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_7800 | Given a variant located on Chromosome 3 and affecting PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Gastric cancer | TGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGTTTTGCACCATGTTATCTAGGATAGTCTTGATCTCCTGACCTCGTGATCCACTCTCCGTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGCCCAGCCAAGTATCTATTTTTAGGATATACTTCTTGATAAGTAATATTAGTAAATAGCGTTTGTAAGCTTATTCTTTTAATTCTGTGATTAATTCGAGAGGCTGAAAATGTTGGCAGTTACTCCAGCTCCCAAATATA... | TGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGTTTTGCACCATGTTATCTAGGATAGTCTTGATCTCCTGACCTCGTGATCCACTCTCCGTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGCCCAGCCAAGTATCTATTTTTAGGATATACTTCTTGATAAGTAATATTAGTAAATAGCGTTTGTAAGCTTATTCTTTTAATTCTGTGATTAATTCGAGAGGCTGAAAATGTTGGCAGTTACTCCAGCTCCCAAATATA... |
Task1_train_7801 | This sequence variant lies in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Megalencephaly-capillary malformation-polymicrogyria syndrome | TGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGTTTTGCACCATGTTATCTAGGATAGTCTTGATCTCCTGACCTCGTGATCCACTCTCCGTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGCCCAGCCAAGTATCTATTTTTAGGATATACTTCTTGATAAGTAATATTAGTAAATAGCGTTTGTAAGCTTATTCTTTTAATTCTGTGATTAATTCGAGAGGCTGAAAATGTTGGCAGTTACTCCAGCTCCCAAATATA... | TGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGTTTTGCACCATGTTATCTAGGATAGTCTTGATCTCCTGACCTCGTGATCCACTCTCCGTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGCCCAGCCAAGTATCTATTTTTAGGATATACTTCTTGATAAGTAATATTAGTAAATAGCGTTTGTAAGCTTATTCTTTTAATTCTGTGATTAATTCGAGAGGCTGAAAATGTTGGCAGTTACTCCAGCTCCCAAATATA... |
Task1_train_7802 | Given a variant located on Chromosome 3 and affecting PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Seborrheic keratosis | TGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGTTTTGCACCATGTTATCTAGGATAGTCTTGATCTCCTGACCTCGTGATCCACTCTCCGTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGCCCAGCCAAGTATCTATTTTTAGGATATACTTCTTGATAAGTAATATTAGTAAATAGCGTTTGTAAGCTTATTCTTTTAATTCTGTGATTAATTCGAGAGGCTGAAAATGTTGGCAGTTACTCCAGCTCCCAAATATA... | TGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGTTTTGCACCATGTTATCTAGGATAGTCTTGATCTCCTGACCTCGTGATCCACTCTCCGTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGCCCAGCCAAGTATCTATTTTTAGGATATACTTCTTGATAAGTAATATTAGTAAATAGCGTTTGTAAGCTTATTCTTTTAATTCTGTGATTAATTCGAGAGGCTGAAAATGTTGGCAGTTACTCCAGCTCCCAAATATA... |
Task1_train_7803 | Here is a variant affecting PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; CLAPO syndrome | TGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGTTTTGCACCATGTTATCTAGGATAGTCTTGATCTCCTGACCTCGTGATCCACTCTCCGTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGCCCAGCCAAGTATCTATTTTTAGGATATACTTCTTGATAAGTAATATTAGTAAATAGCGTTTGTAAGCTTATTCTTTTAATTCTGTGATTAATTCGAGAGGCTGAAAATGTTGGCAGTTACTCCAGCTCCCAAATATA... | TGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGTTTTGCACCATGTTATCTAGGATAGTCTTGATCTCCTGACCTCGTGATCCACTCTCCGTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGCCCAGCCAAGTATCTATTTTTAGGATATACTTCTTGATAAGTAATATTAGTAAATAGCGTTTGTAAGCTTATTCTTTTAATTCTGTGATTAATTCGAGAGGCTGAAAATGTTGGCAGTTACTCCAGCTCCCAAATATA... |
Task1_train_7804 | A change on Chromosome 3 affects gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; CLOVES syndrome | TGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGTTTTGCACCATGTTATCTAGGATAGTCTTGATCTCCTGACCTCGTGATCCACTCTCCGTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGCCCAGCCAAGTATCTATTTTTAGGATATACTTCTTGATAAGTAATATTAGTAAATAGCGTTTGTAAGCTTATTCTTTTAATTCTGTGATTAATTCGAGAGGCTGAAAATGTTGGCAGTTACTCCAGCTCCCAAATATA... | TGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGTTTTGCACCATGTTATCTAGGATAGTCTTGATCTCCTGACCTCGTGATCCACTCTCCGTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGCCCAGCCAAGTATCTATTTTTAGGATATACTTCTTGATAAGTAATATTAGTAAATAGCGTTTGTAAGCTTATTCTTTTAATTCTGTGATTAATTCGAGAGGCTGAAAATGTTGGCAGTTACTCCAGCTCCCAAATATA... |
Task1_train_7805 | This is a variant in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha), located on Chromosome 3. Is this mutation a likely cause of disease or not? | Pathogenic; Cowden syndrome 5 | TGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGTTTTGCACCATGTTATCTAGGATAGTCTTGATCTCCTGACCTCGTGATCCACTCTCCGTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGCCCAGCCAAGTATCTATTTTTAGGATATACTTCTTGATAAGTAATATTAGTAAATAGCGTTTGTAAGCTTATTCTTTTAATTCTGTGATTAATTCGAGAGGCTGAAAATGTTGGCAGTTACTCCAGCTCCCAAATATA... | TGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGTTTTGCACCATGTTATCTAGGATAGTCTTGATCTCCTGACCTCGTGATCCACTCTCCGTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGCCCAGCCAAGTATCTATTTTTAGGATATACTTCTTGATAAGTAATATTAGTAAATAGCGTTTGTAAGCTTATTCTTTTAATTCTGTGATTAATTCGAGAGGCTGAAAATGTTGGCAGTTACTCCAGCTCCCAAATATA... |
Task1_train_7806 | Here is a genetic alteration in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Lung cancer | TGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGTTTTGCACCATGTTATCTAGGATAGTCTTGATCTCCTGACCTCGTGATCCACTCTCCGTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGCCCAGCCAAGTATCTATTTTTAGGATATACTTCTTGATAAGTAATATTAGTAAATAGCGTTTGTAAGCTTATTCTTTTAATTCTGTGATTAATTCGAGAGGCTGAAAATGTTGGCAGTTACTCCAGCTCCCAAATATA... | TGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGTTTTGCACCATGTTATCTAGGATAGTCTTGATCTCCTGACCTCGTGATCCACTCTCCGTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGCCCAGCCAAGTATCTATTTTTAGGATATACTTCTTGATAAGTAATATTAGTAAATAGCGTTTGTAAGCTTATTCTTTTAATTCTGTGATTAATTCGAGAGGCTGAAAATGTTGGCAGTTACTCCAGCTCCCAAATATA... |
Task1_train_7807 | Here is a mutation in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Neoplasm | TGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGTTTTGCACCATGTTATCTAGGATAGTCTTGATCTCCTGACCTCGTGATCCACTCTCCGTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGCCCAGCCAAGTATCTATTTTTAGGATATACTTCTTGATAAGTAATATTAGTAAATAGCGTTTGTAAGCTTATTCTTTTAATTCTGTGATTAATTCGAGAGGCTGAAAATGTTGGCAGTTACTCCAGCTCCCAAATATA... | TGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGTTTTGCACCATGTTATCTAGGATAGTCTTGATCTCCTGACCTCGTGATCCACTCTCCGTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACGCCCAGCCAAGTATCTATTTTTAGGATATACTTCTTGATAAGTAATATTAGTAAATAGCGTTTGTAAGCTTATTCTTTTAATTCTGTGATTAATTCGAGAGGCTGAAAATGTTGGCAGTTACTCCAGCTCCCAAATATA... |
Task1_train_7808 | Consider this mutation in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3. Is this a benign change or a disease-causing variant? | Pathogenic; Cowden syndrome 5 | ACTATTGATACTTTCCTACTCTCTTTTTCTGTTTATTAAATAAATACCTATAAGAAGCAACTACGTTTGTGCCAAGCATATGTCGAGTACTAATTTACATAACCAAGTAAAACCTGGGCCTGGCCTTCAGGTTGCTTATTTTCTAGTGGGGCTTATGGGTAAGAAAATAATGTGTATATAGTAACATTTATATTAAAAATCTCGTCTTAACTACCATTTCAAAATTCAGACCAGTATATTTTAACATTTTTTGTAAATATCCATAATGTTACTGGTCTCCACTATTTGTGGTTTTTTGTTTTAATTTTAGCAAAACTAAT... | ACTATTGATACTTTCCTACTCTCTTTTTCTGTTTATTAAATAAATACCTATAAGAAGCAACTACGTTTGTGCCAAGCATATGTCGAGTACTAATTTACATAACCAAGTAAAACCTGGGCCTGGCCTTCAGGTTGCTTATTTTCTAGTGGGGCTTATGGGTAAGAAAATAATGTGTATATAGTAACATTTATATTAAAAATCTCGTCTTAACTACCATTTCAAAATTCAGACCAGTATATTTTAACATTTTTTGTAAATATCCATAATGTTACTGGTCTCCACTATTTGTGGTTTTTTGTTTTAATTTTAGCAAAACTAAT... |
Task1_train_7809 | A variant affecting Chromosome 3, within the gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha), has been observed. Determine if it's benign or associated with disease. | Pathogenic; PIK3CA related overgrowth syndrome | TCTGTTTATTAAATAAATACCTATAAGAAGCAACTACGTTTGTGCCAAGCATATGTCGAGTACTAATTTACATAACCAAGTAAAACCTGGGCCTGGCCTTCAGGTTGCTTATTTTCTAGTGGGGCTTATGGGTAAGAAAATAATGTGTATATAGTAACATTTATATTAAAAATCTCGTCTTAACTACCATTTCAAAATTCAGACCAGTATATTTTAACATTTTTTGTAAATATCCATAATGTTACTGGTCTCCACTATTTGTGGTTTTTTGTTTTAATTTTAGCAAAACTAATGTTTCTCAGGAAATGTTTGGACAAAAA... | TCTGTTTATTAAATAAATACCTATAAGAAGCAACTACGTTTGTGCCAAGCATATGTCGAGTACTAATTTACATAACCAAGTAAAACCTGGGCCTGGCCTTCAGGTTGCTTATTTTCTAGTGGGGCTTATGGGTAAGAAAATAATGTGTATATAGTAACATTTATATTAAAAATCTCGTCTTAACTACCATTTCAAAATTCAGACCAGTATATTTTAACATTTTTTGTAAATATCCATAATGTTACTGGTCTCCACTATTTGTGGTTTTTTGTTTTAATTTTAGCAAAACTAATGTTTCTCAGGAAATGTTTGGACAAAAA... |
Task1_train_7810 | A genetic alteration is present in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Cowden syndrome | TCTGTTTATTAAATAAATACCTATAAGAAGCAACTACGTTTGTGCCAAGCATATGTCGAGTACTAATTTACATAACCAAGTAAAACCTGGGCCTGGCCTTCAGGTTGCTTATTTTCTAGTGGGGCTTATGGGTAAGAAAATAATGTGTATATAGTAACATTTATATTAAAAATCTCGTCTTAACTACCATTTCAAAATTCAGACCAGTATATTTTAACATTTTTTGTAAATATCCATAATGTTACTGGTCTCCACTATTTGTGGTTTTTTGTTTTAATTTTAGCAAAACTAATGTTTCTCAGGAAATGTTTGGACAAAAA... | TCTGTTTATTAAATAAATACCTATAAGAAGCAACTACGTTTGTGCCAAGCATATGTCGAGTACTAATTTACATAACCAAGTAAAACCTGGGCCTGGCCTTCAGGTTGCTTATTTTCTAGTGGGGCTTATGGGTAAGAAAATAATGTGTATATAGTAACATTTATATTAAAAATCTCGTCTTAACTACCATTTCAAAATTCAGACCAGTATATTTTAACATTTTTTGTAAATATCCATAATGTTACTGGTCTCCACTATTTGTGGTTTTTTGTTTTAATTTTAGCAAAACTAATGTTTCTCAGGAAATGTTTGGACAAAAA... |
Task1_train_7811 | This is a variant in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha), located on Chromosome 3. Is this mutation a likely cause of disease or not? | Pathogenic; PIK3CA-related disorder | TCTGTTTATTAAATAAATACCTATAAGAAGCAACTACGTTTGTGCCAAGCATATGTCGAGTACTAATTTACATAACCAAGTAAAACCTGGGCCTGGCCTTCAGGTTGCTTATTTTCTAGTGGGGCTTATGGGTAAGAAAATAATGTGTATATAGTAACATTTATATTAAAAATCTCGTCTTAACTACCATTTCAAAATTCAGACCAGTATATTTTAACATTTTTTGTAAATATCCATAATGTTACTGGTCTCCACTATTTGTGGTTTTTTGTTTTAATTTTAGCAAAACTAATGTTTCTCAGGAAATGTTTGGACAAAAA... | TCTGTTTATTAAATAAATACCTATAAGAAGCAACTACGTTTGTGCCAAGCATATGTCGAGTACTAATTTACATAACCAAGTAAAACCTGGGCCTGGCCTTCAGGTTGCTTATTTTCTAGTGGGGCTTATGGGTAAGAAAATAATGTGTATATAGTAACATTTATATTAAAAATCTCGTCTTAACTACCATTTCAAAATTCAGACCAGTATATTTTAACATTTTTTGTAAATATCCATAATGTTACTGGTCTCCACTATTTGTGGTTTTTTGTTTTAATTTTAGCAAAACTAATGTTTCTCAGGAAATGTTTGGACAAAAA... |
Task1_train_7812 | With a mutation on Chromosome 3 in gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Angioosteohypertrophic syndrome | TCTGTTTATTAAATAAATACCTATAAGAAGCAACTACGTTTGTGCCAAGCATATGTCGAGTACTAATTTACATAACCAAGTAAAACCTGGGCCTGGCCTTCAGGTTGCTTATTTTCTAGTGGGGCTTATGGGTAAGAAAATAATGTGTATATAGTAACATTTATATTAAAAATCTCGTCTTAACTACCATTTCAAAATTCAGACCAGTATATTTTAACATTTTTTGTAAATATCCATAATGTTACTGGTCTCCACTATTTGTGGTTTTTTGTTTTAATTTTAGCAAAACTAATGTTTCTCAGGAAATGTTTGGACAAAAA... | TCTGTTTATTAAATAAATACCTATAAGAAGCAACTACGTTTGTGCCAAGCATATGTCGAGTACTAATTTACATAACCAAGTAAAACCTGGGCCTGGCCTTCAGGTTGCTTATTTTCTAGTGGGGCTTATGGGTAAGAAAATAATGTGTATATAGTAACATTTATATTAAAAATCTCGTCTTAACTACCATTTCAAAATTCAGACCAGTATATTTTAACATTTTTTGTAAATATCCATAATGTTACTGGTCTCCACTATTTGTGGTTTTTTGTTTTAATTTTAGCAAAACTAATGTTTCTCAGGAAATGTTTGGACAAAAA... |
Task1_train_7813 | This variant lies on Chromosome 3 and affects the gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Megalencephaly-capillary malformation-polymicrogyria syndrome | TCTGTTTATTAAATAAATACCTATAAGAAGCAACTACGTTTGTGCCAAGCATATGTCGAGTACTAATTTACATAACCAAGTAAAACCTGGGCCTGGCCTTCAGGTTGCTTATTTTCTAGTGGGGCTTATGGGTAAGAAAATAATGTGTATATAGTAACATTTATATTAAAAATCTCGTCTTAACTACCATTTCAAAATTCAGACCAGTATATTTTAACATTTTTTGTAAATATCCATAATGTTACTGGTCTCCACTATTTGTGGTTTTTTGTTTTAATTTTAGCAAAACTAATGTTTCTCAGGAAATGTTTGGACAAAAA... | TCTGTTTATTAAATAAATACCTATAAGAAGCAACTACGTTTGTGCCAAGCATATGTCGAGTACTAATTTACATAACCAAGTAAAACCTGGGCCTGGCCTTCAGGTTGCTTATTTTCTAGTGGGGCTTATGGGTAAGAAAATAATGTGTATATAGTAACATTTATATTAAAAATCTCGTCTTAACTACCATTTCAAAATTCAGACCAGTATATTTTAACATTTTTTGTAAATATCCATAATGTTACTGGTCTCCACTATTTGTGGTTTTTTGTTTTAATTTTAGCAAAACTAATGTTTCTCAGGAAATGTTTGGACAAAAA... |
Task1_train_7814 | This genomic variant is located on Chromosome 3, within the PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; CLOVES syndrome | TTGTGCCAAGCATATGTCGAGTACTAATTTACATAACCAAGTAAAACCTGGGCCTGGCCTTCAGGTTGCTTATTTTCTAGTGGGGCTTATGGGTAAGAAAATAATGTGTATATAGTAACATTTATATTAAAAATCTCGTCTTAACTACCATTTCAAAATTCAGACCAGTATATTTTAACATTTTTTGTAAATATCCATAATGTTACTGGTCTCCACTATTTGTGGTTTTTTGTTTTAATTTTAGCAAAACTAATGTTTCTCAGGAAATGTTTGGACAAAAAAGCAAGTGAACAGCAGCCTTTGGATGGGACATCAGTATG... | TTGTGCCAAGCATATGTCGAGTACTAATTTACATAACCAAGTAAAACCTGGGCCTGGCCTTCAGGTTGCTTATTTTCTAGTGGGGCTTATGGGTAAGAAAATAATGTGTATATAGTAACATTTATATTAAAAATCTCGTCTTAACTACCATTTCAAAATTCAGACCAGTATATTTTAACATTTTTTGTAAATATCCATAATGTTACTGGTCTCCACTATTTGTGGTTTTTTGTTTTAATTTTAGCAAAACTAATGTTTCTCAGGAAATGTTTGGACAAAAAAGCAAGTGAACAGCAGCCTTTGGATGGGACATCAGTATG... |
Task1_train_7815 | This genomic variant is located on Chromosome 3, within the PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Megalencephaly-capillary malformation-polymicrogyria syndrome | TTGTGCCAAGCATATGTCGAGTACTAATTTACATAACCAAGTAAAACCTGGGCCTGGCCTTCAGGTTGCTTATTTTCTAGTGGGGCTTATGGGTAAGAAAATAATGTGTATATAGTAACATTTATATTAAAAATCTCGTCTTAACTACCATTTCAAAATTCAGACCAGTATATTTTAACATTTTTTGTAAATATCCATAATGTTACTGGTCTCCACTATTTGTGGTTTTTTGTTTTAATTTTAGCAAAACTAATGTTTCTCAGGAAATGTTTGGACAAAAAAGCAAGTGAACAGCAGCCTTTGGATGGGACATCAGTATG... | TTGTGCCAAGCATATGTCGAGTACTAATTTACATAACCAAGTAAAACCTGGGCCTGGCCTTCAGGTTGCTTATTTTCTAGTGGGGCTTATGGGTAAGAAAATAATGTGTATATAGTAACATTTATATTAAAAATCTCGTCTTAACTACCATTTCAAAATTCAGACCAGTATATTTTAACATTTTTTGTAAATATCCATAATGTTACTGGTCTCCACTATTTGTGGTTTTTTGTTTTAATTTTAGCAAAACTAATGTTTCTCAGGAAATGTTTGGACAAAAAAGCAAGTGAACAGCAGCCTTTGGATGGGACATCAGTATG... |
Task1_train_7816 | This sequence variant lies in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3. Is it clinically significant, and what condition might it cause if any? | Pathogenic; PIK3CA related overgrowth syndrome | TGTGCCAAGCATATGTCGAGTACTAATTTACATAACCAAGTAAAACCTGGGCCTGGCCTTCAGGTTGCTTATTTTCTAGTGGGGCTTATGGGTAAGAAAATAATGTGTATATAGTAACATTTATATTAAAAATCTCGTCTTAACTACCATTTCAAAATTCAGACCAGTATATTTTAACATTTTTTGTAAATATCCATAATGTTACTGGTCTCCACTATTTGTGGTTTTTTGTTTTAATTTTAGCAAAACTAATGTTTCTCAGGAAATGTTTGGACAAAAAAGCAAGTGAACAGCAGCCTTTGGATGGGACATCAGTATGA... | TGTGCCAAGCATATGTCGAGTACTAATTTACATAACCAAGTAAAACCTGGGCCTGGCCTTCAGGTTGCTTATTTTCTAGTGGGGCTTATGGGTAAGAAAATAATGTGTATATAGTAACATTTATATTAAAAATCTCGTCTTAACTACCATTTCAAAATTCAGACCAGTATATTTTAACATTTTTTGTAAATATCCATAATGTTACTGGTCTCCACTATTTGTGGTTTTTTGTTTTAATTTTAGCAAAACTAATGTTTCTCAGGAAATGTTTGGACAAAAAAGCAAGTGAACAGCAGCCTTTGGATGGGACATCAGTATGA... |
Task1_train_7817 | This mutation is located in gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; PIK3CA-related disorder | TGTGCCAAGCATATGTCGAGTACTAATTTACATAACCAAGTAAAACCTGGGCCTGGCCTTCAGGTTGCTTATTTTCTAGTGGGGCTTATGGGTAAGAAAATAATGTGTATATAGTAACATTTATATTAAAAATCTCGTCTTAACTACCATTTCAAAATTCAGACCAGTATATTTTAACATTTTTTGTAAATATCCATAATGTTACTGGTCTCCACTATTTGTGGTTTTTTGTTTTAATTTTAGCAAAACTAATGTTTCTCAGGAAATGTTTGGACAAAAAAGCAAGTGAACAGCAGCCTTTGGATGGGACATCAGTATGA... | TGTGCCAAGCATATGTCGAGTACTAATTTACATAACCAAGTAAAACCTGGGCCTGGCCTTCAGGTTGCTTATTTTCTAGTGGGGCTTATGGGTAAGAAAATAATGTGTATATAGTAACATTTATATTAAAAATCTCGTCTTAACTACCATTTCAAAATTCAGACCAGTATATTTTAACATTTTTTGTAAATATCCATAATGTTACTGGTCTCCACTATTTGTGGTTTTTTGTTTTAATTTTAGCAAAACTAATGTTTCTCAGGAAATGTTTGGACAAAAAAGCAAGTGAACAGCAGCCTTTGGATGGGACATCAGTATGA... |
Task1_train_7818 | A genetic alteration is present in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Cowden syndrome | TGTGCCAAGCATATGTCGAGTACTAATTTACATAACCAAGTAAAACCTGGGCCTGGCCTTCAGGTTGCTTATTTTCTAGTGGGGCTTATGGGTAAGAAAATAATGTGTATATAGTAACATTTATATTAAAAATCTCGTCTTAACTACCATTTCAAAATTCAGACCAGTATATTTTAACATTTTTTGTAAATATCCATAATGTTACTGGTCTCCACTATTTGTGGTTTTTTGTTTTAATTTTAGCAAAACTAATGTTTCTCAGGAAATGTTTGGACAAAAAAGCAAGTGAACAGCAGCCTTTGGATGGGACATCAGTATGA... | TGTGCCAAGCATATGTCGAGTACTAATTTACATAACCAAGTAAAACCTGGGCCTGGCCTTCAGGTTGCTTATTTTCTAGTGGGGCTTATGGGTAAGAAAATAATGTGTATATAGTAACATTTATATTAAAAATCTCGTCTTAACTACCATTTCAAAATTCAGACCAGTATATTTTAACATTTTTTGTAAATATCCATAATGTTACTGGTCTCCACTATTTGTGGTTTTTTGTTTTAATTTTAGCAAAACTAATGTTTCTCAGGAAATGTTTGGACAAAAAAGCAAGTGAACAGCAGCCTTTGGATGGGACATCAGTATGA... |
Task1_train_7819 | A mutation found in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Epidermal nevus | TGTGCCAAGCATATGTCGAGTACTAATTTACATAACCAAGTAAAACCTGGGCCTGGCCTTCAGGTTGCTTATTTTCTAGTGGGGCTTATGGGTAAGAAAATAATGTGTATATAGTAACATTTATATTAAAAATCTCGTCTTAACTACCATTTCAAAATTCAGACCAGTATATTTTAACATTTTTTGTAAATATCCATAATGTTACTGGTCTCCACTATTTGTGGTTTTTTGTTTTAATTTTAGCAAAACTAATGTTTCTCAGGAAATGTTTGGACAAAAAAGCAAGTGAACAGCAGCCTTTGGATGGGACATCAGTATGA... | TGTGCCAAGCATATGTCGAGTACTAATTTACATAACCAAGTAAAACCTGGGCCTGGCCTTCAGGTTGCTTATTTTCTAGTGGGGCTTATGGGTAAGAAAATAATGTGTATATAGTAACATTTATATTAAAAATCTCGTCTTAACTACCATTTCAAAATTCAGACCAGTATATTTTAACATTTTTTGTAAATATCCATAATGTTACTGGTCTCCACTATTTGTGGTTTTTTGTTTTAATTTTAGCAAAACTAATGTTTCTCAGGAAATGTTTGGACAAAAAAGCAAGTGAACAGCAGCCTTTGGATGGGACATCAGTATGA... |
Task1_train_7820 | With a mutation on Chromosome 3 in gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Megalencephaly-capillary malformation-polymicrogyria syndrome | TGTGCCAAGCATATGTCGAGTACTAATTTACATAACCAAGTAAAACCTGGGCCTGGCCTTCAGGTTGCTTATTTTCTAGTGGGGCTTATGGGTAAGAAAATAATGTGTATATAGTAACATTTATATTAAAAATCTCGTCTTAACTACCATTTCAAAATTCAGACCAGTATATTTTAACATTTTTTGTAAATATCCATAATGTTACTGGTCTCCACTATTTGTGGTTTTTTGTTTTAATTTTAGCAAAACTAATGTTTCTCAGGAAATGTTTGGACAAAAAAGCAAGTGAACAGCAGCCTTTGGATGGGACATCAGTATGA... | TGTGCCAAGCATATGTCGAGTACTAATTTACATAACCAAGTAAAACCTGGGCCTGGCCTTCAGGTTGCTTATTTTCTAGTGGGGCTTATGGGTAAGAAAATAATGTGTATATAGTAACATTTATATTAAAAATCTCGTCTTAACTACCATTTCAAAATTCAGACCAGTATATTTTAACATTTTTTGTAAATATCCATAATGTTACTGGTCTCCACTATTTGTGGTTTTTTGTTTTAATTTTAGCAAAACTAATGTTTCTCAGGAAATGTTTGGACAAAAAAGCAAGTGAACAGCAGCCTTTGGATGGGACATCAGTATGA... |
Task1_train_7821 | This sequence variant lies in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Cowden syndrome | TTTCTATAAATAGACCATATTTTTAAAAATCTTTATCCATACTTGAGCAAAAATGCTAGAATAAATGGAACTTATTTTACTGATGAAGTTTATTACTTAGTTGGCTAATTAAAAATAGAATTGTTATACTATTTTATTGTTGATTAAGAATTATTTTATTTATAATCAAGATTAGACCAGAATGATAAGACATTTGAAAAGTTTTTAAAATTACTATCTAACATATGAGCTTCTATCATGGGACAATTGCTATTCTAATTCCTTTGCTTGTGTTATCTCATTTAATTTTATGAGATAGTTATCAACCTTATGAGGGTAGG... | TTTCTATAAATAGACCATATTTTTAAAAATCTTTATCCATACTTGAGCAAAAATGCTAGAATAAATGGAACTTATTTTACTGATGAAGTTTATTACTTAGTTGGCTAATTAAAAATAGAATTGTTATACTATTTTATTGTTGATTAAGAATTATTTTATTTATAATCAAGATTAGACCAGAATGATAAGACATTTGAAAAGTTTTTAAAATTACTATCTAACATATGAGCTTCTATCATGGGACAATTGCTATTCTAATTCCTTTGCTTGTGTTATCTCATTTAATTTTATGAGATAGTTATCAACCTTATGAGGGTAGG... |
Task1_train_7822 | This alteration in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Ovarian neoplasm | TTTCTATAAATAGACCATATTTTTAAAAATCTTTATCCATACTTGAGCAAAAATGCTAGAATAAATGGAACTTATTTTACTGATGAAGTTTATTACTTAGTTGGCTAATTAAAAATAGAATTGTTATACTATTTTATTGTTGATTAAGAATTATTTTATTTATAATCAAGATTAGACCAGAATGATAAGACATTTGAAAAGTTTTTAAAATTACTATCTAACATATGAGCTTCTATCATGGGACAATTGCTATTCTAATTCCTTTGCTTGTGTTATCTCATTTAATTTTATGAGATAGTTATCAACCTTATGAGGGTAGG... | TTTCTATAAATAGACCATATTTTTAAAAATCTTTATCCATACTTGAGCAAAAATGCTAGAATAAATGGAACTTATTTTACTGATGAAGTTTATTACTTAGTTGGCTAATTAAAAATAGAATTGTTATACTATTTTATTGTTGATTAAGAATTATTTTATTTATAATCAAGATTAGACCAGAATGATAAGACATTTGAAAAGTTTTTAAAATTACTATCTAACATATGAGCTTCTATCATGGGACAATTGCTATTCTAATTCCTTTGCTTGTGTTATCTCATTTAATTTTATGAGATAGTTATCAACCTTATGAGGGTAGG... |
Task1_train_7823 | A genetic alteration is present in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Segmental undergrowth associated with lymphatic malformation | TTTCTATAAATAGACCATATTTTTAAAAATCTTTATCCATACTTGAGCAAAAATGCTAGAATAAATGGAACTTATTTTACTGATGAAGTTTATTACTTAGTTGGCTAATTAAAAATAGAATTGTTATACTATTTTATTGTTGATTAAGAATTATTTTATTTATAATCAAGATTAGACCAGAATGATAAGACATTTGAAAAGTTTTTAAAATTACTATCTAACATATGAGCTTCTATCATGGGACAATTGCTATTCTAATTCCTTTGCTTGTGTTATCTCATTTAATTTTATGAGATAGTTATCAACCTTATGAGGGTAGG... | TTTCTATAAATAGACCATATTTTTAAAAATCTTTATCCATACTTGAGCAAAAATGCTAGAATAAATGGAACTTATTTTACTGATGAAGTTTATTACTTAGTTGGCTAATTAAAAATAGAATTGTTATACTATTTTATTGTTGATTAAGAATTATTTTATTTATAATCAAGATTAGACCAGAATGATAAGACATTTGAAAAGTTTTTAAAATTACTATCTAACATATGAGCTTCTATCATGGGACAATTGCTATTCTAATTCCTTTGCTTGTGTTATCTCATTTAATTTTATGAGATAGTTATCAACCTTATGAGGGTAGG... |
Task1_train_7824 | Given this context: Chromosome 3, gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Capillary malformation | TTTCTATAAATAGACCATATTTTTAAAAATCTTTATCCATACTTGAGCAAAAATGCTAGAATAAATGGAACTTATTTTACTGATGAAGTTTATTACTTAGTTGGCTAATTAAAAATAGAATTGTTATACTATTTTATTGTTGATTAAGAATTATTTTATTTATAATCAAGATTAGACCAGAATGATAAGACATTTGAAAAGTTTTTAAAATTACTATCTAACATATGAGCTTCTATCATGGGACAATTGCTATTCTAATTCCTTTGCTTGTGTTATCTCATTTAATTTTATGAGATAGTTATCAACCTTATGAGGGTAGG... | TTTCTATAAATAGACCATATTTTTAAAAATCTTTATCCATACTTGAGCAAAAATGCTAGAATAAATGGAACTTATTTTACTGATGAAGTTTATTACTTAGTTGGCTAATTAAAAATAGAATTGTTATACTATTTTATTGTTGATTAAGAATTATTTTATTTATAATCAAGATTAGACCAGAATGATAAGACATTTGAAAAGTTTTTAAAATTACTATCTAACATATGAGCTTCTATCATGGGACAATTGCTATTCTAATTCCTTTGCTTGTGTTATCTCATTTAATTTTATGAGATAGTTATCAACCTTATGAGGGTAGG... |
Task1_train_7825 | Consider a variant on Chromosome 3 in gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha). Determine its clinical classification and disease relevance. | Pathogenic; CLOVES syndrome | TTTCTATAAATAGACCATATTTTTAAAAATCTTTATCCATACTTGAGCAAAAATGCTAGAATAAATGGAACTTATTTTACTGATGAAGTTTATTACTTAGTTGGCTAATTAAAAATAGAATTGTTATACTATTTTATTGTTGATTAAGAATTATTTTATTTATAATCAAGATTAGACCAGAATGATAAGACATTTGAAAAGTTTTTAAAATTACTATCTAACATATGAGCTTCTATCATGGGACAATTGCTATTCTAATTCCTTTGCTTGTGTTATCTCATTTAATTTTATGAGATAGTTATCAACCTTATGAGGGTAGG... | TTTCTATAAATAGACCATATTTTTAAAAATCTTTATCCATACTTGAGCAAAAATGCTAGAATAAATGGAACTTATTTTACTGATGAAGTTTATTACTTAGTTGGCTAATTAAAAATAGAATTGTTATACTATTTTATTGTTGATTAAGAATTATTTTATTTATAATCAAGATTAGACCAGAATGATAAGACATTTGAAAAGTTTTTAAAATTACTATCTAACATATGAGCTTCTATCATGGGACAATTGCTATTCTAATTCCTTTGCTTGTGTTATCTCATTTAATTTTATGAGATAGTTATCAACCTTATGAGGGTAGG... |
Task1_train_7826 | This gene mutation involves PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3. Is it associated with any clinical condition, or is it benign? | Pathogenic; CLAPO syndrome | TTTCTATAAATAGACCATATTTTTAAAAATCTTTATCCATACTTGAGCAAAAATGCTAGAATAAATGGAACTTATTTTACTGATGAAGTTTATTACTTAGTTGGCTAATTAAAAATAGAATTGTTATACTATTTTATTGTTGATTAAGAATTATTTTATTTATAATCAAGATTAGACCAGAATGATAAGACATTTGAAAAGTTTTTAAAATTACTATCTAACATATGAGCTTCTATCATGGGACAATTGCTATTCTAATTCCTTTGCTTGTGTTATCTCATTTAATTTTATGAGATAGTTATCAACCTTATGAGGGTAGG... | TTTCTATAAATAGACCATATTTTTAAAAATCTTTATCCATACTTGAGCAAAAATGCTAGAATAAATGGAACTTATTTTACTGATGAAGTTTATTACTTAGTTGGCTAATTAAAAATAGAATTGTTATACTATTTTATTGTTGATTAAGAATTATTTTATTTATAATCAAGATTAGACCAGAATGATAAGACATTTGAAAAGTTTTTAAAATTACTATCTAACATATGAGCTTCTATCATGGGACAATTGCTATTCTAATTCCTTTGCTTGTGTTATCTCATTTAATTTTATGAGATAGTTATCAACCTTATGAGGGTAGG... |
Task1_train_7827 | An alteration has been detected in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Neoplasm | TTTCTATAAATAGACCATATTTTTAAAAATCTTTATCCATACTTGAGCAAAAATGCTAGAATAAATGGAACTTATTTTACTGATGAAGTTTATTACTTAGTTGGCTAATTAAAAATAGAATTGTTATACTATTTTATTGTTGATTAAGAATTATTTTATTTATAATCAAGATTAGACCAGAATGATAAGACATTTGAAAAGTTTTTAAAATTACTATCTAACATATGAGCTTCTATCATGGGACAATTGCTATTCTAATTCCTTTGCTTGTGTTATCTCATTTAATTTTATGAGATAGTTATCAACCTTATGAGGGTAGG... | TTTCTATAAATAGACCATATTTTTAAAAATCTTTATCCATACTTGAGCAAAAATGCTAGAATAAATGGAACTTATTTTACTGATGAAGTTTATTACTTAGTTGGCTAATTAAAAATAGAATTGTTATACTATTTTATTGTTGATTAAGAATTATTTTATTTATAATCAAGATTAGACCAGAATGATAAGACATTTGAAAAGTTTTTAAAATTACTATCTAACATATGAGCTTCTATCATGGGACAATTGCTATTCTAATTCCTTTGCTTGTGTTATCTCATTTAATTTTATGAGATAGTTATCAACCTTATGAGGGTAGG... |
Task1_train_7828 | A genetic alteration is present in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Megalencephaly-capillary malformation-polymicrogyria syndrome | TTTATTACTTAGTTGGCTAATTAAAAATAGAATTGTTATACTATTTTATTGTTGATTAAGAATTATTTTATTTATAATCAAGATTAGACCAGAATGATAAGACATTTGAAAAGTTTTTAAAATTACTATCTAACATATGAGCTTCTATCATGGGACAATTGCTATTCTAATTCCTTTGCTTGTGTTATCTCATTTAATTTTATGAGATAGTTATCAACCTTATGAGGGTAGGTACTATTATTAGTCCCATTTCATAGAGGAGGCAAAAGACAAAGCAAGGGTCACACACTTAGTGAAAAAGGGGAAATAAGATTCTACTC... | TTTATTACTTAGTTGGCTAATTAAAAATAGAATTGTTATACTATTTTATTGTTGATTAAGAATTATTTTATTTATAATCAAGATTAGACCAGAATGATAAGACATTTGAAAAGTTTTTAAAATTACTATCTAACATATGAGCTTCTATCATGGGACAATTGCTATTCTAATTCCTTTGCTTGTGTTATCTCATTTAATTTTATGAGATAGTTATCAACCTTATGAGGGTAGGTACTATTATTAGTCCCATTTCATAGAGGAGGCAAAAGACAAAGCAAGGGTCACACACTTAGTGAAAAAGGGGAAATAAGATTCTACTC... |
Task1_train_7829 | Given this variant in gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; PIK3CA related overgrowth syndrome | TTTATTACTTAGTTGGCTAATTAAAAATAGAATTGTTATACTATTTTATTGTTGATTAAGAATTATTTTATTTATAATCAAGATTAGACCAGAATGATAAGACATTTGAAAAGTTTTTAAAATTACTATCTAACATATGAGCTTCTATCATGGGACAATTGCTATTCTAATTCCTTTGCTTGTGTTATCTCATTTAATTTTATGAGATAGTTATCAACCTTATGAGGGTAGGTACTATTATTAGTCCCATTTCATAGAGGAGGCAAAAGACAAAGCAAGGGTCACACACTTAGTGAAAAAGGGGAAATAAGATTCTACTC... | TTTATTACTTAGTTGGCTAATTAAAAATAGAATTGTTATACTATTTTATTGTTGATTAAGAATTATTTTATTTATAATCAAGATTAGACCAGAATGATAAGACATTTGAAAAGTTTTTAAAATTACTATCTAACATATGAGCTTCTATCATGGGACAATTGCTATTCTAATTCCTTTGCTTGTGTTATCTCATTTAATTTTATGAGATAGTTATCAACCTTATGAGGGTAGGTACTATTATTAGTCCCATTTCATAGAGGAGGCAAAAGACAAAGCAAGGGTCACACACTTAGTGAAAAAGGGGAAATAAGATTCTACTC... |
Task1_train_7830 | Given a variant located on Chromosome 3 and affecting PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Cowden syndrome | GTTGGCTAATTAAAAATAGAATTGTTATACTATTTTATTGTTGATTAAGAATTATTTTATTTATAATCAAGATTAGACCAGAATGATAAGACATTTGAAAAGTTTTTAAAATTACTATCTAACATATGAGCTTCTATCATGGGACAATTGCTATTCTAATTCCTTTGCTTGTGTTATCTCATTTAATTTTATGAGATAGTTATCAACCTTATGAGGGTAGGTACTATTATTAGTCCCATTTCATAGAGGAGGCAAAAGACAAAGCAAGGGTCACACACTTAGTGAAAAAGGGGAAATAAGATTCTACTCCAGTCTGATTT... | GTTGGCTAATTAAAAATAGAATTGTTATACTATTTTATTGTTGATTAAGAATTATTTTATTTATAATCAAGATTAGACCAGAATGATAAGACATTTGAAAAGTTTTTAAAATTACTATCTAACATATGAGCTTCTATCATGGGACAATTGCTATTCTAATTCCTTTGCTTGTGTTATCTCATTTAATTTTATGAGATAGTTATCAACCTTATGAGGGTAGGTACTATTATTAGTCCCATTTCATAGAGGAGGCAAAAGACAAAGCAAGGGTCACACACTTAGTGAAAAAGGGGAAATAAGATTCTACTCCAGTCTGATTT... |
Task1_train_7831 | Here is a genetic alteration in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; PIK3CA related overgrowth syndrome | GTTGGCTAATTAAAAATAGAATTGTTATACTATTTTATTGTTGATTAAGAATTATTTTATTTATAATCAAGATTAGACCAGAATGATAAGACATTTGAAAAGTTTTTAAAATTACTATCTAACATATGAGCTTCTATCATGGGACAATTGCTATTCTAATTCCTTTGCTTGTGTTATCTCATTTAATTTTATGAGATAGTTATCAACCTTATGAGGGTAGGTACTATTATTAGTCCCATTTCATAGAGGAGGCAAAAGACAAAGCAAGGGTCACACACTTAGTGAAAAAGGGGAAATAAGATTCTACTCCAGTCTGATTT... | GTTGGCTAATTAAAAATAGAATTGTTATACTATTTTATTGTTGATTAAGAATTATTTTATTTATAATCAAGATTAGACCAGAATGATAAGACATTTGAAAAGTTTTTAAAATTACTATCTAACATATGAGCTTCTATCATGGGACAATTGCTATTCTAATTCCTTTGCTTGTGTTATCTCATTTAATTTTATGAGATAGTTATCAACCTTATGAGGGTAGGTACTATTATTAGTCCCATTTCATAGAGGAGGCAAAAGACAAAGCAAGGGTCACACACTTAGTGAAAAAGGGGAAATAAGATTCTACTCCAGTCTGATTT... |
Task1_train_7832 | Assess the clinical impact of this variant on gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; CLOVES syndrome | GTTGGCTAATTAAAAATAGAATTGTTATACTATTTTATTGTTGATTAAGAATTATTTTATTTATAATCAAGATTAGACCAGAATGATAAGACATTTGAAAAGTTTTTAAAATTACTATCTAACATATGAGCTTCTATCATGGGACAATTGCTATTCTAATTCCTTTGCTTGTGTTATCTCATTTAATTTTATGAGATAGTTATCAACCTTATGAGGGTAGGTACTATTATTAGTCCCATTTCATAGAGGAGGCAAAAGACAAAGCAAGGGTCACACACTTAGTGAAAAAGGGGAAATAAGATTCTACTCCAGTCTGATTT... | GTTGGCTAATTAAAAATAGAATTGTTATACTATTTTATTGTTGATTAAGAATTATTTTATTTATAATCAAGATTAGACCAGAATGATAAGACATTTGAAAAGTTTTTAAAATTACTATCTAACATATGAGCTTCTATCATGGGACAATTGCTATTCTAATTCCTTTGCTTGTGTTATCTCATTTAATTTTATGAGATAGTTATCAACCTTATGAGGGTAGGTACTATTATTAGTCCCATTTCATAGAGGAGGCAAAAGACAAAGCAAGGGTCACACACTTAGTGAAAAAGGGGAAATAAGATTCTACTCCAGTCTGATTT... |
Task1_train_7833 | A genomic change on Chromosome 3 affects PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Megalencephaly-capillary malformation-polymicrogyria syndrome | GTTGGCTAATTAAAAATAGAATTGTTATACTATTTTATTGTTGATTAAGAATTATTTTATTTATAATCAAGATTAGACCAGAATGATAAGACATTTGAAAAGTTTTTAAAATTACTATCTAACATATGAGCTTCTATCATGGGACAATTGCTATTCTAATTCCTTTGCTTGTGTTATCTCATTTAATTTTATGAGATAGTTATCAACCTTATGAGGGTAGGTACTATTATTAGTCCCATTTCATAGAGGAGGCAAAAGACAAAGCAAGGGTCACACACTTAGTGAAAAAGGGGAAATAAGATTCTACTCCAGTCTGATTT... | GTTGGCTAATTAAAAATAGAATTGTTATACTATTTTATTGTTGATTAAGAATTATTTTATTTATAATCAAGATTAGACCAGAATGATAAGACATTTGAAAAGTTTTTAAAATTACTATCTAACATATGAGCTTCTATCATGGGACAATTGCTATTCTAATTCCTTTGCTTGTGTTATCTCATTTAATTTTATGAGATAGTTATCAACCTTATGAGGGTAGGTACTATTATTAGTCCCATTTCATAGAGGAGGCAAAAGACAAAGCAAGGGTCACACACTTAGTGAAAAAGGGGAAATAAGATTCTACTCCAGTCTGATTT... |
Task1_train_7834 | The gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; PIK3CA-related disorder | GTTGGCTAATTAAAAATAGAATTGTTATACTATTTTATTGTTGATTAAGAATTATTTTATTTATAATCAAGATTAGACCAGAATGATAAGACATTTGAAAAGTTTTTAAAATTACTATCTAACATATGAGCTTCTATCATGGGACAATTGCTATTCTAATTCCTTTGCTTGTGTTATCTCATTTAATTTTATGAGATAGTTATCAACCTTATGAGGGTAGGTACTATTATTAGTCCCATTTCATAGAGGAGGCAAAAGACAAAGCAAGGGTCACACACTTAGTGAAAAAGGGGAAATAAGATTCTACTCCAGTCTGATTT... | GTTGGCTAATTAAAAATAGAATTGTTATACTATTTTATTGTTGATTAAGAATTATTTTATTTATAATCAAGATTAGACCAGAATGATAAGACATTTGAAAAGTTTTTAAAATTACTATCTAACATATGAGCTTCTATCATGGGACAATTGCTATTCTAATTCCTTTGCTTGTGTTATCTCATTTAATTTTATGAGATAGTTATCAACCTTATGAGGGTAGGTACTATTATTAGTCCCATTTCATAGAGGAGGCAAAAGACAAAGCAAGGGTCACACACTTAGTGAAAAAGGGGAAATAAGATTCTACTCCAGTCTGATTT... |
Task1_train_7835 | A genomic change on Chromosome 3 affects PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | GTATTTCTAAAGACAAAAAGGAAATTTGTATTCACATTCAGTTAGTCATTCCACCAGAATGACTTCATCACACAATATTTTGTGACAAGAACCTGAACAGCCTGTTTTACAGTATTCTTTTCATCTTTTATTATATGCACCAAAATTTTTTTTTAAATTTTCTTGAACCTCTAAATCTACGTTAAAAATTTACCTGATACACTTTCTAAATGGACAAATGCCGAAGGTAGCTGTGTATACAAATGTGACTAGAAGGAAAAAGATGATATAGAAATAAAATAACTCCTTGAGTTGATCATTCTGATTGGCATTTATAGAGT... | GTATTTCTAAAGACAAAAAGGAAATTTGTATTCACATTCAGTTAGTCATTCCACCAGAATGACTTCATCACACAATATTTTGTGACAAGAACCTGAACAGCCTGTTTTACAGTATTCTTTTCATCTTTTATTATATGCACCAAAATTTTTTTTTAAATTTTCTTGAACCTCTAAATCTACGTTAAAAATTTACCTGATACACTTTCTAAATGGACAAATGCCGAAGGTAGCTGTGTATACAAATGTGACTAGAAGGAAAAAGATGATATAGAAATAAAATAACTCCTTGAGTTGATCATTCTGATTGGCATTTATAGAGT... |
Task1_train_7836 | This sequence variant lies in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Neoplasm | GTATTTCTAAAGACAAAAAGGAAATTTGTATTCACATTCAGTTAGTCATTCCACCAGAATGACTTCATCACACAATATTTTGTGACAAGAACCTGAACAGCCTGTTTTACAGTATTCTTTTCATCTTTTATTATATGCACCAAAATTTTTTTTTAAATTTTCTTGAACCTCTAAATCTACGTTAAAAATTTACCTGATACACTTTCTAAATGGACAAATGCCGAAGGTAGCTGTGTATACAAATGTGACTAGAAGGAAAAAGATGATATAGAAATAAAATAACTCCTTGAGTTGATCATTCTGATTGGCATTTATAGAGT... | GTATTTCTAAAGACAAAAAGGAAATTTGTATTCACATTCAGTTAGTCATTCCACCAGAATGACTTCATCACACAATATTTTGTGACAAGAACCTGAACAGCCTGTTTTACAGTATTCTTTTCATCTTTTATTATATGCACCAAAATTTTTTTTTAAATTTTCTTGAACCTCTAAATCTACGTTAAAAATTTACCTGATACACTTTCTAAATGGACAAATGCCGAAGGTAGCTGTGTATACAAATGTGACTAGAAGGAAAAAGATGATATAGAAATAAAATAACTCCTTGAGTTGATCATTCTGATTGGCATTTATAGAGT... |
Task1_train_7837 | Here is a genetic alteration in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Ovarian neoplasm | AGACAAAAAGGAAATTTGTATTCACATTCAGTTAGTCATTCCACCAGAATGACTTCATCACACAATATTTTGTGACAAGAACCTGAACAGCCTGTTTTACAGTATTCTTTTCATCTTTTATTATATGCACCAAAATTTTTTTTTAAATTTTCTTGAACCTCTAAATCTACGTTAAAAATTTACCTGATACACTTTCTAAATGGACAAATGCCGAAGGTAGCTGTGTATACAAATGTGACTAGAAGGAAAAAGATGATATAGAAATAAAATAACTCCTTGAGTTGATCATTCTGATTGGCATTTATAGAGTAGAAATGTTT... | AGACAAAAAGGAAATTTGTATTCACATTCAGTTAGTCATTCCACCAGAATGACTTCATCACACAATATTTTGTGACAAGAACCTGAACAGCCTGTTTTACAGTATTCTTTTCATCTTTTATTATATGCACCAAAATTTTTTTTTAAATTTTCTTGAACCTCTAAATCTACGTTAAAAATTTACCTGATACACTTTCTAAATGGACAAATGCCGAAGGTAGCTGTGTATACAAATGTGACTAGAAGGAAAAAGATGATATAGAAATAAAATAACTCCTTGAGTTGATCATTCTGATTGGCATTTATAGAGTAGAAATGTTT... |
Task1_train_7838 | This mutation is located in gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; PIK3CA related overgrowth syndrome | CAAAAAGGAAATTTGTATTCACATTCAGTTAGTCATTCCACCAGAATGACTTCATCACACAATATTTTGTGACAAGAACCTGAACAGCCTGTTTTACAGTATTCTTTTCATCTTTTATTATATGCACCAAAATTTTTTTTTAAATTTTCTTGAACCTCTAAATCTACGTTAAAAATTTACCTGATACACTTTCTAAATGGACAAATGCCGAAGGTAGCTGTGTATACAAATGTGACTAGAAGGAAAAAGATGATATAGAAATAAAATAACTCCTTGAGTTGATCATTCTGATTGGCATTTATAGAGTAGAAATGTTTTGT... | CAAAAAGGAAATTTGTATTCACATTCAGTTAGTCATTCCACCAGAATGACTTCATCACACAATATTTTGTGACAAGAACCTGAACAGCCTGTTTTACAGTATTCTTTTCATCTTTTATTATATGCACCAAAATTTTTTTTTAAATTTTCTTGAACCTCTAAATCTACGTTAAAAATTTACCTGATACACTTTCTAAATGGACAAATGCCGAAGGTAGCTGTGTATACAAATGTGACTAGAAGGAAAAAGATGATATAGAAATAAAATAACTCCTTGAGTTGATCATTCTGATTGGCATTTATAGAGTAGAAATGTTTTGT... |
Task1_train_7839 | The gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Ovarian neoplasm | CAAAAAGGAAATTTGTATTCACATTCAGTTAGTCATTCCACCAGAATGACTTCATCACACAATATTTTGTGACAAGAACCTGAACAGCCTGTTTTACAGTATTCTTTTCATCTTTTATTATATGCACCAAAATTTTTTTTTAAATTTTCTTGAACCTCTAAATCTACGTTAAAAATTTACCTGATACACTTTCTAAATGGACAAATGCCGAAGGTAGCTGTGTATACAAATGTGACTAGAAGGAAAAAGATGATATAGAAATAAAATAACTCCTTGAGTTGATCATTCTGATTGGCATTTATAGAGTAGAAATGTTTTGT... | CAAAAAGGAAATTTGTATTCACATTCAGTTAGTCATTCCACCAGAATGACTTCATCACACAATATTTTGTGACAAGAACCTGAACAGCCTGTTTTACAGTATTCTTTTCATCTTTTATTATATGCACCAAAATTTTTTTTTAAATTTTCTTGAACCTCTAAATCTACGTTAAAAATTTACCTGATACACTTTCTAAATGGACAAATGCCGAAGGTAGCTGTGTATACAAATGTGACTAGAAGGAAAAAGATGATATAGAAATAAAATAACTCCTTGAGTTGATCATTCTGATTGGCATTTATAGAGTAGAAATGTTTTGT... |
Task1_train_7840 | A mutation found in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Neoplasm | CAAAAAGGAAATTTGTATTCACATTCAGTTAGTCATTCCACCAGAATGACTTCATCACACAATATTTTGTGACAAGAACCTGAACAGCCTGTTTTACAGTATTCTTTTCATCTTTTATTATATGCACCAAAATTTTTTTTTAAATTTTCTTGAACCTCTAAATCTACGTTAAAAATTTACCTGATACACTTTCTAAATGGACAAATGCCGAAGGTAGCTGTGTATACAAATGTGACTAGAAGGAAAAAGATGATATAGAAATAAAATAACTCCTTGAGTTGATCATTCTGATTGGCATTTATAGAGTAGAAATGTTTTGT... | CAAAAAGGAAATTTGTATTCACATTCAGTTAGTCATTCCACCAGAATGACTTCATCACACAATATTTTGTGACAAGAACCTGAACAGCCTGTTTTACAGTATTCTTTTCATCTTTTATTATATGCACCAAAATTTTTTTTTAAATTTTCTTGAACCTCTAAATCTACGTTAAAAATTTACCTGATACACTTTCTAAATGGACAAATGCCGAAGGTAGCTGTGTATACAAATGTGACTAGAAGGAAAAAGATGATATAGAAATAAAATAACTCCTTGAGTTGATCATTCTGATTGGCATTTATAGAGTAGAAATGTTTTGT... |
Task1_train_7841 | This alteration occurs within gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) located on Chromosome 3. Is it associated with a disease or is it a benign variant? | Pathogenic; Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | TGGGACTTCTTAAGAAGATTCATATGGAGAAGTTAGACATGTCAACCTTTTGAACAGCATGCAAGAATGTTTATGTTTATTTTGTTTCTCCCACACAGACACTATTGTGTAACTATCCCCGAAATTCTACCCAAATTGCTTCTGTCTGTTAAATGGAATTCTAGAGATGAAGTAGCCCAGGTAAATGTATGTTTGAGATTACTAGATAACTGTTGTACAAATTGGTATGTCACTTAAATTGTTTTCTCTCAGAAAGTCCACATAAATAAATGAAATAGACTAATAGTAATATAGTGTAGAAAAAAACACCCTTAACATTA... | TGGGACTTCTTAAGAAGATTCATATGGAGAAGTTAGACATGTCAACCTTTTGAACAGCATGCAAGAATGTTTATGTTTATTTTGTTTCTCCCACACAGACACTATTGTGTAACTATCCCCGAAATTCTACCCAAATTGCTTCTGTCTGTTAAATGGAATTCTAGAGATGAAGTAGCCCAGGTAAATGTATGTTTGAGATTACTAGATAACTGTTGTACAAATTGGTATGTCACTTAAATTGTTTTCTCTCAGAAAGTCCACATAAATAAATGAAATAGACTAATAGTAATATAGTGTAGAAAAAAACACCCTTAACATTA... |
Task1_train_7842 | This genomic variant is located on Chromosome 3, within the PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; PIK3CA related overgrowth syndrome | GCTATGGTTATTCAGACATGGATATTTGGCAGACATTTTCTTGAAAATGAACAATATGTGCCTGTCTCTTTGAAGAAAACAACTGTGACAGTATTTGTTGCCAATGATAAAATTCAAACTTGCAACAAAAATTTCATTAGAAATTCAAAATTAGAATTTTGAAAATTCTAATTTTCATTATCTGCCGCTGAACCTAATAGAGTCCCTAAACTTAACATCTTTCTGATGAGATTCTTGGTAATATTAACAATTGTGGTTTTTTAGTATGGTATAATGAAAAGTATCAACATTTGGAACATCTACAAATGACCATGCAGGAT... | GCTATGGTTATTCAGACATGGATATTTGGCAGACATTTTCTTGAAAATGAACAATATGTGCCTGTCTCTTTGAAGAAAACAACTGTGACAGTATTTGTTGCCAATGATAAAATTCAAACTTGCAACAAAAATTTCATTAGAAATTCAAAATTAGAATTTTGAAAATTCTAATTTTCATTATCTGCCGCTGAACCTAATAGAGTCCCTAAACTTAACATCTTTCTGATGAGATTCTTGGTAATATTAACAATTGTGGTTTTTTAGTATGGTATAATGAAAAGTATCAACATTTGGAACATCTACAAATGACCATGCAGGAT... |
Task1_train_7843 | The gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | AGACATGGATATTTGGCAGACATTTTCTTGAAAATGAACAATATGTGCCTGTCTCTTTGAAGAAAACAACTGTGACAGTATTTGTTGCCAATGATAAAATTCAAACTTGCAACAAAAATTTCATTAGAAATTCAAAATTAGAATTTTGAAAATTCTAATTTTCATTATCTGCCGCTGAACCTAATAGAGTCCCTAAACTTAACATCTTTCTGATGAGATTCTTGGTAATATTAACAATTGTGGTTTTTTAGTATGGTATAATGAAAAGTATCAACATTTGGAACATCTACAAATGACCATGCAGGATACTATAAAATCAT... | AGACATGGATATTTGGCAGACATTTTCTTGAAAATGAACAATATGTGCCTGTCTCTTTGAAGAAAACAACTGTGACAGTATTTGTTGCCAATGATAAAATTCAAACTTGCAACAAAAATTTCATTAGAAATTCAAAATTAGAATTTTGAAAATTCTAATTTTCATTATCTGCCGCTGAACCTAATAGAGTCCCTAAACTTAACATCTTTCTGATGAGATTCTTGGTAATATTAACAATTGTGGTTTTTTAGTATGGTATAATGAAAAGTATCAACATTTGGAACATCTACAAATGACCATGCAGGATACTATAAAATCAT... |
Task1_train_7844 | Here is a mutation in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Cowden syndrome | ATTTATTATTTGCCTAGGCCAGTGTTTAAAAGAGTTTTTCCTAAGTTATCTTCTAGAATTTTTATGGTTTCAGGTCTTAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTG... | ATTTATTATTTGCCTAGGCCAGTGTTTAAAAGAGTTTTTCCTAAGTTATCTTCTAGAATTTTTATGGTTTCAGGTCTTAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTG... |
Task1_train_7845 | This variant impacts the gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3. Is the change likely to result in a pathogenic outcome? | Pathogenic; PIK3CA related overgrowth syndrome | AAGTTATCTTCTAGAATTTTTATGGTTTCAGGTCTTAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTA... | AAGTTATCTTCTAGAATTTTTATGGTTTCAGGTCTTAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTA... |
Task1_train_7846 | Gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; PIK3CA related overgrowth syndrome | TTTCAGGTCTTAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTT... | TTTCAGGTCTTAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTT... |
Task1_train_7847 | A mutation found in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Cowden syndrome | TTTCAGGTCTTAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTT... | TTTCAGGTCTTAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTT... |
Task1_train_7848 | This is a variant in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha), located on Chromosome 3. Is this mutation a likely cause of disease or not? | Pathogenic; Cowden syndrome | TCAGGTCTTAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTT... | TCAGGTCTTAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTT... |
Task1_train_7849 | A variant has been detected on Chromosome 3 in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Cowden syndrome | TAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGT... | TAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGT... |
Task1_train_7850 | This mutation occurs in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3. Does this change lead to a known medical condition, or is it benign? | Pathogenic; PIK3CA related overgrowth syndrome | TAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGT... | TAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGT... |
Task1_train_7851 | Here is a variant affecting PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Segmental undergrowth associated with mainly venous malformation with capillary component | TAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGT... | TAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGT... |
Task1_train_7852 | Assess the clinical impact of this variant on gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Inborn genetic diseases | TAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGT... | TAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGT... |
Task1_train_7853 | Given a variant located on Chromosome 3 and affecting PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Megalencephaly-capillary malformation-polymicrogyria syndrome | TAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGT... | TAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGT... |
Task1_train_7854 | This genomic variant is located on Chromosome 3, within the PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Non-small cell lung carcinoma | TAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGT... | TAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGT... |
Task1_train_7855 | This variant impacts the gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3. Is the change likely to result in a pathogenic outcome? | Pathogenic; CLOVES syndrome | TAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGT... | TAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGT... |
Task1_train_7856 | Consider a variant on Chromosome 3 in gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha). Determine its clinical classification and disease relevance. | Pathogenic; PIK3CA overgrowth syndrome | TAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGT... | TAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGT... |
Task1_train_7857 | A variant was discovered in gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Congenital macrodactylia | TAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGT... | TAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGT... |
Task1_train_7858 | This variant affects gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) located on Chromosome 3. Evaluate its biological effect and specify any disease association. | Pathogenic; Hepatocellular carcinoma | TAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGT... | TAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGT... |
Task1_train_7859 | This variant affects gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) located on Chromosome 3. Evaluate its biological effect and specify any disease association. | Pathogenic; Familial cancer of breast | TAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGT... | TAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGT... |
Task1_train_7860 | Here is a variant affecting PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Seborrheic keratosis | TAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGT... | TAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGT... |
Task1_train_7861 | This mutation occurs in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Neoplasm of stomach | TAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGT... | TAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGT... |
Task1_train_7862 | An alteration has been detected in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Megalencephaly-capillary malformation-polymicrogyria syndrome | TAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGT... | TAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGT... |
Task1_train_7863 | Chromosome 3 houses a mutation in gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Lung carcinoma | TAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGT... | TAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGT... |
Task1_train_7864 | The following genetic variant occurs in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Epidermal nevus | TAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGT... | TAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGT... |
Task1_train_7865 | The gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Ovarian neoplasm | TAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGT... | TAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGT... |
Task1_train_7866 | This genomic variant is located on Chromosome 3, within the PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Carcinoma of colon | TAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGT... | TAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGT... |
Task1_train_7867 | A mutation found in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Cowden syndrome 5 | TAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGT... | TAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGT... |
Task1_train_7868 | A variant was discovered on Chromosome 3, affecting PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; CLAPO syndrome | TAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGT... | TAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGT... |
Task1_train_7869 | Given this variant in gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; CLOVES syndrome | TAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGT... | TAGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGT... |
Task1_train_7870 | This gene mutation involves PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3. Is it associated with any clinical condition, or is it benign? | Pathogenic; Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | AGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGTC... | AGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGTC... |
Task1_train_7871 | A genomic change on Chromosome 3 affects PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Neoplasm | AGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGTC... | AGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGTC... |
Task1_train_7872 | This sequence change occurs on Chromosome 3, altering PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hemihypertrophy | AGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGTC... | AGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGTC... |
Task1_train_7873 | Gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Megalencephaly-capillary malformation-polymicrogyria syndrome | AGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGTC... | AGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGTC... |
Task1_train_7874 | This genomic variant is located on Chromosome 3, within the PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Inborn genetic diseases | AGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGTC... | AGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGTC... |
Task1_train_7875 | The variant affects gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Colorectal cancer | AGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGTC... | AGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGTC... |
Task1_train_7876 | A mutation on Chromosome 3 affecting PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Cowden syndrome 1 | AGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGTC... | AGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGTC... |
Task1_train_7877 | Here is a variant affecting PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Stroke disorder | AGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGTC... | AGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGTC... |
Task1_train_7878 | This alteration in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Macrodactyly of toe | AGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGTC... | AGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGTC... |
Task1_train_7879 | With a mutation on Chromosome 3 in gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Neoplasm | AGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGTC... | AGATTTAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGTC... |
Task1_train_7880 | This sequence change occurs on Chromosome 3, altering PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Megalencephaly-capillary malformation-polymicrogyria syndrome | TAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGTCTTGCT... | TAAGTCTTCGATCCATCTTGAGTTGATTTTTGTATAAGGTGAGAGACAGGGATCCAGTTTCATTCTTTTACATGTGGCTAGCTAGTTTTCCCACCACCATTTATTAAACAGAATGTCCTTTCTCCAATTTATGTTTTTATATGTCTAAGATCAGTTCGTTGTAAGTTTTTGGCTTTATTTCTAGGTTCTCCATTCTGTTCCATTGGTCTGTGTGTCTGCTTTTGTGTGTATCTGCTGTTTTGGTAATTATAGTTTCCTGGTATAATTTGAAGTCCAGTAATGTGATGCCTCCAGATTTGTTCTTTTTGCTTAGTCTTGCT... |
Task1_train_7881 | Here is a genetic alteration in GNB4 (G protein subunit beta 4) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Charcot-Marie-Tooth disease dominant intermediate F | CAATACTACACTATTGAACTATGATGGGCACACTGGCAAACAAAGCAATACACTATCATGGTGAAAAGCACTTCACTAATGTACCTTAATGCATACTTTCAATTATGTAATTGAGTACAGATGCCACAATCCCATAATTGTTATATGGCAGCAGAAAATGGAGAACATTTTATTTGCTTTATTTTTCATGAGTTTGAATTTTGTGCAGTAAATTTATCATTTTTTACAAAAACAATACAGCTATTTTTGAAAAATAAAATTATGATCAACGTTTGTATGACTATAAAAAGTTAATGTTTCCTTTGTTCATAATAATTTCA... | CAATACTACACTATTGAACTATGATGGGCACACTGGCAAACAAAGCAATACACTATCATGGTGAAAAGCACTTCACTAATGTACCTTAATGCATACTTTCAATTATGTAATTGAGTACAGATGCCACAATCCCATAATTGTTATATGGCAGCAGAAAATGGAGAACATTTTATTTGCTTTATTTTTCATGAGTTTGAATTTTGTGCAGTAAATTTATCATTTTTTACAAAAACAATACAGCTATTTTTGAAAAATAAAATTATGATCAACGTTTGTATGACTATAAAAAGTTAATGTTTCCTTTGTTCATAATAATTTCA... |
Task1_train_7882 | The gene CCDC39 (coiled-coil domain 39 molecular ruler complex subunit) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Primary ciliary dyskinesia 14 | AGTTTTCAAAGACGAAGTGGTGCACCAGCCTTTTCCAGTTCCTCAAAAATTGGCTTTAATGCCATCAACATGCCAAAAAAGACTGAGGTAGAAGAAGGTGCCAGTAGAATTAGCAAAGTTATAGCATTTCAAAGCCCATTTACCAAAAAATTTTGCCAGAGTATAAGGGGTTAAAGAGATAGTAGATGATAAAGAAGTACAAATCAGGAATGTAGATGATGATGGGAATTTGATTACAAAAAAACAGTGATAATCATGTAGAAATCAGTTGTAAAACAAAGCCACTTTTTGAACTATTTGTATGCAATATACAAATAGAT... | AGTTTTCAAAGACGAAGTGGTGCACCAGCCTTTTCCAGTTCCTCAAAAATTGGCTTTAATGCCATCAACATGCCAAAAAAGACTGAGGTAGAAGAAGGTGCCAGTAGAATTAGCAAAGTTATAGCATTTCAAAGCCCATTTACCAAAAAATTTTGCCAGAGTATAAGGGGTTAAAGAGATAGTAGATGATAAAGAAGTACAAATCAGGAATGTAGATGATGATGGGAATTTGATTACAAAAAAACAGTGATAATCATGTAGAAATCAGTTGTAAAACAAAGCCACTTTTTGAACTATTTGTATGCAATATACAAATAGAT... |
Task1_train_7883 | This variant impacts the gene LOC108281177, SOX2, SOX2-OT (SOX2 5' regulatory region| SRY-box transcription factor 2| SOX2 overlapping transcript) on Chromosome 3. Is the change likely to result in a pathogenic outcome? | Pathogenic; Anophthalmia/microphthalmia-esophageal atresia syndrome | ACTCCGTGTAGCGACAACAAGAGAAACAAAACTACCTATTTGTAACGGACGTGCTGCCATTGCCCTCCGCATTGAGCGCCTACCTATTGAAATCTTTACGTCGGGACAATGGGAGAGCGGCTAAAATTACCCTCTTGGGTCCTGGGCGGGCAAGATTCCTGAGCCCCTACCCCCGCCCCCATCTCATCCTCCTCTAACCCGGGCCTTGCTGGGCTCCCCCTTCCCCAGTCCCGGCCGCCTTCTCCCAGTGTGCGCTGCCTGCACCTGTGCCTGGAGAGCATCGACCCCGCCTCCCAGGCCTTGAGCCCCTTTGCGGCGCA... | ACTCCGTGTAGCGACAACAAGAGAAACAAAACTACCTATTTGTAACGGACGTGCTGCCATTGCCCTCCGCATTGAGCGCCTACCTATTGAAATCTTTACGTCGGGACAATGGGAGAGCGGCTAAAATTACCCTCTTGGGTCCTGGGCGGGCAAGATTCCTGAGCCCCTACCCCCGCCCCCATCTCATCCTCCTCTAACCCGGGCCTTGCTGGGCTCCCCCTTCCCCAGTCCCGGCCGCCTTCTCCCAGTGTGCGCTGCCTGCACCTGTGCCTGGAGAGCATCGACCCCGCCTCCCAGGCCTTGAGCCCCTTTGCGGCGCA... |
Task1_train_7884 | Here is a variant affecting LOC108281177, SOX2, SOX2-OT (SOX2 5' regulatory region| SRY-box transcription factor 2| SOX2 overlapping transcript) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Anophthalmia/microphthalmia-esophageal atresia syndrome | GTAGCGACAACAAGAGAAACAAAACTACCTATTTGTAACGGACGTGCTGCCATTGCCCTCCGCATTGAGCGCCTACCTATTGAAATCTTTACGTCGGGACAATGGGAGAGCGGCTAAAATTACCCTCTTGGGTCCTGGGCGGGCAAGATTCCTGAGCCCCTACCCCCGCCCCCATCTCATCCTCCTCTAACCCGGGCCTTGCTGGGCTCCCCCTTCCCCAGTCCCGGCCGCCTTCTCCCAGTGTGCGCTGCCTGCACCTGTGCCTGGAGAGCATCGACCCCGCCTCCCAGGCCTTGAGCCCCTTTGCGGCGCAGCCCCAG... | GTAGCGACAACAAGAGAAACAAAACTACCTATTTGTAACGGACGTGCTGCCATTGCCCTCCGCATTGAGCGCCTACCTATTGAAATCTTTACGTCGGGACAATGGGAGAGCGGCTAAAATTACCCTCTTGGGTCCTGGGCGGGCAAGATTCCTGAGCCCCTACCCCCGCCCCCATCTCATCCTCCTCTAACCCGGGCCTTGCTGGGCTCCCCCTTCCCCAGTCCCGGCCGCCTTCTCCCAGTGTGCGCTGCCTGCACCTGTGCCTGGAGAGCATCGACCCCGCCTCCCAGGCCTTGAGCCCCTTTGCGGCGCAGCCCCAG... |
Task1_train_7885 | This variant affects gene LOC108281177, SOX2, SOX2-OT (SOX2 5' regulatory region| SRY-box transcription factor 2| SOX2 overlapping transcript) located on Chromosome 3. Evaluate its biological effect and specify any disease association. | Pathogenic; Anophthalmia/microphthalmia-esophageal atresia syndrome | CTATTTGTAACGGACGTGCTGCCATTGCCCTCCGCATTGAGCGCCTACCTATTGAAATCTTTACGTCGGGACAATGGGAGAGCGGCTAAAATTACCCTCTTGGGTCCTGGGCGGGCAAGATTCCTGAGCCCCTACCCCCGCCCCCATCTCATCCTCCTCTAACCCGGGCCTTGCTGGGCTCCCCCTTCCCCAGTCCCGGCCGCCTTCTCCCAGTGTGCGCTGCCTGCACCTGTGCCTGGAGAGCATCGACCCCGCCTCCCAGGCCTTGAGCCCCTTTGCGGCGCAGCCCCAGCCTTGCGCGGCCTGGGCTTTGCGGCCAC... | CTATTTGTAACGGACGTGCTGCCATTGCCCTCCGCATTGAGCGCCTACCTATTGAAATCTTTACGTCGGGACAATGGGAGAGCGGCTAAAATTACCCTCTTGGGTCCTGGGCGGGCAAGATTCCTGAGCCCCTACCCCCGCCCCCATCTCATCCTCCTCTAACCCGGGCCTTGCTGGGCTCCCCCTTCCCCAGTCCCGGCCGCCTTCTCCCAGTGTGCGCTGCCTGCACCTGTGCCTGGAGAGCATCGACCCCGCCTCCCAGGCCTTGAGCCCCTTTGCGGCGCAGCCCCAGCCTTGCGCGGCCTGGGCTTTGCGGCCAC... |
Task1_train_7886 | Given a variant located on Chromosome 3 and affecting LOC108281177, SOX2, SOX2-OT (SOX2 5' regulatory region| SRY-box transcription factor 2| SOX2 overlapping transcript), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Anophthalmia/microphthalmia-esophageal atresia syndrome | AATCTTTACGTCGGGACAATGGGAGAGCGGCTAAAATTACCCTCTTGGGTCCTGGGCGGGCAAGATTCCTGAGCCCCTACCCCCGCCCCCATCTCATCCTCCTCTAACCCGGGCCTTGCTGGGCTCCCCCTTCCCCAGTCCCGGCCGCCTTCTCCCAGTGTGCGCTGCCTGCACCTGTGCCTGGAGAGCATCGACCCCGCCTCCCAGGCCTTGAGCCCCTTTGCGGCGCAGCCCCAGCCTTGCGCGGCCTGGGCTTTGCGGCCACCACAATGGAAATCTACGGGGAAAATGCCAGGGCTGGTTCTGCTGGAGTCCTGGGA... | AATCTTTACGTCGGGACAATGGGAGAGCGGCTAAAATTACCCTCTTGGGTCCTGGGCGGGCAAGATTCCTGAGCCCCTACCCCCGCCCCCATCTCATCCTCCTCTAACCCGGGCCTTGCTGGGCTCCCCCTTCCCCAGTCCCGGCCGCCTTCTCCCAGTGTGCGCTGCCTGCACCTGTGCCTGGAGAGCATCGACCCCGCCTCCCAGGCCTTGAGCCCCTTTGCGGCGCAGCCCCAGCCTTGCGCGGCCTGGGCTTTGCGGCCACCACAATGGAAATCTACGGGGAAAATGCCAGGGCTGGTTCTGCTGGAGTCCTGGGA... |
Task1_train_7887 | This sequence variant lies in LOC108281177, SOX2, SOX2-OT (SOX2 5' regulatory region| SRY-box transcription factor 2| SOX2 overlapping transcript) on Chromosome 3. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Anophthalmia/microphthalmia-esophageal atresia syndrome | TGAGCCCCTACCCCCGCCCCCATCTCATCCTCCTCTAACCCGGGCCTTGCTGGGCTCCCCCTTCCCCAGTCCCGGCCGCCTTCTCCCAGTGTGCGCTGCCTGCACCTGTGCCTGGAGAGCATCGACCCCGCCTCCCAGGCCTTGAGCCCCTTTGCGGCGCAGCCCCAGCCTTGCGCGGCCTGGGCTTTGCGGCCACCACAATGGAAATCTACGGGGAAAATGCCAGGGCTGGTTCTGCTGGAGTCCTGGGAACTCTGCGTGGGAGGGAGTTTGTGACTGCGGCCCAAAAGCCACCTCCATACAGTGCCGTGGGATGCCAG... | TGAGCCCCTACCCCCGCCCCCATCTCATCCTCCTCTAACCCGGGCCTTGCTGGGCTCCCCCTTCCCCAGTCCCGGCCGCCTTCTCCCAGTGTGCGCTGCCTGCACCTGTGCCTGGAGAGCATCGACCCCGCCTCCCAGGCCTTGAGCCCCTTTGCGGCGCAGCCCCAGCCTTGCGCGGCCTGGGCTTTGCGGCCACCACAATGGAAATCTACGGGGAAAATGCCAGGGCTGGTTCTGCTGGAGTCCTGGGAACTCTGCGTGGGAGGGAGTTTGTGACTGCGGCCCAAAAGCCACCTCCATACAGTGCCGTGGGATGCCAG... |
Task1_train_7888 | A genetic alteration is present in LOC108281177, SOX2, SOX2-OT (SOX2 5' regulatory region| SRY-box transcription factor 2| SOX2 overlapping transcript) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Anophthalmia/microphthalmia-esophageal atresia syndrome | CCGGGCCTTGCTGGGCTCCCCCTTCCCCAGTCCCGGCCGCCTTCTCCCAGTGTGCGCTGCCTGCACCTGTGCCTGGAGAGCATCGACCCCGCCTCCCAGGCCTTGAGCCCCTTTGCGGCGCAGCCCCAGCCTTGCGCGGCCTGGGCTTTGCGGCCACCACAATGGAAATCTACGGGGAAAATGCCAGGGCTGGTTCTGCTGGAGTCCTGGGAACTCTGCGTGGGAGGGAGTTTGTGACTGCGGCCCAAAAGCCACCTCCATACAGTGCCGTGGGATGCCAGGAAGTTGAAATCACCCTCCCCCATCGCCTGCACTTTTGA... | CCGGGCCTTGCTGGGCTCCCCCTTCCCCAGTCCCGGCCGCCTTCTCCCAGTGTGCGCTGCCTGCACCTGTGCCTGGAGAGCATCGACCCCGCCTCCCAGGCCTTGAGCCCCTTTGCGGCGCAGCCCCAGCCTTGCGCGGCCTGGGCTTTGCGGCCACCACAATGGAAATCTACGGGGAAAATGCCAGGGCTGGTTCTGCTGGAGTCCTGGGAACTCTGCGTGGGAGGGAGTTTGTGACTGCGGCCCAAAAGCCACCTCCATACAGTGCCGTGGGATGCCAGGAAGTTGAAATCACCCTCCCCCATCGCCTGCACTTTTGA... |
Task1_train_7889 | Here is a variant affecting MCCC1 (methylcrotonyl-CoA carboxylase subunit 1) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; 3-methylcrotonyl-CoA carboxylase 1 deficiency | TTATTAGCATTTTTTGGAGACTTAGCTATGTATCATTTTCTGAAAGCTCTTACATACAGACTTGGATTATTTTCATAGAATACTGCCAAAAGGGTGTAGTGAACAGCAATCATGTTGGCTTTTCAATTATGTATTTATTTTTTCATGAAAACTTTTTTTAATTCCAAAAAATGCAACATACTTCAAATCAGTGCTTGGTGCTTTAGTGAAGAGCCATGCCAAATAACACAGTTGGCCTATATGAATTACAATCAAATATGTAATTCTTCTGTTCAATTCAGGTTGAAGAAGCCAGTGAAACTTTACCGCTTTTGATATTT... | TTATTAGCATTTTTTGGAGACTTAGCTATGTATCATTTTCTGAAAGCTCTTACATACAGACTTGGATTATTTTCATAGAATACTGCCAAAAGGGTGTAGTGAACAGCAATCATGTTGGCTTTTCAATTATGTATTTATTTTTTCATGAAAACTTTTTTTAATTCCAAAAAATGCAACATACTTCAAATCAGTGCTTGGTGCTTTAGTGAAGAGCCATGCCAAATAACACAGTTGGCCTATATGAATTACAATCAAATATGTAATTCTTCTGTTCAATTCAGGTTGAAGAAGCCAGTGAAACTTTACCGCTTTTGATATTT... |
Task1_train_7890 | Chromosome 3 houses a mutation in gene MCCC1 (methylcrotonyl-CoA carboxylase subunit 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; 3-methylcrotonyl-CoA carboxylase 1 deficiency | TCTGTACCAATTATAAACTTTCAAAAGGAAGGTCACAGTAAGACAACGTTCCATTCTAAAAACGTTAAGGTCAGGCTCAGGAATACCACATGGGACGTATTTAGATGCATTTTCATTCAATGTAAAAGGATAAAATGAGGATAGAGCACAAATCTTCTAAAGATGCAGTTTTCGGGACTTAAAACATTTTACATTTTAAGCTTTCCATACAGCTATCTTGAATGAATCTAAATGAATTCAGAAATTAAAGATTCTAATGATAGGATCCTATAATAATACGGGTTCAGTATCACTTACCCAAAATGCTTGGGACCAGAAGT... | TCTGTACCAATTATAAACTTTCAAAAGGAAGGTCACAGTAAGACAACGTTCCATTCTAAAAACGTTAAGGTCAGGCTCAGGAATACCACATGGGACGTATTTAGATGCATTTTCATTCAATGTAAAAGGATAAAATGAGGATAGAGCACAAATCTTCTAAAGATGCAGTTTTCGGGACTTAAAACATTTTACATTTTAAGCTTTCCATACAGCTATCTTGAATGAATCTAAATGAATTCAGAAATTAAAGATTCTAATGATAGGATCCTATAATAATACGGGTTCAGTATCACTTACCCAAAATGCTTGGGACCAGAAGT... |
Task1_train_7891 | Mutation context: Chromosome 3, Gene MCCC1 (methylcrotonyl-CoA carboxylase subunit 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; 3-methylcrotonyl-CoA carboxylase 1 deficiency | ATCTTGAATGAATCTAAATGAATTCAGAAATTAAAGATTCTAATGATAGGATCCTATAATAATACGGGTTCAGTATCACTTACCCAAAATGCTTGGGACCAGAAGTGTTTTGAATTTCAGATTTTTTTTTTTTTTTTTGGATTTTGGATTATTTGCATTATATTTAACTGGCTTAGCATCCCTGATCCAAGTATCTGGAATCTGAACTGTTCCAATGAGCATTTCCTTTGAGCATCATGTTAGTGCTGAAAAAGCTTCCGATTCTGGAGCATTTTGGATTTGGGGATTTGGGATGCTCAAACTGTATAGGGTAATATAAT... | ATCTTGAATGAATCTAAATGAATTCAGAAATTAAAGATTCTAATGATAGGATCCTATAATAATACGGGTTCAGTATCACTTACCCAAAATGCTTGGGACCAGAAGTGTTTTGAATTTCAGATTTTTTTTTTTTTTTTTGGATTTTGGATTATTTGCATTATATTTAACTGGCTTAGCATCCCTGATCCAAGTATCTGGAATCTGAACTGTTCCAATGAGCATTTCCTTTGAGCATCATGTTAGTGCTGAAAAAGCTTCCGATTCTGGAGCATTTTGGATTTGGGGATTTGGGATGCTCAAACTGTATAGGGTAATATAAT... |
Task1_train_7892 | A variant found in Chromosome 3 affects MCCC1 (methylcrotonyl-CoA carboxylase subunit 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Methylcrotonyl-CoA carboxylase deficiency | GGTTAAATAGTGTTTATGGGTGCATCCATGGTAAGTGAAGAGCTTTCCTTCATACTAAAAAACACATCTGAAAAGAATGGTGTCAGTCACTGAGAGGAGAAAAGAGAGGTCAGTGTGCCATACAGAAAGAAAAGCATGTTCAATGATGATTTGCAAAACTTGACAAGCAGAGGAAAGAGAAAAGCCTTCCATACCATGTGCCTGAAGAGTGAAAGTGTCGGTCATGGCTTTCTCCTTGAGGATGAGACCCAGGGCTGCCTGGCATAAAGACTCTTTGGCTGCAGCCTTCCGACTGAGCAACAACTGTTTGTGGTGTTGAG... | GGTTAAATAGTGTTTATGGGTGCATCCATGGTAAGTGAAGAGCTTTCCTTCATACTAAAAAACACATCTGAAAAGAATGGTGTCAGTCACTGAGAGGAGAAAAGAGAGGTCAGTGTGCCATACAGAAAGAAAAGCATGTTCAATGATGATTTGCAAAACTTGACAAGCAGAGGAAAGAGAAAAGCCTTCCATACCATGTGCCTGAAGAGTGAAAGTGTCGGTCATGGCTTTCTCCTTGAGGATGAGACCCAGGGCTGCCTGGCATAAAGACTCTTTGGCTGCAGCCTTCCGACTGAGCAACAACTGTTTGTGGTGTTGAG... |
Task1_train_7893 | This mutation is located in gene MCCC1 (methylcrotonyl-CoA carboxylase subunit 1) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; 3-methylcrotonyl-CoA carboxylase 1 deficiency | GGTTAAATAGTGTTTATGGGTGCATCCATGGTAAGTGAAGAGCTTTCCTTCATACTAAAAAACACATCTGAAAAGAATGGTGTCAGTCACTGAGAGGAGAAAAGAGAGGTCAGTGTGCCATACAGAAAGAAAAGCATGTTCAATGATGATTTGCAAAACTTGACAAGCAGAGGAAAGAGAAAAGCCTTCCATACCATGTGCCTGAAGAGTGAAAGTGTCGGTCATGGCTTTCTCCTTGAGGATGAGACCCAGGGCTGCCTGGCATAAAGACTCTTTGGCTGCAGCCTTCCGACTGAGCAACAACTGTTTGTGGTGTTGAG... | GGTTAAATAGTGTTTATGGGTGCATCCATGGTAAGTGAAGAGCTTTCCTTCATACTAAAAAACACATCTGAAAAGAATGGTGTCAGTCACTGAGAGGAGAAAAGAGAGGTCAGTGTGCCATACAGAAAGAAAAGCATGTTCAATGATGATTTGCAAAACTTGACAAGCAGAGGAAAGAGAAAAGCCTTCCATACCATGTGCCTGAAGAGTGAAAGTGTCGGTCATGGCTTTCTCCTTGAGGATGAGACCCAGGGCTGCCTGGCATAAAGACTCTTTGGCTGCAGCCTTCCGACTGAGCAACAACTGTTTGTGGTGTTGAG... |
Task1_train_7894 | With a mutation on Chromosome 3 in gene MCCC1 (methylcrotonyl-CoA carboxylase subunit 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; 3-methylcrotonyl-CoA carboxylase 1 deficiency | TGGTAAGTGAAGAGCTTTCCTTCATACTAAAAAACACATCTGAAAAGAATGGTGTCAGTCACTGAGAGGAGAAAAGAGAGGTCAGTGTGCCATACAGAAAGAAAAGCATGTTCAATGATGATTTGCAAAACTTGACAAGCAGAGGAAAGAGAAAAGCCTTCCATACCATGTGCCTGAAGAGTGAAAGTGTCGGTCATGGCTTTCTCCTTGAGGATGAGACCCAGGGCTGCCTGGCATAAAGACTCTTTGGCTGCAGCCTTCCGACTGAGCAACAACTGTTTGTGGTGTTGAGGGATGAAATCAGTGTGCACGTTCCCAGC... | TGGTAAGTGAAGAGCTTTCCTTCATACTAAAAAACACATCTGAAAAGAATGGTGTCAGTCACTGAGAGGAGAAAAGAGAGGTCAGTGTGCCATACAGAAAGAAAAGCATGTTCAATGATGATTTGCAAAACTTGACAAGCAGAGGAAAGAGAAAAGCCTTCCATACCATGTGCCTGAAGAGTGAAAGTGTCGGTCATGGCTTTCTCCTTGAGGATGAGACCCAGGGCTGCCTGGCATAAAGACTCTTTGGCTGCAGCCTTCCGACTGAGCAACAACTGTTTGTGGTGTTGAGGGATGAAATCAGTGTGCACGTTCCCAGC... |
Task1_train_7895 | Given this context: Chromosome 3, gene MCCC1 (methylcrotonyl-CoA carboxylase subunit 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; 3-methylcrotonyl-CoA carboxylase 1 deficiency | ATCACTGGGATGGTTACAGTCCTAGAGAACAAGAATCTGAACCAGGGCACATTCCACTGGTTAGAAATGGTTCAAGTAGAAAGGATGTGGTGTGTTGAAAAGAACGTTGTTGCAGGGTCTTTCCAGGATTTTGGCAGGTCACTTGACCTCTTTGAACCCCAGAGTCCTCGTTGATAAGATTAGAGGTGCCTACAGGTGGCTCACGCCTGTACTCCCAAGACTTTGGGAGGCCGAGGTGGGCAGATCACAAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAG... | ATCACTGGGATGGTTACAGTCCTAGAGAACAAGAATCTGAACCAGGGCACATTCCACTGGTTAGAAATGGTTCAAGTAGAAAGGATGTGGTGTGTTGAAAAGAACGTTGTTGCAGGGTCTTTCCAGGATTTTGGCAGGTCACTTGACCTCTTTGAACCCCAGAGTCCTCGTTGATAAGATTAGAGGTGCCTACAGGTGGCTCACGCCTGTACTCCCAAGACTTTGGGAGGCCGAGGTGGGCAGATCACAAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAG... |
Task1_train_7896 | A change on Chromosome 3 affects gene MCCC1 (methylcrotonyl-CoA carboxylase subunit 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Inborn genetic diseases | ATCACTGGGATGGTTACAGTCCTAGAGAACAAGAATCTGAACCAGGGCACATTCCACTGGTTAGAAATGGTTCAAGTAGAAAGGATGTGGTGTGTTGAAAAGAACGTTGTTGCAGGGTCTTTCCAGGATTTTGGCAGGTCACTTGACCTCTTTGAACCCCAGAGTCCTCGTTGATAAGATTAGAGGTGCCTACAGGTGGCTCACGCCTGTACTCCCAAGACTTTGGGAGGCCGAGGTGGGCAGATCACAAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAG... | ATCACTGGGATGGTTACAGTCCTAGAGAACAAGAATCTGAACCAGGGCACATTCCACTGGTTAGAAATGGTTCAAGTAGAAAGGATGTGGTGTGTTGAAAAGAACGTTGTTGCAGGGTCTTTCCAGGATTTTGGCAGGTCACTTGACCTCTTTGAACCCCAGAGTCCTCGTTGATAAGATTAGAGGTGCCTACAGGTGGCTCACGCCTGTACTCCCAAGACTTTGGGAGGCCGAGGTGGGCAGATCACAAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAG... |
Task1_train_7897 | This alteration occurs within gene MCCC1 (methylcrotonyl-CoA carboxylase subunit 1) located on Chromosome 3. Is it associated with a disease or is it a benign variant? | Pathogenic; 3-methylcrotonyl-CoA carboxylase 1 deficiency | TGTATGGCTAACATTTCATAAGTAAAGAACTTACATATTCAAAAAATGCTGCAGGCATGGAGTTACATAATAACTCAAATAAGCTATTGATGTCTCTGAAATAAGTTACTGAAATAAGCTATTGATGTCTCCACAATTCTAACTTAAGAGCATGCTGATTTGGATGGCTAGCCTATTCTTTCTTGAAAGGAAGCCTTCAATGTACCTTAGAAATGCCCCCCCCTTTTTTTTTGCCTTAATTGAATTTCATTTACTATGCCATGCTCAGGACAGTTGTTTTATAGGGCCTGAAACAAAAAACAATTTGGGGGTCTTCTCTA... | TGTATGGCTAACATTTCATAAGTAAAGAACTTACATATTCAAAAAATGCTGCAGGCATGGAGTTACATAATAACTCAAATAAGCTATTGATGTCTCTGAAATAAGTTACTGAAATAAGCTATTGATGTCTCCACAATTCTAACTTAAGAGCATGCTGATTTGGATGGCTAGCCTATTCTTTCTTGAAAGGAAGCCTTCAATGTACCTTAGAAATGCCCCCCCCTTTTTTTTTGCCTTAATTGAATTTCATTTACTATGCCATGCTCAGGACAGTTGTTTTATAGGGCCTGAAACAAAAAACAATTTGGGGGTCTTCTCTA... |
Task1_train_7898 | Consider this mutation in MCCC1 (methylcrotonyl-CoA carboxylase subunit 1) on Chromosome 3. Is this a benign change or a disease-causing variant? | Pathogenic; not specified | TTTGCCACATGCACACAATGTGGAATGATTGAATCAAGCCAATTAACCTAGGCATCATCTCACTTACCTAATATTTTTTCATGGTAAGACATTTAAAATTTACTCTCTTATTTTGGGAAAATTCTTTTTTTTTTTTTCTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGACACCACGCCCAGCTAATTTTGTATTTTTAATAGAGACGGGATTTC... | TTTGCCACATGCACACAATGTGGAATGATTGAATCAAGCCAATTAACCTAGGCATCATCTCACTTACCTAATATTTTTTCATGGTAAGACATTTAAAATTTACTCTCTTATTTTGGGAAAATTCTTTTTTTTTTTTTCTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGACACCACGCCCAGCTAATTTTGTATTTTTAATAGAGACGGGATTTC... |
Task1_train_7899 | Here is a variant affecting MCCC1 (methylcrotonyl-CoA carboxylase subunit 1) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; 3-methylcrotonyl-CoA carboxylase 1 deficiency | AGGACCTTGGTAATGTTTCTTCCTGTTTAAAACACCATGAAAATCACACAGAAATGTTACTGGAGAGCAAAGAATGAGAATGAGAATACGATCTTAACTGGCTGATAAGGACTCGACTGATAAGTTCAAGGTTTTTGGTAAAACTAGCATAACTGAGCCCAAAATGACCACTTTAACTAATATTAGACAGTGCACTTCTTTTCTCTTAAATTCAAGGTACTCATTAACATAAATTACTCAGCTTTTTAAACTTAAAATACAAAGCAACATAAAATAAAATTAAAAGATGCTTTGTTATGCCAAGGATCAAATTATAATAG... | AGGACCTTGGTAATGTTTCTTCCTGTTTAAAACACCATGAAAATCACACAGAAATGTTACTGGAGAGCAAAGAATGAGAATGAGAATACGATCTTAACTGGCTGATAAGGACTCGACTGATAAGTTCAAGGTTTTTGGTAAAACTAGCATAACTGAGCCCAAAATGACCACTTTAACTAATATTAGACAGTGCACTTCTTTTCTCTTAAATTCAAGGTACTCATTAACATAAATTACTCAGCTTTTTAAACTTAAAATACAAAGCAACATAAAATAAAATTAAAAGATGCTTTGTTATGCCAAGGATCAAATTATAATAG... |
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