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 |
|---|---|---|---|---|
Task1_train_30800 | An alteration has been detected in COL4A5 (collagen type IV alpha 5 chain) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | AACAACTTGGAGCTATAATTGTAAACATTATTAACGTGATGTGTAGATGCAGAGAGAATAAGGATAAGAGTTTTTGTCTTGTTAGGGAAAGATAATATAAATCTTGTTAACTGTATAAATTTTTAGAAATGTATACATGTTTAAGTACATAGGTTAAAATGTTAATAGTAGCCACTAGAGAAGAATAGAAATAAAATGTATAACATACACACCAATTGAAGAAAGAAAATGACTAAAAGTCTCATATATAGTATAAGTTAAGATGGGGGCAAAATAAAGACAAATCTGGGTAAATAGAAAATAAAATATAAGGTGACAAG... | AACAACTTGGAGCTATAATTGTAAACATTATTAACGTGATGTGTAGATGCAGAGAGAATAAGGATAAGAGTTTTTGTCTTGTTAGGGAAAGATAATATAAATCTTGTTAACTGTATAAATTTTTAGAAATGTATACATGTTTAAGTACATAGGTTAAAATGTTAATAGTAGCCACTAGAGAAGAATAGAAATAAAATGTATAACATACACACCAATTGAAGAAAGAAAATGACTAAAAGTCTCATATATAGTATAAGTTAAGATGGGGGCAAAATAAAGACAAATCTGGGTAAATAGAAAATAAAATATAAGGTGACAAG... |
Task1_train_30801 | The gene COL4A5 (collagen type IV alpha 5 chain) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; X-linked Alport syndrome | TTATTAACGTGATGTGTAGATGCAGAGAGAATAAGGATAAGAGTTTTTGTCTTGTTAGGGAAAGATAATATAAATCTTGTTAACTGTATAAATTTTTAGAAATGTATACATGTTTAAGTACATAGGTTAAAATGTTAATAGTAGCCACTAGAGAAGAATAGAAATAAAATGTATAACATACACACCAATTGAAGAAAGAAAATGACTAAAAGTCTCATATATAGTATAAGTTAAGATGGGGGCAAAATAAAGACAAATCTGGGTAAATAGAAAATAAAATATAAGGTGACAAGAAGAAATTAAAAATAAGTCAGTAACTC... | TTATTAACGTGATGTGTAGATGCAGAGAGAATAAGGATAAGAGTTTTTGTCTTGTTAGGGAAAGATAATATAAATCTTGTTAACTGTATAAATTTTTAGAAATGTATACATGTTTAAGTACATAGGTTAAAATGTTAATAGTAGCCACTAGAGAAGAATAGAAATAAAATGTATAACATACACACCAATTGAAGAAAGAAAATGACTAAAAGTCTCATATATAGTATAAGTTAAGATGGGGGCAAAATAAAGACAAATCTGGGTAAATAGAAAATAAAATATAAGGTGACAAGAAGAAATTAAAAATAAGTCAGTAACTC... |
Task1_train_30802 | Here is a genetic alteration in COL4A5 (collagen type IV alpha 5 chain) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | GTGATGTGTAGATGCAGAGAGAATAAGGATAAGAGTTTTTGTCTTGTTAGGGAAAGATAATATAAATCTTGTTAACTGTATAAATTTTTAGAAATGTATACATGTTTAAGTACATAGGTTAAAATGTTAATAGTAGCCACTAGAGAAGAATAGAAATAAAATGTATAACATACACACCAATTGAAGAAAGAAAATGACTAAAAGTCTCATATATAGTATAAGTTAAGATGGGGGCAAAATAAAGACAAATCTGGGTAAATAGAAAATAAAATATAAGGTGACAAGAAGAAATTAAAAATAAGTCAGTAACTCCAACAAAT... | GTGATGTGTAGATGCAGAGAGAATAAGGATAAGAGTTTTTGTCTTGTTAGGGAAAGATAATATAAATCTTGTTAACTGTATAAATTTTTAGAAATGTATACATGTTTAAGTACATAGGTTAAAATGTTAATAGTAGCCACTAGAGAAGAATAGAAATAAAATGTATAACATACACACCAATTGAAGAAAGAAAATGACTAAAAGTCTCATATATAGTATAAGTTAAGATGGGGGCAAAATAAAGACAAATCTGGGTAAATAGAAAATAAAATATAAGGTGACAAGAAGAAATTAAAAATAAGTCAGTAACTCCAACAAAT... |
Task1_train_30803 | With a mutation on Chromosome X in gene COL4A5 (collagen type IV alpha 5 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; X-linked Alport syndrome | ATATTGGGCAAATGCTATACATAAAAAAGCTGGTTTAGCAATTCTAATATAGTATGAAATATAATTAAATTCAAAACTTGAAACTATAAAAATTCTAGAAGAAAATGCAGGAAAAACTTTTCTGGACATTGACCTAGGTAAAGATTTATGACTAAGACTTCAAAAGTAAATGTAACCAAAACAACAATAGACAATTGGGACTTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACAATCAGTGGAGTAAATAGCCTACAGAATGGGTGAAAATAATTGTAAACTGTGCATCTGGCAAAGGACTAATATCCAGAATC... | ATATTGGGCAAATGCTATACATAAAAAAGCTGGTTTAGCAATTCTAATATAGTATGAAATATAATTAAATTCAAAACTTGAAACTATAAAAATTCTAGAAGAAAATGCAGGAAAAACTTTTCTGGACATTGACCTAGGTAAAGATTTATGACTAAGACTTCAAAAGTAAATGTAACCAAAACAACAATAGACAATTGGGACTTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACAATCAGTGGAGTAAATAGCCTACAGAATGGGTGAAAATAATTGTAAACTGTGCATCTGGCAAAGGACTAATATCCAGAATC... |
Task1_train_30804 | A mutation on Chromosome X affecting COL4A5 (collagen type IV alpha 5 chain) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; X-linked Alport syndrome | TCCTCTGTGTTTTCTTCTAGACACTTTATTGTTTTACCTTTCACGTTTTGATCTTTCTTCAATTAATTTTTGTGTATAGTTTGGAGTAGGGATCAAAGTTCATTTTTCCCATATGGATGTCCAGTTGACTCAGTACTATAGAACAAAAGATCATCAATTACCCCAATGAATTGCATTAGCACTTTTTGTAGATCACATGACCATATGTGTGTAGGTCTGTTTCTGACTGCTCTATTCTGTTCTGTTGTTTCATTAGTCTCTCTTTGCACCAATACGATACTATCTTAATTACTGTGGCTTTATTGTAAGTGTTGGATATT... | TCCTCTGTGTTTTCTTCTAGACACTTTATTGTTTTACCTTTCACGTTTTGATCTTTCTTCAATTAATTTTTGTGTATAGTTTGGAGTAGGGATCAAAGTTCATTTTTCCCATATGGATGTCCAGTTGACTCAGTACTATAGAACAAAAGATCATCAATTACCCCAATGAATTGCATTAGCACTTTTTGTAGATCACATGACCATATGTGTGTAGGTCTGTTTCTGACTGCTCTATTCTGTTCTGTTGTTTCATTAGTCTCTCTTTGCACCAATACGATACTATCTTAATTACTGTGGCTTTATTGTAAGTGTTGGATATT... |
Task1_train_30805 | The following genetic variant occurs in COL4A5 (collagen type IV alpha 5 chain) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | CAAGCAATCCTCCCACTTTAGCCTCCTGGGTAGCTGGCAAGTACAGGCATGCACCACCATGCCTGGCTAATGTTTTTATTTTTTCTGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTCATCTCAAGCTATCTGCCTGCCTCGGGCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGCAGTCTGCCTATACTTAATATTCTATTAAAATATTTCATATATACATTTTGATAATTCATTTCCTTTATTGATTATTATCCCTTTCCCCTGGTAGAGTGTGAGGCATGTAGACATGAATTTTTA... | CAAGCAATCCTCCCACTTTAGCCTCCTGGGTAGCTGGCAAGTACAGGCATGCACCACCATGCCTGGCTAATGTTTTTATTTTTTCTGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTCATCTCAAGCTATCTGCCTGCCTCGGGCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGCAGTCTGCCTATACTTAATATTCTATTAAAATATTTCATATATACATTTTGATAATTCATTTCCTTTATTGATTATTATCCCTTTCCCCTGGTAGAGTGTGAGGCATGTAGACATGAATTTTTA... |
Task1_train_30806 | This variant lies on Chromosome X and affects the gene COL4A5 (collagen type IV alpha 5 chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | TAGCCTCCTGGGTAGCTGGCAAGTACAGGCATGCACCACCATGCCTGGCTAATGTTTTTATTTTTTCTGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTCATCTCAAGCTATCTGCCTGCCTCGGGCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGCAGTCTGCCTATACTTAATATTCTATTAAAATATTTCATATATACATTTTGATAATTCATTTCCTTTATTGATTATTATCCCTTTCCCCTGGTAGAGTGTGAGGCATGTAGACATGAATTTTTATCCATGACTTTTCTTTTG... | TAGCCTCCTGGGTAGCTGGCAAGTACAGGCATGCACCACCATGCCTGGCTAATGTTTTTATTTTTTCTGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTCATCTCAAGCTATCTGCCTGCCTCGGGCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGCAGTCTGCCTATACTTAATATTCTATTAAAATATTTCATATATACATTTTGATAATTCATTTCCTTTATTGATTATTATCCCTTTCCCCTGGTAGAGTGTGAGGCATGTAGACATGAATTTTTATCCATGACTTTTCTTTTG... |
Task1_train_30807 | This sequence change occurs on Chromosome X, altering COL4A5 (collagen type IV alpha 5 chain). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; X-linked Alport syndrome | GCAAGTACAGGCATGCACCACCATGCCTGGCTAATGTTTTTATTTTTTCTGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTCATCTCAAGCTATCTGCCTGCCTCGGGCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGCAGTCTGCCTATACTTAATATTCTATTAAAATATTTCATATATACATTTTGATAATTCATTTCCTTTATTGATTATTATCCCTTTCCCCTGGTAGAGTGTGAGGCATGTAGACATGAATTTTTATCCATGACTTTTCTTTTGCTCACCAATGTAACACAA... | GCAAGTACAGGCATGCACCACCATGCCTGGCTAATGTTTTTATTTTTTCTGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTCATCTCAAGCTATCTGCCTGCCTCGGGCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGCAGTCTGCCTATACTTAATATTCTATTAAAATATTTCATATATACATTTTGATAATTCATTTCCTTTATTGATTATTATCCCTTTCCCCTGGTAGAGTGTGAGGCATGTAGACATGAATTTTTATCCATGACTTTTCTTTTGCTCACCAATGTAACACAA... |
Task1_train_30808 | Mutation context: Chromosome X, Gene COL4A5 (collagen type IV alpha 5 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; X-linked Alport syndrome | CAAGTACAGGCATGCACCACCATGCCTGGCTAATGTTTTTATTTTTTCTGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTCATCTCAAGCTATCTGCCTGCCTCGGGCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGCAGTCTGCCTATACTTAATATTCTATTAAAATATTTCATATATACATTTTGATAATTCATTTCCTTTATTGATTATTATCCCTTTCCCCTGGTAGAGTGTGAGGCATGTAGACATGAATTTTTATCCATGACTTTTCTTTTGCTCACCAATGTAACACAAG... | CAAGTACAGGCATGCACCACCATGCCTGGCTAATGTTTTTATTTTTTCTGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTCATCTCAAGCTATCTGCCTGCCTCGGGCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGCAGTCTGCCTATACTTAATATTCTATTAAAATATTTCATATATACATTTTGATAATTCATTTCCTTTATTGATTATTATCCCTTTCCCCTGGTAGAGTGTGAGGCATGTAGACATGAATTTTTATCCATGACTTTTCTTTTGCTCACCAATGTAACACAAG... |
Task1_train_30809 | This mutation occurs in COL4A5 (collagen type IV alpha 5 chain) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | GGCATGCACCACCATGCCTGGCTAATGTTTTTATTTTTTCTGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTCATCTCAAGCTATCTGCCTGCCTCGGGCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGCAGTCTGCCTATACTTAATATTCTATTAAAATATTTCATATATACATTTTGATAATTCATTTCCTTTATTGATTATTATCCCTTTCCCCTGGTAGAGTGTGAGGCATGTAGACATGAATTTTTATCCATGACTTTTCTTTTGCTCACCAATGTAACACAAGCATCTGGA... | GGCATGCACCACCATGCCTGGCTAATGTTTTTATTTTTTCTGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTCATCTCAAGCTATCTGCCTGCCTCGGGCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGCAGTCTGCCTATACTTAATATTCTATTAAAATATTTCATATATACATTTTGATAATTCATTTCCTTTATTGATTATTATCCCTTTCCCCTGGTAGAGTGTGAGGCATGTAGACATGAATTTTTATCCATGACTTTTCTTTTGCTCACCAATGTAACACAAGCATCTGGA... |
Task1_train_30810 | With a mutation on Chromosome X in gene COL4A5 (collagen type IV alpha 5 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; X-linked Alport syndrome | TTGGCACACAGTAAGCACTCAGTAATTTATTTGTCATAAATTGATTCAGGATATAGGCTTCTCCAATCACACCATTAAGTGGAAATGCTGTCCCTTAGTGCTAACATTTTTAGAACCTATCTATAGAAGGTATATGTACCCCTTTCAGTAAAATTTGTTTGTTATTATGATTTCACTAGGTGACAAAGGTGACACTTGCTTCAACTGCATTGGAACTGGTATTTCAGGGCCTCCAGGTCAACCTGGTTTGCCAGGTCTCCCAGGTCCTCCAGGTAAATTATGCCTCAGGGTAACCTTCTAAATATTTTTTGGCTAGATTT... | TTGGCACACAGTAAGCACTCAGTAATTTATTTGTCATAAATTGATTCAGGATATAGGCTTCTCCAATCACACCATTAAGTGGAAATGCTGTCCCTTAGTGCTAACATTTTTAGAACCTATCTATAGAAGGTATATGTACCCCTTTCAGTAAAATTTGTTTGTTATTATGATTTCACTAGGTGACAAAGGTGACACTTGCTTCAACTGCATTGGAACTGGTATTTCAGGGCCTCCAGGTCAACCTGGTTTGCCAGGTCTCCCAGGTCCTCCAGGTAAATTATGCCTCAGGGTAACCTTCTAAATATTTTTTGGCTAGATTT... |
Task1_train_30811 | Chromosome X houses a mutation in gene COL4A5 (collagen type IV alpha 5 chain). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | TTCAGGATATAGGCTTCTCCAATCACACCATTAAGTGGAAATGCTGTCCCTTAGTGCTAACATTTTTAGAACCTATCTATAGAAGGTATATGTACCCCTTTCAGTAAAATTTGTTTGTTATTATGATTTCACTAGGTGACAAAGGTGACACTTGCTTCAACTGCATTGGAACTGGTATTTCAGGGCCTCCAGGTCAACCTGGTTTGCCAGGTCTCCCAGGTCCTCCAGGTAAATTATGCCTCAGGGTAACCTTCTAAATATTTTTTGGCTAGATTTTGTTGAGCTTATACTTTTAGAATGTTACCAGTTTCTCATTTTAT... | TTCAGGATATAGGCTTCTCCAATCACACCATTAAGTGGAAATGCTGTCCCTTAGTGCTAACATTTTTAGAACCTATCTATAGAAGGTATATGTACCCCTTTCAGTAAAATTTGTTTGTTATTATGATTTCACTAGGTGACAAAGGTGACACTTGCTTCAACTGCATTGGAACTGGTATTTCAGGGCCTCCAGGTCAACCTGGTTTGCCAGGTCTCCCAGGTCCTCCAGGTAAATTATGCCTCAGGGTAACCTTCTAAATATTTTTTGGCTAGATTTTGTTGAGCTTATACTTTTAGAATGTTACCAGTTTCTCATTTTAT... |
Task1_train_30812 | A genetic alteration is present in COL4A5 (collagen type IV alpha 5 chain) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; X-linked Alport syndrome | ATGCTGTCCCTTAGTGCTAACATTTTTAGAACCTATCTATAGAAGGTATATGTACCCCTTTCAGTAAAATTTGTTTGTTATTATGATTTCACTAGGTGACAAAGGTGACACTTGCTTCAACTGCATTGGAACTGGTATTTCAGGGCCTCCAGGTCAACCTGGTTTGCCAGGTCTCCCAGGTCCTCCAGGTAAATTATGCCTCAGGGTAACCTTCTAAATATTTTTTGGCTAGATTTTGTTGAGCTTATACTTTTAGAATGTTACCAGTTTCTCATTTTATAACTAGTCACTCATATCTATAAAGAATTAAGTATGAAATG... | ATGCTGTCCCTTAGTGCTAACATTTTTAGAACCTATCTATAGAAGGTATATGTACCCCTTTCAGTAAAATTTGTTTGTTATTATGATTTCACTAGGTGACAAAGGTGACACTTGCTTCAACTGCATTGGAACTGGTATTTCAGGGCCTCCAGGTCAACCTGGTTTGCCAGGTCTCCCAGGTCCTCCAGGTAAATTATGCCTCAGGGTAACCTTCTAAATATTTTTTGGCTAGATTTTGTTGAGCTTATACTTTTAGAATGTTACCAGTTTCTCATTTTATAACTAGTCACTCATATCTATAAAGAATTAAGTATGAAATG... |
Task1_train_30813 | This gene mutation involves COL4A5 (collagen type IV alpha 5 chain) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | AGTAAAATTTGTTTGTTATTATGATTTCACTAGGTGACAAAGGTGACACTTGCTTCAACTGCATTGGAACTGGTATTTCAGGGCCTCCAGGTCAACCTGGTTTGCCAGGTCTCCCAGGTCCTCCAGGTAAATTATGCCTCAGGGTAACCTTCTAAATATTTTTTGGCTAGATTTTGTTGAGCTTATACTTTTAGAATGTTACCAGTTTCTCATTTTATAACTAGTCACTCATATCTATAAAGAATTAAGTATGAAATGCCTCCATTTGTTATCAAATTAATTATGCTCTTGTTTCTAATACCTGAAGCTACCAATATATT... | AGTAAAATTTGTTTGTTATTATGATTTCACTAGGTGACAAAGGTGACACTTGCTTCAACTGCATTGGAACTGGTATTTCAGGGCCTCCAGGTCAACCTGGTTTGCCAGGTCTCCCAGGTCCTCCAGGTAAATTATGCCTCAGGGTAACCTTCTAAATATTTTTTGGCTAGATTTTGTTGAGCTTATACTTTTAGAATGTTACCAGTTTCTCATTTTATAACTAGTCACTCATATCTATAAAGAATTAAGTATGAAATGCCTCCATTTGTTATCAAATTAATTATGCTCTTGTTTCTAATACCTGAAGCTACCAATATATT... |
Task1_train_30814 | A mutation on Chromosome X affecting COL4A5 (collagen type IV alpha 5 chain) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; X-linked Alport syndrome | GGAACCCAGGAAACGTTGTGCATAGTATTTGGCAGTTGCAAGGTCTGAGAAAGTCTGCTTTGGAGTTGAAAGTTTCTTAGGATACAATATTGTATGTAACATGAAATGTTAAATTTATTTTTTAAAAAGGATGATTACCTCATTTTGTGAACATAAAAGGAAAATACAAATGTGACTTAAATGGGATTGAATGGGGTTCTTATTTTAAAAACTTGACTTTCTGACTTGATGATTTCTGTATGAGCTTTGTCAGGAGTTCAAGCTCAAAGCTTACGTTATTGTGTGTGTGTGTGTTTGTTTGTGTGTGTGTGTGTTAGGAT... | GGAACCCAGGAAACGTTGTGCATAGTATTTGGCAGTTGCAAGGTCTGAGAAAGTCTGCTTTGGAGTTGAAAGTTTCTTAGGATACAATATTGTATGTAACATGAAATGTTAAATTTATTTTTTAAAAAGGATGATTACCTCATTTTGTGAACATAAAAGGAAAATACAAATGTGACTTAAATGGGATTGAATGGGGTTCTTATTTTAAAAACTTGACTTTCTGACTTGATGATTTCTGTATGAGCTTTGTCAGGAGTTCAAGCTCAAAGCTTACGTTATTGTGTGTGTGTGTGTTTGTTTGTGTGTGTGTGTGTTAGGAT... |
Task1_train_30815 | This alteration occurs within gene COL4A5 (collagen type IV alpha 5 chain) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | GGAACCCAGGAAACGTTGTGCATAGTATTTGGCAGTTGCAAGGTCTGAGAAAGTCTGCTTTGGAGTTGAAAGTTTCTTAGGATACAATATTGTATGTAACATGAAATGTTAAATTTATTTTTTAAAAAGGATGATTACCTCATTTTGTGAACATAAAAGGAAAATACAAATGTGACTTAAATGGGATTGAATGGGGTTCTTATTTTAAAAACTTGACTTTCTGACTTGATGATTTCTGTATGAGCTTTGTCAGGAGTTCAAGCTCAAAGCTTACGTTATTGTGTGTGTGTGTGTTTGTTTGTGTGTGTGTGTGTTAGGAT... | GGAACCCAGGAAACGTTGTGCATAGTATTTGGCAGTTGCAAGGTCTGAGAAAGTCTGCTTTGGAGTTGAAAGTTTCTTAGGATACAATATTGTATGTAACATGAAATGTTAAATTTATTTTTTAAAAAGGATGATTACCTCATTTTGTGAACATAAAAGGAAAATACAAATGTGACTTAAATGGGATTGAATGGGGTTCTTATTTTAAAAACTTGACTTTCTGACTTGATGATTTCTGTATGAGCTTTGTCAGGAGTTCAAGCTCAAAGCTTACGTTATTGTGTGTGTGTGTGTTTGTTTGTGTGTGTGTGTGTTAGGAT... |
Task1_train_30816 | The gene COL4A5 (collagen type IV alpha 5 chain) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | GAACCCAGGAAACGTTGTGCATAGTATTTGGCAGTTGCAAGGTCTGAGAAAGTCTGCTTTGGAGTTGAAAGTTTCTTAGGATACAATATTGTATGTAACATGAAATGTTAAATTTATTTTTTAAAAAGGATGATTACCTCATTTTGTGAACATAAAAGGAAAATACAAATGTGACTTAAATGGGATTGAATGGGGTTCTTATTTTAAAAACTTGACTTTCTGACTTGATGATTTCTGTATGAGCTTTGTCAGGAGTTCAAGCTCAAAGCTTACGTTATTGTGTGTGTGTGTGTTTGTTTGTGTGTGTGTGTGTTAGGATC... | GAACCCAGGAAACGTTGTGCATAGTATTTGGCAGTTGCAAGGTCTGAGAAAGTCTGCTTTGGAGTTGAAAGTTTCTTAGGATACAATATTGTATGTAACATGAAATGTTAAATTTATTTTTTAAAAAGGATGATTACCTCATTTTGTGAACATAAAAGGAAAATACAAATGTGACTTAAATGGGATTGAATGGGGTTCTTATTTTAAAAACTTGACTTTCTGACTTGATGATTTCTGTATGAGCTTTGTCAGGAGTTCAAGCTCAAAGCTTACGTTATTGTGTGTGTGTGTGTTTGTTTGTGTGTGTGTGTGTTAGGATC... |
Task1_train_30817 | Located on Chromosome X, this mutation impacts COL4A5 (collagen type IV alpha 5 chain). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not provided | GAACCCAGGAAACGTTGTGCATAGTATTTGGCAGTTGCAAGGTCTGAGAAAGTCTGCTTTGGAGTTGAAAGTTTCTTAGGATACAATATTGTATGTAACATGAAATGTTAAATTTATTTTTTAAAAAGGATGATTACCTCATTTTGTGAACATAAAAGGAAAATACAAATGTGACTTAAATGGGATTGAATGGGGTTCTTATTTTAAAAACTTGACTTTCTGACTTGATGATTTCTGTATGAGCTTTGTCAGGAGTTCAAGCTCAAAGCTTACGTTATTGTGTGTGTGTGTGTTTGTTTGTGTGTGTGTGTGTTAGGATC... | GAACCCAGGAAACGTTGTGCATAGTATTTGGCAGTTGCAAGGTCTGAGAAAGTCTGCTTTGGAGTTGAAAGTTTCTTAGGATACAATATTGTATGTAACATGAAATGTTAAATTTATTTTTTAAAAAGGATGATTACCTCATTTTGTGAACATAAAAGGAAAATACAAATGTGACTTAAATGGGATTGAATGGGGTTCTTATTTTAAAAACTTGACTTTCTGACTTGATGATTTCTGTATGAGCTTTGTCAGGAGTTCAAGCTCAAAGCTTACGTTATTGTGTGTGTGTGTGTTTGTTTGTGTGTGTGTGTGTTAGGATC... |
Task1_train_30818 | Mutation context: Chromosome X, Gene COL4A5 (collagen type IV alpha 5 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; X-linked Alport syndrome | AAACGTTGTGCATAGTATTTGGCAGTTGCAAGGTCTGAGAAAGTCTGCTTTGGAGTTGAAAGTTTCTTAGGATACAATATTGTATGTAACATGAAATGTTAAATTTATTTTTTAAAAAGGATGATTACCTCATTTTGTGAACATAAAAGGAAAATACAAATGTGACTTAAATGGGATTGAATGGGGTTCTTATTTTAAAAACTTGACTTTCTGACTTGATGATTTCTGTATGAGCTTTGTCAGGAGTTCAAGCTCAAAGCTTACGTTATTGTGTGTGTGTGTGTTTGTTTGTGTGTGTGTGTGTTAGGATCTCTTGGTTT... | AAACGTTGTGCATAGTATTTGGCAGTTGCAAGGTCTGAGAAAGTCTGCTTTGGAGTTGAAAGTTTCTTAGGATACAATATTGTATGTAACATGAAATGTTAAATTTATTTTTTAAAAAGGATGATTACCTCATTTTGTGAACATAAAAGGAAAATACAAATGTGACTTAAATGGGATTGAATGGGGTTCTTATTTTAAAAACTTGACTTTCTGACTTGATGATTTCTGTATGAGCTTTGTCAGGAGTTCAAGCTCAAAGCTTACGTTATTGTGTGTGTGTGTGTTTGTTTGTGTGTGTGTGTGTTAGGATCTCTTGGTTT... |
Task1_train_30819 | Assess the clinical impact of this variant on gene COL4A5 (collagen type IV alpha 5 chain), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | TTTGGCAGTTGCAAGGTCTGAGAAAGTCTGCTTTGGAGTTGAAAGTTTCTTAGGATACAATATTGTATGTAACATGAAATGTTAAATTTATTTTTTAAAAAGGATGATTACCTCATTTTGTGAACATAAAAGGAAAATACAAATGTGACTTAAATGGGATTGAATGGGGTTCTTATTTTAAAAACTTGACTTTCTGACTTGATGATTTCTGTATGAGCTTTGTCAGGAGTTCAAGCTCAAAGCTTACGTTATTGTGTGTGTGTGTGTTTGTTTGTGTGTGTGTGTGTTAGGATCTCTTGGTTTCCCTGGACAGAAAGGGG... | TTTGGCAGTTGCAAGGTCTGAGAAAGTCTGCTTTGGAGTTGAAAGTTTCTTAGGATACAATATTGTATGTAACATGAAATGTTAAATTTATTTTTTAAAAAGGATGATTACCTCATTTTGTGAACATAAAAGGAAAATACAAATGTGACTTAAATGGGATTGAATGGGGTTCTTATTTTAAAAACTTGACTTTCTGACTTGATGATTTCTGTATGAGCTTTGTCAGGAGTTCAAGCTCAAAGCTTACGTTATTGTGTGTGTGTGTGTTTGTTTGTGTGTGTGTGTGTTAGGATCTCTTGGTTTCCCTGGACAGAAAGGGG... |
Task1_train_30820 | Located on Chromosome X, this mutation impacts COL4A5 (collagen type IV alpha 5 chain). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not provided | TTGGCAGTTGCAAGGTCTGAGAAAGTCTGCTTTGGAGTTGAAAGTTTCTTAGGATACAATATTGTATGTAACATGAAATGTTAAATTTATTTTTTAAAAAGGATGATTACCTCATTTTGTGAACATAAAAGGAAAATACAAATGTGACTTAAATGGGATTGAATGGGGTTCTTATTTTAAAAACTTGACTTTCTGACTTGATGATTTCTGTATGAGCTTTGTCAGGAGTTCAAGCTCAAAGCTTACGTTATTGTGTGTGTGTGTGTTTGTTTGTGTGTGTGTGTGTTAGGATCTCTTGGTTTCCCTGGACAGAAAGGGGA... | TTGGCAGTTGCAAGGTCTGAGAAAGTCTGCTTTGGAGTTGAAAGTTTCTTAGGATACAATATTGTATGTAACATGAAATGTTAAATTTATTTTTTAAAAAGGATGATTACCTCATTTTGTGAACATAAAAGGAAAATACAAATGTGACTTAAATGGGATTGAATGGGGTTCTTATTTTAAAAACTTGACTTTCTGACTTGATGATTTCTGTATGAGCTTTGTCAGGAGTTCAAGCTCAAAGCTTACGTTATTGTGTGTGTGTGTGTTTGTTTGTGTGTGTGTGTGTTAGGATCTCTTGGTTTCCCTGGACAGAAAGGGGA... |
Task1_train_30821 | The gene COL4A5 (collagen type IV alpha 5 chain), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | TGCAAGGTCTGAGAAAGTCTGCTTTGGAGTTGAAAGTTTCTTAGGATACAATATTGTATGTAACATGAAATGTTAAATTTATTTTTTAAAAAGGATGATTACCTCATTTTGTGAACATAAAAGGAAAATACAAATGTGACTTAAATGGGATTGAATGGGGTTCTTATTTTAAAAACTTGACTTTCTGACTTGATGATTTCTGTATGAGCTTTGTCAGGAGTTCAAGCTCAAAGCTTACGTTATTGTGTGTGTGTGTGTTTGTTTGTGTGTGTGTGTGTTAGGATCTCTTGGTTTCCCTGGACAGAAAGGGGAAAAAGGAC... | TGCAAGGTCTGAGAAAGTCTGCTTTGGAGTTGAAAGTTTCTTAGGATACAATATTGTATGTAACATGAAATGTTAAATTTATTTTTTAAAAAGGATGATTACCTCATTTTGTGAACATAAAAGGAAAATACAAATGTGACTTAAATGGGATTGAATGGGGTTCTTATTTTAAAAACTTGACTTTCTGACTTGATGATTTCTGTATGAGCTTTGTCAGGAGTTCAAGCTCAAAGCTTACGTTATTGTGTGTGTGTGTGTTTGTTTGTGTGTGTGTGTGTTAGGATCTCTTGGTTTCCCTGGACAGAAAGGGGAAAAAGGAC... |
Task1_train_30822 | Here is a mutation in COL4A5 (collagen type IV alpha 5 chain) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | GCAAGGTCTGAGAAAGTCTGCTTTGGAGTTGAAAGTTTCTTAGGATACAATATTGTATGTAACATGAAATGTTAAATTTATTTTTTAAAAAGGATGATTACCTCATTTTGTGAACATAAAAGGAAAATACAAATGTGACTTAAATGGGATTGAATGGGGTTCTTATTTTAAAAACTTGACTTTCTGACTTGATGATTTCTGTATGAGCTTTGTCAGGAGTTCAAGCTCAAAGCTTACGTTATTGTGTGTGTGTGTGTTTGTTTGTGTGTGTGTGTGTTAGGATCTCTTGGTTTCCCTGGACAGAAAGGGGAAAAAGGACA... | GCAAGGTCTGAGAAAGTCTGCTTTGGAGTTGAAAGTTTCTTAGGATACAATATTGTATGTAACATGAAATGTTAAATTTATTTTTTAAAAAGGATGATTACCTCATTTTGTGAACATAAAAGGAAAATACAAATGTGACTTAAATGGGATTGAATGGGGTTCTTATTTTAAAAACTTGACTTTCTGACTTGATGATTTCTGTATGAGCTTTGTCAGGAGTTCAAGCTCAAAGCTTACGTTATTGTGTGTGTGTGTGTTTGTTTGTGTGTGTGTGTGTTAGGATCTCTTGGTTTCCCTGGACAGAAAGGGGAAAAAGGACA... |
Task1_train_30823 | The gene COL4A5 (collagen type IV alpha 5 chain) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | CTGCTTTGGAGTTGAAAGTTTCTTAGGATACAATATTGTATGTAACATGAAATGTTAAATTTATTTTTTAAAAAGGATGATTACCTCATTTTGTGAACATAAAAGGAAAATACAAATGTGACTTAAATGGGATTGAATGGGGTTCTTATTTTAAAAACTTGACTTTCTGACTTGATGATTTCTGTATGAGCTTTGTCAGGAGTTCAAGCTCAAAGCTTACGTTATTGTGTGTGTGTGTGTTTGTTTGTGTGTGTGTGTGTTAGGATCTCTTGGTTTCCCTGGACAGAAAGGGGAAAAAGGACAAGCTGGTGCAACTGGTC... | CTGCTTTGGAGTTGAAAGTTTCTTAGGATACAATATTGTATGTAACATGAAATGTTAAATTTATTTTTTAAAAAGGATGATTACCTCATTTTGTGAACATAAAAGGAAAATACAAATGTGACTTAAATGGGATTGAATGGGGTTCTTATTTTAAAAACTTGACTTTCTGACTTGATGATTTCTGTATGAGCTTTGTCAGGAGTTCAAGCTCAAAGCTTACGTTATTGTGTGTGTGTGTGTTTGTTTGTGTGTGTGTGTGTTAGGATCTCTTGGTTTCCCTGGACAGAAAGGGGAAAAAGGACAAGCTGGTGCAACTGGTC... |
Task1_train_30824 | This gene mutation involves COL4A5 (collagen type IV alpha 5 chain) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | TGCTTTGGAGTTGAAAGTTTCTTAGGATACAATATTGTATGTAACATGAAATGTTAAATTTATTTTTTAAAAAGGATGATTACCTCATTTTGTGAACATAAAAGGAAAATACAAATGTGACTTAAATGGGATTGAATGGGGTTCTTATTTTAAAAACTTGACTTTCTGACTTGATGATTTCTGTATGAGCTTTGTCAGGAGTTCAAGCTCAAAGCTTACGTTATTGTGTGTGTGTGTGTTTGTTTGTGTGTGTGTGTGTTAGGATCTCTTGGTTTCCCTGGACAGAAAGGGGAAAAAGGACAAGCTGGTGCAACTGGTCC... | TGCTTTGGAGTTGAAAGTTTCTTAGGATACAATATTGTATGTAACATGAAATGTTAAATTTATTTTTTAAAAAGGATGATTACCTCATTTTGTGAACATAAAAGGAAAATACAAATGTGACTTAAATGGGATTGAATGGGGTTCTTATTTTAAAAACTTGACTTTCTGACTTGATGATTTCTGTATGAGCTTTGTCAGGAGTTCAAGCTCAAAGCTTACGTTATTGTGTGTGTGTGTGTTTGTTTGTGTGTGTGTGTGTTAGGATCTCTTGGTTTCCCTGGACAGAAAGGGGAAAAAGGACAAGCTGGTGCAACTGGTCC... |
Task1_train_30825 | The following genetic variant occurs in COL4A5 (collagen type IV alpha 5 chain) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | ATTGTATGTAACATGAAATGTTAAATTTATTTTTTAAAAAGGATGATTACCTCATTTTGTGAACATAAAAGGAAAATACAAATGTGACTTAAATGGGATTGAATGGGGTTCTTATTTTAAAAACTTGACTTTCTGACTTGATGATTTCTGTATGAGCTTTGTCAGGAGTTCAAGCTCAAAGCTTACGTTATTGTGTGTGTGTGTGTTTGTTTGTGTGTGTGTGTGTTAGGATCTCTTGGTTTCCCTGGACAGAAAGGGGAAAAAGGACAAGCTGGTGCAACTGGTCCCAAAGGATTACCAGTAAGTTTTGAGTATATTAT... | ATTGTATGTAACATGAAATGTTAAATTTATTTTTTAAAAAGGATGATTACCTCATTTTGTGAACATAAAAGGAAAATACAAATGTGACTTAAATGGGATTGAATGGGGTTCTTATTTTAAAAACTTGACTTTCTGACTTGATGATTTCTGTATGAGCTTTGTCAGGAGTTCAAGCTCAAAGCTTACGTTATTGTGTGTGTGTGTGTTTGTTTGTGTGTGTGTGTGTTAGGATCTCTTGGTTTCCCTGGACAGAAAGGGGAAAAAGGACAAGCTGGTGCAACTGGTCCCAAAGGATTACCAGTAAGTTTTGAGTATATTAT... |
Task1_train_30826 | Mutation context: Chromosome X, Gene COL4A5 (collagen type IV alpha 5 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; X-linked Alport syndrome | AACATGAAATGTTAAATTTATTTTTTAAAAAGGATGATTACCTCATTTTGTGAACATAAAAGGAAAATACAAATGTGACTTAAATGGGATTGAATGGGGTTCTTATTTTAAAAACTTGACTTTCTGACTTGATGATTTCTGTATGAGCTTTGTCAGGAGTTCAAGCTCAAAGCTTACGTTATTGTGTGTGTGTGTGTTTGTTTGTGTGTGTGTGTGTTAGGATCTCTTGGTTTCCCTGGACAGAAAGGGGAAAAAGGACAAGCTGGTGCAACTGGTCCCAAAGGATTACCAGTAAGTTTTGAGTATATTATAAAACAAAA... | AACATGAAATGTTAAATTTATTTTTTAAAAAGGATGATTACCTCATTTTGTGAACATAAAAGGAAAATACAAATGTGACTTAAATGGGATTGAATGGGGTTCTTATTTTAAAAACTTGACTTTCTGACTTGATGATTTCTGTATGAGCTTTGTCAGGAGTTCAAGCTCAAAGCTTACGTTATTGTGTGTGTGTGTGTTTGTTTGTGTGTGTGTGTGTTAGGATCTCTTGGTTTCCCTGGACAGAAAGGGGAAAAAGGACAAGCTGGTGCAACTGGTCCCAAAGGATTACCAGTAAGTTTTGAGTATATTATAAAACAAAA... |
Task1_train_30827 | Given this context: Chromosome X, gene COL4A5 (collagen type IV alpha 5 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; X-linked Alport syndrome | ATGTTAAATTTATTTTTTAAAAAGGATGATTACCTCATTTTGTGAACATAAAAGGAAAATACAAATGTGACTTAAATGGGATTGAATGGGGTTCTTATTTTAAAAACTTGACTTTCTGACTTGATGATTTCTGTATGAGCTTTGTCAGGAGTTCAAGCTCAAAGCTTACGTTATTGTGTGTGTGTGTGTTTGTTTGTGTGTGTGTGTGTTAGGATCTCTTGGTTTCCCTGGACAGAAAGGGGAAAAAGGACAAGCTGGTGCAACTGGTCCCAAAGGATTACCAGTAAGTTTTGAGTATATTATAAAACAAAAAGAAGTAG... | ATGTTAAATTTATTTTTTAAAAAGGATGATTACCTCATTTTGTGAACATAAAAGGAAAATACAAATGTGACTTAAATGGGATTGAATGGGGTTCTTATTTTAAAAACTTGACTTTCTGACTTGATGATTTCTGTATGAGCTTTGTCAGGAGTTCAAGCTCAAAGCTTACGTTATTGTGTGTGTGTGTGTTTGTTTGTGTGTGTGTGTGTTAGGATCTCTTGGTTTCCCTGGACAGAAAGGGGAAAAAGGACAAGCTGGTGCAACTGGTCCCAAAGGATTACCAGTAAGTTTTGAGTATATTATAAAACAAAAAGAAGTAG... |
Task1_train_30828 | Given this variant in gene COL4A5 (collagen type IV alpha 5 chain) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | AAAAGGATGATTACCTCATTTTGTGAACATAAAAGGAAAATACAAATGTGACTTAAATGGGATTGAATGGGGTTCTTATTTTAAAAACTTGACTTTCTGACTTGATGATTTCTGTATGAGCTTTGTCAGGAGTTCAAGCTCAAAGCTTACGTTATTGTGTGTGTGTGTGTTTGTTTGTGTGTGTGTGTGTTAGGATCTCTTGGTTTCCCTGGACAGAAAGGGGAAAAAGGACAAGCTGGTGCAACTGGTCCCAAAGGATTACCAGTAAGTTTTGAGTATATTATAAAACAAAAAGAAGTAGAAGGAAGGCATTTTACACA... | AAAAGGATGATTACCTCATTTTGTGAACATAAAAGGAAAATACAAATGTGACTTAAATGGGATTGAATGGGGTTCTTATTTTAAAAACTTGACTTTCTGACTTGATGATTTCTGTATGAGCTTTGTCAGGAGTTCAAGCTCAAAGCTTACGTTATTGTGTGTGTGTGTGTTTGTTTGTGTGTGTGTGTGTTAGGATCTCTTGGTTTCCCTGGACAGAAAGGGGAAAAAGGACAAGCTGGTGCAACTGGTCCCAAAGGATTACCAGTAAGTTTTGAGTATATTATAAAACAAAAAGAAGTAGAAGGAAGGCATTTTACACA... |
Task1_train_30829 | Here’s a variant in COL4A5 (collagen type IV alpha 5 chain) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | ATTACCTCATTTTGTGAACATAAAAGGAAAATACAAATGTGACTTAAATGGGATTGAATGGGGTTCTTATTTTAAAAACTTGACTTTCTGACTTGATGATTTCTGTATGAGCTTTGTCAGGAGTTCAAGCTCAAAGCTTACGTTATTGTGTGTGTGTGTGTTTGTTTGTGTGTGTGTGTGTTAGGATCTCTTGGTTTCCCTGGACAGAAAGGGGAAAAAGGACAAGCTGGTGCAACTGGTCCCAAAGGATTACCAGTAAGTTTTGAGTATATTATAAAACAAAAAGAAGTAGAAGGAAGGCATTTTACACATTGATTTTC... | ATTACCTCATTTTGTGAACATAAAAGGAAAATACAAATGTGACTTAAATGGGATTGAATGGGGTTCTTATTTTAAAAACTTGACTTTCTGACTTGATGATTTCTGTATGAGCTTTGTCAGGAGTTCAAGCTCAAAGCTTACGTTATTGTGTGTGTGTGTGTTTGTTTGTGTGTGTGTGTGTTAGGATCTCTTGGTTTCCCTGGACAGAAAGGGGAAAAAGGACAAGCTGGTGCAACTGGTCCCAAAGGATTACCAGTAAGTTTTGAGTATATTATAAAACAAAAAGAAGTAGAAGGAAGGCATTTTACACATTGATTTTC... |
Task1_train_30830 | The variant affects gene COL4A5 (collagen type IV alpha 5 chain), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | ATTTTGTGAACATAAAAGGAAAATACAAATGTGACTTAAATGGGATTGAATGGGGTTCTTATTTTAAAAACTTGACTTTCTGACTTGATGATTTCTGTATGAGCTTTGTCAGGAGTTCAAGCTCAAAGCTTACGTTATTGTGTGTGTGTGTGTTTGTTTGTGTGTGTGTGTGTTAGGATCTCTTGGTTTCCCTGGACAGAAAGGGGAAAAAGGACAAGCTGGTGCAACTGGTCCCAAAGGATTACCAGTAAGTTTTGAGTATATTATAAAACAAAAAGAAGTAGAAGGAAGGCATTTTACACATTGATTTTCAATTATTC... | ATTTTGTGAACATAAAAGGAAAATACAAATGTGACTTAAATGGGATTGAATGGGGTTCTTATTTTAAAAACTTGACTTTCTGACTTGATGATTTCTGTATGAGCTTTGTCAGGAGTTCAAGCTCAAAGCTTACGTTATTGTGTGTGTGTGTGTTTGTTTGTGTGTGTGTGTGTTAGGATCTCTTGGTTTCCCTGGACAGAAAGGGGAAAAAGGACAAGCTGGTGCAACTGGTCCCAAAGGATTACCAGTAAGTTTTGAGTATATTATAAAACAAAAAGAAGTAGAAGGAAGGCATTTTACACATTGATTTTCAATTATTC... |
Task1_train_30831 | Given this context: Chromosome X, gene COL4A5 (collagen type IV alpha 5 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | ATGTTAAAGGAATCATAGGGTAAGTGTTTTTTATATTAACTTTTCGTGTGGCTATAGTGTATTCATTTTTATTGCTATATAGTATTTCATTGTATGTATGTTTATGTGTGTGTGTGTGTGTGTGTTACAGTTGATTGATCCATTCTATGGTTAATGGTTAATTGGGTTATTTACAGTTCAGGTCTATTATGAATAATGCTTCTGTTTACAGTCATATAGATAGATAGCTAGGTAGATAGATAGATCCCTATATCTCCTTGTGTTCATGTGCTCACACTTCTCTAGGGCAAGAGTTGGCACACTACAGAACTACAGTCCAT... | ATGTTAAAGGAATCATAGGGTAAGTGTTTTTTATATTAACTTTTCGTGTGGCTATAGTGTATTCATTTTTATTGCTATATAGTATTTCATTGTATGTATGTTTATGTGTGTGTGTGTGTGTGTGTTACAGTTGATTGATCCATTCTATGGTTAATGGTTAATTGGGTTATTTACAGTTCAGGTCTATTATGAATAATGCTTCTGTTTACAGTCATATAGATAGATAGCTAGGTAGATAGATAGATCCCTATATCTCCTTGTGTTCATGTGCTCACACTTCTCTAGGGCAAGAGTTGGCACACTACAGAACTACAGTCCAT... |
Task1_train_30832 | A variant on Chromosome X in gene COL4A5 (collagen type IV alpha 5 chain) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | GTGGCTATAGTGTATTCATTTTTATTGCTATATAGTATTTCATTGTATGTATGTTTATGTGTGTGTGTGTGTGTGTGTTACAGTTGATTGATCCATTCTATGGTTAATGGTTAATTGGGTTATTTACAGTTCAGGTCTATTATGAATAATGCTTCTGTTTACAGTCATATAGATAGATAGCTAGGTAGATAGATAGATCCCTATATCTCCTTGTGTTCATGTGCTCACACTTCTCTAGGGCAAGAGTTGGCACACTACAGAACTACAGTCCATGGACCACATCCAGCCTACCACCTGTTATAAATAAAAGTTTTATGTGA... | GTGGCTATAGTGTATTCATTTTTATTGCTATATAGTATTTCATTGTATGTATGTTTATGTGTGTGTGTGTGTGTGTGTTACAGTTGATTGATCCATTCTATGGTTAATGGTTAATTGGGTTATTTACAGTTCAGGTCTATTATGAATAATGCTTCTGTTTACAGTCATATAGATAGATAGCTAGGTAGATAGATAGATCCCTATATCTCCTTGTGTTCATGTGCTCACACTTCTCTAGGGCAAGAGTTGGCACACTACAGAACTACAGTCCATGGACCACATCCAGCCTACCACCTGTTATAAATAAAAGTTTTATGTGA... |
Task1_train_30833 | Gene COL4A5 (collagen type IV alpha 5 chain) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | ATTTCATTGTATGTATGTTTATGTGTGTGTGTGTGTGTGTGTTACAGTTGATTGATCCATTCTATGGTTAATGGTTAATTGGGTTATTTACAGTTCAGGTCTATTATGAATAATGCTTCTGTTTACAGTCATATAGATAGATAGCTAGGTAGATAGATAGATCCCTATATCTCCTTGTGTTCATGTGCTCACACTTCTCTAGGGCAAGAGTTGGCACACTACAGAACTACAGTCCATGGACCACATCCAGCCTACCACCTGTTATAAATAAAAGTTTTATGTGAACACTTCCACAACCATTCACTTTTGTCTGTGGTTGT... | ATTTCATTGTATGTATGTTTATGTGTGTGTGTGTGTGTGTGTTACAGTTGATTGATCCATTCTATGGTTAATGGTTAATTGGGTTATTTACAGTTCAGGTCTATTATGAATAATGCTTCTGTTTACAGTCATATAGATAGATAGCTAGGTAGATAGATAGATCCCTATATCTCCTTGTGTTCATGTGCTCACACTTCTCTAGGGCAAGAGTTGGCACACTACAGAACTACAGTCCATGGACCACATCCAGCCTACCACCTGTTATAAATAAAAGTTTTATGTGAACACTTCCACAACCATTCACTTTTGTCTGTGGTTGT... |
Task1_train_30834 | This mutation is located in gene COL4A5 (collagen type IV alpha 5 chain) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | TTTACACAAAAGGCTTACCAATACCTGGGCTAGGGTATGTATTTAAGATTAGCATTTTCAAAGCATAGGATAAGTGCATCTTCCACTTGACTGGATAATTACAAACTCTATCCAGACCAATTGTACCAATTTTTACTACCACAAGCAGTGTTGAATATTTTATGTTGATTTACATCCTTGGAAACAATTTGTATTGTCGGACTTTTACACTTTTGCCAATCTGTTGAGTGTGATATTTTGCATTTCTCTGATTAAAGTTTAGCACCTTTTCATGTGTTTATTGGTCATTTGAATTTGCTTTTGTGAAATGCCTAATCAAG... | TTTACACAAAAGGCTTACCAATACCTGGGCTAGGGTATGTATTTAAGATTAGCATTTTCAAAGCATAGGATAAGTGCATCTTCCACTTGACTGGATAATTACAAACTCTATCCAGACCAATTGTACCAATTTTTACTACCACAAGCAGTGTTGAATATTTTATGTTGATTTACATCCTTGGAAACAATTTGTATTGTCGGACTTTTACACTTTTGCCAATCTGTTGAGTGTGATATTTTGCATTTCTCTGATTAAAGTTTAGCACCTTTTCATGTGTTTATTGGTCATTTGAATTTGCTTTTGTGAAATGCCTAATCAAG... |
Task1_train_30835 | This gene mutation involves COL4A5 (collagen type IV alpha 5 chain) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | TATGTATTTAAGATTAGCATTTTCAAAGCATAGGATAAGTGCATCTTCCACTTGACTGGATAATTACAAACTCTATCCAGACCAATTGTACCAATTTTTACTACCACAAGCAGTGTTGAATATTTTATGTTGATTTACATCCTTGGAAACAATTTGTATTGTCGGACTTTTACACTTTTGCCAATCTGTTGAGTGTGATATTTTGCATTTCTCTGATTAAAGTTTAGCACCTTTTCATGTGTTTATTGGTCATTTGAATTTGCTTTTGTGAAATGCCTAATCAAGTACTTTGACCAATTTTATATTGGATTATTTCTTTT... | TATGTATTTAAGATTAGCATTTTCAAAGCATAGGATAAGTGCATCTTCCACTTGACTGGATAATTACAAACTCTATCCAGACCAATTGTACCAATTTTTACTACCACAAGCAGTGTTGAATATTTTATGTTGATTTACATCCTTGGAAACAATTTGTATTGTCGGACTTTTACACTTTTGCCAATCTGTTGAGTGTGATATTTTGCATTTCTCTGATTAAAGTTTAGCACCTTTTCATGTGTTTATTGGTCATTTGAATTTGCTTTTGTGAAATGCCTAATCAAGTACTTTGACCAATTTTATATTGGATTATTTCTTTT... |
Task1_train_30836 | The gene COL4A5 (collagen type IV alpha 5 chain) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | ATGTATTTAAGATTAGCATTTTCAAAGCATAGGATAAGTGCATCTTCCACTTGACTGGATAATTACAAACTCTATCCAGACCAATTGTACCAATTTTTACTACCACAAGCAGTGTTGAATATTTTATGTTGATTTACATCCTTGGAAACAATTTGTATTGTCGGACTTTTACACTTTTGCCAATCTGTTGAGTGTGATATTTTGCATTTCTCTGATTAAAGTTTAGCACCTTTTCATGTGTTTATTGGTCATTTGAATTTGCTTTTGTGAAATGCCTAATCAAGTACTTTGACCAATTTTATATTGGATTATTTCTTTTT... | ATGTATTTAAGATTAGCATTTTCAAAGCATAGGATAAGTGCATCTTCCACTTGACTGGATAATTACAAACTCTATCCAGACCAATTGTACCAATTTTTACTACCACAAGCAGTGTTGAATATTTTATGTTGATTTACATCCTTGGAAACAATTTGTATTGTCGGACTTTTACACTTTTGCCAATCTGTTGAGTGTGATATTTTGCATTTCTCTGATTAAAGTTTAGCACCTTTTCATGTGTTTATTGGTCATTTGAATTTGCTTTTGTGAAATGCCTAATCAAGTACTTTGACCAATTTTATATTGGATTATTTCTTTTT... |
Task1_train_30837 | Located on Chromosome X, this mutation impacts COL4A5 (collagen type IV alpha 5 chain). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; X-linked Alport syndrome | AGATTAGCATTTTCAAAGCATAGGATAAGTGCATCTTCCACTTGACTGGATAATTACAAACTCTATCCAGACCAATTGTACCAATTTTTACTACCACAAGCAGTGTTGAATATTTTATGTTGATTTACATCCTTGGAAACAATTTGTATTGTCGGACTTTTACACTTTTGCCAATCTGTTGAGTGTGATATTTTGCATTTCTCTGATTAAAGTTTAGCACCTTTTCATGTGTTTATTGGTCATTTGAATTTGCTTTTGTGAAATGCCTAATCAAGTACTTTGACCAATTTTATATTGGATTATTTCTTTTTTTATTGATT... | AGATTAGCATTTTCAAAGCATAGGATAAGTGCATCTTCCACTTGACTGGATAATTACAAACTCTATCCAGACCAATTGTACCAATTTTTACTACCACAAGCAGTGTTGAATATTTTATGTTGATTTACATCCTTGGAAACAATTTGTATTGTCGGACTTTTACACTTTTGCCAATCTGTTGAGTGTGATATTTTGCATTTCTCTGATTAAAGTTTAGCACCTTTTCATGTGTTTATTGGTCATTTGAATTTGCTTTTGTGAAATGCCTAATCAAGTACTTTGACCAATTTTATATTGGATTATTTCTTTTTTTATTGATT... |
Task1_train_30838 | Gene COL4A5 (collagen type IV alpha 5 chain) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; X-linked Alport syndrome | ACTCTATCCAGACCAATTGTACCAATTTTTACTACCACAAGCAGTGTTGAATATTTTATGTTGATTTACATCCTTGGAAACAATTTGTATTGTCGGACTTTTACACTTTTGCCAATCTGTTGAGTGTGATATTTTGCATTTCTCTGATTAAAGTTTAGCACCTTTTCATGTGTTTATTGGTCATTTGAATTTGCTTTTGTGAAATGCCTAATCAAGTACTTTGACCAATTTTATATTGGATTATTTCTTTTTTTATTGATTTAGAGGAGTTCTTTATATATTCTGTGCATTAGTTCTTAGTTACCTATGTATTTTGCGAA... | ACTCTATCCAGACCAATTGTACCAATTTTTACTACCACAAGCAGTGTTGAATATTTTATGTTGATTTACATCCTTGGAAACAATTTGTATTGTCGGACTTTTACACTTTTGCCAATCTGTTGAGTGTGATATTTTGCATTTCTCTGATTAAAGTTTAGCACCTTTTCATGTGTTTATTGGTCATTTGAATTTGCTTTTGTGAAATGCCTAATCAAGTACTTTGACCAATTTTATATTGGATTATTTCTTTTTTTATTGATTTAGAGGAGTTCTTTATATATTCTGTGCATTAGTTCTTAGTTACCTATGTATTTTGCGAA... |
Task1_train_30839 | This variant impacts the gene COL4A5 (collagen type IV alpha 5 chain) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; X-linked Alport syndrome | GAGAATTCACCTTTTTTTCTGCCTTTTTGTTGTATCCGGTCCCTCAGCTGATTGGATGGTACCCACACACATTGGGTGAGGGTGGATCATCCTTATTCGTTTCACTGATTCAAATGTCAGTTTCTTTCGGAAACAGCCTCACAGACATATCTAGAAATAATGCTTTACCAGCGATCTCAGTATCTCTTAATCTAGTCATGTTGAAACCTAAAATTAACCATTATACATCTTGAATCATGGAAGTCCTTAAGGCTGTCATATCCTTTTTCTTTTTGAAATTCTATCCTTCTGTTTTATATATTTCTTGAATATATAGTGGA... | GAGAATTCACCTTTTTTTCTGCCTTTTTGTTGTATCCGGTCCCTCAGCTGATTGGATGGTACCCACACACATTGGGTGAGGGTGGATCATCCTTATTCGTTTCACTGATTCAAATGTCAGTTTCTTTCGGAAACAGCCTCACAGACATATCTAGAAATAATGCTTTACCAGCGATCTCAGTATCTCTTAATCTAGTCATGTTGAAACCTAAAATTAACCATTATACATCTTGAATCATGGAAGTCCTTAAGGCTGTCATATCCTTTTTCTTTTTGAAATTCTATCCTTCTGTTTTATATATTTCTTGAATATATAGTGGA... |
Task1_train_30840 | The gene COL4A5 (collagen type IV alpha 5 chain) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; X-linked Alport syndrome | AGCTGATTGGATGGTACCCACACACATTGGGTGAGGGTGGATCATCCTTATTCGTTTCACTGATTCAAATGTCAGTTTCTTTCGGAAACAGCCTCACAGACATATCTAGAAATAATGCTTTACCAGCGATCTCAGTATCTCTTAATCTAGTCATGTTGAAACCTAAAATTAACCATTATACATCTTGAATCATGGAAGTCCTTAAGGCTGTCATATCCTTTTTCTTTTTGAAATTCTATCCTTCTGTTTTATATATTTCTTGAATATATAGTGGAAGATTGTTTTTCTTGTGAATTTTTGTTAGTTTACATTTTCAAAAG... | AGCTGATTGGATGGTACCCACACACATTGGGTGAGGGTGGATCATCCTTATTCGTTTCACTGATTCAAATGTCAGTTTCTTTCGGAAACAGCCTCACAGACATATCTAGAAATAATGCTTTACCAGCGATCTCAGTATCTCTTAATCTAGTCATGTTGAAACCTAAAATTAACCATTATACATCTTGAATCATGGAAGTCCTTAAGGCTGTCATATCCTTTTTCTTTTTGAAATTCTATCCTTCTGTTTTATATATTTCTTGAATATATAGTGGAAGATTGTTTTTCTTGTGAATTTTTGTTAGTTTACATTTTCAAAAG... |
Task1_train_30841 | This sequence change occurs on Chromosome X, altering COL4A5 (collagen type IV alpha 5 chain). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | CACACACATTGGGTGAGGGTGGATCATCCTTATTCGTTTCACTGATTCAAATGTCAGTTTCTTTCGGAAACAGCCTCACAGACATATCTAGAAATAATGCTTTACCAGCGATCTCAGTATCTCTTAATCTAGTCATGTTGAAACCTAAAATTAACCATTATACATCTTGAATCATGGAAGTCCTTAAGGCTGTCATATCCTTTTTCTTTTTGAAATTCTATCCTTCTGTTTTATATATTTCTTGAATATATAGTGGAAGATTGTTTTTCTTGTGAATTTTTGTTAGTTTACATTTTCAAAAGATTGCTGATAATTTTCTT... | CACACACATTGGGTGAGGGTGGATCATCCTTATTCGTTTCACTGATTCAAATGTCAGTTTCTTTCGGAAACAGCCTCACAGACATATCTAGAAATAATGCTTTACCAGCGATCTCAGTATCTCTTAATCTAGTCATGTTGAAACCTAAAATTAACCATTATACATCTTGAATCATGGAAGTCCTTAAGGCTGTCATATCCTTTTTCTTTTTGAAATTCTATCCTTCTGTTTTATATATTTCTTGAATATATAGTGGAAGATTGTTTTTCTTGTGAATTTTTGTTAGTTTACATTTTCAAAAGATTGCTGATAATTTTCTT... |
Task1_train_30842 | Here is a genetic alteration in COL4A5 (collagen type IV alpha 5 chain) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; X-linked Alport syndrome | TTCTCTAGCTATGAAAGTCCTATGAGCATTTTATTCCAATAGAAGGCTGTTTCATCAACATGGAAAATCTGTTGTTTAGTGTAGTCACTTTCATCAATGATCTTAGCTAGAACTTGCTGCAGCTTCTATATCAAAACTTGCTGCTTCACCTTGCACTTTTATGATGTGGAGACAGCTTCTTCCCTTAAACCTCACGAACCAGCTTCTGCTAGCTTCCAACTTTTCTTCTGCAGCTTCTTCACCTCTCAGTCTTCAGATAATTGAAGTTAGGGCCTTGCTCTGGATTAGGTTTTTGCTTAAGGGAATGTTATGGCTGGTTT... | TTCTCTAGCTATGAAAGTCCTATGAGCATTTTATTCCAATAGAAGGCTGTTTCATCAACATGGAAAATCTGTTGTTTAGTGTAGTCACTTTCATCAATGATCTTAGCTAGAACTTGCTGCAGCTTCTATATCAAAACTTGCTGCTTCACCTTGCACTTTTATGATGTGGAGACAGCTTCTTCCCTTAAACCTCACGAACCAGCTTCTGCTAGCTTCCAACTTTTCTTCTGCAGCTTCTTCACCTCTCAGTCTTCAGATAATTGAAGTTAGGGCCTTGCTCTGGATTAGGTTTTTGCTTAAGGGAATGTTATGGCTGGTTT... |
Task1_train_30843 | This variant affects the gene COL4A5 (collagen type IV alpha 5 chain) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; X-linked Alport syndrome | TGTTGTTTAGTGTAGTCACTTTCATCAATGATCTTAGCTAGAACTTGCTGCAGCTTCTATATCAAAACTTGCTGCTTCACCTTGCACTTTTATGATGTGGAGACAGCTTCTTCCCTTAAACCTCACGAACCAGCTTCTGCTAGCTTCCAACTTTTCTTCTGCAGCTTCTTCACCTCTCAGTCTTCAGATAATTGAAGTTAGGGCCTTGCTCTGGATTAGGTTTTTGCTTAAGGGAATGTTATGGCTGGTTTGATCTTCTGTCCAGATCACTCAAACTTTCTCCATATCAGCAATAGGGCTGTTTTACTTTCTTCTCATTC... | TGTTGTTTAGTGTAGTCACTTTCATCAATGATCTTAGCTAGAACTTGCTGCAGCTTCTATATCAAAACTTGCTGCTTCACCTTGCACTTTTATGATGTGGAGACAGCTTCTTCCCTTAAACCTCACGAACCAGCTTCTGCTAGCTTCCAACTTTTCTTCTGCAGCTTCTTCACCTCTCAGTCTTCAGATAATTGAAGTTAGGGCCTTGCTCTGGATTAGGTTTTTGCTTAAGGGAATGTTATGGCTGGTTTGATCTTCTGTCCAGATCACTCAAACTTTCTCCATATCAGCAATAGGGCTGTTTTACTTTCTTCTCATTC... |
Task1_train_30844 | This variant lies on Chromosome X and affects the gene COL4A5 (collagen type IV alpha 5 chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; X-linked Alport syndrome | TTTCATCAATGATCTTAGCTAGAACTTGCTGCAGCTTCTATATCAAAACTTGCTGCTTCACCTTGCACTTTTATGATGTGGAGACAGCTTCTTCCCTTAAACCTCACGAACCAGCTTCTGCTAGCTTCCAACTTTTCTTCTGCAGCTTCTTCACCTCTCAGTCTTCAGATAATTGAAGTTAGGGCCTTGCTCTGGATTAGGTTTTTGCTTAAGGGAATGTTATGGCTGGTTTGATCTTCTGTCCAGATCACTCAAACTTTCTCCATATCAGCAATAGGGCTGTTTTACTTTCTTCTCATTCGTGTGTTCACTGGAGTAGC... | TTTCATCAATGATCTTAGCTAGAACTTGCTGCAGCTTCTATATCAAAACTTGCTGCTTCACCTTGCACTTTTATGATGTGGAGACAGCTTCTTCCCTTAAACCTCACGAACCAGCTTCTGCTAGCTTCCAACTTTTCTTCTGCAGCTTCTTCACCTCTCAGTCTTCAGATAATTGAAGTTAGGGCCTTGCTCTGGATTAGGTTTTTGCTTAAGGGAATGTTATGGCTGGTTTGATCTTCTGTCCAGATCACTCAAACTTTCTCCATATCAGCAATAGGGCTGTTTTACTTTCTTCTCATTCGTGTGTTCACTGGAGTAGC... |
Task1_train_30845 | A change on Chromosome X affects gene COL4A5 (collagen type IV alpha 5 chain). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; X-linked Alport syndrome | TGCTGCAGCTTCTATATCAAAACTTGCTGCTTCACCTTGCACTTTTATGATGTGGAGACAGCTTCTTCCCTTAAACCTCACGAACCAGCTTCTGCTAGCTTCCAACTTTTCTTCTGCAGCTTCTTCACCTCTCAGTCTTCAGATAATTGAAGTTAGGGCCTTGCTCTGGATTAGGTTTTTGCTTAAGGGAATGTTATGGCTGGTTTGATCTTCTGTCCAGATCACTCAAACTTTCTCCATATCAGCAATAGGGCTGTTTTACTTTCTTCTCATTCGTGTGTTCACTGGAGTAGCACTTTTAATTTCCTTAAATAACTTTT... | TGCTGCAGCTTCTATATCAAAACTTGCTGCTTCACCTTGCACTTTTATGATGTGGAGACAGCTTCTTCCCTTAAACCTCACGAACCAGCTTCTGCTAGCTTCCAACTTTTCTTCTGCAGCTTCTTCACCTCTCAGTCTTCAGATAATTGAAGTTAGGGCCTTGCTCTGGATTAGGTTTTTGCTTAAGGGAATGTTATGGCTGGTTTGATCTTCTGTCCAGATCACTCAAACTTTCTCCATATCAGCAATAGGGCTGTTTTACTTTCTTCTCATTCGTGTGTTCACTGGAGTAGCACTTTTAATTTCCTTAAATAACTTTT... |
Task1_train_30846 | This sequence variant lies in COL4A5 (collagen type IV alpha 5 chain) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | TGCTTCACCTTGCACTTTTATGATGTGGAGACAGCTTCTTCCCTTAAACCTCACGAACCAGCTTCTGCTAGCTTCCAACTTTTCTTCTGCAGCTTCTTCACCTCTCAGTCTTCAGATAATTGAAGTTAGGGCCTTGCTCTGGATTAGGTTTTTGCTTAAGGGAATGTTATGGCTGGTTTGATCTTCTGTCCAGATCACTCAAACTTTCTCCATATCAGCAATAGGGCTGTTTTACTTTCTTCTCATTCGTGTGTTCACTGGAGTAGCACTTTTAATTTCCTTAAATAACTTTTCCTTCACATTCACAACTTGGCTAACTG... | TGCTTCACCTTGCACTTTTATGATGTGGAGACAGCTTCTTCCCTTAAACCTCACGAACCAGCTTCTGCTAGCTTCCAACTTTTCTTCTGCAGCTTCTTCACCTCTCAGTCTTCAGATAATTGAAGTTAGGGCCTTGCTCTGGATTAGGTTTTTGCTTAAGGGAATGTTATGGCTGGTTTGATCTTCTGTCCAGATCACTCAAACTTTCTCCATATCAGCAATAGGGCTGTTTTACTTTCTTCTCATTCGTGTGTTCACTGGAGTAGCACTTTTAATTTCCTTAAATAACTTTTCCTTCACATTCACAACTTGGCTAACTG... |
Task1_train_30847 | A change on Chromosome X affects gene COL4A5 (collagen type IV alpha 5 chain). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not provided | TGCTTCACCTTGCACTTTTATGATGTGGAGACAGCTTCTTCCCTTAAACCTCACGAACCAGCTTCTGCTAGCTTCCAACTTTTCTTCTGCAGCTTCTTCACCTCTCAGTCTTCAGATAATTGAAGTTAGGGCCTTGCTCTGGATTAGGTTTTTGCTTAAGGGAATGTTATGGCTGGTTTGATCTTCTGTCCAGATCACTCAAACTTTCTCCATATCAGCAATAGGGCTGTTTTACTTTCTTCTCATTCGTGTGTTCACTGGAGTAGCACTTTTAATTTCCTTAAATAACTTTTCCTTCACATTCACAACTTGGCTAACTG... | TGCTTCACCTTGCACTTTTATGATGTGGAGACAGCTTCTTCCCTTAAACCTCACGAACCAGCTTCTGCTAGCTTCCAACTTTTCTTCTGCAGCTTCTTCACCTCTCAGTCTTCAGATAATTGAAGTTAGGGCCTTGCTCTGGATTAGGTTTTTGCTTAAGGGAATGTTATGGCTGGTTTGATCTTCTGTCCAGATCACTCAAACTTTCTCCATATCAGCAATAGGGCTGTTTTACTTTCTTCTCATTCGTGTGTTCACTGGAGTAGCACTTTTAATTTCCTTAAATAACTTTTCCTTCACATTCACAACTTGGCTAACTG... |
Task1_train_30848 | This sequence change occurs on Chromosome X, altering COL4A5 (collagen type IV alpha 5 chain). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Nephrotic syndrome | GCTTCACCTTGCACTTTTATGATGTGGAGACAGCTTCTTCCCTTAAACCTCACGAACCAGCTTCTGCTAGCTTCCAACTTTTCTTCTGCAGCTTCTTCACCTCTCAGTCTTCAGATAATTGAAGTTAGGGCCTTGCTCTGGATTAGGTTTTTGCTTAAGGGAATGTTATGGCTGGTTTGATCTTCTGTCCAGATCACTCAAACTTTCTCCATATCAGCAATAGGGCTGTTTTACTTTCTTCTCATTCGTGTGTTCACTGGAGTAGCACTTTTAATTTCCTTAAATAACTTTTCCTTCACATTCACAACTTGGCTAACTGT... | GCTTCACCTTGCACTTTTATGATGTGGAGACAGCTTCTTCCCTTAAACCTCACGAACCAGCTTCTGCTAGCTTCCAACTTTTCTTCTGCAGCTTCTTCACCTCTCAGTCTTCAGATAATTGAAGTTAGGGCCTTGCTCTGGATTAGGTTTTTGCTTAAGGGAATGTTATGGCTGGTTTGATCTTCTGTCCAGATCACTCAAACTTTCTCCATATCAGCAATAGGGCTGTTTTACTTTCTTCTCATTCGTGTGTTCACTGGAGTAGCACTTTTAATTTCCTTAAATAACTTTTCCTTCACATTCACAACTTGGCTAACTGT... |
Task1_train_30849 | A genetic alteration is present in COL4A5 (collagen type IV alpha 5 chain) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | TAGTGTGGTATGTGTGAAATACAGACTAATAGATCATTGTAACATAATAGAGAGTCTAGAAATACACCCACATATTTAATTTTTGACAAAGTTGCTAAGGCAATCTCAACAGAAAGGTAAGTCTTTTCAACAAATGTTGCTAAAATATAAAGCAATTGGACATCCATATGCAAAAAAAAATATAAACAAACCAACATAACAAACCTCTACCTGCACTTCCTACCTTGCACAAAATTTAACTCCCAATGGATCACAGACCTAAATGTAAAACCTAACATTATCAAACTTCTGGAACAGAAGCAGGCAAACTTTTTCTGCAA... | TAGTGTGGTATGTGTGAAATACAGACTAATAGATCATTGTAACATAATAGAGAGTCTAGAAATACACCCACATATTTAATTTTTGACAAAGTTGCTAAGGCAATCTCAACAGAAAGGTAAGTCTTTTCAACAAATGTTGCTAAAATATAAAGCAATTGGACATCCATATGCAAAAAAAAATATAAACAAACCAACATAACAAACCTCTACCTGCACTTCCTACCTTGCACAAAATTTAACTCCCAATGGATCACAGACCTAAATGTAAAACCTAACATTATCAAACTTCTGGAACAGAAGCAGGCAAACTTTTTCTGCAA... |
Task1_train_30850 | This sequence change occurs on Chromosome X, altering COL4A5 (collagen type IV alpha 5 chain). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | TATGTGTGAAATACAGACTAATAGATCATTGTAACATAATAGAGAGTCTAGAAATACACCCACATATTTAATTTTTGACAAAGTTGCTAAGGCAATCTCAACAGAAAGGTAAGTCTTTTCAACAAATGTTGCTAAAATATAAAGCAATTGGACATCCATATGCAAAAAAAAATATAAACAAACCAACATAACAAACCTCTACCTGCACTTCCTACCTTGCACAAAATTTAACTCCCAATGGATCACAGACCTAAATGTAAAACCTAACATTATCAAACTTCTGGAACAGAAGCAGGCAAACTTTTTCTGCAAAGAGCTAG... | TATGTGTGAAATACAGACTAATAGATCATTGTAACATAATAGAGAGTCTAGAAATACACCCACATATTTAATTTTTGACAAAGTTGCTAAGGCAATCTCAACAGAAAGGTAAGTCTTTTCAACAAATGTTGCTAAAATATAAAGCAATTGGACATCCATATGCAAAAAAAAATATAAACAAACCAACATAACAAACCTCTACCTGCACTTCCTACCTTGCACAAAATTTAACTCCCAATGGATCACAGACCTAAATGTAAAACCTAACATTATCAAACTTCTGGAACAGAAGCAGGCAAACTTTTTCTGCAAAGAGCTAG... |
Task1_train_30851 | Located on Chromosome X, this mutation impacts COL4A5 (collagen type IV alpha 5 chain). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; X-linked Alport syndrome | ATGTGTGAAATACAGACTAATAGATCATTGTAACATAATAGAGAGTCTAGAAATACACCCACATATTTAATTTTTGACAAAGTTGCTAAGGCAATCTCAACAGAAAGGTAAGTCTTTTCAACAAATGTTGCTAAAATATAAAGCAATTGGACATCCATATGCAAAAAAAAATATAAACAAACCAACATAACAAACCTCTACCTGCACTTCCTACCTTGCACAAAATTTAACTCCCAATGGATCACAGACCTAAATGTAAAACCTAACATTATCAAACTTCTGGAACAGAAGCAGGCAAACTTTTTCTGCAAAGAGCTAGA... | ATGTGTGAAATACAGACTAATAGATCATTGTAACATAATAGAGAGTCTAGAAATACACCCACATATTTAATTTTTGACAAAGTTGCTAAGGCAATCTCAACAGAAAGGTAAGTCTTTTCAACAAATGTTGCTAAAATATAAAGCAATTGGACATCCATATGCAAAAAAAAATATAAACAAACCAACATAACAAACCTCTACCTGCACTTCCTACCTTGCACAAAATTTAACTCCCAATGGATCACAGACCTAAATGTAAAACCTAACATTATCAAACTTCTGGAACAGAAGCAGGCAAACTTTTTCTGCAAAGAGCTAGA... |
Task1_train_30852 | A mutation found in COL4A5 (collagen type IV alpha 5 chain) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; X-linked Alport syndrome | AATTTTTGACAAAGTTGCTAAGGCAATCTCAACAGAAAGGTAAGTCTTTTCAACAAATGTTGCTAAAATATAAAGCAATTGGACATCCATATGCAAAAAAAAATATAAACAAACCAACATAACAAACCTCTACCTGCACTTCCTACCTTGCACAAAATTTAACTCCCAATGGATCACAGACCTAAATGTAAAACCTAACATTATCAAACTTCTGGAACAGAAGCAGGCAAACTTTTTCTGCAAAGAGCTAGAGAGTAAATATTTTAGTCTTTATGGGCTACATATATGGTCTCTGTCACATATTCTTTTTTAAACAACCC... | AATTTTTGACAAAGTTGCTAAGGCAATCTCAACAGAAAGGTAAGTCTTTTCAACAAATGTTGCTAAAATATAAAGCAATTGGACATCCATATGCAAAAAAAAATATAAACAAACCAACATAACAAACCTCTACCTGCACTTCCTACCTTGCACAAAATTTAACTCCCAATGGATCACAGACCTAAATGTAAAACCTAACATTATCAAACTTCTGGAACAGAAGCAGGCAAACTTTTTCTGCAAAGAGCTAGAGAGTAAATATTTTAGTCTTTATGGGCTACATATATGGTCTCTGTCACATATTCTTTTTTAAACAACCC... |
Task1_train_30853 | The gene COL4A5 (collagen type IV alpha 5 chain), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; X-linked Alport syndrome | ATTTTTGACAAAGTTGCTAAGGCAATCTCAACAGAAAGGTAAGTCTTTTCAACAAATGTTGCTAAAATATAAAGCAATTGGACATCCATATGCAAAAAAAAATATAAACAAACCAACATAACAAACCTCTACCTGCACTTCCTACCTTGCACAAAATTTAACTCCCAATGGATCACAGACCTAAATGTAAAACCTAACATTATCAAACTTCTGGAACAGAAGCAGGCAAACTTTTTCTGCAAAGAGCTAGAGAGTAAATATTTTAGTCTTTATGGGCTACATATATGGTCTCTGTCACATATTCTTTTTTAAACAACCCT... | ATTTTTGACAAAGTTGCTAAGGCAATCTCAACAGAAAGGTAAGTCTTTTCAACAAATGTTGCTAAAATATAAAGCAATTGGACATCCATATGCAAAAAAAAATATAAACAAACCAACATAACAAACCTCTACCTGCACTTCCTACCTTGCACAAAATTTAACTCCCAATGGATCACAGACCTAAATGTAAAACCTAACATTATCAAACTTCTGGAACAGAAGCAGGCAAACTTTTTCTGCAAAGAGCTAGAGAGTAAATATTTTAGTCTTTATGGGCTACATATATGGTCTCTGTCACATATTCTTTTTTAAACAACCCT... |
Task1_train_30854 | This alteration occurs within gene COL4A5 (collagen type IV alpha 5 chain) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; X-linked Alport syndrome | ATGAAGAAAGAAATCCTTGCCTAGTGCATGCAAGTTGTTTCTCCATAATCATATGCTAATAATGATTGATTTATCTATACCCAACCTGTTGTAGTATAAAATTAAATTAATTTTTAAATTTGAACTAAACTTTAGGAGCTTAAATTCCAAAAAGATTATTTAAATCATTAAGTCAGAGATAAACAATTGAAAAGCTGACCTTTACCAAAAGGTAATACTTTTGTGAATGTAAATATTTTATTATGTCATTATTGGCAAATACATTTCATTTATAGAATAAGCTATATGAACATCTAAGCAAATGCCTAAAATAAGTTTTT... | ATGAAGAAAGAAATCCTTGCCTAGTGCATGCAAGTTGTTTCTCCATAATCATATGCTAATAATGATTGATTTATCTATACCCAACCTGTTGTAGTATAAAATTAAATTAATTTTTAAATTTGAACTAAACTTTAGGAGCTTAAATTCCAAAAAGATTATTTAAATCATTAAGTCAGAGATAAACAATTGAAAAGCTGACCTTTACCAAAAGGTAATACTTTTGTGAATGTAAATATTTTATTATGTCATTATTGGCAAATACATTTCATTTATAGAATAAGCTATATGAACATCTAAGCAAATGCCTAAAATAAGTTTTT... |
Task1_train_30855 | Gene COL4A5 (collagen type IV alpha 5 chain) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; X-linked Alport syndrome | AGAAATCCTTGCCTAGTGCATGCAAGTTGTTTCTCCATAATCATATGCTAATAATGATTGATTTATCTATACCCAACCTGTTGTAGTATAAAATTAAATTAATTTTTAAATTTGAACTAAACTTTAGGAGCTTAAATTCCAAAAAGATTATTTAAATCATTAAGTCAGAGATAAACAATTGAAAAGCTGACCTTTACCAAAAGGTAATACTTTTGTGAATGTAAATATTTTATTATGTCATTATTGGCAAATACATTTCATTTATAGAATAAGCTATATGAACATCTAAGCAAATGCCTAAAATAAGTTTTTTCACTCAT... | AGAAATCCTTGCCTAGTGCATGCAAGTTGTTTCTCCATAATCATATGCTAATAATGATTGATTTATCTATACCCAACCTGTTGTAGTATAAAATTAAATTAATTTTTAAATTTGAACTAAACTTTAGGAGCTTAAATTCCAAAAAGATTATTTAAATCATTAAGTCAGAGATAAACAATTGAAAAGCTGACCTTTACCAAAAGGTAATACTTTTGTGAATGTAAATATTTTATTATGTCATTATTGGCAAATACATTTCATTTATAGAATAAGCTATATGAACATCTAAGCAAATGCCTAAAATAAGTTTTTTCACTCAT... |
Task1_train_30856 | A mutation found in COL4A5 (collagen type IV alpha 5 chain) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | GAAATCCTTGCCTAGTGCATGCAAGTTGTTTCTCCATAATCATATGCTAATAATGATTGATTTATCTATACCCAACCTGTTGTAGTATAAAATTAAATTAATTTTTAAATTTGAACTAAACTTTAGGAGCTTAAATTCCAAAAAGATTATTTAAATCATTAAGTCAGAGATAAACAATTGAAAAGCTGACCTTTACCAAAAGGTAATACTTTTGTGAATGTAAATATTTTATTATGTCATTATTGGCAAATACATTTCATTTATAGAATAAGCTATATGAACATCTAAGCAAATGCCTAAAATAAGTTTTTTCACTCATT... | GAAATCCTTGCCTAGTGCATGCAAGTTGTTTCTCCATAATCATATGCTAATAATGATTGATTTATCTATACCCAACCTGTTGTAGTATAAAATTAAATTAATTTTTAAATTTGAACTAAACTTTAGGAGCTTAAATTCCAAAAAGATTATTTAAATCATTAAGTCAGAGATAAACAATTGAAAAGCTGACCTTTACCAAAAGGTAATACTTTTGTGAATGTAAATATTTTATTATGTCATTATTGGCAAATACATTTCATTTATAGAATAAGCTATATGAACATCTAAGCAAATGCCTAAAATAAGTTTTTTCACTCATT... |
Task1_train_30857 | A change on Chromosome X affects gene COL4A5 (collagen type IV alpha 5 chain). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; X-linked Alport syndrome | ATGCAAGTTGTTTCTCCATAATCATATGCTAATAATGATTGATTTATCTATACCCAACCTGTTGTAGTATAAAATTAAATTAATTTTTAAATTTGAACTAAACTTTAGGAGCTTAAATTCCAAAAAGATTATTTAAATCATTAAGTCAGAGATAAACAATTGAAAAGCTGACCTTTACCAAAAGGTAATACTTTTGTGAATGTAAATATTTTATTATGTCATTATTGGCAAATACATTTCATTTATAGAATAAGCTATATGAACATCTAAGCAAATGCCTAAAATAAGTTTTTTCACTCATTTCTAATATATGATAGCAG... | ATGCAAGTTGTTTCTCCATAATCATATGCTAATAATGATTGATTTATCTATACCCAACCTGTTGTAGTATAAAATTAAATTAATTTTTAAATTTGAACTAAACTTTAGGAGCTTAAATTCCAAAAAGATTATTTAAATCATTAAGTCAGAGATAAACAATTGAAAAGCTGACCTTTACCAAAAGGTAATACTTTTGTGAATGTAAATATTTTATTATGTCATTATTGGCAAATACATTTCATTTATAGAATAAGCTATATGAACATCTAAGCAAATGCCTAAAATAAGTTTTTTCACTCATTTCTAATATATGATAGCAG... |
Task1_train_30858 | This variant lies on Chromosome X and affects the gene COL4A5 (collagen type IV alpha 5 chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | TGTTTCTCCATAATCATATGCTAATAATGATTGATTTATCTATACCCAACCTGTTGTAGTATAAAATTAAATTAATTTTTAAATTTGAACTAAACTTTAGGAGCTTAAATTCCAAAAAGATTATTTAAATCATTAAGTCAGAGATAAACAATTGAAAAGCTGACCTTTACCAAAAGGTAATACTTTTGTGAATGTAAATATTTTATTATGTCATTATTGGCAAATACATTTCATTTATAGAATAAGCTATATGAACATCTAAGCAAATGCCTAAAATAAGTTTTTTCACTCATTTCTAATATATGATAGCAGTGAATCGA... | TGTTTCTCCATAATCATATGCTAATAATGATTGATTTATCTATACCCAACCTGTTGTAGTATAAAATTAAATTAATTTTTAAATTTGAACTAAACTTTAGGAGCTTAAATTCCAAAAAGATTATTTAAATCATTAAGTCAGAGATAAACAATTGAAAAGCTGACCTTTACCAAAAGGTAATACTTTTGTGAATGTAAATATTTTATTATGTCATTATTGGCAAATACATTTCATTTATAGAATAAGCTATATGAACATCTAAGCAAATGCCTAAAATAAGTTTTTTCACTCATTTCTAATATATGATAGCAGTGAATCGA... |
Task1_train_30859 | A variant has been detected on Chromosome X in COL4A5 (collagen type IV alpha 5 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | TGCTAATAATGATTGATTTATCTATACCCAACCTGTTGTAGTATAAAATTAAATTAATTTTTAAATTTGAACTAAACTTTAGGAGCTTAAATTCCAAAAAGATTATTTAAATCATTAAGTCAGAGATAAACAATTGAAAAGCTGACCTTTACCAAAAGGTAATACTTTTGTGAATGTAAATATTTTATTATGTCATTATTGGCAAATACATTTCATTTATAGAATAAGCTATATGAACATCTAAGCAAATGCCTAAAATAAGTTTTTTCACTCATTTCTAATATATGATAGCAGTGAATCGAGGTCTAATAACTTCTATT... | TGCTAATAATGATTGATTTATCTATACCCAACCTGTTGTAGTATAAAATTAAATTAATTTTTAAATTTGAACTAAACTTTAGGAGCTTAAATTCCAAAAAGATTATTTAAATCATTAAGTCAGAGATAAACAATTGAAAAGCTGACCTTTACCAAAAGGTAATACTTTTGTGAATGTAAATATTTTATTATGTCATTATTGGCAAATACATTTCATTTATAGAATAAGCTATATGAACATCTAAGCAAATGCCTAAAATAAGTTTTTTCACTCATTTCTAATATATGATAGCAGTGAATCGAGGTCTAATAACTTCTATT... |
Task1_train_30860 | Consider this mutation in COL4A5 (collagen type IV alpha 5 chain) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | GCTAATAATGATTGATTTATCTATACCCAACCTGTTGTAGTATAAAATTAAATTAATTTTTAAATTTGAACTAAACTTTAGGAGCTTAAATTCCAAAAAGATTATTTAAATCATTAAGTCAGAGATAAACAATTGAAAAGCTGACCTTTACCAAAAGGTAATACTTTTGTGAATGTAAATATTTTATTATGTCATTATTGGCAAATACATTTCATTTATAGAATAAGCTATATGAACATCTAAGCAAATGCCTAAAATAAGTTTTTTCACTCATTTCTAATATATGATAGCAGTGAATCGAGGTCTAATAACTTCTATTT... | GCTAATAATGATTGATTTATCTATACCCAACCTGTTGTAGTATAAAATTAAATTAATTTTTAAATTTGAACTAAACTTTAGGAGCTTAAATTCCAAAAAGATTATTTAAATCATTAAGTCAGAGATAAACAATTGAAAAGCTGACCTTTACCAAAAGGTAATACTTTTGTGAATGTAAATATTTTATTATGTCATTATTGGCAAATACATTTCATTTATAGAATAAGCTATATGAACATCTAAGCAAATGCCTAAAATAAGTTTTTTCACTCATTTCTAATATATGATAGCAGTGAATCGAGGTCTAATAACTTCTATTT... |
Task1_train_30861 | Here is a genetic alteration in COL4A5 (collagen type IV alpha 5 chain) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Alport syndrome | ATAATTTATAATACATTAGAACAATGCAAATGTAAGTGTGTTCAATAGACCAGTGTCAAATAATCTATCAGTCTGCAATAGGATTAATACAAATGTTGAGAATAAGCATTTAGAAACTTTTATAGCAATTTGATAGTGTAATTGTATCTGTTGAATATAATAACCAAAAAGGTAGGCTTTTATTTTGCATCTTTGGCTTTTTATTCAGTTTTAGTAATTTTCATTGTATTTTATAAAAAATATTAGTCTGTGATTAACTAGGAATTAAGAAAAGATTGGCCTTTTGCCAGAAATAATTTGAGAAGCACTGTCTTAGAGCA... | ATAATTTATAATACATTAGAACAATGCAAATGTAAGTGTGTTCAATAGACCAGTGTCAAATAATCTATCAGTCTGCAATAGGATTAATACAAATGTTGAGAATAAGCATTTAGAAACTTTTATAGCAATTTGATAGTGTAATTGTATCTGTTGAATATAATAACCAAAAAGGTAGGCTTTTATTTTGCATCTTTGGCTTTTTATTCAGTTTTAGTAATTTTCATTGTATTTTATAAAAAATATTAGTCTGTGATTAACTAGGAATTAAGAAAAGATTGGCCTTTTGCCAGAAATAATTTGAGAAGCACTGTCTTAGAGCA... |
Task1_train_30862 | Given this context: Chromosome X, gene COL4A5 (collagen type IV alpha 5 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | TAATACATTAGAACAATGCAAATGTAAGTGTGTTCAATAGACCAGTGTCAAATAATCTATCAGTCTGCAATAGGATTAATACAAATGTTGAGAATAAGCATTTAGAAACTTTTATAGCAATTTGATAGTGTAATTGTATCTGTTGAATATAATAACCAAAAAGGTAGGCTTTTATTTTGCATCTTTGGCTTTTTATTCAGTTTTAGTAATTTTCATTGTATTTTATAAAAAATATTAGTCTGTGATTAACTAGGAATTAAGAAAAGATTGGCCTTTTGCCAGAAATAATTTGAGAAGCACTGTCTTAGAGCAATCTGCTT... | TAATACATTAGAACAATGCAAATGTAAGTGTGTTCAATAGACCAGTGTCAAATAATCTATCAGTCTGCAATAGGATTAATACAAATGTTGAGAATAAGCATTTAGAAACTTTTATAGCAATTTGATAGTGTAATTGTATCTGTTGAATATAATAACCAAAAAGGTAGGCTTTTATTTTGCATCTTTGGCTTTTTATTCAGTTTTAGTAATTTTCATTGTATTTTATAAAAAATATTAGTCTGTGATTAACTAGGAATTAAGAAAAGATTGGCCTTTTGCCAGAAATAATTTGAGAAGCACTGTCTTAGAGCAATCTGCTT... |
Task1_train_30863 | Assess the clinical impact of this variant on gene COL4A5 (collagen type IV alpha 5 chain), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; X-linked Alport syndrome | TCTATCAGTCTGCAATAGGATTAATACAAATGTTGAGAATAAGCATTTAGAAACTTTTATAGCAATTTGATAGTGTAATTGTATCTGTTGAATATAATAACCAAAAAGGTAGGCTTTTATTTTGCATCTTTGGCTTTTTATTCAGTTTTAGTAATTTTCATTGTATTTTATAAAAAATATTAGTCTGTGATTAACTAGGAATTAAGAAAAGATTGGCCTTTTGCCAGAAATAATTTGAGAAGCACTGTCTTAGAGCAATCTGCTTGAAAATCCTAAAGCTTGATTGTTCAGTTATTTTGTGTGCATGATGTCAAAAGTAT... | TCTATCAGTCTGCAATAGGATTAATACAAATGTTGAGAATAAGCATTTAGAAACTTTTATAGCAATTTGATAGTGTAATTGTATCTGTTGAATATAATAACCAAAAAGGTAGGCTTTTATTTTGCATCTTTGGCTTTTTATTCAGTTTTAGTAATTTTCATTGTATTTTATAAAAAATATTAGTCTGTGATTAACTAGGAATTAAGAAAAGATTGGCCTTTTGCCAGAAATAATTTGAGAAGCACTGTCTTAGAGCAATCTGCTTGAAAATCCTAAAGCTTGATTGTTCAGTTATTTTGTGTGCATGATGTCAAAAGTAT... |
Task1_train_30864 | With a mutation on Chromosome X in gene COL4A5 (collagen type IV alpha 5 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | GAAGATTTTGCAGCTCTAGAATTAAGGGATGACTTGACTGGTTCATTTATCTCTAACCCACGTTGCCCCAGCTGGAGTGTTTGGGACTGAAAGGTCTACTTCTAAGATGGCACTTCTCTGACATCTGGGTGTTCATTAGCTCACATGTCATCTCATCGTCCATGGTACCTCTTCGCATGGCTTAGGCTCCTCACATTATGGTAGTATAAGGCTGGTTGCTCCCCTTCCATGGCAGCTGGCTTCCAACAGAGAGAATCCCACAAGAGAAAAGTGAGTGTTTCAGGAACTACAGGTAGAAGCGGCAAGATTTCTTTTCTTTC... | GAAGATTTTGCAGCTCTAGAATTAAGGGATGACTTGACTGGTTCATTTATCTCTAACCCACGTTGCCCCAGCTGGAGTGTTTGGGACTGAAAGGTCTACTTCTAAGATGGCACTTCTCTGACATCTGGGTGTTCATTAGCTCACATGTCATCTCATCGTCCATGGTACCTCTTCGCATGGCTTAGGCTCCTCACATTATGGTAGTATAAGGCTGGTTGCTCCCCTTCCATGGCAGCTGGCTTCCAACAGAGAGAATCCCACAAGAGAAAAGTGAGTGTTTCAGGAACTACAGGTAGAAGCGGCAAGATTTCTTTTCTTTC... |
Task1_train_30865 | This is a variant in COL4A5 (collagen type IV alpha 5 chain), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | TCATGTGTATGTGTATGTGTATGTGAGTGTACACAGATGTTAACAGTTTCCCTATGAGCAGGATTTGGTGGGATTTTTCCTCAAAAAAGAATTAAAAATATTAATGCAGTGTTGTATATAGTCAAGAAAGAGGCAGGGTCACCTAATTTTTTATGGAATGACTTTCTTGGCTTACCCCTTGCAAGGCTTCTTTTCTGTTTCAATTATGCTTCCTGTATAATAGGGGCAGTAAACTATACTTGACCTCTACTATAGGCTTATTAAATATAGTCAGAATCTAAGAGATAACCTAGAGATTATCTGTCCTTATTCCTTATTTC... | TCATGTGTATGTGTATGTGTATGTGAGTGTACACAGATGTTAACAGTTTCCCTATGAGCAGGATTTGGTGGGATTTTTCCTCAAAAAAGAATTAAAAATATTAATGCAGTGTTGTATATAGTCAAGAAAGAGGCAGGGTCACCTAATTTTTTATGGAATGACTTTCTTGGCTTACCCCTTGCAAGGCTTCTTTTCTGTTTCAATTATGCTTCCTGTATAATAGGGGCAGTAAACTATACTTGACCTCTACTATAGGCTTATTAAATATAGTCAGAATCTAAGAGATAACCTAGAGATTATCTGTCCTTATTCCTTATTTC... |
Task1_train_30866 | A change on Chromosome X affects gene COL4A5 (collagen type IV alpha 5 chain). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not provided | GTATGTGAGTGTACACAGATGTTAACAGTTTCCCTATGAGCAGGATTTGGTGGGATTTTTCCTCAAAAAAGAATTAAAAATATTAATGCAGTGTTGTATATAGTCAAGAAAGAGGCAGGGTCACCTAATTTTTTATGGAATGACTTTCTTGGCTTACCCCTTGCAAGGCTTCTTTTCTGTTTCAATTATGCTTCCTGTATAATAGGGGCAGTAAACTATACTTGACCTCTACTATAGGCTTATTAAATATAGTCAGAATCTAAGAGATAACCTAGAGATTATCTGTCCTTATTCCTTATTTCTTCATTTCCATTGTAAGA... | GTATGTGAGTGTACACAGATGTTAACAGTTTCCCTATGAGCAGGATTTGGTGGGATTTTTCCTCAAAAAAGAATTAAAAATATTAATGCAGTGTTGTATATAGTCAAGAAAGAGGCAGGGTCACCTAATTTTTTATGGAATGACTTTCTTGGCTTACCCCTTGCAAGGCTTCTTTTCTGTTTCAATTATGCTTCCTGTATAATAGGGGCAGTAAACTATACTTGACCTCTACTATAGGCTTATTAAATATAGTCAGAATCTAAGAGATAACCTAGAGATTATCTGTCCTTATTCCTTATTTCTTCATTTCCATTGTAAGA... |
Task1_train_30867 | This gene mutation involves COL4A5 (collagen type IV alpha 5 chain) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | AATTAAAAATATTAATGCAGTGTTGTATATAGTCAAGAAAGAGGCAGGGTCACCTAATTTTTTATGGAATGACTTTCTTGGCTTACCCCTTGCAAGGCTTCTTTTCTGTTTCAATTATGCTTCCTGTATAATAGGGGCAGTAAACTATACTTGACCTCTACTATAGGCTTATTAAATATAGTCAGAATCTAAGAGATAACCTAGAGATTATCTGTCCTTATTCCTTATTTCTTCATTTCCATTGTAAGAAAATGAGGCCCAAAATAGGAAAGTGATTTCACTACTGAGTGCTCTGAATTTCTTGATGGTAGGTAACTAAA... | AATTAAAAATATTAATGCAGTGTTGTATATAGTCAAGAAAGAGGCAGGGTCACCTAATTTTTTATGGAATGACTTTCTTGGCTTACCCCTTGCAAGGCTTCTTTTCTGTTTCAATTATGCTTCCTGTATAATAGGGGCAGTAAACTATACTTGACCTCTACTATAGGCTTATTAAATATAGTCAGAATCTAAGAGATAACCTAGAGATTATCTGTCCTTATTCCTTATTTCTTCATTTCCATTGTAAGAAAATGAGGCCCAAAATAGGAAAGTGATTTCACTACTGAGTGCTCTGAATTTCTTGATGGTAGGTAACTAAA... |
Task1_train_30868 | Here is a mutation in COL4A5 (collagen type IV alpha 5 chain) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; X-linked Alport syndrome | CAGGGCCAAAAGGTTATCAGGGTTTGCCTGGAGACCCAGGGCAACCTGGACTGAGTGGACAACCTGGATTACCAGGACCACCAGGTAAGTGTGATAGGCCATTTGTAGCAATTGCTTAGCTGACACTGAATTCTGGATAAATAATTATGTGTTTGTCATGTTTGAAGATGCTGTGGATTTGATCATGGTAATAAGCTTGGGTAGCTACTGAAATATGGAGCTCACTTTCGGCAAAAATATTGCCCTTTGGCTCTAGTTTTAGCAGTCCAGATTTTATAGGATATTTTGCCTTGATTATTCAGTTTCTTCTTTTTGTGGCA... | CAGGGCCAAAAGGTTATCAGGGTTTGCCTGGAGACCCAGGGCAACCTGGACTGAGTGGACAACCTGGATTACCAGGACCACCAGGTAAGTGTGATAGGCCATTTGTAGCAATTGCTTAGCTGACACTGAATTCTGGATAAATAATTATGTGTTTGTCATGTTTGAAGATGCTGTGGATTTGATCATGGTAATAAGCTTGGGTAGCTACTGAAATATGGAGCTCACTTTCGGCAAAAATATTGCCCTTTGGCTCTAGTTTTAGCAGTCCAGATTTTATAGGATATTTTGCCTTGATTATTCAGTTTCTTCTTTTTGTGGCA... |
Task1_train_30869 | This sequence variant lies in COL4A5 (collagen type IV alpha 5 chain) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; X-linked Alport syndrome | AGGGCCAAAAGGTTATCAGGGTTTGCCTGGAGACCCAGGGCAACCTGGACTGAGTGGACAACCTGGATTACCAGGACCACCAGGTAAGTGTGATAGGCCATTTGTAGCAATTGCTTAGCTGACACTGAATTCTGGATAAATAATTATGTGTTTGTCATGTTTGAAGATGCTGTGGATTTGATCATGGTAATAAGCTTGGGTAGCTACTGAAATATGGAGCTCACTTTCGGCAAAAATATTGCCCTTTGGCTCTAGTTTTAGCAGTCCAGATTTTATAGGATATTTTGCCTTGATTATTCAGTTTCTTCTTTTTGTGGCAG... | AGGGCCAAAAGGTTATCAGGGTTTGCCTGGAGACCCAGGGCAACCTGGACTGAGTGGACAACCTGGATTACCAGGACCACCAGGTAAGTGTGATAGGCCATTTGTAGCAATTGCTTAGCTGACACTGAATTCTGGATAAATAATTATGTGTTTGTCATGTTTGAAGATGCTGTGGATTTGATCATGGTAATAAGCTTGGGTAGCTACTGAAATATGGAGCTCACTTTCGGCAAAAATATTGCCCTTTGGCTCTAGTTTTAGCAGTCCAGATTTTATAGGATATTTTGCCTTGATTATTCAGTTTCTTCTTTTTGTGGCAG... |
Task1_train_30870 | Assess the clinical impact of this variant on gene COL4A5 (collagen type IV alpha 5 chain), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; X-linked Alport syndrome | AGGGCCAAAAGGTTATCAGGGTTTGCCTGGAGACCCAGGGCAACCTGGACTGAGTGGACAACCTGGATTACCAGGACCACCAGGTAAGTGTGATAGGCCATTTGTAGCAATTGCTTAGCTGACACTGAATTCTGGATAAATAATTATGTGTTTGTCATGTTTGAAGATGCTGTGGATTTGATCATGGTAATAAGCTTGGGTAGCTACTGAAATATGGAGCTCACTTTCGGCAAAAATATTGCCCTTTGGCTCTAGTTTTAGCAGTCCAGATTTTATAGGATATTTTGCCTTGATTATTCAGTTTCTTCTTTTTGTGGCAG... | AGGGCCAAAAGGTTATCAGGGTTTGCCTGGAGACCCAGGGCAACCTGGACTGAGTGGACAACCTGGATTACCAGGACCACCAGGTAAGTGTGATAGGCCATTTGTAGCAATTGCTTAGCTGACACTGAATTCTGGATAAATAATTATGTGTTTGTCATGTTTGAAGATGCTGTGGATTTGATCATGGTAATAAGCTTGGGTAGCTACTGAAATATGGAGCTCACTTTCGGCAAAAATATTGCCCTTTGGCTCTAGTTTTAGCAGTCCAGATTTTATAGGATATTTTGCCTTGATTATTCAGTTTCTTCTTTTTGTGGCAG... |
Task1_train_30871 | Mutation context: Chromosome X, Gene COL4A5 (collagen type IV alpha 5 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | TACCAAGGGGGATACATTCCAAGACCCCCCGTTGGATGCCTGAACCTGTGGATAATACCTAACCTTTTATATACTGTGTGGTTTTTTTTTTCCATCTGGTAACAGAGACAGCTACTAAGTGACTCATAGACAGGTAGTGTTTATAGCATGGATATGCTGGGGAAAGGAGTAGTTCAGGTTTCGAGAGGGATGGAATGGGACAACATGACATTTTATCATGCTACACAAAATGGCGTGCAATTAAAAACATAAATTATTTATTTCTGGAATTTTCAATATTTTCAGAACACAGGTGACTGAAACCATGGATAGCAAAACCA... | TACCAAGGGGGATACATTCCAAGACCCCCCGTTGGATGCCTGAACCTGTGGATAATACCTAACCTTTTATATACTGTGTGGTTTTTTTTTTCCATCTGGTAACAGAGACAGCTACTAAGTGACTCATAGACAGGTAGTGTTTATAGCATGGATATGCTGGGGAAAGGAGTAGTTCAGGTTTCGAGAGGGATGGAATGGGACAACATGACATTTTATCATGCTACACAAAATGGCGTGCAATTAAAAACATAAATTATTTATTTCTGGAATTTTCAATATTTTCAGAACACAGGTGACTGAAACCATGGATAGCAAAACCA... |
Task1_train_30872 | Given a variant located on Chromosome X and affecting COL4A5 (collagen type IV alpha 5 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Alport syndrome | ATACCTAACCTTTTATATACTGTGTGGTTTTTTTTTTCCATCTGGTAACAGAGACAGCTACTAAGTGACTCATAGACAGGTAGTGTTTATAGCATGGATATGCTGGGGAAAGGAGTAGTTCAGGTTTCGAGAGGGATGGAATGGGACAACATGACATTTTATCATGCTACACAAAATGGCGTGCAATTAAAAACATAAATTATTTATTTCTGGAATTTTCAATATTTTCAGAACACAGGTGACTGAAACCATGGATAGCAAAACCATGGATAAGGAAGAATTTCTGTACTTTTAGAATTTAATGTCCTTTAGTATCATAA... | ATACCTAACCTTTTATATACTGTGTGGTTTTTTTTTTCCATCTGGTAACAGAGACAGCTACTAAGTGACTCATAGACAGGTAGTGTTTATAGCATGGATATGCTGGGGAAAGGAGTAGTTCAGGTTTCGAGAGGGATGGAATGGGACAACATGACATTTTATCATGCTACACAAAATGGCGTGCAATTAAAAACATAAATTATTTATTTCTGGAATTTTCAATATTTTCAGAACACAGGTGACTGAAACCATGGATAGCAAAACCATGGATAAGGAAGAATTTCTGTACTTTTAGAATTTAATGTCCTTTAGTATCATAA... |
Task1_train_30873 | Consider a variant on Chromosome X in gene COL4A5 (collagen type IV alpha 5 chain). Determine its clinical classification and disease relevance. | Pathogenic; X-linked Alport syndrome | CTTTTATATACTGTGTGGTTTTTTTTTTCCATCTGGTAACAGAGACAGCTACTAAGTGACTCATAGACAGGTAGTGTTTATAGCATGGATATGCTGGGGAAAGGAGTAGTTCAGGTTTCGAGAGGGATGGAATGGGACAACATGACATTTTATCATGCTACACAAAATGGCGTGCAATTAAAAACATAAATTATTTATTTCTGGAATTTTCAATATTTTCAGAACACAGGTGACTGAAACCATGGATAGCAAAACCATGGATAAGGAAGAATTTCTGTACTTTTAGAATTTAATGTCCTTTAGTATCATAAATAATCCAG... | CTTTTATATACTGTGTGGTTTTTTTTTTCCATCTGGTAACAGAGACAGCTACTAAGTGACTCATAGACAGGTAGTGTTTATAGCATGGATATGCTGGGGAAAGGAGTAGTTCAGGTTTCGAGAGGGATGGAATGGGACAACATGACATTTTATCATGCTACACAAAATGGCGTGCAATTAAAAACATAAATTATTTATTTCTGGAATTTTCAATATTTTCAGAACACAGGTGACTGAAACCATGGATAGCAAAACCATGGATAAGGAAGAATTTCTGTACTTTTAGAATTTAATGTCCTTTAGTATCATAAATAATCCAG... |
Task1_train_30874 | This variant affects gene COL4A5 (collagen type IV alpha 5 chain) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; X-linked Alport syndrome | CCATCTGGTAACAGAGACAGCTACTAAGTGACTCATAGACAGGTAGTGTTTATAGCATGGATATGCTGGGGAAAGGAGTAGTTCAGGTTTCGAGAGGGATGGAATGGGACAACATGACATTTTATCATGCTACACAAAATGGCGTGCAATTAAAAACATAAATTATTTATTTCTGGAATTTTCAATATTTTCAGAACACAGGTGACTGAAACCATGGATAGCAAAACCATGGATAAGGAAGAATTTCTGTACTTTTAGAATTTAATGTCCTTTAGTATCATAAATAATCCAGAGTTTGCCTTCTGCCTTTCAGATTTACC... | CCATCTGGTAACAGAGACAGCTACTAAGTGACTCATAGACAGGTAGTGTTTATAGCATGGATATGCTGGGGAAAGGAGTAGTTCAGGTTTCGAGAGGGATGGAATGGGACAACATGACATTTTATCATGCTACACAAAATGGCGTGCAATTAAAAACATAAATTATTTATTTCTGGAATTTTCAATATTTTCAGAACACAGGTGACTGAAACCATGGATAGCAAAACCATGGATAAGGAAGAATTTCTGTACTTTTAGAATTTAATGTCCTTTAGTATCATAAATAATCCAGAGTTTGCCTTCTGCCTTTCAGATTTACC... |
Task1_train_30875 | This is a variant in COL4A5 (collagen type IV alpha 5 chain), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | AGTGACTCATAGACAGGTAGTGTTTATAGCATGGATATGCTGGGGAAAGGAGTAGTTCAGGTTTCGAGAGGGATGGAATGGGACAACATGACATTTTATCATGCTACACAAAATGGCGTGCAATTAAAAACATAAATTATTTATTTCTGGAATTTTCAATATTTTCAGAACACAGGTGACTGAAACCATGGATAGCAAAACCATGGATAAGGAAGAATTTCTGTACTTTTAGAATTTAATGTCCTTTAGTATCATAAATAATCCAGAGTTTGCCTTCTGCCTTTCAGATTTACCACTAGCAGAATAGTGGAATTTTTTTC... | AGTGACTCATAGACAGGTAGTGTTTATAGCATGGATATGCTGGGGAAAGGAGTAGTTCAGGTTTCGAGAGGGATGGAATGGGACAACATGACATTTTATCATGCTACACAAAATGGCGTGCAATTAAAAACATAAATTATTTATTTCTGGAATTTTCAATATTTTCAGAACACAGGTGACTGAAACCATGGATAGCAAAACCATGGATAAGGAAGAATTTCTGTACTTTTAGAATTTAATGTCCTTTAGTATCATAAATAATCCAGAGTTTGCCTTCTGCCTTTCAGATTTACCACTAGCAGAATAGTGGAATTTTTTTC... |
Task1_train_30876 | A mutation in COL4A5 (collagen type IV alpha 5 chain), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; X-linked Alport syndrome | TGGGAGCTGAACAATGAGAATACATGGACACAGGAAGGGGAACAACACACACTGTGGCCTGTGGAGCAGGGTGTTTGGGTCAGGGGGATGGAGAGCATCAGGAAAAATAGCTAAGGCATGCTGGGCTTAATTCTTAGGTGATGGTTTGATAGGTACAGCAAACCACCATGACACACGTTTACCTGTGTAACAAACCTGCACATCCTGCATACGTACCCCAGAACTTAAAATAAAAAAAAAAAAGATGCCAGTTGCCTCTAAAGTCATTCATAGATTCAAAGTGATTCCAGTTTAACCCAACAACCTTTATTTGGTAACAG... | TGGGAGCTGAACAATGAGAATACATGGACACAGGAAGGGGAACAACACACACTGTGGCCTGTGGAGCAGGGTGTTTGGGTCAGGGGGATGGAGAGCATCAGGAAAAATAGCTAAGGCATGCTGGGCTTAATTCTTAGGTGATGGTTTGATAGGTACAGCAAACCACCATGACACACGTTTACCTGTGTAACAAACCTGCACATCCTGCATACGTACCCCAGAACTTAAAATAAAAAAAAAAAAGATGCCAGTTGCCTCTAAAGTCATTCATAGATTCAAAGTGATTCCAGTTTAACCCAACAACCTTTATTTGGTAACAG... |
Task1_train_30877 | A genetic alteration is present in COL4A5 (collagen type IV alpha 5 chain) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | AAAACATAGATAGATATTTCCGTGACTTGGCATAGGCAGATTTTCTTAGGATACAAAAAGCAGTAACTGTAAAAGAAAAAAATTGATAGATTAGATTTAAATTTTTAAACTACTTTTATCAGAAAACACCGCTAGGAAAATGAATAGGAAAGCCACAGACAAGGAGAAAATATTTGCAAAACATAACTGACAAATTACTGATATCTAGGATATGTAAAAAACTTCAATAACTCAATAATAACAAGATGTATTATCCAATTTTGAAAAATGGAGAAAACTTTGAATAGATACTTCACGAAAGAAGATATACAAGTGGCCAA... | AAAACATAGATAGATATTTCCGTGACTTGGCATAGGCAGATTTTCTTAGGATACAAAAAGCAGTAACTGTAAAAGAAAAAAATTGATAGATTAGATTTAAATTTTTAAACTACTTTTATCAGAAAACACCGCTAGGAAAATGAATAGGAAAGCCACAGACAAGGAGAAAATATTTGCAAAACATAACTGACAAATTACTGATATCTAGGATATGTAAAAAACTTCAATAACTCAATAATAACAAGATGTATTATCCAATTTTGAAAAATGGAGAAAACTTTGAATAGATACTTCACGAAAGAAGATATACAAGTGGCCAA... |
Task1_train_30878 | This alteration in COL4A5 (collagen type IV alpha 5 chain) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; X-linked Alport syndrome | AAAACATAGATAGATATTTCCGTGACTTGGCATAGGCAGATTTTCTTAGGATACAAAAAGCAGTAACTGTAAAAGAAAAAAATTGATAGATTAGATTTAAATTTTTAAACTACTTTTATCAGAAAACACCGCTAGGAAAATGAATAGGAAAGCCACAGACAAGGAGAAAATATTTGCAAAACATAACTGACAAATTACTGATATCTAGGATATGTAAAAAACTTCAATAACTCAATAATAACAAGATGTATTATCCAATTTTGAAAAATGGAGAAAACTTTGAATAGATACTTCACGAAAGAAGATATACAAGTGGCCAA... | AAAACATAGATAGATATTTCCGTGACTTGGCATAGGCAGATTTTCTTAGGATACAAAAAGCAGTAACTGTAAAAGAAAAAAATTGATAGATTAGATTTAAATTTTTAAACTACTTTTATCAGAAAACACCGCTAGGAAAATGAATAGGAAAGCCACAGACAAGGAGAAAATATTTGCAAAACATAACTGACAAATTACTGATATCTAGGATATGTAAAAAACTTCAATAACTCAATAATAACAAGATGTATTATCCAATTTTGAAAAATGGAGAAAACTTTGAATAGATACTTCACGAAAGAAGATATACAAGTGGCCAA... |
Task1_train_30879 | Gene COL4A5 (collagen type IV alpha 5 chain) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; not provided | AAACATAGATAGATATTTCCGTGACTTGGCATAGGCAGATTTTCTTAGGATACAAAAAGCAGTAACTGTAAAAGAAAAAAATTGATAGATTAGATTTAAATTTTTAAACTACTTTTATCAGAAAACACCGCTAGGAAAATGAATAGGAAAGCCACAGACAAGGAGAAAATATTTGCAAAACATAACTGACAAATTACTGATATCTAGGATATGTAAAAAACTTCAATAACTCAATAATAACAAGATGTATTATCCAATTTTGAAAAATGGAGAAAACTTTGAATAGATACTTCACGAAAGAAGATATACAAGTGGCCAAT... | AAACATAGATAGATATTTCCGTGACTTGGCATAGGCAGATTTTCTTAGGATACAAAAAGCAGTAACTGTAAAAGAAAAAAATTGATAGATTAGATTTAAATTTTTAAACTACTTTTATCAGAAAACACCGCTAGGAAAATGAATAGGAAAGCCACAGACAAGGAGAAAATATTTGCAAAACATAACTGACAAATTACTGATATCTAGGATATGTAAAAAACTTCAATAACTCAATAATAACAAGATGTATTATCCAATTTTGAAAAATGGAGAAAACTTTGAATAGATACTTCACGAAAGAAGATATACAAGTGGCCAAT... |
Task1_train_30880 | A sequence alteration has been identified in COL4A5 (collagen type IV alpha 5 chain) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; not provided | TAGATATTTCCGTGACTTGGCATAGGCAGATTTTCTTAGGATACAAAAAGCAGTAACTGTAAAAGAAAAAAATTGATAGATTAGATTTAAATTTTTAAACTACTTTTATCAGAAAACACCGCTAGGAAAATGAATAGGAAAGCCACAGACAAGGAGAAAATATTTGCAAAACATAACTGACAAATTACTGATATCTAGGATATGTAAAAAACTTCAATAACTCAATAATAACAAGATGTATTATCCAATTTTGAAAAATGGAGAAAACTTTGAATAGATACTTCACGAAAGAAGATATACAAGTGGCCAATAATCACATG... | TAGATATTTCCGTGACTTGGCATAGGCAGATTTTCTTAGGATACAAAAAGCAGTAACTGTAAAAGAAAAAAATTGATAGATTAGATTTAAATTTTTAAACTACTTTTATCAGAAAACACCGCTAGGAAAATGAATAGGAAAGCCACAGACAAGGAGAAAATATTTGCAAAACATAACTGACAAATTACTGATATCTAGGATATGTAAAAAACTTCAATAACTCAATAATAACAAGATGTATTATCCAATTTTGAAAAATGGAGAAAACTTTGAATAGATACTTCACGAAAGAAGATATACAAGTGGCCAATAATCACATG... |
Task1_train_30881 | An alteration has been detected in COL4A5 (collagen type IV alpha 5 chain) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; X-linked Alport syndrome | ATAGATAAAAGCTGGAAATAAAACAGGTTTTTATAAATAGGAAAGTGGATATTTGTAATAACTAAAACCTGTCAATAAACCAAAAGTCCAGCAAGAGGAATGGATTTTTTAAGTTATGGTATATTCATATAATGGAGTCCTACAAATCCTACCAGTATAATATGGTGGTAGTTATTTTTATGTTTATGAATATATAATAATGCCAACTTCAGGATAAATGGTTAAAAACATAAAATTATTATTAAAAATAGCCAACAAACACCAGCATCTTTTGGGTTTCTTTTTGTTCTTCACTGTTTCTATGCTAGCACTATAAATTG... | ATAGATAAAAGCTGGAAATAAAACAGGTTTTTATAAATAGGAAAGTGGATATTTGTAATAACTAAAACCTGTCAATAAACCAAAAGTCCAGCAAGAGGAATGGATTTTTTAAGTTATGGTATATTCATATAATGGAGTCCTACAAATCCTACCAGTATAATATGGTGGTAGTTATTTTTATGTTTATGAATATATAATAATGCCAACTTCAGGATAAATGGTTAAAAACATAAAATTATTATTAAAAATAGCCAACAAACACCAGCATCTTTTGGGTTTCTTTTTGTTCTTCACTGTTTCTATGCTAGCACTATAAATTG... |
Task1_train_30882 | A change on Chromosome X affects gene COL4A5 (collagen type IV alpha 5 chain). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not provided | TAGATAAAAGCTGGAAATAAAACAGGTTTTTATAAATAGGAAAGTGGATATTTGTAATAACTAAAACCTGTCAATAAACCAAAAGTCCAGCAAGAGGAATGGATTTTTTAAGTTATGGTATATTCATATAATGGAGTCCTACAAATCCTACCAGTATAATATGGTGGTAGTTATTTTTATGTTTATGAATATATAATAATGCCAACTTCAGGATAAATGGTTAAAAACATAAAATTATTATTAAAAATAGCCAACAAACACCAGCATCTTTTGGGTTTCTTTTTGTTCTTCACTGTTTCTATGCTAGCACTATAAATTGT... | TAGATAAAAGCTGGAAATAAAACAGGTTTTTATAAATAGGAAAGTGGATATTTGTAATAACTAAAACCTGTCAATAAACCAAAAGTCCAGCAAGAGGAATGGATTTTTTAAGTTATGGTATATTCATATAATGGAGTCCTACAAATCCTACCAGTATAATATGGTGGTAGTTATTTTTATGTTTATGAATATATAATAATGCCAACTTCAGGATAAATGGTTAAAAACATAAAATTATTATTAAAAATAGCCAACAAACACCAGCATCTTTTGGGTTTCTTTTTGTTCTTCACTGTTTCTATGCTAGCACTATAAATTGT... |
Task1_train_30883 | An alteration has been detected in COL4A5 (collagen type IV alpha 5 chain) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | TAGATATTCTGAAACTATATTAAAATGAAGAACTGAAAGGTTTTAGATGCTGAATGACTATTCCTTATTTTCATTATCCTCCTTCATATTTTTATAACATTTTGTGATCCAAAGGAGTGTCTCAAAAGCACCTTGTTTCTTTTGGATAAAGAAGGGAGCATATGGAAGTAAAAGGGAGTTGGAAATTGGAAAACTGGGTGTAACCTGCTGTACTCAATTTTTTAGGTGGTGGAGGTCATCCTGGGCAACCAGGGCCTCCAGGCGAAAAAGGCAAACCCGGTCAAGATGGTATTCCTGGACCAGCTGGACAGAAGGGTGAA... | TAGATATTCTGAAACTATATTAAAATGAAGAACTGAAAGGTTTTAGATGCTGAATGACTATTCCTTATTTTCATTATCCTCCTTCATATTTTTATAACATTTTGTGATCCAAAGGAGTGTCTCAAAAGCACCTTGTTTCTTTTGGATAAAGAAGGGAGCATATGGAAGTAAAAGGGAGTTGGAAATTGGAAAACTGGGTGTAACCTGCTGTACTCAATTTTTTAGGTGGTGGAGGTCATCCTGGGCAACCAGGGCCTCCAGGCGAAAAAGGCAAACCCGGTCAAGATGGTATTCCTGGACCAGCTGGACAGAAGGGTGAA... |
Task1_train_30884 | The gene COL4A5 (collagen type IV alpha 5 chain) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | CTGAAACTATATTAAAATGAAGAACTGAAAGGTTTTAGATGCTGAATGACTATTCCTTATTTTCATTATCCTCCTTCATATTTTTATAACATTTTGTGATCCAAAGGAGTGTCTCAAAAGCACCTTGTTTCTTTTGGATAAAGAAGGGAGCATATGGAAGTAAAAGGGAGTTGGAAATTGGAAAACTGGGTGTAACCTGCTGTACTCAATTTTTTAGGTGGTGGAGGTCATCCTGGGCAACCAGGGCCTCCAGGCGAAAAAGGCAAACCCGGTCAAGATGGTATTCCTGGACCAGCTGGACAGAAGGGTGAACCAGGTGC... | CTGAAACTATATTAAAATGAAGAACTGAAAGGTTTTAGATGCTGAATGACTATTCCTTATTTTCATTATCCTCCTTCATATTTTTATAACATTTTGTGATCCAAAGGAGTGTCTCAAAAGCACCTTGTTTCTTTTGGATAAAGAAGGGAGCATATGGAAGTAAAAGGGAGTTGGAAATTGGAAAACTGGGTGTAACCTGCTGTACTCAATTTTTTAGGTGGTGGAGGTCATCCTGGGCAACCAGGGCCTCCAGGCGAAAAAGGCAAACCCGGTCAAGATGGTATTCCTGGACCAGCTGGACAGAAGGGTGAACCAGGTGC... |
Task1_train_30885 | This genomic variant is located on Chromosome X, within the COL4A5 (collagen type IV alpha 5 chain) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; X-linked Alport syndrome | TGAAACTATATTAAAATGAAGAACTGAAAGGTTTTAGATGCTGAATGACTATTCCTTATTTTCATTATCCTCCTTCATATTTTTATAACATTTTGTGATCCAAAGGAGTGTCTCAAAAGCACCTTGTTTCTTTTGGATAAAGAAGGGAGCATATGGAAGTAAAAGGGAGTTGGAAATTGGAAAACTGGGTGTAACCTGCTGTACTCAATTTTTTAGGTGGTGGAGGTCATCCTGGGCAACCAGGGCCTCCAGGCGAAAAAGGCAAACCCGGTCAAGATGGTATTCCTGGACCAGCTGGACAGAAGGGTGAACCAGGTGCT... | TGAAACTATATTAAAATGAAGAACTGAAAGGTTTTAGATGCTGAATGACTATTCCTTATTTTCATTATCCTCCTTCATATTTTTATAACATTTTGTGATCCAAAGGAGTGTCTCAAAAGCACCTTGTTTCTTTTGGATAAAGAAGGGAGCATATGGAAGTAAAAGGGAGTTGGAAATTGGAAAACTGGGTGTAACCTGCTGTACTCAATTTTTTAGGTGGTGGAGGTCATCCTGGGCAACCAGGGCCTCCAGGCGAAAAAGGCAAACCCGGTCAAGATGGTATTCCTGGACCAGCTGGACAGAAGGGTGAACCAGGTGCT... |
Task1_train_30886 | Given this context: Chromosome X, gene COL4A5 (collagen type IV alpha 5 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Chronic kidney disease | TGAAACTATATTAAAATGAAGAACTGAAAGGTTTTAGATGCTGAATGACTATTCCTTATTTTCATTATCCTCCTTCATATTTTTATAACATTTTGTGATCCAAAGGAGTGTCTCAAAAGCACCTTGTTTCTTTTGGATAAAGAAGGGAGCATATGGAAGTAAAAGGGAGTTGGAAATTGGAAAACTGGGTGTAACCTGCTGTACTCAATTTTTTAGGTGGTGGAGGTCATCCTGGGCAACCAGGGCCTCCAGGCGAAAAAGGCAAACCCGGTCAAGATGGTATTCCTGGACCAGCTGGACAGAAGGGTGAACCAGGTGCT... | TGAAACTATATTAAAATGAAGAACTGAAAGGTTTTAGATGCTGAATGACTATTCCTTATTTTCATTATCCTCCTTCATATTTTTATAACATTTTGTGATCCAAAGGAGTGTCTCAAAAGCACCTTGTTTCTTTTGGATAAAGAAGGGAGCATATGGAAGTAAAAGGGAGTTGGAAATTGGAAAACTGGGTGTAACCTGCTGTACTCAATTTTTTAGGTGGTGGAGGTCATCCTGGGCAACCAGGGCCTCCAGGCGAAAAAGGCAAACCCGGTCAAGATGGTATTCCTGGACCAGCTGGACAGAAGGGTGAACCAGGTGCT... |
Task1_train_30887 | The following genetic variant occurs in COL4A5 (collagen type IV alpha 5 chain) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Elevated mean arterial pressure | TGAAACTATATTAAAATGAAGAACTGAAAGGTTTTAGATGCTGAATGACTATTCCTTATTTTCATTATCCTCCTTCATATTTTTATAACATTTTGTGATCCAAAGGAGTGTCTCAAAAGCACCTTGTTTCTTTTGGATAAAGAAGGGAGCATATGGAAGTAAAAGGGAGTTGGAAATTGGAAAACTGGGTGTAACCTGCTGTACTCAATTTTTTAGGTGGTGGAGGTCATCCTGGGCAACCAGGGCCTCCAGGCGAAAAAGGCAAACCCGGTCAAGATGGTATTCCTGGACCAGCTGGACAGAAGGGTGAACCAGGTGCT... | TGAAACTATATTAAAATGAAGAACTGAAAGGTTTTAGATGCTGAATGACTATTCCTTATTTTCATTATCCTCCTTCATATTTTTATAACATTTTGTGATCCAAAGGAGTGTCTCAAAAGCACCTTGTTTCTTTTGGATAAAGAAGGGAGCATATGGAAGTAAAAGGGAGTTGGAAATTGGAAAACTGGGTGTAACCTGCTGTACTCAATTTTTTAGGTGGTGGAGGTCATCCTGGGCAACCAGGGCCTCCAGGCGAAAAAGGCAAACCCGGTCAAGATGGTATTCCTGGACCAGCTGGACAGAAGGGTGAACCAGGTGCT... |
Task1_train_30888 | The gene COL4A5 (collagen type IV alpha 5 chain) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Microscopic hematuria | TGAAACTATATTAAAATGAAGAACTGAAAGGTTTTAGATGCTGAATGACTATTCCTTATTTTCATTATCCTCCTTCATATTTTTATAACATTTTGTGATCCAAAGGAGTGTCTCAAAAGCACCTTGTTTCTTTTGGATAAAGAAGGGAGCATATGGAAGTAAAAGGGAGTTGGAAATTGGAAAACTGGGTGTAACCTGCTGTACTCAATTTTTTAGGTGGTGGAGGTCATCCTGGGCAACCAGGGCCTCCAGGCGAAAAAGGCAAACCCGGTCAAGATGGTATTCCTGGACCAGCTGGACAGAAGGGTGAACCAGGTGCT... | TGAAACTATATTAAAATGAAGAACTGAAAGGTTTTAGATGCTGAATGACTATTCCTTATTTTCATTATCCTCCTTCATATTTTTATAACATTTTGTGATCCAAAGGAGTGTCTCAAAAGCACCTTGTTTCTTTTGGATAAAGAAGGGAGCATATGGAAGTAAAAGGGAGTTGGAAATTGGAAAACTGGGTGTAACCTGCTGTACTCAATTTTTTAGGTGGTGGAGGTCATCCTGGGCAACCAGGGCCTCCAGGCGAAAAAGGCAAACCCGGTCAAGATGGTATTCCTGGACCAGCTGGACAGAAGGGTGAACCAGGTGCT... |
Task1_train_30889 | This sequence change occurs on Chromosome X, altering COL4A5 (collagen type IV alpha 5 chain). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Alport syndrome | AAGAACTGAAAGGTTTTAGATGCTGAATGACTATTCCTTATTTTCATTATCCTCCTTCATATTTTTATAACATTTTGTGATCCAAAGGAGTGTCTCAAAAGCACCTTGTTTCTTTTGGATAAAGAAGGGAGCATATGGAAGTAAAAGGGAGTTGGAAATTGGAAAACTGGGTGTAACCTGCTGTACTCAATTTTTTAGGTGGTGGAGGTCATCCTGGGCAACCAGGGCCTCCAGGCGAAAAAGGCAAACCCGGTCAAGATGGTATTCCTGGACCAGCTGGACAGAAGGGTGAACCAGGTGCTGTAGTTTTTCATTTTTCC... | AAGAACTGAAAGGTTTTAGATGCTGAATGACTATTCCTTATTTTCATTATCCTCCTTCATATTTTTATAACATTTTGTGATCCAAAGGAGTGTCTCAAAAGCACCTTGTTTCTTTTGGATAAAGAAGGGAGCATATGGAAGTAAAAGGGAGTTGGAAATTGGAAAACTGGGTGTAACCTGCTGTACTCAATTTTTTAGGTGGTGGAGGTCATCCTGGGCAACCAGGGCCTCCAGGCGAAAAAGGCAAACCCGGTCAAGATGGTATTCCTGGACCAGCTGGACAGAAGGGTGAACCAGGTGCTGTAGTTTTTCATTTTTCC... |
Task1_train_30890 | Assess the clinical impact of this variant on gene COL4A5 (collagen type IV alpha 5 chain), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; X-linked Alport syndrome | GATGCTGAATGACTATTCCTTATTTTCATTATCCTCCTTCATATTTTTATAACATTTTGTGATCCAAAGGAGTGTCTCAAAAGCACCTTGTTTCTTTTGGATAAAGAAGGGAGCATATGGAAGTAAAAGGGAGTTGGAAATTGGAAAACTGGGTGTAACCTGCTGTACTCAATTTTTTAGGTGGTGGAGGTCATCCTGGGCAACCAGGGCCTCCAGGCGAAAAAGGCAAACCCGGTCAAGATGGTATTCCTGGACCAGCTGGACAGAAGGGTGAACCAGGTGCTGTAGTTTTTCATTTTTCCTATTTTTCTAATTTTCTC... | GATGCTGAATGACTATTCCTTATTTTCATTATCCTCCTTCATATTTTTATAACATTTTGTGATCCAAAGGAGTGTCTCAAAAGCACCTTGTTTCTTTTGGATAAAGAAGGGAGCATATGGAAGTAAAAGGGAGTTGGAAATTGGAAAACTGGGTGTAACCTGCTGTACTCAATTTTTTAGGTGGTGGAGGTCATCCTGGGCAACCAGGGCCTCCAGGCGAAAAAGGCAAACCCGGTCAAGATGGTATTCCTGGACCAGCTGGACAGAAGGGTGAACCAGGTGCTGTAGTTTTTCATTTTTCCTATTTTTCTAATTTTCTC... |
Task1_train_30891 | This variant affects the gene COL4A5 (collagen type IV alpha 5 chain) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not provided | CTTATTTTCATTATCCTCCTTCATATTTTTATAACATTTTGTGATCCAAAGGAGTGTCTCAAAAGCACCTTGTTTCTTTTGGATAAAGAAGGGAGCATATGGAAGTAAAAGGGAGTTGGAAATTGGAAAACTGGGTGTAACCTGCTGTACTCAATTTTTTAGGTGGTGGAGGTCATCCTGGGCAACCAGGGCCTCCAGGCGAAAAAGGCAAACCCGGTCAAGATGGTATTCCTGGACCAGCTGGACAGAAGGGTGAACCAGGTGCTGTAGTTTTTCATTTTTCCTATTTTTCTAATTTTCTCTGTGTTGAATTTAACTTG... | CTTATTTTCATTATCCTCCTTCATATTTTTATAACATTTTGTGATCCAAAGGAGTGTCTCAAAAGCACCTTGTTTCTTTTGGATAAAGAAGGGAGCATATGGAAGTAAAAGGGAGTTGGAAATTGGAAAACTGGGTGTAACCTGCTGTACTCAATTTTTTAGGTGGTGGAGGTCATCCTGGGCAACCAGGGCCTCCAGGCGAAAAAGGCAAACCCGGTCAAGATGGTATTCCTGGACCAGCTGGACAGAAGGGTGAACCAGGTGCTGTAGTTTTTCATTTTTCCTATTTTTCTAATTTTCTCTGTGTTGAATTTAACTTG... |
Task1_train_30892 | A mutation in COL4A5 (collagen type IV alpha 5 chain), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; X-linked Alport syndrome | CCTTCATATTTTTATAACATTTTGTGATCCAAAGGAGTGTCTCAAAAGCACCTTGTTTCTTTTGGATAAAGAAGGGAGCATATGGAAGTAAAAGGGAGTTGGAAATTGGAAAACTGGGTGTAACCTGCTGTACTCAATTTTTTAGGTGGTGGAGGTCATCCTGGGCAACCAGGGCCTCCAGGCGAAAAAGGCAAACCCGGTCAAGATGGTATTCCTGGACCAGCTGGACAGAAGGGTGAACCAGGTGCTGTAGTTTTTCATTTTTCCTATTTTTCTAATTTTCTCTGTGTTGAATTTAACTTGCCTTTTTATTACCCACA... | CCTTCATATTTTTATAACATTTTGTGATCCAAAGGAGTGTCTCAAAAGCACCTTGTTTCTTTTGGATAAAGAAGGGAGCATATGGAAGTAAAAGGGAGTTGGAAATTGGAAAACTGGGTGTAACCTGCTGTACTCAATTTTTTAGGTGGTGGAGGTCATCCTGGGCAACCAGGGCCTCCAGGCGAAAAAGGCAAACCCGGTCAAGATGGTATTCCTGGACCAGCTGGACAGAAGGGTGAACCAGGTGCTGTAGTTTTTCATTTTTCCTATTTTTCTAATTTTCTCTGTGTTGAATTTAACTTGCCTTTTTATTACCCACA... |
Task1_train_30893 | Given this context: Chromosome X, gene COL4A5 (collagen type IV alpha 5 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; COL4A5-related disorder | CCTTCATATTTTTATAACATTTTGTGATCCAAAGGAGTGTCTCAAAAGCACCTTGTTTCTTTTGGATAAAGAAGGGAGCATATGGAAGTAAAAGGGAGTTGGAAATTGGAAAACTGGGTGTAACCTGCTGTACTCAATTTTTTAGGTGGTGGAGGTCATCCTGGGCAACCAGGGCCTCCAGGCGAAAAAGGCAAACCCGGTCAAGATGGTATTCCTGGACCAGCTGGACAGAAGGGTGAACCAGGTGCTGTAGTTTTTCATTTTTCCTATTTTTCTAATTTTCTCTGTGTTGAATTTAACTTGCCTTTTTATTACCCACA... | CCTTCATATTTTTATAACATTTTGTGATCCAAAGGAGTGTCTCAAAAGCACCTTGTTTCTTTTGGATAAAGAAGGGAGCATATGGAAGTAAAAGGGAGTTGGAAATTGGAAAACTGGGTGTAACCTGCTGTACTCAATTTTTTAGGTGGTGGAGGTCATCCTGGGCAACCAGGGCCTCCAGGCGAAAAAGGCAAACCCGGTCAAGATGGTATTCCTGGACCAGCTGGACAGAAGGGTGAACCAGGTGCTGTAGTTTTTCATTTTTCCTATTTTTCTAATTTTCTCTGTGTTGAATTTAACTTGCCTTTTTATTACCCACA... |
Task1_train_30894 | The gene COL4A5 (collagen type IV alpha 5 chain) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; X-linked Alport syndrome | GTGTCTCAAAAGCACCTTGTTTCTTTTGGATAAAGAAGGGAGCATATGGAAGTAAAAGGGAGTTGGAAATTGGAAAACTGGGTGTAACCTGCTGTACTCAATTTTTTAGGTGGTGGAGGTCATCCTGGGCAACCAGGGCCTCCAGGCGAAAAAGGCAAACCCGGTCAAGATGGTATTCCTGGACCAGCTGGACAGAAGGGTGAACCAGGTGCTGTAGTTTTTCATTTTTCCTATTTTTCTAATTTTCTCTGTGTTGAATTTAACTTGCCTTTTTATTACCCACAGTGAAATTGTATCTTCTTTCTTACTAAGCTACCACA... | GTGTCTCAAAAGCACCTTGTTTCTTTTGGATAAAGAAGGGAGCATATGGAAGTAAAAGGGAGTTGGAAATTGGAAAACTGGGTGTAACCTGCTGTACTCAATTTTTTAGGTGGTGGAGGTCATCCTGGGCAACCAGGGCCTCCAGGCGAAAAAGGCAAACCCGGTCAAGATGGTATTCCTGGACCAGCTGGACAGAAGGGTGAACCAGGTGCTGTAGTTTTTCATTTTTCCTATTTTTCTAATTTTCTCTGTGTTGAATTTAACTTGCCTTTTTATTACCCACAGTGAAATTGTATCTTCTTTCTTACTAAGCTACCACA... |
Task1_train_30895 | Given a variant located on Chromosome X and affecting COL4A5 (collagen type IV alpha 5 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | TGTCTCAAAAGCACCTTGTTTCTTTTGGATAAAGAAGGGAGCATATGGAAGTAAAAGGGAGTTGGAAATTGGAAAACTGGGTGTAACCTGCTGTACTCAATTTTTTAGGTGGTGGAGGTCATCCTGGGCAACCAGGGCCTCCAGGCGAAAAAGGCAAACCCGGTCAAGATGGTATTCCTGGACCAGCTGGACAGAAGGGTGAACCAGGTGCTGTAGTTTTTCATTTTTCCTATTTTTCTAATTTTCTCTGTGTTGAATTTAACTTGCCTTTTTATTACCCACAGTGAAATTGTATCTTCTTTCTTACTAAGCTACCACAC... | TGTCTCAAAAGCACCTTGTTTCTTTTGGATAAAGAAGGGAGCATATGGAAGTAAAAGGGAGTTGGAAATTGGAAAACTGGGTGTAACCTGCTGTACTCAATTTTTTAGGTGGTGGAGGTCATCCTGGGCAACCAGGGCCTCCAGGCGAAAAAGGCAAACCCGGTCAAGATGGTATTCCTGGACCAGCTGGACAGAAGGGTGAACCAGGTGCTGTAGTTTTTCATTTTTCCTATTTTTCTAATTTTCTCTGTGTTGAATTTAACTTGCCTTTTTATTACCCACAGTGAAATTGTATCTTCTTTCTTACTAAGCTACCACAC... |
Task1_train_30896 | This alteration occurs within gene COL4A5 (collagen type IV alpha 5 chain) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; X-linked Alport syndrome | AGCACCTTGTTTCTTTTGGATAAAGAAGGGAGCATATGGAAGTAAAAGGGAGTTGGAAATTGGAAAACTGGGTGTAACCTGCTGTACTCAATTTTTTAGGTGGTGGAGGTCATCCTGGGCAACCAGGGCCTCCAGGCGAAAAAGGCAAACCCGGTCAAGATGGTATTCCTGGACCAGCTGGACAGAAGGGTGAACCAGGTGCTGTAGTTTTTCATTTTTCCTATTTTTCTAATTTTCTCTGTGTTGAATTTAACTTGCCTTTTTATTACCCACAGTGAAATTGTATCTTCTTTCTTACTAAGCTACCACACACTTTCCCC... | AGCACCTTGTTTCTTTTGGATAAAGAAGGGAGCATATGGAAGTAAAAGGGAGTTGGAAATTGGAAAACTGGGTGTAACCTGCTGTACTCAATTTTTTAGGTGGTGGAGGTCATCCTGGGCAACCAGGGCCTCCAGGCGAAAAAGGCAAACCCGGTCAAGATGGTATTCCTGGACCAGCTGGACAGAAGGGTGAACCAGGTGCTGTAGTTTTTCATTTTTCCTATTTTTCTAATTTTCTCTGTGTTGAATTTAACTTGCCTTTTTATTACCCACAGTGAAATTGTATCTTCTTTCTTACTAAGCTACCACACACTTTCCCC... |
Task1_train_30897 | This genomic variant is located on Chromosome X, within the COL4A5 (collagen type IV alpha 5 chain) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; X-linked Alport syndrome | GTAAAAGGGAGTTGGAAATTGGAAAACTGGGTGTAACCTGCTGTACTCAATTTTTTAGGTGGTGGAGGTCATCCTGGGCAACCAGGGCCTCCAGGCGAAAAAGGCAAACCCGGTCAAGATGGTATTCCTGGACCAGCTGGACAGAAGGGTGAACCAGGTGCTGTAGTTTTTCATTTTTCCTATTTTTCTAATTTTCTCTGTGTTGAATTTAACTTGCCTTTTTATTACCCACAGTGAAATTGTATCTTCTTTCTTACTAAGCTACCACACACTTTCCCCTTTTCCTAGTTACCGTCTTCCTCTTCATCCTGAGACTATTA... | GTAAAAGGGAGTTGGAAATTGGAAAACTGGGTGTAACCTGCTGTACTCAATTTTTTAGGTGGTGGAGGTCATCCTGGGCAACCAGGGCCTCCAGGCGAAAAAGGCAAACCCGGTCAAGATGGTATTCCTGGACCAGCTGGACAGAAGGGTGAACCAGGTGCTGTAGTTTTTCATTTTTCCTATTTTTCTAATTTTCTCTGTGTTGAATTTAACTTGCCTTTTTATTACCCACAGTGAAATTGTATCTTCTTTCTTACTAAGCTACCACACACTTTCCCCTTTTCCTAGTTACCGTCTTCCTCTTCATCCTGAGACTATTA... |
Task1_train_30898 | The following genetic variant occurs in COL4A5 (collagen type IV alpha 5 chain) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | GTTGGAAATTGGAAAACTGGGTGTAACCTGCTGTACTCAATTTTTTAGGTGGTGGAGGTCATCCTGGGCAACCAGGGCCTCCAGGCGAAAAAGGCAAACCCGGTCAAGATGGTATTCCTGGACCAGCTGGACAGAAGGGTGAACCAGGTGCTGTAGTTTTTCATTTTTCCTATTTTTCTAATTTTCTCTGTGTTGAATTTAACTTGCCTTTTTATTACCCACAGTGAAATTGTATCTTCTTTCTTACTAAGCTACCACACACTTTCCCCTTTTCCTAGTTACCGTCTTCCTCTTCATCCTGAGACTATTAGCTCATGTAT... | GTTGGAAATTGGAAAACTGGGTGTAACCTGCTGTACTCAATTTTTTAGGTGGTGGAGGTCATCCTGGGCAACCAGGGCCTCCAGGCGAAAAAGGCAAACCCGGTCAAGATGGTATTCCTGGACCAGCTGGACAGAAGGGTGAACCAGGTGCTGTAGTTTTTCATTTTTCCTATTTTTCTAATTTTCTCTGTGTTGAATTTAACTTGCCTTTTTATTACCCACAGTGAAATTGTATCTTCTTTCTTACTAAGCTACCACACACTTTCCCCTTTTCCTAGTTACCGTCTTCCTCTTCATCCTGAGACTATTAGCTCATGTAT... |
Task1_train_30899 | A variant was discovered on Chromosome X, affecting COL4A5 (collagen type IV alpha 5 chain). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | CAAATCATACATTGTGGATTAAATTGACAAGTTTGCTTAGAACACTGAAGTTCTGTTTTTTTATTCAAATGTACAATGTACTAAACCTTTTCGTTATGATTGAGAAGGGAATTTCTGTGTTGACTGGTTGCCAGCCTAGGGTGACTATATGAGTTAAATTGTTTAAATGTAAAACAATTGTTGTACTATTGTAAATCTCCTTCCTCTTTCTCATATGCCAGATAGAGTCATGTTATATTATGAAATTACATAGAAATACCTGAAAGATTAAAAAGATGCTCATATTTTAAGATTTGTTTTTATCTTCAATTTTACTAATA... | CAAATCATACATTGTGGATTAAATTGACAAGTTTGCTTAGAACACTGAAGTTCTGTTTTTTTATTCAAATGTACAATGTACTAAACCTTTTCGTTATGATTGAGAAGGGAATTTCTGTGTTGACTGGTTGCCAGCCTAGGGTGACTATATGAGTTAAATTGTTTAAATGTAAAACAATTGTTGTACTATTGTAAATCTCCTTCCTCTTTCTCATATGCCAGATAGAGTCATGTTATATTATGAAATTACATAGAAATACCTGAAAGATTAAAAAGATGCTCATATTTTAAGATTTGTTTTTATCTTCAATTTTACTAATA... |
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