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_9000 | Mutation context: Chromosome 5, Gene LOC110806263, TERT (TERT 5' regulatory region| telomerase reverse transcriptase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | GCTGGGATTACCGGCGTGAGCCACCGCACCTGGCCGTCAACACACAATTAAATCTTAAACACAAACCTGCATATTGGCTGACCACGTGCACCTGCAAAACCCTTACCTCCCACCCCCAGGAAGAGGGGGTTCTCGTCCCCACCTCTCATTCCCACCCTTGAAATTGCGAAGAGGATTATAGGTAACCTGCAGGCACCCTCGCCAGAGCGTCTGTGCTTCCAGACACTTCTCCCCATTGCCGGCAACCCGGCTCCACTGCCGCGCCCAGCCTCCTCTGTTCACTGCTCTGGCCTCGGCGCCTGGAAACCGCGTGTCCATCA... | GCTGGGATTACCGGCGTGAGCCACCGCACCTGGCCGTCAACACACAATTAAATCTTAAACACAAACCTGCATATTGGCTGACCACGTGCACCTGCAAAACCCTTACCTCCCACCCCCAGGAAGAGGGGGTTCTCGTCCCCACCTCTCATTCCCACCCTTGAAATTGCGAAGAGGATTATAGGTAACCTGCAGGCACCCTCGCCAGAGCGTCTGTGCTTCCAGACACTTCTCCCCATTGCCGGCAACCCGGCTCCACTGCCGCGCCCAGCCTCCTCTGTTCACTGCTCTGGCCTCGGCGCCTGGAAACCGCGTGTCCATCA... |
Task1_train_9001 | Here is a genetic alteration in SLC6A3 (solute carrier family 6 member 3) on Chromosome 5. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Classic dopamine transporter deficiency syndrome | GTGTATTACAAAAAATAAAAATAAAAATGACCTCTCCTTTCCCTTCCTAGGGCTTCATGTGCAATTAGAAATGGAAGCAACCGAATGCGGAACTTGGCAGTGCCTCCCTTGGAGAGGGAGTGGCCTGGGCTCCCCCTCCCACATAGATAGGCTCTGCCACCACACCCCCAGCGTCCCCCAGTCCCCAAACCCTAGAAGGAGGCAGCTTCAGCCTGGGGTGCTTCTGGGGGAGCTGTCCAGGTGCTGAAGTGACTCTGGGACCAAGCTCTGGATGTGCAGTTACCCTGTGCACTGCTACGAGTCATTTTCTGGGGTGGGTG... | GTGTATTACAAAAAATAAAAATAAAAATGACCTCTCCTTTCCCTTCCTAGGGCTTCATGTGCAATTAGAAATGGAAGCAACCGAATGCGGAACTTGGCAGTGCCTCCCTTGGAGAGGGAGTGGCCTGGGCTCCCCCTCCCACATAGATAGGCTCTGCCACCACACCCCCAGCGTCCCCCAGTCCCCAAACCCTAGAAGGAGGCAGCTTCAGCCTGGGGTGCTTCTGGGGGAGCTGTCCAGGTGCTGAAGTGACTCTGGGACCAAGCTCTGGATGTGCAGTTACCCTGTGCACTGCTACGAGTCATTTTCTGGGGTGGGTG... |
Task1_train_9002 | A variant affecting Chromosome 5, within the gene SLC6A3 (solute carrier family 6 member 3), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Classic dopamine transporter deficiency syndrome | TCTGCCTGCAACAGAGTCCCCTGTCCTCAGCAGGCACGTGTCTGGCCCTAGCCTGCAGGAATAGGCCTGCGCCTGGCCTTTTAAATAATCAAAGGCCAGAGCCAGGGGCCGTTCCTAAAGGTCTTTCAGGGGCCTCACTATCAGCCAAGCAGCGGGGTCAGACCTGGGCTCTCGCAGCTCCCAGATACCCTGGTGGATGGGGACAGCCTCCGCGTGGGGTGGGGGAGGCAGGCTCGCCTGAGATGTTCCGGGGCTTAGATGGTACCAGCCAGGAGCCTGGGAAGATATTCATCAGCTCAGGGAATGTAATGTCAACACCC... | TCTGCCTGCAACAGAGTCCCCTGTCCTCAGCAGGCACGTGTCTGGCCCTAGCCTGCAGGAATAGGCCTGCGCCTGGCCTTTTAAATAATCAAAGGCCAGAGCCAGGGGCCGTTCCTAAAGGTCTTTCAGGGGCCTCACTATCAGCCAAGCAGCGGGGTCAGACCTGGGCTCTCGCAGCTCCCAGATACCCTGGTGGATGGGGACAGCCTCCGCGTGGGGTGGGGGAGGCAGGCTCGCCTGAGATGTTCCGGGGCTTAGATGGTACCAGCCAGGAGCCTGGGAAGATATTCATCAGCTCAGGGAATGTAATGTCAACACCC... |
Task1_train_9003 | Gene SLC6A3 (solute carrier family 6 member 3), found on Chromosome 5, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Classic dopamine transporter deficiency syndrome | TTACACTTGCCTCATGACCCCCAGACCTGGCTCCACCGGCCCACCCACACAGGGCAGCACCTCTCAACGGCCTCCTGCCTCATACCCCAGCTGAGATGGCCCTTCCCCTCTTGCTGCATTGTCCTCCCACAGCAACATGGATGCCCCTGGGCGGCTTTGGGGCCTGCCACCTCCCCCACTTAGTCCACCTGATTTCCAACGATGCCCCAAGGGAGCTGCCATTTTTGTCATGCCAGCCTTCCGCCAACAGCTGCTTCTGTTTCTGGGCCTGTTTGCCAGGAAGGGTGCAGCCCTTTCTCCTCCCTTTCTGGACAAGGGTC... | TTACACTTGCCTCATGACCCCCAGACCTGGCTCCACCGGCCCACCCACACAGGGCAGCACCTCTCAACGGCCTCCTGCCTCATACCCCAGCTGAGATGGCCCTTCCCCTCTTGCTGCATTGTCCTCCCACAGCAACATGGATGCCCCTGGGCGGCTTTGGGGCCTGCCACCTCCCCCACTTAGTCCACCTGATTTCCAACGATGCCCCAAGGGAGCTGCCATTTTTGTCATGCCAGCCTTCCGCCAACAGCTGCTTCTGTTTCTGGGCCTGTTTGCCAGGAAGGGTGCAGCCCTTTCTCCTCCCTTTCTGGACAAGGGTC... |
Task1_train_9004 | This sequence change occurs on Chromosome 5, altering NDUFS6 (NADH:ubiquinone oxidoreductase subunit S6). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | TGGTCTAACGGATTGCAGAGCTACTGGCATTTTTGGCATTTTAGATAAATCTATTCCATCGGTATCATGTTTACTGAGGTGGATAACTGCATGGAGGTTCTGTGAGAGAATGTTCTTATGAAACGCACATGGGAGCCTGTGACAGACAGGCCCGAGCAATACAAATGTCCTCAGGTGGGACAGAACGATGTGGTGGGGAGAAGAGGGCGTGGCAGAGCCCACGGGGCACGTGTCAGCATTTGCTGGGTCCACGGGGACAGAAGGGAAAGGCTCTGTGCTGCTGGGATTCTTGCAGTGCCTCTCCGCGTTTGGAACTTTAT... | TGGTCTAACGGATTGCAGAGCTACTGGCATTTTTGGCATTTTAGATAAATCTATTCCATCGGTATCATGTTTACTGAGGTGGATAACTGCATGGAGGTTCTGTGAGAGAATGTTCTTATGAAACGCACATGGGAGCCTGTGACAGACAGGCCCGAGCAATACAAATGTCCTCAGGTGGGACAGAACGATGTGGTGGGGAGAAGAGGGCGTGGCAGAGCCCACGGGGCACGTGTCAGCATTTGCTGGGTCCACGGGGACAGAAGGGAAAGGCTCTGTGCTGCTGGGATTCTTGCAGTGCCTCTCCGCGTTTGGAACTTTAT... |
Task1_train_9005 | This variant affects the gene NDUFS6 (NADH:ubiquinone oxidoreductase subunit S6) found on Chromosome 5. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 9 | GGTCTAACGGATTGCAGAGCTACTGGCATTTTTGGCATTTTAGATAAATCTATTCCATCGGTATCATGTTTACTGAGGTGGATAACTGCATGGAGGTTCTGTGAGAGAATGTTCTTATGAAACGCACATGGGAGCCTGTGACAGACAGGCCCGAGCAATACAAATGTCCTCAGGTGGGACAGAACGATGTGGTGGGGAGAAGAGGGCGTGGCAGAGCCCACGGGGCACGTGTCAGCATTTGCTGGGTCCACGGGGACAGAAGGGAAAGGCTCTGTGCTGCTGGGATTCTTGCAGTGCCTCTCCGCGTTTGGAACTTTATT... | GGTCTAACGGATTGCAGAGCTACTGGCATTTTTGGCATTTTAGATAAATCTATTCCATCGGTATCATGTTTACTGAGGTGGATAACTGCATGGAGGTTCTGTGAGAGAATGTTCTTATGAAACGCACATGGGAGCCTGTGACAGACAGGCCCGAGCAATACAAATGTCCTCAGGTGGGACAGAACGATGTGGTGGGGAGAAGAGGGCGTGGCAGAGCCCACGGGGCACGTGTCAGCATTTGCTGGGTCCACGGGGACAGAAGGGAAAGGCTCTGTGCTGCTGGGATTCTTGCAGTGCCTCTCCGCGTTTGGAACTTTATT... |
Task1_train_9006 | This is a variant in NSUN2 (NOP2/Sun RNA methyltransferase 2), located on Chromosome 5. Is this mutation a likely cause of disease or not? | Pathogenic; Intellectual disability, autosomal recessive 5 | TCTCTGAGCGGGGACAATTTTGCGGTAATGAGACAGGCAAACAGCAAGTATCTCCAATGTGAGGAAAGAAAGCCCGGTGGACTCAGGCCAGCAAGTCCTGCCTGCAAAGAGTGACTCCAGCCACGAGTGAGGACAGGCTTGTGTGGACAAGAGCCTCTCTCACCTAAGAACTCAGGAGACCTGGCTTTTGGTCCCAGCCAAAAGCTTACAAGAGAAAAAGGAGCAAAATTAAACACCTAGAGTACTTAACTAGCCAACACAGACTTAGGAGAGTAGCAAATGCTTAAAGAATCTACAAACATTTGAAGCTAAGCAGCACA... | TCTCTGAGCGGGGACAATTTTGCGGTAATGAGACAGGCAAACAGCAAGTATCTCCAATGTGAGGAAAGAAAGCCCGGTGGACTCAGGCCAGCAAGTCCTGCCTGCAAAGAGTGACTCCAGCCACGAGTGAGGACAGGCTTGTGTGGACAAGAGCCTCTCTCACCTAAGAACTCAGGAGACCTGGCTTTTGGTCCCAGCCAAAAGCTTACAAGAGAAAAAGGAGCAAAATTAAACACCTAGAGTACTTAACTAGCCAACACAGACTTAGGAGAGTAGCAAATGCTTAAAGAATCTACAAACATTTGAAGCTAAGCAGCACA... |
Task1_train_9007 | This is a variant in MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase), located on Chromosome 5. Is this mutation a likely cause of disease or not? | Pathogenic; Methylcobalamin deficiency type cblE | GCTGCTCTTGTCTTACCCTTTGTATCCTATGCCTAAAGAATATATCTAAATGAATGGTGGTGATTGGTAAGTAAACATCTTATATCTTGTCTTCAGGGTGCTGTGACATCTGTGTGCCCTTCCAGAAGTCACAGAATTCCCCTTCCAGACTTTTGGTTTTCTTTTTTTTCCTTCCAGCAGTGTCACTATCATTTTCTCTCTTAATAGAGTCAGTTGTTACTCTCTTTTTGGCTCAGAATTGAGCATCTTTTCTAATTTAACTTTTTTCAGAAAGGTTGTTTAGCTAAATGTCTAAAAATGAGCTTCCTATAAAATTTTCT... | GCTGCTCTTGTCTTACCCTTTGTATCCTATGCCTAAAGAATATATCTAAATGAATGGTGGTGATTGGTAAGTAAACATCTTATATCTTGTCTTCAGGGTGCTGTGACATCTGTGTGCCCTTCCAGAAGTCACAGAATTCCCCTTCCAGACTTTTGGTTTTCTTTTTTTTCCTTCCAGCAGTGTCACTATCATTTTCTCTCTTAATAGAGTCAGTTGTTACTCTCTTTTTGGCTCAGAATTGAGCATCTTTTCTAATTTAACTTTTTTCAGAAAGGTTGTTTAGCTAAATGTCTAAAAATGAGCTTCCTATAAAATTTTCT... |
Task1_train_9008 | Gene MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase), found on Chromosome 5, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Neural tube defects, folate-sensitive | GCTGCTCTTGTCTTACCCTTTGTATCCTATGCCTAAAGAATATATCTAAATGAATGGTGGTGATTGGTAAGTAAACATCTTATATCTTGTCTTCAGGGTGCTGTGACATCTGTGTGCCCTTCCAGAAGTCACAGAATTCCCCTTCCAGACTTTTGGTTTTCTTTTTTTTCCTTCCAGCAGTGTCACTATCATTTTCTCTCTTAATAGAGTCAGTTGTTACTCTCTTTTTGGCTCAGAATTGAGCATCTTTTCTAATTTAACTTTTTTCAGAAAGGTTGTTTAGCTAAATGTCTAAAAATGAGCTTCCTATAAAATTTTCT... | GCTGCTCTTGTCTTACCCTTTGTATCCTATGCCTAAAGAATATATCTAAATGAATGGTGGTGATTGGTAAGTAAACATCTTATATCTTGTCTTCAGGGTGCTGTGACATCTGTGTGCCCTTCCAGAAGTCACAGAATTCCCCTTCCAGACTTTTGGTTTTCTTTTTTTTCCTTCCAGCAGTGTCACTATCATTTTCTCTCTTAATAGAGTCAGTTGTTACTCTCTTTTTGGCTCAGAATTGAGCATCTTTTCTAATTTAACTTTTTTCAGAAAGGTTGTTTAGCTAAATGTCTAAAAATGAGCTTCCTATAAAATTTTCT... |
Task1_train_9009 | A mutation found in MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase) on Chromosome 5 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Methylcobalamin deficiency type cblE | TAGTTCAATATTTAAATACAGATTATTTAACCTGCTTTTGAAAGAATACCTACGTATTTTGAAATCACTGATTTTTTTTGATAAATTTTTAAAAACCAAACACTTTAATTATTTTAAATGTAAGATGGAAAATATTTCAAGCCTAAGCATTTTCAGTAATTCTTGAAAGAGTAGCCTTTAATCTTTTTGGGATCATGACTTTATTTTAAATCTGAAAACTGGGCACCTCCCTGCAGAAAACTGCGCACCTCCCTGCAGAAAACTGCACATATACCTAGTAAGGGTTTGCTGAGCTCCTCACCTCTGAAGCCAACTTATGG... | TAGTTCAATATTTAAATACAGATTATTTAACCTGCTTTTGAAAGAATACCTACGTATTTTGAAATCACTGATTTTTTTTGATAAATTTTTAAAAACCAAACACTTTAATTATTTTAAATGTAAGATGGAAAATATTTCAAGCCTAAGCATTTTCAGTAATTCTTGAAAGAGTAGCCTTTAATCTTTTTGGGATCATGACTTTATTTTAAATCTGAAAACTGGGCACCTCCCTGCAGAAAACTGCGCACCTCCCTGCAGAAAACTGCACATATACCTAGTAAGGGTTTGCTGAGCTCCTCACCTCTGAAGCCAACTTATGG... |
Task1_train_9010 | A variant found in Chromosome 5 affects MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Inborn genetic diseases | TAGTTCAATATTTAAATACAGATTATTTAACCTGCTTTTGAAAGAATACCTACGTATTTTGAAATCACTGATTTTTTTTGATAAATTTTTAAAAACCAAACACTTTAATTATTTTAAATGTAAGATGGAAAATATTTCAAGCCTAAGCATTTTCAGTAATTCTTGAAAGAGTAGCCTTTAATCTTTTTGGGATCATGACTTTATTTTAAATCTGAAAACTGGGCACCTCCCTGCAGAAAACTGCGCACCTCCCTGCAGAAAACTGCACATATACCTAGTAAGGGTTTGCTGAGCTCCTCACCTCTGAAGCCAACTTATGG... | TAGTTCAATATTTAAATACAGATTATTTAACCTGCTTTTGAAAGAATACCTACGTATTTTGAAATCACTGATTTTTTTTGATAAATTTTTAAAAACCAAACACTTTAATTATTTTAAATGTAAGATGGAAAATATTTCAAGCCTAAGCATTTTCAGTAATTCTTGAAAGAGTAGCCTTTAATCTTTTTGGGATCATGACTTTATTTTAAATCTGAAAACTGGGCACCTCCCTGCAGAAAACTGCGCACCTCCCTGCAGAAAACTGCACATATACCTAGTAAGGGTTTGCTGAGCTCCTCACCTCTGAAGCCAACTTATGG... |
Task1_train_9011 | With a mutation on Chromosome 5 in gene MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Neural tube defects, folate-sensitive | TAGTTCAATATTTAAATACAGATTATTTAACCTGCTTTTGAAAGAATACCTACGTATTTTGAAATCACTGATTTTTTTTGATAAATTTTTAAAAACCAAACACTTTAATTATTTTAAATGTAAGATGGAAAATATTTCAAGCCTAAGCATTTTCAGTAATTCTTGAAAGAGTAGCCTTTAATCTTTTTGGGATCATGACTTTATTTTAAATCTGAAAACTGGGCACCTCCCTGCAGAAAACTGCGCACCTCCCTGCAGAAAACTGCACATATACCTAGTAAGGGTTTGCTGAGCTCCTCACCTCTGAAGCCAACTTATGG... | TAGTTCAATATTTAAATACAGATTATTTAACCTGCTTTTGAAAGAATACCTACGTATTTTGAAATCACTGATTTTTTTTGATAAATTTTTAAAAACCAAACACTTTAATTATTTTAAATGTAAGATGGAAAATATTTCAAGCCTAAGCATTTTCAGTAATTCTTGAAAGAGTAGCCTTTAATCTTTTTGGGATCATGACTTTATTTTAAATCTGAAAACTGGGCACCTCCCTGCAGAAAACTGCGCACCTCCCTGCAGAAAACTGCACATATACCTAGTAAGGGTTTGCTGAGCTCCTCACCTCTGAAGCCAACTTATGG... |
Task1_train_9012 | An alteration has been detected in DNAH5 (dynein axonemal heavy chain 5) on Chromosome 5. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Primary ciliary dyskinesia | CATTTTAAATAGGAAAAAGTACCCCCCAAAAATTGAAAAACATAGTACTAAAGAGACAACAAACAGGACACTTAGTTGTAATATGAAAGCTGGAACAAGAAGGCACAGCCTCACCTTGTTTGGCCCCAGCTAGAAATATGTACGTCTGGCAACTCCAATTGTTTGCTGCTTTGCACATATTTGTGAATGACCATAAAAGTGGCATTAGTATTGATTTGGGGGCTACAGAGAAATTTTAGCAGGTAGGCAAATTCACAAATACAAATCTGTGAGTAACAAGGCCCAACTATATTTGTTTCTTTTATGGCTATCACCCCTGT... | CATTTTAAATAGGAAAAAGTACCCCCCAAAAATTGAAAAACATAGTACTAAAGAGACAACAAACAGGACACTTAGTTGTAATATGAAAGCTGGAACAAGAAGGCACAGCCTCACCTTGTTTGGCCCCAGCTAGAAATATGTACGTCTGGCAACTCCAATTGTTTGCTGCTTTGCACATATTTGTGAATGACCATAAAAGTGGCATTAGTATTGATTTGGGGGCTACAGAGAAATTTTAGCAGGTAGGCAAATTCACAAATACAAATCTGTGAGTAACAAGGCCCAACTATATTTGTTTCTTTTATGGCTATCACCCCTGT... |
Task1_train_9013 | This is a variant in DNAH5 (dynein axonemal heavy chain 5), located on Chromosome 5. Is this mutation a likely cause of disease or not? | Pathogenic; Primary ciliary dyskinesia | CAAATAAACTGTGAGATGGGGTATATATAAAAATATATGTACAGGCACCCCCAAATTTATACCTTCATGGCCACTTTTCTTATTCAGTGCTGATGATTTAAAGATACATGCAGTACAGTAAAACAAATATATTTGCTGATTTGAATTAATAAAAGTGCAGAGGCGGTAATATATGATAAACTCATTACATTTGTATATCAAAGCAACATGTAAATATACTGATAAATTTAGCCCTCTGGGGCTGTTATGTTTTAGTTTGTTTACTCTGAGATAAATCTTCGATAGAGACCAAAGAGACTGCTAAATAATGATATAATGAA... | CAAATAAACTGTGAGATGGGGTATATATAAAAATATATGTACAGGCACCCCCAAATTTATACCTTCATGGCCACTTTTCTTATTCAGTGCTGATGATTTAAAGATACATGCAGTACAGTAAAACAAATATATTTGCTGATTTGAATTAATAAAAGTGCAGAGGCGGTAATATATGATAAACTCATTACATTTGTATATCAAAGCAACATGTAAATATACTGATAAATTTAGCCCTCTGGGGCTGTTATGTTTTAGTTTGTTTACTCTGAGATAAATCTTCGATAGAGACCAAAGAGACTGCTAAATAATGATATAATGAA... |
Task1_train_9014 | This variant impacts the gene DNAH5 (dynein axonemal heavy chain 5) on Chromosome 5. Is the change likely to result in a pathogenic outcome? | Pathogenic; Primary ciliary dyskinesia 3 | AAAAGGTAAAGAAGAGTAGTTACTCAGTGCTCAGGTCCATGATTTGAAATAGACTTCCTTGATGCATTCGTATGTTTTCATACTTCAATATAAATAGAAAATAGTGTTTGCTTTTTGAGGGTATTGAGGCAGTTCTTTAGAAAGCACACACTTCCAACTGATCTGGACTCCCATTTTCATTTTCCAGGATTTTGAAGAACAAGCTTCCCCACCCACACCCCCTGAGAACAGGCCCCTTGAGGCTGTCTTCTTTGGAATGTCAACTCACTTTTGAGAAATAAAATAATAATCAAAATTTGATCAATTTTTCCTGAAATCAA... | AAAAGGTAAAGAAGAGTAGTTACTCAGTGCTCAGGTCCATGATTTGAAATAGACTTCCTTGATGCATTCGTATGTTTTCATACTTCAATATAAATAGAAAATAGTGTTTGCTTTTTGAGGGTATTGAGGCAGTTCTTTAGAAAGCACACACTTCCAACTGATCTGGACTCCCATTTTCATTTTCCAGGATTTTGAAGAACAAGCTTCCCCACCCACACCCCCTGAGAACAGGCCCCTTGAGGCTGTCTTCTTTGGAATGTCAACTCACTTTTGAGAAATAAAATAATAATCAAAATTTGATCAATTTTTCCTGAAATCAA... |
Task1_train_9015 | Here is a genetic alteration in DNAH5 (dynein axonemal heavy chain 5) on Chromosome 5. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Primary ciliary dyskinesia | TGGGGTGGAGGGTTGAGAGAAATAGAAAAATAATTTCCAAAATGAATAAGCATATTCGATTATTTCACTAGGGCAAGATGTATTAAAATCAATATACTTTTTTAAAAAATTAGAAACATATAATATACCAGCTTAACACTTTTCCAGTGTTAACTACAAAGCAGAGGCCAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAATTACAGAAATTAGCTAGGCCTGGTGGTGTATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGT... | TGGGGTGGAGGGTTGAGAGAAATAGAAAAATAATTTCCAAAATGAATAAGCATATTCGATTATTTCACTAGGGCAAGATGTATTAAAATCAATATACTTTTTTAAAAAATTAGAAACATATAATATACCAGCTTAACACTTTTCCAGTGTTAACTACAAAGCAGAGGCCAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAATTACAGAAATTAGCTAGGCCTGGTGGTGTATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGT... |
Task1_train_9016 | The variant affects gene DNAH5 (dynein axonemal heavy chain 5), which is on Chromosome 5. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Primary ciliary dyskinesia 3 | TGGGGTGGAGGGTTGAGAGAAATAGAAAAATAATTTCCAAAATGAATAAGCATATTCGATTATTTCACTAGGGCAAGATGTATTAAAATCAATATACTTTTTTAAAAAATTAGAAACATATAATATACCAGCTTAACACTTTTCCAGTGTTAACTACAAAGCAGAGGCCAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAATTACAGAAATTAGCTAGGCCTGGTGGTGTATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGT... | TGGGGTGGAGGGTTGAGAGAAATAGAAAAATAATTTCCAAAATGAATAAGCATATTCGATTATTTCACTAGGGCAAGATGTATTAAAATCAATATACTTTTTTAAAAAATTAGAAACATATAATATACCAGCTTAACACTTTTCCAGTGTTAACTACAAAGCAGAGGCCAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAATTACAGAAATTAGCTAGGCCTGGTGGTGTATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGT... |
Task1_train_9017 | This genomic variant is located on Chromosome 5, within the DNAH5 (dynein axonemal heavy chain 5) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Primary ciliary dyskinesia | TAGGGTCAGACTAACCAGAAAGGCTCAATGGCCAGAGCCAGAAGAGTCTGTGTGTGTCTGAACACTCATAGGAAAAGAACTTTTTAGTAGGAATGTAATTAGGTTGAACCTGTGGGTATAAAAAGTAATAAAGATTCAAAGAAGTTTGAAATTAAAGCCTAAGTGATAAGATGGAACAAAGATTATATATGTTAGGAAGTGTTATTCATGTTATAGTCTCATGTTTATTGCACTGTGTCATTATTTAGCATATATTTCTAGTAATTTTTACTGATATGTACTAAAAAATTGTGGCATGATGCCCACCTCCTGGTGGTCAT... | TAGGGTCAGACTAACCAGAAAGGCTCAATGGCCAGAGCCAGAAGAGTCTGTGTGTGTCTGAACACTCATAGGAAAAGAACTTTTTAGTAGGAATGTAATTAGGTTGAACCTGTGGGTATAAAAAGTAATAAAGATTCAAAGAAGTTTGAAATTAAAGCCTAAGTGATAAGATGGAACAAAGATTATATATGTTAGGAAGTGTTATTCATGTTATAGTCTCATGTTTATTGCACTGTGTCATTATTTAGCATATATTTCTAGTAATTTTTACTGATATGTACTAAAAAATTGTGGCATGATGCCCACCTCCTGGTGGTCAT... |
Task1_train_9018 | The gene DNAH5 (dynein axonemal heavy chain 5), on Chromosome 5, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not specified | TAGGGTCAGACTAACCAGAAAGGCTCAATGGCCAGAGCCAGAAGAGTCTGTGTGTGTCTGAACACTCATAGGAAAAGAACTTTTTAGTAGGAATGTAATTAGGTTGAACCTGTGGGTATAAAAAGTAATAAAGATTCAAAGAAGTTTGAAATTAAAGCCTAAGTGATAAGATGGAACAAAGATTATATATGTTAGGAAGTGTTATTCATGTTATAGTCTCATGTTTATTGCACTGTGTCATTATTTAGCATATATTTCTAGTAATTTTTACTGATATGTACTAAAAAATTGTGGCATGATGCCCACCTCCTGGTGGTCAT... | TAGGGTCAGACTAACCAGAAAGGCTCAATGGCCAGAGCCAGAAGAGTCTGTGTGTGTCTGAACACTCATAGGAAAAGAACTTTTTAGTAGGAATGTAATTAGGTTGAACCTGTGGGTATAAAAAGTAATAAAGATTCAAAGAAGTTTGAAATTAAAGCCTAAGTGATAAGATGGAACAAAGATTATATATGTTAGGAAGTGTTATTCATGTTATAGTCTCATGTTTATTGCACTGTGTCATTATTTAGCATATATTTCTAGTAATTTTTACTGATATGTACTAAAAAATTGTGGCATGATGCCCACCTCCTGGTGGTCAT... |
Task1_train_9019 | Gene DNAH5 (dynein axonemal heavy chain 5) on Chromosome 5 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Primary ciliary dyskinesia 3 | TAGGGTCAGACTAACCAGAAAGGCTCAATGGCCAGAGCCAGAAGAGTCTGTGTGTGTCTGAACACTCATAGGAAAAGAACTTTTTAGTAGGAATGTAATTAGGTTGAACCTGTGGGTATAAAAAGTAATAAAGATTCAAAGAAGTTTGAAATTAAAGCCTAAGTGATAAGATGGAACAAAGATTATATATGTTAGGAAGTGTTATTCATGTTATAGTCTCATGTTTATTGCACTGTGTCATTATTTAGCATATATTTCTAGTAATTTTTACTGATATGTACTAAAAAATTGTGGCATGATGCCCACCTCCTGGTGGTCAT... | TAGGGTCAGACTAACCAGAAAGGCTCAATGGCCAGAGCCAGAAGAGTCTGTGTGTGTCTGAACACTCATAGGAAAAGAACTTTTTAGTAGGAATGTAATTAGGTTGAACCTGTGGGTATAAAAAGTAATAAAGATTCAAAGAAGTTTGAAATTAAAGCCTAAGTGATAAGATGGAACAAAGATTATATATGTTAGGAAGTGTTATTCATGTTATAGTCTCATGTTTATTGCACTGTGTCATTATTTAGCATATATTTCTAGTAATTTTTACTGATATGTACTAAAAAATTGTGGCATGATGCCCACCTCCTGGTGGTCAT... |
Task1_train_9020 | Gene DNAH5 (dynein axonemal heavy chain 5), found on Chromosome 5, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Primary ciliary dyskinesia 3 | AGAACAAAGGCTAAAAGTCTGTGGGCATTTAATTCACAAAAGGGAGCTACACAGTAAATAAGATACTGAAAGACACTTAAATTATCTTCCATACAACTTGAGACAGTGAGAAGCTTTGCTCCTGGGCCATGATGTCCTAGTGCCATGGCAGAGGATTTAAGCGAAACATCAGAAAGAATTTTCTGATGAATTTAGTCCCTTCTTTCAACCCACACATCCCATAAAACAACAAGAAACATTGATTTTTGAACCATTAAAATCCATCCTGTTTTCCTTCCTCTCTGTCCCCTCTAACAAAGCCTTGTTACAGCTGTTCAGCC... | AGAACAAAGGCTAAAAGTCTGTGGGCATTTAATTCACAAAAGGGAGCTACACAGTAAATAAGATACTGAAAGACACTTAAATTATCTTCCATACAACTTGAGACAGTGAGAAGCTTTGCTCCTGGGCCATGATGTCCTAGTGCCATGGCAGAGGATTTAAGCGAAACATCAGAAAGAATTTTCTGATGAATTTAGTCCCTTCTTTCAACCCACACATCCCATAAAACAACAAGAAACATTGATTTTTGAACCATTAAAATCCATCCTGTTTTCCTTCCTCTCTGTCCCCTCTAACAAAGCCTTGTTACAGCTGTTCAGCC... |
Task1_train_9021 | A genomic change on Chromosome 5 affects DNAH5 (dynein axonemal heavy chain 5). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Primary ciliary dyskinesia | AGAACAAAGGCTAAAAGTCTGTGGGCATTTAATTCACAAAAGGGAGCTACACAGTAAATAAGATACTGAAAGACACTTAAATTATCTTCCATACAACTTGAGACAGTGAGAAGCTTTGCTCCTGGGCCATGATGTCCTAGTGCCATGGCAGAGGATTTAAGCGAAACATCAGAAAGAATTTTCTGATGAATTTAGTCCCTTCTTTCAACCCACACATCCCATAAAACAACAAGAAACATTGATTTTTGAACCATTAAAATCCATCCTGTTTTCCTTCCTCTCTGTCCCCTCTAACAAAGCCTTGTTACAGCTGTTCAGCC... | AGAACAAAGGCTAAAAGTCTGTGGGCATTTAATTCACAAAAGGGAGCTACACAGTAAATAAGATACTGAAAGACACTTAAATTATCTTCCATACAACTTGAGACAGTGAGAAGCTTTGCTCCTGGGCCATGATGTCCTAGTGCCATGGCAGAGGATTTAAGCGAAACATCAGAAAGAATTTTCTGATGAATTTAGTCCCTTCTTTCAACCCACACATCCCATAAAACAACAAGAAACATTGATTTTTGAACCATTAAAATCCATCCTGTTTTCCTTCCTCTCTGTCCCCTCTAACAAAGCCTTGTTACAGCTGTTCAGCC... |
Task1_train_9022 | A variant affecting Chromosome 5, within the gene DNAH5 (dynein axonemal heavy chain 5), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Primary ciliary dyskinesia | AATTCACAAAAGGGAGCTACACAGTAAATAAGATACTGAAAGACACTTAAATTATCTTCCATACAACTTGAGACAGTGAGAAGCTTTGCTCCTGGGCCATGATGTCCTAGTGCCATGGCAGAGGATTTAAGCGAAACATCAGAAAGAATTTTCTGATGAATTTAGTCCCTTCTTTCAACCCACACATCCCATAAAACAACAAGAAACATTGATTTTTGAACCATTAAAATCCATCCTGTTTTCCTTCCTCTCTGTCCCCTCTAACAAAGCCTTGTTACAGCTGTTCAGCCTTTTTTATCCTGATTTTGCAATGGCTTCTT... | AATTCACAAAAGGGAGCTACACAGTAAATAAGATACTGAAAGACACTTAAATTATCTTCCATACAACTTGAGACAGTGAGAAGCTTTGCTCCTGGGCCATGATGTCCTAGTGCCATGGCAGAGGATTTAAGCGAAACATCAGAAAGAATTTTCTGATGAATTTAGTCCCTTCTTTCAACCCACACATCCCATAAAACAACAAGAAACATTGATTTTTGAACCATTAAAATCCATCCTGTTTTCCTTCCTCTCTGTCCCCTCTAACAAAGCCTTGTTACAGCTGTTCAGCCTTTTTTATCCTGATTTTGCAATGGCTTCTT... |
Task1_train_9023 | This alteration in DNAH5 (dynein axonemal heavy chain 5) on Chromosome 5 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Primary ciliary dyskinesia | AATTCACAAAAGGGAGCTACACAGTAAATAAGATACTGAAAGACACTTAAATTATCTTCCATACAACTTGAGACAGTGAGAAGCTTTGCTCCTGGGCCATGATGTCCTAGTGCCATGGCAGAGGATTTAAGCGAAACATCAGAAAGAATTTTCTGATGAATTTAGTCCCTTCTTTCAACCCACACATCCCATAAAACAACAAGAAACATTGATTTTTGAACCATTAAAATCCATCCTGTTTTCCTTCCTCTCTGTCCCCTCTAACAAAGCCTTGTTACAGCTGTTCAGCCTTTTTTATCCTGATTTTGCAATGGCTTCTT... | AATTCACAAAAGGGAGCTACACAGTAAATAAGATACTGAAAGACACTTAAATTATCTTCCATACAACTTGAGACAGTGAGAAGCTTTGCTCCTGGGCCATGATGTCCTAGTGCCATGGCAGAGGATTTAAGCGAAACATCAGAAAGAATTTTCTGATGAATTTAGTCCCTTCTTTCAACCCACACATCCCATAAAACAACAAGAAACATTGATTTTTGAACCATTAAAATCCATCCTGTTTTCCTTCCTCTCTGTCCCCTCTAACAAAGCCTTGTTACAGCTGTTCAGCCTTTTTTATCCTGATTTTGCAATGGCTTCTT... |
Task1_train_9024 | A variant has been detected on Chromosome 5 in DNAH5 (dynein axonemal heavy chain 5). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Primary ciliary dyskinesia 3 | GAACTAAAAGACCACAAAAAAAGACCCAACTGCATGCTGCTTACAAGAGACTCATTCCACCTTAAAGTTCACTCACAGATTGAAAGTGAAGGGATGAAAAAATAAAGTTCATATAAATGAAAAAACAAAATAGACTTAACATCAAAAAGTGTAAAAAGAGACAAAGATCATCATATAATAAAAAGGGAATAAATTCTTCAAAATTATATTATAATCGTAAATACATATACACCCAACATTGGAGCATATAACTATATAAAGTAAATATTAAGAGATCTGAAGAGAGACACAGACTAGAACACAATAATAGTAGGGGATTT... | GAACTAAAAGACCACAAAAAAAGACCCAACTGCATGCTGCTTACAAGAGACTCATTCCACCTTAAAGTTCACTCACAGATTGAAAGTGAAGGGATGAAAAAATAAAGTTCATATAAATGAAAAAACAAAATAGACTTAACATCAAAAAGTGTAAAAAGAGACAAAGATCATCATATAATAAAAAGGGAATAAATTCTTCAAAATTATATTATAATCGTAAATACATATACACCCAACATTGGAGCATATAACTATATAAAGTAAATATTAAGAGATCTGAAGAGAGACACAGACTAGAACACAATAATAGTAGGGGATTT... |
Task1_train_9025 | A mutation on Chromosome 5 affecting TRIO (trio Rho guanine nucleotide exchange factor) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | TTGATCAGAGCTGGTTTGAAAGGCGGAGGGGGGGCGATGGTGGGGGAAGAAAGAGAGGCGGGGGTGTGAGAGAGAGAGAGAGAGAGAGAGTGCAGGCGAGCTTGGAAAACCTTGCCAGTGGTGCTTGTACTTCCTATGGGATTACTCAGGAGACACATAATGTCTAGTTCTCTCTTTTGTCTCTGTGATTGGTAAGAAGATTGATCAGTGGTTCAAGTACGGTCAGTGCAGTTCATCCCTCTGTACTTCCCATCAGCCTTTCAGCTAATGGTGTTAGTACCCAGTGGTAATAACTGTTTTTTAGGAATTGCAAAATGGTA... | TTGATCAGAGCTGGTTTGAAAGGCGGAGGGGGGGCGATGGTGGGGGAAGAAAGAGAGGCGGGGGTGTGAGAGAGAGAGAGAGAGAGAGAGTGCAGGCGAGCTTGGAAAACCTTGCCAGTGGTGCTTGTACTTCCTATGGGATTACTCAGGAGACACATAATGTCTAGTTCTCTCTTTTGTCTCTGTGATTGGTAAGAAGATTGATCAGTGGTTCAAGTACGGTCAGTGCAGTTCATCCCTCTGTACTTCCCATCAGCCTTTCAGCTAATGGTGTTAGTACCCAGTGGTAATAACTGTTTTTTAGGAATTGCAAAATGGTA... |
Task1_train_9026 | A genetic alteration is present in TRIO (trio Rho guanine nucleotide exchange factor) on Chromosome 5. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | GCTGGTTTGAAAGGCGGAGGGGGGGCGATGGTGGGGGAAGAAAGAGAGGCGGGGGTGTGAGAGAGAGAGAGAGAGAGAGAGTGCAGGCGAGCTTGGAAAACCTTGCCAGTGGTGCTTGTACTTCCTATGGGATTACTCAGGAGACACATAATGTCTAGTTCTCTCTTTTGTCTCTGTGATTGGTAAGAAGATTGATCAGTGGTTCAAGTACGGTCAGTGCAGTTCATCCCTCTGTACTTCCCATCAGCCTTTCAGCTAATGGTGTTAGTACCCAGTGGTAATAACTGTTTTTTAGGAATTGCAAAATGGTAATACTCTAA... | GCTGGTTTGAAAGGCGGAGGGGGGGCGATGGTGGGGGAAGAAAGAGAGGCGGGGGTGTGAGAGAGAGAGAGAGAGAGAGAGTGCAGGCGAGCTTGGAAAACCTTGCCAGTGGTGCTTGTACTTCCTATGGGATTACTCAGGAGACACATAATGTCTAGTTCTCTCTTTTGTCTCTGTGATTGGTAAGAAGATTGATCAGTGGTTCAAGTACGGTCAGTGCAGTTCATCCCTCTGTACTTCCCATCAGCCTTTCAGCTAATGGTGTTAGTACCCAGTGGTAATAACTGTTTTTTAGGAATTGCAAAATGGTAATACTCTAA... |
Task1_train_9027 | Consider a variant on Chromosome 5 in gene TRIO (trio Rho guanine nucleotide exchange factor). Determine its clinical classification and disease relevance. | Pathogenic; TRIO-related disorder | CTGGTTTGAAAGGCGGAGGGGGGGCGATGGTGGGGGAAGAAAGAGAGGCGGGGGTGTGAGAGAGAGAGAGAGAGAGAGAGTGCAGGCGAGCTTGGAAAACCTTGCCAGTGGTGCTTGTACTTCCTATGGGATTACTCAGGAGACACATAATGTCTAGTTCTCTCTTTTGTCTCTGTGATTGGTAAGAAGATTGATCAGTGGTTCAAGTACGGTCAGTGCAGTTCATCCCTCTGTACTTCCCATCAGCCTTTCAGCTAATGGTGTTAGTACCCAGTGGTAATAACTGTTTTTTAGGAATTGCAAAATGGTAATACTCTAAT... | CTGGTTTGAAAGGCGGAGGGGGGGCGATGGTGGGGGAAGAAAGAGAGGCGGGGGTGTGAGAGAGAGAGAGAGAGAGAGAGTGCAGGCGAGCTTGGAAAACCTTGCCAGTGGTGCTTGTACTTCCTATGGGATTACTCAGGAGACACATAATGTCTAGTTCTCTCTTTTGTCTCTGTGATTGGTAAGAAGATTGATCAGTGGTTCAAGTACGGTCAGTGCAGTTCATCCCTCTGTACTTCCCATCAGCCTTTCAGCTAATGGTGTTAGTACCCAGTGGTAATAACTGTTTTTTAGGAATTGCAAAATGGTAATACTCTAAT... |
Task1_train_9028 | This mutation is located in gene TRIO (trio Rho guanine nucleotide exchange factor) on Chromosome 5. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Inborn genetic diseases | CTGGTTTGAAAGGCGGAGGGGGGGCGATGGTGGGGGAAGAAAGAGAGGCGGGGGTGTGAGAGAGAGAGAGAGAGAGAGAGTGCAGGCGAGCTTGGAAAACCTTGCCAGTGGTGCTTGTACTTCCTATGGGATTACTCAGGAGACACATAATGTCTAGTTCTCTCTTTTGTCTCTGTGATTGGTAAGAAGATTGATCAGTGGTTCAAGTACGGTCAGTGCAGTTCATCCCTCTGTACTTCCCATCAGCCTTTCAGCTAATGGTGTTAGTACCCAGTGGTAATAACTGTTTTTTAGGAATTGCAAAATGGTAATACTCTAAT... | CTGGTTTGAAAGGCGGAGGGGGGGCGATGGTGGGGGAAGAAAGAGAGGCGGGGGTGTGAGAGAGAGAGAGAGAGAGAGAGTGCAGGCGAGCTTGGAAAACCTTGCCAGTGGTGCTTGTACTTCCTATGGGATTACTCAGGAGACACATAATGTCTAGTTCTCTCTTTTGTCTCTGTGATTGGTAAGAAGATTGATCAGTGGTTCAAGTACGGTCAGTGCAGTTCATCCCTCTGTACTTCCCATCAGCCTTTCAGCTAATGGTGTTAGTACCCAGTGGTAATAACTGTTTTTTAGGAATTGCAAAATGGTAATACTCTAAT... |
Task1_train_9029 | A variant has been detected on Chromosome 5 in TRIO (trio Rho guanine nucleotide exchange factor). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | CTGGTTTGAAAGGCGGAGGGGGGGCGATGGTGGGGGAAGAAAGAGAGGCGGGGGTGTGAGAGAGAGAGAGAGAGAGAGAGTGCAGGCGAGCTTGGAAAACCTTGCCAGTGGTGCTTGTACTTCCTATGGGATTACTCAGGAGACACATAATGTCTAGTTCTCTCTTTTGTCTCTGTGATTGGTAAGAAGATTGATCAGTGGTTCAAGTACGGTCAGTGCAGTTCATCCCTCTGTACTTCCCATCAGCCTTTCAGCTAATGGTGTTAGTACCCAGTGGTAATAACTGTTTTTTAGGAATTGCAAAATGGTAATACTCTAAT... | CTGGTTTGAAAGGCGGAGGGGGGGCGATGGTGGGGGAAGAAAGAGAGGCGGGGGTGTGAGAGAGAGAGAGAGAGAGAGAGTGCAGGCGAGCTTGGAAAACCTTGCCAGTGGTGCTTGTACTTCCTATGGGATTACTCAGGAGACACATAATGTCTAGTTCTCTCTTTTGTCTCTGTGATTGGTAAGAAGATTGATCAGTGGTTCAAGTACGGTCAGTGCAGTTCATCCCTCTGTACTTCCCATCAGCCTTTCAGCTAATGGTGTTAGTACCCAGTGGTAATAACTGTTTTTTAGGAATTGCAAAATGGTAATACTCTAAT... |
Task1_train_9030 | An alteration has been detected in TRIO (trio Rho guanine nucleotide exchange factor) on Chromosome 5. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | CTGGTTTGAAAGGCGGAGGGGGGGCGATGGTGGGGGAAGAAAGAGAGGCGGGGGTGTGAGAGAGAGAGAGAGAGAGAGAGTGCAGGCGAGCTTGGAAAACCTTGCCAGTGGTGCTTGTACTTCCTATGGGATTACTCAGGAGACACATAATGTCTAGTTCTCTCTTTTGTCTCTGTGATTGGTAAGAAGATTGATCAGTGGTTCAAGTACGGTCAGTGCAGTTCATCCCTCTGTACTTCCCATCAGCCTTTCAGCTAATGGTGTTAGTACCCAGTGGTAATAACTGTTTTTTAGGAATTGCAAAATGGTAATACTCTAAT... | CTGGTTTGAAAGGCGGAGGGGGGGCGATGGTGGGGGAAGAAAGAGAGGCGGGGGTGTGAGAGAGAGAGAGAGAGAGAGAGTGCAGGCGAGCTTGGAAAACCTTGCCAGTGGTGCTTGTACTTCCTATGGGATTACTCAGGAGACACATAATGTCTAGTTCTCTCTTTTGTCTCTGTGATTGGTAAGAAGATTGATCAGTGGTTCAAGTACGGTCAGTGCAGTTCATCCCTCTGTACTTCCCATCAGCCTTTCAGCTAATGGTGTTAGTACCCAGTGGTAATAACTGTTTTTTAGGAATTGCAAAATGGTAATACTCTAAT... |
Task1_train_9031 | A mutation on Chromosome 5 affecting TRIO (trio Rho guanine nucleotide exchange factor) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | TGAAAGGCGGAGGGGGGGCGATGGTGGGGGAAGAAAGAGAGGCGGGGGTGTGAGAGAGAGAGAGAGAGAGAGAGTGCAGGCGAGCTTGGAAAACCTTGCCAGTGGTGCTTGTACTTCCTATGGGATTACTCAGGAGACACATAATGTCTAGTTCTCTCTTTTGTCTCTGTGATTGGTAAGAAGATTGATCAGTGGTTCAAGTACGGTCAGTGCAGTTCATCCCTCTGTACTTCCCATCAGCCTTTCAGCTAATGGTGTTAGTACCCAGTGGTAATAACTGTTTTTTAGGAATTGCAAAATGGTAATACTCTAATTCTATC... | TGAAAGGCGGAGGGGGGGCGATGGTGGGGGAAGAAAGAGAGGCGGGGGTGTGAGAGAGAGAGAGAGAGAGAGAGTGCAGGCGAGCTTGGAAAACCTTGCCAGTGGTGCTTGTACTTCCTATGGGATTACTCAGGAGACACATAATGTCTAGTTCTCTCTTTTGTCTCTGTGATTGGTAAGAAGATTGATCAGTGGTTCAAGTACGGTCAGTGCAGTTCATCCCTCTGTACTTCCCATCAGCCTTTCAGCTAATGGTGTTAGTACCCAGTGGTAATAACTGTTTTTTAGGAATTGCAAAATGGTAATACTCTAATTCTATC... |
Task1_train_9032 | This variant impacts the gene TRIO (trio Rho guanine nucleotide exchange factor) on Chromosome 5. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | GCGATGGTGGGGGAAGAAAGAGAGGCGGGGGTGTGAGAGAGAGAGAGAGAGAGAGAGTGCAGGCGAGCTTGGAAAACCTTGCCAGTGGTGCTTGTACTTCCTATGGGATTACTCAGGAGACACATAATGTCTAGTTCTCTCTTTTGTCTCTGTGATTGGTAAGAAGATTGATCAGTGGTTCAAGTACGGTCAGTGCAGTTCATCCCTCTGTACTTCCCATCAGCCTTTCAGCTAATGGTGTTAGTACCCAGTGGTAATAACTGTTTTTTAGGAATTGCAAAATGGTAATACTCTAATTCTATCATTTCCTTTGGCCTCGA... | GCGATGGTGGGGGAAGAAAGAGAGGCGGGGGTGTGAGAGAGAGAGAGAGAGAGAGAGTGCAGGCGAGCTTGGAAAACCTTGCCAGTGGTGCTTGTACTTCCTATGGGATTACTCAGGAGACACATAATGTCTAGTTCTCTCTTTTGTCTCTGTGATTGGTAAGAAGATTGATCAGTGGTTCAAGTACGGTCAGTGCAGTTCATCCCTCTGTACTTCCCATCAGCCTTTCAGCTAATGGTGTTAGTACCCAGTGGTAATAACTGTTTTTTAGGAATTGCAAAATGGTAATACTCTAATTCTATCATTTCCTTTGGCCTCGA... |
Task1_train_9033 | A variant affecting Chromosome 5, within the gene TRIO (trio Rho guanine nucleotide exchange factor), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | ACTCACTTATTTGAAAACACTATAACAAAGGAAGCCTAATAGTAATAACCATCGAAATGGATGTGAAGAGAGAGAGCTGTTGAGAAGTCAGAGTTGAGTGAGGTTGCCAAATGGTATATATAACTTGTTGTATGGTTGTCTGTGTATCTCTGTGAAAAATAATAAACTATGCTTAACTTAATGAAAGATCTTTTCTGTGTACATACAAAATAGAATAATTTTAGAGAGAGCTCTCAAACAGGGAAACAAAATTTACAGTACCTCTATATAGATGATTTCCTGACTAGTGAATTTTCCTTCACATTTTCTGAGAGTTAAAG... | ACTCACTTATTTGAAAACACTATAACAAAGGAAGCCTAATAGTAATAACCATCGAAATGGATGTGAAGAGAGAGAGCTGTTGAGAAGTCAGAGTTGAGTGAGGTTGCCAAATGGTATATATAACTTGTTGTATGGTTGTCTGTGTATCTCTGTGAAAAATAATAAACTATGCTTAACTTAATGAAAGATCTTTTCTGTGTACATACAAAATAGAATAATTTTAGAGAGAGCTCTCAAACAGGGAAACAAAATTTACAGTACCTCTATATAGATGATTTCCTGACTAGTGAATTTTCCTTCACATTTTCTGAGAGTTAAAG... |
Task1_train_9034 | A variant found in Chromosome 5 affects TRIO (trio Rho guanine nucleotide exchange factor). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | TGCCCCCAATGTGAGGGGACACTTTGGTTGTCACAGTGGGGAGGGGGAGGGAGTGCTGTTGGCCTCTAGTGGGAAGCTGCTGAGCACTCTCCAGTGCAGAGGGCAGCCCCACAGCAGAGTTACCTGGCCCCAGATGTCCACAGTGCCAGGTTGAGAAACCCTGATCTGTCGGTACCTCAGTAAAGTGTGTGCAGAAATCTTTTTTTCCCCTTTGAATTAGCGGGTGGATACTGTTCTATTTGTGATTCACCTCTCCAAAATGATCAATCTAAGACTAATACTTTTAGACCCACTCTGTTATTTCATAAATCCATAAAAGT... | TGCCCCCAATGTGAGGGGACACTTTGGTTGTCACAGTGGGGAGGGGGAGGGAGTGCTGTTGGCCTCTAGTGGGAAGCTGCTGAGCACTCTCCAGTGCAGAGGGCAGCCCCACAGCAGAGTTACCTGGCCCCAGATGTCCACAGTGCCAGGTTGAGAAACCCTGATCTGTCGGTACCTCAGTAAAGTGTGTGCAGAAATCTTTTTTTCCCCTTTGAATTAGCGGGTGGATACTGTTCTATTTGTGATTCACCTCTCCAAAATGATCAATCTAAGACTAATACTTTTAGACCCACTCTGTTATTTCATAAATCCATAAAAGT... |
Task1_train_9035 | This genomic variant is located on Chromosome 5, within the TRIO (trio Rho guanine nucleotide exchange factor) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; TRIO-related disorder | AGTGAGGGCACATAGCACATTTAATGTTTGGAATCAAAGCCATTTTAGAAACCCTTATGCCCCAGCAAAATAAACTATCATCAGAGTGAACAGGCAACCAACAGAATGGGAGGAAATTTTTGCAGTCTAGCCATCTGACAAAGGGCTAACATCCAGAATCTACAATGAACTTAAACAAATTTACAAGAAAAAAAAAAAACCTATCAAAAAGTGGGCGAAGGATATGAACAGACACTTTTCAAAAGAAGACATTTATGCAGCCAACAAACATATGAAAAACTCATCATCACTGGTCATTAGAGAATGCAGATCAACCACAA... | AGTGAGGGCACATAGCACATTTAATGTTTGGAATCAAAGCCATTTTAGAAACCCTTATGCCCCAGCAAAATAAACTATCATCAGAGTGAACAGGCAACCAACAGAATGGGAGGAAATTTTTGCAGTCTAGCCATCTGACAAAGGGCTAACATCCAGAATCTACAATGAACTTAAACAAATTTACAAGAAAAAAAAAAAACCTATCAAAAAGTGGGCGAAGGATATGAACAGACACTTTTCAAAAGAAGACATTTATGCAGCCAACAAACATATGAAAAACTCATCATCACTGGTCATTAGAGAATGCAGATCAACCACAA... |
Task1_train_9036 | This variant affects gene TRIO (trio Rho guanine nucleotide exchange factor) located on Chromosome 5. Evaluate its biological effect and specify any disease association. | Pathogenic; Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | AGTGAGGGCACATAGCACATTTAATGTTTGGAATCAAAGCCATTTTAGAAACCCTTATGCCCCAGCAAAATAAACTATCATCAGAGTGAACAGGCAACCAACAGAATGGGAGGAAATTTTTGCAGTCTAGCCATCTGACAAAGGGCTAACATCCAGAATCTACAATGAACTTAAACAAATTTACAAGAAAAAAAAAAAACCTATCAAAAAGTGGGCGAAGGATATGAACAGACACTTTTCAAAAGAAGACATTTATGCAGCCAACAAACATATGAAAAACTCATCATCACTGGTCATTAGAGAATGCAGATCAACCACAA... | AGTGAGGGCACATAGCACATTTAATGTTTGGAATCAAAGCCATTTTAGAAACCCTTATGCCCCAGCAAAATAAACTATCATCAGAGTGAACAGGCAACCAACAGAATGGGAGGAAATTTTTGCAGTCTAGCCATCTGACAAAGGGCTAACATCCAGAATCTACAATGAACTTAAACAAATTTACAAGAAAAAAAAAAAACCTATCAAAAAGTGGGCGAAGGATATGAACAGACACTTTTCAAAAGAAGACATTTATGCAGCCAACAAACATATGAAAAACTCATCATCACTGGTCATTAGAGAATGCAGATCAACCACAA... |
Task1_train_9037 | This sequence change occurs on Chromosome 5, altering TRIO (trio Rho guanine nucleotide exchange factor). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; TRIO-related disorder | ACATAGCACATTTAATGTTTGGAATCAAAGCCATTTTAGAAACCCTTATGCCCCAGCAAAATAAACTATCATCAGAGTGAACAGGCAACCAACAGAATGGGAGGAAATTTTTGCAGTCTAGCCATCTGACAAAGGGCTAACATCCAGAATCTACAATGAACTTAAACAAATTTACAAGAAAAAAAAAAAACCTATCAAAAAGTGGGCGAAGGATATGAACAGACACTTTTCAAAAGAAGACATTTATGCAGCCAACAAACATATGAAAAACTCATCATCACTGGTCATTAGAGAATGCAGATCAACCACAATGAGATACT... | ACATAGCACATTTAATGTTTGGAATCAAAGCCATTTTAGAAACCCTTATGCCCCAGCAAAATAAACTATCATCAGAGTGAACAGGCAACCAACAGAATGGGAGGAAATTTTTGCAGTCTAGCCATCTGACAAAGGGCTAACATCCAGAATCTACAATGAACTTAAACAAATTTACAAGAAAAAAAAAAAACCTATCAAAAAGTGGGCGAAGGATATGAACAGACACTTTTCAAAAGAAGACATTTATGCAGCCAACAAACATATGAAAAACTCATCATCACTGGTCATTAGAGAATGCAGATCAACCACAATGAGATACT... |
Task1_train_9038 | This variant affects gene TRIO (trio Rho guanine nucleotide exchange factor) located on Chromosome 5. Evaluate its biological effect and specify any disease association. | Pathogenic; Inborn genetic diseases | ACATAGCACATTTAATGTTTGGAATCAAAGCCATTTTAGAAACCCTTATGCCCCAGCAAAATAAACTATCATCAGAGTGAACAGGCAACCAACAGAATGGGAGGAAATTTTTGCAGTCTAGCCATCTGACAAAGGGCTAACATCCAGAATCTACAATGAACTTAAACAAATTTACAAGAAAAAAAAAAAACCTATCAAAAAGTGGGCGAAGGATATGAACAGACACTTTTCAAAAGAAGACATTTATGCAGCCAACAAACATATGAAAAACTCATCATCACTGGTCATTAGAGAATGCAGATCAACCACAATGAGATACT... | ACATAGCACATTTAATGTTTGGAATCAAAGCCATTTTAGAAACCCTTATGCCCCAGCAAAATAAACTATCATCAGAGTGAACAGGCAACCAACAGAATGGGAGGAAATTTTTGCAGTCTAGCCATCTGACAAAGGGCTAACATCCAGAATCTACAATGAACTTAAACAAATTTACAAGAAAAAAAAAAAACCTATCAAAAAGTGGGCGAAGGATATGAACAGACACTTTTCAAAAGAAGACATTTATGCAGCCAACAAACATATGAAAAACTCATCATCACTGGTCATTAGAGAATGCAGATCAACCACAATGAGATACT... |
Task1_train_9039 | This alteration in TRIO (trio Rho guanine nucleotide exchange factor) on Chromosome 5 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | TAGCACATTTAATGTTTGGAATCAAAGCCATTTTAGAAACCCTTATGCCCCAGCAAAATAAACTATCATCAGAGTGAACAGGCAACCAACAGAATGGGAGGAAATTTTTGCAGTCTAGCCATCTGACAAAGGGCTAACATCCAGAATCTACAATGAACTTAAACAAATTTACAAGAAAAAAAAAAAACCTATCAAAAAGTGGGCGAAGGATATGAACAGACACTTTTCAAAAGAAGACATTTATGCAGCCAACAAACATATGAAAAACTCATCATCACTGGTCATTAGAGAATGCAGATCAACCACAATGAGATACTATC... | TAGCACATTTAATGTTTGGAATCAAAGCCATTTTAGAAACCCTTATGCCCCAGCAAAATAAACTATCATCAGAGTGAACAGGCAACCAACAGAATGGGAGGAAATTTTTGCAGTCTAGCCATCTGACAAAGGGCTAACATCCAGAATCTACAATGAACTTAAACAAATTTACAAGAAAAAAAAAAAACCTATCAAAAAGTGGGCGAAGGATATGAACAGACACTTTTCAAAAGAAGACATTTATGCAGCCAACAAACATATGAAAAACTCATCATCACTGGTCATTAGAGAATGCAGATCAACCACAATGAGATACTATC... |
Task1_train_9040 | Gene TRIO (trio Rho guanine nucleotide exchange factor) on Chromosome 5 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | TTTGTCTAGATATAAAAGAAATTTAGAAGATGGAGTTACAAATGCTGGAACTCTTCTTTACCCTTTTTGTTAGCAAGAAAAATCTACAGACAGTAATAAGTAGCTACATCGTTTTGTGAAAGTGATACTATTATGGGATTTTTCAATTGGAAAAGCTCTCCTGTACTTTTATATCAAAATGCCGTTAAGTGATTATGTGACCATTCCCGCAGAAATATATAGTTACTATGAATGCAAAATAAGTCAGGAGGCTAATTTGTTCATATTCAAATTTGTCCTTTGCTTTCTAATTCTACAAAGGCAGTTTACCTTTCAGTGTC... | TTTGTCTAGATATAAAAGAAATTTAGAAGATGGAGTTACAAATGCTGGAACTCTTCTTTACCCTTTTTGTTAGCAAGAAAAATCTACAGACAGTAATAAGTAGCTACATCGTTTTGTGAAAGTGATACTATTATGGGATTTTTCAATTGGAAAAGCTCTCCTGTACTTTTATATCAAAATGCCGTTAAGTGATTATGTGACCATTCCCGCAGAAATATATAGTTACTATGAATGCAAAATAAGTCAGGAGGCTAATTTGTTCATATTCAAATTTGTCCTTTGCTTTCTAATTCTACAAAGGCAGTTTACCTTTCAGTGTC... |
Task1_train_9041 | This gene mutation involves TRIO (trio Rho guanine nucleotide exchange factor) on Chromosome 5. Is it associated with any clinical condition, or is it benign? | Pathogenic; Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | TTGTCTAGATATAAAAGAAATTTAGAAGATGGAGTTACAAATGCTGGAACTCTTCTTTACCCTTTTTGTTAGCAAGAAAAATCTACAGACAGTAATAAGTAGCTACATCGTTTTGTGAAAGTGATACTATTATGGGATTTTTCAATTGGAAAAGCTCTCCTGTACTTTTATATCAAAATGCCGTTAAGTGATTATGTGACCATTCCCGCAGAAATATATAGTTACTATGAATGCAAAATAAGTCAGGAGGCTAATTTGTTCATATTCAAATTTGTCCTTTGCTTTCTAATTCTACAAAGGCAGTTTACCTTTCAGTGTCC... | TTGTCTAGATATAAAAGAAATTTAGAAGATGGAGTTACAAATGCTGGAACTCTTCTTTACCCTTTTTGTTAGCAAGAAAAATCTACAGACAGTAATAAGTAGCTACATCGTTTTGTGAAAGTGATACTATTATGGGATTTTTCAATTGGAAAAGCTCTCCTGTACTTTTATATCAAAATGCCGTTAAGTGATTATGTGACCATTCCCGCAGAAATATATAGTTACTATGAATGCAAAATAAGTCAGGAGGCTAATTTGTTCATATTCAAATTTGTCCTTTGCTTTCTAATTCTACAAAGGCAGTTTACCTTTCAGTGTCC... |
Task1_train_9042 | Here is a variant affecting TRIO (trio Rho guanine nucleotide exchange factor) on Chromosome 5. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | GAAGATGGAGTTACAAATGCTGGAACTCTTCTTTACCCTTTTTGTTAGCAAGAAAAATCTACAGACAGTAATAAGTAGCTACATCGTTTTGTGAAAGTGATACTATTATGGGATTTTTCAATTGGAAAAGCTCTCCTGTACTTTTATATCAAAATGCCGTTAAGTGATTATGTGACCATTCCCGCAGAAATATATAGTTACTATGAATGCAAAATAAGTCAGGAGGCTAATTTGTTCATATTCAAATTTGTCCTTTGCTTTCTAATTCTACAAAGGCAGTTTACCTTTCAGTGTCCTCAAGATGTAAGGATTTTGTTTTC... | GAAGATGGAGTTACAAATGCTGGAACTCTTCTTTACCCTTTTTGTTAGCAAGAAAAATCTACAGACAGTAATAAGTAGCTACATCGTTTTGTGAAAGTGATACTATTATGGGATTTTTCAATTGGAAAAGCTCTCCTGTACTTTTATATCAAAATGCCGTTAAGTGATTATGTGACCATTCCCGCAGAAATATATAGTTACTATGAATGCAAAATAAGTCAGGAGGCTAATTTGTTCATATTCAAATTTGTCCTTTGCTTTCTAATTCTACAAAGGCAGTTTACCTTTCAGTGTCCTCAAGATGTAAGGATTTTGTTTTC... |
Task1_train_9043 | The variant affects gene OTULIN (OTU deubiquitinase with linear linkage specificity), which is on Chromosome 5. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive | TGCAGGGAGGAGAGCAGGAAGGTAGATTTCCTTCCCAGGAGTCCCTTTCTGAGCTGGACATGTGCTTTCTGTTCAGGCTCATAACCCTACCTGGAGGAAAAATGTGGACCAATAAGTGTCCTGACTCTGGACATTCGCATTTCTTCCCTTTTGGGCAGGGGAATGGAAAGACAGCTACATGAGAATGCTTCCATCCACTAAGTAGACATGCAAAAAAATATTTCTCGAATTAAAAAAAATGAAGATTCTTTAAGGATTGGCTGTGCAGCATTGGTCTTTGTGGTCCCTGTATATTATACCTCAGGAGTCTGCTTCACTTT... | TGCAGGGAGGAGAGCAGGAAGGTAGATTTCCTTCCCAGGAGTCCCTTTCTGAGCTGGACATGTGCTTTCTGTTCAGGCTCATAACCCTACCTGGAGGAAAAATGTGGACCAATAAGTGTCCTGACTCTGGACATTCGCATTTCTTCCCTTTTGGGCAGGGGAATGGAAAGACAGCTACATGAGAATGCTTCCATCCACTAAGTAGACATGCAAAAAAATATTTCTCGAATTAAAAAAAATGAAGATTCTTTAAGGATTGGCTGTGCAGCATTGGTCTTTGTGGTCCCTGTATATTATACCTCAGGAGTCTGCTTCACTTT... |
Task1_train_9044 | This alteration occurs within gene OTULIN (OTU deubiquitinase with linear linkage specificity) located on Chromosome 5. Is it associated with a disease or is it a benign variant? | Pathogenic; Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive | CTTTTTTCTTCTGAATAAATTTGACTTCATTCTTTTCTGATGGCTTTTTTCATGCTTCATTTTTTAAAATTGTCTTAAGGATTTCTGCATTTCCTGGAAGTCTACAACCCTGAACTGTTTGACCAGTGTGTGAAGGGAATCAGAAACAATTGTTTCTCTCTGTGTAGTTAGGTCTTCAGGGTCTCCTGAGTAATTCAGTTGAGTACTGTACCTACTTTTTAGATAACTGTATCATGTCCCCAGATGCTCAGCCGGTCTTCTGGGCTTCCCTTCACCTCATTTCCCAGCTCACATCTGTGTAGCCAGTATTTTCTGCACAT... | CTTTTTTCTTCTGAATAAATTTGACTTCATTCTTTTCTGATGGCTTTTTTCATGCTTCATTTTTTAAAATTGTCTTAAGGATTTCTGCATTTCCTGGAAGTCTACAACCCTGAACTGTTTGACCAGTGTGTGAAGGGAATCAGAAACAATTGTTTCTCTCTGTGTAGTTAGGTCTTCAGGGTCTCCTGAGTAATTCAGTTGAGTACTGTACCTACTTTTTAGATAACTGTATCATGTCCCCAGATGCTCAGCCGGTCTTCTGGGCTTCCCTTCACCTCATTTCCCAGCTCACATCTGTGTAGCCAGTATTTTCTGCACAT... |
Task1_train_9045 | Consider a variant on Chromosome 5 in gene OTULIN (OTU deubiquitinase with linear linkage specificity). Determine its clinical classification and disease relevance. | Pathogenic; Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive | CCTCTGGGTTGGATGTCCTGCCTGCACACTGGCTTACATGACCCCTAGCTTGCTTTCATTGAGCAGCTTGGAGCCCTTCTCACCAAGAACCCTGATTGAGGGCCTGTCACTTGCGCCAGGGTGTCGGTGGAGGGTGGTCAAGTAGAGAGGGGTCAAACATGGACTTTTCAAGGTCCTTCCTAGCACGTACTTCAAACAGTGATTTCTGTACTCACACATGGTCTGCTGCTCCCATTAGACTTTCAGCTCCACGAGAGACTGTCCTGTGCATTCCTTGACACCCTGTGTCCAGCAGCAGGTCTGGCACATAATAGGTGTTC... | CCTCTGGGTTGGATGTCCTGCCTGCACACTGGCTTACATGACCCCTAGCTTGCTTTCATTGAGCAGCTTGGAGCCCTTCTCACCAAGAACCCTGATTGAGGGCCTGTCACTTGCGCCAGGGTGTCGGTGGAGGGTGGTCAAGTAGAGAGGGGTCAAACATGGACTTTTCAAGGTCCTTCCTAGCACGTACTTCAAACAGTGATTTCTGTACTCACACATGGTCTGCTGCTCCCATTAGACTTTCAGCTCCACGAGAGACTGTCCTGTGCATTCCTTGACACCCTGTGTCCAGCAGCAGGTCTGGCACATAATAGGTGTTC... |
Task1_train_9046 | The gene OTULIN (OTU deubiquitinase with linear linkage specificity), on Chromosome 5, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive | CACTGGCTTACATGACCCCTAGCTTGCTTTCATTGAGCAGCTTGGAGCCCTTCTCACCAAGAACCCTGATTGAGGGCCTGTCACTTGCGCCAGGGTGTCGGTGGAGGGTGGTCAAGTAGAGAGGGGTCAAACATGGACTTTTCAAGGTCCTTCCTAGCACGTACTTCAAACAGTGATTTCTGTACTCACACATGGTCTGCTGCTCCCATTAGACTTTCAGCTCCACGAGAGACTGTCCTGTGCATTCCTTGACACCCTGTGTCCAGCAGCAGGTCTGGCACATAATAGGTGTTCATTTAGTGCTTTATTGAATTAGTGAA... | CACTGGCTTACATGACCCCTAGCTTGCTTTCATTGAGCAGCTTGGAGCCCTTCTCACCAAGAACCCTGATTGAGGGCCTGTCACTTGCGCCAGGGTGTCGGTGGAGGGTGGTCAAGTAGAGAGGGGTCAAACATGGACTTTTCAAGGTCCTTCCTAGCACGTACTTCAAACAGTGATTTCTGTACTCACACATGGTCTGCTGCTCCCATTAGACTTTCAGCTCCACGAGAGACTGTCCTGTGCATTCCTTGACACCCTGTGTCCAGCAGCAGGTCTGGCACATAATAGGTGTTCATTTAGTGCTTTATTGAATTAGTGAA... |
Task1_train_9047 | The gene LOC100130744, ANKH, OTULIN (uncharacterized LOC100130744| ANKH inorganic pyrophosphate transport regulator| OTU deubiquitinase with linear linkage specificity) is located on Chromosome 5, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Craniometaphyseal dysplasia, autosomal dominant | GCCCTTTCCAATGAGGGCTGCGCTCTCCCCGACTCCTCACAGTCACCTGTAGACTGCTTCTCCTTCCTCCTCCCTAAAGCCTCAAGCTTGGAATCTCACATTATCAAAATATTCCACCTTGTACAGCATCCGTCAGTCACCTCTGGGACAGCTCCAGGCTTGCCGTCATTCTCTCCCACTTACTGCCTGTCCTAGTTCCTGGTCACTTCCCTGCCATGTTGCCTGTTCTTACAATAAATGGCCTCTCAGGGATCAGGTTCTCAGCCCCAGCCCCACCTCAGCCACTGCTGGGTCACTGCAGACCTTGCCATTATCGACAC... | GCCCTTTCCAATGAGGGCTGCGCTCTCCCCGACTCCTCACAGTCACCTGTAGACTGCTTCTCCTTCCTCCTCCCTAAAGCCTCAAGCTTGGAATCTCACATTATCAAAATATTCCACCTTGTACAGCATCCGTCAGTCACCTCTGGGACAGCTCCAGGCTTGCCGTCATTCTCTCCCACTTACTGCCTGTCCTAGTTCCTGGTCACTTCCCTGCCATGTTGCCTGTTCTTACAATAAATGGCCTCTCAGGGATCAGGTTCTCAGCCCCAGCCCCACCTCAGCCACTGCTGGGTCACTGCAGACCTTGCCATTATCGACAC... |
Task1_train_9048 | A sequence alteration has been identified in ANKH, LOC100130744, OTULIN (ANKH inorganic pyrophosphate transport regulator| uncharacterized LOC100130744| OTU deubiquitinase with linear linkage specificity) on Chromosome 5. Is it disease-inducing or harmless? | Pathogenic; Chondrocalcinosis 2 | CCAATGAGGGCTGCGCTCTCCCCGACTCCTCACAGTCACCTGTAGACTGCTTCTCCTTCCTCCTCCCTAAAGCCTCAAGCTTGGAATCTCACATTATCAAAATATTCCACCTTGTACAGCATCCGTCAGTCACCTCTGGGACAGCTCCAGGCTTGCCGTCATTCTCTCCCACTTACTGCCTGTCCTAGTTCCTGGTCACTTCCCTGCCATGTTGCCTGTTCTTACAATAAATGGCCTCTCAGGGATCAGGTTCTCAGCCCCAGCCCCACCTCAGCCACTGCTGGGTCACTGCAGACCTTGCCATTATCGACACACCAACA... | CCAATGAGGGCTGCGCTCTCCCCGACTCCTCACAGTCACCTGTAGACTGCTTCTCCTTCCTCCTCCCTAAAGCCTCAAGCTTGGAATCTCACATTATCAAAATATTCCACCTTGTACAGCATCCGTCAGTCACCTCTGGGACAGCTCCAGGCTTGCCGTCATTCTCTCCCACTTACTGCCTGTCCTAGTTCCTGGTCACTTCCCTGCCATGTTGCCTGTTCTTACAATAAATGGCCTCTCAGGGATCAGGTTCTCAGCCCCAGCCCCACCTCAGCCACTGCTGGGTCACTGCAGACCTTGCCATTATCGACACACCAACA... |
Task1_train_9049 | Gene ANKH, LOC100130744, OTULIN (ANKH inorganic pyrophosphate transport regulator| uncharacterized LOC100130744| OTU deubiquitinase with linear linkage specificity), found on Chromosome 5, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Craniometaphyseal dysplasia, autosomal dominant | CCAATGAGGGCTGCGCTCTCCCCGACTCCTCACAGTCACCTGTAGACTGCTTCTCCTTCCTCCTCCCTAAAGCCTCAAGCTTGGAATCTCACATTATCAAAATATTCCACCTTGTACAGCATCCGTCAGTCACCTCTGGGACAGCTCCAGGCTTGCCGTCATTCTCTCCCACTTACTGCCTGTCCTAGTTCCTGGTCACTTCCCTGCCATGTTGCCTGTTCTTACAATAAATGGCCTCTCAGGGATCAGGTTCTCAGCCCCAGCCCCACCTCAGCCACTGCTGGGTCACTGCAGACCTTGCCATTATCGACACACCAACA... | CCAATGAGGGCTGCGCTCTCCCCGACTCCTCACAGTCACCTGTAGACTGCTTCTCCTTCCTCCTCCCTAAAGCCTCAAGCTTGGAATCTCACATTATCAAAATATTCCACCTTGTACAGCATCCGTCAGTCACCTCTGGGACAGCTCCAGGCTTGCCGTCATTCTCTCCCACTTACTGCCTGTCCTAGTTCCTGGTCACTTCCCTGCCATGTTGCCTGTTCTTACAATAAATGGCCTCTCAGGGATCAGGTTCTCAGCCCCAGCCCCACCTCAGCCACTGCTGGGTCACTGCAGACCTTGCCATTATCGACACACCAACA... |
Task1_train_9050 | This alteration occurs within gene ANKH (ANKH inorganic pyrophosphate transport regulator) located on Chromosome 5. Is it associated with a disease or is it a benign variant? | Pathogenic; Craniometaphyseal dysplasia, autosomal dominant | CCCTTCATCTTACAGACAAGGAAGTGGTGTCAAATGGACAGTAAAGGTGAATCACATACTCAGCTATAGCCTGCTCCCAGCTGGGGCACTCCAGGCCCCTCCTCTGGTCACTACTGTAGAAATTAACTGCATGTGTCTCAATCTGCGAGTGCAGCTGCTTCTAGATGGTGGCACCTTCCAGAGCTTGGTTCGCCCTGTGTCTACCCAACAAGTACAGATGCCATCCCGGTGCTGTGATCTTCCAGCCATTTCTCCATTTCTGTCACAGCCCAGAAAGTGACGCCGCAAGGCCTTAGAGCAAGGGCCGTTCCATCAGCCCT... | CCCTTCATCTTACAGACAAGGAAGTGGTGTCAAATGGACAGTAAAGGTGAATCACATACTCAGCTATAGCCTGCTCCCAGCTGGGGCACTCCAGGCCCCTCCTCTGGTCACTACTGTAGAAATTAACTGCATGTGTCTCAATCTGCGAGTGCAGCTGCTTCTAGATGGTGGCACCTTCCAGAGCTTGGTTCGCCCTGTGTCTACCCAACAAGTACAGATGCCATCCCGGTGCTGTGATCTTCCAGCCATTTCTCCATTTCTGTCACAGCCCAGAAAGTGACGCCGCAAGGCCTTAGAGCAAGGGCCGTTCCATCAGCCCT... |
Task1_train_9051 | Here is a mutation in ANKH (ANKH inorganic pyrophosphate transport regulator) on Chromosome 5. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Craniometaphyseal dysplasia, autosomal dominant | ATTATGGGTTTTGACTAGTTCATCTCCAAGTTCCTGTCTGACAAAGGGTTCTGAATCTCTATTTCTAGAAGGTGAAAATTTACCCTGAGAAACTTCAAGTCACAGATGGTTTTTAGATAGAGGATTAGAATAATAAATAAAGCCTCTACCTGGGAAATGTAAGCATTTTCCCAGATTATAAGTCATTATCATTTCAAAATAAACTTGCAGAATATTTTTTTTAGAAGTATAAATTATTGCCTGTGAACTGAAAGAGAGGTGAATGTCCTTAAGCCCAATCCGGTAAAGCTCTCCATCAGATTCAACTCTAGCAGCGGAAA... | ATTATGGGTTTTGACTAGTTCATCTCCAAGTTCCTGTCTGACAAAGGGTTCTGAATCTCTATTTCTAGAAGGTGAAAATTTACCCTGAGAAACTTCAAGTCACAGATGGTTTTTAGATAGAGGATTAGAATAATAAATAAAGCCTCTACCTGGGAAATGTAAGCATTTTCCCAGATTATAAGTCATTATCATTTCAAAATAAACTTGCAGAATATTTTTTTTAGAAGTATAAATTATTGCCTGTGAACTGAAAGAGAGGTGAATGTCCTTAAGCCCAATCCGGTAAAGCTCTCCATCAGATTCAACTCTAGCAGCGGAAA... |
Task1_train_9052 | Gene ANKH (ANKH inorganic pyrophosphate transport regulator) on Chromosome 5 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Chondrocalcinosis 2 | AATGGCTGGGGGGTGGAGAGAGAGCAACATCCCATCATGGAGCTTGTGGCCACGATTATGGGAAACAAAATGGGCAGGATCTGGATATAGAAAAGCTTACAGGATTACTAAAAACAGAGGCAGAAAGGTGAACAAAGATGCCCGACGTAGCAGATGGCAAAGGCAAGAGAGCAGCTAAAGACTTAGGCAGAAAATGGTAAGGAGGCCAACACTCTAGAAAAGGGTACATCATTAAGATCTGATTTTCAGATGTTCAAAAGAAATTCATATGTGCTTTCGTAGCAACTGTGGAAAACATTTGTTTGGTGGATGGAAAAATG... | AATGGCTGGGGGGTGGAGAGAGAGCAACATCCCATCATGGAGCTTGTGGCCACGATTATGGGAAACAAAATGGGCAGGATCTGGATATAGAAAAGCTTACAGGATTACTAAAAACAGAGGCAGAAAGGTGAACAAAGATGCCCGACGTAGCAGATGGCAAAGGCAAGAGAGCAGCTAAAGACTTAGGCAGAAAATGGTAAGGAGGCCAACACTCTAGAAAAGGGTACATCATTAAGATCTGATTTTCAGATGTTCAAAAGAAATTCATATGTGCTTTCGTAGCAACTGTGGAAAACATTTGTTTGGTGGATGGAAAAATG... |
Task1_train_9053 | A sequence alteration has been identified in ANKH (ANKH inorganic pyrophosphate transport regulator) on Chromosome 5. Is it disease-inducing or harmless? | Pathogenic; not provided | CCCTTAACTCTGTGATAAAATATCTCCGCCCTCCAGGCAGCCTATAACCTCATACTCTGGTGTTTTTGGGAAAAGGACCTCAAATGACACTTGTTGATAACATTTTGCTTCTCTGCAAAAACACAACTCCATTAAGTACTTTGCTTACATCAGCCATGATAATCAGGTTAGCAATGTTTTAAGGATGAGTTAGAATTATTAGACCTGCGAGGATAAACCATCTGGATAGTTGTCTCTTATGTTTAACCTCCCTTTTGTGACTTCAGGAGATTCTTTTTCTTATACTAAAATCAAACCTAGTTATGTCAGCCTTTCATTAA... | CCCTTAACTCTGTGATAAAATATCTCCGCCCTCCAGGCAGCCTATAACCTCATACTCTGGTGTTTTTGGGAAAAGGACCTCAAATGACACTTGTTGATAACATTTTGCTTCTCTGCAAAAACACAACTCCATTAAGTACTTTGCTTACATCAGCCATGATAATCAGGTTAGCAATGTTTTAAGGATGAGTTAGAATTATTAGACCTGCGAGGATAAACCATCTGGATAGTTGTCTCTTATGTTTAACCTCCCTTTTGTGACTTCAGGAGATTCTTTTTCTTATACTAAAATCAAACCTAGTTATGTCAGCCTTTCATTAA... |
Task1_train_9054 | Consider this mutation in ANKH (ANKH inorganic pyrophosphate transport regulator) on Chromosome 5. Is this a benign change or a disease-causing variant? | Pathogenic; ANKH-related disorder | CCTTAACTCTGTGATAAAATATCTCCGCCCTCCAGGCAGCCTATAACCTCATACTCTGGTGTTTTTGGGAAAAGGACCTCAAATGACACTTGTTGATAACATTTTGCTTCTCTGCAAAAACACAACTCCATTAAGTACTTTGCTTACATCAGCCATGATAATCAGGTTAGCAATGTTTTAAGGATGAGTTAGAATTATTAGACCTGCGAGGATAAACCATCTGGATAGTTGTCTCTTATGTTTAACCTCCCTTTTGTGACTTCAGGAGATTCTTTTTCTTATACTAAAATCAAACCTAGTTATGTCAGCCTTTCATTAAA... | CCTTAACTCTGTGATAAAATATCTCCGCCCTCCAGGCAGCCTATAACCTCATACTCTGGTGTTTTTGGGAAAAGGACCTCAAATGACACTTGTTGATAACATTTTGCTTCTCTGCAAAAACACAACTCCATTAAGTACTTTGCTTACATCAGCCATGATAATCAGGTTAGCAATGTTTTAAGGATGAGTTAGAATTATTAGACCTGCGAGGATAAACCATCTGGATAGTTGTCTCTTATGTTTAACCTCCCTTTTGTGACTTCAGGAGATTCTTTTTCTTATACTAAAATCAAACCTAGTTATGTCAGCCTTTCATTAAA... |
Task1_train_9055 | This mutation is located in gene ANKH (ANKH inorganic pyrophosphate transport regulator) on Chromosome 5. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Chondrocalcinosis 2 | CCTTAACTCTGTGATAAAATATCTCCGCCCTCCAGGCAGCCTATAACCTCATACTCTGGTGTTTTTGGGAAAAGGACCTCAAATGACACTTGTTGATAACATTTTGCTTCTCTGCAAAAACACAACTCCATTAAGTACTTTGCTTACATCAGCCATGATAATCAGGTTAGCAATGTTTTAAGGATGAGTTAGAATTATTAGACCTGCGAGGATAAACCATCTGGATAGTTGTCTCTTATGTTTAACCTCCCTTTTGTGACTTCAGGAGATTCTTTTTCTTATACTAAAATCAAACCTAGTTATGTCAGCCTTTCATTAAA... | CCTTAACTCTGTGATAAAATATCTCCGCCCTCCAGGCAGCCTATAACCTCATACTCTGGTGTTTTTGGGAAAAGGACCTCAAATGACACTTGTTGATAACATTTTGCTTCTCTGCAAAAACACAACTCCATTAAGTACTTTGCTTACATCAGCCATGATAATCAGGTTAGCAATGTTTTAAGGATGAGTTAGAATTATTAGACCTGCGAGGATAAACCATCTGGATAGTTGTCTCTTATGTTTAACCTCCCTTTTGTGACTTCAGGAGATTCTTTTTCTTATACTAAAATCAAACCTAGTTATGTCAGCCTTTCATTAAA... |
Task1_train_9056 | Consider this mutation in PRDM9 (PR/SET domain 9) on Chromosome 5. Is this a benign change or a disease-causing variant? | Pathogenic; Genetic non-acquired premature ovarian failure | TCCCAATCTTACTGCTCTATTACCTCATTTTCCAGAAGTGCTTTGTCCCTCTGTGCTTCTCTACATTTCCCCTTCTATCAAAAGTCTACTAGTTTATGGAAGATTCCCTCCTTCTCTTTGTAAGCCCTTACCCCCTTCTTTCACAGATCTTGTTGATTCTCCAGCTAGTCTTCCCAAGTATTCCTCCTCCTTCCCTTTGACTTACATAGAACATTTTAGAGAAAGTTGAAGGAAAGAGCCTTAAGACATGGGTTAGAGTCCCAGATTCACTACTCACTTAGACCTTCTCTTTTCCCTCTAGTATTTAGACACTCTAGGTA... | TCCCAATCTTACTGCTCTATTACCTCATTTTCCAGAAGTGCTTTGTCCCTCTGTGCTTCTCTACATTTCCCCTTCTATCAAAAGTCTACTAGTTTATGGAAGATTCCCTCCTTCTCTTTGTAAGCCCTTACCCCCTTCTTTCACAGATCTTGTTGATTCTCCAGCTAGTCTTCCCAAGTATTCCTCCTCCTTCCCTTTGACTTACATAGAACATTTTAGAGAAAGTTGAAGGAAAGAGCCTTAAGACATGGGTTAGAGTCCCAGATTCACTACTCACTTAGACCTTCTCTTTTCCCTCTAGTATTTAGACACTCTAGGTA... |
Task1_train_9057 | This is a variant in PRDM9 (PR/SET domain 9), located on Chromosome 5. Is this mutation a likely cause of disease or not? | Pathogenic; Genetic non-acquired premature ovarian failure | GCTTTGTCCCTCTGTGCTTCTCTACATTTCCCCTTCTATCAAAAGTCTACTAGTTTATGGAAGATTCCCTCCTTCTCTTTGTAAGCCCTTACCCCCTTCTTTCACAGATCTTGTTGATTCTCCAGCTAGTCTTCCCAAGTATTCCTCCTCCTTCCCTTTGACTTACATAGAACATTTTAGAGAAAGTTGAAGGAAAGAGCCTTAAGACATGGGTTAGAGTCCCAGATTCACTACTCACTTAGACCTTCTCTTTTCCCTCTAGTATTTAGACACTCTAGGTATTTTCAAGGTTTGAACATTAACTAGAGTCATGCATATGA... | GCTTTGTCCCTCTGTGCTTCTCTACATTTCCCCTTCTATCAAAAGTCTACTAGTTTATGGAAGATTCCCTCCTTCTCTTTGTAAGCCCTTACCCCCTTCTTTCACAGATCTTGTTGATTCTCCAGCTAGTCTTCCCAAGTATTCCTCCTCCTTCCCTTTGACTTACATAGAACATTTTAGAGAAAGTTGAAGGAAAGAGCCTTAAGACATGGGTTAGAGTCCCAGATTCACTACTCACTTAGACCTTCTCTTTTCCCTCTAGTATTTAGACACTCTAGGTATTTTCAAGGTTTGAACATTAACTAGAGTCATGCATATGA... |
Task1_train_9058 | Chromosome 5 houses a mutation in gene TARS1 (threonyl-tRNA synthetase 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Trichothiodystrophy 7, nonphotosensitive | AAATGTTTTGGGAATTGTATTAAACATTGATTAAGCAAGTAAAAATTGTTTTCTAAACTGTGAACACTATTTTATTTTAATTTTTTTTTTTTTTAATGATGGAGTCTTGCTTTGTCACTCAGACTGTAGTGCAGTGGTGCGCTCTTGCCTCAGTACAACCTCCACCTCCCAGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGAGCGCACTACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCT... | AAATGTTTTGGGAATTGTATTAAACATTGATTAAGCAAGTAAAAATTGTTTTCTAAACTGTGAACACTATTTTATTTTAATTTTTTTTTTTTTTAATGATGGAGTCTTGCTTTGTCACTCAGACTGTAGTGCAGTGGTGCGCTCTTGCCTCAGTACAACCTCCACCTCCCAGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGAGCGCACTACCACACTTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCT... |
Task1_train_9059 | Consider a variant on Chromosome 5 in gene TARS1 (threonyl-tRNA synthetase 1). Determine its clinical classification and disease relevance. | Pathogenic; Trichothiodystrophy 7, nonphotosensitive | GCATGTGATGACAAGATTTTCTTTTTAATTCTCCATGGCTGTGTATCATATAAGGGGAGACAAAGTATTTTGTTTTAGTGATGATTGTTCACTTATGTATGTGGATTAGTGGTTTTCAAATGTATTTTGGAGCCCTCAAGTTTCTTACGAGAATTTTTTAATGTCACTTTGGTACCTTAATACTAAATCTTGAAAACATTGCTTTGGGTGTATTCTGACTCATCCCAGTGATTACTTTAAAACCAAGTACTGCCATTTGATTTCAGTGTACAGATGTTTGTCCTCGTGTTTTGTCATTGTGTTGTGGGGTCGGGTTGTAC... | GCATGTGATGACAAGATTTTCTTTTTAATTCTCCATGGCTGTGTATCATATAAGGGGAGACAAAGTATTTTGTTTTAGTGATGATTGTTCACTTATGTATGTGGATTAGTGGTTTTCAAATGTATTTTGGAGCCCTCAAGTTTCTTACGAGAATTTTTTAATGTCACTTTGGTACCTTAATACTAAATCTTGAAAACATTGCTTTGGGTGTATTCTGACTCATCCCAGTGATTACTTTAAAACCAAGTACTGCCATTTGATTTCAGTGTACAGATGTTTGTCCTCGTGTTTTGTCATTGTGTTGTGGGGTCGGGTTGTAC... |
Task1_train_9060 | Here is a genetic alteration in SLC45A2 (solute carrier family 45 member 2) on Chromosome 5. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | AGTCTGTCCACCCTTAAGTGGCTAAGGGTGGTCGTTTGCAGGAGCGATAGAGGGTGGAGGCAGGTGGGAGGCTATGGATGTGCTGACGCCAGCATGCACACAAGGACTCTACACTGCCTAGGTAGAGAGAGGAGTGGGGGAAGCAGTGAAGAGGGATGGGCTGTGGATCACATGCCTCCATTCATGTGCCAGACACCAGGCTAAGTGCTGTCCATACAGGAAGCAACGGAACCAAAGTGACTGGGTTCAAAGCCCAGCTCTGTCACTTAAGAATTGTGTGGTTTCAGATAAGTTATATCTTTCTGCCTCCATTTCTTTAT... | AGTCTGTCCACCCTTAAGTGGCTAAGGGTGGTCGTTTGCAGGAGCGATAGAGGGTGGAGGCAGGTGGGAGGCTATGGATGTGCTGACGCCAGCATGCACACAAGGACTCTACACTGCCTAGGTAGAGAGAGGAGTGGGGGAAGCAGTGAAGAGGGATGGGCTGTGGATCACATGCCTCCATTCATGTGCCAGACACCAGGCTAAGTGCTGTCCATACAGGAAGCAACGGAACCAAAGTGACTGGGTTCAAAGCCCAGCTCTGTCACTTAAGAATTGTGTGGTTTCAGATAAGTTATATCTTTCTGCCTCCATTTCTTTAT... |
Task1_train_9061 | This sequence variant lies in SLC45A2 (solute carrier family 45 member 2) on Chromosome 5. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | TCCACCCTTAAGTGGCTAAGGGTGGTCGTTTGCAGGAGCGATAGAGGGTGGAGGCAGGTGGGAGGCTATGGATGTGCTGACGCCAGCATGCACACAAGGACTCTACACTGCCTAGGTAGAGAGAGGAGTGGGGGAAGCAGTGAAGAGGGATGGGCTGTGGATCACATGCCTCCATTCATGTGCCAGACACCAGGCTAAGTGCTGTCCATACAGGAAGCAACGGAACCAAAGTGACTGGGTTCAAAGCCCAGCTCTGTCACTTAAGAATTGTGTGGTTTCAGATAAGTTATATCTTTCTGCCTCCATTTCTTTATCTAAAA... | TCCACCCTTAAGTGGCTAAGGGTGGTCGTTTGCAGGAGCGATAGAGGGTGGAGGCAGGTGGGAGGCTATGGATGTGCTGACGCCAGCATGCACACAAGGACTCTACACTGCCTAGGTAGAGAGAGGAGTGGGGGAAGCAGTGAAGAGGGATGGGCTGTGGATCACATGCCTCCATTCATGTGCCAGACACCAGGCTAAGTGCTGTCCATACAGGAAGCAACGGAACCAAAGTGACTGGGTTCAAAGCCCAGCTCTGTCACTTAAGAATTGTGTGGTTTCAGATAAGTTATATCTTTCTGCCTCCATTTCTTTATCTAAAA... |
Task1_train_9062 | This variant impacts the gene SLC45A2 (solute carrier family 45 member 2) on Chromosome 5. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | GAGGCTATGGATGTGCTGACGCCAGCATGCACACAAGGACTCTACACTGCCTAGGTAGAGAGAGGAGTGGGGGAAGCAGTGAAGAGGGATGGGCTGTGGATCACATGCCTCCATTCATGTGCCAGACACCAGGCTAAGTGCTGTCCATACAGGAAGCAACGGAACCAAAGTGACTGGGTTCAAAGCCCAGCTCTGTCACTTAAGAATTGTGTGGTTTCAGATAAGTTATATCTTTCTGCCTCCATTTCTTTATCTAAAAAATGGAGAGTGGTAACAGCACCCACTCCCACAATTGCTGTGTTAACGTTAAAGCATTTAGA... | GAGGCTATGGATGTGCTGACGCCAGCATGCACACAAGGACTCTACACTGCCTAGGTAGAGAGAGGAGTGGGGGAAGCAGTGAAGAGGGATGGGCTGTGGATCACATGCCTCCATTCATGTGCCAGACACCAGGCTAAGTGCTGTCCATACAGGAAGCAACGGAACCAAAGTGACTGGGTTCAAAGCCCAGCTCTGTCACTTAAGAATTGTGTGGTTTCAGATAAGTTATATCTTTCTGCCTCCATTTCTTTATCTAAAAAATGGAGAGTGGTAACAGCACCCACTCCCACAATTGCTGTGTTAACGTTAAAGCATTTAGA... |
Task1_train_9063 | This variant impacts the gene SLC45A2 (solute carrier family 45 member 2) on Chromosome 5. Is the change likely to result in a pathogenic outcome? | Pathogenic; Oculocutaneous albinism type 4 | CATGAATTGGTGATGTGGAACTGAACTGAATATTGATGGGTATTAGCATTTGATTTCATGTAATTTTCACCTGTCACAAGATATTAACCTTCTTTTGAAAGTTTTTTTCAATCATTTAAACAATTAAAAGGAATTCTTAGCTCGCAGACTGTACAAAAACAAGTGGCGGGCCATAATCAATACAATGTAGTGGATACTTAATAAATATCCCATTCTTTTCCTTTCTTAGTGTTAAAAATTCAAAGATTTTAAGAAGGATGTTGAATTGCTGATGTCCTTAAGAGAAGCAACTTTAAAAAGCATTTCAATCTTTCAAAATA... | CATGAATTGGTGATGTGGAACTGAACTGAATATTGATGGGTATTAGCATTTGATTTCATGTAATTTTCACCTGTCACAAGATATTAACCTTCTTTTGAAAGTTTTTTTCAATCATTTAAACAATTAAAAGGAATTCTTAGCTCGCAGACTGTACAAAAACAAGTGGCGGGCCATAATCAATACAATGTAGTGGATACTTAATAAATATCCCATTCTTTTCCTTTCTTAGTGTTAAAAATTCAAAGATTTTAAGAAGGATGTTGAATTGCTGATGTCCTTAAGAGAAGCAACTTTAAAAAGCATTTCAATCTTTCAAAATA... |
Task1_train_9064 | This sequence change occurs on Chromosome 5, altering SLC45A2 (solute carrier family 45 member 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Oculocutaneous albinism type 4 | TTCTTTTGAAAGTTTTTTTCAATCATTTAAACAATTAAAAGGAATTCTTAGCTCGCAGACTGTACAAAAACAAGTGGCGGGCCATAATCAATACAATGTAGTGGATACTTAATAAATATCCCATTCTTTTCCTTTCTTAGTGTTAAAAATTCAAAGATTTTAAGAAGGATGTTGAATTGCTGATGTCCTTAAGAGAAGCAACTTTAAAAAGCATTTCAATCTTTCAAAATATGGTTGCTACTTGATTAATATAATAATGTTTGGTTAATACTTGATATTTCTTCCGAACTGGCTGATAACTTTGTCATTTGTTGGGTATC... | TTCTTTTGAAAGTTTTTTTCAATCATTTAAACAATTAAAAGGAATTCTTAGCTCGCAGACTGTACAAAAACAAGTGGCGGGCCATAATCAATACAATGTAGTGGATACTTAATAAATATCCCATTCTTTTCCTTTCTTAGTGTTAAAAATTCAAAGATTTTAAGAAGGATGTTGAATTGCTGATGTCCTTAAGAGAAGCAACTTTAAAAAGCATTTCAATCTTTCAAAATATGGTTGCTACTTGATTAATATAATAATGTTTGGTTAATACTTGATATTTCTTCCGAACTGGCTGATAACTTTGTCATTTGTTGGGTATC... |
Task1_train_9065 | Located on Chromosome 5, this mutation impacts SLC45A2 (solute carrier family 45 member 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Oculocutaneous albinism type 4 | ATTTAAACAATTAAAAGGAATTCTTAGCTCGCAGACTGTACAAAAACAAGTGGCGGGCCATAATCAATACAATGTAGTGGATACTTAATAAATATCCCATTCTTTTCCTTTCTTAGTGTTAAAAATTCAAAGATTTTAAGAAGGATGTTGAATTGCTGATGTCCTTAAGAGAAGCAACTTTAAAAAGCATTTCAATCTTTCAAAATATGGTTGCTACTTGATTAATATAATAATGTTTGGTTAATACTTGATATTTCTTCCGAACTGGCTGATAACTTTGTCATTTGTTGGGTATCGCTTATGTGCTGGGCCTGGGTTTT... | ATTTAAACAATTAAAAGGAATTCTTAGCTCGCAGACTGTACAAAAACAAGTGGCGGGCCATAATCAATACAATGTAGTGGATACTTAATAAATATCCCATTCTTTTCCTTTCTTAGTGTTAAAAATTCAAAGATTTTAAGAAGGATGTTGAATTGCTGATGTCCTTAAGAGAAGCAACTTTAAAAAGCATTTCAATCTTTCAAAATATGGTTGCTACTTGATTAATATAATAATGTTTGGTTAATACTTGATATTTCTTCCGAACTGGCTGATAACTTTGTCATTTGTTGGGTATCGCTTATGTGCTGGGCCTGGGTTTT... |
Task1_train_9066 | A variant was discovered on Chromosome 5, affecting SLC45A2 (solute carrier family 45 member 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR | ATTTAAACAATTAAAAGGAATTCTTAGCTCGCAGACTGTACAAAAACAAGTGGCGGGCCATAATCAATACAATGTAGTGGATACTTAATAAATATCCCATTCTTTTCCTTTCTTAGTGTTAAAAATTCAAAGATTTTAAGAAGGATGTTGAATTGCTGATGTCCTTAAGAGAAGCAACTTTAAAAAGCATTTCAATCTTTCAAAATATGGTTGCTACTTGATTAATATAATAATGTTTGGTTAATACTTGATATTTCTTCCGAACTGGCTGATAACTTTGTCATTTGTTGGGTATCGCTTATGTGCTGGGCCTGGGTTTT... | ATTTAAACAATTAAAAGGAATTCTTAGCTCGCAGACTGTACAAAAACAAGTGGCGGGCCATAATCAATACAATGTAGTGGATACTTAATAAATATCCCATTCTTTTCCTTTCTTAGTGTTAAAAATTCAAAGATTTTAAGAAGGATGTTGAATTGCTGATGTCCTTAAGAGAAGCAACTTTAAAAAGCATTTCAATCTTTCAAAATATGGTTGCTACTTGATTAATATAATAATGTTTGGTTAATACTTGATATTTCTTCCGAACTGGCTGATAACTTTGTCATTTGTTGGGTATCGCTTATGTGCTGGGCCTGGGTTTT... |
Task1_train_9067 | The gene SLC45A2 (solute carrier family 45 member 2) is located on Chromosome 5, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Oculocutaneous albinism type 4 | ATTTAAACAATTAAAAGGAATTCTTAGCTCGCAGACTGTACAAAAACAAGTGGCGGGCCATAATCAATACAATGTAGTGGATACTTAATAAATATCCCATTCTTTTCCTTTCTTAGTGTTAAAAATTCAAAGATTTTAAGAAGGATGTTGAATTGCTGATGTCCTTAAGAGAAGCAACTTTAAAAAGCATTTCAATCTTTCAAAATATGGTTGCTACTTGATTAATATAATAATGTTTGGTTAATACTTGATATTTCTTCCGAACTGGCTGATAACTTTGTCATTTGTTGGGTATCGCTTATGTGCTGGGCCTGGGTTTT... | ATTTAAACAATTAAAAGGAATTCTTAGCTCGCAGACTGTACAAAAACAAGTGGCGGGCCATAATCAATACAATGTAGTGGATACTTAATAAATATCCCATTCTTTTCCTTTCTTAGTGTTAAAAATTCAAAGATTTTAAGAAGGATGTTGAATTGCTGATGTCCTTAAGAGAAGCAACTTTAAAAAGCATTTCAATCTTTCAAAATATGGTTGCTACTTGATTAATATAATAATGTTTGGTTAATACTTGATATTTCTTCCGAACTGGCTGATAACTTTGTCATTTGTTGGGTATCGCTTATGTGCTGGGCCTGGGTTTT... |
Task1_train_9068 | This variant affects the gene SLC45A2 (solute carrier family 45 member 2) found on Chromosome 5. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not provided | TGAGCAGAGCTGGCTGGTATTTTATAAATAAAATGTTGATTTGAATTAACAATGGTAGGGATCCCATAGATTTATACATTAATAAAACTTTGGAAAACTATTCAACTAATAATTTCTTTTGTAACTAGAAACGCTTTTAACTAGAAGGGACCTAAAAATAATATGCTTTAAAGTTTCAAATGCCATAAAATTTATGCGGACAAGACTAATGGAATGTTATCTAGTAGGAGTTCCCTGAGGAAAAATAAGTTTAGATTGACACTTTTCTTTCTGACAAAGATGAAGGTAGGGCTGGATGTAGTGCCTCATGCCTGTAATCC... | TGAGCAGAGCTGGCTGGTATTTTATAAATAAAATGTTGATTTGAATTAACAATGGTAGGGATCCCATAGATTTATACATTAATAAAACTTTGGAAAACTATTCAACTAATAATTTCTTTTGTAACTAGAAACGCTTTTAACTAGAAGGGACCTAAAAATAATATGCTTTAAAGTTTCAAATGCCATAAAATTTATGCGGACAAGACTAATGGAATGTTATCTAGTAGGAGTTCCCTGAGGAAAAATAAGTTTAGATTGACACTTTTCTTTCTGACAAAGATGAAGGTAGGGCTGGATGTAGTGCCTCATGCCTGTAATCC... |
Task1_train_9069 | A variant has been detected on Chromosome 5 in SLC45A2 (solute carrier family 45 member 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR | TTTATTTCTTATTTTGATTCAAGATGTGAGAGGTATTACAAACACTCAATTATGAGTGATGCATTTACGTGTCCTATTCTTCCATCTGTAGATAAGTGAAAAGTCATTTAAGAAATTAGAGGTCTCTGTAGTAAATCCAAGTCACAGTAAAGCAAACAAAAATGCATATGTGTGTGATATAATGTGGAACTTTACCCCCTTGGAAGACTTTGCAGGCTGTAAGAATTTCATTTTTAATGTATTTCATACAGGCCGGAGCTAACAAGTTAATTTCTATTGAGCAAAAGTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTAT... | TTTATTTCTTATTTTGATTCAAGATGTGAGAGGTATTACAAACACTCAATTATGAGTGATGCATTTACGTGTCCTATTCTTCCATCTGTAGATAAGTGAAAAGTCATTTAAGAAATTAGAGGTCTCTGTAGTAAATCCAAGTCACAGTAAAGCAAACAAAAATGCATATGTGTGTGATATAATGTGGAACTTTACCCCCTTGGAAGACTTTGCAGGCTGTAAGAATTTCATTTTTAATGTATTTCATACAGGCCGGAGCTAACAAGTTAATTTCTATTGAGCAAAAGTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTAT... |
Task1_train_9070 | Here is a variant affecting SLC45A2 (solute carrier family 45 member 2) on Chromosome 5. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Oculocutaneous albinism type 4 | TTTATTTCTTATTTTGATTCAAGATGTGAGAGGTATTACAAACACTCAATTATGAGTGATGCATTTACGTGTCCTATTCTTCCATCTGTAGATAAGTGAAAAGTCATTTAAGAAATTAGAGGTCTCTGTAGTAAATCCAAGTCACAGTAAAGCAAACAAAAATGCATATGTGTGTGATATAATGTGGAACTTTACCCCCTTGGAAGACTTTGCAGGCTGTAAGAATTTCATTTTTAATGTATTTCATACAGGCCGGAGCTAACAAGTTAATTTCTATTGAGCAAAAGTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTAT... | TTTATTTCTTATTTTGATTCAAGATGTGAGAGGTATTACAAACACTCAATTATGAGTGATGCATTTACGTGTCCTATTCTTCCATCTGTAGATAAGTGAAAAGTCATTTAAGAAATTAGAGGTCTCTGTAGTAAATCCAAGTCACAGTAAAGCAAACAAAAATGCATATGTGTGTGATATAATGTGGAACTTTACCCCCTTGGAAGACTTTGCAGGCTGTAAGAATTTCATTTTTAATGTATTTCATACAGGCCGGAGCTAACAAGTTAATTTCTATTGAGCAAAAGTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTAT... |
Task1_train_9071 | This sequence variant lies in SLC45A2 (solute carrier family 45 member 2) on Chromosome 5. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Oculocutaneous albinism type 4 | CCATGATTTATAGCTTTGCCAATTTCTAGAGTTTTAATACTGCCATCATGGCCAGTTTCAAGCCAGCAATATGATGTCAACAAGTTCACTGAATTCCTAAAATTTGACAATTGATTCTCAAGAAGCCAGCATGAGCCAGCTGTAAGCACACCACTGCTTTCAAGGCTCAGCTTCCACATCTGAAAAATGGGAATCACACCACTTCCACATGGCCATTGTCAGGATCGAGATAATGTAAGAGAAAATACCTAATACATGGTTATTATCATACATGGGGTATTTGAGAAATGTTTGTTCAGTATTTACTGAGCACCTACTAT... | CCATGATTTATAGCTTTGCCAATTTCTAGAGTTTTAATACTGCCATCATGGCCAGTTTCAAGCCAGCAATATGATGTCAACAAGTTCACTGAATTCCTAAAATTTGACAATTGATTCTCAAGAAGCCAGCATGAGCCAGCTGTAAGCACACCACTGCTTTCAAGGCTCAGCTTCCACATCTGAAAAATGGGAATCACACCACTTCCACATGGCCATTGTCAGGATCGAGATAATGTAAGAGAAAATACCTAATACATGGTTATTATCATACATGGGGTATTTGAGAAATGTTTGTTCAGTATTTACTGAGCACCTACTAT... |
Task1_train_9072 | A sequence alteration has been identified in SLC45A2 (solute carrier family 45 member 2) on Chromosome 5. Is it disease-inducing or harmless? | Pathogenic; SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR | GGCTTTAGTGGAAGTGCCTCATTGTCTGGGGAGCTGAAGGAGAGACTTTCTGGAATATTCCCTACCTGTGAAGAGGGCATGGTAGTGGAGGCCCTTCTCCTTGTCCTGATGGGAGCAGACATCAAATAAGTAGGCTTTGATGGGCCCATCAATGAAGTCGGCAGCAAAATCAAAGAGAACGACACCTATCATGGTGACACTTATGGCCCAAACCAGCTTCCTCCTTGGGTTAGCAATCAAAGCTAAAAGAAAAATAAACATTGGTCTCCTAAATCCTGTTTTAGAATCATCCGCGTTTTGTAATTTCCACCTAAACTTCT... | GGCTTTAGTGGAAGTGCCTCATTGTCTGGGGAGCTGAAGGAGAGACTTTCTGGAATATTCCCTACCTGTGAAGAGGGCATGGTAGTGGAGGCCCTTCTCCTTGTCCTGATGGGAGCAGACATCAAATAAGTAGGCTTTGATGGGCCCATCAATGAAGTCGGCAGCAAAATCAAAGAGAACGACACCTATCATGGTGACACTTATGGCCCAAACCAGCTTCCTCCTTGGGTTAGCAATCAAAGCTAAAAGAAAAATAAACATTGGTCTCCTAAATCCTGTTTTAGAATCATCCGCGTTTTGTAATTTCCACCTAAACTTCT... |
Task1_train_9073 | This variant impacts the gene SLC45A2 (solute carrier family 45 member 2) on Chromosome 5. Is the change likely to result in a pathogenic outcome? | Pathogenic; Oculocutaneous albinism type 4 | GGCTTTAGTGGAAGTGCCTCATTGTCTGGGGAGCTGAAGGAGAGACTTTCTGGAATATTCCCTACCTGTGAAGAGGGCATGGTAGTGGAGGCCCTTCTCCTTGTCCTGATGGGAGCAGACATCAAATAAGTAGGCTTTGATGGGCCCATCAATGAAGTCGGCAGCAAAATCAAAGAGAACGACACCTATCATGGTGACACTTATGGCCCAAACCAGCTTCCTCCTTGGGTTAGCAATCAAAGCTAAAAGAAAAATAAACATTGGTCTCCTAAATCCTGTTTTAGAATCATCCGCGTTTTGTAATTTCCACCTAAACTTCT... | GGCTTTAGTGGAAGTGCCTCATTGTCTGGGGAGCTGAAGGAGAGACTTTCTGGAATATTCCCTACCTGTGAAGAGGGCATGGTAGTGGAGGCCCTTCTCCTTGTCCTGATGGGAGCAGACATCAAATAAGTAGGCTTTGATGGGCCCATCAATGAAGTCGGCAGCAAAATCAAAGAGAACGACACCTATCATGGTGACACTTATGGCCCAAACCAGCTTCCTCCTTGGGTTAGCAATCAAAGCTAAAAGAAAAATAAACATTGGTCTCCTAAATCCTGTTTTAGAATCATCCGCGTTTTGTAATTTCCACCTAAACTTCT... |
Task1_train_9074 | Here is a genetic alteration in SLC45A2 (solute carrier family 45 member 2) on Chromosome 5. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Oculocutaneous albinism type 4 | AGGCCCTTCTCCTTGTCCTGATGGGAGCAGACATCAAATAAGTAGGCTTTGATGGGCCCATCAATGAAGTCGGCAGCAAAATCAAAGAGAACGACACCTATCATGGTGACACTTATGGCCCAAACCAGCTTCCTCCTTGGGTTAGCAATCAAAGCTAAAAGAAAAATAAACATTGGTCTCCTAAATCCTGTTTTAGAATCATCCGCGTTTTGTAATTTCCACCTAAACTTCTTGCCATAAAATCATCTTCCTTGCTTTTATTTTGCTTTTTTCCAAATAAAAATAGCTTTACATTTTTTTTCAGGTTTTAAAAATTATGC... | AGGCCCTTCTCCTTGTCCTGATGGGAGCAGACATCAAATAAGTAGGCTTTGATGGGCCCATCAATGAAGTCGGCAGCAAAATCAAAGAGAACGACACCTATCATGGTGACACTTATGGCCCAAACCAGCTTCCTCCTTGGGTTAGCAATCAAAGCTAAAAGAAAAATAAACATTGGTCTCCTAAATCCTGTTTTAGAATCATCCGCGTTTTGTAATTTCCACCTAAACTTCTTGCCATAAAATCATCTTCCTTGCTTTTATTTTGCTTTTTTCCAAATAAAAATAGCTTTACATTTTTTTTCAGGTTTTAAAAATTATGC... |
Task1_train_9075 | A variant has been detected on Chromosome 5 in AMACR, C1QTNF3-AMACR (alpha-methylacyl-CoA racemase| C1QTNF3-AMACR readthrough (NMD candidate)). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Congenital bile acid synthesis defect 4 | TCTCTTCAGCAATAACCCAGTCATTGGTCTCTGTACCTCCAGTCTTGTCTCCTCAGATCCATTCTCCATCCCACCTCCAAATGTCTGTGAAAATGCAAACACGCAGTGGTGGTGCTGGAGTGGGCTCTCTTACCCACTAGCTGTGAGATCTTGAGCAAATGGCAATGCTTCCGTTCCCTCCTCTTTAAAACAACAAGGTATTCCAAATGCAGTTTTGAGAATAAGAAGAAATCACACAGGGAATGTGCTCAGCAGAACATGAGGCAAGCACTCAGTGGATGACAGTGAACAAACAGAAGTGTTATGATATCAGAGCATCC... | TCTCTTCAGCAATAACCCAGTCATTGGTCTCTGTACCTCCAGTCTTGTCTCCTCAGATCCATTCTCCATCCCACCTCCAAATGTCTGTGAAAATGCAAACACGCAGTGGTGGTGCTGGAGTGGGCTCTCTTACCCACTAGCTGTGAGATCTTGAGCAAATGGCAATGCTTCCGTTCCCTCCTCTTTAAAACAACAAGGTATTCCAAATGCAGTTTTGAGAATAAGAAGAAATCACACAGGGAATGTGCTCAGCAGAACATGAGGCAAGCACTCAGTGGATGACAGTGAACAAACAGAAGTGTTATGATATCAGAGCATCC... |
Task1_train_9076 | Here is a mutation in DNAJC21, LOC129993792 (DnaJ heat shock protein family (Hsp40) member C21| ATAC-STARR-seq lymphoblastoid silent region 15969) on Chromosome 5. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Bone marrow failure syndrome 3 | TGCCTCAGCCTCCTGAGTAACTAGGACTACAGGCCCACGCCACCATGCCTGGCTTTTTTTTTTTTTTGTAGAGACAAGTTCTCGCTATGTTGCCCAGGCTCGTCTTGAACTCTTGGGCTGAAGGGATCCTCCTGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGTCAAGATGTTCCTTTAGACTGAAATTTATATCCAGCATAGTTACCTTTAATTATACAATGTTACAGGCAAAAATCCTTCTTACTTCAGAAGGTAAAAGAAGTAAGTGATTCCTACAGGCTGTATCCAAAACCAAAT... | TGCCTCAGCCTCCTGAGTAACTAGGACTACAGGCCCACGCCACCATGCCTGGCTTTTTTTTTTTTTTGTAGAGACAAGTTCTCGCTATGTTGCCCAGGCTCGTCTTGAACTCTTGGGCTGAAGGGATCCTCCTGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGTCAAGATGTTCCTTTAGACTGAAATTTATATCCAGCATAGTTACCTTTAATTATACAATGTTACAGGCAAAAATCCTTCTTACTTCAGAAGGTAAAAGAAGTAAGTGATTCCTACAGGCTGTATCCAAAACCAAAT... |
Task1_train_9077 | This mutation is located in gene DNAJC21, LOC129993792 (DnaJ heat shock protein family (Hsp40) member C21| ATAC-STARR-seq lymphoblastoid silent region 15969) on Chromosome 5. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Inherited bone marrow failure syndrome | TGCCTCAGCCTCCTGAGTAACTAGGACTACAGGCCCACGCCACCATGCCTGGCTTTTTTTTTTTTTTGTAGAGACAAGTTCTCGCTATGTTGCCCAGGCTCGTCTTGAACTCTTGGGCTGAAGGGATCCTCCTGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGTCAAGATGTTCCTTTAGACTGAAATTTATATCCAGCATAGTTACCTTTAATTATACAATGTTACAGGCAAAAATCCTTCTTACTTCAGAAGGTAAAAGAAGTAAGTGATTCCTACAGGCTGTATCCAAAACCAAAT... | TGCCTCAGCCTCCTGAGTAACTAGGACTACAGGCCCACGCCACCATGCCTGGCTTTTTTTTTTTTTTGTAGAGACAAGTTCTCGCTATGTTGCCCAGGCTCGTCTTGAACTCTTGGGCTGAAGGGATCCTCCTGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGTCAAGATGTTCCTTTAGACTGAAATTTATATCCAGCATAGTTACCTTTAATTATACAATGTTACAGGCAAAAATCCTTCTTACTTCAGAAGGTAAAAGAAGTAAGTGATTCCTACAGGCTGTATCCAAAACCAAAT... |
Task1_train_9078 | Here’s a variant in DNAJC21 (DnaJ heat shock protein family (Hsp40) member C21) located on Chromosome 5. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Inborn genetic diseases | CCCAAGCCAGGCTTGGGGTCAGCGGGAGGGGGAAAGCGCAAGGGGAGGAGATGTTGGGAAGGAAAAATGACCAGATTTGGTGATTAATTAGAAATCAGTGCTAGGAAGAAGCATGCAAATATGACTAAAGTATCAGTTAACTCCTTTGAAACCAAACCTGTTAGGAACTGAATGCAAATATCTTCTCTAAATATCATCATAATTTATGGCATCAGTGTGATGGTATCTGAGAATGGGCAGCAGGAAGCCCTGAAGAGCCATGTTCTAGGGCGGCAAAACTATTTGTAGATAAGACATTGCTGTCATGTTTTCTTGTAACT... | CCCAAGCCAGGCTTGGGGTCAGCGGGAGGGGGAAAGCGCAAGGGGAGGAGATGTTGGGAAGGAAAAATGACCAGATTTGGTGATTAATTAGAAATCAGTGCTAGGAAGAAGCATGCAAATATGACTAAAGTATCAGTTAACTCCTTTGAAACCAAACCTGTTAGGAACTGAATGCAAATATCTTCTCTAAATATCATCATAATTTATGGCATCAGTGTGATGGTATCTGAGAATGGGCAGCAGGAAGCCCTGAAGAGCCATGTTCTAGGGCGGCAAAACTATTTGTAGATAAGACATTGCTGTCATGTTTTCTTGTAACT... |
Task1_train_9079 | A mutation found in PRLR (prolactin receptor) on Chromosome 5 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Familial hyperprolactinemia | TCAGACATTTGTGTGCCAGGCCATCTAGAATCACCTTCTGGATACTATTCAGCAGATTTTTTTTTTTAAAGTCAACTCAGGATATTTAACGTAGTCTCTCTCCAAGCAATAATAATCATGAGTTTAATGGGCAAGTAGTATATACACATACAATAATAAACAGATAACTATAAAATGAAGGTTTGTGAAACTTCTAAACCCACAGTGCTTATGCATGCATCTGACACTGCGGCCCACTGGCAGAGGTGTGGTTGCTGGCCTGCTAACTTCCTCTATCACTTTCTAGAGTCTGGCAATAGTAAGTGGATTCTTGTCTTTTC... | TCAGACATTTGTGTGCCAGGCCATCTAGAATCACCTTCTGGATACTATTCAGCAGATTTTTTTTTTTAAAGTCAACTCAGGATATTTAACGTAGTCTCTCTCCAAGCAATAATAATCATGAGTTTAATGGGCAAGTAGTATATACACATACAATAATAAACAGATAACTATAAAATGAAGGTTTGTGAAACTTCTAAACCCACAGTGCTTATGCATGCATCTGACACTGCGGCCCACTGGCAGAGGTGTGGTTGCTGGCCTGCTAACTTCCTCTATCACTTTCTAGAGTCTGGCAATAGTAAGTGGATTCTTGTCTTTTC... |
Task1_train_9080 | The gene PRLR (prolactin receptor), on Chromosome 5, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Familial hyperprolactinemia | GCTGAACTGACGGGGACTGTGTGTGAGTGTGTAGAGTTAATTACTACAGAGCAGTGAGTCACACTCCATTTTTTTGCCTCCTGTACTTACCTCCAACAGATGAGCATCAAATCCTTTTATTTTTGGCCCAGGAACTGGCGGAAAGATGCAGGTCACCATGCTATAAAATAATTCATGAGATTGGCTAAATGACTCATTTCTGACTTTGTAATTTTTGAAAGGTTAGTATAATAGCCACTATAGGGACTGTGATAGAGATAGGACTTGGTTTGGCAGCTCCATGAAACAATCAATGATGAAAATAAAATTACAGAGGCCTA... | GCTGAACTGACGGGGACTGTGTGTGAGTGTGTAGAGTTAATTACTACAGAGCAGTGAGTCACACTCCATTTTTTTGCCTCCTGTACTTACCTCCAACAGATGAGCATCAAATCCTTTTATTTTTGGCCCAGGAACTGGCGGAAAGATGCAGGTCACCATGCTATAAAATAATTCATGAGATTGGCTAAATGACTCATTTCTGACTTTGTAATTTTTGAAAGGTTAGTATAATAGCCACTATAGGGACTGTGATAGAGATAGGACTTGGTTTGGCAGCTCCATGAAACAATCAATGATGAAAATAAAATTACAGAGGCCTA... |
Task1_train_9081 | With a mutation on Chromosome 5 in gene IL7R (interleukin 7 receptor), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Immunodeficiency 104 | GTCTTAGAGAAGTTGCCTACCTGACAGAGGACCACAGGTAGAGTATCCAGAATTTAAACGCACATCTGTCCAGCTCTAACACCACAGGTCTTAACCACTGTGTACATTAACTACTCTTAGCCAAGAATTTTTCAGCTCACGTCATGTAGAATATTCTTTTTGTAAAATGCCATCACATTTTATAAGTCATTGAAGGGAATTTTTCTTGGTTACAAAGCAACTCTGCCCCATAATATCTACTGAAAAGCCAGTGAGCTGCTTCCTAAAACACAGCCATTTTAGGTGCAGGAAACAGTGTATAAATGGCTCATTGTATATTG... | GTCTTAGAGAAGTTGCCTACCTGACAGAGGACCACAGGTAGAGTATCCAGAATTTAAACGCACATCTGTCCAGCTCTAACACCACAGGTCTTAACCACTGTGTACATTAACTACTCTTAGCCAAGAATTTTTCAGCTCACGTCATGTAGAATATTCTTTTTGTAAAATGCCATCACATTTTATAAGTCATTGAAGGGAATTTTTCTTGGTTACAAAGCAACTCTGCCCCATAATATCTACTGAAAAGCCAGTGAGCTGCTTCCTAAAACACAGCCATTTTAGGTGCAGGAAACAGTGTATAAATGGCTCATTGTATATTG... |
Task1_train_9082 | A variant found in Chromosome 5 affects IL7R (interleukin 7 receptor). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Immunodeficiency 104 | ATCGTACATGTGCATGTGTCTTTATAGCAGCATGATTTATACTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATAGTATTTCTAGCTCTGGATCCTTGAGGACTCGCCACACTGTCTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATTCCCTCCAGCACCTTTTGTTTCCTGACTTTTTAATGATCACCATTCTAACTGGTGTGAGATGGTATGTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCATTGATGGCTAATATCCAGAATCTAC... | ATCGTACATGTGCATGTGTCTTTATAGCAGCATGATTTATACTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATAGTATTTCTAGCTCTGGATCCTTGAGGACTCGCCACACTGTCTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATTCCCTCCAGCACCTTTTGTTTCCTGACTTTTTAATGATCACCATTCTAACTGGTGTGAGATGGTATGTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCATTGATGGCTAATATCCAGAATCTAC... |
Task1_train_9083 | This sequence variant lies in IL7R (interleukin 7 receptor) on Chromosome 5. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Immunodeficiency 104 | GGGCTATGGCAAGCACCCCTGGACAAGCAGGAAGAGAGGTGGTGGAGGCATGTCTCACGGTAGCATCTCCTTCTAGGTCCTAATGGGACACTTCATTAATGGAACTACCATTTAAGTGAGTTTAAACTGGATGCTTCTGATTGAGCCCCAGAGCCAGTGCTCCACTGCCACCACCTGCACCCTCACTTCCCCTTGTTTAAGCATCTTCCAACCCAGTAAGGCTGAAGAGGGAAGCATCCTGCCTTCCCACTTCTCTTAGCAGAGTAGATTGATATGATTATTCAGATTGTACAAGAATCTATTCCCTCTGAAGTATTGCT... | GGGCTATGGCAAGCACCCCTGGACAAGCAGGAAGAGAGGTGGTGGAGGCATGTCTCACGGTAGCATCTCCTTCTAGGTCCTAATGGGACACTTCATTAATGGAACTACCATTTAAGTGAGTTTAAACTGGATGCTTCTGATTGAGCCCCAGAGCCAGTGCTCCACTGCCACCACCTGCACCCTCACTTCCCCTTGTTTAAGCATCTTCCAACCCAGTAAGGCTGAAGAGGGAAGCATCCTGCCTTCCCACTTCTCTTAGCAGAGTAGATTGATATGATTATTCAGATTGTACAAGAATCTATTCCCTCTGAAGTATTGCT... |
Task1_train_9084 | Located on Chromosome 5, this mutation impacts LMBRD2 (LMBR1 domain containing 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; LMBRD2-related disorder | TCTGGGCATAGCTGCAGCTGCCCAGCTGTGGCTGTGGACCCAGGCATCCCTGCACTTTCGGGGACCCAGAAAGCCCCCATACCCCTACAGGCTTGGAAGTACCTGCTCCTGACACCTGCTCTGATTTTGGAGAAAAGTTGTGACTGAATCCAGGCACTGTTGTAACCTAGCTGGGTGTGCACACATGCTCAGGGCAGCACTGACACCAGCCCCCGGCTGCCTCAGCCCACTCTGGACTTTGGACATCAACAAGCACAGAAGGGAGGCTGACAGTGGGGCTGAGGGCAGCTCAGCATGGGCCTGCAGGCACTGGTTGGCAT... | TCTGGGCATAGCTGCAGCTGCCCAGCTGTGGCTGTGGACCCAGGCATCCCTGCACTTTCGGGGACCCAGAAAGCCCCCATACCCCTACAGGCTTGGAAGTACCTGCTCCTGACACCTGCTCTGATTTTGGAGAAAAGTTGTGACTGAATCCAGGCACTGTTGTAACCTAGCTGGGTGTGCACACATGCTCAGGGCAGCACTGACACCAGCCCCCGGCTGCCTCAGCCCACTCTGGACTTTGGACATCAACAAGCACAGAAGGGAGGCTGACAGTGGGGCTGAGGGCAGCTCAGCATGGGCCTGCAGGCACTGGTTGGCAT... |
Task1_train_9085 | The gene LMBRD2 (LMBR1 domain containing 2) is located on Chromosome 5, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Developmental delay with variable neurologic and brain abnormalities | TCTGGGCATAGCTGCAGCTGCCCAGCTGTGGCTGTGGACCCAGGCATCCCTGCACTTTCGGGGACCCAGAAAGCCCCCATACCCCTACAGGCTTGGAAGTACCTGCTCCTGACACCTGCTCTGATTTTGGAGAAAAGTTGTGACTGAATCCAGGCACTGTTGTAACCTAGCTGGGTGTGCACACATGCTCAGGGCAGCACTGACACCAGCCCCCGGCTGCCTCAGCCCACTCTGGACTTTGGACATCAACAAGCACAGAAGGGAGGCTGACAGTGGGGCTGAGGGCAGCTCAGCATGGGCCTGCAGGCACTGGTTGGCAT... | TCTGGGCATAGCTGCAGCTGCCCAGCTGTGGCTGTGGACCCAGGCATCCCTGCACTTTCGGGGACCCAGAAAGCCCCCATACCCCTACAGGCTTGGAAGTACCTGCTCCTGACACCTGCTCTGATTTTGGAGAAAAGTTGTGACTGAATCCAGGCACTGTTGTAACCTAGCTGGGTGTGCACACATGCTCAGGGCAGCACTGACACCAGCCCCCGGCTGCCTCAGCCCACTCTGGACTTTGGACATCAACAAGCACAGAAGGGAGGCTGACAGTGGGGCTGAGGGCAGCTCAGCATGGGCCTGCAGGCACTGGTTGGCAT... |
Task1_train_9086 | The following genetic variant occurs in SLC1A3 (solute carrier family 1 member 3) on Chromosome 5. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Episodic ataxia type 6 | AAGGAACCTACAAACGATGGTAAGGCCTCAAAGCCCTAACAGTAAGAAACTATTTTGTTAACACCCTTAGCTATGAAGGAGCAAAGGGAACCCAGAAAGAGCTATAGCCTTGGGAGGGAAGGGCCTCAGGAGCCCTAAATGGAGGAAGGGAGCTGCCACAAAATCTGTCAAAGAGAGCTCTGGGAGAATATAGACTCCCTCTGCCCTGTGATCTGTCAGTGCATGTCACTAGACAAACCTAATAGGAGTAGGAAGCCAGAGGGCAAGAGAACCCATGTGTTGTGGTCCATAGAGGCCTGGATCCCAGGGCATAGACAGAG... | AAGGAACCTACAAACGATGGTAAGGCCTCAAAGCCCTAACAGTAAGAAACTATTTTGTTAACACCCTTAGCTATGAAGGAGCAAAGGGAACCCAGAAAGAGCTATAGCCTTGGGAGGGAAGGGCCTCAGGAGCCCTAAATGGAGGAAGGGAGCTGCCACAAAATCTGTCAAAGAGAGCTCTGGGAGAATATAGACTCCCTCTGCCCTGTGATCTGTCAGTGCATGTCACTAGACAAACCTAATAGGAGTAGGAAGCCAGAGGGCAAGAGAACCCATGTGTTGTGGTCCATAGAGGCCTGGATCCCAGGGCATAGACAGAG... |
Task1_train_9087 | Given a variant located on Chromosome 5 and affecting SLC1A3 (solute carrier family 1 member 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Episodic ataxia type 6 | AGACAGACAATAAACAAACAAATCAATCAACCATATGCTTTAGTCACAGGTGCTGTGGAAAAATAAAATAAAATTGCAGGTAACTAGGAGAAGGCACAAAGTTTGCCTTGGATGGTGCAGAAAGGCCTCTGAGGAGGTGACGTACTTTGTTAAGACCTGAATGAACAGAGGAAGCAGTCATACCAAAGTGCCAGAAGAAGGGTGTTTCCAGTAAAGGGAAAAGCAAACGGAGAGGCCCCCTAGGCCATCAGGAAAACTGAGGGCTCCTCATCTGTTTCAGCCCTAAGAAAGAAATGTAAATGGCAGTTCTGCTGCAATAT... | AGACAGACAATAAACAAACAAATCAATCAACCATATGCTTTAGTCACAGGTGCTGTGGAAAAATAAAATAAAATTGCAGGTAACTAGGAGAAGGCACAAAGTTTGCCTTGGATGGTGCAGAAAGGCCTCTGAGGAGGTGACGTACTTTGTTAAGACCTGAATGAACAGAGGAAGCAGTCATACCAAAGTGCCAGAAGAAGGGTGTTTCCAGTAAAGGGAAAAGCAAACGGAGAGGCCCCCTAGGCCATCAGGAAAACTGAGGGCTCCTCATCTGTTTCAGCCCTAAGAAAGAAATGTAAATGGCAGTTCTGCTGCAATAT... |
Task1_train_9088 | A variant was discovered in gene NIPBL (NIPBL cohesin loading factor), Chromosome 5. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Cornelia de Lange syndrome 1 | CTTTAGTAATTGTTAAATAATCAAATTAATAATTTCAAAGAGTAGAAATTAGTAATTTCACAGTGTAGCAAATGGACAAATATAGAATAGCTAGTAGTGATTATAGCTTTCCTATATTATTTCCTGTGCCTTTTCCTTTCAGTGGGCTTCTGCTAGAAATTTTGTCAGTCATTCACCAAAGGAAAGTAATGTTTTTTCCCTTAGCTGGCAATTAGTAAAGAATGTACATATAAAGGTCTTTAAACTGTAAAGAAAAAAGAGGAAATGATTACCACAAAGACAAGATAGTTAATACCCCTAGAAGGAACCAGAATGCTAGC... | CTTTAGTAATTGTTAAATAATCAAATTAATAATTTCAAAGAGTAGAAATTAGTAATTTCACAGTGTAGCAAATGGACAAATATAGAATAGCTAGTAGTGATTATAGCTTTCCTATATTATTTCCTGTGCCTTTTCCTTTCAGTGGGCTTCTGCTAGAAATTTTGTCAGTCATTCACCAAAGGAAAGTAATGTTTTTTCCCTTAGCTGGCAATTAGTAAAGAATGTACATATAAAGGTCTTTAAACTGTAAAGAAAAAAGAGGAAATGATTACCACAAAGACAAGATAGTTAATACCCCTAGAAGGAACCAGAATGCTAGC... |
Task1_train_9089 | The gene NIPBL (NIPBL cohesin loading factor) on Chromosome 5 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Cornelia de Lange syndrome 1 | ATAAAAGCATTCCACTTAGTTACTGGACACAGCATCATTATAATGAAATCAATTGCATTTTTATATACAGAAATAAGCAGTTATAATCTTTTTTGATAGCATTAACAGTTTAAAAGAGCACCACAAGATACCTAGGAATAAATTTAATGAAAGATGTAAAAGACTTTTGTGGAGCAAATTACAAAACTTTTGAAAGAGATAGAAGAAAAGAAAATGAAGAGTTATGCCATCTTCATGGATAGGAAGACTCAATAGGGTAAAGATTATTATTACACCCGTATCTATAAATTCAGTATAACACTGATAAAAAATCTCAAGGA... | ATAAAAGCATTCCACTTAGTTACTGGACACAGCATCATTATAATGAAATCAATTGCATTTTTATATACAGAAATAAGCAGTTATAATCTTTTTTGATAGCATTAACAGTTTAAAAGAGCACCACAAGATACCTAGGAATAAATTTAATGAAAGATGTAAAAGACTTTTGTGGAGCAAATTACAAAACTTTTGAAAGAGATAGAAGAAAAGAAAATGAAGAGTTATGCCATCTTCATGGATAGGAAGACTCAATAGGGTAAAGATTATTATTACACCCGTATCTATAAATTCAGTATAACACTGATAAAAAATCTCAAGGA... |
Task1_train_9090 | Here is a mutation in NIPBL (NIPBL cohesin loading factor) on Chromosome 5. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; NIPBL-related disorder | ATAAAAGCATTCCACTTAGTTACTGGACACAGCATCATTATAATGAAATCAATTGCATTTTTATATACAGAAATAAGCAGTTATAATCTTTTTTGATAGCATTAACAGTTTAAAAGAGCACCACAAGATACCTAGGAATAAATTTAATGAAAGATGTAAAAGACTTTTGTGGAGCAAATTACAAAACTTTTGAAAGAGATAGAAGAAAAGAAAATGAAGAGTTATGCCATCTTCATGGATAGGAAGACTCAATAGGGTAAAGATTATTATTACACCCGTATCTATAAATTCAGTATAACACTGATAAAAAATCTCAAGGA... | ATAAAAGCATTCCACTTAGTTACTGGACACAGCATCATTATAATGAAATCAATTGCATTTTTATATACAGAAATAAGCAGTTATAATCTTTTTTGATAGCATTAACAGTTTAAAAGAGCACCACAAGATACCTAGGAATAAATTTAATGAAAGATGTAAAAGACTTTTGTGGAGCAAATTACAAAACTTTTGAAAGAGATAGAAGAAAAGAAAATGAAGAGTTATGCCATCTTCATGGATAGGAAGACTCAATAGGGTAAAGATTATTATTACACCCGTATCTATAAATTCAGTATAACACTGATAAAAAATCTCAAGGA... |
Task1_train_9091 | This variant lies on Chromosome 5 and affects the gene NIPBL (NIPBL cohesin loading factor). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | TTGAAATTAACTTACTGTATTTGCTAAATTTTCATTTTAATGTCTTTACGTAAATTGGATTGAGGTTAATAATATATAAACTCTTGAGTATTTTGTAATCCTTTAAAAATCAGCCCTCTAAGCTATGTTAATGTTTTTCTGAAGACTGTGCATAAAAGAGTCAGCCATAGATATCTTAAATCTTCAGATGCCTGAGACCTATGTCGTTGTGTATCTTAAGTATGATTGATTAGTCTACCATTTTAATTATTTTTACAAAGCATATTTCCTCAAAAATATAGAAATCTTAGGTTATATTTTTTGAATTTCTAGAGTCTTAT... | TTGAAATTAACTTACTGTATTTGCTAAATTTTCATTTTAATGTCTTTACGTAAATTGGATTGAGGTTAATAATATATAAACTCTTGAGTATTTTGTAATCCTTTAAAAATCAGCCCTCTAAGCTATGTTAATGTTTTTCTGAAGACTGTGCATAAAAGAGTCAGCCATAGATATCTTAAATCTTCAGATGCCTGAGACCTATGTCGTTGTGTATCTTAAGTATGATTGATTAGTCTACCATTTTAATTATTTTTACAAAGCATATTTCCTCAAAAATATAGAAATCTTAGGTTATATTTTTTGAATTTCTAGAGTCTTAT... |
Task1_train_9092 | With a mutation on Chromosome 5 in gene NIPBL (NIPBL cohesin loading factor), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Cornelia de Lange syndrome 1 | AAAATACTTAGTTTCTATGTGCAGTGATTATCGTTTAAGTCTTTAACGTTCAGGAAAAAAACTAGAAACAAAAATGGAATTATTTTAAGTTGTCAGTCCTGCATTTCAGTACTTCTTTTTGTTCGTTTTAGTTGCTAGGAAAATGAAGAAAAAAGAAAAACAGAAGAAAAGGAAAGCATATGAACCAAAACTAACACCTGAAGGTAACACGTTAGTTTATTTAATTTGTCTTTATTCATATTCTTCAGCTTCACATGTCTACTTGTAATGTGAGAATAATGAATATATTTTTCTCTCTTGCAGAAATGATGGACTCTTCA... | AAAATACTTAGTTTCTATGTGCAGTGATTATCGTTTAAGTCTTTAACGTTCAGGAAAAAAACTAGAAACAAAAATGGAATTATTTTAAGTTGTCAGTCCTGCATTTCAGTACTTCTTTTTGTTCGTTTTAGTTGCTAGGAAAATGAAGAAAAAAGAAAAACAGAAGAAAAGGAAAGCATATGAACCAAAACTAACACCTGAAGGTAACACGTTAGTTTATTTAATTTGTCTTTATTCATATTCTTCAGCTTCACATGTCTACTTGTAATGTGAGAATAATGAATATATTTTTCTCTCTTGCAGAAATGATGGACTCTTCA... |
Task1_train_9093 | The gene NIPBL (NIPBL cohesin loading factor) on Chromosome 5 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Cornelia de Lange syndrome 1 | AGATCCTCATGGAGGTTAGTTCGTATAATATCAAAATTATTGTAAATTTTTGCCATGTTAGATGAGTCAAAATAGGACTTAAAATGGCACCAAAATTTTTGAATCATATAACTTGTAATAAACACTGATTTTGATTATGGATTTGACTAGAATATAGTACTTGTTCAATTATAATTTCTTTAGGAACATTTATATATAATAGAAGTTATTTCTACTTGTCAGGGAAAATCTCAGAAAATACTACCTTCTGGTTTCATTTATCACTTCGCCCTAATTTTACCCAAAATAGCAGTTGTCTACAAAATGGATTGATTCAAGAT... | AGATCCTCATGGAGGTTAGTTCGTATAATATCAAAATTATTGTAAATTTTTGCCATGTTAGATGAGTCAAAATAGGACTTAAAATGGCACCAAAATTTTTGAATCATATAACTTGTAATAAACACTGATTTTGATTATGGATTTGACTAGAATATAGTACTTGTTCAATTATAATTTCTTTAGGAACATTTATATATAATAGAAGTTATTTCTACTTGTCAGGGAAAATCTCAGAAAATACTACCTTCTGGTTTCATTTATCACTTCGCCCTAATTTTACCCAAAATAGCAGTTGTCTACAAAATGGATTGATTCAAGAT... |
Task1_train_9094 | A genetic alteration is present in NIPBL (NIPBL cohesin loading factor) on Chromosome 5. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Cornelia de Lange syndrome 1 | TATTGGAACATAGTAAAATAATAAGTTTTCTAACATTTAGGATATTCTATATTTTCTGGCTTTCTTAAAATCTGTTTTTATCACATGGAAGTTGTTTTAAAGTAAACTTTAATATTTGTATTCCTGTAATGTGAGCACTCTAACTTTATTAACTTGGAAATCTTGTTGCTAATTTCATCAAGCTCAAGTCTGTCTAATTTCTTTCCAGTTTTCTCGTAAATTCTATATAGCCCAGTGGTTTCGAGACACAACTCTGGAAACAGAAAAAGCAATGAAATCACAAAAAGATGAAGAATCATCTGAAGGAACACATCATGCAA... | TATTGGAACATAGTAAAATAATAAGTTTTCTAACATTTAGGATATTCTATATTTTCTGGCTTTCTTAAAATCTGTTTTTATCACATGGAAGTTGTTTTAAAGTAAACTTTAATATTTGTATTCCTGTAATGTGAGCACTCTAACTTTATTAACTTGGAAATCTTGTTGCTAATTTCATCAAGCTCAAGTCTGTCTAATTTCTTTCCAGTTTTCTCGTAAATTCTATATAGCCCAGTGGTTTCGAGACACAACTCTGGAAACAGAAAAAGCAATGAAATCACAAAAAGATGAAGAATCATCTGAAGGAACACATCATGCAA... |
Task1_train_9095 | The variant affects gene NIPBL (NIPBL cohesin loading factor), which is on Chromosome 5. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Cornelia de Lange syndrome 1 | GTTTTCTAACATTTAGGATATTCTATATTTTCTGGCTTTCTTAAAATCTGTTTTTATCACATGGAAGTTGTTTTAAAGTAAACTTTAATATTTGTATTCCTGTAATGTGAGCACTCTAACTTTATTAACTTGGAAATCTTGTTGCTAATTTCATCAAGCTCAAGTCTGTCTAATTTCTTTCCAGTTTTCTCGTAAATTCTATATAGCCCAGTGGTTTCGAGACACAACTCTGGAAACAGAAAAAGCAATGAAATCACAAAAAGATGAAGAATCATCTGAAGGAACACATCATGCAAAGGAAATTGAGACAACTGGCCAAA... | GTTTTCTAACATTTAGGATATTCTATATTTTCTGGCTTTCTTAAAATCTGTTTTTATCACATGGAAGTTGTTTTAAAGTAAACTTTAATATTTGTATTCCTGTAATGTGAGCACTCTAACTTTATTAACTTGGAAATCTTGTTGCTAATTTCATCAAGCTCAAGTCTGTCTAATTTCTTTCCAGTTTTCTCGTAAATTCTATATAGCCCAGTGGTTTCGAGACACAACTCTGGAAACAGAAAAAGCAATGAAATCACAAAAAGATGAAGAATCATCTGAAGGAACACATCATGCAAAGGAAATTGAGACAACTGGCCAAA... |
Task1_train_9096 | Assess the clinical impact of this variant on gene NIPBL (NIPBL cohesin loading factor), found on Chromosome 5. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Cornelia de Lange syndrome 1 | ATGGAAGTTGTTTTAAAGTAAACTTTAATATTTGTATTCCTGTAATGTGAGCACTCTAACTTTATTAACTTGGAAATCTTGTTGCTAATTTCATCAAGCTCAAGTCTGTCTAATTTCTTTCCAGTTTTCTCGTAAATTCTATATAGCCCAGTGGTTTCGAGACACAACTCTGGAAACAGAAAAAGCAATGAAATCACAAAAAGATGAAGAATCATCTGAAGGAACACATCATGCAAAGGAAATTGAGACAACTGGCCAAATTATGCATCGAGCTGAAAACCGAAAAAAGTTTCTTAGAAGCATTATCAAAACCACACCTT... | ATGGAAGTTGTTTTAAAGTAAACTTTAATATTTGTATTCCTGTAATGTGAGCACTCTAACTTTATTAACTTGGAAATCTTGTTGCTAATTTCATCAAGCTCAAGTCTGTCTAATTTCTTTCCAGTTTTCTCGTAAATTCTATATAGCCCAGTGGTTTCGAGACACAACTCTGGAAACAGAAAAAGCAATGAAATCACAAAAAGATGAAGAATCATCTGAAGGAACACATCATGCAAAGGAAATTGAGACAACTGGCCAAATTATGCATCGAGCTGAAAACCGAAAAAAGTTTCTTAGAAGCATTATCAAAACCACACCTT... |
Task1_train_9097 | Here is a genetic alteration in NIPBL (NIPBL cohesin loading factor) on Chromosome 5. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Cornelia de Lange syndrome 1 | TAGATTCAGGTTAAACATTTTTATGAAGTCTACTTTTAAGTGATACTTCATGTGCTGTTTAAGTGCCAGACACTATTCTAAAGCTTATGTTTGTTTTCTCATTTAATTTTGACAAGCGTATACTTCTAGTCTTGTGTCCAGGGCTTAACTATAAAATATGTTTCTATGTCTTAGATATCATACTTTAAAAGTAAAGACAACATAAAAAAATAACACATTTATAGTAGCAGAAAGCATGTAAAAAGCAAATATGTCAAGTGTGTTTATCATGTTAACAAATAGTGAATATACTGCGTATGGATACTTATTTTCTAATTTCA... | TAGATTCAGGTTAAACATTTTTATGAAGTCTACTTTTAAGTGATACTTCATGTGCTGTTTAAGTGCCAGACACTATTCTAAAGCTTATGTTTGTTTTCTCATTTAATTTTGACAAGCGTATACTTCTAGTCTTGTGTCCAGGGCTTAACTATAAAATATGTTTCTATGTCTTAGATATCATACTTTAAAAGTAAAGACAACATAAAAAAATAACACATTTATAGTAGCAGAAAGCATGTAAAAAGCAAATATGTCAAGTGTGTTTATCATGTTAACAAATAGTGAATATACTGCGTATGGATACTTATTTTCTAATTTCA... |
Task1_train_9098 | The gene NIPBL (NIPBL cohesin loading factor), on Chromosome 5, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | AATCGCTTGAACCTTGGAGGCGGAGGTTGCAGTGAGCCGAGACTGTGCTACTGCACTTCCGCCTGGGTGACAGAACGAGGCTCTGTGTCAAAAAAAAAAGTCCAAAATCTATGCCGGTAATCCATTACTAACAATGAGGATTAGTAGCTTAAAAACTAGATTAAGGCTGGACATGATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAAGTGTGGAGTTTAAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGGCTAG... | AATCGCTTGAACCTTGGAGGCGGAGGTTGCAGTGAGCCGAGACTGTGCTACTGCACTTCCGCCTGGGTGACAGAACGAGGCTCTGTGTCAAAAAAAAAAGTCCAAAATCTATGCCGGTAATCCATTACTAACAATGAGGATTAGTAGCTTAAAAACTAGATTAAGGCTGGACATGATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAAGTGTGGAGTTTAAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGGCTAG... |
Task1_train_9099 | The gene NIPBL (NIPBL cohesin loading factor) on Chromosome 5 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Cornelia de Lange syndrome 1 | GCTACTGCACTTCCGCCTGGGTGACAGAACGAGGCTCTGTGTCAAAAAAAAAAGTCCAAAATCTATGCCGGTAATCCATTACTAACAATGAGGATTAGTAGCTTAAAAACTAGATTAAGGCTGGACATGATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAAGTGTGGAGTTTAAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGGCTAGTTGTCGATCCATATTCCCGACATGCTGGTGCTTCTCCTTCCATGCC... | GCTACTGCACTTCCGCCTGGGTGACAGAACGAGGCTCTGTGTCAAAAAAAAAAGTCCAAAATCTATGCCGGTAATCCATTACTAACAATGAGGATTAGTAGCTTAAAAACTAGATTAAGGCTGGACATGATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAAGTGTGGAGTTTAAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGGCTAGTTGTCGATCCATATTCCCGACATGCTGGTGCTTCTCCTTCCATGCC... |
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