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_5600 | Given this context: Chromosome 2, gene COL4A4 (collagen type IV alpha 4 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Autosomal recessive Alport syndrome | TGTGCTATTCTTGTGATAGTGAATGAGTCTCACAAGATAATGGTTTTAAAAAATAGGAGTTTCCCTGTACAAACTCTCTCTTTGCCTGCTGCCATCCATGTAAGACGTGACTTGCTCCTTCTTGCCTTCTGCCATGATTGTGAGGCCTCCCCAGCCACGTGGAACTGTAAGTCCATTTAACCTCTTTCTTTTGTAAATTGTCCAGTCTTGGATATGTCTTTATCAGCAACATGAAAAACAGACTAATGTAACAATTGAATAAAAAATTAACTGTATCTCTTCTAAAAATTACATTCTTGAATGATTCCTGGCAATACTTC... | TGTGCTATTCTTGTGATAGTGAATGAGTCTCACAAGATAATGGTTTTAAAAAATAGGAGTTTCCCTGTACAAACTCTCTCTTTGCCTGCTGCCATCCATGTAAGACGTGACTTGCTCCTTCTTGCCTTCTGCCATGATTGTGAGGCCTCCCCAGCCACGTGGAACTGTAAGTCCATTTAACCTCTTTCTTTTGTAAATTGTCCAGTCTTGGATATGTCTTTATCAGCAACATGAAAAACAGACTAATGTAACAATTGAATAAAAAATTAACTGTATCTCTTCTAAAAATTACATTCTTGAATGATTCCTGGCAATACTTC... |
Task1_train_5601 | A variant on Chromosome 2 in gene COL4A4 (collagen type IV alpha 4 chain) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hematuria, benign familial, 1 | AAATGAAATTCAAATAAAACATAAGTGGAGTTATAGAAGCAATAGCTGATCATGGGAATAATGAGATTGTTGTCATTTGAGAGACTATTTGCAGCCAGAGGAACTTAGTAAAGAGAAACCAGGAAAGTGGTTGTGATGAAAAGGATGACAGCGTCCTAGGTAAAGTGACACAGATGAAAACTTCACATTAAAGGAACCCTGAGAGATATTTCACAACACTGGAAACAGATCCGAACTTAGGAGTATCATACTTCCTCAAAACATAAAAGACATATTCCTTTAGTATCACAAGTTACATGATGAGAAAAAGGCAAGTACTG... | AAATGAAATTCAAATAAAACATAAGTGGAGTTATAGAAGCAATAGCTGATCATGGGAATAATGAGATTGTTGTCATTTGAGAGACTATTTGCAGCCAGAGGAACTTAGTAAAGAGAAACCAGGAAAGTGGTTGTGATGAAAAGGATGACAGCGTCCTAGGTAAAGTGACACAGATGAAAACTTCACATTAAAGGAACCCTGAGAGATATTTCACAACACTGGAAACAGATCCGAACTTAGGAGTATCATACTTCCTCAAAACATAAAAGACATATTCCTTTAGTATCACAAGTTACATGATGAGAAAAAGGCAAGTACTG... |
Task1_train_5602 | A variant was discovered on Chromosome 2, affecting COL4A4 (collagen type IV alpha 4 chain). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Autosomal recessive Alport syndrome | AAATGAAATTCAAATAAAACATAAGTGGAGTTATAGAAGCAATAGCTGATCATGGGAATAATGAGATTGTTGTCATTTGAGAGACTATTTGCAGCCAGAGGAACTTAGTAAAGAGAAACCAGGAAAGTGGTTGTGATGAAAAGGATGACAGCGTCCTAGGTAAAGTGACACAGATGAAAACTTCACATTAAAGGAACCCTGAGAGATATTTCACAACACTGGAAACAGATCCGAACTTAGGAGTATCATACTTCCTCAAAACATAAAAGACATATTCCTTTAGTATCACAAGTTACATGATGAGAAAAAGGCAAGTACTG... | AAATGAAATTCAAATAAAACATAAGTGGAGTTATAGAAGCAATAGCTGATCATGGGAATAATGAGATTGTTGTCATTTGAGAGACTATTTGCAGCCAGAGGAACTTAGTAAAGAGAAACCAGGAAAGTGGTTGTGATGAAAAGGATGACAGCGTCCTAGGTAAAGTGACACAGATGAAAACTTCACATTAAAGGAACCCTGAGAGATATTTCACAACACTGGAAACAGATCCGAACTTAGGAGTATCATACTTCCTCAAAACATAAAAGACATATTCCTTTAGTATCACAAGTTACATGATGAGAAAAAGGCAAGTACTG... |
Task1_train_5603 | Here is a mutation in COL4A4 (collagen type IV alpha 4 chain) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Benign familial hematuria | AAATGAAATTCAAATAAAACATAAGTGGAGTTATAGAAGCAATAGCTGATCATGGGAATAATGAGATTGTTGTCATTTGAGAGACTATTTGCAGCCAGAGGAACTTAGTAAAGAGAAACCAGGAAAGTGGTTGTGATGAAAAGGATGACAGCGTCCTAGGTAAAGTGACACAGATGAAAACTTCACATTAAAGGAACCCTGAGAGATATTTCACAACACTGGAAACAGATCCGAACTTAGGAGTATCATACTTCCTCAAAACATAAAAGACATATTCCTTTAGTATCACAAGTTACATGATGAGAAAAAGGCAAGTACTG... | AAATGAAATTCAAATAAAACATAAGTGGAGTTATAGAAGCAATAGCTGATCATGGGAATAATGAGATTGTTGTCATTTGAGAGACTATTTGCAGCCAGAGGAACTTAGTAAAGAGAAACCAGGAAAGTGGTTGTGATGAAAAGGATGACAGCGTCCTAGGTAAAGTGACACAGATGAAAACTTCACATTAAAGGAACCCTGAGAGATATTTCACAACACTGGAAACAGATCCGAACTTAGGAGTATCATACTTCCTCAAAACATAAAAGACATATTCCTTTAGTATCACAAGTTACATGATGAGAAAAAGGCAAGTACTG... |
Task1_train_5604 | This sequence variant lies in COL4A4 (collagen type IV alpha 4 chain) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Benign familial hematuria | GAAGCAATAGCTGATCATGGGAATAATGAGATTGTTGTCATTTGAGAGACTATTTGCAGCCAGAGGAACTTAGTAAAGAGAAACCAGGAAAGTGGTTGTGATGAAAAGGATGACAGCGTCCTAGGTAAAGTGACACAGATGAAAACTTCACATTAAAGGAACCCTGAGAGATATTTCACAACACTGGAAACAGATCCGAACTTAGGAGTATCATACTTCCTCAAAACATAAAAGACATATTCCTTTAGTATCACAAGTTACATGATGAGAAAAAGGCAAGTACTGTTGAAACTACTCTTGATAAGTTTTTACAAAGAAAT... | GAAGCAATAGCTGATCATGGGAATAATGAGATTGTTGTCATTTGAGAGACTATTTGCAGCCAGAGGAACTTAGTAAAGAGAAACCAGGAAAGTGGTTGTGATGAAAAGGATGACAGCGTCCTAGGTAAAGTGACACAGATGAAAACTTCACATTAAAGGAACCCTGAGAGATATTTCACAACACTGGAAACAGATCCGAACTTAGGAGTATCATACTTCCTCAAAACATAAAAGACATATTCCTTTAGTATCACAAGTTACATGATGAGAAAAAGGCAAGTACTGTTGAAACTACTCTTGATAAGTTTTTACAAAGAAAT... |
Task1_train_5605 | Here’s a variant in COL4A4 (collagen type IV alpha 4 chain) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hematuria, benign familial, 1 | GAAGCAATAGCTGATCATGGGAATAATGAGATTGTTGTCATTTGAGAGACTATTTGCAGCCAGAGGAACTTAGTAAAGAGAAACCAGGAAAGTGGTTGTGATGAAAAGGATGACAGCGTCCTAGGTAAAGTGACACAGATGAAAACTTCACATTAAAGGAACCCTGAGAGATATTTCACAACACTGGAAACAGATCCGAACTTAGGAGTATCATACTTCCTCAAAACATAAAAGACATATTCCTTTAGTATCACAAGTTACATGATGAGAAAAAGGCAAGTACTGTTGAAACTACTCTTGATAAGTTTTTACAAAGAAAT... | GAAGCAATAGCTGATCATGGGAATAATGAGATTGTTGTCATTTGAGAGACTATTTGCAGCCAGAGGAACTTAGTAAAGAGAAACCAGGAAAGTGGTTGTGATGAAAAGGATGACAGCGTCCTAGGTAAAGTGACACAGATGAAAACTTCACATTAAAGGAACCCTGAGAGATATTTCACAACACTGGAAACAGATCCGAACTTAGGAGTATCATACTTCCTCAAAACATAAAAGACATATTCCTTTAGTATCACAAGTTACATGATGAGAAAAAGGCAAGTACTGTTGAAACTACTCTTGATAAGTTTTTACAAAGAAAT... |
Task1_train_5606 | A variant was discovered on Chromosome 2, affecting COL4A4 (collagen type IV alpha 4 chain). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Autosomal recessive Alport syndrome | GAAGCAATAGCTGATCATGGGAATAATGAGATTGTTGTCATTTGAGAGACTATTTGCAGCCAGAGGAACTTAGTAAAGAGAAACCAGGAAAGTGGTTGTGATGAAAAGGATGACAGCGTCCTAGGTAAAGTGACACAGATGAAAACTTCACATTAAAGGAACCCTGAGAGATATTTCACAACACTGGAAACAGATCCGAACTTAGGAGTATCATACTTCCTCAAAACATAAAAGACATATTCCTTTAGTATCACAAGTTACATGATGAGAAAAAGGCAAGTACTGTTGAAACTACTCTTGATAAGTTTTTACAAAGAAAT... | GAAGCAATAGCTGATCATGGGAATAATGAGATTGTTGTCATTTGAGAGACTATTTGCAGCCAGAGGAACTTAGTAAAGAGAAACCAGGAAAGTGGTTGTGATGAAAAGGATGACAGCGTCCTAGGTAAAGTGACACAGATGAAAACTTCACATTAAAGGAACCCTGAGAGATATTTCACAACACTGGAAACAGATCCGAACTTAGGAGTATCATACTTCCTCAAAACATAAAAGACATATTCCTTTAGTATCACAAGTTACATGATGAGAAAAAGGCAAGTACTGTTGAAACTACTCTTGATAAGTTTTTACAAAGAAAT... |
Task1_train_5607 | A variant found in Chromosome 2 affects COL4A4 (collagen type IV alpha 4 chain). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Benign familial hematuria | TTTTTCCATTCCATTTTCATATGAGAAATGGGAGTATTAAGCTCACTACAAATATTAGGACTCATCAGCAAATAAAAACATTCCTTATGAGTATGCATTAATTTCAAGAACATTGTACTTGACATAACAAGTATACCTAGCTCATATTTTGGAATTTTTTCTCTAACCTGTTAGAAAACGTTGCTTTCCAAGTAAAGTGTTTTGCTCTGGGAGTTATTGTACAAAATTTAAATGTAAACACCCTTTCATGCACTAAAATGAGAAAATATAAAAAGAGTTTGCTATGTATAATATATACCATGCACCATAACATATATATA... | TTTTTCCATTCCATTTTCATATGAGAAATGGGAGTATTAAGCTCACTACAAATATTAGGACTCATCAGCAAATAAAAACATTCCTTATGAGTATGCATTAATTTCAAGAACATTGTACTTGACATAACAAGTATACCTAGCTCATATTTTGGAATTTTTTCTCTAACCTGTTAGAAAACGTTGCTTTCCAAGTAAAGTGTTTTGCTCTGGGAGTTATTGTACAAAATTTAAATGTAAACACCCTTTCATGCACTAAAATGAGAAAATATAAAAAGAGTTTGCTATGTATAATATATACCATGCACCATAACATATATATA... |
Task1_train_5608 | Gene COL4A3, LOC129935730 (collagen type IV alpha 3 chain| ATAC-STARR-seq lymphoblastoid silent region 12397), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | GTGAAATTTTCACATGTTCGTGAAAACAGGAGCTCTCATACTTGATTGTGCATGGGAATGTACAGGAAATTTTAAAACAGCTAGAGAGTCTGATAAAATTGGCTTGGAATGGTCTGGGTAGCAACATTGTTTTATCCTCCCAAAGATTCTAATGCACAACGATAGTTGAGAATCACTGGCATAAAAGACAGAAAGAAGACTGTAAGATTCATGCTATAGTCAAAATAAAAAGAATGGGAGGAGTGTCTTCATTCACTGTTAGGGTTTTGCCTACCTGCATGGCTACAAAGTTCTAAGATACCAATAGATCCCAAATTTAA... | GTGAAATTTTCACATGTTCGTGAAAACAGGAGCTCTCATACTTGATTGTGCATGGGAATGTACAGGAAATTTTAAAACAGCTAGAGAGTCTGATAAAATTGGCTTGGAATGGTCTGGGTAGCAACATTGTTTTATCCTCCCAAAGATTCTAATGCACAACGATAGTTGAGAATCACTGGCATAAAAGACAGAAAGAAGACTGTAAGATTCATGCTATAGTCAAAATAAAAAGAATGGGAGGAGTGTCTTCATTCACTGTTAGGGTTTTGCCTACCTGCATGGCTACAAAGTTCTAAGATACCAATAGATCCCAAATTTAA... |
Task1_train_5609 | A variant was discovered in gene COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not provided | AACCACCACCTCCCGGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACACGCATGGGCCACCATGCCCTGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATCCACCAACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCAACACGCCCAGCCAATTAACCAGAATTATTTTAACTTAGTTCAGAATTATATGTAAAAATTCCTGGGTAGAGATGGGATATTTGCCTAAGTGAGTTTGAGGTGAGGCTGTTG... | AACCACCACCTCCCGGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACACGCATGGGCCACCATGCCCTGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATCCACCAACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCAACACGCCCAGCCAATTAACCAGAATTATTTTAACTTAGTTCAGAATTATATGTAAAAATTCCTGGGTAGAGATGGGATATTTGCCTAAGTGAGTTTGAGGTGAGGCTGTTG... |
Task1_train_5610 | This is a variant in MFF-DT, COL4A3 (MFF divergent transcript| collagen type IV alpha 3 chain), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | CCACACTATATCTTTTATACATATATTTAAATATAGGCAGACCTGGGGTCCAAGGAATTACCAATATTTCAAATAAATAAATAAATGGACTGTAAACACCTTCCTTTTTCTAGGCTTCCTTATTTACTTCTCTGCCCAGTGTGTGTGTGTTTTTTTTTTCCCTTCCAAGTTTAGAATGAACAGCATCAGCTCTAATTTAAGTTTGGCTGTTAATGTCCTTCCTTCCTTCTCTGACTTTCTCCAGTTTCCCATTCTGACTGGCTTCTGCTTTCCCTGGAAAGAGAGGGCCATTGTGTATTCTGTGGTTAATAGTTTTTCCT... | CCACACTATATCTTTTATACATATATTTAAATATAGGCAGACCTGGGGTCCAAGGAATTACCAATATTTCAAATAAATAAATAAATGGACTGTAAACACCTTCCTTTTTCTAGGCTTCCTTATTTACTTCTCTGCCCAGTGTGTGTGTGTTTTTTTTTTCCCTTCCAAGTTTAGAATGAACAGCATCAGCTCTAATTTAAGTTTGGCTGTTAATGTCCTTCCTTCCTTCTCTGACTTTCTCCAGTTTCCCATTCTGACTGGCTTCTGCTTTCCCTGGAAAGAGAGGGCCATTGTGTATTCTGTGGTTAATAGTTTTTCCT... |
Task1_train_5611 | Located on Chromosome 2, this mutation impacts COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Autosomal dominant Alport syndrome | CCACACTATATCTTTTATACATATATTTAAATATAGGCAGACCTGGGGTCCAAGGAATTACCAATATTTCAAATAAATAAATAAATGGACTGTAAACACCTTCCTTTTTCTAGGCTTCCTTATTTACTTCTCTGCCCAGTGTGTGTGTGTTTTTTTTTTCCCTTCCAAGTTTAGAATGAACAGCATCAGCTCTAATTTAAGTTTGGCTGTTAATGTCCTTCCTTCCTTCTCTGACTTTCTCCAGTTTCCCATTCTGACTGGCTTCTGCTTTCCCTGGAAAGAGAGGGCCATTGTGTATTCTGTGGTTAATAGTTTTTCCT... | CCACACTATATCTTTTATACATATATTTAAATATAGGCAGACCTGGGGTCCAAGGAATTACCAATATTTCAAATAAATAAATAAATGGACTGTAAACACCTTCCTTTTTCTAGGCTTCCTTATTTACTTCTCTGCCCAGTGTGTGTGTGTTTTTTTTTTCCCTTCCAAGTTTAGAATGAACAGCATCAGCTCTAATTTAAGTTTGGCTGTTAATGTCCTTCCTTCCTTCTCTGACTTTCTCCAGTTTCCCATTCTGACTGGCTTCTGCTTTCCCTGGAAAGAGAGGGCCATTGTGTATTCTGTGGTTAATAGTTTTTCCT... |
Task1_train_5612 | A genetic alteration is present in COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Autosomal recessive Alport syndrome | CACGGGTAAATATTTCTATTTGGTCCCTGGAAGGCACTAGTGATGCCCATGATGGGCTATGGAAGAGAAGAAAAGCTTTGTCTAAGCAGCCCAGGCCCAAGGTGATCCTGCCCCTTCAGGGTAGAGGACAGTGAGACAACAAGGGATGAAGAAGTCAACTTCTCCTCCCTCCACCTGGGCCCGGGTTATGACAACGTGTTTAATACATGGTCAGCAAAAAGCAATCATTCCGGCCCAAGCTCTGTGTAGCAGGCAGTGCTCCCCTTCCCAGTGGACATGTATTTGATGTCAGCTCCTAACTGCAGAGCAGCCACATTTTA... | CACGGGTAAATATTTCTATTTGGTCCCTGGAAGGCACTAGTGATGCCCATGATGGGCTATGGAAGAGAAGAAAAGCTTTGTCTAAGCAGCCCAGGCCCAAGGTGATCCTGCCCCTTCAGGGTAGAGGACAGTGAGACAACAAGGGATGAAGAAGTCAACTTCTCCTCCCTCCACCTGGGCCCGGGTTATGACAACGTGTTTAATACATGGTCAGCAAAAAGCAATCATTCCGGCCCAAGCTCTGTGTAGCAGGCAGTGCTCCCCTTCCCAGTGGACATGTATTTGATGTCAGCTCCTAACTGCAGAGCAGCCACATTTTA... |
Task1_train_5613 | Given this context: Chromosome 2, gene COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | GATACCTACATTACACTTTTTCTGTAAAGTTCTAAACTTTCGTCTCTGACTCATTAGAGTGTTTACCTTTTGAGAGAGGAAAAAGAGTTGGATCAGGGATGGTCCACAGGGACTCATCAAGTATAACTGTAGTGTGTTCTTTTTAACGAAAACAAAACTAAGAAAAAAGAGCAAAATTTGATAAACTACTGGGCATGTGCCCTGCCACTGATCATATTTTTCTCTATATGATGTTGTATATTATACTACTTCATAATTTTGAAAATTAATCAAAATAAAGCAGACTGCAGAACTATAAGTATACTATAATTTCACTATTA... | GATACCTACATTACACTTTTTCTGTAAAGTTCTAAACTTTCGTCTCTGACTCATTAGAGTGTTTACCTTTTGAGAGAGGAAAAAGAGTTGGATCAGGGATGGTCCACAGGGACTCATCAAGTATAACTGTAGTGTGTTCTTTTTAACGAAAACAAAACTAAGAAAAAAGAGCAAAATTTGATAAACTACTGGGCATGTGCCCTGCCACTGATCATATTTTTCTCTATATGATGTTGTATATTATACTACTTCATAATTTTGAAAATTAATCAAAATAAAGCAGACTGCAGAACTATAAGTATACTATAATTTCACTATTA... |
Task1_train_5614 | Gene COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Alport syndrome | GTGAGCAGCTCACTGATGCTGACCACTTATTGCATTGTTGCATTTTCCATAGTTTCTCTACATTTGGCCTATCCAGGTGCAGCTCAAAGAAGATATGTAAGCAGTAAAATGGTTTGGATCACTATAAAAAGATACACCCCAGCTCAAGATCTTGCAAAAAATAGAATCTGAATAAATATGTGTTGATTAACTGACCAGAGACCCACCCAGAAGGTCATTTAAAGGGATCATCTTGATAGAGATATTTAAATACCTATGGGAAGTATAAAATTGTACAATAAAATGCAATTTGGCAAGAGACATTCAAAACCTTAGAAAAG... | GTGAGCAGCTCACTGATGCTGACCACTTATTGCATTGTTGCATTTTCCATAGTTTCTCTACATTTGGCCTATCCAGGTGCAGCTCAAAGAAGATATGTAAGCAGTAAAATGGTTTGGATCACTATAAAAAGATACACCCCAGCTCAAGATCTTGCAAAAAATAGAATCTGAATAAATATGTGTTGATTAACTGACCAGAGACCCACCCAGAAGGTCATTTAAAGGGATCATCTTGATAGAGATATTTAAATACCTATGGGAAGTATAAAATTGTACAATAAAATGCAATTTGGCAAGAGACATTCAAAACCTTAGAAAAG... |
Task1_train_5615 | This sequence change occurs on Chromosome 2, altering COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hematuria | GCAACTTTACCCTCCCTATAAATGAAGTACTCTGAAGTTAAGAGATAAAGTGATTTCTTTTCCAAAAATGGTTGGCCGCTCAGCACAGTTCATCACTCTAACTGCAGAATGAAACATCTTCAAATTAGCAGGAATAACCCAAGCAAATAGTTATAGTATTTTGACAGAATAAATAGGTAGCATTCAGTGATTTCAACCAATCAAAATTCTACATTGATAATGACCCCATCTCATACACAAATTACAGTTCCATATTTGTATCAAATGAGTCTATGGAAAAGTTCAGAAAATGATGTATAGTAGAAAGTTTAGTAAATATT... | GCAACTTTACCCTCCCTATAAATGAAGTACTCTGAAGTTAAGAGATAAAGTGATTTCTTTTCCAAAAATGGTTGGCCGCTCAGCACAGTTCATCACTCTAACTGCAGAATGAAACATCTTCAAATTAGCAGGAATAACCCAAGCAAATAGTTATAGTATTTTGACAGAATAAATAGGTAGCATTCAGTGATTTCAACCAATCAAAATTCTACATTGATAATGACCCCATCTCATACACAAATTACAGTTCCATATTTGTATCAAATGAGTCTATGGAAAAGTTCAGAAAATGATGTATAGTAGAAAGTTTAGTAAATATT... |
Task1_train_5616 | This is a variant in COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | GGTTGGCCGCTCAGCACAGTTCATCACTCTAACTGCAGAATGAAACATCTTCAAATTAGCAGGAATAACCCAAGCAAATAGTTATAGTATTTTGACAGAATAAATAGGTAGCATTCAGTGATTTCAACCAATCAAAATTCTACATTGATAATGACCCCATCTCATACACAAATTACAGTTCCATATTTGTATCAAATGAGTCTATGGAAAAGTTCAGAAAATGATGTATAGTAGAAAGTTTAGTAAATATTTTGGGGCGATGTCCATATTTTTAAATAAAAATAAATGCATAAGAAGACAGCATATTTAGGGGTATGGTA... | GGTTGGCCGCTCAGCACAGTTCATCACTCTAACTGCAGAATGAAACATCTTCAAATTAGCAGGAATAACCCAAGCAAATAGTTATAGTATTTTGACAGAATAAATAGGTAGCATTCAGTGATTTCAACCAATCAAAATTCTACATTGATAATGACCCCATCTCATACACAAATTACAGTTCCATATTTGTATCAAATGAGTCTATGGAAAAGTTCAGAAAATGATGTATAGTAGAAAGTTTAGTAAATATTTTGGGGCGATGTCCATATTTTTAAATAAAAATAAATGCATAAGAAGACAGCATATTTAGGGGTATGGTA... |
Task1_train_5617 | A genomic change on Chromosome 2 affects COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hematuria, benign familial, 2 | TGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAACATTAGCCGGGTGTGGTGGCATGTGGCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGACTCTGTCTCAAAAAAAAAAATGTTTTCCAAGAGCCACAAATGGAAAAAAATCTTATAATAATGTTAGGTGAATTAATTGAATTTTTTAAAACACAGAGAAAACAACTAGAAGGAAACTCACCAAAATGGTAATAGTGAATCTTGATTGTCAGATTTTAAAGACATTTTTGATACTTCTCAGTAAATGCCTGCACATTTCACATGTATACATTTCTT... | TGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAACATTAGCCGGGTGTGGTGGCATGTGGCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGACTCTGTCTCAAAAAAAAAAATGTTTTCCAAGAGCCACAAATGGAAAAAAATCTTATAATAATGTTAGGTGAATTAATTGAATTTTTTAAAACACAGAGAAAACAACTAGAAGGAAACTCACCAAAATGGTAATAGTGAATCTTGATTGTCAGATTTTAAAGACATTTTTGATACTTCTCAGTAAATGCCTGCACATTTCACATGTATACATTTCTT... |
Task1_train_5618 | This variant affects the gene COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Autosomal dominant Alport syndrome | TGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAACATTAGCCGGGTGTGGTGGCATGTGGCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGACTCTGTCTCAAAAAAAAAAATGTTTTCCAAGAGCCACAAATGGAAAAAAATCTTATAATAATGTTAGGTGAATTAATTGAATTTTTTAAAACACAGAGAAAACAACTAGAAGGAAACTCACCAAAATGGTAATAGTGAATCTTGATTGTCAGATTTTAAAGACATTTTTGATACTTCTCAGTAAATGCCTGCACATTTCACATGTATACATTTCTT... | TGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAACATTAGCCGGGTGTGGTGGCATGTGGCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGACTCTGTCTCAAAAAAAAAAATGTTTTCCAAGAGCCACAAATGGAAAAAAATCTTATAATAATGTTAGGTGAATTAATTGAATTTTTTAAAACACAGAGAAAACAACTAGAAGGAAACTCACCAAAATGGTAATAGTGAATCTTGATTGTCAGATTTTAAAGACATTTTTGATACTTCTCAGTAAATGCCTGCACATTTCACATGTATACATTTCTT... |
Task1_train_5619 | This sequence variant lies in COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Alport syndrome 3b, autosomal recessive | TGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAACATTAGCCGGGTGTGGTGGCATGTGGCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGACTCTGTCTCAAAAAAAAAAATGTTTTCCAAGAGCCACAAATGGAAAAAAATCTTATAATAATGTTAGGTGAATTAATTGAATTTTTTAAAACACAGAGAAAACAACTAGAAGGAAACTCACCAAAATGGTAATAGTGAATCTTGATTGTCAGATTTTAAAGACATTTTTGATACTTCTCAGTAAATGCCTGCACATTTCACATGTATACATTTCTT... | TGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAACATTAGCCGGGTGTGGTGGCATGTGGCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGACTCTGTCTCAAAAAAAAAAATGTTTTCCAAGAGCCACAAATGGAAAAAAATCTTATAATAATGTTAGGTGAATTAATTGAATTTTTTAAAACACAGAGAAAACAACTAGAAGGAAACTCACCAAAATGGTAATAGTGAATCTTGATTGTCAGATTTTAAAGACATTTTTGATACTTCTCAGTAAATGCCTGCACATTTCACATGTATACATTTCTT... |
Task1_train_5620 | This sequence variant lies in COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Autosomal dominant Alport syndrome | GTTGATGACATGGTAGTGGCTGTGCAACAGGGACTTAGAGCCTCCATAACAGAGAGTCAATATCAGTGAAGATTTGGAAGCACTATATAGTAATAACACAATTTCTATGCTGTAGGGAGAACCAGCAGTAGCCATGCCTGGAGGACCAGGAACACCAGGTTTTCCAGGAGAAAGAGGCAATTCTGGGGAACATGGAGAAATTGGACTCCCTGGACTTCCAGGTCTCCCTGGAACTCCAGGAAATGAAGGGCTTGATGGACCACGAGGTACAATAGCAAGTGTCATTACTTTTCTCCACTGTGAGCTCTGCTAAAATGCAG... | GTTGATGACATGGTAGTGGCTGTGCAACAGGGACTTAGAGCCTCCATAACAGAGAGTCAATATCAGTGAAGATTTGGAAGCACTATATAGTAATAACACAATTTCTATGCTGTAGGGAGAACCAGCAGTAGCCATGCCTGGAGGACCAGGAACACCAGGTTTTCCAGGAGAAAGAGGCAATTCTGGGGAACATGGAGAAATTGGACTCCCTGGACTTCCAGGTCTCCCTGGAACTCCAGGAAATGAAGGGCTTGATGGACCACGAGGTACAATAGCAAGTGTCATTACTTTTCTCCACTGTGAGCTCTGCTAAAATGCAG... |
Task1_train_5621 | A variant has been detected on Chromosome 2 in COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hematuria, benign familial, 2 | GTTGATGACATGGTAGTGGCTGTGCAACAGGGACTTAGAGCCTCCATAACAGAGAGTCAATATCAGTGAAGATTTGGAAGCACTATATAGTAATAACACAATTTCTATGCTGTAGGGAGAACCAGCAGTAGCCATGCCTGGAGGACCAGGAACACCAGGTTTTCCAGGAGAAAGAGGCAATTCTGGGGAACATGGAGAAATTGGACTCCCTGGACTTCCAGGTCTCCCTGGAACTCCAGGAAATGAAGGGCTTGATGGACCACGAGGTACAATAGCAAGTGTCATTACTTTTCTCCACTGTGAGCTCTGCTAAAATGCAG... | GTTGATGACATGGTAGTGGCTGTGCAACAGGGACTTAGAGCCTCCATAACAGAGAGTCAATATCAGTGAAGATTTGGAAGCACTATATAGTAATAACACAATTTCTATGCTGTAGGGAGAACCAGCAGTAGCCATGCCTGGAGGACCAGGAACACCAGGTTTTCCAGGAGAAAGAGGCAATTCTGGGGAACATGGAGAAATTGGACTCCCTGGACTTCCAGGTCTCCCTGGAACTCCAGGAAATGAAGGGCTTGATGGACCACGAGGTACAATAGCAAGTGTCATTACTTTTCTCCACTGTGAGCTCTGCTAAAATGCAG... |
Task1_train_5622 | This gene mutation involves COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Alport syndrome 3b, autosomal recessive | GTTGATGACATGGTAGTGGCTGTGCAACAGGGACTTAGAGCCTCCATAACAGAGAGTCAATATCAGTGAAGATTTGGAAGCACTATATAGTAATAACACAATTTCTATGCTGTAGGGAGAACCAGCAGTAGCCATGCCTGGAGGACCAGGAACACCAGGTTTTCCAGGAGAAAGAGGCAATTCTGGGGAACATGGAGAAATTGGACTCCCTGGACTTCCAGGTCTCCCTGGAACTCCAGGAAATGAAGGGCTTGATGGACCACGAGGTACAATAGCAAGTGTCATTACTTTTCTCCACTGTGAGCTCTGCTAAAATGCAG... | GTTGATGACATGGTAGTGGCTGTGCAACAGGGACTTAGAGCCTCCATAACAGAGAGTCAATATCAGTGAAGATTTGGAAGCACTATATAGTAATAACACAATTTCTATGCTGTAGGGAGAACCAGCAGTAGCCATGCCTGGAGGACCAGGAACACCAGGTTTTCCAGGAGAAAGAGGCAATTCTGGGGAACATGGAGAAATTGGACTCCCTGGACTTCCAGGTCTCCCTGGAACTCCAGGAAATGAAGGGCTTGATGGACCACGAGGTACAATAGCAAGTGTCATTACTTTTCTCCACTGTGAGCTCTGCTAAAATGCAG... |
Task1_train_5623 | This variant affects the gene COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Inborn genetic diseases | GTTGATGACATGGTAGTGGCTGTGCAACAGGGACTTAGAGCCTCCATAACAGAGAGTCAATATCAGTGAAGATTTGGAAGCACTATATAGTAATAACACAATTTCTATGCTGTAGGGAGAACCAGCAGTAGCCATGCCTGGAGGACCAGGAACACCAGGTTTTCCAGGAGAAAGAGGCAATTCTGGGGAACATGGAGAAATTGGACTCCCTGGACTTCCAGGTCTCCCTGGAACTCCAGGAAATGAAGGGCTTGATGGACCACGAGGTACAATAGCAAGTGTCATTACTTTTCTCCACTGTGAGCTCTGCTAAAATGCAG... | GTTGATGACATGGTAGTGGCTGTGCAACAGGGACTTAGAGCCTCCATAACAGAGAGTCAATATCAGTGAAGATTTGGAAGCACTATATAGTAATAACACAATTTCTATGCTGTAGGGAGAACCAGCAGTAGCCATGCCTGGAGGACCAGGAACACCAGGTTTTCCAGGAGAAAGAGGCAATTCTGGGGAACATGGAGAAATTGGACTCCCTGGACTTCCAGGTCTCCCTGGAACTCCAGGAAATGAAGGGCTTGATGGACCACGAGGTACAATAGCAAGTGTCATTACTTTTCTCCACTGTGAGCTCTGCTAAAATGCAG... |
Task1_train_5624 | Here is a variant affecting COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not specified | GTTGATGACATGGTAGTGGCTGTGCAACAGGGACTTAGAGCCTCCATAACAGAGAGTCAATATCAGTGAAGATTTGGAAGCACTATATAGTAATAACACAATTTCTATGCTGTAGGGAGAACCAGCAGTAGCCATGCCTGGAGGACCAGGAACACCAGGTTTTCCAGGAGAAAGAGGCAATTCTGGGGAACATGGAGAAATTGGACTCCCTGGACTTCCAGGTCTCCCTGGAACTCCAGGAAATGAAGGGCTTGATGGACCACGAGGTACAATAGCAAGTGTCATTACTTTTCTCCACTGTGAGCTCTGCTAAAATGCAG... | GTTGATGACATGGTAGTGGCTGTGCAACAGGGACTTAGAGCCTCCATAACAGAGAGTCAATATCAGTGAAGATTTGGAAGCACTATATAGTAATAACACAATTTCTATGCTGTAGGGAGAACCAGCAGTAGCCATGCCTGGAGGACCAGGAACACCAGGTTTTCCAGGAGAAAGAGGCAATTCTGGGGAACATGGAGAAATTGGACTCCCTGGACTTCCAGGTCTCCCTGGAACTCCAGGAAATGAAGGGCTTGATGGACCACGAGGTACAATAGCAAGTGTCATTACTTTTCTCCACTGTGAGCTCTGCTAAAATGCAG... |
Task1_train_5625 | Here is a variant affecting COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Autosomal dominant Alport syndrome | ATGCTGTAGGGAGAACCAGCAGTAGCCATGCCTGGAGGACCAGGAACACCAGGTTTTCCAGGAGAAAGAGGCAATTCTGGGGAACATGGAGAAATTGGACTCCCTGGACTTCCAGGTCTCCCTGGAACTCCAGGAAATGAAGGGCTTGATGGACCACGAGGTACAATAGCAAGTGTCATTACTTTTCTCCACTGTGAGCTCTGCTAAAATGCAGCAAACTGAATGTGAAGGTGTTCTAGGCATGAAGAATTCTCCCATCCAATGTTCCTGCCCTACCTTTCTTCCTTCTTTCCTTCTTCCTTCCTTCTTTTTTAATGAGT... | ATGCTGTAGGGAGAACCAGCAGTAGCCATGCCTGGAGGACCAGGAACACCAGGTTTTCCAGGAGAAAGAGGCAATTCTGGGGAACATGGAGAAATTGGACTCCCTGGACTTCCAGGTCTCCCTGGAACTCCAGGAAATGAAGGGCTTGATGGACCACGAGGTACAATAGCAAGTGTCATTACTTTTCTCCACTGTGAGCTCTGCTAAAATGCAGCAAACTGAATGTGAAGGTGTTCTAGGCATGAAGAATTCTCCCATCCAATGTTCCTGCCCTACCTTTCTTCCTTCTTTCCTTCTTCCTTCCTTCTTTTTTAATGAGT... |
Task1_train_5626 | An alteration has been detected in MFF-DT, COL4A3 (MFF divergent transcript| collagen type IV alpha 3 chain) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | GAGCCGAAATCGCCCCACTGCAATCCAGCCTAGAAGACAGAGGGAGATTCCATCTTAAAAATATATATATATATATATATATATATTTCTGAAGTTAGTAGGGGAAAGCATTTGTGGGTTAATTAATTCATTCATTTATTCGTACACAGGCAGAAGAGGTAAAACGGGGCCAAAGGGAGACCCAGGAATTCCAGGCTTGGATAGATCAGGATTTCCTGGAGAAACTGGATCACCAGGAATTCCAGGTCATCAAGGTGAAATGGGACCACTGGGTCAAAGAGGATATCCAGGAAATCCGGGAATTTTAGGGCCACCAGGTA... | GAGCCGAAATCGCCCCACTGCAATCCAGCCTAGAAGACAGAGGGAGATTCCATCTTAAAAATATATATATATATATATATATATATTTCTGAAGTTAGTAGGGGAAAGCATTTGTGGGTTAATTAATTCATTCATTTATTCGTACACAGGCAGAAGAGGTAAAACGGGGCCAAAGGGAGACCCAGGAATTCCAGGCTTGGATAGATCAGGATTTCCTGGAGAAACTGGATCACCAGGAATTCCAGGTCATCAAGGTGAAATGGGACCACTGGGTCAAAGAGGATATCCAGGAAATCCGGGAATTTTAGGGCCACCAGGTA... |
Task1_train_5627 | A variant on Chromosome 2 in gene COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Autosomal dominant Alport syndrome | CCCATACAATCAGATAGGACAGTGGGTTTTTTCTTGTGATACAAAGTGGCCCATTTCTGCTGTACTCATCTCAGACTTATAAAAATAAATTTCCAAACCTTCTAATAAAAAACACTTGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATCTTGGCTAACATGGTGAAACCCCGTTTCTACTAAAAATACAAAAAATTAGCCGGGCGTTTTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCAT... | CCCATACAATCAGATAGGACAGTGGGTTTTTTCTTGTGATACAAAGTGGCCCATTTCTGCTGTACTCATCTCAGACTTATAAAAATAAATTTCCAAACCTTCTAATAAAAAACACTTGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATCTTGGCTAACATGGTGAAACCCCGTTTCTACTAAAAATACAAAAAATTAGCCGGGCGTTTTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCAT... |
Task1_train_5628 | Consider a variant on Chromosome 2 in gene COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript). Determine its clinical classification and disease relevance. | Pathogenic; not provided | ATCAGATAGGACAGTGGGTTTTTTCTTGTGATACAAAGTGGCCCATTTCTGCTGTACTCATCTCAGACTTATAAAAATAAATTTCCAAACCTTCTAATAAAAAACACTTGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATCTTGGCTAACATGGTGAAACCCCGTTTCTACTAAAAATACAAAAAATTAGCCGGGCGTTTTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGG... | ATCAGATAGGACAGTGGGTTTTTTCTTGTGATACAAAGTGGCCCATTTCTGCTGTACTCATCTCAGACTTATAAAAATAAATTTCCAAACCTTCTAATAAAAAACACTTGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATCTTGGCTAACATGGTGAAACCCCGTTTCTACTAAAAATACAAAAAATTAGCCGGGCGTTTTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGG... |
Task1_train_5629 | Gene COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Autosomal dominant Alport syndrome | TGATACAAAGTGGCCCATTTCTGCTGTACTCATCTCAGACTTATAAAAATAAATTTCCAAACCTTCTAATAAAAAACACTTGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATCTTGGCTAACATGGTGAAACCCCGTTTCTACTAAAAATACAAAAAATTAGCCGGGCGTTTTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATC... | TGATACAAAGTGGCCCATTTCTGCTGTACTCATCTCAGACTTATAAAAATAAATTTCCAAACCTTCTAATAAAAAACACTTGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATCTTGGCTAACATGGTGAAACCCCGTTTCTACTAAAAATACAAAAAATTAGCCGGGCGTTTTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATC... |
Task1_train_5630 | The gene COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Benign familial hematuria | AGCAAAATGAGAGTAACAGAGTAGTATATTTTAATTGGCTACCATAGAAATTTTGTAAATCTTTATCAAACCTATATGTTCGGGTTTGTCGTAAAACTGAAGTGAAGATTTAATGAACACTAAATCATTGGAAGGTTTTTAAAACATGTGATTGACATATGTGCATGCATAGCATTTGTAGGATACATCTTTATTTAGTCTATTTCTTTCTTACTCCCAGCTACTCATCACAATTTGTAACTATATATTTGTGTGATTATTTAATATCTATCTCCTTACTGGTCTCTGAAGCTCCATGAAGGCAGGGACTGTGTATGTCA... | AGCAAAATGAGAGTAACAGAGTAGTATATTTTAATTGGCTACCATAGAAATTTTGTAAATCTTTATCAAACCTATATGTTCGGGTTTGTCGTAAAACTGAAGTGAAGATTTAATGAACACTAAATCATTGGAAGGTTTTTAAAACATGTGATTGACATATGTGCATGCATAGCATTTGTAGGATACATCTTTATTTAGTCTATTTCTTTCTTACTCCCAGCTACTCATCACAATTTGTAACTATATATTTGTGTGATTATTTAATATCTATCTCCTTACTGGTCTCTGAAGCTCCATGAAGGCAGGGACTGTGTATGTCA... |
Task1_train_5631 | This sequence variant lies in COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Autosomal dominant Alport syndrome | CTTGAAATTCACTTTAAAAAGTTTTAAGGGAAACTGCATTTTCATTTTGCACTGGGCCCCATAAACCATGTGGCCGTCTTATTCCCAGCACCTATCACAGTGCTGGCAGATAGCAGATACTAATATGAATTGATGAATGAATGAAAAAATTAGTGAATAAAGTTTATGCTGAATTCTTACCACATATCCTGCTTATATGAGAATTTTAAAGGTATTTGACTACATTTAAGGGGGATCCAGGACTGCCGGGTGATATGGGAAAGAAAGGAGAAATGGGGCAACCTGGCCCACCTGGACATTTGGGGCCTGCTGGACCTGAG... | CTTGAAATTCACTTTAAAAAGTTTTAAGGGAAACTGCATTTTCATTTTGCACTGGGCCCCATAAACCATGTGGCCGTCTTATTCCCAGCACCTATCACAGTGCTGGCAGATAGCAGATACTAATATGAATTGATGAATGAATGAAAAAATTAGTGAATAAAGTTTATGCTGAATTCTTACCACATATCCTGCTTATATGAGAATTTTAAAGGTATTTGACTACATTTAAGGGGGATCCAGGACTGCCGGGTGATATGGGAAAGAAAGGAGAAATGGGGCAACCTGGCCCACCTGGACATTTGGGGCCTGCTGGACCTGAG... |
Task1_train_5632 | This sequence change occurs on Chromosome 2, altering COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Autosomal recessive Alport syndrome | CTTGAAATTCACTTTAAAAAGTTTTAAGGGAAACTGCATTTTCATTTTGCACTGGGCCCCATAAACCATGTGGCCGTCTTATTCCCAGCACCTATCACAGTGCTGGCAGATAGCAGATACTAATATGAATTGATGAATGAATGAAAAAATTAGTGAATAAAGTTTATGCTGAATTCTTACCACATATCCTGCTTATATGAGAATTTTAAAGGTATTTGACTACATTTAAGGGGGATCCAGGACTGCCGGGTGATATGGGAAAGAAAGGAGAAATGGGGCAACCTGGCCCACCTGGACATTTGGGGCCTGCTGGACCTGAG... | CTTGAAATTCACTTTAAAAAGTTTTAAGGGAAACTGCATTTTCATTTTGCACTGGGCCCCATAAACCATGTGGCCGTCTTATTCCCAGCACCTATCACAGTGCTGGCAGATAGCAGATACTAATATGAATTGATGAATGAATGAAAAAATTAGTGAATAAAGTTTATGCTGAATTCTTACCACATATCCTGCTTATATGAGAATTTTAAAGGTATTTGACTACATTTAAGGGGGATCCAGGACTGCCGGGTGATATGGGAAAGAAAGGAGAAATGGGGCAACCTGGCCCACCTGGACATTTGGGGCCTGCTGGACCTGAG... |
Task1_train_5633 | This variant affects gene COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Benign familial hematuria | CTTGAAATTCACTTTAAAAAGTTTTAAGGGAAACTGCATTTTCATTTTGCACTGGGCCCCATAAACCATGTGGCCGTCTTATTCCCAGCACCTATCACAGTGCTGGCAGATAGCAGATACTAATATGAATTGATGAATGAATGAAAAAATTAGTGAATAAAGTTTATGCTGAATTCTTACCACATATCCTGCTTATATGAGAATTTTAAAGGTATTTGACTACATTTAAGGGGGATCCAGGACTGCCGGGTGATATGGGAAAGAAAGGAGAAATGGGGCAACCTGGCCCACCTGGACATTTGGGGCCTGCTGGACCTGAG... | CTTGAAATTCACTTTAAAAAGTTTTAAGGGAAACTGCATTTTCATTTTGCACTGGGCCCCATAAACCATGTGGCCGTCTTATTCCCAGCACCTATCACAGTGCTGGCAGATAGCAGATACTAATATGAATTGATGAATGAATGAAAAAATTAGTGAATAAAGTTTATGCTGAATTCTTACCACATATCCTGCTTATATGAGAATTTTAAAGGTATTTGACTACATTTAAGGGGGATCCAGGACTGCCGGGTGATATGGGAAAGAAAGGAGAAATGGGGCAACCTGGCCCACCTGGACATTTGGGGCCTGCTGGACCTGAG... |
Task1_train_5634 | A variant has been detected on Chromosome 2 in COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Autosomal recessive Alport syndrome | GCATTTTCATTTTGCACTGGGCCCCATAAACCATGTGGCCGTCTTATTCCCAGCACCTATCACAGTGCTGGCAGATAGCAGATACTAATATGAATTGATGAATGAATGAAAAAATTAGTGAATAAAGTTTATGCTGAATTCTTACCACATATCCTGCTTATATGAGAATTTTAAAGGTATTTGACTACATTTAAGGGGGATCCAGGACTGCCGGGTGATATGGGAAAGAAAGGAGAAATGGGGCAACCTGGCCCACCTGGACATTTGGGGCCTGCTGGACCTGAGGGAGCCCCTGGAAGTCCTGGAAGTCCTGGCCTCCC... | GCATTTTCATTTTGCACTGGGCCCCATAAACCATGTGGCCGTCTTATTCCCAGCACCTATCACAGTGCTGGCAGATAGCAGATACTAATATGAATTGATGAATGAATGAAAAAATTAGTGAATAAAGTTTATGCTGAATTCTTACCACATATCCTGCTTATATGAGAATTTTAAAGGTATTTGACTACATTTAAGGGGGATCCAGGACTGCCGGGTGATATGGGAAAGAAAGGAGAAATGGGGCAACCTGGCCCACCTGGACATTTGGGGCCTGCTGGACCTGAGGGAGCCCCTGGAAGTCCTGGAAGTCCTGGCCTCCC... |
Task1_train_5635 | This variant lies on Chromosome 2 and affects the gene COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hematuria, benign familial, 2 | GCATTTTCATTTTGCACTGGGCCCCATAAACCATGTGGCCGTCTTATTCCCAGCACCTATCACAGTGCTGGCAGATAGCAGATACTAATATGAATTGATGAATGAATGAAAAAATTAGTGAATAAAGTTTATGCTGAATTCTTACCACATATCCTGCTTATATGAGAATTTTAAAGGTATTTGACTACATTTAAGGGGGATCCAGGACTGCCGGGTGATATGGGAAAGAAAGGAGAAATGGGGCAACCTGGCCCACCTGGACATTTGGGGCCTGCTGGACCTGAGGGAGCCCCTGGAAGTCCTGGAAGTCCTGGCCTCCC... | GCATTTTCATTTTGCACTGGGCCCCATAAACCATGTGGCCGTCTTATTCCCAGCACCTATCACAGTGCTGGCAGATAGCAGATACTAATATGAATTGATGAATGAATGAAAAAATTAGTGAATAAAGTTTATGCTGAATTCTTACCACATATCCTGCTTATATGAGAATTTTAAAGGTATTTGACTACATTTAAGGGGGATCCAGGACTGCCGGGTGATATGGGAAAGAAAGGAGAAATGGGGCAACCTGGCCCACCTGGACATTTGGGGCCTGCTGGACCTGAGGGAGCCCCTGGAAGTCCTGGAAGTCCTGGCCTCCC... |
Task1_train_5636 | A variant on Chromosome 2 in gene COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Alport syndrome 3b, autosomal recessive | GCATTTTCATTTTGCACTGGGCCCCATAAACCATGTGGCCGTCTTATTCCCAGCACCTATCACAGTGCTGGCAGATAGCAGATACTAATATGAATTGATGAATGAATGAAAAAATTAGTGAATAAAGTTTATGCTGAATTCTTACCACATATCCTGCTTATATGAGAATTTTAAAGGTATTTGACTACATTTAAGGGGGATCCAGGACTGCCGGGTGATATGGGAAAGAAAGGAGAAATGGGGCAACCTGGCCCACCTGGACATTTGGGGCCTGCTGGACCTGAGGGAGCCCCTGGAAGTCCTGGAAGTCCTGGCCTCCC... | GCATTTTCATTTTGCACTGGGCCCCATAAACCATGTGGCCGTCTTATTCCCAGCACCTATCACAGTGCTGGCAGATAGCAGATACTAATATGAATTGATGAATGAATGAAAAAATTAGTGAATAAAGTTTATGCTGAATTCTTACCACATATCCTGCTTATATGAGAATTTTAAAGGTATTTGACTACATTTAAGGGGGATCCAGGACTGCCGGGTGATATGGGAAAGAAAGGAGAAATGGGGCAACCTGGCCCACCTGGACATTTGGGGCCTGCTGGACCTGAGGGAGCCCCTGGAAGTCCTGGAAGTCCTGGCCTCCC... |
Task1_train_5637 | A variant on Chromosome 2 in gene COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Autosomal dominant Alport syndrome | GCATTTTCATTTTGCACTGGGCCCCATAAACCATGTGGCCGTCTTATTCCCAGCACCTATCACAGTGCTGGCAGATAGCAGATACTAATATGAATTGATGAATGAATGAAAAAATTAGTGAATAAAGTTTATGCTGAATTCTTACCACATATCCTGCTTATATGAGAATTTTAAAGGTATTTGACTACATTTAAGGGGGATCCAGGACTGCCGGGTGATATGGGAAAGAAAGGAGAAATGGGGCAACCTGGCCCACCTGGACATTTGGGGCCTGCTGGACCTGAGGGAGCCCCTGGAAGTCCTGGAAGTCCTGGCCTCCC... | GCATTTTCATTTTGCACTGGGCCCCATAAACCATGTGGCCGTCTTATTCCCAGCACCTATCACAGTGCTGGCAGATAGCAGATACTAATATGAATTGATGAATGAATGAAAAAATTAGTGAATAAAGTTTATGCTGAATTCTTACCACATATCCTGCTTATATGAGAATTTTAAAGGTATTTGACTACATTTAAGGGGGATCCAGGACTGCCGGGTGATATGGGAAAGAAAGGAGAAATGGGGCAACCTGGCCCACCTGGACATTTGGGGCCTGCTGGACCTGAGGGAGCCCCTGGAAGTCCTGGAAGTCCTGGCCTCCC... |
Task1_train_5638 | Gene COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Alport syndrome | GCATTTTCATTTTGCACTGGGCCCCATAAACCATGTGGCCGTCTTATTCCCAGCACCTATCACAGTGCTGGCAGATAGCAGATACTAATATGAATTGATGAATGAATGAAAAAATTAGTGAATAAAGTTTATGCTGAATTCTTACCACATATCCTGCTTATATGAGAATTTTAAAGGTATTTGACTACATTTAAGGGGGATCCAGGACTGCCGGGTGATATGGGAAAGAAAGGAGAAATGGGGCAACCTGGCCCACCTGGACATTTGGGGCCTGCTGGACCTGAGGGAGCCCCTGGAAGTCCTGGAAGTCCTGGCCTCCC... | GCATTTTCATTTTGCACTGGGCCCCATAAACCATGTGGCCGTCTTATTCCCAGCACCTATCACAGTGCTGGCAGATAGCAGATACTAATATGAATTGATGAATGAATGAAAAAATTAGTGAATAAAGTTTATGCTGAATTCTTACCACATATCCTGCTTATATGAGAATTTTAAAGGTATTTGACTACATTTAAGGGGGATCCAGGACTGCCGGGTGATATGGGAAAGAAAGGAGAAATGGGGCAACCTGGCCCACCTGGACATTTGGGGCCTGCTGGACCTGAGGGAGCCCCTGGAAGTCCTGGAAGTCCTGGCCTCCC... |
Task1_train_5639 | This mutation is located in gene COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Autosomal dominant Alport syndrome | CATTTTCATTTTGCACTGGGCCCCATAAACCATGTGGCCGTCTTATTCCCAGCACCTATCACAGTGCTGGCAGATAGCAGATACTAATATGAATTGATGAATGAATGAAAAAATTAGTGAATAAAGTTTATGCTGAATTCTTACCACATATCCTGCTTATATGAGAATTTTAAAGGTATTTGACTACATTTAAGGGGGATCCAGGACTGCCGGGTGATATGGGAAAGAAAGGAGAAATGGGGCAACCTGGCCCACCTGGACATTTGGGGCCTGCTGGACCTGAGGGAGCCCCTGGAAGTCCTGGAAGTCCTGGCCTCCCA... | CATTTTCATTTTGCACTGGGCCCCATAAACCATGTGGCCGTCTTATTCCCAGCACCTATCACAGTGCTGGCAGATAGCAGATACTAATATGAATTGATGAATGAATGAAAAAATTAGTGAATAAAGTTTATGCTGAATTCTTACCACATATCCTGCTTATATGAGAATTTTAAAGGTATTTGACTACATTTAAGGGGGATCCAGGACTGCCGGGTGATATGGGAAAGAAAGGAGAAATGGGGCAACCTGGCCCACCTGGACATTTGGGGCCTGCTGGACCTGAGGGAGCCCCTGGAAGTCCTGGAAGTCCTGGCCTCCCA... |
Task1_train_5640 | Here is a genetic alteration in MFF-DT, COL4A3 (MFF divergent transcript| collagen type IV alpha 3 chain) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Autosomal dominant Alport syndrome | ACAGGAGTAATCCGAATCCTTTCCCACCTGTATCTTCATAGGTCTGACTCCAACCCCCAGATCCAGCTTGCGGTCCATGCTATTGTTTATTAAAGGCGACCCAGAGAGTCTCTCAACATCTCAGACATGGCAGTTTACTGAACATGTCATTCAGAGTATTTACAAGTTTTTTGTTTGGCAGGCCACAGATCTGGATTTCTCATGTCAGTGCTTTACAAGATAAACAGCTTCTTTTAACTCTTTTCCATTTTCTAGTCAAACCTTCCAGGAGAAACATCAGATTGTTTGCACATTTCATTGACCCGTCTCAGCCACGCGTC... | ACAGGAGTAATCCGAATCCTTTCCCACCTGTATCTTCATAGGTCTGACTCCAACCCCCAGATCCAGCTTGCGGTCCATGCTATTGTTTATTAAAGGCGACCCAGAGAGTCTCTCAACATCTCAGACATGGCAGTTTACTGAACATGTCATTCAGAGTATTTACAAGTTTTTTGTTTGGCAGGCCACAGATCTGGATTTCTCATGTCAGTGCTTTACAAGATAAACAGCTTCTTTTAACTCTTTTCCATTTTCTAGTCAAACCTTCCAGGAGAAACATCAGATTGTTTGCACATTTCATTGACCCGTCTCAGCCACGCGTC... |
Task1_train_5641 | Consider this mutation in MFF-DT, COL4A3 (MFF divergent transcript| collagen type IV alpha 3 chain) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Hematuria, benign familial, 2 | ACAGGAGTAATCCGAATCCTTTCCCACCTGTATCTTCATAGGTCTGACTCCAACCCCCAGATCCAGCTTGCGGTCCATGCTATTGTTTATTAAAGGCGACCCAGAGAGTCTCTCAACATCTCAGACATGGCAGTTTACTGAACATGTCATTCAGAGTATTTACAAGTTTTTTGTTTGGCAGGCCACAGATCTGGATTTCTCATGTCAGTGCTTTACAAGATAAACAGCTTCTTTTAACTCTTTTCCATTTTCTAGTCAAACCTTCCAGGAGAAACATCAGATTGTTTGCACATTTCATTGACCCGTCTCAGCCACGCGTC... | ACAGGAGTAATCCGAATCCTTTCCCACCTGTATCTTCATAGGTCTGACTCCAACCCCCAGATCCAGCTTGCGGTCCATGCTATTGTTTATTAAAGGCGACCCAGAGAGTCTCTCAACATCTCAGACATGGCAGTTTACTGAACATGTCATTCAGAGTATTTACAAGTTTTTTGTTTGGCAGGCCACAGATCTGGATTTCTCATGTCAGTGCTTTACAAGATAAACAGCTTCTTTTAACTCTTTTCCATTTTCTAGTCAAACCTTCCAGGAGAAACATCAGATTGTTTGCACATTTCATTGACCCGTCTCAGCCACGCGTC... |
Task1_train_5642 | The gene MFF-DT, COL4A3 (MFF divergent transcript| collagen type IV alpha 3 chain) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Alport syndrome 3b, autosomal recessive | ACAGGAGTAATCCGAATCCTTTCCCACCTGTATCTTCATAGGTCTGACTCCAACCCCCAGATCCAGCTTGCGGTCCATGCTATTGTTTATTAAAGGCGACCCAGAGAGTCTCTCAACATCTCAGACATGGCAGTTTACTGAACATGTCATTCAGAGTATTTACAAGTTTTTTGTTTGGCAGGCCACAGATCTGGATTTCTCATGTCAGTGCTTTACAAGATAAACAGCTTCTTTTAACTCTTTTCCATTTTCTAGTCAAACCTTCCAGGAGAAACATCAGATTGTTTGCACATTTCATTGACCCGTCTCAGCCACGCGTC... | ACAGGAGTAATCCGAATCCTTTCCCACCTGTATCTTCATAGGTCTGACTCCAACCCCCAGATCCAGCTTGCGGTCCATGCTATTGTTTATTAAAGGCGACCCAGAGAGTCTCTCAACATCTCAGACATGGCAGTTTACTGAACATGTCATTCAGAGTATTTACAAGTTTTTTGTTTGGCAGGCCACAGATCTGGATTTCTCATGTCAGTGCTTTACAAGATAAACAGCTTCTTTTAACTCTTTTCCATTTTCTAGTCAAACCTTCCAGGAGAAACATCAGATTGTTTGCACATTTCATTGACCCGTCTCAGCCACGCGTC... |
Task1_train_5643 | Mutation context: Chromosome 2, Gene MFF-DT, COL4A3 (MFF divergent transcript| collagen type IV alpha 3 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | ACAGGAGTAATCCGAATCCTTTCCCACCTGTATCTTCATAGGTCTGACTCCAACCCCCAGATCCAGCTTGCGGTCCATGCTATTGTTTATTAAAGGCGACCCAGAGAGTCTCTCAACATCTCAGACATGGCAGTTTACTGAACATGTCATTCAGAGTATTTACAAGTTTTTTGTTTGGCAGGCCACAGATCTGGATTTCTCATGTCAGTGCTTTACAAGATAAACAGCTTCTTTTAACTCTTTTCCATTTTCTAGTCAAACCTTCCAGGAGAAACATCAGATTGTTTGCACATTTCATTGACCCGTCTCAGCCACGCGTC... | ACAGGAGTAATCCGAATCCTTTCCCACCTGTATCTTCATAGGTCTGACTCCAACCCCCAGATCCAGCTTGCGGTCCATGCTATTGTTTATTAAAGGCGACCCAGAGAGTCTCTCAACATCTCAGACATGGCAGTTTACTGAACATGTCATTCAGAGTATTTACAAGTTTTTTGTTTGGCAGGCCACAGATCTGGATTTCTCATGTCAGTGCTTTACAAGATAAACAGCTTCTTTTAACTCTTTTCCATTTTCTAGTCAAACCTTCCAGGAGAAACATCAGATTGTTTGCACATTTCATTGACCCGTCTCAGCCACGCGTC... |
Task1_train_5644 | Given this context: Chromosome 2, gene COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Autosomal dominant Alport syndrome | CAGGAGTAATCCGAATCCTTTCCCACCTGTATCTTCATAGGTCTGACTCCAACCCCCAGATCCAGCTTGCGGTCCATGCTATTGTTTATTAAAGGCGACCCAGAGAGTCTCTCAACATCTCAGACATGGCAGTTTACTGAACATGTCATTCAGAGTATTTACAAGTTTTTTGTTTGGCAGGCCACAGATCTGGATTTCTCATGTCAGTGCTTTACAAGATAAACAGCTTCTTTTAACTCTTTTCCATTTTCTAGTCAAACCTTCCAGGAGAAACATCAGATTGTTTGCACATTTCATTGACCCGTCTCAGCCACGCGTCC... | CAGGAGTAATCCGAATCCTTTCCCACCTGTATCTTCATAGGTCTGACTCCAACCCCCAGATCCAGCTTGCGGTCCATGCTATTGTTTATTAAAGGCGACCCAGAGAGTCTCTCAACATCTCAGACATGGCAGTTTACTGAACATGTCATTCAGAGTATTTACAAGTTTTTTGTTTGGCAGGCCACAGATCTGGATTTCTCATGTCAGTGCTTTACAAGATAAACAGCTTCTTTTAACTCTTTTCCATTTTCTAGTCAAACCTTCCAGGAGAAACATCAGATTGTTTGCACATTTCATTGACCCGTCTCAGCCACGCGTCC... |
Task1_train_5645 | Assess the clinical impact of this variant on gene COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Autosomal recessive Alport syndrome | CAGGAGTAATCCGAATCCTTTCCCACCTGTATCTTCATAGGTCTGACTCCAACCCCCAGATCCAGCTTGCGGTCCATGCTATTGTTTATTAAAGGCGACCCAGAGAGTCTCTCAACATCTCAGACATGGCAGTTTACTGAACATGTCATTCAGAGTATTTACAAGTTTTTTGTTTGGCAGGCCACAGATCTGGATTTCTCATGTCAGTGCTTTACAAGATAAACAGCTTCTTTTAACTCTTTTCCATTTTCTAGTCAAACCTTCCAGGAGAAACATCAGATTGTTTGCACATTTCATTGACCCGTCTCAGCCACGCGTCC... | CAGGAGTAATCCGAATCCTTTCCCACCTGTATCTTCATAGGTCTGACTCCAACCCCCAGATCCAGCTTGCGGTCCATGCTATTGTTTATTAAAGGCGACCCAGAGAGTCTCTCAACATCTCAGACATGGCAGTTTACTGAACATGTCATTCAGAGTATTTACAAGTTTTTTGTTTGGCAGGCCACAGATCTGGATTTCTCATGTCAGTGCTTTACAAGATAAACAGCTTCTTTTAACTCTTTTCCATTTTCTAGTCAAACCTTCCAGGAGAAACATCAGATTGTTTGCACATTTCATTGACCCGTCTCAGCCACGCGTCC... |
Task1_train_5646 | A mutation on Chromosome 2 affecting COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Benign familial hematuria | CAGGAGTAATCCGAATCCTTTCCCACCTGTATCTTCATAGGTCTGACTCCAACCCCCAGATCCAGCTTGCGGTCCATGCTATTGTTTATTAAAGGCGACCCAGAGAGTCTCTCAACATCTCAGACATGGCAGTTTACTGAACATGTCATTCAGAGTATTTACAAGTTTTTTGTTTGGCAGGCCACAGATCTGGATTTCTCATGTCAGTGCTTTACAAGATAAACAGCTTCTTTTAACTCTTTTCCATTTTCTAGTCAAACCTTCCAGGAGAAACATCAGATTGTTTGCACATTTCATTGACCCGTCTCAGCCACGCGTCC... | CAGGAGTAATCCGAATCCTTTCCCACCTGTATCTTCATAGGTCTGACTCCAACCCCCAGATCCAGCTTGCGGTCCATGCTATTGTTTATTAAAGGCGACCCAGAGAGTCTCTCAACATCTCAGACATGGCAGTTTACTGAACATGTCATTCAGAGTATTTACAAGTTTTTTGTTTGGCAGGCCACAGATCTGGATTTCTCATGTCAGTGCTTTACAAGATAAACAGCTTCTTTTAACTCTTTTCCATTTTCTAGTCAAACCTTCCAGGAGAAACATCAGATTGTTTGCACATTTCATTGACCCGTCTCAGCCACGCGTCC... |
Task1_train_5647 | This variant lies on Chromosome 2 and affects the gene COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | GTTTACTGAACATGTCATTCAGAGTATTTACAAGTTTTTTGTTTGGCAGGCCACAGATCTGGATTTCTCATGTCAGTGCTTTACAAGATAAACAGCTTCTTTTAACTCTTTTCCATTTTCTAGTCAAACCTTCCAGGAGAAACATCAGATTGTTTGCACATTTCATTGACCCGTCTCAGCCACGCGTCCTATGAATGGGAGCATTTCATTAGCAAAGAGGCCTAACACACTGAAGGGCTCTAGTTATTGATGTTCACGCAAACCAGCAAAGAGCAGCTGGATGCCAATGAGAAACTCAGTTGGGCAGGAACCACCTCTTG... | GTTTACTGAACATGTCATTCAGAGTATTTACAAGTTTTTTGTTTGGCAGGCCACAGATCTGGATTTCTCATGTCAGTGCTTTACAAGATAAACAGCTTCTTTTAACTCTTTTCCATTTTCTAGTCAAACCTTCCAGGAGAAACATCAGATTGTTTGCACATTTCATTGACCCGTCTCAGCCACGCGTCCTATGAATGGGAGCATTTCATTAGCAAAGAGGCCTAACACACTGAAGGGCTCTAGTTATTGATGTTCACGCAAACCAGCAAAGAGCAGCTGGATGCCAATGAGAAACTCAGTTGGGCAGGAACCACCTCTTG... |
Task1_train_5648 | This sequence change occurs on Chromosome 2, altering COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Alport syndrome 3b, autosomal recessive | TTGTCTCTCTCCTTTTTTAACAACACTTTATCCAAGCAATCAGATGGTTCCTTCTTTGGTCTTCTTGCTCCAAAGATAGCTGGTTCAAGGCCAGTTTTATCCTTGGCACTTTTCATGACCTTCAAAGCACATTATTCTCAGGTAATAGCATTATCTCAATTCACATGGACAGTATGAAAGTAGATTTAGCATACATTTTGACAAATAGCTCTTTCCAGAAGCCCTGCTCCCTCCTCCCTCCTTCTATGGCTTTGCTTGAGCATCTCCTGGCTATAAGACCAGTTCATGTGAGCCTCACAAGAAGAGAGCACCTCGTTCCT... | TTGTCTCTCTCCTTTTTTAACAACACTTTATCCAAGCAATCAGATGGTTCCTTCTTTGGTCTTCTTGCTCCAAAGATAGCTGGTTCAAGGCCAGTTTTATCCTTGGCACTTTTCATGACCTTCAAAGCACATTATTCTCAGGTAATAGCATTATCTCAATTCACATGGACAGTATGAAAGTAGATTTAGCATACATTTTGACAAATAGCTCTTTCCAGAAGCCCTGCTCCCTCCTCCCTCCTTCTATGGCTTTGCTTGAGCATCTCCTGGCTATAAGACCAGTTCATGTGAGCCTCACAAGAAGAGAGCACCTCGTTCCT... |
Task1_train_5649 | An alteration has been detected in COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Autosomal dominant Alport syndrome | TTGTCTCTCTCCTTTTTTAACAACACTTTATCCAAGCAATCAGATGGTTCCTTCTTTGGTCTTCTTGCTCCAAAGATAGCTGGTTCAAGGCCAGTTTTATCCTTGGCACTTTTCATGACCTTCAAAGCACATTATTCTCAGGTAATAGCATTATCTCAATTCACATGGACAGTATGAAAGTAGATTTAGCATACATTTTGACAAATAGCTCTTTCCAGAAGCCCTGCTCCCTCCTCCCTCCTTCTATGGCTTTGCTTGAGCATCTCCTGGCTATAAGACCAGTTCATGTGAGCCTCACAAGAAGAGAGCACCTCGTTCCT... | TTGTCTCTCTCCTTTTTTAACAACACTTTATCCAAGCAATCAGATGGTTCCTTCTTTGGTCTTCTTGCTCCAAAGATAGCTGGTTCAAGGCCAGTTTTATCCTTGGCACTTTTCATGACCTTCAAAGCACATTATTCTCAGGTAATAGCATTATCTCAATTCACATGGACAGTATGAAAGTAGATTTAGCATACATTTTGACAAATAGCTCTTTCCAGAAGCCCTGCTCCCTCCTCCCTCCTTCTATGGCTTTGCTTGAGCATCTCCTGGCTATAAGACCAGTTCATGTGAGCCTCACAAGAAGAGAGCACCTCGTTCCT... |
Task1_train_5650 | A change on Chromosome 2 affects gene COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Hematuria, benign familial, 2 | TTGTCTCTCTCCTTTTTTAACAACACTTTATCCAAGCAATCAGATGGTTCCTTCTTTGGTCTTCTTGCTCCAAAGATAGCTGGTTCAAGGCCAGTTTTATCCTTGGCACTTTTCATGACCTTCAAAGCACATTATTCTCAGGTAATAGCATTATCTCAATTCACATGGACAGTATGAAAGTAGATTTAGCATACATTTTGACAAATAGCTCTTTCCAGAAGCCCTGCTCCCTCCTCCCTCCTTCTATGGCTTTGCTTGAGCATCTCCTGGCTATAAGACCAGTTCATGTGAGCCTCACAAGAAGAGAGCACCTCGTTCCT... | TTGTCTCTCTCCTTTTTTAACAACACTTTATCCAAGCAATCAGATGGTTCCTTCTTTGGTCTTCTTGCTCCAAAGATAGCTGGTTCAAGGCCAGTTTTATCCTTGGCACTTTTCATGACCTTCAAAGCACATTATTCTCAGGTAATAGCATTATCTCAATTCACATGGACAGTATGAAAGTAGATTTAGCATACATTTTGACAAATAGCTCTTTCCAGAAGCCCTGCTCCCTCCTCCCTCCTTCTATGGCTTTGCTTGAGCATCTCCTGGCTATAAGACCAGTTCATGTGAGCCTCACAAGAAGAGAGCACCTCGTTCCT... |
Task1_train_5651 | A variant affecting Chromosome 2, within the gene COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Autosomal recessive Alport syndrome | TTGTCTCTCTCCTTTTTTAACAACACTTTATCCAAGCAATCAGATGGTTCCTTCTTTGGTCTTCTTGCTCCAAAGATAGCTGGTTCAAGGCCAGTTTTATCCTTGGCACTTTTCATGACCTTCAAAGCACATTATTCTCAGGTAATAGCATTATCTCAATTCACATGGACAGTATGAAAGTAGATTTAGCATACATTTTGACAAATAGCTCTTTCCAGAAGCCCTGCTCCCTCCTCCCTCCTTCTATGGCTTTGCTTGAGCATCTCCTGGCTATAAGACCAGTTCATGTGAGCCTCACAAGAAGAGAGCACCTCGTTCCT... | TTGTCTCTCTCCTTTTTTAACAACACTTTATCCAAGCAATCAGATGGTTCCTTCTTTGGTCTTCTTGCTCCAAAGATAGCTGGTTCAAGGCCAGTTTTATCCTTGGCACTTTTCATGACCTTCAAAGCACATTATTCTCAGGTAATAGCATTATCTCAATTCACATGGACAGTATGAAAGTAGATTTAGCATACATTTTGACAAATAGCTCTTTCCAGAAGCCCTGCTCCCTCCTCCCTCCTTCTATGGCTTTGCTTGAGCATCTCCTGGCTATAAGACCAGTTCATGTGAGCCTCACAAGAAGAGAGCACCTCGTTCCT... |
Task1_train_5652 | Gene COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Alport syndrome 3b, autosomal recessive | TTGTCTCTCTCCTTTTTTAACAACACTTTATCCAAGCAATCAGATGGTTCCTTCTTTGGTCTTCTTGCTCCAAAGATAGCTGGTTCAAGGCCAGTTTTATCCTTGGCACTTTTCATGACCTTCAAAGCACATTATTCTCAGGTAATAGCATTATCTCAATTCACATGGACAGTATGAAAGTAGATTTAGCATACATTTTGACAAATAGCTCTTTCCAGAAGCCCTGCTCCCTCCTCCCTCCTTCTATGGCTTTGCTTGAGCATCTCCTGGCTATAAGACCAGTTCATGTGAGCCTCACAAGAAGAGAGCACCTCGTTCCT... | TTGTCTCTCTCCTTTTTTAACAACACTTTATCCAAGCAATCAGATGGTTCCTTCTTTGGTCTTCTTGCTCCAAAGATAGCTGGTTCAAGGCCAGTTTTATCCTTGGCACTTTTCATGACCTTCAAAGCACATTATTCTCAGGTAATAGCATTATCTCAATTCACATGGACAGTATGAAAGTAGATTTAGCATACATTTTGACAAATAGCTCTTTCCAGAAGCCCTGCTCCCTCCTCCCTCCTTCTATGGCTTTGCTTGAGCATCTCCTGGCTATAAGACCAGTTCATGTGAGCCTCACAAGAAGAGAGCACCTCGTTCCT... |
Task1_train_5653 | A genomic change on Chromosome 2 affects COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Autosomal dominant Alport syndrome | TCCCTTTATTTGAAATATAGGGAGCACCAGGTACTCCAGGTCTTCCAGGACCCAGAGGTGATCCTGGATTCCAGGGGTTTCCAGGCGTGAAAGGTACTGTTTTTGTGCATTGCTCTTTATATGCAAATACCATAACCTCAATTCATATTTTAGGGCACACAAGTGTTTGCTGAAGTACAGACAGCTGGGGTTAGTACAAATAGGACCTCAATACGAGTGAAGTAGGAAGGCTCCACTACACTATTTCAAGATTCTTTGAAATAGAGTATTTCTTCAGATCAATGGCTCTCGGTAACCTTCTTTTATTTGTGTAAAAGACT... | TCCCTTTATTTGAAATATAGGGAGCACCAGGTACTCCAGGTCTTCCAGGACCCAGAGGTGATCCTGGATTCCAGGGGTTTCCAGGCGTGAAAGGTACTGTTTTTGTGCATTGCTCTTTATATGCAAATACCATAACCTCAATTCATATTTTAGGGCACACAAGTGTTTGCTGAAGTACAGACAGCTGGGGTTAGTACAAATAGGACCTCAATACGAGTGAAGTAGGAAGGCTCCACTACACTATTTCAAGATTCTTTGAAATAGAGTATTTCTTCAGATCAATGGCTCTCGGTAACCTTCTTTTATTTGTGTAAAAGACT... |
Task1_train_5654 | A genetic alteration is present in COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Benign familial hematuria | TCCCTTTATTTGAAATATAGGGAGCACCAGGTACTCCAGGTCTTCCAGGACCCAGAGGTGATCCTGGATTCCAGGGGTTTCCAGGCGTGAAAGGTACTGTTTTTGTGCATTGCTCTTTATATGCAAATACCATAACCTCAATTCATATTTTAGGGCACACAAGTGTTTGCTGAAGTACAGACAGCTGGGGTTAGTACAAATAGGACCTCAATACGAGTGAAGTAGGAAGGCTCCACTACACTATTTCAAGATTCTTTGAAATAGAGTATTTCTTCAGATCAATGGCTCTCGGTAACCTTCTTTTATTTGTGTAAAAGACT... | TCCCTTTATTTGAAATATAGGGAGCACCAGGTACTCCAGGTCTTCCAGGACCCAGAGGTGATCCTGGATTCCAGGGGTTTCCAGGCGTGAAAGGTACTGTTTTTGTGCATTGCTCTTTATATGCAAATACCATAACCTCAATTCATATTTTAGGGCACACAAGTGTTTGCTGAAGTACAGACAGCTGGGGTTAGTACAAATAGGACCTCAATACGAGTGAAGTAGGAAGGCTCCACTACACTATTTCAAGATTCTTTGAAATAGAGTATTTCTTCAGATCAATGGCTCTCGGTAACCTTCTTTTATTTGTGTAAAAGACT... |
Task1_train_5655 | A change on Chromosome 2 affects gene COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Autosomal dominant Alport syndrome | TCCCTTTATTTGAAATATAGGGAGCACCAGGTACTCCAGGTCTTCCAGGACCCAGAGGTGATCCTGGATTCCAGGGGTTTCCAGGCGTGAAAGGTACTGTTTTTGTGCATTGCTCTTTATATGCAAATACCATAACCTCAATTCATATTTTAGGGCACACAAGTGTTTGCTGAAGTACAGACAGCTGGGGTTAGTACAAATAGGACCTCAATACGAGTGAAGTAGGAAGGCTCCACTACACTATTTCAAGATTCTTTGAAATAGAGTATTTCTTCAGATCAATGGCTCTCGGTAACCTTCTTTTATTTGTGTAAAAGACT... | TCCCTTTATTTGAAATATAGGGAGCACCAGGTACTCCAGGTCTTCCAGGACCCAGAGGTGATCCTGGATTCCAGGGGTTTCCAGGCGTGAAAGGTACTGTTTTTGTGCATTGCTCTTTATATGCAAATACCATAACCTCAATTCATATTTTAGGGCACACAAGTGTTTGCTGAAGTACAGACAGCTGGGGTTAGTACAAATAGGACCTCAATACGAGTGAAGTAGGAAGGCTCCACTACACTATTTCAAGATTCTTTGAAATAGAGTATTTCTTCAGATCAATGGCTCTCGGTAACCTTCTTTTATTTGTGTAAAAGACT... |
Task1_train_5656 | A genomic change on Chromosome 2 affects COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Autosomal dominant Alport syndrome | TCCCTTTATTTGAAATATAGGGAGCACCAGGTACTCCAGGTCTTCCAGGACCCAGAGGTGATCCTGGATTCCAGGGGTTTCCAGGCGTGAAAGGTACTGTTTTTGTGCATTGCTCTTTATATGCAAATACCATAACCTCAATTCATATTTTAGGGCACACAAGTGTTTGCTGAAGTACAGACAGCTGGGGTTAGTACAAATAGGACCTCAATACGAGTGAAGTAGGAAGGCTCCACTACACTATTTCAAGATTCTTTGAAATAGAGTATTTCTTCAGATCAATGGCTCTCGGTAACCTTCTTTTATTTGTGTAAAAGACT... | TCCCTTTATTTGAAATATAGGGAGCACCAGGTACTCCAGGTCTTCCAGGACCCAGAGGTGATCCTGGATTCCAGGGGTTTCCAGGCGTGAAAGGTACTGTTTTTGTGCATTGCTCTTTATATGCAAATACCATAACCTCAATTCATATTTTAGGGCACACAAGTGTTTGCTGAAGTACAGACAGCTGGGGTTAGTACAAATAGGACCTCAATACGAGTGAAGTAGGAAGGCTCCACTACACTATTTCAAGATTCTTTGAAATAGAGTATTTCTTCAGATCAATGGCTCTCGGTAACCTTCTTTTATTTGTGTAAAAGACT... |
Task1_train_5657 | A variant was discovered on Chromosome 2, affecting COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Hematuria, benign familial, 2 | TCCCTTTATTTGAAATATAGGGAGCACCAGGTACTCCAGGTCTTCCAGGACCCAGAGGTGATCCTGGATTCCAGGGGTTTCCAGGCGTGAAAGGTACTGTTTTTGTGCATTGCTCTTTATATGCAAATACCATAACCTCAATTCATATTTTAGGGCACACAAGTGTTTGCTGAAGTACAGACAGCTGGGGTTAGTACAAATAGGACCTCAATACGAGTGAAGTAGGAAGGCTCCACTACACTATTTCAAGATTCTTTGAAATAGAGTATTTCTTCAGATCAATGGCTCTCGGTAACCTTCTTTTATTTGTGTAAAAGACT... | TCCCTTTATTTGAAATATAGGGAGCACCAGGTACTCCAGGTCTTCCAGGACCCAGAGGTGATCCTGGATTCCAGGGGTTTCCAGGCGTGAAAGGTACTGTTTTTGTGCATTGCTCTTTATATGCAAATACCATAACCTCAATTCATATTTTAGGGCACACAAGTGTTTGCTGAAGTACAGACAGCTGGGGTTAGTACAAATAGGACCTCAATACGAGTGAAGTAGGAAGGCTCCACTACACTATTTCAAGATTCTTTGAAATAGAGTATTTCTTCAGATCAATGGCTCTCGGTAACCTTCTTTTATTTGTGTAAAAGACT... |
Task1_train_5658 | Here is a variant affecting COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Alport syndrome 3b, autosomal recessive | TCCCTTTATTTGAAATATAGGGAGCACCAGGTACTCCAGGTCTTCCAGGACCCAGAGGTGATCCTGGATTCCAGGGGTTTCCAGGCGTGAAAGGTACTGTTTTTGTGCATTGCTCTTTATATGCAAATACCATAACCTCAATTCATATTTTAGGGCACACAAGTGTTTGCTGAAGTACAGACAGCTGGGGTTAGTACAAATAGGACCTCAATACGAGTGAAGTAGGAAGGCTCCACTACACTATTTCAAGATTCTTTGAAATAGAGTATTTCTTCAGATCAATGGCTCTCGGTAACCTTCTTTTATTTGTGTAAAAGACT... | TCCCTTTATTTGAAATATAGGGAGCACCAGGTACTCCAGGTCTTCCAGGACCCAGAGGTGATCCTGGATTCCAGGGGTTTCCAGGCGTGAAAGGTACTGTTTTTGTGCATTGCTCTTTATATGCAAATACCATAACCTCAATTCATATTTTAGGGCACACAAGTGTTTGCTGAAGTACAGACAGCTGGGGTTAGTACAAATAGGACCTCAATACGAGTGAAGTAGGAAGGCTCCACTACACTATTTCAAGATTCTTTGAAATAGAGTATTTCTTCAGATCAATGGCTCTCGGTAACCTTCTTTTATTTGTGTAAAAGACT... |
Task1_train_5659 | This variant affects gene COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Autosomal dominant Alport syndrome | CATCTACCTTCTGCAGATGTTTCAAAGCACTCTTCTGGAAACTACCTCGATATCCAAATCTTCTATTTTTAGGATTGCTGACTTTGTTAAAGCAAGAAAAAATTCTAAATGTGCTTTCTGAATTTACTGACATATATCATGCTCAGATCTACTATATTAAAATGGTAAAGACTATAGACTTAAATTTTTAAAAATTCAAATATGATGTTAATATAATACTAATTGCATAACTACATGTGATTTAATATTGTCATAGGTGCACAGTAGAGTGCTATTAATCATTCAACTTTCCTTAAAGTGTGGTTTTTGAAGTGATAAAC... | CATCTACCTTCTGCAGATGTTTCAAAGCACTCTTCTGGAAACTACCTCGATATCCAAATCTTCTATTTTTAGGATTGCTGACTTTGTTAAAGCAAGAAAAAATTCTAAATGTGCTTTCTGAATTTACTGACATATATCATGCTCAGATCTACTATATTAAAATGGTAAAGACTATAGACTTAAATTTTTAAAAATTCAAATATGATGTTAATATAATACTAATTGCATAACTACATGTGATTTAATATTGTCATAGGTGCACAGTAGAGTGCTATTAATCATTCAACTTTCCTTAAAGTGTGGTTTTTGAAGTGATAAAC... |
Task1_train_5660 | Here is a genetic alteration in COL4A3, MFF-DT (collagen type IV alpha 3 chain| MFF divergent transcript) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Autosomal dominant Alport syndrome | GTCTGGTTGGGGAGGGAGTCAGCGTACAGTGGCAGCAGAAATGGATGGGAGTGAGGAAGTGGTAGCCAATGCCAATACCATAAATAATAGCCGTTCAATGAAAGAAAGGAGAAGGAAGTTAAAGAGGAATGGAAGAGAGGATAGCTCACTGGTTCTCATCTAGAACACGACAAGTGTGGATTAGCCTTGTCCAAATCCATACTCCAAAGTATAGAAAGTTTTTCTCCACAGAGAGAAAAATGTACAGAAACGATTTACTTTGTTTTTAACTCATATAAATAAACTAACCCTTATTACAGTGAAAAAAAAAGCCTTCTCTT... | GTCTGGTTGGGGAGGGAGTCAGCGTACAGTGGCAGCAGAAATGGATGGGAGTGAGGAAGTGGTAGCCAATGCCAATACCATAAATAATAGCCGTTCAATGAAAGAAAGGAGAAGGAAGTTAAAGAGGAATGGAAGAGAGGATAGCTCACTGGTTCTCATCTAGAACACGACAAGTGTGGATTAGCCTTGTCCAAATCCATACTCCAAAGTATAGAAAGTTTTTCTCCACAGAGAGAAAAATGTACAGAAACGATTTACTTTGTTTTTAACTCATATAAATAAACTAACCCTTATTACAGTGAAAAAAAAAGCCTTCTCTT... |
Task1_train_5661 | Gene SLC19A3 (solute carrier family 19 member 3) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | ATTGGGGATTACACTTCAACGTGAGATTTGGTGGGGACACAGATCCAAACCATATCAAAATCCAATTAAAAATTTTTTTGTTTGTTTTAGACACAGGGTCTTGCTATATTGGCCAAGATGGTCTCATACCCCTACCCTCAAATTAACCTCTCACTTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACAGCTTCCAGCCTTAATATAAATCTTGACTCAGCATTCTTTATTCTCACTGTCAGACTGCTCAATGCATCCCTTATTGAAGTTTCTTGAAGTTTCGAAAAACAGGTATGTTCAGATAATTTTCAGCA... | ATTGGGGATTACACTTCAACGTGAGATTTGGTGGGGACACAGATCCAAACCATATCAAAATCCAATTAAAAATTTTTTTGTTTGTTTTAGACACAGGGTCTTGCTATATTGGCCAAGATGGTCTCATACCCCTACCCTCAAATTAACCTCTCACTTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACAGCTTCCAGCCTTAATATAAATCTTGACTCAGCATTCTTTATTCTCACTGTCAGACTGCTCAATGCATCCCTTATTGAAGTTTCTTGAAGTTTCGAAAAACAGGTATGTTCAGATAATTTTCAGCA... |
Task1_train_5662 | A mutation found in SLC19A3 (solute carrier family 19 member 3) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Inborn genetic diseases | GCCTGGGTGAGAGAGCGAGACTGTCTCAAAAACCAAAACAAAACAAAATCAGGTGTTTTATTCCACTCCCCCCATCAGTGTTTTCTTATTTCTAATACTTCTAGAAACCTCCTTTAAGTTTTCCTATTTTAGACAGACACCACACAGGTGCTCTTTTTTGGGAGGAGGGGGATGAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCATAGCTCACTGTAGCCTCTGACTCCTGTGCTCAACCCATCCTCCCACCATGGCCTCCCAAGTAGCTGAGACTACAGGCACACACCACGCTGCCCAGCTAATT... | GCCTGGGTGAGAGAGCGAGACTGTCTCAAAAACCAAAACAAAACAAAATCAGGTGTTTTATTCCACTCCCCCCATCAGTGTTTTCTTATTTCTAATACTTCTAGAAACCTCCTTTAAGTTTTCCTATTTTAGACAGACACCACACAGGTGCTCTTTTTTGGGAGGAGGGGGATGAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCATAGCTCACTGTAGCCTCTGACTCCTGTGCTCAACCCATCCTCCCACCATGGCCTCCCAAGTAGCTGAGACTACAGGCACACACCACGCTGCCCAGCTAATT... |
Task1_train_5663 | A change on Chromosome 2 affects gene SLC19A3 (solute carrier family 19 member 3). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Biotin-responsive basal ganglia disease | GCCTGGGTGAGAGAGCGAGACTGTCTCAAAAACCAAAACAAAACAAAATCAGGTGTTTTATTCCACTCCCCCCATCAGTGTTTTCTTATTTCTAATACTTCTAGAAACCTCCTTTAAGTTTTCCTATTTTAGACAGACACCACACAGGTGCTCTTTTTTGGGAGGAGGGGGATGAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCATAGCTCACTGTAGCCTCTGACTCCTGTGCTCAACCCATCCTCCCACCATGGCCTCCCAAGTAGCTGAGACTACAGGCACACACCACGCTGCCCAGCTAATT... | GCCTGGGTGAGAGAGCGAGACTGTCTCAAAAACCAAAACAAAACAAAATCAGGTGTTTTATTCCACTCCCCCCATCAGTGTTTTCTTATTTCTAATACTTCTAGAAACCTCCTTTAAGTTTTCCTATTTTAGACAGACACCACACAGGTGCTCTTTTTTGGGAGGAGGGGGATGAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCATAGCTCACTGTAGCCTCTGACTCCTGTGCTCAACCCATCCTCCCACCATGGCCTCCCAAGTAGCTGAGACTACAGGCACACACCACGCTGCCCAGCTAATT... |
Task1_train_5664 | This variant lies on Chromosome 2 and affects the gene SLC19A3 (solute carrier family 19 member 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Thiamine metabolism dysfunction syndrome 2 (biotin/thiamine-responsive basal ganglia disease type) | GCCTGGGTGAGAGAGCGAGACTGTCTCAAAAACCAAAACAAAACAAAATCAGGTGTTTTATTCCACTCCCCCCATCAGTGTTTTCTTATTTCTAATACTTCTAGAAACCTCCTTTAAGTTTTCCTATTTTAGACAGACACCACACAGGTGCTCTTTTTTGGGAGGAGGGGGATGAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCATAGCTCACTGTAGCCTCTGACTCCTGTGCTCAACCCATCCTCCCACCATGGCCTCCCAAGTAGCTGAGACTACAGGCACACACCACGCTGCCCAGCTAATT... | GCCTGGGTGAGAGAGCGAGACTGTCTCAAAAACCAAAACAAAACAAAATCAGGTGTTTTATTCCACTCCCCCCATCAGTGTTTTCTTATTTCTAATACTTCTAGAAACCTCCTTTAAGTTTTCCTATTTTAGACAGACACCACACAGGTGCTCTTTTTTGGGAGGAGGGGGATGAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCATAGCTCACTGTAGCCTCTGACTCCTGTGCTCAACCCATCCTCCCACCATGGCCTCCCAAGTAGCTGAGACTACAGGCACACACCACGCTGCCCAGCTAATT... |
Task1_train_5665 | This is a variant in SLC19A3 (solute carrier family 19 member 3), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Biotin-responsive basal ganglia disease | CAAGAAATTGAAATAATTGACAGTAATTAGGGTTAGCACTTTTGTGTGGTTCTCTTTAACAAAGGTAAAAGGTATTTAGGGCTGGGGACAGTGGCGCACTCCTGTAATCCCAGCACTTTGGGAGGCTGAAGGGGGTGGATCACTTGAGGTCAGGAGTTAGAGACCAGCCTGGCCAACATGGTGAAACTCCAGCTCTACTAAAAATACAAAAATTAGCCAGCATGGTGGCGGGCACCTGCAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGGCAGAGTTTGCAATGAGCTGAAATCATGCC... | CAAGAAATTGAAATAATTGACAGTAATTAGGGTTAGCACTTTTGTGTGGTTCTCTTTAACAAAGGTAAAAGGTATTTAGGGCTGGGGACAGTGGCGCACTCCTGTAATCCCAGCACTTTGGGAGGCTGAAGGGGGTGGATCACTTGAGGTCAGGAGTTAGAGACCAGCCTGGCCAACATGGTGAAACTCCAGCTCTACTAAAAATACAAAAATTAGCCAGCATGGTGGCGGGCACCTGCAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGGCAGAGTTTGCAATGAGCTGAAATCATGCC... |
Task1_train_5666 | This gene mutation involves SLC19A3 (solute carrier family 19 member 3) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Biotin-responsive basal ganglia disease | AAATTGAAATAATTGACAGTAATTAGGGTTAGCACTTTTGTGTGGTTCTCTTTAACAAAGGTAAAAGGTATTTAGGGCTGGGGACAGTGGCGCACTCCTGTAATCCCAGCACTTTGGGAGGCTGAAGGGGGTGGATCACTTGAGGTCAGGAGTTAGAGACCAGCCTGGCCAACATGGTGAAACTCCAGCTCTACTAAAAATACAAAAATTAGCCAGCATGGTGGCGGGCACCTGCAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGGCAGAGTTTGCAATGAGCTGAAATCATGCCACTG... | AAATTGAAATAATTGACAGTAATTAGGGTTAGCACTTTTGTGTGGTTCTCTTTAACAAAGGTAAAAGGTATTTAGGGCTGGGGACAGTGGCGCACTCCTGTAATCCCAGCACTTTGGGAGGCTGAAGGGGGTGGATCACTTGAGGTCAGGAGTTAGAGACCAGCCTGGCCAACATGGTGAAACTCCAGCTCTACTAAAAATACAAAAATTAGCCAGCATGGTGGCGGGCACCTGCAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGGCAGAGTTTGCAATGAGCTGAAATCATGCCACTG... |
Task1_train_5667 | Here’s a variant in SLC19A3 (solute carrier family 19 member 3) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Biotin-responsive basal ganglia disease | GCACTTTGGGAGGCTGAAGGGGGTGGATCACTTGAGGTCAGGAGTTAGAGACCAGCCTGGCCAACATGGTGAAACTCCAGCTCTACTAAAAATACAAAAATTAGCCAGCATGGTGGCGGGCACCTGCAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGGCAGAGTTTGCAATGAGCTGAAATCATGCCACTGCAATCCAGCCTGGGTGACAGAGTAAGACTCTGTCTAAAATAAATAAATAAACAAAAGGTATTTAGATTTCAAATTACTACATTGACATATGACTAACTTTCCCACATG... | GCACTTTGGGAGGCTGAAGGGGGTGGATCACTTGAGGTCAGGAGTTAGAGACCAGCCTGGCCAACATGGTGAAACTCCAGCTCTACTAAAAATACAAAAATTAGCCAGCATGGTGGCGGGCACCTGCAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGGCAGAGTTTGCAATGAGCTGAAATCATGCCACTGCAATCCAGCCTGGGTGACAGAGTAAGACTCTGTCTAAAATAAATAAATAAACAAAAGGTATTTAGATTTCAAATTACTACATTGACATATGACTAACTTTCCCACATG... |
Task1_train_5668 | Chromosome 2 houses a mutation in gene SLC19A3 (solute carrier family 19 member 3). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Biotin-responsive basal ganglia disease | TTTCCCACATGTGATCATGACCACAGAGGAAAAAAAAAATAACTATTTTTCCCCCCATGGATTTGGAATGTAGGAGCAATAATTTCAGTGAAGCAATTCTGGCACAGTCCTGGTTTCCAGGAGTTAAACTGAAGCTTCCCAAAAGGGAGATAATAATAAAATAGAGGTCACACGGGTTTTCTAAAACTTTTTGTAAATGAGGGTGGGGCGAATTCTCACTTCCTAAAAAATATCTTCAAAGTCTCATTTGACATTTAAGCTTCCAGTTACTAGGAAATAAACATTTATTGTAGATTAAACTTCAAAGACAGATTTCCCTC... | TTTCCCACATGTGATCATGACCACAGAGGAAAAAAAAAATAACTATTTTTCCCCCCATGGATTTGGAATGTAGGAGCAATAATTTCAGTGAAGCAATTCTGGCACAGTCCTGGTTTCCAGGAGTTAAACTGAAGCTTCCCAAAAGGGAGATAATAATAAAATAGAGGTCACACGGGTTTTCTAAAACTTTTTGTAAATGAGGGTGGGGCGAATTCTCACTTCCTAAAAAATATCTTCAAAGTCTCATTTGACATTTAAGCTTCCAGTTACTAGGAAATAAACATTTATTGTAGATTAAACTTCAAAGACAGATTTCCCTC... |
Task1_train_5669 | Here’s a variant in SLC19A3 (solute carrier family 19 member 3) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not specified | AATAATTTCAGTGAAGCAATTCTGGCACAGTCCTGGTTTCCAGGAGTTAAACTGAAGCTTCCCAAAAGGGAGATAATAATAAAATAGAGGTCACACGGGTTTTCTAAAACTTTTTGTAAATGAGGGTGGGGCGAATTCTCACTTCCTAAAAAATATCTTCAAAGTCTCATTTGACATTTAAGCTTCCAGTTACTAGGAAATAAACATTTATTGTAGATTAAACTTCAAAGACAGATTTCCCTCTGATATTAAAATCCTGACTTTCACATCTCTTCCAGCCCTCATTTAAATACCATGAGAAAGCTGCTTTTGAAAGTTGT... | AATAATTTCAGTGAAGCAATTCTGGCACAGTCCTGGTTTCCAGGAGTTAAACTGAAGCTTCCCAAAAGGGAGATAATAATAAAATAGAGGTCACACGGGTTTTCTAAAACTTTTTGTAAATGAGGGTGGGGCGAATTCTCACTTCCTAAAAAATATCTTCAAAGTCTCATTTGACATTTAAGCTTCCAGTTACTAGGAAATAAACATTTATTGTAGATTAAACTTCAAAGACAGATTTCCCTCTGATATTAAAATCCTGACTTTCACATCTCTTCCAGCCCTCATTTAAATACCATGAGAAAGCTGCTTTTGAAAGTTGT... |
Task1_train_5670 | This variant affects gene SLC19A3 (solute carrier family 19 member 3) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; not specified | ATAAACATTTATTGTAGATTAAACTTCAAAGACAGATTTCCCTCTGATATTAAAATCCTGACTTTCACATCTCTTCCAGCCCTCATTTAAATACCATGAGAAAGCTGCTTTTGAAAGTTGTTGGTGTATAGCCTAGAATTGTTATAGGTGCATGCTAGCTAGTTCAAATCCTGTATTAACAAAACCCTCAGTGAGAATTTGGAATCCTTAATTTATTTTCTAAAATAATGAAAACATATACACATATATGTATATATTTTGATATTAAAAATAATCCTAAAAGAACAGGGCATGTTATTAACCTTTGTGCTAATGATGAA... | ATAAACATTTATTGTAGATTAAACTTCAAAGACAGATTTCCCTCTGATATTAAAATCCTGACTTTCACATCTCTTCCAGCCCTCATTTAAATACCATGAGAAAGCTGCTTTTGAAAGTTGTTGGTGTATAGCCTAGAATTGTTATAGGTGCATGCTAGCTAGTTCAAATCCTGTATTAACAAAACCCTCAGTGAGAATTTGGAATCCTTAATTTATTTTCTAAAATAATGAAAACATATACACATATATGTATATATTTTGATATTAAAAATAATCCTAAAAGAACAGGGCATGTTATTAACCTTTGTGCTAATGATGAA... |
Task1_train_5671 | Here is a variant affecting SLC19A3 (solute carrier family 19 member 3) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Biotin-responsive basal ganglia disease | ATAAACATTTATTGTAGATTAAACTTCAAAGACAGATTTCCCTCTGATATTAAAATCCTGACTTTCACATCTCTTCCAGCCCTCATTTAAATACCATGAGAAAGCTGCTTTTGAAAGTTGTTGGTGTATAGCCTAGAATTGTTATAGGTGCATGCTAGCTAGTTCAAATCCTGTATTAACAAAACCCTCAGTGAGAATTTGGAATCCTTAATTTATTTTCTAAAATAATGAAAACATATACACATATATGTATATATTTTGATATTAAAAATAATCCTAAAAGAACAGGGCATGTTATTAACCTTTGTGCTAATGATGAA... | ATAAACATTTATTGTAGATTAAACTTCAAAGACAGATTTCCCTCTGATATTAAAATCCTGACTTTCACATCTCTTCCAGCCCTCATTTAAATACCATGAGAAAGCTGCTTTTGAAAGTTGTTGGTGTATAGCCTAGAATTGTTATAGGTGCATGCTAGCTAGTTCAAATCCTGTATTAACAAAACCCTCAGTGAGAATTTGGAATCCTTAATTTATTTTCTAAAATAATGAAAACATATACACATATATGTATATATTTTGATATTAAAAATAATCCTAAAAGAACAGGGCATGTTATTAACCTTTGTGCTAATGATGAA... |
Task1_train_5672 | Here is a genetic alteration in SLC19A3 (solute carrier family 19 member 3) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Biotin-responsive basal ganglia disease | ATCTCTTCCAGCCCTCATTTAAATACCATGAGAAAGCTGCTTTTGAAAGTTGTTGGTGTATAGCCTAGAATTGTTATAGGTGCATGCTAGCTAGTTCAAATCCTGTATTAACAAAACCCTCAGTGAGAATTTGGAATCCTTAATTTATTTTCTAAAATAATGAAAACATATACACATATATGTATATATTTTGATATTAAAAATAATCCTAAAAGAACAGGGCATGTTATTAACCTTTGTGCTAATGATGAATTGGAATCTTAGGGATTCAACTAGAATTTCATTGTTTGGTGCTAATCCCTGAGCTCCTAAGAGTTACT... | ATCTCTTCCAGCCCTCATTTAAATACCATGAGAAAGCTGCTTTTGAAAGTTGTTGGTGTATAGCCTAGAATTGTTATAGGTGCATGCTAGCTAGTTCAAATCCTGTATTAACAAAACCCTCAGTGAGAATTTGGAATCCTTAATTTATTTTCTAAAATAATGAAAACATATACACATATATGTATATATTTTGATATTAAAAATAATCCTAAAAGAACAGGGCATGTTATTAACCTTTGTGCTAATGATGAATTGGAATCTTAGGGATTCAACTAGAATTTCATTGTTTGGTGCTAATCCCTGAGCTCCTAAGAGTTACT... |
Task1_train_5673 | This alteration occurs within gene SLC19A3 (solute carrier family 19 member 3) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; Biotin-responsive basal ganglia disease | TGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCCAAGATTCTTAAAAAATATAATTTCCTTCTTGTTTGAATATTAACATTAGACAAGTAGACCACAATGTTAAAAGAATCCAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACCTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCCCGTCTACAACTAAAAACACAAAAATTAGCCATGAATGGTGGCAGACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAAC... | TGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCCAAGATTCTTAAAAAATATAATTTCCTTCTTGTTTGAATATTAACATTAGACAAGTAGACCACAATGTTAAAAGAATCCAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACCTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCCCGTCTACAACTAAAAACACAAAAATTAGCCATGAATGGTGGCAGACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAAC... |
Task1_train_5674 | Located on Chromosome 2, this mutation impacts DAW1 (dynein assembly factor with WD repeats 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Ciliary dyskinesia, primary, 52 | CAAAATGTATTGTGTCACAGTTGGGGAGGTTAGAGGTCAGAGGTCAAGGTGTCATCAGGGTCAGTTCCTTCTGAGGCCTTGGGAAAGAAGCTGTTCCACAGCTCCTGTAGCTTCTGGTGGTTTGCTGGCAATCTTTGGTGTGGAGAAGCATCACCCTGAGCTCTGCCCTCATCTTCACATGGTTTTCCCTGTGCATGTCTGTGCCTATATGGCCTGTTCTTATAAGGATGTATTGAACTAGGGCCCACCCTACTGCGGCATGATCTCATCCTAACTTAATAATTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCTC... | CAAAATGTATTGTGTCACAGTTGGGGAGGTTAGAGGTCAGAGGTCAAGGTGTCATCAGGGTCAGTTCCTTCTGAGGCCTTGGGAAAGAAGCTGTTCCACAGCTCCTGTAGCTTCTGGTGGTTTGCTGGCAATCTTTGGTGTGGAGAAGCATCACCCTGAGCTCTGCCCTCATCTTCACATGGTTTTCCCTGTGCATGTCTGTGCCTATATGGCCTGTTCTTATAAGGATGTATTGAACTAGGGCCCACCCTACTGCGGCATGATCTCATCCTAACTTAATAATTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCTC... |
Task1_train_5675 | A mutation found in DAW1 (dynein assembly factor with WD repeats 1) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Primary ciliary dyskinesia | CAAAATGTATTGTGTCACAGTTGGGGAGGTTAGAGGTCAGAGGTCAAGGTGTCATCAGGGTCAGTTCCTTCTGAGGCCTTGGGAAAGAAGCTGTTCCACAGCTCCTGTAGCTTCTGGTGGTTTGCTGGCAATCTTTGGTGTGGAGAAGCATCACCCTGAGCTCTGCCCTCATCTTCACATGGTTTTCCCTGTGCATGTCTGTGCCTATATGGCCTGTTCTTATAAGGATGTATTGAACTAGGGCCCACCCTACTGCGGCATGATCTCATCCTAACTTAATAATTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCTC... | CAAAATGTATTGTGTCACAGTTGGGGAGGTTAGAGGTCAGAGGTCAAGGTGTCATCAGGGTCAGTTCCTTCTGAGGCCTTGGGAAAGAAGCTGTTCCACAGCTCCTGTAGCTTCTGGTGGTTTGCTGGCAATCTTTGGTGTGGAGAAGCATCACCCTGAGCTCTGCCCTCATCTTCACATGGTTTTCCCTGTGCATGTCTGTGCCTATATGGCCTGTTCTTATAAGGATGTATTGAACTAGGGCCCACCCTACTGCGGCATGATCTCATCCTAACTTAATAATTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCTC... |
Task1_train_5676 | Here is a genetic alteration in DAW1 (dynein assembly factor with WD repeats 1) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Ciliary dyskinesia, primary, 52 | AACAGCATTCGCCTCCACTGTCAGCAAAAGATTTAGTTAGCTGAAGATATTTAATATGGCAATTTAAGGAGCGTGTAAACTGCTTTTCCTGGTTCCGGTAAACACATAAGTTTATGTTGTGCGAAAAATATGCTGGGCAGCAAGTATCAAGTGTTCTGTAAGTTAGATGCAATTGAGGAAGTAGTTCCTGGAAATATGTAAAATTATAATTAAAATTAAATTATAAAATTATCCATTTTGAAACTACAAAGCTGTGTTTTAGGATTTTGTATAAACTTCCCCCAAAGGATCATTCACGGAGCAGGCCCACCCAGTCAGTG... | AACAGCATTCGCCTCCACTGTCAGCAAAAGATTTAGTTAGCTGAAGATATTTAATATGGCAATTTAAGGAGCGTGTAAACTGCTTTTCCTGGTTCCGGTAAACACATAAGTTTATGTTGTGCGAAAAATATGCTGGGCAGCAAGTATCAAGTGTTCTGTAAGTTAGATGCAATTGAGGAAGTAGTTCCTGGAAATATGTAAAATTATAATTAAAATTAAATTATAAAATTATCCATTTTGAAACTACAAAGCTGTGTTTTAGGATTTTGTATAAACTTCCCCCAAAGGATCATTCACGGAGCAGGCCCACCCAGTCAGTG... |
Task1_train_5677 | The gene DAW1 (dynein assembly factor with WD repeats 1), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Primary ciliary dyskinesia | AACAGCATTCGCCTCCACTGTCAGCAAAAGATTTAGTTAGCTGAAGATATTTAATATGGCAATTTAAGGAGCGTGTAAACTGCTTTTCCTGGTTCCGGTAAACACATAAGTTTATGTTGTGCGAAAAATATGCTGGGCAGCAAGTATCAAGTGTTCTGTAAGTTAGATGCAATTGAGGAAGTAGTTCCTGGAAATATGTAAAATTATAATTAAAATTAAATTATAAAATTATCCATTTTGAAACTACAAAGCTGTGTTTTAGGATTTTGTATAAACTTCCCCCAAAGGATCATTCACGGAGCAGGCCCACCCAGTCAGTG... | AACAGCATTCGCCTCCACTGTCAGCAAAAGATTTAGTTAGCTGAAGATATTTAATATGGCAATTTAAGGAGCGTGTAAACTGCTTTTCCTGGTTCCGGTAAACACATAAGTTTATGTTGTGCGAAAAATATGCTGGGCAGCAAGTATCAAGTGTTCTGTAAGTTAGATGCAATTGAGGAAGTAGTTCCTGGAAATATGTAAAATTATAATTAAAATTAAATTATAAAATTATCCATTTTGAAACTACAAAGCTGTGTTTTAGGATTTTGTATAAACTTCCCCCAAAGGATCATTCACGGAGCAGGCCCACCCAGTCAGTG... |
Task1_train_5678 | This sequence variant lies in DAW1 (dynein assembly factor with WD repeats 1) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Ciliary dyskinesia, primary, 52 | AAAAGATTTAGTTAGCTGAAGATATTTAATATGGCAATTTAAGGAGCGTGTAAACTGCTTTTCCTGGTTCCGGTAAACACATAAGTTTATGTTGTGCGAAAAATATGCTGGGCAGCAAGTATCAAGTGTTCTGTAAGTTAGATGCAATTGAGGAAGTAGTTCCTGGAAATATGTAAAATTATAATTAAAATTAAATTATAAAATTATCCATTTTGAAACTACAAAGCTGTGTTTTAGGATTTTGTATAAACTTCCCCCAAAGGATCATTCACGGAGCAGGCCCACCCAGTCAGTGATCTGAAGTTTAGATGTGTCATCAG... | AAAAGATTTAGTTAGCTGAAGATATTTAATATGGCAATTTAAGGAGCGTGTAAACTGCTTTTCCTGGTTCCGGTAAACACATAAGTTTATGTTGTGCGAAAAATATGCTGGGCAGCAAGTATCAAGTGTTCTGTAAGTTAGATGCAATTGAGGAAGTAGTTCCTGGAAATATGTAAAATTATAATTAAAATTAAATTATAAAATTATCCATTTTGAAACTACAAAGCTGTGTTTTAGGATTTTGTATAAACTTCCCCCAAAGGATCATTCACGGAGCAGGCCCACCCAGTCAGTGATCTGAAGTTTAGATGTGTCATCAG... |
Task1_train_5679 | Given this context: Chromosome 2, gene DAW1 (dynein assembly factor with WD repeats 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Primary ciliary dyskinesia | AAAAGATTTAGTTAGCTGAAGATATTTAATATGGCAATTTAAGGAGCGTGTAAACTGCTTTTCCTGGTTCCGGTAAACACATAAGTTTATGTTGTGCGAAAAATATGCTGGGCAGCAAGTATCAAGTGTTCTGTAAGTTAGATGCAATTGAGGAAGTAGTTCCTGGAAATATGTAAAATTATAATTAAAATTAAATTATAAAATTATCCATTTTGAAACTACAAAGCTGTGTTTTAGGATTTTGTATAAACTTCCCCCAAAGGATCATTCACGGAGCAGGCCCACCCAGTCAGTGATCTGAAGTTTAGATGTGTCATCAG... | AAAAGATTTAGTTAGCTGAAGATATTTAATATGGCAATTTAAGGAGCGTGTAAACTGCTTTTCCTGGTTCCGGTAAACACATAAGTTTATGTTGTGCGAAAAATATGCTGGGCAGCAAGTATCAAGTGTTCTGTAAGTTAGATGCAATTGAGGAAGTAGTTCCTGGAAATATGTAAAATTATAATTAAAATTAAATTATAAAATTATCCATTTTGAAACTACAAAGCTGTGTTTTAGGATTTTGTATAAACTTCCCCCAAAGGATCATTCACGGAGCAGGCCCACCCAGTCAGTGATCTGAAGTTTAGATGTGTCATCAG... |
Task1_train_5680 | This is a variant in TRIP12 (thyroid hormone receptor interactor 12), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Clark-Baraitser syndrome | TAACCAAACCATCTTTTAAAAAAAAAAAAAAAAAAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAA... | TAACCAAACCATCTTTTAAAAAAAAAAAAAAAAAAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAA... |
Task1_train_5681 | Consider a variant on Chromosome 2 in gene ECEL1 (endothelin converting enzyme like 1). Determine its clinical classification and disease relevance. | Pathogenic; Distal arthrogryposis type 5D | CGTCTGAAAAAGCAGTTTGGGAACTAGCAGGTGACACACAGTGCTGCTGGGCATCAGGCCACTTGCTCTGGACCAGCCTGGAAGCCAGGAACCTCATGTCTTGTCCCAGGCACCTCCCTGCACCCGTCCTCACTGCATCCTCAGCAGGACACAGAGAGAAGGGGCCTGGCCCCAGGAGTGTCCCAGCCTCATTGCATTTCCTGAGCTGGGCAGAAGGGACCCCTGTCTGTTGGCTTTGCTGGCTGCTCACCCCACAGGCTCCCCTGATGCTGAGGCCTCCCCTAAGCCGGTGTGGACACAGGAGGGATTGGTGGTGGGTA... | CGTCTGAAAAAGCAGTTTGGGAACTAGCAGGTGACACACAGTGCTGCTGGGCATCAGGCCACTTGCTCTGGACCAGCCTGGAAGCCAGGAACCTCATGTCTTGTCCCAGGCACCTCCCTGCACCCGTCCTCACTGCATCCTCAGCAGGACACAGAGAGAAGGGGCCTGGCCCCAGGAGTGTCCCAGCCTCATTGCATTTCCTGAGCTGGGCAGAAGGGACCCCTGTCTGTTGGCTTTGCTGGCTGCTCACCCCACAGGCTCCCCTGATGCTGAGGCCTCCCCTAAGCCGGTGTGGACACAGGAGGGATTGGTGGTGGGTA... |
Task1_train_5682 | Assess the clinical impact of this variant on gene ECEL1 (endothelin converting enzyme like 1), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Distal arthrogryposis type 5D | GAGGGAAACGGAGGCACCTACGTAGGGGTTTCTCCTCCTACCTCATCATTAGTGTTGCGCCACCTTTGAAACATCAAAATGAGCCTCAAACAAGTAAAGAAGACCCCAGGAAGTTACAAATAACAAACCTACACATTTTTCTAAATAACCAAGGATGTAGTGGGGAGCCAGGGTCCACAGCTGTCCTGACTCCTGAACCCAGCTGGGTCTGGGGCGATTGGAGCCACAGTACGCCGACACACACCTGGTAGACAAGGTCTGCAATGCCAGCCCTGCCCTCAGCCACAAACAGGGCAAGCTATGTACTCACTGTGGGAAGT... | GAGGGAAACGGAGGCACCTACGTAGGGGTTTCTCCTCCTACCTCATCATTAGTGTTGCGCCACCTTTGAAACATCAAAATGAGCCTCAAACAAGTAAAGAAGACCCCAGGAAGTTACAAATAACAAACCTACACATTTTTCTAAATAACCAAGGATGTAGTGGGGAGCCAGGGTCCACAGCTGTCCTGACTCCTGAACCCAGCTGGGTCTGGGGCGATTGGAGCCACAGTACGCCGACACACACCTGGTAGACAAGGTCTGCAATGCCAGCCCTGCCCTCAGCCACAAACAGGGCAAGCTATGTACTCACTGTGGGAAGT... |
Task1_train_5683 | A variant was discovered in gene ECEL1 (endothelin converting enzyme like 1), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Distal arthrogryposis type 5D | GAGGGAAACGGAGGCACCTACGTAGGGGTTTCTCCTCCTACCTCATCATTAGTGTTGCGCCACCTTTGAAACATCAAAATGAGCCTCAAACAAGTAAAGAAGACCCCAGGAAGTTACAAATAACAAACCTACACATTTTTCTAAATAACCAAGGATGTAGTGGGGAGCCAGGGTCCACAGCTGTCCTGACTCCTGAACCCAGCTGGGTCTGGGGCGATTGGAGCCACAGTACGCCGACACACACCTGGTAGACAAGGTCTGCAATGCCAGCCCTGCCCTCAGCCACAAACAGGGCAAGCTATGTACTCACTGTGGGAAGT... | GAGGGAAACGGAGGCACCTACGTAGGGGTTTCTCCTCCTACCTCATCATTAGTGTTGCGCCACCTTTGAAACATCAAAATGAGCCTCAAACAAGTAAAGAAGACCCCAGGAAGTTACAAATAACAAACCTACACATTTTTCTAAATAACCAAGGATGTAGTGGGGAGCCAGGGTCCACAGCTGTCCTGACTCCTGAACCCAGCTGGGTCTGGGGCGATTGGAGCCACAGTACGCCGACACACACCTGGTAGACAAGGTCTGCAATGCCAGCCCTGCCCTCAGCCACAAACAGGGCAAGCTATGTACTCACTGTGGGAAGT... |
Task1_train_5684 | The gene ECEL1 (endothelin converting enzyme like 1) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Distal arthrogryposis type 5D | AAGTCAGGGTCGTACAGGGTGGGCTGCAGGATGCCCGCGGGGAACACTACAAGAAGGGGGTGCTCAGTGGGAAACCCATCCACTTTCGGACCCTGCCCCGCCCGGCGTAGGGACACATCCCCTTACCCATCTGGTTCTTGTTGGGTAGATAGTAGGCATTGAGCGCCTGTGGGGGGAGCAGCCACCTGTGGAGGGATGCTGGGGTGAATGGGGGGAACACACTCCCTCCCCCGCTACCCTCACATCACAGCTTCCTCGTCAGCCATCTCCTGACAGTCTGGGGGTCACCCTGCCGGCCCCCACCCCATGCCCTGTGCTGG... | AAGTCAGGGTCGTACAGGGTGGGCTGCAGGATGCCCGCGGGGAACACTACAAGAAGGGGGTGCTCAGTGGGAAACCCATCCACTTTCGGACCCTGCCCCGCCCGGCGTAGGGACACATCCCCTTACCCATCTGGTTCTTGTTGGGTAGATAGTAGGCATTGAGCGCCTGTGGGGGGAGCAGCCACCTGTGGAGGGATGCTGGGGTGAATGGGGGGAACACACTCCCTCCCCCGCTACCCTCACATCACAGCTTCCTCGTCAGCCATCTCCTGACAGTCTGGGGGTCACCCTGCCGGCCCCCACCCCATGCCCTGTGCTGG... |
Task1_train_5685 | A mutation found in ECEL1 (endothelin converting enzyme like 1) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Distal arthrogryposis type 5D | GCAGGCCACCTGCCCTCCTGAGTGCCGTTAGTAGAGGGGCTGTGGACAGGCTGGGCAGGCAGGGTCAGGGCCCACCTCATACTCCTTGTCCACAGCATCGGGTTTCAGCAGGAAGTCCGGGTAGCCGACCATCACCATCATGTACTGGAGCTGCGGGCCGAGGGCAGGTGAAGGTGGCACCAGGCCTCGGGAGACAGCCCCCCGCCCCCCACCCTACCCACCAAGGAAGGGAGCACTAGGCCAGCCTGGGAGTGGGCTTCACAGTGGGGGAGGCAGGCCTGGTCAACTCCACGAAGGCCTCTTTGTCCCTTTTGTTCTCT... | GCAGGCCACCTGCCCTCCTGAGTGCCGTTAGTAGAGGGGCTGTGGACAGGCTGGGCAGGCAGGGTCAGGGCCCACCTCATACTCCTTGTCCACAGCATCGGGTTTCAGCAGGAAGTCCGGGTAGCCGACCATCACCATCATGTACTGGAGCTGCGGGCCGAGGGCAGGTGAAGGTGGCACCAGGCCTCGGGAGACAGCCCCCCGCCCCCCACCCTACCCACCAAGGAAGGGAGCACTAGGCCAGCCTGGGAGTGGGCTTCACAGTGGGGGAGGCAGGCCTGGTCAACTCCACGAAGGCCTCTTTGTCCCTTTTGTTCTCT... |
Task1_train_5686 | A variant was discovered on Chromosome 2, affecting ECEL1 (endothelin converting enzyme like 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Distal arthrogryposis type 5D | AAGCGCCATGCCAAAGTGGCGATTGGCCTGGCCCAAGCAGACCCGGGCCAGCTCCTGTGGCTTGTCGCTGCCCTCCATCTCCTGTGCCAGCTCGTGCAGTGCCTCACGGAATGGCGGGGACAGGTGTTCACTCAGGACCACCACCACGCGCCACACCAGGTAGTTGTGCAGGACCCTGGGGACCAGGTGAAGCCAGTGGGTGTCCAGACGGACATGCATGTGGGCCACCAAGGGCACCACCCCTACCTGTGCCCGCCAACCTGTGGCTGGACCCAGGACCCAGACAGCCCCACAAAGAAGGGACAGGGGGTCATCCCAGC... | AAGCGCCATGCCAAAGTGGCGATTGGCCTGGCCCAAGCAGACCCGGGCCAGCTCCTGTGGCTTGTCGCTGCCCTCCATCTCCTGTGCCAGCTCGTGCAGTGCCTCACGGAATGGCGGGGACAGGTGTTCACTCAGGACCACCACCACGCGCCACACCAGGTAGTTGTGCAGGACCCTGGGGACCAGGTGAAGCCAGTGGGTGTCCAGACGGACATGCATGTGGGCCACCAAGGGCACCACCCCTACCTGTGCCCGCCAACCTGTGGCTGGACCCAGGACCCAGACAGCCCCACAAAGAAGGGACAGGGGGTCATCCCAGC... |
Task1_train_5687 | A variant was discovered on Chromosome 2, affecting PRSS56 (serine protease 56). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Isolated microphthalmia 6 | GGACTCCGAGGAGGAGAGAGGACAGGGGTCTCTCACCCCAGCTCCTGGTCACCATGCTGCTGGCTGTGCTGCTGCTGCTACCCCTCCCAAGCTCATGGTTTGCCCACGGGCACCCACTGTACACACGCCTGCCCCCCAGCGCCCTGCAAGGTAAGTCCAGGCTGGCCCGAGAGCCGCGGGGTTGGGAGGAATGTAGAGGAAGTGGGACCCTGGGCGGGCGGGGACAGAAGAGCTTGTCACCCCCACTCATAAGGACCTTTGGCTCCTTCTGCCCACCCTGCTGCGAGAAGGGGCCAAGAACTGAGATATAGGTGGGAGAG... | GGACTCCGAGGAGGAGAGAGGACAGGGGTCTCTCACCCCAGCTCCTGGTCACCATGCTGCTGGCTGTGCTGCTGCTGCTACCCCTCCCAAGCTCATGGTTTGCCCACGGGCACCCACTGTACACACGCCTGCCCCCCAGCGCCCTGCAAGGTAAGTCCAGGCTGGCCCGAGAGCCGCGGGGTTGGGAGGAATGTAGAGGAAGTGGGACCCTGGGCGGGCGGGGACAGAAGAGCTTGTCACCCCCACTCATAAGGACCTTTGGCTCCTTCTGCCCACCCTGCTGCGAGAAGGGGCCAAGAACTGAGATATAGGTGGGAGAG... |
Task1_train_5688 | A variant has been detected on Chromosome 2 in PRSS56 (serine protease 56). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Isolated microphthalmia 6 | TTCAGTCAATAAAGCTGAGTTCTGCGATGTCTGTATCTTTGGGGTGGTGTCTTTAAAAAAAATTGTTAAGGAAAAGCACCTTTCAAAGATCCCAGTCCAGCTCAGTTGAATTAGGGAGACATCTTGGGCTGAGAACCTGGGAGCACGGGCTCTGAGTGCTGGGCCCAGCGTCCCCGGGGCTCACTTGCCTCCTCATTCTGTCCCAGGCTGGTGGGTCTCCCGAGGCAGGGCTCAGGGCTGGGGCCAGGAGGATGAGGCTGAGGCTCTTCCCCAACCACGCATGATTGTGTGCCCCCTGTCCCAGCAGTTCTGTCGGCCCA... | TTCAGTCAATAAAGCTGAGTTCTGCGATGTCTGTATCTTTGGGGTGGTGTCTTTAAAAAAAATTGTTAAGGAAAAGCACCTTTCAAAGATCCCAGTCCAGCTCAGTTGAATTAGGGAGACATCTTGGGCTGAGAACCTGGGAGCACGGGCTCTGAGTGCTGGGCCCAGCGTCCCCGGGGCTCACTTGCCTCCTCATTCTGTCCCAGGCTGGTGGGTCTCCCGAGGCAGGGCTCAGGGCTGGGGCCAGGAGGATGAGGCTGAGGCTCTTCCCCAACCACGCATGATTGTGTGCCCCCTGTCCCAGCAGTTCTGTCGGCCCA... |
Task1_train_5689 | A variant on Chromosome 2 in gene PRSS56 (serine protease 56) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Isolated microphthalmia 6 | CCCGTGCCCCAGTGAGCTTGCTGCCTACCCTGGGCCCATTCTGCTGCCTCTGTCCCTTCCCTTCAGTCTTCACTCTCCTCTTGGGGGCAGAGACTGTGTTGGGCCGCAACCTAGACTACGTTTGTGAAGGTCTGTCTCTCCGAGTGGAAAGGACACGCTAGGCTTGGGGCATGGCCTGTGCAAAGGCAGGGAGGCGGAAACACTCTGGGCTCCTGTGGTGACCAGGAGAAGTTCATGGTTGCTGAAATAGAACCCGTGTGGGCTGGAGGGCTGAGCGCGAAAGGAGAGATGGGGAGAGAGAGGCTCGGCCCAGCCTGGGG... | CCCGTGCCCCAGTGAGCTTGCTGCCTACCCTGGGCCCATTCTGCTGCCTCTGTCCCTTCCCTTCAGTCTTCACTCTCCTCTTGGGGGCAGAGACTGTGTTGGGCCGCAACCTAGACTACGTTTGTGAAGGTCTGTCTCTCCGAGTGGAAAGGACACGCTAGGCTTGGGGCATGGCCTGTGCAAAGGCAGGGAGGCGGAAACACTCTGGGCTCCTGTGGTGACCAGGAGAAGTTCATGGTTGCTGAAATAGAACCCGTGTGGGCTGGAGGGCTGAGCGCGAAAGGAGAGATGGGGAGAGAGAGGCTCGGCCCAGCCTGGGG... |
Task1_train_5690 | Chromosome 2 houses a mutation in gene PRSS56 (serine protease 56). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Isolated microphthalmia 6 | GGCCTGAGAGCCGGGTGGGCCTCGAAGGCGAGGATGGCCAGAACATGTCCCTCGTGACACCCCTTGCCCCTTTCTAGGGCCGTGCGGCGAGAGGCGTCCGAGCACTGCCAATGTGACGCGGGCCCACGGCCGCATCGTGGGGGGCAGCGCGGCGCCGCCCGGGGCCTGGCCCTGGCTGGTGAGGCTGCAGCTCGGCGGGCAGCCTCTGTGCGGCGGCGTCCTGGTAGCGGCCTCCTGGGTGCTCACGGCAGCGCACTGCTTTGTAGGGTAAGTAGGACCCCCAGGCCTTGCCCAGCTGGGGTCCCCGGCGCTGGGCCCCG... | GGCCTGAGAGCCGGGTGGGCCTCGAAGGCGAGGATGGCCAGAACATGTCCCTCGTGACACCCCTTGCCCCTTTCTAGGGCCGTGCGGCGAGAGGCGTCCGAGCACTGCCAATGTGACGCGGGCCCACGGCCGCATCGTGGGGGGCAGCGCGGCGCCGCCCGGGGCCTGGCCCTGGCTGGTGAGGCTGCAGCTCGGCGGGCAGCCTCTGTGCGGCGGCGTCCTGGTAGCGGCCTCCTGGGTGCTCACGGCAGCGCACTGCTTTGTAGGGTAAGTAGGACCCCCAGGCCTTGCCCAGCTGGGGTCCCCGGCGCTGGGCCCCG... |
Task1_train_5691 | This variant lies on Chromosome 2 and affects the gene PRSS56 (serine protease 56). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Isolated microphthalmia 6 | GTGACGCGGGCCCACGGCCGCATCGTGGGGGGCAGCGCGGCGCCGCCCGGGGCCTGGCCCTGGCTGGTGAGGCTGCAGCTCGGCGGGCAGCCTCTGTGCGGCGGCGTCCTGGTAGCGGCCTCCTGGGTGCTCACGGCAGCGCACTGCTTTGTAGGGTAAGTAGGACCCCCAGGCCTTGCCCAGCTGGGGTCCCCGGCGCTGGGCCCCGCACCTGCCGGGTTGTCCGGCGGGCGACGCGCGGGAAAGGTGGTCTCTGCTGCCCCCTGGCGGCGGCCGGCCCCGGGCTTCCCCATCTCAAGGCGCCGCGCCCGCCCCGCCAG... | GTGACGCGGGCCCACGGCCGCATCGTGGGGGGCAGCGCGGCGCCGCCCGGGGCCTGGCCCTGGCTGGTGAGGCTGCAGCTCGGCGGGCAGCCTCTGTGCGGCGGCGTCCTGGTAGCGGCCTCCTGGGTGCTCACGGCAGCGCACTGCTTTGTAGGGTAAGTAGGACCCCCAGGCCTTGCCCAGCTGGGGTCCCCGGCGCTGGGCCCCGCACCTGCCGGGTTGTCCGGCGGGCGACGCGCGGGAAAGGTGGTCTCTGCTGCCCCCTGGCGGCGGCCGGCCCCGGGCTTCCCCATCTCAAGGCGCCGCGCCCGCCCCGCCAG... |
Task1_train_5692 | This sequence change occurs on Chromosome 2, altering PRSS56 (serine protease 56). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Isolated microphthalmia 6 | AGGTATGAACCCAGTCTGATGAGAAAAGGCCGGCTGAGCCTTCCCAGGGCCACTACGGCCTCTTTTCCTTCCACGTCTGTCTGTCACTCGACTTCTCTGAGCCTCTCTGTCCTCATCCCTAAAATGGACACAAGTGGCAAGCTCACACCTGCCAGGCGTAAGGCAGGCGTCATAGGGGGCAGGTGAATGCAGCGTCCTCTCTCTTGGCCCCGCAGGGTGACTCGGGAGGCCCCCTGACCTGTTCTGAGCCTGGCCCCCGCCCTAGAGAGGTCCTGTTCGGAGTCACCTCCTGGGGGGACGGCTGCGGGGAGCCAGGGAAG... | AGGTATGAACCCAGTCTGATGAGAAAAGGCCGGCTGAGCCTTCCCAGGGCCACTACGGCCTCTTTTCCTTCCACGTCTGTCTGTCACTCGACTTCTCTGAGCCTCTCTGTCCTCATCCCTAAAATGGACACAAGTGGCAAGCTCACACCTGCCAGGCGTAAGGCAGGCGTCATAGGGGGCAGGTGAATGCAGCGTCCTCTCTCTTGGCCCCGCAGGGTGACTCGGGAGGCCCCCTGACCTGTTCTGAGCCTGGCCCCCGCCCTAGAGAGGTCCTGTTCGGAGTCACCTCCTGGGGGGACGGCTGCGGGGAGCCAGGGAAG... |
Task1_train_5693 | Mutation context: Chromosome 2, Gene CHRND (cholinergic receptor nicotinic delta subunit). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Lethal multiple pterygium syndrome | TCTGCACCCCGCCCGGGAGCTGCGGCTTCACTCAGGTACCCCGCGCCCTCCAGCCCAGCCCAGCCCTGGCCCGGCCCCACCCGCGCGGCACAGCCACTTTCTCCGCCGAGGCGGTACCCTAACCCTGTGCCTCCCCAGGATCGCGGGCTGCAGGCACTCGGTTCCCGAAGCGGAGGCCGGAGCCGCGCGGAGAAGCCAACGGTAATGACGCCCCCTGCCGACCTTCAGGAGGGGATAGGCTGAGGGCCTGGACGAGGTCGGAAGCGCTTCTACTGCAGCTCCGGAAAGGGCTTACCCCATGGGGCAACAGGGTGGACTCG... | TCTGCACCCCGCCCGGGAGCTGCGGCTTCACTCAGGTACCCCGCGCCCTCCAGCCCAGCCCAGCCCTGGCCCGGCCCCACCCGCGCGGCACAGCCACTTTCTCCGCCGAGGCGGTACCCTAACCCTGTGCCTCCCCAGGATCGCGGGCTGCAGGCACTCGGTTCCCGAAGCGGAGGCCGGAGCCGCGCGGAGAAGCCAACGGTAATGACGCCCCCTGCCGACCTTCAGGAGGGGATAGGCTGAGGGCCTGGACGAGGTCGGAAGCGCTTCTACTGCAGCTCCGGAAAGGGCTTACCCCATGGGGCAACAGGGTGGACTCG... |
Task1_train_5694 | Given this variant in gene CHRND (cholinergic receptor nicotinic delta subunit) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Congenital myasthenic syndrome 3B | CCTATAGCATAAGAGGATAAGTGTGTCCCCTGGGAGGCCATCCTGAGGTGCTGGTGGGAGTGCCACCCCCAGTTCCATACCGCAACCGTTCATTATTCCCGGGGCCTCTCCTCTTCCTCCAGGCTGCCCTGGGCTGGAGCCCCTGCGACAGAAGTTGGCTGCCCTGCAGGGGGCCCATGCCTGGATCCTGCAGGTCCCCTCGGAGCACCTGGCCATGAACTTTCATGAGGTAGGTCCCCAGGCTTCCAGACTCCTTCACGATGGCCTGGGAAGGCTGAGACCCAGCCCAGGGAAGATGCAGAGGGCCCAGCCCAGATACC... | CCTATAGCATAAGAGGATAAGTGTGTCCCCTGGGAGGCCATCCTGAGGTGCTGGTGGGAGTGCCACCCCCAGTTCCATACCGCAACCGTTCATTATTCCCGGGGCCTCTCCTCTTCCTCCAGGCTGCCCTGGGCTGGAGCCCCTGCGACAGAAGTTGGCTGCCCTGCAGGGGGCCCATGCCTGGATCCTGCAGGTCCCCTCGGAGCACCTGGCCATGAACTTTCATGAGGTAGGTCCCCAGGCTTCCAGACTCCTTCACGATGGCCTGGGAAGGCTGAGACCCAGCCCAGGGAAGATGCAGAGGGCCCAGCCCAGATACC... |
Task1_train_5695 | A sequence alteration has been identified in CHRND (cholinergic receptor nicotinic delta subunit) on Chromosome 2. Is it disease-inducing or harmless? | Pathogenic; Lethal multiple pterygium syndrome | GCCCTGGCAGAAGGGGAGCCCGAGGGACCCTGGATGGATGTAGGGCAGGGGCCCGGGCTGGAGAGGAAGGGGCACCACCCACTCAACCCTCAGGTACCCCCCGCCAGGCAACCCTGAGCCATGTCTGGGCCCCCAGCCCCTGGGGAGGACCTACTGCTCCCAGGGGCTGAGAGGGGTTCGGGAGCATAATGACAAACTGTCGCTGCCCCAGTGGCTGGGTGTGTGTGGGTGGGATGGGGTGGGGGTCCTGGGCCCCCCGTGTCTTCCCAGGTTTACAATCAGAGAATCACAGCTGCTTTAATAAATGTTATTTATAATAC... | GCCCTGGCAGAAGGGGAGCCCGAGGGACCCTGGATGGATGTAGGGCAGGGGCCCGGGCTGGAGAGGAAGGGGCACCACCCACTCAACCCTCAGGTACCCCCCGCCAGGCAACCCTGAGCCATGTCTGGGCCCCCAGCCCCTGGGGAGGACCTACTGCTCCCAGGGGCTGAGAGGGGTTCGGGAGCATAATGACAAACTGTCGCTGCCCCAGTGGCTGGGTGTGTGTGGGTGGGATGGGGTGGGGGTCCTGGGCCCCCCGTGTCTTCCCAGGTTTACAATCAGAGAATCACAGCTGCTTTAATAAATGTTATTTATAATAC... |
Task1_train_5696 | A sequence alteration has been identified in CHRND (cholinergic receptor nicotinic delta subunit) on Chromosome 2. Is it disease-inducing or harmless? | Pathogenic; Congenital myasthenic syndrome 3B | CCTGGCAGAAGGGGAGCCCGAGGGACCCTGGATGGATGTAGGGCAGGGGCCCGGGCTGGAGAGGAAGGGGCACCACCCACTCAACCCTCAGGTACCCCCCGCCAGGCAACCCTGAGCCATGTCTGGGCCCCCAGCCCCTGGGGAGGACCTACTGCTCCCAGGGGCTGAGAGGGGTTCGGGAGCATAATGACAAACTGTCGCTGCCCCAGTGGCTGGGTGTGTGTGGGTGGGATGGGGTGGGGGTCCTGGGCCCCCCGTGTCTTCCCAGGTTTACAATCAGAGAATCACAGCTGCTTTAATAAATGTTATTTATAATACAC... | CCTGGCAGAAGGGGAGCCCGAGGGACCCTGGATGGATGTAGGGCAGGGGCCCGGGCTGGAGAGGAAGGGGCACCACCCACTCAACCCTCAGGTACCCCCCGCCAGGCAACCCTGAGCCATGTCTGGGCCCCCAGCCCCTGGGGAGGACCTACTGCTCCCAGGGGCTGAGAGGGGTTCGGGAGCATAATGACAAACTGTCGCTGCCCCAGTGGCTGGGTGTGTGTGGGTGGGATGGGGTGGGGGTCCTGGGCCCCCCGTGTCTTCCCAGGTTTACAATCAGAGAATCACAGCTGCTTTAATAAATGTTATTTATAATACAC... |
Task1_train_5697 | This alteration in CHRND (cholinergic receptor nicotinic delta subunit) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Lethal multiple pterygium syndrome | CCCTGGCGGTGTGTGGTAAGGGAAGACACCCTCCCCACCCTGGGGTCCCCCGTGATGCTTACCCAGGCCCCACACCGCATGGCTCCTCACTCACTCCACTCCCACTCTGCCATCTCTCCCTGTGGGGGGCCGCCTTCTGGGGTCCCCACTCCCAGGGAGTGGTTGGGTTCCCCCCTGCTCATCCCAACCTCATGGTCCAGCAGGACCTCAGGGCAGCTTCCTTCCTGAGTCCCCTGCCCAGGGCCCCATTCAGTCCTTGTCGCTGACCCTCCCCAGGCAGCTGGGGGCTGAACGAGGAGGAGCGGCTGATCCGGCACCTG... | CCCTGGCGGTGTGTGGTAAGGGAAGACACCCTCCCCACCCTGGGGTCCCCCGTGATGCTTACCCAGGCCCCACACCGCATGGCTCCTCACTCACTCCACTCCCACTCTGCCATCTCTCCCTGTGGGGGGCCGCCTTCTGGGGTCCCCACTCCCAGGGAGTGGTTGGGTTCCCCCCTGCTCATCCCAACCTCATGGTCCAGCAGGACCTCAGGGCAGCTTCCTTCCTGAGTCCCCTGCCCAGGGCCCCATTCAGTCCTTGTCGCTGACCCTCCCCAGGCAGCTGGGGGCTGAACGAGGAGGAGCGGCTGATCCGGCACCTG... |
Task1_train_5698 | Given this context: Chromosome 2, gene CHRND (cholinergic receptor nicotinic delta subunit) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Lethal multiple pterygium syndrome | AATCGTCTATGCTCACAGTAGAAATAATGCTCCCTTAGTTGTGCAGTGAGCATCCTGCACAGCTGTCCATGACAGACCTGAATCCGCACTCTGTACCTGCCTTCCCCAAACCTCTTTTGTCACAGCTCTCAGACCCTGTTCAGTCTTCTCTCAGGGAAGTGGGGGGAGCCAGGAGCCTGGATGGCTGCAGAGTGCACTGGTGACATGCCTTTGGGATTCCAGGGCTGGACAGACAACCGGCTGAAGTGGAATGCTGAAGAATTTGGAAACATCAGTGTCCTGCGCCTCCCCCCGGACATGGTGTGGCTCCCAGAGATTGT... | AATCGTCTATGCTCACAGTAGAAATAATGCTCCCTTAGTTGTGCAGTGAGCATCCTGCACAGCTGTCCATGACAGACCTGAATCCGCACTCTGTACCTGCCTTCCCCAAACCTCTTTTGTCACAGCTCTCAGACCCTGTTCAGTCTTCTCTCAGGGAAGTGGGGGGAGCCAGGAGCCTGGATGGCTGCAGAGTGCACTGGTGACATGCCTTTGGGATTCCAGGGCTGGACAGACAACCGGCTGAAGTGGAATGCTGAAGAATTTGGAAACATCAGTGTCCTGCGCCTCCCCCCGGACATGGTGTGGCTCCCAGAGATTGT... |
Task1_train_5699 | A variant was discovered in gene CHRND (cholinergic receptor nicotinic delta subunit), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Congenital myasthenic syndrome 3B | CAGTGAGCATCCTGCACAGCTGTCCATGACAGACCTGAATCCGCACTCTGTACCTGCCTTCCCCAAACCTCTTTTGTCACAGCTCTCAGACCCTGTTCAGTCTTCTCTCAGGGAAGTGGGGGGAGCCAGGAGCCTGGATGGCTGCAGAGTGCACTGGTGACATGCCTTTGGGATTCCAGGGCTGGACAGACAACCGGCTGAAGTGGAATGCTGAAGAATTTGGAAACATCAGTGTCCTGCGCCTCCCCCCGGACATGGTGTGGCTCCCAGAGATTGTGCTGGAGAACAAGTTGAGCCAAGCCCTCCCTGACCTCCCCTCT... | CAGTGAGCATCCTGCACAGCTGTCCATGACAGACCTGAATCCGCACTCTGTACCTGCCTTCCCCAAACCTCTTTTGTCACAGCTCTCAGACCCTGTTCAGTCTTCTCTCAGGGAAGTGGGGGGAGCCAGGAGCCTGGATGGCTGCAGAGTGCACTGGTGACATGCCTTTGGGATTCCAGGGCTGGACAGACAACCGGCTGAAGTGGAATGCTGAAGAATTTGGAAACATCAGTGTCCTGCGCCTCCCCCCGGACATGGTGTGGCTCCCAGAGATTGTGCTGGAGAACAAGTTGAGCCAAGCCCTCCCTGACCTCCCCTCT... |
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