTTGAACTCTTGGGCTCAAGCAACCCTCCTGCCTCAGCCTCCCAAGTAGTTGGGAATATAGGCAGGTGCCACTACACCCAGCTACTTTTTAAATTTTTTGTGGAGATGGGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTC... |
Task1_train_19881 | A mutation found in GPHN, RDH12 (gephyrin| retinol dehydrogenase 12) on Chromosome 14 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Leber congenital amaurosis | CTGCCTTTGAGACTACCCTCAATTAATGTTTTGGGATGGCTTTTTTGCTGTGGGATTTCTAGAGGTGTCAAATAAAAGTGTGTTCTGAGTGGAGAATTTTTAAATTTCTCTTTTTTAATTTTTGCTCTGTCACCCCAGGGTGGAGTGCATTGGTGTAGTCATAGGTCACTGCAGCCTTGAACTCTTGGGCTCAAGCAACCCTCCTGCCTCAGCCTCCCAAGTAGTTGGGAATATAGGCAGGTGCCACTACACCCAGCTACTTTTTAAATTTTTTGTGGAGATGGGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTC... | CTGCCTTTGAGACTACCCTCAATTAATGTTTTGGGATGGCTTTTTTGCTGTGGGATTTCTAGAGGTGTCAAATAAAAGTGTGTTCTGAGTGGAGAATTTTTAAATTTCTCTTTTTTAATTTTTGCTCTGTCACCCCAGGGTGGAGTGCATTGGTGTAGTCATAGGTCACTGCAGCCTTGAACTCTTGGGCTCAAGCAACCCTCCTGCCTCAGCCTCCCAAGTAGTTGGGAATATAGGCAGGTGCCACTACACCCAGCTACTTTTTAAATTTTTTGTGGAGATGGGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTC... |
Task1_train_19882 | Here’s a variant in GPHN, RDH12 (gephyrin| retinol dehydrogenase 12) located on Chromosome 14. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Leber congenital amaurosis 13 | TTATCATGCATATGTTTTGAATGTAGGTTAGAGGGGAAAGCTTTCCTCTGGAACCTCTAGAGATAAGAGCTAGATGTATTTATTATCTAACAAGGAAAGTCTCCATTGGCCCTGACTCCAGCATTTACTCTGTTTGCTAATATGATTATTTGTGGCTTCTGGGCAAGTGATCTTCCCACCTGCACCGATAAACAGGCGACTACCTTGCCCCATGGAAAAATGTTGTCCTATGAAGGTTAGCTTTTATGAGTCTCCTGACTGCAACTTAAAGATACCCTTCTTTGAGGCTGGATAGAGTTTTTTTTTTTTTTTTTAACGTA... | TTATCATGCATATGTTTTGAATGTAGGTTAGAGGGGAAAGCTTTCCTCTGGAACCTCTAGAGATAAGAGCTAGATGTATTTATTATCTAACAAGGAAAGTCTCCATTGGCCCTGACTCCAGCATTTACTCTGTTTGCTAATATGATTATTTGTGGCTTCTGGGCAAGTGATCTTCCCACCTGCACCGATAAACAGGCGACTACCTTGCCCCATGGAAAAATGTTGTCCTATGAAGGTTAGCTTTTATGAGTCTCCTGACTGCAACTTAAAGATACCCTTCTTTGAGGCTGGATAGAGTTTTTTTTTTTTTTTTTAACGTA... |
Task1_train_19883 | Here is a mutation in RDH12, GPHN (retinol dehydrogenase 12| gephyrin) on Chromosome 14. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Leber congenital amaurosis 13 | GAACAGTACTACTGTGAAAAGCCCGAAGTGGCAATATGTTCACTCTACCGTTGAAGGATGGCTGGGAGAATGAATGCTCTGTCCCCCAGTCCCAAGCTCACTTACTATACCTCCTTTATAGCCTAGGATATGAACATACTGCTCTTTTTTTGTCTTGGACCCAGGAGCCCGAGTCTATATTGCCTGCAGAGATGTACTGAAGGGGGAGTCTGCTGCCAGTGAAATCCGAGTGGATACAAAGAACTCCCAGGTGCTGGTGCGGAAATTGGACCTATCCGACACCAAATCTATCCGAGCCTTTGCTGAGGGCTTTCTGGCAG... | GAACAGTACTACTGTGAAAAGCCCGAAGTGGCAATATGTTCACTCTACCGTTGAAGGATGGCTGGGAGAATGAATGCTCTGTCCCCCAGTCCCAAGCTCACTTACTATACCTCCTTTATAGCCTAGGATATGAACATACTGCTCTTTTTTTGTCTTGGACCCAGGAGCCCGAGTCTATATTGCCTGCAGAGATGTACTGAAGGGGGAGTCTGCTGCCAGTGAAATCCGAGTGGATACAAAGAACTCCCAGGTGCTGGTGCGGAAATTGGACCTATCCGACACCAAATCTATCCGAGCCTTTGCTGAGGGCTTTCTGGCAG... |
Task1_train_19884 | Chromosome 14 houses a mutation in gene GPHN, RDH12 (gephyrin| retinol dehydrogenase 12). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Retinal dystrophy | GAACAGTACTACTGTGAAAAGCCCGAAGTGGCAATATGTTCACTCTACCGTTGAAGGATGGCTGGGAGAATGAATGCTCTGTCCCCCAGTCCCAAGCTCACTTACTATACCTCCTTTATAGCCTAGGATATGAACATACTGCTCTTTTTTTGTCTTGGACCCAGGAGCCCGAGTCTATATTGCCTGCAGAGATGTACTGAAGGGGGAGTCTGCTGCCAGTGAAATCCGAGTGGATACAAAGAACTCCCAGGTGCTGGTGCGGAAATTGGACCTATCCGACACCAAATCTATCCGAGCCTTTGCTGAGGGCTTTCTGGCAG... | GAACAGTACTACTGTGAAAAGCCCGAAGTGGCAATATGTTCACTCTACCGTTGAAGGATGGCTGGGAGAATGAATGCTCTGTCCCCCAGTCCCAAGCTCACTTACTATACCTCCTTTATAGCCTAGGATATGAACATACTGCTCTTTTTTTGTCTTGGACCCAGGAGCCCGAGTCTATATTGCCTGCAGAGATGTACTGAAGGGGGAGTCTGCTGCCAGTGAAATCCGAGTGGATACAAAGAACTCCCAGGTGCTGGTGCGGAAATTGGACCTATCCGACACCAAATCTATCCGAGCCTTTGCTGAGGGCTTTCTGGCAG... |
Task1_train_19885 | A mutation in GPHN, RDH12 (gephyrin| retinol dehydrogenase 12), located on Chromosome 14, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Leber congenital amaurosis 13 | GAACAGTACTACTGTGAAAAGCCCGAAGTGGCAATATGTTCACTCTACCGTTGAAGGATGGCTGGGAGAATGAATGCTCTGTCCCCCAGTCCCAAGCTCACTTACTATACCTCCTTTATAGCCTAGGATATGAACATACTGCTCTTTTTTTGTCTTGGACCCAGGAGCCCGAGTCTATATTGCCTGCAGAGATGTACTGAAGGGGGAGTCTGCTGCCAGTGAAATCCGAGTGGATACAAAGAACTCCCAGGTGCTGGTGCGGAAATTGGACCTATCCGACACCAAATCTATCCGAGCCTTTGCTGAGGGCTTTCTGGCAG... | GAACAGTACTACTGTGAAAAGCCCGAAGTGGCAATATGTTCACTCTACCGTTGAAGGATGGCTGGGAGAATGAATGCTCTGTCCCCCAGTCCCAAGCTCACTTACTATACCTCCTTTATAGCCTAGGATATGAACATACTGCTCTTTTTTTGTCTTGGACCCAGGAGCCCGAGTCTATATTGCCTGCAGAGATGTACTGAAGGGGGAGTCTGCTGCCAGTGAAATCCGAGTGGATACAAAGAACTCCCAGGTGCTGGTGCGGAAATTGGACCTATCCGACACCAAATCTATCCGAGCCTTTGCTGAGGGCTTTCTGGCAG... |
Task1_train_19886 | This genomic variant is located on Chromosome 14, within the GPHN, RDH12 (gephyrin| retinol dehydrogenase 12) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Leber congenital amaurosis | GTGAAAAGCCCGAAGTGGCAATATGTTCACTCTACCGTTGAAGGATGGCTGGGAGAATGAATGCTCTGTCCCCCAGTCCCAAGCTCACTTACTATACCTCCTTTATAGCCTAGGATATGAACATACTGCTCTTTTTTTGTCTTGGACCCAGGAGCCCGAGTCTATATTGCCTGCAGAGATGTACTGAAGGGGGAGTCTGCTGCCAGTGAAATCCGAGTGGATACAAAGAACTCCCAGGTGCTGGTGCGGAAATTGGACCTATCCGACACCAAATCTATCCGAGCCTTTGCTGAGGGCTTTCTGGCAGGTGAGGTCCTGAT... | GTGAAAAGCCCGAAGTGGCAATATGTTCACTCTACCGTTGAAGGATGGCTGGGAGAATGAATGCTCTGTCCCCCAGTCCCAAGCTCACTTACTATACCTCCTTTATAGCCTAGGATATGAACATACTGCTCTTTTTTTGTCTTGGACCCAGGAGCCCGAGTCTATATTGCCTGCAGAGATGTACTGAAGGGGGAGTCTGCTGCCAGTGAAATCCGAGTGGATACAAAGAACTCCCAGGTGCTGGTGCGGAAATTGGACCTATCCGACACCAAATCTATCCGAGCCTTTGCTGAGGGCTTTCTGGCAGGTGAGGTCCTGAT... |
Task1_train_19887 | This variant impacts the gene GPHN, RDH12 (gephyrin| retinol dehydrogenase 12) on Chromosome 14. Is the change likely to result in a pathogenic outcome? | Pathogenic; See cases | GTGAAAAGCCCGAAGTGGCAATATGTTCACTCTACCGTTGAAGGATGGCTGGGAGAATGAATGCTCTGTCCCCCAGTCCCAAGCTCACTTACTATACCTCCTTTATAGCCTAGGATATGAACATACTGCTCTTTTTTTGTCTTGGACCCAGGAGCCCGAGTCTATATTGCCTGCAGAGATGTACTGAAGGGGGAGTCTGCTGCCAGTGAAATCCGAGTGGATACAAAGAACTCCCAGGTGCTGGTGCGGAAATTGGACCTATCCGACACCAAATCTATCCGAGCCTTTGCTGAGGGCTTTCTGGCAGGTGAGGTCCTGAT... | GTGAAAAGCCCGAAGTGGCAATATGTTCACTCTACCGTTGAAGGATGGCTGGGAGAATGAATGCTCTGTCCCCCAGTCCCAAGCTCACTTACTATACCTCCTTTATAGCCTAGGATATGAACATACTGCTCTTTTTTTGTCTTGGACCCAGGAGCCCGAGTCTATATTGCCTGCAGAGATGTACTGAAGGGGGAGTCTGCTGCCAGTGAAATCCGAGTGGATACAAAGAACTCCCAGGTGCTGGTGCGGAAATTGGACCTATCCGACACCAAATCTATCCGAGCCTTTGCTGAGGGCTTTCTGGCAGGTGAGGTCCTGAT... |
Task1_train_19888 | With a mutation on Chromosome 14 in gene GPHN, RDH12 (gephyrin| retinol dehydrogenase 12), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Leber congenital amaurosis 13 | GTGAAAAGCCCGAAGTGGCAATATGTTCACTCTACCGTTGAAGGATGGCTGGGAGAATGAATGCTCTGTCCCCCAGTCCCAAGCTCACTTACTATACCTCCTTTATAGCCTAGGATATGAACATACTGCTCTTTTTTTGTCTTGGACCCAGGAGCCCGAGTCTATATTGCCTGCAGAGATGTACTGAAGGGGGAGTCTGCTGCCAGTGAAATCCGAGTGGATACAAAGAACTCCCAGGTGCTGGTGCGGAAATTGGACCTATCCGACACCAAATCTATCCGAGCCTTTGCTGAGGGCTTTCTGGCAGGTGAGGTCCTGAT... | GTGAAAAGCCCGAAGTGGCAATATGTTCACTCTACCGTTGAAGGATGGCTGGGAGAATGAATGCTCTGTCCCCCAGTCCCAAGCTCACTTACTATACCTCCTTTATAGCCTAGGATATGAACATACTGCTCTTTTTTTGTCTTGGACCCAGGAGCCCGAGTCTATATTGCCTGCAGAGATGTACTGAAGGGGGAGTCTGCTGCCAGTGAAATCCGAGTGGATACAAAGAACTCCCAGGTGCTGGTGCGGAAATTGGACCTATCCGACACCAAATCTATCCGAGCCTTTGCTGAGGGCTTTCTGGCAGGTGAGGTCCTGAT... |
Task1_train_19889 | This alteration in GPHN, RDH12 (gephyrin| retinol dehydrogenase 12) on Chromosome 14 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Cone-rod dystrophy | GTGAAAAGCCCGAAGTGGCAATATGTTCACTCTACCGTTGAAGGATGGCTGGGAGAATGAATGCTCTGTCCCCCAGTCCCAAGCTCACTTACTATACCTCCTTTATAGCCTAGGATATGAACATACTGCTCTTTTTTTGTCTTGGACCCAGGAGCCCGAGTCTATATTGCCTGCAGAGATGTACTGAAGGGGGAGTCTGCTGCCAGTGAAATCCGAGTGGATACAAAGAACTCCCAGGTGCTGGTGCGGAAATTGGACCTATCCGACACCAAATCTATCCGAGCCTTTGCTGAGGGCTTTCTGGCAGGTGAGGTCCTGAT... | GTGAAAAGCCCGAAGTGGCAATATGTTCACTCTACCGTTGAAGGATGGCTGGGAGAATGAATGCTCTGTCCCCCAGTCCCAAGCTCACTTACTATACCTCCTTTATAGCCTAGGATATGAACATACTGCTCTTTTTTTGTCTTGGACCCAGGAGCCCGAGTCTATATTGCCTGCAGAGATGTACTGAAGGGGGAGTCTGCTGCCAGTGAAATCCGAGTGGATACAAAGAACTCCCAGGTGCTGGTGCGGAAATTGGACCTATCCGACACCAAATCTATCCGAGCCTTTGCTGAGGGCTTTCTGGCAGGTGAGGTCCTGAT... |
Task1_train_19890 | The gene GPHN, RDH12 (gephyrin| retinol dehydrogenase 12), on Chromosome 14, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Retinal dystrophy | GTGAAAAGCCCGAAGTGGCAATATGTTCACTCTACCGTTGAAGGATGGCTGGGAGAATGAATGCTCTGTCCCCCAGTCCCAAGCTCACTTACTATACCTCCTTTATAGCCTAGGATATGAACATACTGCTCTTTTTTTGTCTTGGACCCAGGAGCCCGAGTCTATATTGCCTGCAGAGATGTACTGAAGGGGGAGTCTGCTGCCAGTGAAATCCGAGTGGATACAAAGAACTCCCAGGTGCTGGTGCGGAAATTGGACCTATCCGACACCAAATCTATCCGAGCCTTTGCTGAGGGCTTTCTGGCAGGTGAGGTCCTGAT... | GTGAAAAGCCCGAAGTGGCAATATGTTCACTCTACCGTTGAAGGATGGCTGGGAGAATGAATGCTCTGTCCCCCAGTCCCAAGCTCACTTACTATACCTCCTTTATAGCCTAGGATATGAACATACTGCTCTTTTTTTGTCTTGGACCCAGGAGCCCGAGTCTATATTGCCTGCAGAGATGTACTGAAGGGGGAGTCTGCTGCCAGTGAAATCCGAGTGGATACAAAGAACTCCCAGGTGCTGGTGCGGAAATTGGACCTATCCGACACCAAATCTATCCGAGCCTTTGCTGAGGGCTTTCTGGCAGGTGAGGTCCTGAT... |
Task1_train_19891 | Given a variant located on Chromosome 14 and affecting GPHN, RDH12 (gephyrin| retinol dehydrogenase 12), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Leber congenital amaurosis 13 | GCAATATGTTCACTCTACCGTTGAAGGATGGCTGGGAGAATGAATGCTCTGTCCCCCAGTCCCAAGCTCACTTACTATACCTCCTTTATAGCCTAGGATATGAACATACTGCTCTTTTTTTGTCTTGGACCCAGGAGCCCGAGTCTATATTGCCTGCAGAGATGTACTGAAGGGGGAGTCTGCTGCCAGTGAAATCCGAGTGGATACAAAGAACTCCCAGGTGCTGGTGCGGAAATTGGACCTATCCGACACCAAATCTATCCGAGCCTTTGCTGAGGGCTTTCTGGCAGGTGAGGTCCTGATGGGTAGGTAGAAAAGCA... | GCAATATGTTCACTCTACCGTTGAAGGATGGCTGGGAGAATGAATGCTCTGTCCCCCAGTCCCAAGCTCACTTACTATACCTCCTTTATAGCCTAGGATATGAACATACTGCTCTTTTTTTGTCTTGGACCCAGGAGCCCGAGTCTATATTGCCTGCAGAGATGTACTGAAGGGGGAGTCTGCTGCCAGTGAAATCCGAGTGGATACAAAGAACTCCCAGGTGCTGGTGCGGAAATTGGACCTATCCGACACCAAATCTATCCGAGCCTTTGCTGAGGGCTTTCTGGCAGGTGAGGTCCTGATGGGTAGGTAGAAAAGCA... |
Task1_train_19892 | Here is a mutation in GPHN, RDH12 (gephyrin| retinol dehydrogenase 12) on Chromosome 14. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Retinal dystrophy | GCAATATGTTCACTCTACCGTTGAAGGATGGCTGGGAGAATGAATGCTCTGTCCCCCAGTCCCAAGCTCACTTACTATACCTCCTTTATAGCCTAGGATATGAACATACTGCTCTTTTTTTGTCTTGGACCCAGGAGCCCGAGTCTATATTGCCTGCAGAGATGTACTGAAGGGGGAGTCTGCTGCCAGTGAAATCCGAGTGGATACAAAGAACTCCCAGGTGCTGGTGCGGAAATTGGACCTATCCGACACCAAATCTATCCGAGCCTTTGCTGAGGGCTTTCTGGCAGGTGAGGTCCTGATGGGTAGGTAGAAAAGCA... | GCAATATGTTCACTCTACCGTTGAAGGATGGCTGGGAGAATGAATGCTCTGTCCCCCAGTCCCAAGCTCACTTACTATACCTCCTTTATAGCCTAGGATATGAACATACTGCTCTTTTTTTGTCTTGGACCCAGGAGCCCGAGTCTATATTGCCTGCAGAGATGTACTGAAGGGGGAGTCTGCTGCCAGTGAAATCCGAGTGGATACAAAGAACTCCCAGGTGCTGGTGCGGAAATTGGACCTATCCGACACCAAATCTATCCGAGCCTTTGCTGAGGGCTTTCTGGCAGGTGAGGTCCTGATGGGTAGGTAGAAAAGCA... |
Task1_train_19893 | Given a variant located on Chromosome 14 and affecting GPHN, RDH12 (gephyrin| retinol dehydrogenase 12), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Leber congenital amaurosis 13 | AATGCTCTGTCCCCCAGTCCCAAGCTCACTTACTATACCTCCTTTATAGCCTAGGATATGAACATACTGCTCTTTTTTTGTCTTGGACCCAGGAGCCCGAGTCTATATTGCCTGCAGAGATGTACTGAAGGGGGAGTCTGCTGCCAGTGAAATCCGAGTGGATACAAAGAACTCCCAGGTGCTGGTGCGGAAATTGGACCTATCCGACACCAAATCTATCCGAGCCTTTGCTGAGGGCTTTCTGGCAGGTGAGGTCCTGATGGGTAGGTAGAAAAGCAGGAAATTGGGTATGGGAGTGGCTGCTCCACCCTAGACCATCT... | AATGCTCTGTCCCCCAGTCCCAAGCTCACTTACTATACCTCCTTTATAGCCTAGGATATGAACATACTGCTCTTTTTTTGTCTTGGACCCAGGAGCCCGAGTCTATATTGCCTGCAGAGATGTACTGAAGGGGGAGTCTGCTGCCAGTGAAATCCGAGTGGATACAAAGAACTCCCAGGTGCTGGTGCGGAAATTGGACCTATCCGACACCAAATCTATCCGAGCCTTTGCTGAGGGCTTTCTGGCAGGTGAGGTCCTGATGGGTAGGTAGAAAAGCAGGAAATTGGGTATGGGAGTGGCTGCTCCACCCTAGACCATCT... |
Task1_train_19894 | A genomic change on Chromosome 14 affects GPHN, RDH12 (gephyrin| retinol dehydrogenase 12). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Leber congenital amaurosis 13 | CCCAGTCCCAAGCTCACTTACTATACCTCCTTTATAGCCTAGGATATGAACATACTGCTCTTTTTTTGTCTTGGACCCAGGAGCCCGAGTCTATATTGCCTGCAGAGATGTACTGAAGGGGGAGTCTGCTGCCAGTGAAATCCGAGTGGATACAAAGAACTCCCAGGTGCTGGTGCGGAAATTGGACCTATCCGACACCAAATCTATCCGAGCCTTTGCTGAGGGCTTTCTGGCAGGTGAGGTCCTGATGGGTAGGTAGAAAAGCAGGAAATTGGGTATGGGAGTGGCTGCTCCACCCTAGACCATCTATGGCCCTTACA... | CCCAGTCCCAAGCTCACTTACTATACCTCCTTTATAGCCTAGGATATGAACATACTGCTCTTTTTTTGTCTTGGACCCAGGAGCCCGAGTCTATATTGCCTGCAGAGATGTACTGAAGGGGGAGTCTGCTGCCAGTGAAATCCGAGTGGATACAAAGAACTCCCAGGTGCTGGTGCGGAAATTGGACCTATCCGACACCAAATCTATCCGAGCCTTTGCTGAGGGCTTTCTGGCAGGTGAGGTCCTGATGGGTAGGTAGAAAAGCAGGAAATTGGGTATGGGAGTGGCTGCTCCACCCTAGACCATCTATGGCCCTTACA... |
Task1_train_19895 | This sequence change occurs on Chromosome 14, altering RDH12, GPHN (retinol dehydrogenase 12| gephyrin). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Retinitis pigmentosa | TTTGTCTTGGACCCAGGAGCCCGAGTCTATATTGCCTGCAGAGATGTACTGAAGGGGGAGTCTGCTGCCAGTGAAATCCGAGTGGATACAAAGAACTCCCAGGTGCTGGTGCGGAAATTGGACCTATCCGACACCAAATCTATCCGAGCCTTTGCTGAGGGCTTTCTGGCAGGTGAGGTCCTGATGGGTAGGTAGAAAAGCAGGAAATTGGGTATGGGAGTGGCTGCTCCACCCTAGACCATCTATGGCCCTTACATCAGAACCATCATCCACCCCACTAGACAGGTTCTGCCACATGAACCAGCAGGACAGGGAATTGG... | TTTGTCTTGGACCCAGGAGCCCGAGTCTATATTGCCTGCAGAGATGTACTGAAGGGGGAGTCTGCTGCCAGTGAAATCCGAGTGGATACAAAGAACTCCCAGGTGCTGGTGCGGAAATTGGACCTATCCGACACCAAATCTATCCGAGCCTTTGCTGAGGGCTTTCTGGCAGGTGAGGTCCTGATGGGTAGGTAGAAAAGCAGGAAATTGGGTATGGGAGTGGCTGCTCCACCCTAGACCATCTATGGCCCTTACATCAGAACCATCATCCACCCCACTAGACAGGTTCTGCCACATGAACCAGCAGGACAGGGAATTGG... |
Task1_train_19896 | A variant on Chromosome 14 in gene GPHN, RDH12 (gephyrin| retinol dehydrogenase 12) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Retinal dystrophy | TTTGTCTTGGACCCAGGAGCCCGAGTCTATATTGCCTGCAGAGATGTACTGAAGGGGGAGTCTGCTGCCAGTGAAATCCGAGTGGATACAAAGAACTCCCAGGTGCTGGTGCGGAAATTGGACCTATCCGACACCAAATCTATCCGAGCCTTTGCTGAGGGCTTTCTGGCAGGTGAGGTCCTGATGGGTAGGTAGAAAAGCAGGAAATTGGGTATGGGAGTGGCTGCTCCACCCTAGACCATCTATGGCCCTTACATCAGAACCATCATCCACCCCACTAGACAGGTTCTGCCACATGAACCAGCAGGACAGGGAATTGG... | TTTGTCTTGGACCCAGGAGCCCGAGTCTATATTGCCTGCAGAGATGTACTGAAGGGGGAGTCTGCTGCCAGTGAAATCCGAGTGGATACAAAGAACTCCCAGGTGCTGGTGCGGAAATTGGACCTATCCGACACCAAATCTATCCGAGCCTTTGCTGAGGGCTTTCTGGCAGGTGAGGTCCTGATGGGTAGGTAGAAAAGCAGGAAATTGGGTATGGGAGTGGCTGCTCCACCCTAGACCATCTATGGCCCTTACATCAGAACCATCATCCACCCCACTAGACAGGTTCTGCCACATGAACCAGCAGGACAGGGAATTGG... |
Task1_train_19897 | The following genetic variant occurs in GPHN, RDH12 (gephyrin| retinol dehydrogenase 12) on Chromosome 14. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Leber congenital amaurosis 13 | ACCCAGGAGCCCGAGTCTATATTGCCTGCAGAGATGTACTGAAGGGGGAGTCTGCTGCCAGTGAAATCCGAGTGGATACAAAGAACTCCCAGGTGCTGGTGCGGAAATTGGACCTATCCGACACCAAATCTATCCGAGCCTTTGCTGAGGGCTTTCTGGCAGGTGAGGTCCTGATGGGTAGGTAGAAAAGCAGGAAATTGGGTATGGGAGTGGCTGCTCCACCCTAGACCATCTATGGCCCTTACATCAGAACCATCATCCACCCCACTAGACAGGTTCTGCCACATGAACCAGCAGGACAGGGAATTGGCAAGAGGATG... | ACCCAGGAGCCCGAGTCTATATTGCCTGCAGAGATGTACTGAAGGGGGAGTCTGCTGCCAGTGAAATCCGAGTGGATACAAAGAACTCCCAGGTGCTGGTGCGGAAATTGGACCTATCCGACACCAAATCTATCCGAGCCTTTGCTGAGGGCTTTCTGGCAGGTGAGGTCCTGATGGGTAGGTAGAAAAGCAGGAAATTGGGTATGGGAGTGGCTGCTCCACCCTAGACCATCTATGGCCCTTACATCAGAACCATCATCCACCCCACTAGACAGGTTCTGCCACATGAACCAGCAGGACAGGGAATTGGCAAGAGGATG... |
Task1_train_19898 | Located on Chromosome 14, this mutation impacts GPHN, RDH12 (gephyrin| retinol dehydrogenase 12). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Retinal dystrophy | ACCCAGGAGCCCGAGTCTATATTGCCTGCAGAGATGTACTGAAGGGGGAGTCTGCTGCCAGTGAAATCCGAGTGGATACAAAGAACTCCCAGGTGCTGGTGCGGAAATTGGACCTATCCGACACCAAATCTATCCGAGCCTTTGCTGAGGGCTTTCTGGCAGGTGAGGTCCTGATGGGTAGGTAGAAAAGCAGGAAATTGGGTATGGGAGTGGCTGCTCCACCCTAGACCATCTATGGCCCTTACATCAGAACCATCATCCACCCCACTAGACAGGTTCTGCCACATGAACCAGCAGGACAGGGAATTGGCAAGAGGATG... | ACCCAGGAGCCCGAGTCTATATTGCCTGCAGAGATGTACTGAAGGGGGAGTCTGCTGCCAGTGAAATCCGAGTGGATACAAAGAACTCCCAGGTGCTGGTGCGGAAATTGGACCTATCCGACACCAAATCTATCCGAGCCTTTGCTGAGGGCTTTCTGGCAGGTGAGGTCCTGATGGGTAGGTAGAAAAGCAGGAAATTGGGTATGGGAGTGGCTGCTCCACCCTAGACCATCTATGGCCCTTACATCAGAACCATCATCCACCCCACTAGACAGGTTCTGCCACATGAACCAGCAGGACAGGGAATTGGCAAGAGGATG... |
Task1_train_19899 | A variant was discovered on Chromosome 14, affecting GPHN, RDH12 (gephyrin| retinol dehydrogenase 12). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Leber congenital amaurosis 13 | CCGAGTCTATATTGCCTGCAGAGATGTACTGAAGGGGGAGTCTGCTGCCAGTGAAATCCGAGTGGATACAAAGAACTCCCAGGTGCTGGTGCGGAAATTGGACCTATCCGACACCAAATCTATCCGAGCCTTTGCTGAGGGCTTTCTGGCAGGTGAGGTCCTGATGGGTAGGTAGAAAAGCAGGAAATTGGGTATGGGAGTGGCTGCTCCACCCTAGACCATCTATGGCCCTTACATCAGAACCATCATCCACCCCACTAGACAGGTTCTGCCACATGAACCAGCAGGACAGGGAATTGGCAAGAGGATGGTGGGTAGAT... | CCGAGTCTATATTGCCTGCAGAGATGTACTGAAGGGGGAGTCTGCTGCCAGTGAAATCCGAGTGGATACAAAGAACTCCCAGGTGCTGGTGCGGAAATTGGACCTATCCGACACCAAATCTATCCGAGCCTTTGCTGAGGGCTTTCTGGCAGGTGAGGTCCTGATGGGTAGGTAGAAAAGCAGGAAATTGGGTATGGGAGTGGCTGCTCCACCCTAGACCATCTATGGCCCTTACATCAGAACCATCATCCACCCCACTAGACAGGTTCTGCCACATGAACCAGCAGGACAGGGAATTGGCAAGAGGATGGTGGGTAGAT... |
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