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_30700 | A sequence alteration has been identified in HNRNPH2, RPL36A-HNRNPH2 (heterogeneous nuclear ribonucleoprotein H2| RPL36A-HNRNPH2 readthrough) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; HNRNPH2-related disorder | GCAGATTCCACTTTTTTTGGTATGTGTAGATACATCTTTTCTCCATTTTACTCCTGTTGCCTTAGGCGATTCCTTTAACATATATTTATGAGACAAGTTCTAACTAATCTCCCTAGTTCCACGTCGACCCCCTTCTGTTTGAGTGCCACGCTGTTGCCAGGGTGATCTGTCTGAAAGAGTTTTGGTGAAGTCACCCTACATACTCCCCGGTTTAAAAGTCTTAAAAGGCGCTTAGTGTTTGTATATCAAAGTCTTTGGGATCTGATCTATGCCTTGCCAGTCTTTTCACTTGCTTTTCCCTCTCCTATTTGTGCTTCATC... | GCAGATTCCACTTTTTTTGGTATGTGTAGATACATCTTTTCTCCATTTTACTCCTGTTGCCTTAGGCGATTCCTTTAACATATATTTATGAGACAAGTTCTAACTAATCTCCCTAGTTCCACGTCGACCCCCTTCTGTTTGAGTGCCACGCTGTTGCCAGGGTGATCTGTCTGAAAGAGTTTTGGTGAAGTCACCCTACATACTCCCCGGTTTAAAAGTCTTAAAAGGCGCTTAGTGTTTGTATATCAAAGTCTTTGGGATCTGATCTATGCCTTGCCAGTCTTTTCACTTGCTTTTCCCTCTCCTATTTGTGCTTCATC... |
Task1_train_30701 | Here is a mutation in HNRNPH2, RPL36A-HNRNPH2 (heterogeneous nuclear ribonucleoprotein H2| RPL36A-HNRNPH2 readthrough) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | ACTTTTTTTGGTATGTGTAGATACATCTTTTCTCCATTTTACTCCTGTTGCCTTAGGCGATTCCTTTAACATATATTTATGAGACAAGTTCTAACTAATCTCCCTAGTTCCACGTCGACCCCCTTCTGTTTGAGTGCCACGCTGTTGCCAGGGTGATCTGTCTGAAAGAGTTTTGGTGAAGTCACCCTACATACTCCCCGGTTTAAAAGTCTTAAAAGGCGCTTAGTGTTTGTATATCAAAGTCTTTGGGATCTGATCTATGCCTTGCCAGTCTTTTCACTTGCTTTTCCCTCTCCTATTTGTGCTTCATCATAATTAAG... | ACTTTTTTTGGTATGTGTAGATACATCTTTTCTCCATTTTACTCCTGTTGCCTTAGGCGATTCCTTTAACATATATTTATGAGACAAGTTCTAACTAATCTCCCTAGTTCCACGTCGACCCCCTTCTGTTTGAGTGCCACGCTGTTGCCAGGGTGATCTGTCTGAAAGAGTTTTGGTGAAGTCACCCTACATACTCCCCGGTTTAAAAGTCTTAAAAGGCGCTTAGTGTTTGTATATCAAAGTCTTTGGGATCTGATCTATGCCTTGCCAGTCTTTTCACTTGCTTTTCCCTCTCCTATTTGTGCTTCATCATAATTAAG... |
Task1_train_30702 | Here is a genetic alteration in PLP1, RAB9B (proteolipid protein 1| RAB9B, member RAS oncogene family) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Pelizaeus-Merzbacher disease | GAAGGATCATTTGCCTCATCCTCTAAATCTGAACTCCCAAAGTTTGGGCTCACTCCTGCCATCTGATGAGCTGAGGAGACACATTTGGCGATTTCTTGCTCTTGGTCCTCCCCCTTCTCCAGGGCCATTCCGACAGTGACCATCCAGAAGTTTATTGCTGGCTCAATCCTACAGTTGAGCTTCCAAAGCAGGCATAGTCTGTGGCTGGCGAGCAGGGCTGGGGAGGGCGAGGGGCTCTAGGACCCTTTTCCATCAGTCACATGGCCTTAGTCTCGTCTGCTCTGGAAAGCTACTATTATACCGTTTTGCAAGGGGCAGCA... | GAAGGATCATTTGCCTCATCCTCTAAATCTGAACTCCCAAAGTTTGGGCTCACTCCTGCCATCTGATGAGCTGAGGAGACACATTTGGCGATTTCTTGCTCTTGGTCCTCCCCCTTCTCCAGGGCCATTCCGACAGTGACCATCCAGAAGTTTATTGCTGGCTCAATCCTACAGTTGAGCTTCCAAAGCAGGCATAGTCTGTGGCTGGCGAGCAGGGCTGGGGAGGGCGAGGGGCTCTAGGACCCTTTTCCATCAGTCACATGGCCTTAGTCTCGTCTGCTCTGGAAAGCTACTATTATACCGTTTTGCAAGGGGCAGCA... |
Task1_train_30703 | An alteration has been detected in PLP1, RAB9B (proteolipid protein 1| RAB9B, member RAS oncogene family) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hereditary spastic paraplegia 2 | GAAGGATCATTTGCCTCATCCTCTAAATCTGAACTCCCAAAGTTTGGGCTCACTCCTGCCATCTGATGAGCTGAGGAGACACATTTGGCGATTTCTTGCTCTTGGTCCTCCCCCTTCTCCAGGGCCATTCCGACAGTGACCATCCAGAAGTTTATTGCTGGCTCAATCCTACAGTTGAGCTTCCAAAGCAGGCATAGTCTGTGGCTGGCGAGCAGGGCTGGGGAGGGCGAGGGGCTCTAGGACCCTTTTCCATCAGTCACATGGCCTTAGTCTCGTCTGCTCTGGAAAGCTACTATTATACCGTTTTGCAAGGGGCAGCA... | GAAGGATCATTTGCCTCATCCTCTAAATCTGAACTCCCAAAGTTTGGGCTCACTCCTGCCATCTGATGAGCTGAGGAGACACATTTGGCGATTTCTTGCTCTTGGTCCTCCCCCTTCTCCAGGGCCATTCCGACAGTGACCATCCAGAAGTTTATTGCTGGCTCAATCCTACAGTTGAGCTTCCAAAGCAGGCATAGTCTGTGGCTGGCGAGCAGGGCTGGGGAGGGCGAGGGGCTCTAGGACCCTTTTCCATCAGTCACATGGCCTTAGTCTCGTCTGCTCTGGAAAGCTACTATTATACCGTTTTGCAAGGGGCAGCA... |
Task1_train_30704 | This alteration occurs within gene PLP1, RAB9B (proteolipid protein 1| RAB9B, member RAS oncogene family) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; Inborn genetic diseases | AAGGATCATTTGCCTCATCCTCTAAATCTGAACTCCCAAAGTTTGGGCTCACTCCTGCCATCTGATGAGCTGAGGAGACACATTTGGCGATTTCTTGCTCTTGGTCCTCCCCCTTCTCCAGGGCCATTCCGACAGTGACCATCCAGAAGTTTATTGCTGGCTCAATCCTACAGTTGAGCTTCCAAAGCAGGCATAGTCTGTGGCTGGCGAGCAGGGCTGGGGAGGGCGAGGGGCTCTAGGACCCTTTTCCATCAGTCACATGGCCTTAGTCTCGTCTGCTCTGGAAAGCTACTATTATACCGTTTTGCAAGGGGCAGCAT... | AAGGATCATTTGCCTCATCCTCTAAATCTGAACTCCCAAAGTTTGGGCTCACTCCTGCCATCTGATGAGCTGAGGAGACACATTTGGCGATTTCTTGCTCTTGGTCCTCCCCCTTCTCCAGGGCCATTCCGACAGTGACCATCCAGAAGTTTATTGCTGGCTCAATCCTACAGTTGAGCTTCCAAAGCAGGCATAGTCTGTGGCTGGCGAGCAGGGCTGGGGAGGGCGAGGGGCTCTAGGACCCTTTTCCATCAGTCACATGGCCTTAGTCTCGTCTGCTCTGGAAAGCTACTATTATACCGTTTTGCAAGGGGCAGCAT... |
Task1_train_30705 | With a mutation on Chromosome X in gene PLP1, RAB9B (proteolipid protein 1| RAB9B, member RAS oncogene family), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Hereditary spastic paraplegia 2 | AAGGATCATTTGCCTCATCCTCTAAATCTGAACTCCCAAAGTTTGGGCTCACTCCTGCCATCTGATGAGCTGAGGAGACACATTTGGCGATTTCTTGCTCTTGGTCCTCCCCCTTCTCCAGGGCCATTCCGACAGTGACCATCCAGAAGTTTATTGCTGGCTCAATCCTACAGTTGAGCTTCCAAAGCAGGCATAGTCTGTGGCTGGCGAGCAGGGCTGGGGAGGGCGAGGGGCTCTAGGACCCTTTTCCATCAGTCACATGGCCTTAGTCTCGTCTGCTCTGGAAAGCTACTATTATACCGTTTTGCAAGGGGCAGCAT... | AAGGATCATTTGCCTCATCCTCTAAATCTGAACTCCCAAAGTTTGGGCTCACTCCTGCCATCTGATGAGCTGAGGAGACACATTTGGCGATTTCTTGCTCTTGGTCCTCCCCCTTCTCCAGGGCCATTCCGACAGTGACCATCCAGAAGTTTATTGCTGGCTCAATCCTACAGTTGAGCTTCCAAAGCAGGCATAGTCTGTGGCTGGCGAGCAGGGCTGGGGAGGGCGAGGGGCTCTAGGACCCTTTTCCATCAGTCACATGGCCTTAGTCTCGTCTGCTCTGGAAAGCTACTATTATACCGTTTTGCAAGGGGCAGCAT... |
Task1_train_30706 | The gene PLP1, RAB9B (proteolipid protein 1| RAB9B, member RAS oncogene family) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Pelizaeus-Merzbacher disease | AAGGATCATTTGCCTCATCCTCTAAATCTGAACTCCCAAAGTTTGGGCTCACTCCTGCCATCTGATGAGCTGAGGAGACACATTTGGCGATTTCTTGCTCTTGGTCCTCCCCCTTCTCCAGGGCCATTCCGACAGTGACCATCCAGAAGTTTATTGCTGGCTCAATCCTACAGTTGAGCTTCCAAAGCAGGCATAGTCTGTGGCTGGCGAGCAGGGCTGGGGAGGGCGAGGGGCTCTAGGACCCTTTTCCATCAGTCACATGGCCTTAGTCTCGTCTGCTCTGGAAAGCTACTATTATACCGTTTTGCAAGGGGCAGCAT... | AAGGATCATTTGCCTCATCCTCTAAATCTGAACTCCCAAAGTTTGGGCTCACTCCTGCCATCTGATGAGCTGAGGAGACACATTTGGCGATTTCTTGCTCTTGGTCCTCCCCCTTCTCCAGGGCCATTCCGACAGTGACCATCCAGAAGTTTATTGCTGGCTCAATCCTACAGTTGAGCTTCCAAAGCAGGCATAGTCTGTGGCTGGCGAGCAGGGCTGGGGAGGGCGAGGGGCTCTAGGACCCTTTTCCATCAGTCACATGGCCTTAGTCTCGTCTGCTCTGGAAAGCTACTATTATACCGTTTTGCAAGGGGCAGCAT... |
Task1_train_30707 | A variant affecting Chromosome X, within the gene PLP1, RAB9B (proteolipid protein 1| RAB9B, member RAS oncogene family), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hereditary spastic paraplegia 2 | AAGGATCATTTGCCTCATCCTCTAAATCTGAACTCCCAAAGTTTGGGCTCACTCCTGCCATCTGATGAGCTGAGGAGACACATTTGGCGATTTCTTGCTCTTGGTCCTCCCCCTTCTCCAGGGCCATTCCGACAGTGACCATCCAGAAGTTTATTGCTGGCTCAATCCTACAGTTGAGCTTCCAAAGCAGGCATAGTCTGTGGCTGGCGAGCAGGGCTGGGGAGGGCGAGGGGCTCTAGGACCCTTTTCCATCAGTCACATGGCCTTAGTCTCGTCTGCTCTGGAAAGCTACTATTATACCGTTTTGCAAGGGGCAGCAT... | AAGGATCATTTGCCTCATCCTCTAAATCTGAACTCCCAAAGTTTGGGCTCACTCCTGCCATCTGATGAGCTGAGGAGACACATTTGGCGATTTCTTGCTCTTGGTCCTCCCCCTTCTCCAGGGCCATTCCGACAGTGACCATCCAGAAGTTTATTGCTGGCTCAATCCTACAGTTGAGCTTCCAAAGCAGGCATAGTCTGTGGCTGGCGAGCAGGGCTGGGGAGGGCGAGGGGCTCTAGGACCCTTTTCCATCAGTCACATGGCCTTAGTCTCGTCTGCTCTGGAAAGCTACTATTATACCGTTTTGCAAGGGGCAGCAT... |
Task1_train_30708 | Here’s a variant in PLP1, RAB9B (proteolipid protein 1| RAB9B, member RAS oncogene family) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Inborn genetic diseases | AAGGATCATTTGCCTCATCCTCTAAATCTGAACTCCCAAAGTTTGGGCTCACTCCTGCCATCTGATGAGCTGAGGAGACACATTTGGCGATTTCTTGCTCTTGGTCCTCCCCCTTCTCCAGGGCCATTCCGACAGTGACCATCCAGAAGTTTATTGCTGGCTCAATCCTACAGTTGAGCTTCCAAAGCAGGCATAGTCTGTGGCTGGCGAGCAGGGCTGGGGAGGGCGAGGGGCTCTAGGACCCTTTTCCATCAGTCACATGGCCTTAGTCTCGTCTGCTCTGGAAAGCTACTATTATACCGTTTTGCAAGGGGCAGCAT... | AAGGATCATTTGCCTCATCCTCTAAATCTGAACTCCCAAAGTTTGGGCTCACTCCTGCCATCTGATGAGCTGAGGAGACACATTTGGCGATTTCTTGCTCTTGGTCCTCCCCCTTCTCCAGGGCCATTCCGACAGTGACCATCCAGAAGTTTATTGCTGGCTCAATCCTACAGTTGAGCTTCCAAAGCAGGCATAGTCTGTGGCTGGCGAGCAGGGCTGGGGAGGGCGAGGGGCTCTAGGACCCTTTTCCATCAGTCACATGGCCTTAGTCTCGTCTGCTCTGGAAAGCTACTATTATACCGTTTTGCAAGGGGCAGCAT... |
Task1_train_30709 | A mutation in RAB9B, PLP1 (RAB9B, member RAS oncogene family| proteolipid protein 1), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hereditary spastic paraplegia 2 | AGGATCATTTGCCTCATCCTCTAAATCTGAACTCCCAAAGTTTGGGCTCACTCCTGCCATCTGATGAGCTGAGGAGACACATTTGGCGATTTCTTGCTCTTGGTCCTCCCCCTTCTCCAGGGCCATTCCGACAGTGACCATCCAGAAGTTTATTGCTGGCTCAATCCTACAGTTGAGCTTCCAAAGCAGGCATAGTCTGTGGCTGGCGAGCAGGGCTGGGGAGGGCGAGGGGCTCTAGGACCCTTTTCCATCAGTCACATGGCCTTAGTCTCGTCTGCTCTGGAAAGCTACTATTATACCGTTTTGCAAGGGGCAGCATT... | AGGATCATTTGCCTCATCCTCTAAATCTGAACTCCCAAAGTTTGGGCTCACTCCTGCCATCTGATGAGCTGAGGAGACACATTTGGCGATTTCTTGCTCTTGGTCCTCCCCCTTCTCCAGGGCCATTCCGACAGTGACCATCCAGAAGTTTATTGCTGGCTCAATCCTACAGTTGAGCTTCCAAAGCAGGCATAGTCTGTGGCTGGCGAGCAGGGCTGGGGAGGGCGAGGGGCTCTAGGACCCTTTTCCATCAGTCACATGGCCTTAGTCTCGTCTGCTCTGGAAAGCTACTATTATACCGTTTTGCAAGGGGCAGCATT... |
Task1_train_30710 | The following genetic variant occurs in PLP1, RAB9B (proteolipid protein 1| RAB9B, member RAS oncogene family) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Pelizaeus-Merzbacher disease | TCTACCTCGATTTTCCCATGACAGAGATAATTTGATCTTTCCAAATCTGTTCACACTGATGCAATTCAGCCATGTAAATCACTAGGTATTCATGCTCTCTGGGCTAAAAACAAACTGTAACTAATGTTAACAGAATCAGGAAAAGGAGTCCCCTTTCCCTGGTACCCTATAGAAAAGTGAGTGTGGCTTGGAGAAATGCTTGAATACAAAAATCCAAGCCTAAGTAATTAATACAATTTATTTTTATTGTACAAGCTGTCACAACCTGCTTATTCAAAAATAGCAGCTTCCCAGTACATTTGCTGAGTATTTGTGTGTGT... | TCTACCTCGATTTTCCCATGACAGAGATAATTTGATCTTTCCAAATCTGTTCACACTGATGCAATTCAGCCATGTAAATCACTAGGTATTCATGCTCTCTGGGCTAAAAACAAACTGTAACTAATGTTAACAGAATCAGGAAAAGGAGTCCCCTTTCCCTGGTACCCTATAGAAAAGTGAGTGTGGCTTGGAGAAATGCTTGAATACAAAAATCCAAGCCTAAGTAATTAATACAATTTATTTTTATTGTACAAGCTGTCACAACCTGCTTATTCAAAAATAGCAGCTTCCCAGTACATTTGCTGAGTATTTGTGTGTGT... |
Task1_train_30711 | A genetic alteration is present in PLP1, RAB9B (proteolipid protein 1| RAB9B, member RAS oncogene family) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hereditary spastic paraplegia 2 | TCTACCTCGATTTTCCCATGACAGAGATAATTTGATCTTTCCAAATCTGTTCACACTGATGCAATTCAGCCATGTAAATCACTAGGTATTCATGCTCTCTGGGCTAAAAACAAACTGTAACTAATGTTAACAGAATCAGGAAAAGGAGTCCCCTTTCCCTGGTACCCTATAGAAAAGTGAGTGTGGCTTGGAGAAATGCTTGAATACAAAAATCCAAGCCTAAGTAATTAATACAATTTATTTTTATTGTACAAGCTGTCACAACCTGCTTATTCAAAAATAGCAGCTTCCCAGTACATTTGCTGAGTATTTGTGTGTGT... | TCTACCTCGATTTTCCCATGACAGAGATAATTTGATCTTTCCAAATCTGTTCACACTGATGCAATTCAGCCATGTAAATCACTAGGTATTCATGCTCTCTGGGCTAAAAACAAACTGTAACTAATGTTAACAGAATCAGGAAAAGGAGTCCCCTTTCCCTGGTACCCTATAGAAAAGTGAGTGTGGCTTGGAGAAATGCTTGAATACAAAAATCCAAGCCTAAGTAATTAATACAATTTATTTTTATTGTACAAGCTGTCACAACCTGCTTATTCAAAAATAGCAGCTTCCCAGTACATTTGCTGAGTATTTGTGTGTGT... |
Task1_train_30712 | This variant impacts the gene RAB9B, PLP1 (RAB9B, member RAS oncogene family| proteolipid protein 1) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Pelizaeus-Merzbacher disease | GGTATTCATGCTCTCTGGGCTAAAAACAAACTGTAACTAATGTTAACAGAATCAGGAAAAGGAGTCCCCTTTCCCTGGTACCCTATAGAAAAGTGAGTGTGGCTTGGAGAAATGCTTGAATACAAAAATCCAAGCCTAAGTAATTAATACAATTTATTTTTATTGTACAAGCTGTCACAACCTGCTTATTCAAAAATAGCAGCTTCCCAGTACATTTGCTGAGTATTTGTGTGTGTGCATGTGTATACTGTGTTTATAGATATATAAAATCAGTGGGTATATATACATATATTTATATATATACATACATATGAATTAAG... | GGTATTCATGCTCTCTGGGCTAAAAACAAACTGTAACTAATGTTAACAGAATCAGGAAAAGGAGTCCCCTTTCCCTGGTACCCTATAGAAAAGTGAGTGTGGCTTGGAGAAATGCTTGAATACAAAAATCCAAGCCTAAGTAATTAATACAATTTATTTTTATTGTACAAGCTGTCACAACCTGCTTATTCAAAAATAGCAGCTTCCCAGTACATTTGCTGAGTATTTGTGTGTGTGCATGTGTATACTGTGTTTATAGATATATAAAATCAGTGGGTATATATACATATATTTATATATATACATACATATGAATTAAG... |
Task1_train_30713 | This alteration occurs within gene PLP1, RAB9B (proteolipid protein 1| RAB9B, member RAS oncogene family) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; Pelizaeus-Merzbacher disease | GTTAACAGAATCAGGAAAAGGAGTCCCCTTTCCCTGGTACCCTATAGAAAAGTGAGTGTGGCTTGGAGAAATGCTTGAATACAAAAATCCAAGCCTAAGTAATTAATACAATTTATTTTTATTGTACAAGCTGTCACAACCTGCTTATTCAAAAATAGCAGCTTCCCAGTACATTTGCTGAGTATTTGTGTGTGTGCATGTGTATACTGTGTTTATAGATATATAAAATCAGTGGGTATATATACATATATTTATATATATACATACATATGAATTAAGACATTTTTTCTGAAGAGCTTAACATTCTCATTTCTTCTACA... | GTTAACAGAATCAGGAAAAGGAGTCCCCTTTCCCTGGTACCCTATAGAAAAGTGAGTGTGGCTTGGAGAAATGCTTGAATACAAAAATCCAAGCCTAAGTAATTAATACAATTTATTTTTATTGTACAAGCTGTCACAACCTGCTTATTCAAAAATAGCAGCTTCCCAGTACATTTGCTGAGTATTTGTGTGTGTGCATGTGTATACTGTGTTTATAGATATATAAAATCAGTGGGTATATATACATATATTTATATATATACATACATATGAATTAAGACATTTTTTCTGAAGAGCTTAACATTCTCATTTCTTCTACA... |
Task1_train_30714 | This sequence change occurs on Chromosome X, altering PLP1, RAB9B (proteolipid protein 1| RAB9B, member RAS oncogene family). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Pelizaeus-Merzbacher disease | ACAGAATCAGGAAAAGGAGTCCCCTTTCCCTGGTACCCTATAGAAAAGTGAGTGTGGCTTGGAGAAATGCTTGAATACAAAAATCCAAGCCTAAGTAATTAATACAATTTATTTTTATTGTACAAGCTGTCACAACCTGCTTATTCAAAAATAGCAGCTTCCCAGTACATTTGCTGAGTATTTGTGTGTGTGCATGTGTATACTGTGTTTATAGATATATAAAATCAGTGGGTATATATACATATATTTATATATATACATACATATGAATTAAGACATTTTTTCTGAAGAGCTTAACATTCTCATTTCTTCTACATTTT... | ACAGAATCAGGAAAAGGAGTCCCCTTTCCCTGGTACCCTATAGAAAAGTGAGTGTGGCTTGGAGAAATGCTTGAATACAAAAATCCAAGCCTAAGTAATTAATACAATTTATTTTTATTGTACAAGCTGTCACAACCTGCTTATTCAAAAATAGCAGCTTCCCAGTACATTTGCTGAGTATTTGTGTGTGTGCATGTGTATACTGTGTTTATAGATATATAAAATCAGTGGGTATATATACATATATTTATATATATACATACATATGAATTAAGACATTTTTTCTGAAGAGCTTAACATTCTCATTTCTTCTACATTTT... |
Task1_train_30715 | The following genetic variant occurs in PLP1, RAB9B (proteolipid protein 1| RAB9B, member RAS oncogene family) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Pelizaeus-Merzbacher disease | AGCCTGCATTTTTATTATTGGGAGTAATATCAAACCTCCTATTTTCCAATTTTCATTTCTTGTCCTGTGCTAGCTCCATCCTGTTTGGACTGCTCCTCCCATATGTAAACTAAGAAGAATCAAGCATTCTTTGCAACAAATACACACGATGCTCAAAAATGTCCAGGAGCATCCAATTTCCAAAGTTTCCTCCACCTGGAATGCTCTTCATGCTAAAATCCTGTCTGACAATACCAGCATCTCTGGCCTGCACTCATCCCTTCCTGGAACTCCAAGTGCATTTACCCTCTGTTACCACTTACTTGGCTGCCTGAATTGTT... | AGCCTGCATTTTTATTATTGGGAGTAATATCAAACCTCCTATTTTCCAATTTTCATTTCTTGTCCTGTGCTAGCTCCATCCTGTTTGGACTGCTCCTCCCATATGTAAACTAAGAAGAATCAAGCATTCTTTGCAACAAATACACACGATGCTCAAAAATGTCCAGGAGCATCCAATTTCCAAAGTTTCCTCCACCTGGAATGCTCTTCATGCTAAAATCCTGTCTGACAATACCAGCATCTCTGGCCTGCACTCATCCCTTCCTGGAACTCCAAGTGCATTTACCCTCTGTTACCACTTACTTGGCTGCCTGAATTGTT... |
Task1_train_30716 | This sequence variant lies in PLP1, RAB9B (proteolipid protein 1| RAB9B, member RAS oncogene family) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Pelizaeus-Merzbacher disease | GAATGCTCTTCATGCTAAAATCCTGTCTGACAATACCAGCATCTCTGGCCTGCACTCATCCCTTCCTGGAACTCCAAGTGCATTTACCCTCTGTTACCACTTACTTGGCTGCCTGAATTGTTAGTTGAAAATATTAGGTCTACTTAGCTAATTCTTCCTCAGGAAATTAAAGACTCCCATATGGCAGAGTCTGTGTCTTTTCTCTCTTCATATCCCGTATAACACCCAGCATAATGCTGGGCATATAGTGAGTATTCCATAAATAGTTGATGAATGACTAAAATAAGCAAGCAAACAAACAGACTAGAACAATAAGAAAG... | GAATGCTCTTCATGCTAAAATCCTGTCTGACAATACCAGCATCTCTGGCCTGCACTCATCCCTTCCTGGAACTCCAAGTGCATTTACCCTCTGTTACCACTTACTTGGCTGCCTGAATTGTTAGTTGAAAATATTAGGTCTACTTAGCTAATTCTTCCTCAGGAAATTAAAGACTCCCATATGGCAGAGTCTGTGTCTTTTCTCTCTTCATATCCCGTATAACACCCAGCATAATGCTGGGCATATAGTGAGTATTCCATAAATAGTTGATGAATGACTAAAATAAGCAAGCAAACAAACAGACTAGAACAATAAGAAAG... |
Task1_train_30717 | Here is a mutation in PLP1, RAB9B (proteolipid protein 1| RAB9B, member RAS oncogene family) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Pelizaeus-Merzbacher disease | CAATGTGTAAGTACCTGCCCTCCCACACAGACCCATCTTTTTTTTCCCTCTCTCCATCCTGGAGATAGAGAACTCTTCAGTACCTTAGTAACTAGCAGGGGACTGGGGTGGAGCCAGACCGGATTCCCGAGTCTTCCCTCTGTGCAGATCTCTCCTGCTCCACATTCGAAGCCCATTCAGAAAGGAGGGGTCTGCCTGCCTGCCTGTCAGCCCCTCCCACCCCCGCCCCCTTGTTTTCTTACACGTGTTCTGACTTCTGCTAGGTGTGGTTCATATTGCCCAAGTTGGAGCCTCCAGCGTAGTAGGTATGGAGAAGCCAA... | CAATGTGTAAGTACCTGCCCTCCCACACAGACCCATCTTTTTTTTCCCTCTCTCCATCCTGGAGATAGAGAACTCTTCAGTACCTTAGTAACTAGCAGGGGACTGGGGTGGAGCCAGACCGGATTCCCGAGTCTTCCCTCTGTGCAGATCTCTCCTGCTCCACATTCGAAGCCCATTCAGAAAGGAGGGGTCTGCCTGCCTGCCTGTCAGCCCCTCCCACCCCCGCCCCCTTGTTTTCTTACACGTGTTCTGACTTCTGCTAGGTGTGGTTCATATTGCCCAAGTTGGAGCCTCCAGCGTAGTAGGTATGGAGAAGCCAA... |
Task1_train_30718 | Here is a genetic alteration in PLP1, RAB9B (proteolipid protein 1| RAB9B, member RAS oncogene family) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Pelizaeus-Merzbacher disease | CAGTACCTTAGTAACTAGCAGGGGACTGGGGTGGAGCCAGACCGGATTCCCGAGTCTTCCCTCTGTGCAGATCTCTCCTGCTCCACATTCGAAGCCCATTCAGAAAGGAGGGGTCTGCCTGCCTGCCTGTCAGCCCCTCCCACCCCCGCCCCCTTGTTTTCTTACACGTGTTCTGACTTCTGCTAGGTGTGGTTCATATTGCCCAAGTTGGAGCCTCCAGCGTAGTAGGTATGGAGAAGCCAAGGGAGGCACTAAGCCTCTCCTGTTCCTAGAACAAGTTAGGCTCCTGTTCCTTCACCCACCTTTCTTCTTGTCTAGCT... | CAGTACCTTAGTAACTAGCAGGGGACTGGGGTGGAGCCAGACCGGATTCCCGAGTCTTCCCTCTGTGCAGATCTCTCCTGCTCCACATTCGAAGCCCATTCAGAAAGGAGGGGTCTGCCTGCCTGCCTGTCAGCCCCTCCCACCCCCGCCCCCTTGTTTTCTTACACGTGTTCTGACTTCTGCTAGGTGTGGTTCATATTGCCCAAGTTGGAGCCTCCAGCGTAGTAGGTATGGAGAAGCCAAGGGAGGCACTAAGCCTCTCCTGTTCCTAGAACAAGTTAGGCTCCTGTTCCTTCACCCACCTTTCTTCTTGTCTAGCT... |
Task1_train_30719 | The gene PLP1, RAB9B (proteolipid protein 1| RAB9B, member RAS oncogene family) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Hereditary spastic paraplegia 2 | AGCAGGGGACTGGGGTGGAGCCAGACCGGATTCCCGAGTCTTCCCTCTGTGCAGATCTCTCCTGCTCCACATTCGAAGCCCATTCAGAAAGGAGGGGTCTGCCTGCCTGCCTGTCAGCCCCTCCCACCCCCGCCCCCTTGTTTTCTTACACGTGTTCTGACTTCTGCTAGGTGTGGTTCATATTGCCCAAGTTGGAGCCTCCAGCGTAGTAGGTATGGAGAAGCCAAGGGAGGCACTAAGCCTCTCCTGTTCCTAGAACAAGTTAGGCTCCTGTTCCTTCACCCACCTTTCTTCTTGTCTAGCTCCCTACTCCTGTGAGT... | AGCAGGGGACTGGGGTGGAGCCAGACCGGATTCCCGAGTCTTCCCTCTGTGCAGATCTCTCCTGCTCCACATTCGAAGCCCATTCAGAAAGGAGGGGTCTGCCTGCCTGCCTGTCAGCCCCTCCCACCCCCGCCCCCTTGTTTTCTTACACGTGTTCTGACTTCTGCTAGGTGTGGTTCATATTGCCCAAGTTGGAGCCTCCAGCGTAGTAGGTATGGAGAAGCCAAGGGAGGCACTAAGCCTCTCCTGTTCCTAGAACAAGTTAGGCTCCTGTTCCTTCACCCACCTTTCTTCTTGTCTAGCTCCCTACTCCTGTGAGT... |
Task1_train_30720 | The following genetic variant occurs in PLP1, RAB9B (proteolipid protein 1| RAB9B, member RAS oncogene family) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Pelizaeus-Merzbacher disease | AGCAGGGGACTGGGGTGGAGCCAGACCGGATTCCCGAGTCTTCCCTCTGTGCAGATCTCTCCTGCTCCACATTCGAAGCCCATTCAGAAAGGAGGGGTCTGCCTGCCTGCCTGTCAGCCCCTCCCACCCCCGCCCCCTTGTTTTCTTACACGTGTTCTGACTTCTGCTAGGTGTGGTTCATATTGCCCAAGTTGGAGCCTCCAGCGTAGTAGGTATGGAGAAGCCAAGGGAGGCACTAAGCCTCTCCTGTTCCTAGAACAAGTTAGGCTCCTGTTCCTTCACCCACCTTTCTTCTTGTCTAGCTCCCTACTCCTGTGAGT... | AGCAGGGGACTGGGGTGGAGCCAGACCGGATTCCCGAGTCTTCCCTCTGTGCAGATCTCTCCTGCTCCACATTCGAAGCCCATTCAGAAAGGAGGGGTCTGCCTGCCTGCCTGTCAGCCCCTCCCACCCCCGCCCCCTTGTTTTCTTACACGTGTTCTGACTTCTGCTAGGTGTGGTTCATATTGCCCAAGTTGGAGCCTCCAGCGTAGTAGGTATGGAGAAGCCAAGGGAGGCACTAAGCCTCTCCTGTTCCTAGAACAAGTTAGGCTCCTGTTCCTTCACCCACCTTTCTTCTTGTCTAGCTCCCTACTCCTGTGAGT... |
Task1_train_30721 | A variant has been detected on Chromosome X in PLP1, RAB9B (proteolipid protein 1| RAB9B, member RAS oncogene family). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Pelizaeus-Merzbacher disease | TGTGCAGATCTCTCCTGCTCCACATTCGAAGCCCATTCAGAAAGGAGGGGTCTGCCTGCCTGCCTGTCAGCCCCTCCCACCCCCGCCCCCTTGTTTTCTTACACGTGTTCTGACTTCTGCTAGGTGTGGTTCATATTGCCCAAGTTGGAGCCTCCAGCGTAGTAGGTATGGAGAAGCCAAGGGAGGCACTAAGCCTCTCCTGTTCCTAGAACAAGTTAGGCTCCTGTTCCTTCACCCACCTTTCTTCTTGTCTAGCTCCCTACTCCTGTGAGTTAGCATGTCTGAAGGGTGGGGCAGGGAGAGTAGGTCCCTGGTTCTCC... | TGTGCAGATCTCTCCTGCTCCACATTCGAAGCCCATTCAGAAAGGAGGGGTCTGCCTGCCTGCCTGTCAGCCCCTCCCACCCCCGCCCCCTTGTTTTCTTACACGTGTTCTGACTTCTGCTAGGTGTGGTTCATATTGCCCAAGTTGGAGCCTCCAGCGTAGTAGGTATGGAGAAGCCAAGGGAGGCACTAAGCCTCTCCTGTTCCTAGAACAAGTTAGGCTCCTGTTCCTTCACCCACCTTTCTTCTTGTCTAGCTCCCTACTCCTGTGAGTTAGCATGTCTGAAGGGTGGGGCAGGGAGAGTAGGTCCCTGGTTCTCC... |
Task1_train_30722 | Given a variant located on Chromosome X and affecting RAB9B, PLP1 (RAB9B, member RAS oncogene family| proteolipid protein 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Pelizaeus-Merzbacher disease | TGTGCAGATCTCTCCTGCTCCACATTCGAAGCCCATTCAGAAAGGAGGGGTCTGCCTGCCTGCCTGTCAGCCCCTCCCACCCCCGCCCCCTTGTTTTCTTACACGTGTTCTGACTTCTGCTAGGTGTGGTTCATATTGCCCAAGTTGGAGCCTCCAGCGTAGTAGGTATGGAGAAGCCAAGGGAGGCACTAAGCCTCTCCTGTTCCTAGAACAAGTTAGGCTCCTGTTCCTTCACCCACCTTTCTTCTTGTCTAGCTCCCTACTCCTGTGAGTTAGCATGTCTGAAGGGTGGGGCAGGGAGAGTAGGTCCCTGGTTCTCC... | TGTGCAGATCTCTCCTGCTCCACATTCGAAGCCCATTCAGAAAGGAGGGGTCTGCCTGCCTGCCTGTCAGCCCCTCCCACCCCCGCCCCCTTGTTTTCTTACACGTGTTCTGACTTCTGCTAGGTGTGGTTCATATTGCCCAAGTTGGAGCCTCCAGCGTAGTAGGTATGGAGAAGCCAAGGGAGGCACTAAGCCTCTCCTGTTCCTAGAACAAGTTAGGCTCCTGTTCCTTCACCCACCTTTCTTCTTGTCTAGCTCCCTACTCCTGTGAGTTAGCATGTCTGAAGGGTGGGGCAGGGAGAGTAGGTCCCTGGTTCTCC... |
Task1_train_30723 | The variant affects gene PLP1, RAB9B (proteolipid protein 1| RAB9B, member RAS oncogene family), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | AGGTCTTCAATTAATAAGATTCCCTGGTCTCGTTTGTCTACCTGTTAATGCAGGATCCATGCCTTCCAGTATGTCATCTATGGAACTGCCTCTTTCTTCTTCCTTTATGGGGCCCTCCTGCTGGCTGAGGGCTTCTACACCACCGGCGCAGTCAGGCAGATCTTTGGCGACTACAAGACCACCATCTGCGGCAAGGGCCTGAGCGCAACGGTAACAGGGGGCCAGAAGGGGAGGGGTTCCAGAGGCCAACATCAAGCTCATTCTTTGGAGCGGGTGTGTCATTGTTTGGGAAAATGGCTAGGACATCCCGACAAGGTGAT... | AGGTCTTCAATTAATAAGATTCCCTGGTCTCGTTTGTCTACCTGTTAATGCAGGATCCATGCCTTCCAGTATGTCATCTATGGAACTGCCTCTTTCTTCTTCCTTTATGGGGCCCTCCTGCTGGCTGAGGGCTTCTACACCACCGGCGCAGTCAGGCAGATCTTTGGCGACTACAAGACCACCATCTGCGGCAAGGGCCTGAGCGCAACGGTAACAGGGGGCCAGAAGGGGAGGGGTTCCAGAGGCCAACATCAAGCTCATTCTTTGGAGCGGGTGTGTCATTGTTTGGGAAAATGGCTAGGACATCCCGACAAGGTGAT... |
Task1_train_30724 | This variant impacts the gene RAB9B, PLP1 (RAB9B, member RAS oncogene family| proteolipid protein 1) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Pelizaeus-Merzbacher disease | ATTAATAAGATTCCCTGGTCTCGTTTGTCTACCTGTTAATGCAGGATCCATGCCTTCCAGTATGTCATCTATGGAACTGCCTCTTTCTTCTTCCTTTATGGGGCCCTCCTGCTGGCTGAGGGCTTCTACACCACCGGCGCAGTCAGGCAGATCTTTGGCGACTACAAGACCACCATCTGCGGCAAGGGCCTGAGCGCAACGGTAACAGGGGGCCAGAAGGGGAGGGGTTCCAGAGGCCAACATCAAGCTCATTCTTTGGAGCGGGTGTGTCATTGTTTGGGAAAATGGCTAGGACATCCCGACAAGGTGATCATCCTCAG... | ATTAATAAGATTCCCTGGTCTCGTTTGTCTACCTGTTAATGCAGGATCCATGCCTTCCAGTATGTCATCTATGGAACTGCCTCTTTCTTCTTCCTTTATGGGGCCCTCCTGCTGGCTGAGGGCTTCTACACCACCGGCGCAGTCAGGCAGATCTTTGGCGACTACAAGACCACCATCTGCGGCAAGGGCCTGAGCGCAACGGTAACAGGGGGCCAGAAGGGGAGGGGTTCCAGAGGCCAACATCAAGCTCATTCTTTGGAGCGGGTGTGTCATTGTTTGGGAAAATGGCTAGGACATCCCGACAAGGTGATCATCCTCAG... |
Task1_train_30725 | This variant affects gene PLP1, RAB9B (proteolipid protein 1| RAB9B, member RAS oncogene family) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; Pelizaeus-Merzbacher disease, connatal | AAGATTCCCTGGTCTCGTTTGTCTACCTGTTAATGCAGGATCCATGCCTTCCAGTATGTCATCTATGGAACTGCCTCTTTCTTCTTCCTTTATGGGGCCCTCCTGCTGGCTGAGGGCTTCTACACCACCGGCGCAGTCAGGCAGATCTTTGGCGACTACAAGACCACCATCTGCGGCAAGGGCCTGAGCGCAACGGTAACAGGGGGCCAGAAGGGGAGGGGTTCCAGAGGCCAACATCAAGCTCATTCTTTGGAGCGGGTGTGTCATTGTTTGGGAAAATGGCTAGGACATCCCGACAAGGTGATCATCCTCAGGATTTT... | AAGATTCCCTGGTCTCGTTTGTCTACCTGTTAATGCAGGATCCATGCCTTCCAGTATGTCATCTATGGAACTGCCTCTTTCTTCTTCCTTTATGGGGCCCTCCTGCTGGCTGAGGGCTTCTACACCACCGGCGCAGTCAGGCAGATCTTTGGCGACTACAAGACCACCATCTGCGGCAAGGGCCTGAGCGCAACGGTAACAGGGGGCCAGAAGGGGAGGGGTTCCAGAGGCCAACATCAAGCTCATTCTTTGGAGCGGGTGTGTCATTGTTTGGGAAAATGGCTAGGACATCCCGACAAGGTGATCATCCTCAGGATTTT... |
Task1_train_30726 | This sequence variant lies in PLP1, RAB9B (proteolipid protein 1| RAB9B, member RAS oncogene family) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Pelizaeus-Merzbacher disease | TTCCCTGGTCTCGTTTGTCTACCTGTTAATGCAGGATCCATGCCTTCCAGTATGTCATCTATGGAACTGCCTCTTTCTTCTTCCTTTATGGGGCCCTCCTGCTGGCTGAGGGCTTCTACACCACCGGCGCAGTCAGGCAGATCTTTGGCGACTACAAGACCACCATCTGCGGCAAGGGCCTGAGCGCAACGGTAACAGGGGGCCAGAAGGGGAGGGGTTCCAGAGGCCAACATCAAGCTCATTCTTTGGAGCGGGTGTGTCATTGTTTGGGAAAATGGCTAGGACATCCCGACAAGGTGATCATCCTCAGGATTTTGTGG... | TTCCCTGGTCTCGTTTGTCTACCTGTTAATGCAGGATCCATGCCTTCCAGTATGTCATCTATGGAACTGCCTCTTTCTTCTTCCTTTATGGGGCCCTCCTGCTGGCTGAGGGCTTCTACACCACCGGCGCAGTCAGGCAGATCTTTGGCGACTACAAGACCACCATCTGCGGCAAGGGCCTGAGCGCAACGGTAACAGGGGGCCAGAAGGGGAGGGGTTCCAGAGGCCAACATCAAGCTCATTCTTTGGAGCGGGTGTGTCATTGTTTGGGAAAATGGCTAGGACATCCCGACAAGGTGATCATCCTCAGGATTTTGTGG... |
Task1_train_30727 | This is a variant in PLP1, RAB9B (proteolipid protein 1| RAB9B, member RAS oncogene family), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Hereditary spastic paraplegia 2 | TGGTCTCGTTTGTCTACCTGTTAATGCAGGATCCATGCCTTCCAGTATGTCATCTATGGAACTGCCTCTTTCTTCTTCCTTTATGGGGCCCTCCTGCTGGCTGAGGGCTTCTACACCACCGGCGCAGTCAGGCAGATCTTTGGCGACTACAAGACCACCATCTGCGGCAAGGGCCTGAGCGCAACGGTAACAGGGGGCCAGAAGGGGAGGGGTTCCAGAGGCCAACATCAAGCTCATTCTTTGGAGCGGGTGTGTCATTGTTTGGGAAAATGGCTAGGACATCCCGACAAGGTGATCATCCTCAGGATTTTGTGGCAATA... | TGGTCTCGTTTGTCTACCTGTTAATGCAGGATCCATGCCTTCCAGTATGTCATCTATGGAACTGCCTCTTTCTTCTTCCTTTATGGGGCCCTCCTGCTGGCTGAGGGCTTCTACACCACCGGCGCAGTCAGGCAGATCTTTGGCGACTACAAGACCACCATCTGCGGCAAGGGCCTGAGCGCAACGGTAACAGGGGGCCAGAAGGGGAGGGGTTCCAGAGGCCAACATCAAGCTCATTCTTTGGAGCGGGTGTGTCATTGTTTGGGAAAATGGCTAGGACATCCCGACAAGGTGATCATCCTCAGGATTTTGTGGCAATA... |
Task1_train_30728 | Given a variant located on Chromosome X and affecting PLP1, RAB9B (proteolipid protein 1| RAB9B, member RAS oncogene family), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Hereditary spastic paraplegia 2 | GGTCTCGTTTGTCTACCTGTTAATGCAGGATCCATGCCTTCCAGTATGTCATCTATGGAACTGCCTCTTTCTTCTTCCTTTATGGGGCCCTCCTGCTGGCTGAGGGCTTCTACACCACCGGCGCAGTCAGGCAGATCTTTGGCGACTACAAGACCACCATCTGCGGCAAGGGCCTGAGCGCAACGGTAACAGGGGGCCAGAAGGGGAGGGGTTCCAGAGGCCAACATCAAGCTCATTCTTTGGAGCGGGTGTGTCATTGTTTGGGAAAATGGCTAGGACATCCCGACAAGGTGATCATCCTCAGGATTTTGTGGCAATAA... | GGTCTCGTTTGTCTACCTGTTAATGCAGGATCCATGCCTTCCAGTATGTCATCTATGGAACTGCCTCTTTCTTCTTCCTTTATGGGGCCCTCCTGCTGGCTGAGGGCTTCTACACCACCGGCGCAGTCAGGCAGATCTTTGGCGACTACAAGACCACCATCTGCGGCAAGGGCCTGAGCGCAACGGTAACAGGGGGCCAGAAGGGGAGGGGTTCCAGAGGCCAACATCAAGCTCATTCTTTGGAGCGGGTGTGTCATTGTTTGGGAAAATGGCTAGGACATCCCGACAAGGTGATCATCCTCAGGATTTTGTGGCAATAA... |
Task1_train_30729 | Assess the clinical impact of this variant on gene PLP1, RAB9B (proteolipid protein 1| RAB9B, member RAS oncogene family), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Pelizaeus-Merzbacher disease | ATCCTTTGGCGGCTGAACATGTGTGGGTTCCAGCAATGTCTTTTTGTGGCCAGCAGTTAGCTTAGAAAGGTTTTGTATCTGAAATTTTAATCTCCTATTGGCTTTGTTCAATGGCTAGGGAACAAAAATGTTCCTATGGCAAGGAACATGTTCTAAGCTCAGCCTAAGGCACAAAATGGCACGACTTTCTTTCAAGATCTGTTTTGATTTCTTTACACCTTATCTGCCCAAAAACATCCTCTGAAGCCTCTCTAACCCAGGGATCCTCCTCACTCTTCCCCTACCCATTCCCCCCACCCTCCGTTATACTGGGGCCAGTT... | ATCCTTTGGCGGCTGAACATGTGTGGGTTCCAGCAATGTCTTTTTGTGGCCAGCAGTTAGCTTAGAAAGGTTTTGTATCTGAAATTTTAATCTCCTATTGGCTTTGTTCAATGGCTAGGGAACAAAAATGTTCCTATGGCAAGGAACATGTTCTAAGCTCAGCCTAAGGCACAAAATGGCACGACTTTCTTTCAAGATCTGTTTTGATTTCTTTACACCTTATCTGCCCAAAAACATCCTCTGAAGCCTCTCTAACCCAGGGATCCTCCTCACTCTTCCCCTACCCATTCCCCCCACCCTCCGTTATACTGGGGCCAGTT... |
Task1_train_30730 | This variant impacts the gene PLP1, RAB9B (proteolipid protein 1| RAB9B, member RAS oncogene family) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Pelizaeus-Merzbacher disease, connatal | AACATGTGTGGGTTCCAGCAATGTCTTTTTGTGGCCAGCAGTTAGCTTAGAAAGGTTTTGTATCTGAAATTTTAATCTCCTATTGGCTTTGTTCAATGGCTAGGGAACAAAAATGTTCCTATGGCAAGGAACATGTTCTAAGCTCAGCCTAAGGCACAAAATGGCACGACTTTCTTTCAAGATCTGTTTTGATTTCTTTACACCTTATCTGCCCAAAAACATCCTCTGAAGCCTCTCTAACCCAGGGATCCTCCTCACTCTTCCCCTACCCATTCCCCCCACCCTCCGTTATACTGGGGCCAGTTATCTAGTAGATACTG... | AACATGTGTGGGTTCCAGCAATGTCTTTTTGTGGCCAGCAGTTAGCTTAGAAAGGTTTTGTATCTGAAATTTTAATCTCCTATTGGCTTTGTTCAATGGCTAGGGAACAAAAATGTTCCTATGGCAAGGAACATGTTCTAAGCTCAGCCTAAGGCACAAAATGGCACGACTTTCTTTCAAGATCTGTTTTGATTTCTTTACACCTTATCTGCCCAAAAACATCCTCTGAAGCCTCTCTAACCCAGGGATCCTCCTCACTCTTCCCCTACCCATTCCCCCCACCCTCCGTTATACTGGGGCCAGTTATCTAGTAGATACTG... |
Task1_train_30731 | Here’s a variant in SERPINA7 (serpin family A member 7) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Thyroxine-binding globulin, Chicago | CAGGGCCAGGATTGTAATGTAACTTTAGTGAAACACAACTCCATGTTAACAATGAATTTTTGTACCAGAGATTCTGCTCTGGGCTTCAAAAATTGCTTACACAAAAGCAAAGTGTGAACTATACCAGGAATAAACAAACTTCCATGCAAATGGGTCTAATCAGAAAAAATTAGAATGTTTGTAATACACATGCTTTTCTAAACATAAATATTTATTTCAATATGGAAGTACAACATCTGCAACAGTACTTATGCATTTTTTTTACTATTTTCCTGTCACTGAAGTGTTTTACCTCAGGGCTAGAATTTCAGATACTACAT... | CAGGGCCAGGATTGTAATGTAACTTTAGTGAAACACAACTCCATGTTAACAATGAATTTTTGTACCAGAGATTCTGCTCTGGGCTTCAAAAATTGCTTACACAAAAGCAAAGTGTGAACTATACCAGGAATAAACAAACTTCCATGCAAATGGGTCTAATCAGAAAAAATTAGAATGTTTGTAATACACATGCTTTTCTAAACATAAATATTTATTTCAATATGGAAGTACAACATCTGCAACAGTACTTATGCATTTTTTTTACTATTTTCCTGTCACTGAAGTGTTTTACCTCAGGGCTAGAATTTCAGATACTACAT... |
Task1_train_30732 | This variant impacts the gene SERPINA7 (serpin family A member 7) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Thyroxine-binding globulin, slow | TCCTTCTCTCTCTCATGATGGTATTATATTGGACTCTGCTTCTTCCCTGAGTATTGATAACCATTACTATGTAAGTCAATACATGGCACCAAACTCACAGAAGTTATTCTGAAAGGAATGCACTCAGGTACAGCCAATGTTGGACTGAAGCACTGGGAGTAGGGAGATGTAACTCCTTTATAATCAAGAGAAAATATCCCTGAGGTGACGACCAAGGTTGGGGAGCTAGTGGCATGAAGGTTAATGGGTAGCACCCAGGAGCTTCACAGTTTTCTGCCTTGCACTTCCAGTACAGAGTGGCTGCCCAATCACCTTTCAAC... | TCCTTCTCTCTCTCATGATGGTATTATATTGGACTCTGCTTCTTCCCTGAGTATTGATAACCATTACTATGTAAGTCAATACATGGCACCAAACTCACAGAAGTTATTCTGAAAGGAATGCACTCAGGTACAGCCAATGTTGGACTGAAGCACTGGGAGTAGGGAGATGTAACTCCTTTATAATCAAGAGAAAATATCCCTGAGGTGACGACCAAGGTTGGGGAGCTAGTGGCATGAAGGTTAATGGGTAGCACCCAGGAGCTTCACAGTTTTCTGCCTTGCACTTCCAGTACAGAGTGGCTGCCCAATCACCTTTCAAC... |
Task1_train_30733 | Chromosome X houses a mutation in gene SERPINA7 (serpin family A member 7). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Thyroxine-binding globulin deficiency, partial | GCTAGTGGCATGAAGGTTAATGGGTAGCACCCAGGAGCTTCACAGTTTTCTGCCTTGCACTTCCAGTACAGAGTGGCTGCCCAATCACCTTTCAACATCAAAATCCAACCTGTTCTTTGAGCTCTAGTTGGTCTACAGGAAGCCATCAATTTACTAATAGGCTGACTTTGGGGAGCTCATCTTATCTTTCAAGACCAGACTTCCTAATTTGAAAAATGCCAATTATACTGCCTCCTTTGTAGGTTTGTTGATGTGCTTGGATGATATGAAGTATGTAGAATGCCCAGCCAAGGGCCTGGTAGACAGTATTTTCTTGGCAT... | GCTAGTGGCATGAAGGTTAATGGGTAGCACCCAGGAGCTTCACAGTTTTCTGCCTTGCACTTCCAGTACAGAGTGGCTGCCCAATCACCTTTCAACATCAAAATCCAACCTGTTCTTTGAGCTCTAGTTGGTCTACAGGAAGCCATCAATTTACTAATAGGCTGACTTTGGGGAGCTCATCTTATCTTTCAAGACCAGACTTCCTAATTTGAAAAATGCCAATTATACTGCCTCCTTTGTAGGTTTGTTGATGTGCTTGGATGATATGAAGTATGTAGAATGCCCAGCCAAGGGCCTGGTAGACAGTATTTTCTTGGCAT... |
Task1_train_30734 | This mutation is located in gene TBC1D8B (TBC1 domain family member 8B) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Nephrotic syndrome, type 20 | CACATACTGCCATTGCCAAAATCTTCTTTCTTGAACTTTGCCCTATCAAAATCCTCAGAAAATTTCTAATTGATGCTATGCTGCATTTGTGACTCCTGTTTTTACTTTTTATCAATTCCTGTATCTACTCTCCTATCCTTTCCTTTCAGCTAAGCCAAATTTCTCTTTATGTCTTTGTCTTATCTCCTACTCTTCTAGTTTACCTCCTTCTATGCATGTAACTTCCTAATGTGATAGGAAGTGATGTGAGGCAAATGTGAGCATCTGCCAATCTATCTATATTCTCATTCAAACCTTGCTTAAAATCTCAATTCTTTTTA... | CACATACTGCCATTGCCAAAATCTTCTTTCTTGAACTTTGCCCTATCAAAATCCTCAGAAAATTTCTAATTGATGCTATGCTGCATTTGTGACTCCTGTTTTTACTTTTTATCAATTCCTGTATCTACTCTCCTATCCTTTCCTTTCAGCTAAGCCAAATTTCTCTTTATGTCTTTGTCTTATCTCCTACTCTTCTAGTTTACCTCCTTCTATGCATGTAACTTCCTAATGTGATAGGAAGTGATGTGAGGCAAATGTGAGCATCTGCCAATCTATCTATATTCTCATTCAAACCTTGCTTAAAATCTCAATTCTTTTTA... |
Task1_train_30735 | This mutation is located in gene TBC1D8B (TBC1 domain family member 8B) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Nephrotic syndrome, type 20 | TGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATTCTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTAGACATGAAGTGCTTGCACATGCCTATGTCCTGAATGGTATTGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTCTA... | TGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATTCTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTAGACATGAAGTGCTTGCACATGCCTATGTCCTGAATGGTATTGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTCTA... |
Task1_train_30736 | A mutation found in CLDN2 (claudin 2) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Azoospermia, obstructive, with nephrolithiasis | AAGACCAGTGTGGGCAACATGGCAAAACCTGGTCTCTACAAAAAATACACACACACACACACAACTAGCCAGGTGTGGTGATGCGCTCCTGTAGTCCCAGCTACTTGTGGGGCTGAGGCAGGAGGATCACACACACACACACACACACACACACACACACACACACAACTAGCCAGGTGTGGTGATGCGCTCCTGTAGTCCCAGCTACTTGTGGGGCTGAGGCAGGAGGATCACACACACACACACACACACACACACACACACACACACAAACTAGCCAGGTGTGGTGATGCGCTCCTGTAGTCCCAGCTACTTGTGGG... | AAGACCAGTGTGGGCAACATGGCAAAACCTGGTCTCTACAAAAAATACACACACACACACACAACTAGCCAGGTGTGGTGATGCGCTCCTGTAGTCCCAGCTACTTGTGGGGCTGAGGCAGGAGGATCACACACACACACACACACACACACACACACACACACACAACTAGCCAGGTGTGGTGATGCGCTCCTGTAGTCCCAGCTACTTGTGGGGCTGAGGCAGGAGGATCACACACACACACACACACACACACACACACACACACACAAACTAGCCAGGTGTGGTGATGCGCTCCTGTAGTCCCAGCTACTTGTGGG... |
Task1_train_30737 | The gene CLDN2 (claudin 2) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Male infertility | AAGACCAGTGTGGGCAACATGGCAAAACCTGGTCTCTACAAAAAATACACACACACACACACAACTAGCCAGGTGTGGTGATGCGCTCCTGTAGTCCCAGCTACTTGTGGGGCTGAGGCAGGAGGATCACACACACACACACACACACACACACACACACACACACAACTAGCCAGGTGTGGTGATGCGCTCCTGTAGTCCCAGCTACTTGTGGGGCTGAGGCAGGAGGATCACACACACACACACACACACACACACACACACACACACAAACTAGCCAGGTGTGGTGATGCGCTCCTGTAGTCCCAGCTACTTGTGGG... | AAGACCAGTGTGGGCAACATGGCAAAACCTGGTCTCTACAAAAAATACACACACACACACACAACTAGCCAGGTGTGGTGATGCGCTCCTGTAGTCCCAGCTACTTGTGGGGCTGAGGCAGGAGGATCACACACACACACACACACACACACACACACACACACACAACTAGCCAGGTGTGGTGATGCGCTCCTGTAGTCCCAGCTACTTGTGGGGCTGAGGCAGGAGGATCACACACACACACACACACACACACACACACACACACACAAACTAGCCAGGTGTGGTGATGCGCTCCTGTAGTCCCAGCTACTTGTGGG... |
Task1_train_30738 | Consider a variant on Chromosome X in gene DNAAF6 (dynein axonemal assembly factor 6). Determine its clinical classification and disease relevance. | Pathogenic; Ciliary dyskinesia, primary, 36, X-linked | GCTAAGATAGTAGATTTTAAGTATTCTCATCACAAGTAAATGATAAGTAGGTGAGGTAATCCATATGTTAATCAGCTTGAGTTAGTCATCCACTGTGTATACATATTTCAGAACATCATATGGTATATCATAAATATATACAATTTTTATTTGTTCATTAAAAATGGAGAAATGAATAAATAATTTTTAAATAGAAAAAAGATGAACTAAAATAATCATGGAAATGATGAATAGCCATTTACATATAAAGATGCTGTTTTTACTCTACCACTGCAGGTAAATAGTTTTTCTAATAATGGAAATATATTTGCCTTGAATTA... | GCTAAGATAGTAGATTTTAAGTATTCTCATCACAAGTAAATGATAAGTAGGTGAGGTAATCCATATGTTAATCAGCTTGAGTTAGTCATCCACTGTGTATACATATTTCAGAACATCATATGGTATATCATAAATATATACAATTTTTATTTGTTCATTAAAAATGGAGAAATGAATAAATAATTTTTAAATAGAAAAAAGATGAACTAAAATAATCATGGAAATGATGAATAGCCATTTACATATAAAGATGCTGTTTTTACTCTACCACTGCAGGTAAATAGTTTTTCTAATAATGGAAATATATTTGCCTTGAATTA... |
Task1_train_30739 | Given this variant in gene PRPS1 (phosphoribosyl pyrophosphate synthetase 1) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Charcot-Marie-Tooth disease X-linked recessive 5 | TCACTCTTATCTCATTGACCTCACTTTCCTCCTTTTCTCTTATAGATACATTCCACCTCCACCACACAACACTCGTCCCGCATTGGTATTCCTCAAACAAGCGAGATACATCTGCCTTAGGGTATTTGCCCTTTCTGTTCTCTTTGCTTATCGAGATATCAACATGGCTCATTTTTTTGTTTTTTTTTTCCTCCTTCAGGTCTTTGCCCAAATGTTACCTTCCAAGACAGGTCTTCTCTGACCACCCTACTTAAAATTGTACTCCTCTCCTCTACACTCTGGCACATTATCCCACTTTCCTTGCCTGATTTTTTTTTCCA... | TCACTCTTATCTCATTGACCTCACTTTCCTCCTTTTCTCTTATAGATACATTCCACCTCCACCACACAACACTCGTCCCGCATTGGTATTCCTCAAACAAGCGAGATACATCTGCCTTAGGGTATTTGCCCTTTCTGTTCTCTTTGCTTATCGAGATATCAACATGGCTCATTTTTTTGTTTTTTTTTTCCTCCTTCAGGTCTTTGCCCAAATGTTACCTTCCAAGACAGGTCTTCTCTGACCACCCTACTTAAAATTGTACTCCTCTCCTCTACACTCTGGCACATTATCCCACTTTCCTTGCCTGATTTTTTTTTCCA... |
Task1_train_30740 | This alteration in PRPS1 (phosphoribosyl pyrophosphate synthetase 1) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Charcot-Marie-Tooth disease X-linked recessive 5 | GAGTTACTTAGTAATTGGACCAGAGTACAGTTAACACAGAATGAGGGCAAGGACCACATTTTATTCACCATTGTTTCCCTAGCATCTAGTACAGTGATGAGCATATGAACATTTAATATTTACTGGGTAAATTGCCAGTATGGTAGAGGTGGTACTGTCTTTTGTTAAAGTGTCATTATAGAACAGTAGTGATTCACTCCTTATGATATTTCTACTTCTTTTGCTATTTATGGACTCTGTAACAGTAATAGGTGATGCATCAAATTTTATGTACATCACATGTACCTATATGAAATGAGATACAGGCCACCTGCTAAAAT... | GAGTTACTTAGTAATTGGACCAGAGTACAGTTAACACAGAATGAGGGCAAGGACCACATTTTATTCACCATTGTTTCCCTAGCATCTAGTACAGTGATGAGCATATGAACATTTAATATTTACTGGGTAAATTGCCAGTATGGTAGAGGTGGTACTGTCTTTTGTTAAAGTGTCATTATAGAACAGTAGTGATTCACTCCTTATGATATTTCTACTTCTTTTGCTATTTATGGACTCTGTAACAGTAATAGGTGATGCATCAAATTTTATGTACATCACATGTACCTATATGAAATGAGATACAGGCCACCTGCTAAAAT... |
Task1_train_30741 | The variant affects gene PRPS1 (phosphoribosyl pyrophosphate synthetase 1), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Phosphoribosylpyrophosphate synthetase superactivity | TACAGTTAACACAGAATGAGGGCAAGGACCACATTTTATTCACCATTGTTTCCCTAGCATCTAGTACAGTGATGAGCATATGAACATTTAATATTTACTGGGTAAATTGCCAGTATGGTAGAGGTGGTACTGTCTTTTGTTAAAGTGTCATTATAGAACAGTAGTGATTCACTCCTTATGATATTTCTACTTCTTTTGCTATTTATGGACTCTGTAACAGTAATAGGTGATGCATCAAATTTTATGTACATCACATGTACCTATATGAAATGAGATACAGGCCACCTGCTAAAATTATGGTCCGGTTATTTGTAAGTACT... | TACAGTTAACACAGAATGAGGGCAAGGACCACATTTTATTCACCATTGTTTCCCTAGCATCTAGTACAGTGATGAGCATATGAACATTTAATATTTACTGGGTAAATTGCCAGTATGGTAGAGGTGGTACTGTCTTTTGTTAAAGTGTCATTATAGAACAGTAGTGATTCACTCCTTATGATATTTCTACTTCTTTTGCTATTTATGGACTCTGTAACAGTAATAGGTGATGCATCAAATTTTATGTACATCACATGTACCTATATGAAATGAGATACAGGCCACCTGCTAAAATTATGGTCCGGTTATTTGTAAGTACT... |
Task1_train_30742 | Gene PRPS1 (phosphoribosyl pyrophosphate synthetase 1), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Hearing loss, X-linked 1 | TCACCATTGTTTCCCTAGCATCTAGTACAGTGATGAGCATATGAACATTTAATATTTACTGGGTAAATTGCCAGTATGGTAGAGGTGGTACTGTCTTTTGTTAAAGTGTCATTATAGAACAGTAGTGATTCACTCCTTATGATATTTCTACTTCTTTTGCTATTTATGGACTCTGTAACAGTAATAGGTGATGCATCAAATTTTATGTACATCACATGTACCTATATGAAATGAGATACAGGCCACCTGCTAAAATTATGGTCCGGTTATTTGTAAGTACTTTAGACTAACATGTGCCAACCATTTCATGCATCTTTTTC... | TCACCATTGTTTCCCTAGCATCTAGTACAGTGATGAGCATATGAACATTTAATATTTACTGGGTAAATTGCCAGTATGGTAGAGGTGGTACTGTCTTTTGTTAAAGTGTCATTATAGAACAGTAGTGATTCACTCCTTATGATATTTCTACTTCTTTTGCTATTTATGGACTCTGTAACAGTAATAGGTGATGCATCAAATTTTATGTACATCACATGTACCTATATGAAATGAGATACAGGCCACCTGCTAAAATTATGGTCCGGTTATTTGTAAGTACTTTAGACTAACATGTGCCAACCATTTCATGCATCTTTTTC... |
Task1_train_30743 | This variant affects the gene PRPS1 (phosphoribosyl pyrophosphate synthetase 1) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Charcot-Marie-Tooth Neuropathy X | ACTGGGTAAATTGCCAGTATGGTAGAGGTGGTACTGTCTTTTGTTAAAGTGTCATTATAGAACAGTAGTGATTCACTCCTTATGATATTTCTACTTCTTTTGCTATTTATGGACTCTGTAACAGTAATAGGTGATGCATCAAATTTTATGTACATCACATGTACCTATATGAAATGAGATACAGGCCACCTGCTAAAATTATGGTCCGGTTATTTGTAAGTACTTTAGACTAACATGTGCCAACCATTTCATGCATCTTTTTCGTGTCTGTCACATGGTAATATTAGAAAATATTACCATAGAAAATGGTAATATTTGTA... | ACTGGGTAAATTGCCAGTATGGTAGAGGTGGTACTGTCTTTTGTTAAAGTGTCATTATAGAACAGTAGTGATTCACTCCTTATGATATTTCTACTTCTTTTGCTATTTATGGACTCTGTAACAGTAATAGGTGATGCATCAAATTTTATGTACATCACATGTACCTATATGAAATGAGATACAGGCCACCTGCTAAAATTATGGTCCGGTTATTTGTAAGTACTTTAGACTAACATGTGCCAACCATTTCATGCATCTTTTTCGTGTCTGTCACATGGTAATATTAGAAAATATTACCATAGAAAATGGTAATATTTGTA... |
Task1_train_30744 | A variant affecting Chromosome X, within the gene PRPS1 (phosphoribosyl pyrophosphate synthetase 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hearing loss, X-linked 1 | CACCATGCCCTTCTAATTTTTGTATTTTTAGTAGAGATACATGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCCACCCACCTTGGCCTGCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGCCCTGCCATATACTTTAAATCATCTCTAGATTACTTATAATACTTAATACAATATAAATACTACGTAAATAGTTGTTATACTGTATTTAGAAAATAATGACAAAGAAAAAAATCTGTACATGTTCAATACAGGTGCAATTTTTTCTCCAAATATTTTCAATCCACACTTGG... | CACCATGCCCTTCTAATTTTTGTATTTTTAGTAGAGATACATGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCCACCCACCTTGGCCTGCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGCCCTGCCATATACTTTAAATCATCTCTAGATTACTTATAATACTTAATACAATATAAATACTACGTAAATAGTTGTTATACTGTATTTAGAAAATAATGACAAAGAAAAAAATCTGTACATGTTCAATACAGGTGCAATTTTTTCTCCAAATATTTTCAATCCACACTTGG... |
Task1_train_30745 | A genetic alteration is present in PRPS1 (phosphoribosyl pyrophosphate synthetase 1) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hearing loss, X-linked 1 | GCCCTTCTAATTTTTGTATTTTTAGTAGAGATACATGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCCACCCACCTTGGCCTGCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGCCCTGCCATATACTTTAAATCATCTCTAGATTACTTATAATACTTAATACAATATAAATACTACGTAAATAGTTGTTATACTGTATTTAGAAAATAATGACAAAGAAAAAAATCTGTACATGTTCAATACAGGTGCAATTTTTTCTCCAAATATTTTCAATCCACACTTGGTTGAAT... | GCCCTTCTAATTTTTGTATTTTTAGTAGAGATACATGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCCACCCACCTTGGCCTGCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGCCCTGCCATATACTTTAAATCATCTCTAGATTACTTATAATACTTAATACAATATAAATACTACGTAAATAGTTGTTATACTGTATTTAGAAAATAATGACAAAGAAAAAAATCTGTACATGTTCAATACAGGTGCAATTTTTTCTCCAAATATTTTCAATCCACACTTGGTTGAAT... |
Task1_train_30746 | This sequence change occurs on Chromosome X, altering PRPS1 (phosphoribosyl pyrophosphate synthetase 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Charcot-Marie-Tooth disease X-linked recessive 5 | GCCCTTCTAATTTTTGTATTTTTAGTAGAGATACATGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCCACCCACCTTGGCCTGCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGCCCTGCCATATACTTTAAATCATCTCTAGATTACTTATAATACTTAATACAATATAAATACTACGTAAATAGTTGTTATACTGTATTTAGAAAATAATGACAAAGAAAAAAATCTGTACATGTTCAATACAGGTGCAATTTTTTCTCCAAATATTTTCAATCCACACTTGGTTGAAT... | GCCCTTCTAATTTTTGTATTTTTAGTAGAGATACATGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCCACCCACCTTGGCCTGCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGCCCTGCCATATACTTTAAATCATCTCTAGATTACTTATAATACTTAATACAATATAAATACTACGTAAATAGTTGTTATACTGTATTTAGAAAATAATGACAAAGAAAAAAATCTGTACATGTTCAATACAGGTGCAATTTTTTCTCCAAATATTTTCAATCCACACTTGGTTGAAT... |
Task1_train_30747 | The variant affects gene PRPS1 (phosphoribosyl pyrophosphate synthetase 1), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Charcot-Marie-Tooth disease X-linked recessive 5 | TTTTAGTAGAGATACATGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCCACCCACCTTGGCCTGCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGCCCTGCCATATACTTTAAATCATCTCTAGATTACTTATAATACTTAATACAATATAAATACTACGTAAATAGTTGTTATACTGTATTTAGAAAATAATGACAAAGAAAAAAATCTGTACATGTTCAATACAGGTGCAATTTTTTCTCCAAATATTTTCAATCCACACTTGGTTGAATCCATAGATGTGGAACCTAT... | TTTTAGTAGAGATACATGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCCACCCACCTTGGCCTGCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGCCCTGCCATATACTTTAAATCATCTCTAGATTACTTATAATACTTAATACAATATAAATACTACGTAAATAGTTGTTATACTGTATTTAGAAAATAATGACAAAGAAAAAAATCTGTACATGTTCAATACAGGTGCAATTTTTTCTCCAAATATTTTCAATCCACACTTGGTTGAATCCATAGATGTGGAACCTAT... |
Task1_train_30748 | Given this variant in gene PRPS1 (phosphoribosyl pyrophosphate synthetase 1) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Phosphoribosylpyrophosphate synthetase superactivity | GCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCCACCCACCTTGGCCTGCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGCCCTGCCATATACTTTAAATCATCTCTAGATTACTTATAATACTTAATACAATATAAATACTACGTAAATAGTTGTTATACTGTATTTAGAAAATAATGACAAAGAAAAAAATCTGTACATGTTCAATACAGGTGCAATTTTTTCTCCAAATATTTTCAATCCACACTTGGTTGAATCCATAGATGTGGAACCTATGGATATGGAGGGCTGACAGTACA... | GCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCCACCCACCTTGGCCTGCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGCCCTGCCATATACTTTAAATCATCTCTAGATTACTTATAATACTTAATACAATATAAATACTACGTAAATAGTTGTTATACTGTATTTAGAAAATAATGACAAAGAAAAAAATCTGTACATGTTCAATACAGGTGCAATTTTTTCTCCAAATATTTTCAATCCACACTTGGTTGAATCCATAGATGTGGAACCTATGGATATGGAGGGCTGACAGTACA... |
Task1_train_30749 | With a mutation on Chromosome X in gene PRPS1 (phosphoribosyl pyrophosphate synthetase 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Arts syndrome | GGCTGGTCTCGAACTCCTGACTTCAAGTGATCCACCCACCTTGGCCTGCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGCCCTGCCATATACTTTAAATCATCTCTAGATTACTTATAATACTTAATACAATATAAATACTACGTAAATAGTTGTTATACTGTATTTAGAAAATAATGACAAAGAAAAAAATCTGTACATGTTCAATACAGGTGCAATTTTTTCTCCAAATATTTTCAATCCACACTTGGTTGAATCCATAGATGTGGAACCTATGGATATGGAGGGCTGACAGTACAGTGGTTTAAAATC... | GGCTGGTCTCGAACTCCTGACTTCAAGTGATCCACCCACCTTGGCCTGCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGCCCTGCCATATACTTTAAATCATCTCTAGATTACTTATAATACTTAATACAATATAAATACTACGTAAATAGTTGTTATACTGTATTTAGAAAATAATGACAAAGAAAAAAATCTGTACATGTTCAATACAGGTGCAATTTTTTCTCCAAATATTTTCAATCCACACTTGGTTGAATCCATAGATGTGGAACCTATGGATATGGAGGGCTGACAGTACAGTGGTTTAAAATC... |
Task1_train_30750 | The gene PRPS1 (phosphoribosyl pyrophosphate synthetase 1), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Arts syndrome | TGTCTCTACAAAAAAAAAAAAAAAAAAAAAGGCATGCATGGACTTTGCTATTTTACAGTGCAGCAAGTATGTTTTATTTGAGGAGTTCATAGTTGTTGGAAAGTTGACCTCCAGATGAGTAAGTAGTGATGTGATTTACAAAGGAAACTATAATATCTATTCTGTGATGTATCTTCAAACCTTGACATGTTAGGTGTTAAAGGTTTACATATGTATGTGTTGAAAGAGATTTTAATAAAATTATTTTTTAAAGTCTGCCTAGTTTGAATAATTGAGCATTGGAAACACTTGAATAGGATTGAAAATGTGTACATTAAGAA... | TGTCTCTACAAAAAAAAAAAAAAAAAAAAAGGCATGCATGGACTTTGCTATTTTACAGTGCAGCAAGTATGTTTTATTTGAGGAGTTCATAGTTGTTGGAAAGTTGACCTCCAGATGAGTAAGTAGTGATGTGATTTACAAAGGAAACTATAATATCTATTCTGTGATGTATCTTCAAACCTTGACATGTTAGGTGTTAAAGGTTTACATATGTATGTGTTGAAAGAGATTTTAATAAAATTATTTTTTAAAGTCTGCCTAGTTTGAATAATTGAGCATTGGAAACACTTGAATAGGATTGAAAATGTGTACATTAAGAA... |
Task1_train_30751 | Gene PRPS1 (phosphoribosyl pyrophosphate synthetase 1) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Phosphoribosylpyrophosphate synthetase superactivity | TCTAAAAGCCATTCAAATCTTCAATGACTGTTTCTCAACAACCTCTTTTATTTCAGTAACTTCAACAGAACTGATAAGCTGAGAACTTGAGTTATGTTATCCAGCCAGATATATGGGTTGGTGAGTCCCATGTAATTGCTAGTTACCATCTGTAATGCTAGAGACAGCCTAAGAAACATCCCCCCAACTAGTAGTTGTCATATTTAATTTGTCGGTCATTATTTTAATATCTTTCTGTGGGACTTAGAAAATAGTCACATTTGAAATAGGCAGGATTTTCTTTCCAAAGGTGGGTATAGGAAAACTGCCTTTAGTAGACA... | TCTAAAAGCCATTCAAATCTTCAATGACTGTTTCTCAACAACCTCTTTTATTTCAGTAACTTCAACAGAACTGATAAGCTGAGAACTTGAGTTATGTTATCCAGCCAGATATATGGGTTGGTGAGTCCCATGTAATTGCTAGTTACCATCTGTAATGCTAGAGACAGCCTAAGAAACATCCCCCCAACTAGTAGTTGTCATATTTAATTTGTCGGTCATTATTTTAATATCTTTCTGTGGGACTTAGAAAATAGTCACATTTGAAATAGGCAGGATTTTCTTTCCAAAGGTGGGTATAGGAAAACTGCCTTTAGTAGACA... |
Task1_train_30752 | This genomic variant is located on Chromosome X, within the PRPS1 (phosphoribosyl pyrophosphate synthetase 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Phosphoribosylpyrophosphate synthetase superactivity | ATTCAAATCTTCAATGACTGTTTCTCAACAACCTCTTTTATTTCAGTAACTTCAACAGAACTGATAAGCTGAGAACTTGAGTTATGTTATCCAGCCAGATATATGGGTTGGTGAGTCCCATGTAATTGCTAGTTACCATCTGTAATGCTAGAGACAGCCTAAGAAACATCCCCCCAACTAGTAGTTGTCATATTTAATTTGTCGGTCATTATTTTAATATCTTTCTGTGGGACTTAGAAAATAGTCACATTTGAAATAGGCAGGATTTTCTTTCCAAAGGTGGGTATAGGAAAACTGCCTTTAGTAGACAACTTATTGCT... | ATTCAAATCTTCAATGACTGTTTCTCAACAACCTCTTTTATTTCAGTAACTTCAACAGAACTGATAAGCTGAGAACTTGAGTTATGTTATCCAGCCAGATATATGGGTTGGTGAGTCCCATGTAATTGCTAGTTACCATCTGTAATGCTAGAGACAGCCTAAGAAACATCCCCCCAACTAGTAGTTGTCATATTTAATTTGTCGGTCATTATTTTAATATCTTTCTGTGGGACTTAGAAAATAGTCACATTTGAAATAGGCAGGATTTTCTTTCCAAAGGTGGGTATAGGAAAACTGCCTTTAGTAGACAACTTATTGCT... |
Task1_train_30753 | This mutation occurs in PRPS1 (phosphoribosyl pyrophosphate synthetase 1) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Arts syndrome | CCCTGAGTATGCTACATGCGATTGTTTTTTGTTTTAATGAGTTAAAATAAAAATCCTGAGCAGACAGGTGTGTGTGCTCATATTTTTATTTTACCTAAGCCGGAACCCTTGGTCTTACTTCTCGACTGTTTTACCGGCTGCTACTTTTGTTCATTATTACTTCTTTTTTTCACTCTAATCCTGTGATAGGTTAATGTTTATATTACTTGTCATCTCTTGCCTGCAGTGTTCTAAATTGCCTCCCCACTCTGTTCTCCATTGCCAGTCACCGTTCTCTCACCTCCCCACTCCATCTCTCCATGCTTGCTAATCTTCCTGCA... | CCCTGAGTATGCTACATGCGATTGTTTTTTGTTTTAATGAGTTAAAATAAAAATCCTGAGCAGACAGGTGTGTGTGCTCATATTTTTATTTTACCTAAGCCGGAACCCTTGGTCTTACTTCTCGACTGTTTTACCGGCTGCTACTTTTGTTCATTATTACTTCTTTTTTTCACTCTAATCCTGTGATAGGTTAATGTTTATATTACTTGTCATCTCTTGCCTGCAGTGTTCTAAATTGCCTCCCCACTCTGTTCTCCATTGCCAGTCACCGTTCTCTCACCTCCCCACTCCATCTCTCCATGCTTGCTAATCTTCCTGCA... |
Task1_train_30754 | A sequence alteration has been identified in PRPS1 (phosphoribosyl pyrophosphate synthetase 1) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Hearing loss, X-linked 1 | CCCTGAGTATGCTACATGCGATTGTTTTTTGTTTTAATGAGTTAAAATAAAAATCCTGAGCAGACAGGTGTGTGTGCTCATATTTTTATTTTACCTAAGCCGGAACCCTTGGTCTTACTTCTCGACTGTTTTACCGGCTGCTACTTTTGTTCATTATTACTTCTTTTTTTCACTCTAATCCTGTGATAGGTTAATGTTTATATTACTTGTCATCTCTTGCCTGCAGTGTTCTAAATTGCCTCCCCACTCTGTTCTCCATTGCCAGTCACCGTTCTCTCACCTCCCCACTCCATCTCTCCATGCTTGCTAATCTTCCTGCA... | CCCTGAGTATGCTACATGCGATTGTTTTTTGTTTTAATGAGTTAAAATAAAAATCCTGAGCAGACAGGTGTGTGTGCTCATATTTTTATTTTACCTAAGCCGGAACCCTTGGTCTTACTTCTCGACTGTTTTACCGGCTGCTACTTTTGTTCATTATTACTTCTTTTTTTCACTCTAATCCTGTGATAGGTTAATGTTTATATTACTTGTCATCTCTTGCCTGCAGTGTTCTAAATTGCCTCCCCACTCTGTTCTCCATTGCCAGTCACCGTTCTCTCACCTCCCCACTCCATCTCTCCATGCTTGCTAATCTTCCTGCA... |
Task1_train_30755 | Here’s a variant in PRPS1 (phosphoribosyl pyrophosphate synthetase 1) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hearing loss, X-linked 1 | TTGTGATCCAAAAGTTAACAATCACCTGTTTCTTTTCCTTTTTTTTTTTCTTTTCAAACTGCCAAGCCTTGGGAAAATCACCTGTTTAAAAGTTTAAATTGCTACACCTCAGAATCTCTGGAAGATGGAGCCTAAGATTCTACATTTTAACAGGTTCTCCCAGTGATTCTGATGCAAATTAAAGTTTTCAAGTCCATACTTTACAGTATGTGTTTGTCTGTTAACTATCGGCCCCTGTAGATATAATGTGAAACCTTTAAACTGATTGTACACTTCTACCAACTTTAGTGTTTCTCAGTGTGCTCTGGACCTAAGGTTCT... | TTGTGATCCAAAAGTTAACAATCACCTGTTTCTTTTCCTTTTTTTTTTTCTTTTCAAACTGCCAAGCCTTGGGAAAATCACCTGTTTAAAAGTTTAAATTGCTACACCTCAGAATCTCTGGAAGATGGAGCCTAAGATTCTACATTTTAACAGGTTCTCCCAGTGATTCTGATGCAAATTAAAGTTTTCAAGTCCATACTTTACAGTATGTGTTTGTCTGTTAACTATCGGCCCCTGTAGATATAATGTGAAACCTTTAAACTGATTGTACACTTCTACCAACTTTAGTGTTTCTCAGTGTGCTCTGGACCTAAGGTTCT... |
Task1_train_30756 | This gene mutation involves PRPS1 (phosphoribosyl pyrophosphate synthetase 1) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; PRPS1-related disorder | TTCTTTTCAAACTGCCAAGCCTTGGGAAAATCACCTGTTTAAAAGTTTAAATTGCTACACCTCAGAATCTCTGGAAGATGGAGCCTAAGATTCTACATTTTAACAGGTTCTCCCAGTGATTCTGATGCAAATTAAAGTTTTCAAGTCCATACTTTACAGTATGTGTTTGTCTGTTAACTATCGGCCCCTGTAGATATAATGTGAAACCTTTAAACTGATTGTACACTTCTACCAACTTTAGTGTTTCTCAGTGTGCTCTGGACCTAAGGTTCTTATTAAAATGTAGATTCCTTTGCTCCATCTAAGACCTATAAAACCAG... | TTCTTTTCAAACTGCCAAGCCTTGGGAAAATCACCTGTTTAAAAGTTTAAATTGCTACACCTCAGAATCTCTGGAAGATGGAGCCTAAGATTCTACATTTTAACAGGTTCTCCCAGTGATTCTGATGCAAATTAAAGTTTTCAAGTCCATACTTTACAGTATGTGTTTGTCTGTTAACTATCGGCCCCTGTAGATATAATGTGAAACCTTTAAACTGATTGTACACTTCTACCAACTTTAGTGTTTCTCAGTGTGCTCTGGACCTAAGGTTCTTATTAAAATGTAGATTCCTTTGCTCCATCTAAGACCTATAAAACCAG... |
Task1_train_30757 | With a mutation on Chromosome X in gene PRPS1 (phosphoribosyl pyrophosphate synthetase 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Hearing loss, X-linked 1 | TTCTTTTCAAACTGCCAAGCCTTGGGAAAATCACCTGTTTAAAAGTTTAAATTGCTACACCTCAGAATCTCTGGAAGATGGAGCCTAAGATTCTACATTTTAACAGGTTCTCCCAGTGATTCTGATGCAAATTAAAGTTTTCAAGTCCATACTTTACAGTATGTGTTTGTCTGTTAACTATCGGCCCCTGTAGATATAATGTGAAACCTTTAAACTGATTGTACACTTCTACCAACTTTAGTGTTTCTCAGTGTGCTCTGGACCTAAGGTTCTTATTAAAATGTAGATTCCTTTGCTCCATCTAAGACCTATAAAACCAG... | TTCTTTTCAAACTGCCAAGCCTTGGGAAAATCACCTGTTTAAAAGTTTAAATTGCTACACCTCAGAATCTCTGGAAGATGGAGCCTAAGATTCTACATTTTAACAGGTTCTCCCAGTGATTCTGATGCAAATTAAAGTTTTCAAGTCCATACTTTACAGTATGTGTTTGTCTGTTAACTATCGGCCCCTGTAGATATAATGTGAAACCTTTAAACTGATTGTACACTTCTACCAACTTTAGTGTTTCTCAGTGTGCTCTGGACCTAAGGTTCTTATTAAAATGTAGATTCCTTTGCTCCATCTAAGACCTATAAAACCAG... |
Task1_train_30758 | This variant affects the gene PRPS1 (phosphoribosyl pyrophosphate synthetase 1) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Charcot-Marie-Tooth disease X-linked recessive 5 | AACTGCCAAGCCTTGGGAAAATCACCTGTTTAAAAGTTTAAATTGCTACACCTCAGAATCTCTGGAAGATGGAGCCTAAGATTCTACATTTTAACAGGTTCTCCCAGTGATTCTGATGCAAATTAAAGTTTTCAAGTCCATACTTTACAGTATGTGTTTGTCTGTTAACTATCGGCCCCTGTAGATATAATGTGAAACCTTTAAACTGATTGTACACTTCTACCAACTTTAGTGTTTCTCAGTGTGCTCTGGACCTAAGGTTCTTATTAAAATGTAGATTCCTTTGCTCCATCTAAGACCTATAAAACCAGAGGTCCTGG... | AACTGCCAAGCCTTGGGAAAATCACCTGTTTAAAAGTTTAAATTGCTACACCTCAGAATCTCTGGAAGATGGAGCCTAAGATTCTACATTTTAACAGGTTCTCCCAGTGATTCTGATGCAAATTAAAGTTTTCAAGTCCATACTTTACAGTATGTGTTTGTCTGTTAACTATCGGCCCCTGTAGATATAATGTGAAACCTTTAAACTGATTGTACACTTCTACCAACTTTAGTGTTTCTCAGTGTGCTCTGGACCTAAGGTTCTTATTAAAATGTAGATTCCTTTGCTCCATCTAAGACCTATAAAACCAGAGGTCCTGG... |
Task1_train_30759 | A mutation in LOC101928335, MID2 (uncharacterized LOC101928335| midline 2), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Intellectual disability, X-linked 101 | TAGCACAATATATTGTTGTAATGTTATCTTAATATTGTGCCTGTGGAGGAGGATACTCTTTTCTTGACATACATAAATCTCCTTACCCTCTTTCCAAAAGAACAGCAGGAGGAAAGGGTACTGGAGTAAAGGGAATTGTTCAGTGGGAATAACATGCCCCCATCTCATCTGTCCTTCTGCCCAGCCTTCCATTAACCATCATGATCTACCAGAGGCCTGGAGAGCTTCCTAACTGTGGTGCTTCAATGCCCTTGCATCATTAATATCATCATCTCTACCCTTCTTCTAGGAGTGGATCTTATGAGGGAGGTATGGAAGAA... | TAGCACAATATATTGTTGTAATGTTATCTTAATATTGTGCCTGTGGAGGAGGATACTCTTTTCTTGACATACATAAATCTCCTTACCCTCTTTCCAAAAGAACAGCAGGAGGAAAGGGTACTGGAGTAAAGGGAATTGTTCAGTGGGAATAACATGCCCCCATCTCATCTGTCCTTCTGCCCAGCCTTCCATTAACCATCATGATCTACCAGAGGCCTGGAGAGCTTCCTAACTGTGGTGCTTCAATGCCCTTGCATCATTAATATCATCATCTCTACCCTTCTTCTAGGAGTGGATCTTATGAGGGAGGTATGGAAGAA... |
Task1_train_30760 | Here is a genetic alteration in COL4A6 (collagen type IV alpha 6 chain) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Hearing loss, X-linked 6 | AAAATTCGAAAATTATCCAGGTGTGGTGGAGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTACAGCCTGGGTGAGAGTAAGACTTCATTTCAGAAAAAAAAAAAAAAGGAAAATGTCCTTACAACCTTCACAATAATTTGTGAAATGATATATTGACTCGGTTTAAAGAATCTTGAATTATCAAGTTTTAACCTGTACCATCTACCATCAACCTTATTACACCGATTCACAAAAATAGATTTGGAAATAAAT... | AAAATTCGAAAATTATCCAGGTGTGGTGGAGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTACAGCCTGGGTGAGAGTAAGACTTCATTTCAGAAAAAAAAAAAAAAGGAAAATGTCCTTACAACCTTCACAATAATTTGTGAAATGATATATTGACTCGGTTTAAAGAATCTTGAATTATCAAGTTTTAACCTGTACCATCTACCATCAACCTTATTACACCGATTCACAAAAATAGATTTGGAAATAAAT... |
Task1_train_30761 | 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 | GCCTGCTCCCAATTTCTCTGCAGTGACAGAAGTACCAGTATAGTCCCGGCCTGGCAAAGTAACCCGAAGTAAGAAAGAGGAGGGGAGCTCGGGGCAGCAACAGCTCACCCAGGGTGCATGCTTGCGGCTCCTCCGGAGCTGGGTCCCGGGAGACTGCTAAGCGGCTCCGCGGCCCGTGCTCATCTGGGCTCTGCTGATGCTTGGAGGCTGTTTCCTTACTCAGAACAGAGTAGGTGGACGAAGTGGCCCAGTTTGGAAGAAACTAAACACTGCTTCTAGATAAGAAGTGCTCCAAAGGGAAACAGGCTCAGCGGTGCCCG... | GCCTGCTCCCAATTTCTCTGCAGTGACAGAAGTACCAGTATAGTCCCGGCCTGGCAAAGTAACCCGAAGTAAGAAAGAGGAGGGGAGCTCGGGGCAGCAACAGCTCACCCAGGGTGCATGCTTGCGGCTCCTCCGGAGCTGGGTCCCGGGAGACTGCTAAGCGGCTCCGCGGCCCGTGCTCATCTGGGCTCTGCTGATGCTTGGAGGCTGTTTCCTTACTCAGAACAGAGTAGGTGGACGAAGTGGCCCAGTTTGGAAGAAACTAAACACTGCTTCTAGATAAGAAGTGCTCCAAAGGGAAACAGGCTCAGCGGTGCCCG... |
Task1_train_30762 | 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 | CCTGCTCCCAATTTCTCTGCAGTGACAGAAGTACCAGTATAGTCCCGGCCTGGCAAAGTAACCCGAAGTAAGAAAGAGGAGGGGAGCTCGGGGCAGCAACAGCTCACCCAGGGTGCATGCTTGCGGCTCCTCCGGAGCTGGGTCCCGGGAGACTGCTAAGCGGCTCCGCGGCCCGTGCTCATCTGGGCTCTGCTGATGCTTGGAGGCTGTTTCCTTACTCAGAACAGAGTAGGTGGACGAAGTGGCCCAGTTTGGAAGAAACTAAACACTGCTTCTAGATAAGAAGTGCTCCAAAGGGAAACAGGCTCAGCGGTGCCCGT... | CCTGCTCCCAATTTCTCTGCAGTGACAGAAGTACCAGTATAGTCCCGGCCTGGCAAAGTAACCCGAAGTAAGAAAGAGGAGGGGAGCTCGGGGCAGCAACAGCTCACCCAGGGTGCATGCTTGCGGCTCCTCCGGAGCTGGGTCCCGGGAGACTGCTAAGCGGCTCCGCGGCCCGTGCTCATCTGGGCTCTGCTGATGCTTGGAGGCTGTTTCCTTACTCAGAACAGAGTAGGTGGACGAAGTGGCCCAGTTTGGAAGAAACTAAACACTGCTTCTAGATAAGAAGTGCTCCAAAGGGAAACAGGCTCAGCGGTGCCCGT... |
Task1_train_30763 | A variant found in Chromosome X affects COL4A5 (collagen type IV alpha 5 chain). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; X-linked Alport syndrome | AAACCCATGCACATATATTCACATATAAAGTTCAGACATGCATTTCAGTGTCAAATGTTAATTATTCTTACATTAACAGCCATTTGGGGTTATCACTACTCTTTACCTCTCCATTAATGCATGAGTGTTGACAATATGCACAATTTAATTCAGGGACTACGACTGTTGACAGTTACTGTCTTGTGAACTTGTGAATCAGTATCTTCTTGTGAAACGGTATCTTCTAAATTTTATAAAATCCATAGTCTGGAACTTAAAATTTATGTTTGCAGAAAAATATTATATATTTTTAATTAACCTCTGTTTCCTGCACATTGTAA... | AAACCCATGCACATATATTCACATATAAAGTTCAGACATGCATTTCAGTGTCAAATGTTAATTATTCTTACATTAACAGCCATTTGGGGTTATCACTACTCTTTACCTCTCCATTAATGCATGAGTGTTGACAATATGCACAATTTAATTCAGGGACTACGACTGTTGACAGTTACTGTCTTGTGAACTTGTGAATCAGTATCTTCTTGTGAAACGGTATCTTCTAAATTTTATAAAATCCATAGTCTGGAACTTAAAATTTATGTTTGCAGAAAAATATTATATATTTTTAATTAACCTCTGTTTCCTGCACATTGTAA... |
Task1_train_30764 | 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 | TTATTCCTCTCTTATCTGTAGGCGAGATAGCAGTTTTGCTTCTGAGAAAATATGGCTTTCTTCAAGTATTATCCTCCAGTTTTGGCAGAGATATGCTGTAAATACCAGCTGAGATCCCAAAATGTACCTGTTTTCCCCTCATGAAAATCTACTGTAACTAGATTTTTTTTCCTTTGTGCTTTCTTTCTGACTGAAACTTGTGATCAGATTTCTACTACTAGCTCTGCCAGTAATAATTTGAGGGAATCTAGCTCTAAAAATTTTAAAACTTTTAATTTCTTCCTCTTGTTTTATTTCCTCAAAAACAATTGTGTTGAGGT... | TTATTCCTCTCTTATCTGTAGGCGAGATAGCAGTTTTGCTTCTGAGAAAATATGGCTTTCTTCAAGTATTATCCTCCAGTTTTGGCAGAGATATGCTGTAAATACCAGCTGAGATCCCAAAATGTACCTGTTTTCCCCTCATGAAAATCTACTGTAACTAGATTTTTTTTCCTTTGTGCTTTCTTTCTGACTGAAACTTGTGATCAGATTTCTACTACTAGCTCTGCCAGTAATAATTTGAGGGAATCTAGCTCTAAAAATTTTAAAACTTTTAATTTCTTCCTCTTGTTTTATTTCCTCAAAAACAATTGTGTTGAGGT... |
Task1_train_30765 | 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 | CCAGGCTGGAGAGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGCGTCCACCACAACGCCCGGCTAATTTTTTGTGATTTTTATTAGAGACGGGGTTTCACTGTGTTAACCATGATGGTCTGGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGAGCGGTTTTTATTGCTACTCGATTTGTCACTGTTTCAATGTCTTCTCAGTGGAAATATGTATTTTTAAGAGAAAAATTAACATGAGTTCATATTA... | CCAGGCTGGAGAGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGCGTCCACCACAACGCCCGGCTAATTTTTTGTGATTTTTATTAGAGACGGGGTTTCACTGTGTTAACCATGATGGTCTGGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGAGCGGTTTTTATTGCTACTCGATTTGTCACTGTTTCAATGTCTTCTCAGTGGAAATATGTATTTTTAAGAGAAAAATTAACATGAGTTCATATTA... |
Task1_train_30766 | 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; X-linked Alport syndrome | AACCATGATGGTCTGGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGAGCGGTTTTTATTGCTACTCGATTTGTCACTGTTTCAATGTCTTCTCAGTGGAAATATGTATTTTTAAGAGAAAAATTAACATGAGTTCATATTATTGCTTCCAATTGCAATTTAAAATTAAGAAAGGTTTTGTATACTTATTATCTCTTCCCCTCATCTCTCTCTCTATTGAGGTGAAAATGTTCATTCCTAATATCATAAATGTAATTTCTTATTTGCTTTTTCCTACAATATGCCTATTTCCTACAATATGCTTTAAA... | AACCATGATGGTCTGGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGAGCGGTTTTTATTGCTACTCGATTTGTCACTGTTTCAATGTCTTCTCAGTGGAAATATGTATTTTTAAGAGAAAAATTAACATGAGTTCATATTATTGCTTCCAATTGCAATTTAAAATTAAGAAAGGTTTTGTATACTTATTATCTCTTCCCCTCATCTCTCTCTCTATTGAGGTGAAAATGTTCATTCCTAATATCATAAATGTAATTTCTTATTTGCTTTTTCCTACAATATGCCTATTTCCTACAATATGCTTTAAA... |
Task1_train_30767 | 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; X-linked Alport syndrome | AAATAACCCTAACTTTAGATATAGCAAACATTTTTTTTTCTGATCCAATGTTTCTTCTCTTTAGTCAACTGTTGGATTGAATATAAAGTAATAGATAATAAGAAAAAATGAGGAAAATTTGCTCTGCTTGTAAGCTTACAATATTATAGCCAATTCTTATTCCCTCCCCTTTCTCCTTTTCCTTTAGGTTAATGCAATATATTGTTATTCTCTGTATTTTCTTTTGGTATTTTCTGTTTTTCACATAATATTCTGTAAAACTATTCATAAAATACCTTAGGTCCTTCTTTCTTTCTTTCTTTGTTTTTGTTTGTTTTTTG... | AAATAACCCTAACTTTAGATATAGCAAACATTTTTTTTTCTGATCCAATGTTTCTTCTCTTTAGTCAACTGTTGGATTGAATATAAAGTAATAGATAATAAGAAAAAATGAGGAAAATTTGCTCTGCTTGTAAGCTTACAATATTATAGCCAATTCTTATTCCCTCCCCTTTCTCCTTTTCCTTTAGGTTAATGCAATATATTGTTATTCTCTGTATTTTCTTTTGGTATTTTCTGTTTTTCACATAATATTCTGTAAAACTATTCATAAAATACCTTAGGTCCTTCTTTCTTTCTTTCTTTGTTTTTGTTTGTTTTTTG... |
Task1_train_30768 | 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 | TATAGCAAACATTTTTTTTTCTGATCCAATGTTTCTTCTCTTTAGTCAACTGTTGGATTGAATATAAAGTAATAGATAATAAGAAAAAATGAGGAAAATTTGCTCTGCTTGTAAGCTTACAATATTATAGCCAATTCTTATTCCCTCCCCTTTCTCCTTTTCCTTTAGGTTAATGCAATATATTGTTATTCTCTGTATTTTCTTTTGGTATTTTCTGTTTTTCACATAATATTCTGTAAAACTATTCATAAAATACCTTAGGTCCTTCTTTCTTTCTTTCTTTGTTTTTGTTTGTTTTTTGTTTTTTGTTTTTTGAGACA... | TATAGCAAACATTTTTTTTTCTGATCCAATGTTTCTTCTCTTTAGTCAACTGTTGGATTGAATATAAAGTAATAGATAATAAGAAAAAATGAGGAAAATTTGCTCTGCTTGTAAGCTTACAATATTATAGCCAATTCTTATTCCCTCCCCTTTCTCCTTTTCCTTTAGGTTAATGCAATATATTGTTATTCTCTGTATTTTCTTTTGGTATTTTCTGTTTTTCACATAATATTCTGTAAAACTATTCATAAAATACCTTAGGTCCTTCTTTCTTTCTTTCTTTGTTTTTGTTTGTTTTTTGTTTTTTGTTTTTTGAGACA... |
Task1_train_30769 | 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 | GGAAAATGTTTCAAAAAGAAGTTGGTAATATAGCTTTCTCCTGGGCAAAAGCAAGGATTTTGTATGTATATAAATGTCACCTCTAAGTATCCTAAGGTATATCCTATTCAGAAATGACGCTACAGCAGTCTACTCATTTTATACTCTATTTAGAAAGCATTCTGTAATTGGCGTGTTTCTCTCTCATACATATAAAATAATCCCTTTTCTTTTTAATAATAGGGACCCCCTGGGATCCCAGGTATGAAGGTAAGCATCTCATTCTGGGGAACAAATGTTTTGAATAAAATATTAGGAAAGCTGGCAACTTCAATAGGATA... | GGAAAATGTTTCAAAAAGAAGTTGGTAATATAGCTTTCTCCTGGGCAAAAGCAAGGATTTTGTATGTATATAAATGTCACCTCTAAGTATCCTAAGGTATATCCTATTCAGAAATGACGCTACAGCAGTCTACTCATTTTATACTCTATTTAGAAAGCATTCTGTAATTGGCGTGTTTCTCTCTCATACATATAAAATAATCCCTTTTCTTTTTAATAATAGGGACCCCCTGGGATCCCAGGTATGAAGGTAAGCATCTCATTCTGGGGAACAAATGTTTTGAATAAAATATTAGGAAAGCTGGCAACTTCAATAGGATA... |
Task1_train_30770 | A variant affecting Chromosome X, within the gene COL4A5 (collagen type IV alpha 5 chain), has been observed. Determine if it's benign or associated with disease. | Pathogenic; X-linked Alport syndrome | GAAAATGTTTCAAAAAGAAGTTGGTAATATAGCTTTCTCCTGGGCAAAAGCAAGGATTTTGTATGTATATAAATGTCACCTCTAAGTATCCTAAGGTATATCCTATTCAGAAATGACGCTACAGCAGTCTACTCATTTTATACTCTATTTAGAAAGCATTCTGTAATTGGCGTGTTTCTCTCTCATACATATAAAATAATCCCTTTTCTTTTTAATAATAGGGACCCCCTGGGATCCCAGGTATGAAGGTAAGCATCTCATTCTGGGGAACAAATGTTTTGAATAAAATATTAGGAAAGCTGGCAACTTCAATAGGATAA... | GAAAATGTTTCAAAAAGAAGTTGGTAATATAGCTTTCTCCTGGGCAAAAGCAAGGATTTTGTATGTATATAAATGTCACCTCTAAGTATCCTAAGGTATATCCTATTCAGAAATGACGCTACAGCAGTCTACTCATTTTATACTCTATTTAGAAAGCATTCTGTAATTGGCGTGTTTCTCTCTCATACATATAAAATAATCCCTTTTCTTTTTAATAATAGGGACCCCCTGGGATCCCAGGTATGAAGGTAAGCATCTCATTCTGGGGAACAAATGTTTTGAATAAAATATTAGGAAAGCTGGCAACTTCAATAGGATAA... |
Task1_train_30771 | 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 | AATAGGGTTCTATATTCTTATTCTTGTACTGTGGAGAGCAGTAGGGTCTTTTGTACATTTACAAAAGACCTAATTAAAAATAAAAATTATGGAAGTCCCATTGAATATATTAAGATATATCATTTGTAACACTATCAGTTATGCATAATATATGAACATATTTTGAAGGCTGAAGGAATACAGTTTATGCATGGTGAACATCAAATGTAATCTTAAGAAAAAAATTTTAGCCTACAGAAAACATGCATAGAGAGAGCAGTAACTTTTGAGTATAGATTAGGAGGTCAATTTCTTAGGGTTTATATTTCATGATAATCGAA... | AATAGGGTTCTATATTCTTATTCTTGTACTGTGGAGAGCAGTAGGGTCTTTTGTACATTTACAAAAGACCTAATTAAAAATAAAAATTATGGAAGTCCCATTGAATATATTAAGATATATCATTTGTAACACTATCAGTTATGCATAATATATGAACATATTTTGAAGGCTGAAGGAATACAGTTTATGCATGGTGAACATCAAATGTAATCTTAAGAAAAAAATTTTAGCCTACAGAAAACATGCATAGAGAGAGCAGTAACTTTTGAGTATAGATTAGGAGGTCAATTTCTTAGGGTTTATATTTCATGATAATCGAA... |
Task1_train_30772 | 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 | TATATTCTTATTCTTGTACTGTGGAGAGCAGTAGGGTCTTTTGTACATTTACAAAAGACCTAATTAAAAATAAAAATTATGGAAGTCCCATTGAATATATTAAGATATATCATTTGTAACACTATCAGTTATGCATAATATATGAACATATTTTGAAGGCTGAAGGAATACAGTTTATGCATGGTGAACATCAAATGTAATCTTAAGAAAAAAATTTTAGCCTACAGAAAACATGCATAGAGAGAGCAGTAACTTTTGAGTATAGATTAGGAGGTCAATTTCTTAGGGTTTATATTTCATGATAATCGAATCCTTTGCCA... | TATATTCTTATTCTTGTACTGTGGAGAGCAGTAGGGTCTTTTGTACATTTACAAAAGACCTAATTAAAAATAAAAATTATGGAAGTCCCATTGAATATATTAAGATATATCATTTGTAACACTATCAGTTATGCATAATATATGAACATATTTTGAAGGCTGAAGGAATACAGTTTATGCATGGTGAACATCAAATGTAATCTTAAGAAAAAAATTTTAGCCTACAGAAAACATGCATAGAGAGAGCAGTAACTTTTGAGTATAGATTAGGAGGTCAATTTCTTAGGGTTTATATTTCATGATAATCGAATCCTTTGCCA... |
Task1_train_30773 | 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 | TATATTCTTATTCTTGTACTGTGGAGAGCAGTAGGGTCTTTTGTACATTTACAAAAGACCTAATTAAAAATAAAAATTATGGAAGTCCCATTGAATATATTAAGATATATCATTTGTAACACTATCAGTTATGCATAATATATGAACATATTTTGAAGGCTGAAGGAATACAGTTTATGCATGGTGAACATCAAATGTAATCTTAAGAAAAAAATTTTAGCCTACAGAAAACATGCATAGAGAGAGCAGTAACTTTTGAGTATAGATTAGGAGGTCAATTTCTTAGGGTTTATATTTCATGATAATCGAATCCTTTGCCA... | TATATTCTTATTCTTGTACTGTGGAGAGCAGTAGGGTCTTTTGTACATTTACAAAAGACCTAATTAAAAATAAAAATTATGGAAGTCCCATTGAATATATTAAGATATATCATTTGTAACACTATCAGTTATGCATAATATATGAACATATTTTGAAGGCTGAAGGAATACAGTTTATGCATGGTGAACATCAAATGTAATCTTAAGAAAAAAATTTTAGCCTACAGAAAACATGCATAGAGAGAGCAGTAACTTTTGAGTATAGATTAGGAGGTCAATTTCTTAGGGTTTATATTTCATGATAATCGAATCCTTTGCCA... |
Task1_train_30774 | 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 | CTGTGGAGAGCAGTAGGGTCTTTTGTACATTTACAAAAGACCTAATTAAAAATAAAAATTATGGAAGTCCCATTGAATATATTAAGATATATCATTTGTAACACTATCAGTTATGCATAATATATGAACATATTTTGAAGGCTGAAGGAATACAGTTTATGCATGGTGAACATCAAATGTAATCTTAAGAAAAAAATTTTAGCCTACAGAAAACATGCATAGAGAGAGCAGTAACTTTTGAGTATAGATTAGGAGGTCAATTTCTTAGGGTTTATATTTCATGATAATCGAATCCTTTGCCAAAAATGAAAAATCAAAAC... | CTGTGGAGAGCAGTAGGGTCTTTTGTACATTTACAAAAGACCTAATTAAAAATAAAAATTATGGAAGTCCCATTGAATATATTAAGATATATCATTTGTAACACTATCAGTTATGCATAATATATGAACATATTTTGAAGGCTGAAGGAATACAGTTTATGCATGGTGAACATCAAATGTAATCTTAAGAAAAAAATTTTAGCCTACAGAAAACATGCATAGAGAGAGCAGTAACTTTTGAGTATAGATTAGGAGGTCAATTTCTTAGGGTTTATATTTCATGATAATCGAATCCTTTGCCAAAAATGAAAAATCAAAAC... |
Task1_train_30775 | 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 | TACTTGAAAACATAATGCATTCTCAACATTCATAATTTATAATTTTCTTATGTAAAGGTGACTTTACAATGATATGGTGAATAATATGCATTCTAAGTAATGGCTCCATTTTATAGATGGAAAAATGAGGTATATAAAAGGAAAGATTTACAATGAAATATTTTGTTGGTTGCTCTTGATGTATCAGTGTTGAAGTCAATTCTGGCCATTTCAGAAAGTCTTTTAAGGCAGTTTTCTAATCACTTGATGAAACATGTTTCTTCAAACTGCAATTGTTTGTTTAAGAAGAGCAAAAGCAGGGCTTCATAAAAAATATTGGC... | TACTTGAAAACATAATGCATTCTCAACATTCATAATTTATAATTTTCTTATGTAAAGGTGACTTTACAATGATATGGTGAATAATATGCATTCTAAGTAATGGCTCCATTTTATAGATGGAAAAATGAGGTATATAAAAGGAAAGATTTACAATGAAATATTTTGTTGGTTGCTCTTGATGTATCAGTGTTGAAGTCAATTCTGGCCATTTCAGAAAGTCTTTTAAGGCAGTTTTCTAATCACTTGATGAAACATGTTTCTTCAAACTGCAATTGTTTGTTTAAGAAGAGCAAAAGCAGGGCTTCATAAAAAATATTGGC... |
Task1_train_30776 | 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 | ATGCATTCTCAACATTCATAATTTATAATTTTCTTATGTAAAGGTGACTTTACAATGATATGGTGAATAATATGCATTCTAAGTAATGGCTCCATTTTATAGATGGAAAAATGAGGTATATAAAAGGAAAGATTTACAATGAAATATTTTGTTGGTTGCTCTTGATGTATCAGTGTTGAAGTCAATTCTGGCCATTTCAGAAAGTCTTTTAAGGCAGTTTTCTAATCACTTGATGAAACATGTTTCTTCAAACTGCAATTGTTTGTTTAAGAAGAGCAAAAGCAGGGCTTCATAAAAAATATTGGCTCTCATTTCCTAGG... | ATGCATTCTCAACATTCATAATTTATAATTTTCTTATGTAAAGGTGACTTTACAATGATATGGTGAATAATATGCATTCTAAGTAATGGCTCCATTTTATAGATGGAAAAATGAGGTATATAAAAGGAAAGATTTACAATGAAATATTTTGTTGGTTGCTCTTGATGTATCAGTGTTGAAGTCAATTCTGGCCATTTCAGAAAGTCTTTTAAGGCAGTTTTCTAATCACTTGATGAAACATGTTTCTTCAAACTGCAATTGTTTGTTTAAGAAGAGCAAAAGCAGGGCTTCATAAAAAATATTGGCTCTCATTTCCTAGG... |
Task1_train_30777 | 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; X-linked Alport syndrome | TCAATTCTGGCCATTTCAGAAAGTCTTTTAAGGCAGTTTTCTAATCACTTGATGAAACATGTTTCTTCAAACTGCAATTGTTTGTTTAAGAAGAGCAAAAGCAGGGCTTCATAAAAAATATTGGCTCTCATTTCCTAGGCGCCTGGGACAAAACAGTAGAATTGGTGAGGGGAGTGATCACTATGCAATTGGTCACAGGTTTTTGTACCCCAAAAACTTCTACAGATCCTGAATGTGCAACCGGTTCTCTTACTTTACTAGCTCTGTAGTCACTCTTATTTTCTATCCTAGTAAATTCTAAGTATTTTTACTTCTGCAAT... | TCAATTCTGGCCATTTCAGAAAGTCTTTTAAGGCAGTTTTCTAATCACTTGATGAAACATGTTTCTTCAAACTGCAATTGTTTGTTTAAGAAGAGCAAAAGCAGGGCTTCATAAAAAATATTGGCTCTCATTTCCTAGGCGCCTGGGACAAAACAGTAGAATTGGTGAGGGGAGTGATCACTATGCAATTGGTCACAGGTTTTTGTACCCCAAAAACTTCTACAGATCCTGAATGTGCAACCGGTTCTCTTACTTTACTAGCTCTGTAGTCACTCTTATTTTCTATCCTAGTAAATTCTAAGTATTTTTACTTCTGCAAT... |
Task1_train_30778 | 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; X-linked Alport syndrome | ATTATTAATTTTTTTTTTTTTTTTGAGACTAAGTCTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGTGCCCACCACCACACCCTGCTAATTATTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTTCAGGCATAAGCCACCATGCCTGGCCAAGATCATTAAATTT... | ATTATTAATTTTTTTTTTTTTTTTGAGACTAAGTCTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGTGCCCACCACCACACCCTGCTAATTATTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTTCAGGCATAAGCCACCATGCCTGGCCAAGATCATTAAATTT... |
Task1_train_30779 | 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 | ATTATTAATTTTTTTTTTTTTTTTGAGACTAAGTCTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGTGCCCACCACCACACCCTGCTAATTATTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTTCAGGCATAAGCCACCATGCCTGGCCAAGATCATTAAATTT... | ATTATTAATTTTTTTTTTTTTTTTGAGACTAAGTCTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGTGCCCACCACCACACCCTGCTAATTATTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTTCAGGCATAAGCCACCATGCCTGGCCAAGATCATTAAATTT... |
Task1_train_30780 | 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 | TTTTTTTTTTTTTTGAGACTAAGTCTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGTGCCCACCACCACACCCTGCTAATTATTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTTCAGGCATAAGCCACCATGCCTGGCCAAGATCATTAAATTTTCAAAATAAC... | TTTTTTTTTTTTTTGAGACTAAGTCTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGTGCCCACCACCACACCCTGCTAATTATTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTTCAGGCATAAGCCACCATGCCTGGCCAAGATCATTAAATTTTCAAAATAAC... |
Task1_train_30781 | 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 | CCAAAGTGTTGGGATTTCAGGCATAAGCCACCATGCCTGGCCAAGATCATTAAATTTTCAAAATAACTTTATCAAGATACAGTCTACATACATATAATCCACCCATTTAAAGTGTACAATTCAATTTTTTTTTTAGTGCATTCACAGGGTAGTGAAACTATCAGTGCAATCTAACTTTAGAAAATTCTGAGGCTTCCTCAAAAAAATCTCCATACCTATGTTAGTTGTACTCCTTATTTCTCCCCAAATTGACCAGCCCTAGGTAATCACTAATCTACTTCTTGGCTCTGTAAATTTTTCTATTCTGAATATTTCATATA... | CCAAAGTGTTGGGATTTCAGGCATAAGCCACCATGCCTGGCCAAGATCATTAAATTTTCAAAATAACTTTATCAAGATACAGTCTACATACATATAATCCACCCATTTAAAGTGTACAATTCAATTTTTTTTTTAGTGCATTCACAGGGTAGTGAAACTATCAGTGCAATCTAACTTTAGAAAATTCTGAGGCTTCCTCAAAAAAATCTCCATACCTATGTTAGTTGTACTCCTTATTTCTCCCCAAATTGACCAGCCCTAGGTAATCACTAATCTACTTCTTGGCTCTGTAAATTTTTCTATTCTGAATATTTCATATA... |
Task1_train_30782 | 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 | GTCTACTTAATATAGTCCAAGCCAGGAATAAAGCTTGTTATATTCTTTAACTTTATGCTTCCTAACTAACAAATGTATGTTGTTGCCCTATCATTTCTTTGTATCCTATAGGGTAAACCAGGCAAAGATGGAGAAAATGGCCAACCAGGAATTCCTGTAAGTAGCTAAGGTTCTTTCCCCCTGCAAAACTGGAGACATTTATGTGTTGGTATAACATAAGGTGGCAGAGAAGCAGTATGACAAAAATTGTGGGGTCTGGAAATAGTTTAAATGAATTGAAATTATCCAGTCTTTGTCTTTTGAATATAATTTTCAATTTT... | GTCTACTTAATATAGTCCAAGCCAGGAATAAAGCTTGTTATATTCTTTAACTTTATGCTTCCTAACTAACAAATGTATGTTGTTGCCCTATCATTTCTTTGTATCCTATAGGGTAAACCAGGCAAAGATGGAGAAAATGGCCAACCAGGAATTCCTGTAAGTAGCTAAGGTTCTTTCCCCCTGCAAAACTGGAGACATTTATGTGTTGGTATAACATAAGGTGGCAGAGAAGCAGTATGACAAAAATTGTGGGGTCTGGAAATAGTTTAAATGAATTGAAATTATCCAGTCTTTGTCTTTTGAATATAATTTTCAATTTT... |
Task1_train_30783 | A genomic change on Chromosome X affects COL4A5 (collagen type IV alpha 5 chain). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Inborn genetic diseases | GTCTACTTAATATAGTCCAAGCCAGGAATAAAGCTTGTTATATTCTTTAACTTTATGCTTCCTAACTAACAAATGTATGTTGTTGCCCTATCATTTCTTTGTATCCTATAGGGTAAACCAGGCAAAGATGGAGAAAATGGCCAACCAGGAATTCCTGTAAGTAGCTAAGGTTCTTTCCCCCTGCAAAACTGGAGACATTTATGTGTTGGTATAACATAAGGTGGCAGAGAAGCAGTATGACAAAAATTGTGGGGTCTGGAAATAGTTTAAATGAATTGAAATTATCCAGTCTTTGTCTTTTGAATATAATTTTCAATTTT... | GTCTACTTAATATAGTCCAAGCCAGGAATAAAGCTTGTTATATTCTTTAACTTTATGCTTCCTAACTAACAAATGTATGTTGTTGCCCTATCATTTCTTTGTATCCTATAGGGTAAACCAGGCAAAGATGGAGAAAATGGCCAACCAGGAATTCCTGTAAGTAGCTAAGGTTCTTTCCCCCTGCAAAACTGGAGACATTTATGTGTTGGTATAACATAAGGTGGCAGAGAAGCAGTATGACAAAAATTGTGGGGTCTGGAAATAGTTTAAATGAATTGAAATTATCCAGTCTTTGTCTTTTGAATATAATTTTCAATTTT... |
Task1_train_30784 | 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 | GTCTACTTAATATAGTCCAAGCCAGGAATAAAGCTTGTTATATTCTTTAACTTTATGCTTCCTAACTAACAAATGTATGTTGTTGCCCTATCATTTCTTTGTATCCTATAGGGTAAACCAGGCAAAGATGGAGAAAATGGCCAACCAGGAATTCCTGTAAGTAGCTAAGGTTCTTTCCCCCTGCAAAACTGGAGACATTTATGTGTTGGTATAACATAAGGTGGCAGAGAAGCAGTATGACAAAAATTGTGGGGTCTGGAAATAGTTTAAATGAATTGAAATTATCCAGTCTTTGTCTTTTGAATATAATTTTCAATTTT... | GTCTACTTAATATAGTCCAAGCCAGGAATAAAGCTTGTTATATTCTTTAACTTTATGCTTCCTAACTAACAAATGTATGTTGTTGCCCTATCATTTCTTTGTATCCTATAGGGTAAACCAGGCAAAGATGGAGAAAATGGCCAACCAGGAATTCCTGTAAGTAGCTAAGGTTCTTTCCCCCTGCAAAACTGGAGACATTTATGTGTTGGTATAACATAAGGTGGCAGAGAAGCAGTATGACAAAAATTGTGGGGTCTGGAAATAGTTTAAATGAATTGAAATTATCCAGTCTTTGTCTTTTGAATATAATTTTCAATTTT... |
Task1_train_30785 | 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 | TCTACTTAATATAGTCCAAGCCAGGAATAAAGCTTGTTATATTCTTTAACTTTATGCTTCCTAACTAACAAATGTATGTTGTTGCCCTATCATTTCTTTGTATCCTATAGGGTAAACCAGGCAAAGATGGAGAAAATGGCCAACCAGGAATTCCTGTAAGTAGCTAAGGTTCTTTCCCCCTGCAAAACTGGAGACATTTATGTGTTGGTATAACATAAGGTGGCAGAGAAGCAGTATGACAAAAATTGTGGGGTCTGGAAATAGTTTAAATGAATTGAAATTATCCAGTCTTTGTCTTTTGAATATAATTTTCAATTTTT... | TCTACTTAATATAGTCCAAGCCAGGAATAAAGCTTGTTATATTCTTTAACTTTATGCTTCCTAACTAACAAATGTATGTTGTTGCCCTATCATTTCTTTGTATCCTATAGGGTAAACCAGGCAAAGATGGAGAAAATGGCCAACCAGGAATTCCTGTAAGTAGCTAAGGTTCTTTCCCCCTGCAAAACTGGAGACATTTATGTGTTGGTATAACATAAGGTGGCAGAGAAGCAGTATGACAAAAATTGTGGGGTCTGGAAATAGTTTAAATGAATTGAAATTATCCAGTCTTTGTCTTTTGAATATAATTTTCAATTTTT... |
Task1_train_30786 | Here is a variant affecting COL4A5 (collagen type IV alpha 5 chain) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; X-linked Alport syndrome | ATGATAATTCTCTGGATATGGGGCTTTGAAGGAGCTCCAACCCTGTTCTTTCCTCTCCAATTGCTGCTAGGCTGCTGGTTTTCACCTTGATTGTGAGGAGAGGTGGTGTGAATAGAGCAAGTTAAAATGCCACAAAGCTCTGAGAGGTGGTGGGAATAGAGCAAGTTAAAATGCCATAAATCTCTGAGAGGTGGTAGGAATAGAGCAAGTTAAAATGCCACAAAGCTCTGAGTTCTCACCAAGATTCAGCTTTTTTTTTTTTTTTTTTTCTGAGAAAACACTCCTTGAATTGCTGCAAGCTTTGGTTAAGTTCTGAAAGT... | ATGATAATTCTCTGGATATGGGGCTTTGAAGGAGCTCCAACCCTGTTCTTTCCTCTCCAATTGCTGCTAGGCTGCTGGTTTTCACCTTGATTGTGAGGAGAGGTGGTGTGAATAGAGCAAGTTAAAATGCCACAAAGCTCTGAGAGGTGGTGGGAATAGAGCAAGTTAAAATGCCATAAATCTCTGAGAGGTGGTAGGAATAGAGCAAGTTAAAATGCCACAAAGCTCTGAGTTCTCACCAAGATTCAGCTTTTTTTTTTTTTTTTTTTCTGAGAAAACACTCCTTGAATTGCTGCAAGCTTTGGTTAAGTTCTGAAAGT... |
Task1_train_30787 | 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 | ATGATAATTCTCTGGATATGGGGCTTTGAAGGAGCTCCAACCCTGTTCTTTCCTCTCCAATTGCTGCTAGGCTGCTGGTTTTCACCTTGATTGTGAGGAGAGGTGGTGTGAATAGAGCAAGTTAAAATGCCACAAAGCTCTGAGAGGTGGTGGGAATAGAGCAAGTTAAAATGCCATAAATCTCTGAGAGGTGGTAGGAATAGAGCAAGTTAAAATGCCACAAAGCTCTGAGTTCTCACCAAGATTCAGCTTTTTTTTTTTTTTTTTTTCTGAGAAAACACTCCTTGAATTGCTGCAAGCTTTGGTTAAGTTCTGAAAGT... | ATGATAATTCTCTGGATATGGGGCTTTGAAGGAGCTCCAACCCTGTTCTTTCCTCTCCAATTGCTGCTAGGCTGCTGGTTTTCACCTTGATTGTGAGGAGAGGTGGTGTGAATAGAGCAAGTTAAAATGCCACAAAGCTCTGAGAGGTGGTGGGAATAGAGCAAGTTAAAATGCCATAAATCTCTGAGAGGTGGTAGGAATAGAGCAAGTTAAAATGCCACAAAGCTCTGAGTTCTCACCAAGATTCAGCTTTTTTTTTTTTTTTTTTTCTGAGAAAACACTCCTTGAATTGCTGCAAGCTTTGGTTAAGTTCTGAAAGT... |
Task1_train_30788 | 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 | CTCTGGATATGGGGCTTTGAAGGAGCTCCAACCCTGTTCTTTCCTCTCCAATTGCTGCTAGGCTGCTGGTTTTCACCTTGATTGTGAGGAGAGGTGGTGTGAATAGAGCAAGTTAAAATGCCACAAAGCTCTGAGAGGTGGTGGGAATAGAGCAAGTTAAAATGCCATAAATCTCTGAGAGGTGGTAGGAATAGAGCAAGTTAAAATGCCACAAAGCTCTGAGTTCTCACCAAGATTCAGCTTTTTTTTTTTTTTTTTTTCTGAGAAAACACTCCTTGAATTGCTGCAAGCTTTGGTTAAGTTCTGAAAGTTAATTCTGA... | CTCTGGATATGGGGCTTTGAAGGAGCTCCAACCCTGTTCTTTCCTCTCCAATTGCTGCTAGGCTGCTGGTTTTCACCTTGATTGTGAGGAGAGGTGGTGTGAATAGAGCAAGTTAAAATGCCACAAAGCTCTGAGAGGTGGTGGGAATAGAGCAAGTTAAAATGCCATAAATCTCTGAGAGGTGGTAGGAATAGAGCAAGTTAAAATGCCACAAAGCTCTGAGTTCTCACCAAGATTCAGCTTTTTTTTTTTTTTTTTTTCTGAGAAAACACTCCTTGAATTGCTGCAAGCTTTGGTTAAGTTCTGAAAGTTAATTCTGA... |
Task1_train_30789 | 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 | AGAACACAAAATTTCAAGTCATTATCAATTTCTACTGGCTTAAAAGTCTTTACATCTAAAATCTTCAGTAATGTTGACCTCAAGGTCTTTGTATTGTTCTGCCTATGCATTACTTCTGCATGGTAAAGGTCTAAAATTATGGCATTGGGTTGTTTTGCCTCATGATTGCCAGATCATTTCTCAAGCAACCAGCAGGTGGTGCAAGTGTTGCTTACAAAGGTTCAATGAAAACAACAACAACAAAACAAAACTTGGGGAAGTTGGGGTGGGGGTGGGGGATTGGTCCTTTCCCCTGCAGAGCTCAGGAGAAAGATAGATTT... | AGAACACAAAATTTCAAGTCATTATCAATTTCTACTGGCTTAAAAGTCTTTACATCTAAAATCTTCAGTAATGTTGACCTCAAGGTCTTTGTATTGTTCTGCCTATGCATTACTTCTGCATGGTAAAGGTCTAAAATTATGGCATTGGGTTGTTTTGCCTCATGATTGCCAGATCATTTCTCAAGCAACCAGCAGGTGGTGCAAGTGTTGCTTACAAAGGTTCAATGAAAACAACAACAACAAAACAAAACTTGGGGAAGTTGGGGTGGGGGTGGGGGATTGGTCCTTTCCCCTGCAGAGCTCAGGAGAAAGATAGATTT... |
Task1_train_30790 | 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 | AATTTCAAGTCATTATCAATTTCTACTGGCTTAAAAGTCTTTACATCTAAAATCTTCAGTAATGTTGACCTCAAGGTCTTTGTATTGTTCTGCCTATGCATTACTTCTGCATGGTAAAGGTCTAAAATTATGGCATTGGGTTGTTTTGCCTCATGATTGCCAGATCATTTCTCAAGCAACCAGCAGGTGGTGCAAGTGTTGCTTACAAAGGTTCAATGAAAACAACAACAACAAAACAAAACTTGGGGAAGTTGGGGTGGGGGTGGGGGATTGGTCCTTTCCCCTGCAGAGCTCAGGAGAAAGATAGATTTGGTCTTAAT... | AATTTCAAGTCATTATCAATTTCTACTGGCTTAAAAGTCTTTACATCTAAAATCTTCAGTAATGTTGACCTCAAGGTCTTTGTATTGTTCTGCCTATGCATTACTTCTGCATGGTAAAGGTCTAAAATTATGGCATTGGGTTGTTTTGCCTCATGATTGCCAGATCATTTCTCAAGCAACCAGCAGGTGGTGCAAGTGTTGCTTACAAAGGTTCAATGAAAACAACAACAACAAAACAAAACTTGGGGAAGTTGGGGTGGGGGTGGGGGATTGGTCCTTTCCCCTGCAGAGCTCAGGAGAAAGATAGATTTGGTCTTAAT... |
Task1_train_30791 | 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 | ATTTCAAGTCATTATCAATTTCTACTGGCTTAAAAGTCTTTACATCTAAAATCTTCAGTAATGTTGACCTCAAGGTCTTTGTATTGTTCTGCCTATGCATTACTTCTGCATGGTAAAGGTCTAAAATTATGGCATTGGGTTGTTTTGCCTCATGATTGCCAGATCATTTCTCAAGCAACCAGCAGGTGGTGCAAGTGTTGCTTACAAAGGTTCAATGAAAACAACAACAACAAAACAAAACTTGGGGAAGTTGGGGTGGGGGTGGGGGATTGGTCCTTTCCCCTGCAGAGCTCAGGAGAAAGATAGATTTGGTCTTAATA... | ATTTCAAGTCATTATCAATTTCTACTGGCTTAAAAGTCTTTACATCTAAAATCTTCAGTAATGTTGACCTCAAGGTCTTTGTATTGTTCTGCCTATGCATTACTTCTGCATGGTAAAGGTCTAAAATTATGGCATTGGGTTGTTTTGCCTCATGATTGCCAGATCATTTCTCAAGCAACCAGCAGGTGGTGCAAGTGTTGCTTACAAAGGTTCAATGAAAACAACAACAACAAAACAAAACTTGGGGAAGTTGGGGTGGGGGTGGGGGATTGGTCCTTTCCCCTGCAGAGCTCAGGAGAAAGATAGATTTGGTCTTAATA... |
Task1_train_30792 | 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 | TCTAAAATCTTCAGTAATGTTGACCTCAAGGTCTTTGTATTGTTCTGCCTATGCATTACTTCTGCATGGTAAAGGTCTAAAATTATGGCATTGGGTTGTTTTGCCTCATGATTGCCAGATCATTTCTCAAGCAACCAGCAGGTGGTGCAAGTGTTGCTTACAAAGGTTCAATGAAAACAACAACAACAAAACAAAACTTGGGGAAGTTGGGGTGGGGGTGGGGGATTGGTCCTTTCCCCTGCAGAGCTCAGGAGAAAGATAGATTTGGTCTTAATAGGTTTTCTCAATTTGTAATTGTCTGATTCACACTTCTTTCTTTC... | TCTAAAATCTTCAGTAATGTTGACCTCAAGGTCTTTGTATTGTTCTGCCTATGCATTACTTCTGCATGGTAAAGGTCTAAAATTATGGCATTGGGTTGTTTTGCCTCATGATTGCCAGATCATTTCTCAAGCAACCAGCAGGTGGTGCAAGTGTTGCTTACAAAGGTTCAATGAAAACAACAACAACAAAACAAAACTTGGGGAAGTTGGGGTGGGGGTGGGGGATTGGTCCTTTCCCCTGCAGAGCTCAGGAGAAAGATAGATTTGGTCTTAATAGGTTTTCTCAATTTGTAATTGTCTGATTCACACTTCTTTCTTTC... |
Task1_train_30793 | 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 | GAAAATATATTAGTAAAGCATATTAAGTCTAAATCAGTACTGGTTATTTTTTAAAAAGGTGTTTTAAGTAACAACTTGGAGCTATAATTGTAAACATTATTAACGTGATGTGTAGATGCAGAGAGAATAAGGATAAGAGTTTTTGTCTTGTTAGGGAAAGATAATATAAATCTTGTTAACTGTATAAATTTTTAGAAATGTATACATGTTTAAGTACATAGGTTAAAATGTTAATAGTAGCCACTAGAGAAGAATAGAAATAAAATGTATAACATACACACCAATTGAAGAAAGAAAATGACTAAAAGTCTCATATATAG... | GAAAATATATTAGTAAAGCATATTAAGTCTAAATCAGTACTGGTTATTTTTTAAAAAGGTGTTTTAAGTAACAACTTGGAGCTATAATTGTAAACATTATTAACGTGATGTGTAGATGCAGAGAGAATAAGGATAAGAGTTTTTGTCTTGTTAGGGAAAGATAATATAAATCTTGTTAACTGTATAAATTTTTAGAAATGTATACATGTTTAAGTACATAGGTTAAAATGTTAATAGTAGCCACTAGAGAAGAATAGAAATAAAATGTATAACATACACACCAATTGAAGAAAGAAAATGACTAAAAGTCTCATATATAG... |
Task1_train_30794 | Gene COL4A5 (collagen type IV alpha 5 chain), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | TCTAAATCAGTACTGGTTATTTTTTAAAAAGGTGTTTTAAGTAACAACTTGGAGCTATAATTGTAAACATTATTAACGTGATGTGTAGATGCAGAGAGAATAAGGATAAGAGTTTTTGTCTTGTTAGGGAAAGATAATATAAATCTTGTTAACTGTATAAATTTTTAGAAATGTATACATGTTTAAGTACATAGGTTAAAATGTTAATAGTAGCCACTAGAGAAGAATAGAAATAAAATGTATAACATACACACCAATTGAAGAAAGAAAATGACTAAAAGTCTCATATATAGTATAAGTTAAGATGGGGGCAAAATAAA... | TCTAAATCAGTACTGGTTATTTTTTAAAAAGGTGTTTTAAGTAACAACTTGGAGCTATAATTGTAAACATTATTAACGTGATGTGTAGATGCAGAGAGAATAAGGATAAGAGTTTTTGTCTTGTTAGGGAAAGATAATATAAATCTTGTTAACTGTATAAATTTTTAGAAATGTATACATGTTTAAGTACATAGGTTAAAATGTTAATAGTAGCCACTAGAGAAGAATAGAAATAAAATGTATAACATACACACCAATTGAAGAAAGAAAATGACTAAAAGTCTCATATATAGTATAAGTTAAGATGGGGGCAAAATAAA... |
Task1_train_30795 | Here is a variant affecting COL4A5 (collagen type IV alpha 5 chain) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; X-linked Alport syndrome | TCTAAATCAGTACTGGTTATTTTTTAAAAAGGTGTTTTAAGTAACAACTTGGAGCTATAATTGTAAACATTATTAACGTGATGTGTAGATGCAGAGAGAATAAGGATAAGAGTTTTTGTCTTGTTAGGGAAAGATAATATAAATCTTGTTAACTGTATAAATTTTTAGAAATGTATACATGTTTAAGTACATAGGTTAAAATGTTAATAGTAGCCACTAGAGAAGAATAGAAATAAAATGTATAACATACACACCAATTGAAGAAAGAAAATGACTAAAAGTCTCATATATAGTATAAGTTAAGATGGGGGCAAAATAAA... | TCTAAATCAGTACTGGTTATTTTTTAAAAAGGTGTTTTAAGTAACAACTTGGAGCTATAATTGTAAACATTATTAACGTGATGTGTAGATGCAGAGAGAATAAGGATAAGAGTTTTTGTCTTGTTAGGGAAAGATAATATAAATCTTGTTAACTGTATAAATTTTTAGAAATGTATACATGTTTAAGTACATAGGTTAAAATGTTAATAGTAGCCACTAGAGAAGAATAGAAATAAAATGTATAACATACACACCAATTGAAGAAAGAAAATGACTAAAAGTCTCATATATAGTATAAGTTAAGATGGGGGCAAAATAAA... |
Task1_train_30796 | 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 | GTACTGGTTATTTTTTAAAAAGGTGTTTTAAGTAACAACTTGGAGCTATAATTGTAAACATTATTAACGTGATGTGTAGATGCAGAGAGAATAAGGATAAGAGTTTTTGTCTTGTTAGGGAAAGATAATATAAATCTTGTTAACTGTATAAATTTTTAGAAATGTATACATGTTTAAGTACATAGGTTAAAATGTTAATAGTAGCCACTAGAGAAGAATAGAAATAAAATGTATAACATACACACCAATTGAAGAAAGAAAATGACTAAAAGTCTCATATATAGTATAAGTTAAGATGGGGGCAAAATAAAGACAAATCT... | GTACTGGTTATTTTTTAAAAAGGTGTTTTAAGTAACAACTTGGAGCTATAATTGTAAACATTATTAACGTGATGTGTAGATGCAGAGAGAATAAGGATAAGAGTTTTTGTCTTGTTAGGGAAAGATAATATAAATCTTGTTAACTGTATAAATTTTTAGAAATGTATACATGTTTAAGTACATAGGTTAAAATGTTAATAGTAGCCACTAGAGAAGAATAGAAATAAAATGTATAACATACACACCAATTGAAGAAAGAAAATGACTAAAAGTCTCATATATAGTATAAGTTAAGATGGGGGCAAAATAAAGACAAATCT... |
Task1_train_30797 | 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; Inborn genetic diseases | GTACTGGTTATTTTTTAAAAAGGTGTTTTAAGTAACAACTTGGAGCTATAATTGTAAACATTATTAACGTGATGTGTAGATGCAGAGAGAATAAGGATAAGAGTTTTTGTCTTGTTAGGGAAAGATAATATAAATCTTGTTAACTGTATAAATTTTTAGAAATGTATACATGTTTAAGTACATAGGTTAAAATGTTAATAGTAGCCACTAGAGAAGAATAGAAATAAAATGTATAACATACACACCAATTGAAGAAAGAAAATGACTAAAAGTCTCATATATAGTATAAGTTAAGATGGGGGCAAAATAAAGACAAATCT... | GTACTGGTTATTTTTTAAAAAGGTGTTTTAAGTAACAACTTGGAGCTATAATTGTAAACATTATTAACGTGATGTGTAGATGCAGAGAGAATAAGGATAAGAGTTTTTGTCTTGTTAGGGAAAGATAATATAAATCTTGTTAACTGTATAAATTTTTAGAAATGTATACATGTTTAAGTACATAGGTTAAAATGTTAATAGTAGCCACTAGAGAAGAATAGAAATAAAATGTATAACATACACACCAATTGAAGAAAGAAAATGACTAAAAGTCTCATATATAGTATAAGTTAAGATGGGGGCAAAATAAAGACAAATCT... |
Task1_train_30798 | A variant affecting Chromosome X, within the gene COL4A5 (collagen type IV alpha 5 chain), has been observed. Determine if it's benign or associated with disease. | Pathogenic; X-linked Alport syndrome | GTACTGGTTATTTTTTAAAAAGGTGTTTTAAGTAACAACTTGGAGCTATAATTGTAAACATTATTAACGTGATGTGTAGATGCAGAGAGAATAAGGATAAGAGTTTTTGTCTTGTTAGGGAAAGATAATATAAATCTTGTTAACTGTATAAATTTTTAGAAATGTATACATGTTTAAGTACATAGGTTAAAATGTTAATAGTAGCCACTAGAGAAGAATAGAAATAAAATGTATAACATACACACCAATTGAAGAAAGAAAATGACTAAAAGTCTCATATATAGTATAAGTTAAGATGGGGGCAAAATAAAGACAAATCT... | GTACTGGTTATTTTTTAAAAAGGTGTTTTAAGTAACAACTTGGAGCTATAATTGTAAACATTATTAACGTGATGTGTAGATGCAGAGAGAATAAGGATAAGAGTTTTTGTCTTGTTAGGGAAAGATAATATAAATCTTGTTAACTGTATAAATTTTTAGAAATGTATACATGTTTAAGTACATAGGTTAAAATGTTAATAGTAGCCACTAGAGAAGAATAGAAATAAAATGTATAACATACACACCAATTGAAGAAAGAAAATGACTAAAAGTCTCATATATAGTATAAGTTAAGATGGGGGCAAAATAAAGACAAATCT... |
Task1_train_30799 | 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 | TAACAACTTGGAGCTATAATTGTAAACATTATTAACGTGATGTGTAGATGCAGAGAGAATAAGGATAAGAGTTTTTGTCTTGTTAGGGAAAGATAATATAAATCTTGTTAACTGTATAAATTTTTAGAAATGTATACATGTTTAAGTACATAGGTTAAAATGTTAATAGTAGCCACTAGAGAAGAATAGAAATAAAATGTATAACATACACACCAATTGAAGAAAGAAAATGACTAAAAGTCTCATATATAGTATAAGTTAAGATGGGGGCAAAATAAAGACAAATCTGGGTAAATAGAAAATAAAATATAAGGTGACAA... | TAACAACTTGGAGCTATAATTGTAAACATTATTAACGTGATGTGTAGATGCAGAGAGAATAAGGATAAGAGTTTTTGTCTTGTTAGGGAAAGATAATATAAATCTTGTTAACTGTATAAATTTTTAGAAATGTATACATGTTTAAGTACATAGGTTAAAATGTTAATAGTAGCCACTAGAGAAGAATAGAAATAAAATGTATAACATACACACCAATTGAAGAAAGAAAATGACTAAAAGTCTCATATATAGTATAAGTTAAGATGGGGGCAAAATAAAGACAAATCTGGGTAAATAGAAAATAAAATATAAGGTGACAA... |
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