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_12100 | Given a variant located on Chromosome 7 and affecting CFTR (CF transmembrane conductance regulator), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Cystic fibrosis | GGAGGTCCCTTAGTAGAAACACTCTTGGTCCAAGCATTTTAAAGCTGTCAAAGAGATGTAAATATAGATAATGTATGTCAAGGAGAGAGCTTTGTGGTTAAACTGTAACTTTCAGTTTAAACAATTATTGGTGACTCTGATGTCAAATGTTTCTCAAGCTTTATCTGAACAAAATTCTTCTCACTTTGTTGCCAAAGTCGTTAACAAGAAATCACATTGACTCATTGATGTTTTGGCTCCTTTCCCTTACTTTCTGTTGCTTTCCAAAAGCTGAGACAGGAAACTAACCCTAACTGAGCACCTGCAATTGCCTGGTAGTA... | GGAGGTCCCTTAGTAGAAACACTCTTGGTCCAAGCATTTTAAAGCTGTCAAAGAGATGTAAATATAGATAATGTATGTCAAGGAGAGAGCTTTGTGGTTAAACTGTAACTTTCAGTTTAAACAATTATTGGTGACTCTGATGTCAAATGTTTCTCAAGCTTTATCTGAACAAAATTCTTCTCACTTTGTTGCCAAAGTCGTTAACAAGAAATCACATTGACTCATTGATGTTTTGGCTCCTTTCCCTTACTTTCTGTTGCTTTCCAAAAGCTGAGACAGGAAACTAACCCTAACTGAGCACCTGCAATTGCCTGGTAGTA... |
Task1_train_12101 | A variant on Chromosome 7 in gene CFTR (CF transmembrane conductance regulator) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Cystic fibrosis | GAGGTCCCTTAGTAGAAACACTCTTGGTCCAAGCATTTTAAAGCTGTCAAAGAGATGTAAATATAGATAATGTATGTCAAGGAGAGAGCTTTGTGGTTAAACTGTAACTTTCAGTTTAAACAATTATTGGTGACTCTGATGTCAAATGTTTCTCAAGCTTTATCTGAACAAAATTCTTCTCACTTTGTTGCCAAAGTCGTTAACAAGAAATCACATTGACTCATTGATGTTTTGGCTCCTTTCCCTTACTTTCTGTTGCTTTCCAAAAGCTGAGACAGGAAACTAACCCTAACTGAGCACCTGCAATTGCCTGGTAGTAT... | GAGGTCCCTTAGTAGAAACACTCTTGGTCCAAGCATTTTAAAGCTGTCAAAGAGATGTAAATATAGATAATGTATGTCAAGGAGAGAGCTTTGTGGTTAAACTGTAACTTTCAGTTTAAACAATTATTGGTGACTCTGATGTCAAATGTTTCTCAAGCTTTATCTGAACAAAATTCTTCTCACTTTGTTGCCAAAGTCGTTAACAAGAAATCACATTGACTCATTGATGTTTTGGCTCCTTTCCCTTACTTTCTGTTGCTTTCCAAAAGCTGAGACAGGAAACTAACCCTAACTGAGCACCTGCAATTGCCTGGTAGTAT... |
Task1_train_12102 | A mutation found in CFTR (CF transmembrane conductance regulator) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Cystic fibrosis | GGAACTGTATAATTTTTGCCATTGTATTTTGAGCACATAGCATGGTACTTGCCTCTAAATAGATACTATTGTTAAAATATTTTTTAAGGTAATATTTTAAAGTGTATGCTATGGTACAGTTCAGTTTGTGACTTTTGCTAGTTTATGCCACTTACAGTTAGCAAAATCACTTCAGCAGTTCTTGGAATGTTGTGAAAAGTGATAAAAATCTTCTGCAACTTATTCCTTTATTCCTCATTTAAAATAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAAT... | GGAACTGTATAATTTTTGCCATTGTATTTTGAGCACATAGCATGGTACTTGCCTCTAAATAGATACTATTGTTAAAATATTTTTTAAGGTAATATTTTAAAGTGTATGCTATGGTACAGTTCAGTTTGTGACTTTTGCTAGTTTATGCCACTTACAGTTAGCAAAATCACTTCAGCAGTTCTTGGAATGTTGTGAAAAGTGATAAAAATCTTCTGCAACTTATTCCTTTATTCCTCATTTAAAATAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAAT... |
Task1_train_12103 | The gene CFTR (CF transmembrane conductance regulator), on Chromosome 7, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Cystic fibrosis | ATTTTGAGCACATAGCATGGTACTTGCCTCTAAATAGATACTATTGTTAAAATATTTTTTAAGGTAATATTTTAAAGTGTATGCTATGGTACAGTTCAGTTTGTGACTTTTGCTAGTTTATGCCACTTACAGTTAGCAAAATCACTTCAGCAGTTCTTGGAATGTTGTGAAAAGTGATAAAAATCTTCTGCAACTTATTCCTTTATTCCTCATTTAAAATAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGC... | ATTTTGAGCACATAGCATGGTACTTGCCTCTAAATAGATACTATTGTTAAAATATTTTTTAAGGTAATATTTTAAAGTGTATGCTATGGTACAGTTCAGTTTGTGACTTTTGCTAGTTTATGCCACTTACAGTTAGCAAAATCACTTCAGCAGTTCTTGGAATGTTGTGAAAAGTGATAAAAATCTTCTGCAACTTATTCCTTTATTCCTCATTTAAAATAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGC... |
Task1_train_12104 | This mutation is located in gene CFTR (CF transmembrane conductance regulator) on Chromosome 7. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Cystic fibrosis | ATAGCATGGTACTTGCCTCTAAATAGATACTATTGTTAAAATATTTTTTAAGGTAATATTTTAAAGTGTATGCTATGGTACAGTTCAGTTTGTGACTTTTGCTAGTTTATGCCACTTACAGTTAGCAAAATCACTTCAGCAGTTCTTGGAATGTTGTGAAAAGTGATAAAAATCTTCTGCAACTTATTCCTTTATTCCTCATTTAAAATAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAAC... | ATAGCATGGTACTTGCCTCTAAATAGATACTATTGTTAAAATATTTTTTAAGGTAATATTTTAAAGTGTATGCTATGGTACAGTTCAGTTTGTGACTTTTGCTAGTTTATGCCACTTACAGTTAGCAAAATCACTTCAGCAGTTCTTGGAATGTTGTGAAAAGTGATAAAAATCTTCTGCAACTTATTCCTTTATTCCTCATTTAAAATAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAAC... |
Task1_train_12105 | A genomic change on Chromosome 7 affects CFTR (CF transmembrane conductance regulator). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Cystic fibrosis | TTTTAAGGTAATATTTTAAAGTGTATGCTATGGTACAGTTCAGTTTGTGACTTTTGCTAGTTTATGCCACTTACAGTTAGCAAAATCACTTCAGCAGTTCTTGGAATGTTGTGAAAAGTGATAAAAATCTTCTGCAACTTATTCCTTTATTCCTCATTTAAAATAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAG... | TTTTAAGGTAATATTTTAAAGTGTATGCTATGGTACAGTTCAGTTTGTGACTTTTGCTAGTTTATGCCACTTACAGTTAGCAAAATCACTTCAGCAGTTCTTGGAATGTTGTGAAAAGTGATAAAAATCTTCTGCAACTTATTCCTTTATTCCTCATTTAAAATAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAG... |
Task1_train_12106 | Chromosome 7 houses a mutation in gene CFTR (CF transmembrane conductance regulator). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Cystic fibrosis | TTTTAAGGTAATATTTTAAAGTGTATGCTATGGTACAGTTCAGTTTGTGACTTTTGCTAGTTTATGCCACTTACAGTTAGCAAAATCACTTCAGCAGTTCTTGGAATGTTGTGAAAAGTGATAAAAATCTTCTGCAACTTATTCCTTTATTCCTCATTTAAAATAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAG... | TTTTAAGGTAATATTTTAAAGTGTATGCTATGGTACAGTTCAGTTTGTGACTTTTGCTAGTTTATGCCACTTACAGTTAGCAAAATCACTTCAGCAGTTCTTGGAATGTTGTGAAAAGTGATAAAAATCTTCTGCAACTTATTCCTTTATTCCTCATTTAAAATAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAG... |
Task1_train_12107 | A variant found in Chromosome 7 affects CFTR (CF transmembrane conductance regulator). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Cystic fibrosis | TTATGCCACTTACAGTTAGCAAAATCACTTCAGCAGTTCTTGGAATGTTGTGAAAAGTGATAAAAATCTTCTGCAACTTATTCCTTTATTCCTCATTTAAAATAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAGGAAATGTAATTTAATTTCCATTTTCTTTTTAGAGCAGTATACAAAGATGCTGATTTGTATT... | TTATGCCACTTACAGTTAGCAAAATCACTTCAGCAGTTCTTGGAATGTTGTGAAAAGTGATAAAAATCTTCTGCAACTTATTCCTTTATTCCTCATTTAAAATAATCTACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGATGTGGTGACCATATTGTAATGCATGTAGTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAGGAAATGTAATTTAATTTCCATTTTCTTTTTAGAGCAGTATACAAAGATGCTGATTTGTATT... |
Task1_train_12108 | This sequence change occurs on Chromosome 7, altering CFTR (CF transmembrane conductance regulator). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Cystic fibrosis | ACTTAAGTACTGTTAAATATTTAAGGCAAATTCAGGTATAAAATAAGACTTGTTGATATCTTATTCCAAGCATATTTGTTTCTCTCCTATTTATTTTTATTCTGTGTTCATTTCCAAAATTGTTTTACTCACAACTGTTTGTTTTTTCTGTTTCATTCTGTGGTAAAGGTATCATTTGGCTAATTGTATAATTTCAGTGTCATTTCTAATATTCCAATTGTGATAGTATCAACACAAGATTAAATTTCTCTACATGGTTTATGAGAATGGAATGCCAAATTGAAATAGAACAGAGCACAGATGATCTAAATATAAAAAGA... | ACTTAAGTACTGTTAAATATTTAAGGCAAATTCAGGTATAAAATAAGACTTGTTGATATCTTATTCCAAGCATATTTGTTTCTCTCCTATTTATTTTTATTCTGTGTTCATTTCCAAAATTGTTTTACTCACAACTGTTTGTTTTTTCTGTTTCATTCTGTGGTAAAGGTATCATTTGGCTAATTGTATAATTTCAGTGTCATTTCTAATATTCCAATTGTGATAGTATCAACACAAGATTAAATTTCTCTACATGGTTTATGAGAATGGAATGCCAAATTGAAATAGAACAGAGCACAGATGATCTAAATATAAAAAGA... |
Task1_train_12109 | Here is a mutation in CFTR (CF transmembrane conductance regulator) on Chromosome 7. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Cystic fibrosis | TCTCTCCTATTTATTTTTATTCTGTGTTCATTTCCAAAATTGTTTTACTCACAACTGTTTGTTTTTTCTGTTTCATTCTGTGGTAAAGGTATCATTTGGCTAATTGTATAATTTCAGTGTCATTTCTAATATTCCAATTGTGATAGTATCAACACAAGATTAAATTTCTCTACATGGTTTATGAGAATGGAATGCCAAATTGAAATAGAACAGAGCACAGATGATCTAAATATAAAAAGAACTACAAAAATCACAGTTGTTTAAAAAGGTTTTTTGTTTGTTTATATATGGTGCAGAACATTTGTTCCTTAGCCAAATGT... | TCTCTCCTATTTATTTTTATTCTGTGTTCATTTCCAAAATTGTTTTACTCACAACTGTTTGTTTTTTCTGTTTCATTCTGTGGTAAAGGTATCATTTGGCTAATTGTATAATTTCAGTGTCATTTCTAATATTCCAATTGTGATAGTATCAACACAAGATTAAATTTCTCTACATGGTTTATGAGAATGGAATGCCAAATTGAAATAGAACAGAGCACAGATGATCTAAATATAAAAAGAACTACAAAAATCACAGTTGTTTAAAAAGGTTTTTTGTTTGTTTATATATGGTGCAGAACATTTGTTCCTTAGCCAAATGT... |
Task1_train_12110 | This variant impacts the gene CFTR (CF transmembrane conductance regulator) on Chromosome 7. Is the change likely to result in a pathogenic outcome? | Pathogenic; not specified | TTCTGTTTCATTCTGTGGTAAAGGTATCATTTGGCTAATTGTATAATTTCAGTGTCATTTCTAATATTCCAATTGTGATAGTATCAACACAAGATTAAATTTCTCTACATGGTTTATGAGAATGGAATGCCAAATTGAAATAGAACAGAGCACAGATGATCTAAATATAAAAAGAACTACAAAAATCACAGTTGTTTAAAAAGGTTTTTTGTTTGTTTATATATGGTGCAGAACATTTGTTCCTTAGCCAAATGTTTCCACCTTGAGAAAGCTATAGAGATTCTATGTAGTCCTAGTACCAATAATATGTTTTAACCTGA... | TTCTGTTTCATTCTGTGGTAAAGGTATCATTTGGCTAATTGTATAATTTCAGTGTCATTTCTAATATTCCAATTGTGATAGTATCAACACAAGATTAAATTTCTCTACATGGTTTATGAGAATGGAATGCCAAATTGAAATAGAACAGAGCACAGATGATCTAAATATAAAAAGAACTACAAAAATCACAGTTGTTTAAAAAGGTTTTTTGTTTGTTTATATATGGTGCAGAACATTTGTTCCTTAGCCAAATGTTTCCACCTTGAGAAAGCTATAGAGATTCTATGTAGTCCTAGTACCAATAATATGTTTTAACCTGA... |
Task1_train_12111 | The following genetic variant occurs in CFTR (CF transmembrane conductance regulator) on Chromosome 7. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Cystic fibrosis | ATATTCCAATTGTGATAGTATCAACACAAGATTAAATTTCTCTACATGGTTTATGAGAATGGAATGCCAAATTGAAATAGAACAGAGCACAGATGATCTAAATATAAAAAGAACTACAAAAATCACAGTTGTTTAAAAAGGTTTTTTGTTTGTTTATATATGGTGCAGAACATTTGTTCCTTAGCCAAATGTTTCCACCTTGAGAAAGCTATAGAGATTCTATGTAGTCCTAGTACCAATAATATGTTTTAACCTGAATGTACCTTATCTTTATTCATAAACTGTGACTTTTTACACTGCTGAAACTTTTTTTTTTAAGA... | ATATTCCAATTGTGATAGTATCAACACAAGATTAAATTTCTCTACATGGTTTATGAGAATGGAATGCCAAATTGAAATAGAACAGAGCACAGATGATCTAAATATAAAAAGAACTACAAAAATCACAGTTGTTTAAAAAGGTTTTTTGTTTGTTTATATATGGTGCAGAACATTTGTTCCTTAGCCAAATGTTTCCACCTTGAGAAAGCTATAGAGATTCTATGTAGTCCTAGTACCAATAATATGTTTTAACCTGAATGTACCTTATCTTTATTCATAAACTGTGACTTTTTACACTGCTGAAACTTTTTTTTTTAAGA... |
Task1_train_12112 | A mutation on Chromosome 7 affecting CFTR (CF transmembrane conductance regulator) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Cystic fibrosis | CCCATTATATTTTCTGGGTAACAAAATTTCAGTGTTATTAACATGTAGGAAGATCTTGATATTTATTCTGAAGCCCATGTGTGTTGCTGAAATATTGCCGCATTTGCATATACTCATCACCATCCTCTGTTTTGGAGCTAAGAATTTTAGACTCAAGATGTCTAATTAAGTTGATCCATTGATTTTATTTTTTATGGAAATCTGAGACCCACAGAAGGCAGGGGATTTGCCCACATTTCTAGAAGAGTCAGACATGAGCGATGAGGCACAGTGGAAAGAACATGAGCATTGCCTGAGCTCTGAGTTGGCGCTATAAGAGC... | CCCATTATATTTTCTGGGTAACAAAATTTCAGTGTTATTAACATGTAGGAAGATCTTGATATTTATTCTGAAGCCCATGTGTGTTGCTGAAATATTGCCGCATTTGCATATACTCATCACCATCCTCTGTTTTGGAGCTAAGAATTTTAGACTCAAGATGTCTAATTAAGTTGATCCATTGATTTTATTTTTTATGGAAATCTGAGACCCACAGAAGGCAGGGGATTTGCCCACATTTCTAGAAGAGTCAGACATGAGCGATGAGGCACAGTGGAAAGAACATGAGCATTGCCTGAGCTCTGAGTTGGCGCTATAAGAGC... |
Task1_train_12113 | Here is a genetic alteration in CFTR (CF transmembrane conductance regulator) on Chromosome 7. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Obstructive azoospermia | ATTTTCTGGGTAACAAAATTTCAGTGTTATTAACATGTAGGAAGATCTTGATATTTATTCTGAAGCCCATGTGTGTTGCTGAAATATTGCCGCATTTGCATATACTCATCACCATCCTCTGTTTTGGAGCTAAGAATTTTAGACTCAAGATGTCTAATTAAGTTGATCCATTGATTTTATTTTTTATGGAAATCTGAGACCCACAGAAGGCAGGGGATTTGCCCACATTTCTAGAAGAGTCAGACATGAGCGATGAGGCACAGTGGAAAGAACATGAGCATTGCCTGAGCTCTGAGTTGGCGCTATAAGAGCAGTGATCA... | ATTTTCTGGGTAACAAAATTTCAGTGTTATTAACATGTAGGAAGATCTTGATATTTATTCTGAAGCCCATGTGTGTTGCTGAAATATTGCCGCATTTGCATATACTCATCACCATCCTCTGTTTTGGAGCTAAGAATTTTAGACTCAAGATGTCTAATTAAGTTGATCCATTGATTTTATTTTTTATGGAAATCTGAGACCCACAGAAGGCAGGGGATTTGCCCACATTTCTAGAAGAGTCAGACATGAGCGATGAGGCACAGTGGAAAGAACATGAGCATTGCCTGAGCTCTGAGTTGGCGCTATAAGAGCAGTGATCA... |
Task1_train_12114 | A variant on Chromosome 7 in gene CFTR (CF transmembrane conductance regulator) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Cystic fibrosis | TTCAGTGTTATTAACATGTAGGAAGATCTTGATATTTATTCTGAAGCCCATGTGTGTTGCTGAAATATTGCCGCATTTGCATATACTCATCACCATCCTCTGTTTTGGAGCTAAGAATTTTAGACTCAAGATGTCTAATTAAGTTGATCCATTGATTTTATTTTTTATGGAAATCTGAGACCCACAGAAGGCAGGGGATTTGCCCACATTTCTAGAAGAGTCAGACATGAGCGATGAGGCACAGTGGAAAGAACATGAGCATTGCCTGAGCTCTGAGTTGGCGCTATAAGAGCAGTGATCATGGGCAAGTGACTCTTCTG... | TTCAGTGTTATTAACATGTAGGAAGATCTTGATATTTATTCTGAAGCCCATGTGTGTTGCTGAAATATTGCCGCATTTGCATATACTCATCACCATCCTCTGTTTTGGAGCTAAGAATTTTAGACTCAAGATGTCTAATTAAGTTGATCCATTGATTTTATTTTTTATGGAAATCTGAGACCCACAGAAGGCAGGGGATTTGCCCACATTTCTAGAAGAGTCAGACATGAGCGATGAGGCACAGTGGAAAGAACATGAGCATTGCCTGAGCTCTGAGTTGGCGCTATAAGAGCAGTGATCATGGGCAAGTGACTCTTCTG... |
Task1_train_12115 | A variant was discovered on Chromosome 7, affecting CFTR, LOC111674472 (CF transmembrane conductance regulator| DNase I hypersensitive sites in introns 16 and 17a of CFTR). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Cystic fibrosis | CACTGCACCAGGCCCTGTTCAACTTTTAATGCTAAGATTCATTTGTTGTTGTTTCACAAGTGATTAGGCAGAGGTCTTTTATATTAATTTACCCATTTTATTTGTAAGAGAGTCTCATATTAAGGAAGCATAATATATGACAATCCAAATACAGTACAAATTTGGTTAATTTTGATTTTGTTAAATAATTAATCACAGGGGTCCTTCAAATTGTGAGCTCCTCTGGTTATACTTATGTTTTACCTCTGGTTATACTTAATTTCAAACAAATGAAATTTCATTCTATTCATGATATTTCAGAAGCAGATCTGTTGCACAAA... | CACTGCACCAGGCCCTGTTCAACTTTTAATGCTAAGATTCATTTGTTGTTGTTTCACAAGTGATTAGGCAGAGGTCTTTTATATTAATTTACCCATTTTATTTGTAAGAGAGTCTCATATTAAGGAAGCATAATATATGACAATCCAAATACAGTACAAATTTGGTTAATTTTGATTTTGTTAAATAATTAATCACAGGGGTCCTTCAAATTGTGAGCTCCTCTGGTTATACTTATGTTTTACCTCTGGTTATACTTAATTTCAAACAAATGAAATTTCATTCTATTCATGATATTTCAGAAGCAGATCTGTTGCACAAA... |
Task1_train_12116 | Gene CFTR, LOC111674472 (CF transmembrane conductance regulator| DNase I hypersensitive sites in introns 16 and 17a of CFTR) on Chromosome 7 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Cystic fibrosis | ACCCATTTTATTTGTAAGAGAGTCTCATATTAAGGAAGCATAATATATGACAATCCAAATACAGTACAAATTTGGTTAATTTTGATTTTGTTAAATAATTAATCACAGGGGTCCTTCAAATTGTGAGCTCCTCTGGTTATACTTATGTTTTACCTCTGGTTATACTTAATTTCAAACAAATGAAATTTCATTCTATTCATGATATTTCAGAAGCAGATCTGTTGCACAAAATAAAGCATACCTATAAATTTTCTTTTTTTAAAAAAAAGTCTCTGTTCACTCTATTTTCTATTATTTTTCTCTTTTTAAAATTTGAATTT... | ACCCATTTTATTTGTAAGAGAGTCTCATATTAAGGAAGCATAATATATGACAATCCAAATACAGTACAAATTTGGTTAATTTTGATTTTGTTAAATAATTAATCACAGGGGTCCTTCAAATTGTGAGCTCCTCTGGTTATACTTATGTTTTACCTCTGGTTATACTTAATTTCAAACAAATGAAATTTCATTCTATTCATGATATTTCAGAAGCAGATCTGTTGCACAAAATAAAGCATACCTATAAATTTTCTTTTTTTAAAAAAAAGTCTCTGTTCACTCTATTTTCTATTATTTTTCTCTTTTTAAAATTTGAATTT... |
Task1_train_12117 | A change on Chromosome 7 affects gene CFTR, LOC111674472 (CF transmembrane conductance regulator| DNase I hypersensitive sites in introns 16 and 17a of CFTR). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Cystic fibrosis | AATGTAGAAATATAGAAATTTATTAAGTATGATTTATTTCAATGTTAAGCATGAGAAAATATGCTCCGAAAGGTTAGATAGCTTGCCTAAATGACAAGCTTGTATTTCAAGCAGAACTTTCTGAATCAAAAGACTCCAAGACGAATGCCCAGCTTTCAAAAACTGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTT... | AATGTAGAAATATAGAAATTTATTAAGTATGATTTATTTCAATGTTAAGCATGAGAAAATATGCTCCGAAAGGTTAGATAGCTTGCCTAAATGACAAGCTTGTATTTCAAGCAGAACTTTCTGAATCAAAAGACTCCAAGACGAATGCCCAGCTTTCAAAAACTGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTT... |
Task1_train_12118 | Here’s a variant in CFTR, LOC111674472 (CF transmembrane conductance regulator| DNase I hypersensitive sites in introns 16 and 17a of CFTR) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Cystic fibrosis | ATTAAGTATGATTTATTTCAATGTTAAGCATGAGAAAATATGCTCCGAAAGGTTAGATAGCTTGCCTAAATGACAAGCTTGTATTTCAAGCAGAACTTTCTGAATCAAAAGACTCCAAGACGAATGCCCAGCTTTCAAAAACTGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTTCAAACTTCAAAAATGTTATCA... | ATTAAGTATGATTTATTTCAATGTTAAGCATGAGAAAATATGCTCCGAAAGGTTAGATAGCTTGCCTAAATGACAAGCTTGTATTTCAAGCAGAACTTTCTGAATCAAAAGACTCCAAGACGAATGCCCAGCTTTCAAAAACTGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTTCAAACTTCAAAAATGTTATCA... |
Task1_train_12119 | The variant affects gene CFTR, LOC111674472 (CF transmembrane conductance regulator| DNase I hypersensitive sites in introns 16 and 17a of CFTR), which is on Chromosome 7. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Cystic fibrosis | TATTTCAATGTTAAGCATGAGAAAATATGCTCCGAAAGGTTAGATAGCTTGCCTAAATGACAAGCTTGTATTTCAAGCAGAACTTTCTGAATCAAAAGACTCCAAGACGAATGCCCAGCTTTCAAAAACTGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTTCAAACTTCAAAAATGTTATCAGTGACCTAAACAA... | TATTTCAATGTTAAGCATGAGAAAATATGCTCCGAAAGGTTAGATAGCTTGCCTAAATGACAAGCTTGTATTTCAAGCAGAACTTTCTGAATCAAAAGACTCCAAGACGAATGCCCAGCTTTCAAAAACTGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTTCAAACTTCAAAAATGTTATCAGTGACCTAAACAA... |
Task1_train_12120 | Here is a genetic alteration in CFTR, LOC111674472 (CF transmembrane conductance regulator| DNase I hypersensitive sites in introns 16 and 17a of CFTR) on Chromosome 7. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Cystic fibrosis | TTTCAATGTTAAGCATGAGAAAATATGCTCCGAAAGGTTAGATAGCTTGCCTAAATGACAAGCTTGTATTTCAAGCAGAACTTTCTGAATCAAAAGACTCCAAGACGAATGCCCAGCTTTCAAAAACTGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTTCAAACTTCAAAAATGTTATCAGTGACCTAAACAATT... | TTTCAATGTTAAGCATGAGAAAATATGCTCCGAAAGGTTAGATAGCTTGCCTAAATGACAAGCTTGTATTTCAAGCAGAACTTTCTGAATCAAAAGACTCCAAGACGAATGCCCAGCTTTCAAAAACTGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTTCAAACTTCAAAAATGTTATCAGTGACCTAAACAATT... |
Task1_train_12121 | This sequence change occurs on Chromosome 7, altering CFTR, LOC111674472 (CF transmembrane conductance regulator| DNase I hypersensitive sites in introns 16 and 17a of CFTR). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Cystic fibrosis | TTCAATGTTAAGCATGAGAAAATATGCTCCGAAAGGTTAGATAGCTTGCCTAAATGACAAGCTTGTATTTCAAGCAGAACTTTCTGAATCAAAAGACTCCAAGACGAATGCCCAGCTTTCAAAAACTGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTTCAAACTTCAAAAATGTTATCAGTGACCTAAACAATTT... | TTCAATGTTAAGCATGAGAAAATATGCTCCGAAAGGTTAGATAGCTTGCCTAAATGACAAGCTTGTATTTCAAGCAGAACTTTCTGAATCAAAAGACTCCAAGACGAATGCCCAGCTTTCAAAAACTGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTTCAAACTTCAAAAATGTTATCAGTGACCTAAACAATTT... |
Task1_train_12122 | This sequence change occurs on Chromosome 7, altering CFTR, LOC111674472 (CF transmembrane conductance regulator| DNase I hypersensitive sites in introns 16 and 17a of CFTR). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Cystic fibrosis | GAGAAAATATGCTCCGAAAGGTTAGATAGCTTGCCTAAATGACAAGCTTGTATTTCAAGCAGAACTTTCTGAATCAAAAGACTCCAAGACGAATGCCCAGCTTTCAAAAACTGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTTCAAACTTCAAAAATGTTATCAGTGACCTAAACAATTTTTAAAATTTTCATAG... | GAGAAAATATGCTCCGAAAGGTTAGATAGCTTGCCTAAATGACAAGCTTGTATTTCAAGCAGAACTTTCTGAATCAAAAGACTCCAAGACGAATGCCCAGCTTTCAAAAACTGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTTCAAACTTCAAAAATGTTATCAGTGACCTAAACAATTTTTAAAATTTTCATAG... |
Task1_train_12123 | The gene CFTR, LOC111674472 (CF transmembrane conductance regulator| DNase I hypersensitive sites in introns 16 and 17a of CFTR) is located on Chromosome 7, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Cystic fibrosis | AGGTTAGATAGCTTGCCTAAATGACAAGCTTGTATTTCAAGCAGAACTTTCTGAATCAAAAGACTCCAAGACGAATGCCCAGCTTTCAAAAACTGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTTCAAACTTCAAAAATGTTATCAGTGACCTAAACAATTTTTAAAATTTTCATAGAGCCTATGAAAAATGTAC... | AGGTTAGATAGCTTGCCTAAATGACAAGCTTGTATTTCAAGCAGAACTTTCTGAATCAAAAGACTCCAAGACGAATGCCCAGCTTTCAAAAACTGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTTCAAACTTCAAAAATGTTATCAGTGACCTAAACAATTTTTAAAATTTTCATAGAGCCTATGAAAAATGTAC... |
Task1_train_12124 | This alteration occurs within gene CFTR, LOC111674472 (CF transmembrane conductance regulator| DNase I hypersensitive sites in introns 16 and 17a of CFTR) located on Chromosome 7. Is it associated with a disease or is it a benign variant? | Pathogenic; Cystic fibrosis | ACTCCAAGACGAATGCCCAGCTTTCAAAAACTGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTTCAAACTTCAAAAATGTTATCAGTGACCTAAACAATTTTTAAAATTTTCATAGAGCCTATGAAAAATGTACTTGCAAATGGCTACTTTCTGACTAGGAATAGAATGGGGAGAGTATTTAGTCCAACAATGATA... | ACTCCAAGACGAATGCCCAGCTTTCAAAAACTGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTTCAAACTTCAAAAATGTTATCAGTGACCTAAACAATTTTTAAAATTTTCATAGAGCCTATGAAAAATGTACTTGCAAATGGCTACTTTCTGACTAGGAATAGAATGGGGAGAGTATTTAGTCCAACAATGATA... |
Task1_train_12125 | This variant affects gene LOC111674472, CFTR (DNase I hypersensitive sites in introns 16 and 17a of CFTR| CF transmembrane conductance regulator) located on Chromosome 7. Evaluate its biological effect and specify any disease association. | Pathogenic; Cystic fibrosis | TCCAAGACGAATGCCCAGCTTTCAAAAACTGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTTCAAACTTCAAAAATGTTATCAGTGACCTAAACAATTTTTAAAATTTTCATAGAGCCTATGAAAAATGTACTTGCAAATGGCTACTTTCTGACTAGGAATAGAATGGGGAGAGTATTTAGTCCAACAATGATAGA... | TCCAAGACGAATGCCCAGCTTTCAAAAACTGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTTCAAACTTCAAAAATGTTATCAGTGACCTAAACAATTTTTAAAATTTTCATAGAGCCTATGAAAAATGTACTTGCAAATGGCTACTTTCTGACTAGGAATAGAATGGGGAGAGTATTTAGTCCAACAATGATAGA... |
Task1_train_12126 | The variant affects gene CFTR, LOC111674472 (CF transmembrane conductance regulator| DNase I hypersensitive sites in introns 16 and 17a of CFTR), which is on Chromosome 7. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Cystic fibrosis | TCCAAGACGAATGCCCAGCTTTCAAAAACTGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTTCAAACTTCAAAAATGTTATCAGTGACCTAAACAATTTTTAAAATTTTCATAGAGCCTATGAAAAATGTACTTGCAAATGGCTACTTTCTGACTAGGAATAGAATGGGGAGAGTATTTAGTCCAACAATGATAGA... | TCCAAGACGAATGCCCAGCTTTCAAAAACTGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTTCAAACTTCAAAAATGTTATCAGTGACCTAAACAATTTTTAAAATTTTCATAGAGCCTATGAAAAATGTACTTGCAAATGGCTACTTTCTGACTAGGAATAGAATGGGGAGAGTATTTAGTCCAACAATGATAGA... |
Task1_train_12127 | Assess the clinical impact of this variant on gene CFTR, LOC111674472 (CF transmembrane conductance regulator| DNase I hypersensitive sites in introns 16 and 17a of CFTR), found on Chromosome 7. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Cystic fibrosis | GAATGCCCAGCTTTCAAAAACTGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTTCAAACTTCAAAAATGTTATCAGTGACCTAAACAATTTTTAAAATTTTCATAGAGCCTATGAAAAATGTACTTGCAAATGGCTACTTTCTGACTAGGAATAGAATGGGGAGAGTATTTAGTCCAACAATGATAGACTGGATTA... | GAATGCCCAGCTTTCAAAAACTGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTTCAAACTTCAAAAATGTTATCAGTGACCTAAACAATTTTTAAAATTTTCATAGAGCCTATGAAAAATGTACTTGCAAATGGCTACTTTCTGACTAGGAATAGAATGGGGAGAGTATTTAGTCCAACAATGATAGACTGGATTA... |
Task1_train_12128 | A sequence alteration has been identified in LOC111674472, CFTR (DNase I hypersensitive sites in introns 16 and 17a of CFTR| CF transmembrane conductance regulator) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; Cystic fibrosis | GAATGCCCAGCTTTCAAAAACTGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTTCAAACTTCAAAAATGTTATCAGTGACCTAAACAATTTTTAAAATTTTCATAGAGCCTATGAAAAATGTACTTGCAAATGGCTACTTTCTGACTAGGAATAGAATGGGGAGAGTATTTAGTCCAACAATGATAGACTGGATTA... | GAATGCCCAGCTTTCAAAAACTGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTTCAAACTTCAAAAATGTTATCAGTGACCTAAACAATTTTTAAAATTTTCATAGAGCCTATGAAAAATGTACTTGCAAATGGCTACTTTCTGACTAGGAATAGAATGGGGAGAGTATTTAGTCCAACAATGATAGACTGGATTA... |
Task1_train_12129 | A variant on Chromosome 7 in gene CFTR, LOC111674472 (CF transmembrane conductance regulator| DNase I hypersensitive sites in introns 16 and 17a of CFTR) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Cystic fibrosis | CTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTTCAAACTTCAAAAATGTTATCAGTGACCTAAACAATTTTTAAAATTTTCATAGAGCCTATGAAAAATGTACTTGCAAATGGCTACTTTCTGACTAGGAATAGAATGGGGAGAGTATTTAGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAACACTATGCAGCCATAAAAAATG... | CTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTTCAAACTTCAAAAATGTTATCAGTGACCTAAACAATTTTTAAAATTTTCATAGAGCCTATGAAAAATGTACTTGCAAATGGCTACTTTCTGACTAGGAATAGAATGGGGAGAGTATTTAGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAACACTATGCAGCCATAAAAAATG... |
Task1_train_12130 | This mutation is located in gene CFTR (CF transmembrane conductance regulator) on Chromosome 7. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Cystic fibrosis | ATACTACTATGTGTAATTTTGAGTCATTTAGATAGCAACAGTTAAATGTTTTATAGATTGTTTGGAAGTATTAAAATGTGAAGGATTTTTGTTATATAGTGTCTTTCCTATCTTGCTTAATAAAATATAAGTTTAGAATTGTGTATAGAATTAACATGCAAAAATATCAAGTCTCAACTTTATACAGTTAATCTACATTTGTGTATACCCTTCAATTATTTCAAGAGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTA... | ATACTACTATGTGTAATTTTGAGTCATTTAGATAGCAACAGTTAAATGTTTTATAGATTGTTTGGAAGTATTAAAATGTGAAGGATTTTTGTTATATAGTGTCTTTCCTATCTTGCTTAATAAAATATAAGTTTAGAATTGTGTATAGAATTAACATGCAAAAATATCAAGTCTCAACTTTATACAGTTAATCTACATTTGTGTATACCCTTCAATTATTTCAAGAGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTA... |
Task1_train_12131 | An alteration has been detected in CFTR (CF transmembrane conductance regulator) on Chromosome 7. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Cystic fibrosis | TACTACTATGTGTAATTTTGAGTCATTTAGATAGCAACAGTTAAATGTTTTATAGATTGTTTGGAAGTATTAAAATGTGAAGGATTTTTGTTATATAGTGTCTTTCCTATCTTGCTTAATAAAATATAAGTTTAGAATTGTGTATAGAATTAACATGCAAAAATATCAAGTCTCAACTTTATACAGTTAATCTACATTTGTGTATACCCTTCAATTATTTCAAGAGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTAA... | TACTACTATGTGTAATTTTGAGTCATTTAGATAGCAACAGTTAAATGTTTTATAGATTGTTTGGAAGTATTAAAATGTGAAGGATTTTTGTTATATAGTGTCTTTCCTATCTTGCTTAATAAAATATAAGTTTAGAATTGTGTATAGAATTAACATGCAAAAATATCAAGTCTCAACTTTATACAGTTAATCTACATTTGTGTATACCCTTCAATTATTTCAAGAGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTAA... |
Task1_train_12132 | This alteration in CFTR (CF transmembrane conductance regulator) on Chromosome 7 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Cystic fibrosis | AGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTAATTTTATCTCCCAGACCTTATTATAGACTAGCAGCTCTCTATGAAAATTAGTGACAGTGTGAGTGTATTTTAATTCAAAGTTAATCAAGAATGACTGAGTCAAGAGTTAGCTACCCCTGAAAGTAACTCATAATTCAGAATTTAAAATATTACATGTGGAACAATCATGACTATATGCCTTTTACTTTCTCTATCATTATTTAGGTTGTGGGCTTTGGGTCCTTT... | AGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTAATTTTATCTCCCAGACCTTATTATAGACTAGCAGCTCTCTATGAAAATTAGTGACAGTGTGAGTGTATTTTAATTCAAAGTTAATCAAGAATGACTGAGTCAAGAGTTAGCTACCCCTGAAAGTAACTCATAATTCAGAATTTAAAATATTACATGTGGAACAATCATGACTATATGCCTTTTACTTTCTCTATCATTATTTAGGTTGTGGGCTTTGGGTCCTTT... |
Task1_train_12133 | Chromosome 7 houses a mutation in gene CFTR (CF transmembrane conductance regulator). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Cystic fibrosis | TCTTCATCCAGTCTTTCCCAACCTAAAAACTGAGTTCTCTAAAAATTTTAGTATTTTTTTCTGAAGAAAAGGGAACATGGACATTTATCTAATCCTCATTAGAAATCTGACTAATGATAACAAGGATTTAGACCTCAAGCACTTCTTACCAAAATTCTTGATATGACCTTATAGCAAATTACTTTCACCTGTTGAACTTTCCTTTCTTTTATTCCCCTGTACCTCACCTGCACTGGGCATATTCAAGTTGCTTATACAACACTTTACTATTGTGTTAGAAAAATCATGACACATGATGAATGTGTTTGTGCAACATGAGC... | TCTTCATCCAGTCTTTCCCAACCTAAAAACTGAGTTCTCTAAAAATTTTAGTATTTTTTTCTGAAGAAAAGGGAACATGGACATTTATCTAATCCTCATTAGAAATCTGACTAATGATAACAAGGATTTAGACCTCAAGCACTTCTTACCAAAATTCTTGATATGACCTTATAGCAAATTACTTTCACCTGTTGAACTTTCCTTTCTTTTATTCCCCTGTACCTCACCTGCACTGGGCATATTCAAGTTGCTTATACAACACTTTACTATTGTGTTAGAAAAATCATGACACATGATGAATGTGTTTGTGCAACATGAGC... |
Task1_train_12134 | A change on Chromosome 7 affects gene CFTR (CF transmembrane conductance regulator). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Cystic fibrosis | TCTTTCCCAACCTAAAAACTGAGTTCTCTAAAAATTTTAGTATTTTTTTCTGAAGAAAAGGGAACATGGACATTTATCTAATCCTCATTAGAAATCTGACTAATGATAACAAGGATTTAGACCTCAAGCACTTCTTACCAAAATTCTTGATATGACCTTATAGCAAATTACTTTCACCTGTTGAACTTTCCTTTCTTTTATTCCCCTGTACCTCACCTGCACTGGGCATATTCAAGTTGCTTATACAACACTTTACTATTGTGTTAGAAAAATCATGACACATGATGAATGTGTTTGTGCAACATGAGCTGATTCATAAA... | TCTTTCCCAACCTAAAAACTGAGTTCTCTAAAAATTTTAGTATTTTTTTCTGAAGAAAAGGGAACATGGACATTTATCTAATCCTCATTAGAAATCTGACTAATGATAACAAGGATTTAGACCTCAAGCACTTCTTACCAAAATTCTTGATATGACCTTATAGCAAATTACTTTCACCTGTTGAACTTTCCTTTCTTTTATTCCCCTGTACCTCACCTGCACTGGGCATATTCAAGTTGCTTATACAACACTTTACTATTGTGTTAGAAAAATCATGACACATGATGAATGTGTTTGTGCAACATGAGCTGATTCATAAA... |
Task1_train_12135 | Gene CFTR (CF transmembrane conductance regulator) on Chromosome 7 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Cystic fibrosis | AAACTGAGTTCTCTAAAAATTTTAGTATTTTTTTCTGAAGAAAAGGGAACATGGACATTTATCTAATCCTCATTAGAAATCTGACTAATGATAACAAGGATTTAGACCTCAAGCACTTCTTACCAAAATTCTTGATATGACCTTATAGCAAATTACTTTCACCTGTTGAACTTTCCTTTCTTTTATTCCCCTGTACCTCACCTGCACTGGGCATATTCAAGTTGCTTATACAACACTTTACTATTGTGTTAGAAAAATCATGACACATGATGAATGTGTTTGTGCAACATGAGCTGATTCATAAATGAAAATGTGCATTG... | AAACTGAGTTCTCTAAAAATTTTAGTATTTTTTTCTGAAGAAAAGGGAACATGGACATTTATCTAATCCTCATTAGAAATCTGACTAATGATAACAAGGATTTAGACCTCAAGCACTTCTTACCAAAATTCTTGATATGACCTTATAGCAAATTACTTTCACCTGTTGAACTTTCCTTTCTTTTATTCCCCTGTACCTCACCTGCACTGGGCATATTCAAGTTGCTTATACAACACTTTACTATTGTGTTAGAAAAATCATGACACATGATGAATGTGTTTGTGCAACATGAGCTGATTCATAAATGAAAATGTGCATTG... |
Task1_train_12136 | This genomic variant is located on Chromosome 7, within the CFTR (CF transmembrane conductance regulator) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Cystic fibrosis | AAACTGAGTTCTCTAAAAATTTTAGTATTTTTTTCTGAAGAAAAGGGAACATGGACATTTATCTAATCCTCATTAGAAATCTGACTAATGATAACAAGGATTTAGACCTCAAGCACTTCTTACCAAAATTCTTGATATGACCTTATAGCAAATTACTTTCACCTGTTGAACTTTCCTTTCTTTTATTCCCCTGTACCTCACCTGCACTGGGCATATTCAAGTTGCTTATACAACACTTTACTATTGTGTTAGAAAAATCATGACACATGATGAATGTGTTTGTGCAACATGAGCTGATTCATAAATGAAAATGTGCATTG... | AAACTGAGTTCTCTAAAAATTTTAGTATTTTTTTCTGAAGAAAAGGGAACATGGACATTTATCTAATCCTCATTAGAAATCTGACTAATGATAACAAGGATTTAGACCTCAAGCACTTCTTACCAAAATTCTTGATATGACCTTATAGCAAATTACTTTCACCTGTTGAACTTTCCTTTCTTTTATTCCCCTGTACCTCACCTGCACTGGGCATATTCAAGTTGCTTATACAACACTTTACTATTGTGTTAGAAAAATCATGACACATGATGAATGTGTTTGTGCAACATGAGCTGATTCATAAATGAAAATGTGCATTG... |
Task1_train_12137 | This sequence change occurs on Chromosome 7, altering CFTR (CF transmembrane conductance regulator). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Cystic fibrosis | TCTAATCCTCATTAGAAATCTGACTAATGATAACAAGGATTTAGACCTCAAGCACTTCTTACCAAAATTCTTGATATGACCTTATAGCAAATTACTTTCACCTGTTGAACTTTCCTTTCTTTTATTCCCCTGTACCTCACCTGCACTGGGCATATTCAAGTTGCTTATACAACACTTTACTATTGTGTTAGAAAAATCATGACACATGATGAATGTGTTTGTGCAACATGAGCTGATTCATAAATGAAAATGTGCATTGAAATTCCACAATATTTTAAAATTAGGAGTTTATCTAGCAATTGAACAAAATTGATTAAATC... | TCTAATCCTCATTAGAAATCTGACTAATGATAACAAGGATTTAGACCTCAAGCACTTCTTACCAAAATTCTTGATATGACCTTATAGCAAATTACTTTCACCTGTTGAACTTTCCTTTCTTTTATTCCCCTGTACCTCACCTGCACTGGGCATATTCAAGTTGCTTATACAACACTTTACTATTGTGTTAGAAAAATCATGACACATGATGAATGTGTTTGTGCAACATGAGCTGATTCATAAATGAAAATGTGCATTGAAATTCCACAATATTTTAAAATTAGGAGTTTATCTAGCAATTGAACAAAATTGATTAAATC... |
Task1_train_12138 | A variant was discovered in gene CFTR (CF transmembrane conductance regulator), Chromosome 7. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Bronchiectasis with or without elevated sweat chloride 1 | ATTTAGACCTCAAGCACTTCTTACCAAAATTCTTGATATGACCTTATAGCAAATTACTTTCACCTGTTGAACTTTCCTTTCTTTTATTCCCCTGTACCTCACCTGCACTGGGCATATTCAAGTTGCTTATACAACACTTTACTATTGTGTTAGAAAAATCATGACACATGATGAATGTGTTTGTGCAACATGAGCTGATTCATAAATGAAAATGTGCATTGAAATTCCACAATATTTTAAAATTAGGAGTTTATCTAGCAATTGAACAAAATTGATTAAATCCATTATTTGTTAGATCAGCTAAATTACATAAGTTCATT... | ATTTAGACCTCAAGCACTTCTTACCAAAATTCTTGATATGACCTTATAGCAAATTACTTTCACCTGTTGAACTTTCCTTTCTTTTATTCCCCTGTACCTCACCTGCACTGGGCATATTCAAGTTGCTTATACAACACTTTACTATTGTGTTAGAAAAATCATGACACATGATGAATGTGTTTGTGCAACATGAGCTGATTCATAAATGAAAATGTGCATTGAAATTCCACAATATTTTAAAATTAGGAGTTTATCTAGCAATTGAACAAAATTGATTAAATCCATTATTTGTTAGATCAGCTAAATTACATAAGTTCATT... |
Task1_train_12139 | An alteration has been detected in CFTR (CF transmembrane conductance regulator) on Chromosome 7. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Cystic fibrosis | ATTTAGACCTCAAGCACTTCTTACCAAAATTCTTGATATGACCTTATAGCAAATTACTTTCACCTGTTGAACTTTCCTTTCTTTTATTCCCCTGTACCTCACCTGCACTGGGCATATTCAAGTTGCTTATACAACACTTTACTATTGTGTTAGAAAAATCATGACACATGATGAATGTGTTTGTGCAACATGAGCTGATTCATAAATGAAAATGTGCATTGAAATTCCACAATATTTTAAAATTAGGAGTTTATCTAGCAATTGAACAAAATTGATTAAATCCATTATTTGTTAGATCAGCTAAATTACATAAGTTCATT... | ATTTAGACCTCAAGCACTTCTTACCAAAATTCTTGATATGACCTTATAGCAAATTACTTTCACCTGTTGAACTTTCCTTTCTTTTATTCCCCTGTACCTCACCTGCACTGGGCATATTCAAGTTGCTTATACAACACTTTACTATTGTGTTAGAAAAATCATGACACATGATGAATGTGTTTGTGCAACATGAGCTGATTCATAAATGAAAATGTGCATTGAAATTCCACAATATTTTAAAATTAGGAGTTTATCTAGCAATTGAACAAAATTGATTAAATCCATTATTTGTTAGATCAGCTAAATTACATAAGTTCATT... |
Task1_train_12140 | A variant was discovered in gene CFTR (CF transmembrane conductance regulator), Chromosome 7. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Cystic fibrosis | ATTTAGACCTCAAGCACTTCTTACCAAAATTCTTGATATGACCTTATAGCAAATTACTTTCACCTGTTGAACTTTCCTTTCTTTTATTCCCCTGTACCTCACCTGCACTGGGCATATTCAAGTTGCTTATACAACACTTTACTATTGTGTTAGAAAAATCATGACACATGATGAATGTGTTTGTGCAACATGAGCTGATTCATAAATGAAAATGTGCATTGAAATTCCACAATATTTTAAAATTAGGAGTTTATCTAGCAATTGAACAAAATTGATTAAATCCATTATTTGTTAGATCAGCTAAATTACATAAGTTCATT... | ATTTAGACCTCAAGCACTTCTTACCAAAATTCTTGATATGACCTTATAGCAAATTACTTTCACCTGTTGAACTTTCCTTTCTTTTATTCCCCTGTACCTCACCTGCACTGGGCATATTCAAGTTGCTTATACAACACTTTACTATTGTGTTAGAAAAATCATGACACATGATGAATGTGTTTGTGCAACATGAGCTGATTCATAAATGAAAATGTGCATTGAAATTCCACAATATTTTAAAATTAGGAGTTTATCTAGCAATTGAACAAAATTGATTAAATCCATTATTTGTTAGATCAGCTAAATTACATAAGTTCATT... |
Task1_train_12141 | This variant affects gene CFTR (CF transmembrane conductance regulator) located on Chromosome 7. Evaluate its biological effect and specify any disease association. | Pathogenic; Cystic fibrosis | AGACCTCAAGCACTTCTTACCAAAATTCTTGATATGACCTTATAGCAAATTACTTTCACCTGTTGAACTTTCCTTTCTTTTATTCCCCTGTACCTCACCTGCACTGGGCATATTCAAGTTGCTTATACAACACTTTACTATTGTGTTAGAAAAATCATGACACATGATGAATGTGTTTGTGCAACATGAGCTGATTCATAAATGAAAATGTGCATTGAAATTCCACAATATTTTAAAATTAGGAGTTTATCTAGCAATTGAACAAAATTGATTAAATCCATTATTTGTTAGATCAGCTAAATTACATAAGTTCATTCATC... | AGACCTCAAGCACTTCTTACCAAAATTCTTGATATGACCTTATAGCAAATTACTTTCACCTGTTGAACTTTCCTTTCTTTTATTCCCCTGTACCTCACCTGCACTGGGCATATTCAAGTTGCTTATACAACACTTTACTATTGTGTTAGAAAAATCATGACACATGATGAATGTGTTTGTGCAACATGAGCTGATTCATAAATGAAAATGTGCATTGAAATTCCACAATATTTTAAAATTAGGAGTTTATCTAGCAATTGAACAAAATTGATTAAATCCATTATTTGTTAGATCAGCTAAATTACATAAGTTCATTCATC... |
Task1_train_12142 | Gene CFTR (CF transmembrane conductance regulator), found on Chromosome 7, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Cystic fibrosis | GCACTTCTTACCAAAATTCTTGATATGACCTTATAGCAAATTACTTTCACCTGTTGAACTTTCCTTTCTTTTATTCCCCTGTACCTCACCTGCACTGGGCATATTCAAGTTGCTTATACAACACTTTACTATTGTGTTAGAAAAATCATGACACATGATGAATGTGTTTGTGCAACATGAGCTGATTCATAAATGAAAATGTGCATTGAAATTCCACAATATTTTAAAATTAGGAGTTTATCTAGCAATTGAACAAAATTGATTAAATCCATTATTTGTTAGATCAGCTAAATTACATAAGTTCATTCATCTGCTCATAA... | GCACTTCTTACCAAAATTCTTGATATGACCTTATAGCAAATTACTTTCACCTGTTGAACTTTCCTTTCTTTTATTCCCCTGTACCTCACCTGCACTGGGCATATTCAAGTTGCTTATACAACACTTTACTATTGTGTTAGAAAAATCATGACACATGATGAATGTGTTTGTGCAACATGAGCTGATTCATAAATGAAAATGTGCATTGAAATTCCACAATATTTTAAAATTAGGAGTTTATCTAGCAATTGAACAAAATTGATTAAATCCATTATTTGTTAGATCAGCTAAATTACATAAGTTCATTCATCTGCTCATAA... |
Task1_train_12143 | This sequence variant lies in CFTR (CF transmembrane conductance regulator) on Chromosome 7. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Cystic fibrosis | CATTTGGCTGCTGCTGCCCAACCTTTAATCTTTCCTGAGCTTTAAATAGGAAGGAAAAAATGGTCCACAAAGGATTTGAGCCATTTTGCTGTGGTGATGAGGAGCACGGGTTTAGAGACAAACACTCCTGTGTTTGAATTCCAGCTCCTACTATCTCCTAGCTAAGTGACCTTGGACAAGTCACTTACCTTCTCCAACCTGCTGTTTCTTCATGTACGTAATAGGATTTACCTCATGAGGTTGACATGAAGATTGAAAGAGGTAACATATAGAATGAGCCTGTCCCAGGACATGGTTCATGATAAGTCTGCCATAAATGG... | CATTTGGCTGCTGCTGCCCAACCTTTAATCTTTCCTGAGCTTTAAATAGGAAGGAAAAAATGGTCCACAAAGGATTTGAGCCATTTTGCTGTGGTGATGAGGAGCACGGGTTTAGAGACAAACACTCCTGTGTTTGAATTCCAGCTCCTACTATCTCCTAGCTAAGTGACCTTGGACAAGTCACTTACCTTCTCCAACCTGCTGTTTCTTCATGTACGTAATAGGATTTACCTCATGAGGTTGACATGAAGATTGAAAGAGGTAACATATAGAATGAGCCTGTCCCAGGACATGGTTCATGATAAGTCTGCCATAAATGG... |
Task1_train_12144 | This sequence variant lies in CFTR (CF transmembrane conductance regulator) on Chromosome 7. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Cystic fibrosis | TTTGGCTGCTGCTGCCCAACCTTTAATCTTTCCTGAGCTTTAAATAGGAAGGAAAAAATGGTCCACAAAGGATTTGAGCCATTTTGCTGTGGTGATGAGGAGCACGGGTTTAGAGACAAACACTCCTGTGTTTGAATTCCAGCTCCTACTATCTCCTAGCTAAGTGACCTTGGACAAGTCACTTACCTTCTCCAACCTGCTGTTTCTTCATGTACGTAATAGGATTTACCTCATGAGGTTGACATGAAGATTGAAAGAGGTAACATATAGAATGAGCCTGTCCCAGGACATGGTTCATGATAAGTCTGCCATAAATGGGA... | TTTGGCTGCTGCTGCCCAACCTTTAATCTTTCCTGAGCTTTAAATAGGAAGGAAAAAATGGTCCACAAAGGATTTGAGCCATTTTGCTGTGGTGATGAGGAGCACGGGTTTAGAGACAAACACTCCTGTGTTTGAATTCCAGCTCCTACTATCTCCTAGCTAAGTGACCTTGGACAAGTCACTTACCTTCTCCAACCTGCTGTTTCTTCATGTACGTAATAGGATTTACCTCATGAGGTTGACATGAAGATTGAAAGAGGTAACATATAGAATGAGCCTGTCCCAGGACATGGTTCATGATAAGTCTGCCATAAATGGGA... |
Task1_train_12145 | This variant impacts the gene CFTR (CF transmembrane conductance regulator) on Chromosome 7. Is the change likely to result in a pathogenic outcome? | Pathogenic; Cystic fibrosis | CTACATCTTAGGAAGATCCCTGGGGTGTTTGTATGGTGGACTTGCAATTTGACTAATTGAGATTTGTAGGATGATTCTTAAGAGATGATGATGACCCAGACTGGGATCACTATAATAGAGTTGGTAAGGAGGAGAATGATTTAAAAAGTAGTTGGAAGAATTCTAGGGATGGAGATAAACATTTGAAAATTATTAACTTATAGGTGGTCATCAATACCCTGAAAATGACTGGGATCTCAGAGGAGAGTCTGGAGAGTTGGAAATGACAAAGACTAATATTCAAGGGGGCAGGAAGAGGGAGAGTTGTTCACACATGACAA... | CTACATCTTAGGAAGATCCCTGGGGTGTTTGTATGGTGGACTTGCAATTTGACTAATTGAGATTTGTAGGATGATTCTTAAGAGATGATGATGACCCAGACTGGGATCACTATAATAGAGTTGGTAAGGAGGAGAATGATTTAAAAAGTAGTTGGAAGAATTCTAGGGATGGAGATAAACATTTGAAAATTATTAACTTATAGGTGGTCATCAATACCCTGAAAATGACTGGGATCTCAGAGGAGAGTCTGGAGAGTTGGAAATGACAAAGACTAATATTCAAGGGGGCAGGAAGAGGGAGAGTTGTTCACACATGACAA... |
Task1_train_12146 | A change on Chromosome 7 affects gene CFTR (CF transmembrane conductance regulator). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Cystic fibrosis | TGGTGGACTTGCAATTTGACTAATTGAGATTTGTAGGATGATTCTTAAGAGATGATGATGACCCAGACTGGGATCACTATAATAGAGTTGGTAAGGAGGAGAATGATTTAAAAAGTAGTTGGAAGAATTCTAGGGATGGAGATAAACATTTGAAAATTATTAACTTATAGGTGGTCATCAATACCCTGAAAATGACTGGGATCTCAGAGGAGAGTCTGGAGAGTTGGAAATGACAAAGACTAATATTCAAGGGGGCAGGAAGAGGGAGAGTTGTTCACACATGACAATAGGAAGAAATGGCCATAGAGTGTGTGGTTTCT... | TGGTGGACTTGCAATTTGACTAATTGAGATTTGTAGGATGATTCTTAAGAGATGATGATGACCCAGACTGGGATCACTATAATAGAGTTGGTAAGGAGGAGAATGATTTAAAAAGTAGTTGGAAGAATTCTAGGGATGGAGATAAACATTTGAAAATTATTAACTTATAGGTGGTCATCAATACCCTGAAAATGACTGGGATCTCAGAGGAGAGTCTGGAGAGTTGGAAATGACAAAGACTAATATTCAAGGGGGCAGGAAGAGGGAGAGTTGTTCACACATGACAATAGGAAGAAATGGCCATAGAGTGTGTGGTTTCT... |
Task1_train_12147 | This variant affects the gene CFTR (CF transmembrane conductance regulator) found on Chromosome 7. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Cystic fibrosis | AGGAGGAGAATGATTTAAAAAGTAGTTGGAAGAATTCTAGGGATGGAGATAAACATTTGAAAATTATTAACTTATAGGTGGTCATCAATACCCTGAAAATGACTGGGATCTCAGAGGAGAGTCTGGAGAGTTGGAAATGACAAAGACTAATATTCAAGGGGGCAGGAAGAGGGAGAGTTGTTCACACATGACAATAGGAAGAAATGGCCATAGAGTGTGTGGTTTCTCTCAAGCCAAGGAATAGATGTTTTAAGAAAGGAAAATTCTTGTGGTGGGAAGCAGTAGAGATGACAGATACACATTAATTTCTTGAGATTTCT... | AGGAGGAGAATGATTTAAAAAGTAGTTGGAAGAATTCTAGGGATGGAGATAAACATTTGAAAATTATTAACTTATAGGTGGTCATCAATACCCTGAAAATGACTGGGATCTCAGAGGAGAGTCTGGAGAGTTGGAAATGACAAAGACTAATATTCAAGGGGGCAGGAAGAGGGAGAGTTGTTCACACATGACAATAGGAAGAAATGGCCATAGAGTGTGTGGTTTCTCTCAAGCCAAGGAATAGATGTTTTAAGAAAGGAAAATTCTTGTGGTGGGAAGCAGTAGAGATGACAGATACACATTAATTTCTTGAGATTTCT... |
Task1_train_12148 | The gene CFTR (CF transmembrane conductance regulator), on Chromosome 7, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Cystic fibrosis | GGAAGAATTCTAGGGATGGAGATAAACATTTGAAAATTATTAACTTATAGGTGGTCATCAATACCCTGAAAATGACTGGGATCTCAGAGGAGAGTCTGGAGAGTTGGAAATGACAAAGACTAATATTCAAGGGGGCAGGAAGAGGGAGAGTTGTTCACACATGACAATAGGAAGAAATGGCCATAGAGTGTGTGGTTTCTCTCAAGCCAAGGAATAGATGTTTTAAGAAAGGAAAATTCTTGTGGTGGGAAGCAGTAGAGATGACAGATACACATTAATTTCTTGAGATTTCTAGATGACTAAATGGGCAGATGTTGAAT... | GGAAGAATTCTAGGGATGGAGATAAACATTTGAAAATTATTAACTTATAGGTGGTCATCAATACCCTGAAAATGACTGGGATCTCAGAGGAGAGTCTGGAGAGTTGGAAATGACAAAGACTAATATTCAAGGGGGCAGGAAGAGGGAGAGTTGTTCACACATGACAATAGGAAGAAATGGCCATAGAGTGTGTGGTTTCTCTCAAGCCAAGGAATAGATGTTTTAAGAAAGGAAAATTCTTGTGGTGGGAAGCAGTAGAGATGACAGATACACATTAATTTCTTGAGATTTCTAGATGACTAAATGGGCAGATGTTGAAT... |
Task1_train_12149 | A variant found in Chromosome 7 affects KCND2 (potassium voltage-gated channel subfamily D member 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Early myoclonic encephalopathy | GAGTCCCCTCCGTTCTCGCCTCCCCCGCACCTTTTGAACTTGTTGCTGCTGCTCTGCTCGCCTGCGCCTGGCTTTTGGAAGGTGAAAAGGAGGAGGGAGGCACGGAGGGATGGGGGAAGGGAAAGAAGAGCTCGCTTGAGCTTTATTTATGCTCTCTCGGCGCATCGGATTCGGCTGCTCGCGAGCTGCTTTCTCTCCTCTTCCCTTTCCGGGTGCACGGCGAGGAGAAAGTCTCTATGCAACTAAGCCCCGGCGCGCACTTGGCCAGGTATGTACCGCGGGAGCGGCGCGTTCTGCGCGGAAGCAGATGCTGCTGCCGC... | GAGTCCCCTCCGTTCTCGCCTCCCCCGCACCTTTTGAACTTGTTGCTGCTGCTCTGCTCGCCTGCGCCTGGCTTTTGGAAGGTGAAAAGGAGGAGGGAGGCACGGAGGGATGGGGGAAGGGAAAGAAGAGCTCGCTTGAGCTTTATTTATGCTCTCTCGGCGCATCGGATTCGGCTGCTCGCGAGCTGCTTTCTCTCCTCTTCCCTTTCCGGGTGCACGGCGAGGAGAAAGTCTCTATGCAACTAAGCCCCGGCGCGCACTTGGCCAGGTATGTACCGCGGGAGCGGCGCGTTCTGCGCGGAAGCAGATGCTGCTGCCGC... |
Task1_train_12150 | This alteration occurs within gene KCND2 (potassium voltage-gated channel subfamily D member 2) located on Chromosome 7. Is it associated with a disease or is it a benign variant? | Pathogenic; Early myoclonic encephalopathy | AGCTGCTTTCTCTCCTCTTCCCTTTCCGGGTGCACGGCGAGGAGAAAGTCTCTATGCAACTAAGCCCCGGCGCGCACTTGGCCAGGTATGTACCGCGGGAGCGGCGCGTTCTGCGCGGAAGCAGATGCTGCTGCCGCCACGGCGGCGGCGGCTGCCAGCTCCTGAGCTCTGTAACTGTCACACTGCACCTGAGCTGAACTTGAAAAGAGAGTGAAGGGGCGATTGGGCGAACGCTTTTGGCAGACACAGAGGGTGTTTGTAGACGTGGGGGAGGAGAATCTCTATTAACGCCCCCCACCGTAACCACTGCACATCACCTC... | AGCTGCTTTCTCTCCTCTTCCCTTTCCGGGTGCACGGCGAGGAGAAAGTCTCTATGCAACTAAGCCCCGGCGCGCACTTGGCCAGGTATGTACCGCGGGAGCGGCGCGTTCTGCGCGGAAGCAGATGCTGCTGCCGCCACGGCGGCGGCGGCTGCCAGCTCCTGAGCTCTGTAACTGTCACACTGCACCTGAGCTGAACTTGAAAAGAGAGTGAAGGGGCGATTGGGCGAACGCTTTTGGCAGACACAGAGGGTGTTTGTAGACGTGGGGGAGGAGAATCTCTATTAACGCCCCCCACCGTAACCACTGCACATCACCTC... |
Task1_train_12151 | This variant lies on Chromosome 7 and affects the gene KCND2 (potassium voltage-gated channel subfamily D member 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Early myoclonic encephalopathy | TTGATCCCTGTCTCTCAGGACTACACTCTCTGAGCATTGAGCTCTCCAAAGCCCCAGAGTAAGCATGGAGTAGTTGGAGCTCAGACACAGCTGGGTAACTTCGGCAATAGTAAGATGGAAAGAACTCCTCCTTGTCCCCCGCCCCAGGAGTGCACTCTAGACAAAGTCTCCATCAGTAAAGAAGAGAAAGTGTACTCATTCAACTAATATGTAGTAGGAGCTGGCCTTATGCTCACGAAACACAAAGTAGAACTGCTCCTGCTTTAGCAATTTTACATTCTAATGTCAGTAGGGTGGATGAGGAGTGAAAAAATAAATCA... | TTGATCCCTGTCTCTCAGGACTACACTCTCTGAGCATTGAGCTCTCCAAAGCCCCAGAGTAAGCATGGAGTAGTTGGAGCTCAGACACAGCTGGGTAACTTCGGCAATAGTAAGATGGAAAGAACTCCTCCTTGTCCCCCGCCCCAGGAGTGCACTCTAGACAAAGTCTCCATCAGTAAAGAAGAGAAAGTGTACTCATTCAACTAATATGTAGTAGGAGCTGGCCTTATGCTCACGAAACACAAAGTAGAACTGCTCCTGCTTTAGCAATTTTACATTCTAATGTCAGTAGGGTGGATGAGGAGTGAAAAAATAAATCA... |
Task1_train_12152 | This is a variant in KCND2 (potassium voltage-gated channel subfamily D member 2), located on Chromosome 7. Is this mutation a likely cause of disease or not? | Pathogenic; Inborn genetic diseases | TTGATCCCTGTCTCTCAGGACTACACTCTCTGAGCATTGAGCTCTCCAAAGCCCCAGAGTAAGCATGGAGTAGTTGGAGCTCAGACACAGCTGGGTAACTTCGGCAATAGTAAGATGGAAAGAACTCCTCCTTGTCCCCCGCCCCAGGAGTGCACTCTAGACAAAGTCTCCATCAGTAAAGAAGAGAAAGTGTACTCATTCAACTAATATGTAGTAGGAGCTGGCCTTATGCTCACGAAACACAAAGTAGAACTGCTCCTGCTTTAGCAATTTTACATTCTAATGTCAGTAGGGTGGATGAGGAGTGAAAAAATAAATCA... | TTGATCCCTGTCTCTCAGGACTACACTCTCTGAGCATTGAGCTCTCCAAAGCCCCAGAGTAAGCATGGAGTAGTTGGAGCTCAGACACAGCTGGGTAACTTCGGCAATAGTAAGATGGAAAGAACTCCTCCTTGTCCCCCGCCCCAGGAGTGCACTCTAGACAAAGTCTCCATCAGTAAAGAAGAGAAAGTGTACTCATTCAACTAATATGTAGTAGGAGCTGGCCTTATGCTCACGAAACACAAAGTAGAACTGCTCCTGCTTTAGCAATTTTACATTCTAATGTCAGTAGGGTGGATGAGGAGTGAAAAAATAAATCA... |
Task1_train_12153 | This variant affects gene TSPAN12 (tetraspanin 12) located on Chromosome 7. Evaluate its biological effect and specify any disease association. | Pathogenic; Exudative vitreoretinopathy 5 | ATTTGACCATTATACAAATAATTCAAACAAAACTCATACATAGCTATCTCAGTTACGTGGGTATTTTAGGTGAAATTACAGGGATTTGGGGTATTGAGGAAGTTATTAAAAGGGATGCTTTTGGCTCTGATTGAACAAGTAATGTACTCAGTTTTCATTAAAATCTATGGAAGATTTTAAACATGGCAGTCAATTTCAAGGATTATATTCCTTAACTCATTTGAAGAGAATTTGAAATTAACTAAGAGACTCATAGTCTCTTAAAAATTAATAAGTTATAAAACTGTGATATGCAAACATTGAAAAGATGAACACAAATG... | ATTTGACCATTATACAAATAATTCAAACAAAACTCATACATAGCTATCTCAGTTACGTGGGTATTTTAGGTGAAATTACAGGGATTTGGGGTATTGAGGAAGTTATTAAAAGGGATGCTTTTGGCTCTGATTGAACAAGTAATGTACTCAGTTTTCATTAAAATCTATGGAAGATTTTAAACATGGCAGTCAATTTCAAGGATTATATTCCTTAACTCATTTGAAGAGAATTTGAAATTAACTAAGAGACTCATAGTCTCTTAAAAATTAATAAGTTATAAAACTGTGATATGCAAACATTGAAAAGATGAACACAAATG... |
Task1_train_12154 | Consider a variant on Chromosome 7 in gene TSPAN12 (tetraspanin 12). Determine its clinical classification and disease relevance. | Pathogenic; not provided | GAGGAAGTTATTAAAAGGGATGCTTTTGGCTCTGATTGAACAAGTAATGTACTCAGTTTTCATTAAAATCTATGGAAGATTTTAAACATGGCAGTCAATTTCAAGGATTATATTCCTTAACTCATTTGAAGAGAATTTGAAATTAACTAAGAGACTCATAGTCTCTTAAAAATTAATAAGTTATAAAACTGTGATATGCAAACATTGAAAAGATGAACACAAATGGGCATATTTTTATATTATCTCAAACAAGTATATTATTTAACATTTAGGTAAAAAGCAAAAGTGAAAAATGGGCATCTTTTTGACTCTTCTCAGTG... | GAGGAAGTTATTAAAAGGGATGCTTTTGGCTCTGATTGAACAAGTAATGTACTCAGTTTTCATTAAAATCTATGGAAGATTTTAAACATGGCAGTCAATTTCAAGGATTATATTCCTTAACTCATTTGAAGAGAATTTGAAATTAACTAAGAGACTCATAGTCTCTTAAAAATTAATAAGTTATAAAACTGTGATATGCAAACATTGAAAAGATGAACACAAATGGGCATATTTTTATATTATCTCAAACAAGTATATTATTTAACATTTAGGTAAAAAGCAAAAGTGAAAAATGGGCATCTTTTTGACTCTTCTCAGTG... |
Task1_train_12155 | The gene TSPAN12 (tetraspanin 12) on Chromosome 7 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Persistent hyperplastic primary vitreous, autosomal recessive | GCAGTGTGAGCATGACAAAAAGTATTCTGATCATCTTTTAAAATAAAAAGCCTGAATTATTCAACTGTTTGAATAATTCTTGTGATTGGTTGGATTATGTCCTCCCAAAATTCGTATGTTAAAGAGCTTAGTACCTCAGAATGTGATCTTATTGGAACATAGGATTGTTGCAGATGTAACTAAGATGAGGTCCGACTGGAGGACAGTGGGCCCCTTGTCCAATATGACTGTTGTTCTTATAAAATGGGAAAATTTGGAGACACACAGACAAGGAAAACACCATGTGAAGATGAAACAGATCAGGGTGATTTTTCTAAAAG... | GCAGTGTGAGCATGACAAAAAGTATTCTGATCATCTTTTAAAATAAAAAGCCTGAATTATTCAACTGTTTGAATAATTCTTGTGATTGGTTGGATTATGTCCTCCCAAAATTCGTATGTTAAAGAGCTTAGTACCTCAGAATGTGATCTTATTGGAACATAGGATTGTTGCAGATGTAACTAAGATGAGGTCCGACTGGAGGACAGTGGGCCCCTTGTCCAATATGACTGTTGTTCTTATAAAATGGGAAAATTTGGAGACACACAGACAAGGAAAACACCATGTGAAGATGAAACAGATCAGGGTGATTTTTCTAAAAG... |
Task1_train_12156 | Given this context: Chromosome 7, gene TSPAN12 (tetraspanin 12) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Exudative vitreoretinopathy 5 | GCAGTGTGAGCATGACAAAAAGTATTCTGATCATCTTTTAAAATAAAAAGCCTGAATTATTCAACTGTTTGAATAATTCTTGTGATTGGTTGGATTATGTCCTCCCAAAATTCGTATGTTAAAGAGCTTAGTACCTCAGAATGTGATCTTATTGGAACATAGGATTGTTGCAGATGTAACTAAGATGAGGTCCGACTGGAGGACAGTGGGCCCCTTGTCCAATATGACTGTTGTTCTTATAAAATGGGAAAATTTGGAGACACACAGACAAGGAAAACACCATGTGAAGATGAAACAGATCAGGGTGATTTTTCTAAAAG... | GCAGTGTGAGCATGACAAAAAGTATTCTGATCATCTTTTAAAATAAAAAGCCTGAATTATTCAACTGTTTGAATAATTCTTGTGATTGGTTGGATTATGTCCTCCCAAAATTCGTATGTTAAAGAGCTTAGTACCTCAGAATGTGATCTTATTGGAACATAGGATTGTTGCAGATGTAACTAAGATGAGGTCCGACTGGAGGACAGTGGGCCCCTTGTCCAATATGACTGTTGTTCTTATAAAATGGGAAAATTTGGAGACACACAGACAAGGAAAACACCATGTGAAGATGAAACAGATCAGGGTGATTTTTCTAAAAG... |
Task1_train_12157 | This variant affects the gene TSPAN12 (tetraspanin 12) found on Chromosome 7. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Atrophia bulborum hereditaria | GCAGTGTGAGCATGACAAAAAGTATTCTGATCATCTTTTAAAATAAAAAGCCTGAATTATTCAACTGTTTGAATAATTCTTGTGATTGGTTGGATTATGTCCTCCCAAAATTCGTATGTTAAAGAGCTTAGTACCTCAGAATGTGATCTTATTGGAACATAGGATTGTTGCAGATGTAACTAAGATGAGGTCCGACTGGAGGACAGTGGGCCCCTTGTCCAATATGACTGTTGTTCTTATAAAATGGGAAAATTTGGAGACACACAGACAAGGAAAACACCATGTGAAGATGAAACAGATCAGGGTGATTTTTCTAAAAG... | GCAGTGTGAGCATGACAAAAAGTATTCTGATCATCTTTTAAAATAAAAAGCCTGAATTATTCAACTGTTTGAATAATTCTTGTGATTGGTTGGATTATGTCCTCCCAAAATTCGTATGTTAAAGAGCTTAGTACCTCAGAATGTGATCTTATTGGAACATAGGATTGTTGCAGATGTAACTAAGATGAGGTCCGACTGGAGGACAGTGGGCCCCTTGTCCAATATGACTGTTGTTCTTATAAAATGGGAAAATTTGGAGACACACAGACAAGGAAAACACCATGTGAAGATGAAACAGATCAGGGTGATTTTTCTAAAAG... |
Task1_train_12158 | Chromosome 7 houses a mutation in gene TSPAN12 (tetraspanin 12). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | ATAGTACTACTCTTGCTAATGTGTCAAGCTCTAGAAAATACCATCCATTTTACATATGAGTAAACTGAGGCCTTTGACAGTCAAGTAGCTTGCTAAAGTTACAGGCCAGAGTGTGGCACAGTCTATTCCAAAGCCTATGCTCCAACTACTATGTTAAAATAAATAAATAAACACATTTTTTAAAGTTAGTATTCTAAAAACGTATTAAACAAACGTCACTGGGGCTTAAGTGAGAGTCCGCTAAGTTGCGGTATGTGCATAGAATTGCACTGAATGAGGAGCAAAGGAGACTGGCACCTGATAAAGTTGCTTTCTGCAAT... | ATAGTACTACTCTTGCTAATGTGTCAAGCTCTAGAAAATACCATCCATTTTACATATGAGTAAACTGAGGCCTTTGACAGTCAAGTAGCTTGCTAAAGTTACAGGCCAGAGTGTGGCACAGTCTATTCCAAAGCCTATGCTCCAACTACTATGTTAAAATAAATAAATAAACACATTTTTTAAAGTTAGTATTCTAAAAACGTATTAAACAAACGTCACTGGGGCTTAAGTGAGAGTCCGCTAAGTTGCGGTATGTGCATAGAATTGCACTGAATGAGGAGCAAAGGAGACTGGCACCTGATAAAGTTGCTTTCTGCAAT... |
Task1_train_12159 | This genomic variant is located on Chromosome 7, within the TSPAN12 (tetraspanin 12) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not provided | AGAATTTACATGTATAGCATTGTGTATCTGTTGTGGACAGGTATGAGTAAATCTATCTTTGTATGAAACAAAATAAAGAAAAACGTATACAAGATGCTTAACCTGGATTATTTTGTTGAAGCGTAGGTGATATTGGGAGAAGAGGAGGGCTGGAGAAATAGGGAAGCAATCTAAATAAGTCAATAAACCAGAACACACTCACACACACACACCACACACAAACATAGAAAGTTAGAAGGTTTAAGTACAGGGTAACAACAAAGAAATAACGTTTACATTCTCTGGGGACACAAAGAGCCCTGGAAGAGTTTCAGGAATAG... | AGAATTTACATGTATAGCATTGTGTATCTGTTGTGGACAGGTATGAGTAAATCTATCTTTGTATGAAACAAAATAAAGAAAAACGTATACAAGATGCTTAACCTGGATTATTTTGTTGAAGCGTAGGTGATATTGGGAGAAGAGGAGGGCTGGAGAAATAGGGAAGCAATCTAAATAAGTCAATAAACCAGAACACACTCACACACACACACCACACACAAACATAGAAAGTTAGAAGGTTTAAGTACAGGGTAACAACAAAGAAATAACGTTTACATTCTCTGGGGACACAAAGAGCCCTGGAAGAGTTTCAGGAATAG... |
Task1_train_12160 | A variant was discovered on Chromosome 7, affecting AASS (aminoadipate-semialdehyde synthase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Hyperlysinemia | TTCTCAAAGGAAAAGACAATCAATAAAGTTCAACCACAAATTGACCCAGAAAGTTGGAAGTATGAGATGAACATTGTAAAGTGGTTTTTATAACTATGTTCCATGCAATAACGAAAAATACACTCATAATTAATGAAAAGATAGAAACTCTCTGCAGAAAAAGAGAAAATACCAAAACAAAATTTTTAAAAAAGAACCCAATGGAAATTCTAGAACTGAAAATAGAACATCGGAAATTAAAAATGCACAGAAATGTCTGATTAGCAGAATAGAGAATATGAAGACATTTTCAGATAAAGGACAACTAAGAGAATCTGTCA... | TTCTCAAAGGAAAAGACAATCAATAAAGTTCAACCACAAATTGACCCAGAAAGTTGGAAGTATGAGATGAACATTGTAAAGTGGTTTTTATAACTATGTTCCATGCAATAACGAAAAATACACTCATAATTAATGAAAAGATAGAAACTCTCTGCAGAAAAAGAGAAAATACCAAAACAAAATTTTTAAAAAAGAACCCAATGGAAATTCTAGAACTGAAAATAGAACATCGGAAATTAAAAATGCACAGAAATGTCTGATTAGCAGAATAGAGAATATGAAGACATTTTCAGATAAAGGACAACTAAGAGAATCTGTCA... |
Task1_train_12161 | A sequence alteration has been identified in AASS (aminoadipate-semialdehyde synthase) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; Hyperlysinemia | AATAAATGAGGAATTTCAAAACAAAAAACAGAGTAACAGACTAGAGATAGAGATGAGAATGGAGAAACAAGAGAAGACTTCTCTGAGCAAATAGCTTCAGAGCTGCATGGGGCATCACAGAAGACAAAAGAAGAATGTTTCAAGAAGTGGAGGTGGGCTGGGCATGGTGGCTCATGCCTATAATCCCAGTACCTTGGGAAGCCAAGGCAGGAGGTCTGCTTGGGGTCCAGAGATTTAGACCAGCCTGGGAAACATAACAAGACCCCATCTCTAAAGATAAATATATACAATAAAATTTTAAAAAAAAAAGGAGAGATGGT... | AATAAATGAGGAATTTCAAAACAAAAAACAGAGTAACAGACTAGAGATAGAGATGAGAATGGAGAAACAAGAGAAGACTTCTCTGAGCAAATAGCTTCAGAGCTGCATGGGGCATCACAGAAGACAAAAGAAGAATGTTTCAAGAAGTGGAGGTGGGCTGGGCATGGTGGCTCATGCCTATAATCCCAGTACCTTGGGAAGCCAAGGCAGGAGGTCTGCTTGGGGTCCAGAGATTTAGACCAGCCTGGGAAACATAACAAGACCCCATCTCTAAAGATAAATATATACAATAAAATTTTAAAAAAAAAAGGAGAGATGGT... |
Task1_train_12162 | A genetic alteration is present in AASS (aminoadipate-semialdehyde synthase) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hyperlysinemia | TGTTGGAGAAAACAGATGCAAATATAAAATTTTAAAGGTAAAAAGTTGTGCAATGTTAAATTTTAATTTTCCTGGACATTAATTTTTCCTCTGGAGGTCTTTTAGTATCAGTATTAACTCATGATTAAATAATATATATATATATGTGTGGGCAACTGTTTGTGTATATTTCTAAACTCTGTACACTAATAGAGCCTAAGAGCAACAGTATCTCAGTAACAATAAACATGCTTAACATCAGATACCAGATCTTGGTCTCTATATAATAAAAGAAAACAAGTCTTCTTGGTGAAATTATTAATTTCCTGATGTGGGGCAGG... | TGTTGGAGAAAACAGATGCAAATATAAAATTTTAAAGGTAAAAAGTTGTGCAATGTTAAATTTTAATTTTCCTGGACATTAATTTTTCCTCTGGAGGTCTTTTAGTATCAGTATTAACTCATGATTAAATAATATATATATATATGTGTGGGCAACTGTTTGTGTATATTTCTAAACTCTGTACACTAATAGAGCCTAAGAGCAACAGTATCTCAGTAACAATAAACATGCTTAACATCAGATACCAGATCTTGGTCTCTATATAATAAAAGAAAACAAGTCTTCTTGGTGAAATTATTAATTTCCTGATGTGGGGCAGG... |
Task1_train_12163 | This mutation is located in gene FEZF1 (FEZ family zinc finger 1) on Chromosome 7. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hypogonadotropic hypogonadism 22 with anosmia | AAAAAGGCGGAGGGATGAGGGGGTCAGAGTCAGGGATCTTTAGCTGAATAGTATGAACAGAGCCCTAAAGTTTGTTGATTAAATAAGCATGTTCCAAGTATTTATTTCCAACAGTCAATGAATCAATTTTCACGTGCAATAATCAAAACCAAAATTCAAAATCATCCATAATGAACCACCCTTATCTAATGTGTATGGGTGTGTGCTCACGAATGTGGAATGTACCCCTATGGGCGCACACATCTATGCGTGTATATATGACATACACACAGTGTTTTGTTACTTCAGGGAAAGAGGAAATGATCAACATCCAGCAGACA... | AAAAAGGCGGAGGGATGAGGGGGTCAGAGTCAGGGATCTTTAGCTGAATAGTATGAACAGAGCCCTAAAGTTTGTTGATTAAATAAGCATGTTCCAAGTATTTATTTCCAACAGTCAATGAATCAATTTTCACGTGCAATAATCAAAACCAAAATTCAAAATCATCCATAATGAACCACCCTTATCTAATGTGTATGGGTGTGTGCTCACGAATGTGGAATGTACCCCTATGGGCGCACACATCTATGCGTGTATATATGACATACACACAGTGTTTTGTTACTTCAGGGAAAGAGGAAATGATCAACATCCAGCAGACA... |
Task1_train_12164 | This sequence change occurs on Chromosome 7, altering POT1 (protection of telomeres 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 | GAATTTTGGGAGGCTAAGGCAGGAGGATTGCTTGAGACCGGGAGACCAGGAGGTCGAGACCAGTCTGGGCAACATATAGTGAGATCCTGTTTCTACCAAAAAATAAAAAATTAAAAAATTAAGAGTAAAAAAAGCCAGGCATGTTGGCATGTGCAGGACTACAAGTCCTTGCTACTCAGGAGGCTGAGGAGGGAGGATATCACTTGAGCCCAGGAGTTTGAAGCCGCAGTGAGCTATGGTCCTATCACTGCATTCCAGCCTGGTCGCCAGAGCAAGACACTGTCTCTTAAACAAACAAAAACCCAGAAATTAAGACAAAG... | GAATTTTGGGAGGCTAAGGCAGGAGGATTGCTTGAGACCGGGAGACCAGGAGGTCGAGACCAGTCTGGGCAACATATAGTGAGATCCTGTTTCTACCAAAAAATAAAAAATTAAAAAATTAAGAGTAAAAAAAGCCAGGCATGTTGGCATGTGCAGGACTACAAGTCCTTGCTACTCAGGAGGCTGAGGAGGGAGGATATCACTTGAGCCCAGGAGTTTGAAGCCGCAGTGAGCTATGGTCCTATCACTGCATTCCAGCCTGGTCGCCAGAGCAAGACACTGTCTCTTAAACAAACAAAAACCCAGAAATTAAGACAAAG... |
Task1_train_12165 | This gene mutation involves PAX4 (paired box 4) on Chromosome 7. Is it associated with any clinical condition, or is it benign? | Pathogenic; Maturity-onset diabetes of the young type 9 | GCCACCCAAGTAGTATCCTGCACAACTCCAGAGGGCACCATTCACATAGTAGACTTTGGGTTAGTACTTTCTTGACATGAACACTGTGGGGCCCTGGAGAGCCGGAGATCCTGGCTCAGGCCAGAAATGGAAGAGCCCATGAGCCCTTCAGTCTTCCCAGGGCACAGACTCCCCTCTCCTCCCGAGTACCTGTGCAGAGATGATTCCTGGGGCAACCCTTGGTACAGTCAGCCCCTGGGAAGCACCTATAAAATGAGAGTGAATCCACTCAGAAGGAGGAATTGGGGTTAGGGACGGGAGGAGTGTGGTGAGAGGCAGGA... | GCCACCCAAGTAGTATCCTGCACAACTCCAGAGGGCACCATTCACATAGTAGACTTTGGGTTAGTACTTTCTTGACATGAACACTGTGGGGCCCTGGAGAGCCGGAGATCCTGGCTCAGGCCAGAAATGGAAGAGCCCATGAGCCCTTCAGTCTTCCCAGGGCACAGACTCCCCTCTCCTCCCGAGTACCTGTGCAGAGATGATTCCTGGGGCAACCCTTGGTACAGTCAGCCCCTGGGAAGCACCTATAAAATGAGAGTGAATCCACTCAGAAGGAGGAATTGGGGTTAGGGACGGGAGGAGTGTGGTGAGAGGCAGGA... |
Task1_train_12166 | Gene LEP (leptin), found on Chromosome 7, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Obesity due to congenital leptin deficiency | CTAAACCACTCCAAGAACATTTGATTTTGCTACATGTTTCCATTTAAAAATCATAGGATTTGGGCTGGGTGTGGTGGCTTGTACCTGTCATCCCAGCACTTTGGGAGGCCAAAGCAGGAGGATCATTCGAGCCCAAGAGTTCGAGACCAGCCTGGGCAGCATAGGGAGACCCCATCTCTACAAAAATAATAAAAAATGTTAGCTGGGCATGGTGGTGTGTACCTGTGGTCCCAGCTAGGGGAGGCTGAGATGGAAGGATCACCTGAGCCTGGGAGGTTGAGGCTGCAGTGGGCCCTGATCATGCCACCGTGCTCCAGCCT... | CTAAACCACTCCAAGAACATTTGATTTTGCTACATGTTTCCATTTAAAAATCATAGGATTTGGGCTGGGTGTGGTGGCTTGTACCTGTCATCCCAGCACTTTGGGAGGCCAAAGCAGGAGGATCATTCGAGCCCAAGAGTTCGAGACCAGCCTGGGCAGCATAGGGAGACCCCATCTCTACAAAAATAATAAAAAATGTTAGCTGGGCATGGTGGTGTGTACCTGTGGTCCCAGCTAGGGGAGGCTGAGATGGAAGGATCACCTGAGCCTGGGAGGTTGAGGCTGCAGTGGGCCCTGATCATGCCACCGTGCTCCAGCCT... |
Task1_train_12167 | Mutation context: Chromosome 7, Gene LEP (leptin). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Obesity due to congenital leptin deficiency | AACATTTGATTTTGCTACATGTTTCCATTTAAAAATCATAGGATTTGGGCTGGGTGTGGTGGCTTGTACCTGTCATCCCAGCACTTTGGGAGGCCAAAGCAGGAGGATCATTCGAGCCCAAGAGTTCGAGACCAGCCTGGGCAGCATAGGGAGACCCCATCTCTACAAAAATAATAAAAAATGTTAGCTGGGCATGGTGGTGTGTACCTGTGGTCCCAGCTAGGGGAGGCTGAGATGGAAGGATCACCTGAGCCTGGGAGGTTGAGGCTGCAGTGGGCCCTGATCATGCCACCGTGCTCCAGCCTGGGTGACAGAGTGAG... | AACATTTGATTTTGCTACATGTTTCCATTTAAAAATCATAGGATTTGGGCTGGGTGTGGTGGCTTGTACCTGTCATCCCAGCACTTTGGGAGGCCAAAGCAGGAGGATCATTCGAGCCCAAGAGTTCGAGACCAGCCTGGGCAGCATAGGGAGACCCCATCTCTACAAAAATAATAAAAAATGTTAGCTGGGCATGGTGGTGTGTACCTGTGGTCCCAGCTAGGGGAGGCTGAGATGGAAGGATCACCTGAGCCTGGGAGGTTGAGGCTGCAGTGGGCCCTGATCATGCCACCGTGCTCCAGCCTGGGTGACAGAGTGAG... |
Task1_train_12168 | A variant was discovered on Chromosome 7, affecting LEP (leptin). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Leptin dysfunction | CATTCGAGCCCAAGAGTTCGAGACCAGCCTGGGCAGCATAGGGAGACCCCATCTCTACAAAAATAATAAAAAATGTTAGCTGGGCATGGTGGTGTGTACCTGTGGTCCCAGCTAGGGGAGGCTGAGATGGAAGGATCACCTGAGCCTGGGAGGTTGAGGCTGCAGTGGGCCCTGATCATGCCACCGTGCTCCAGCCTGGGTGACAGAGTGAGACCTTGTCTCAAAATAAATAAATAAATAAATAAAAGTCATAGGATTTGATCAGGCATGATGGGTCACATCTGTAAGCCCATTGCTTTAGGAGGCCAAGGTAGGAGGAT... | CATTCGAGCCCAAGAGTTCGAGACCAGCCTGGGCAGCATAGGGAGACCCCATCTCTACAAAAATAATAAAAAATGTTAGCTGGGCATGGTGGTGTGTACCTGTGGTCCCAGCTAGGGGAGGCTGAGATGGAAGGATCACCTGAGCCTGGGAGGTTGAGGCTGCAGTGGGCCCTGATCATGCCACCGTGCTCCAGCCTGGGTGACAGAGTGAGACCTTGTCTCAAAATAAATAAATAAATAAATAAAAGTCATAGGATTTGATCAGGCATGATGGGTCACATCTGTAAGCCCATTGCTTTAGGAGGCCAAGGTAGGAGGAT... |
Task1_train_12169 | Given this context: Chromosome 7, gene LEP (leptin) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Obesity due to congenital leptin deficiency | GTTCGAGACCAGCCTGGGCAGCATAGGGAGACCCCATCTCTACAAAAATAATAAAAAATGTTAGCTGGGCATGGTGGTGTGTACCTGTGGTCCCAGCTAGGGGAGGCTGAGATGGAAGGATCACCTGAGCCTGGGAGGTTGAGGCTGCAGTGGGCCCTGATCATGCCACCGTGCTCCAGCCTGGGTGACAGAGTGAGACCTTGTCTCAAAATAAATAAATAAATAAATAAAAGTCATAGGATTTGATCAGGCATGATGGGTCACATCTGTAAGCCCATTGCTTTAGGAGGCCAAGGTAGGAGGATCAGTTGAGGCCAGGA... | GTTCGAGACCAGCCTGGGCAGCATAGGGAGACCCCATCTCTACAAAAATAATAAAAAATGTTAGCTGGGCATGGTGGTGTGTACCTGTGGTCCCAGCTAGGGGAGGCTGAGATGGAAGGATCACCTGAGCCTGGGAGGTTGAGGCTGCAGTGGGCCCTGATCATGCCACCGTGCTCCAGCCTGGGTGACAGAGTGAGACCTTGTCTCAAAATAAATAAATAAATAAATAAAAGTCATAGGATTTGATCAGGCATGATGGGTCACATCTGTAAGCCCATTGCTTTAGGAGGCCAAGGTAGGAGGATCAGTTGAGGCCAGGA... |
Task1_train_12170 | The variant affects gene RBM28 (RNA binding motif protein 28), which is on Chromosome 7. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; ANE syndrome | ACGGTAGTTAAATGATTTGCCAAAAATCACCCAGTCTATCTGTAGCATAGCTGGGATTAGATCTCTAACTCTGTTCCACAGTGCTGCCTTATTCACATCTTTTTTTTTTTTTTTTTAAAGAGATGGAGGCGGTCTTGTTCTGTCTCACAGTCTCGAGTGCAGTGGCAATCATAGCTCACTGAAGCCTCTAACTCCTGGGCTCCCCGCAGCCTCCTGAGTAGCTGGGATTTCAGGCACACACCAGGTCTTAAACTTTTTTTTTTCTTTTTGAGACGGAGTCTTGCTCTTGTTGCCCAGGCTAGAGTGCAGTGGCACGATCT... | ACGGTAGTTAAATGATTTGCCAAAAATCACCCAGTCTATCTGTAGCATAGCTGGGATTAGATCTCTAACTCTGTTCCACAGTGCTGCCTTATTCACATCTTTTTTTTTTTTTTTTTAAAGAGATGGAGGCGGTCTTGTTCTGTCTCACAGTCTCGAGTGCAGTGGCAATCATAGCTCACTGAAGCCTCTAACTCCTGGGCTCCCCGCAGCCTCCTGAGTAGCTGGGATTTCAGGCACACACCAGGTCTTAAACTTTTTTTTTTCTTTTTGAGACGGAGTCTTGCTCTTGTTGCCCAGGCTAGAGTGCAGTGGCACGATCT... |
Task1_train_12171 | The following genetic variant occurs in IMPDH1 (inosine monophosphate dehydrogenase 1) on Chromosome 7. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Retinitis pigmentosa 10 | CGATGGGGTGGGGCCCATGCCTGGGTCACCCCGGAGCCTACCATGGCAGAACAGGGCCTGGCAGAGAGAGTACTTGATATACATCTGGGGAACAAAGGCGAGGCCCCGGGGCCAGCGGGCACTCGCTCACCTCCTGACACCCACCTTCCTGGGTGATGCAGATGGAGCCGCAGCCCATGCCCACGCGCAGCCCGTCCACACCAGCATCAATCAGGTTCTTGGCCTGGGCTGCTGTCACCACTGGGGGTGGGGATGGGGCAGAGGAACAATGTGAGGATGGGATGCCCCTGCCTGCCCAACAGCCTCTTGGGACCCCAGTC... | CGATGGGGTGGGGCCCATGCCTGGGTCACCCCGGAGCCTACCATGGCAGAACAGGGCCTGGCAGAGAGAGTACTTGATATACATCTGGGGAACAAAGGCGAGGCCCCGGGGCCAGCGGGCACTCGCTCACCTCCTGACACCCACCTTCCTGGGTGATGCAGATGGAGCCGCAGCCCATGCCCACGCGCAGCCCGTCCACACCAGCATCAATCAGGTTCTTGGCCTGGGCTGCTGTCACCACTGGGGGTGGGGATGGGGCAGAGGAACAATGTGAGGATGGGATGCCCCTGCCTGCCCAACAGCCTCTTGGGACCCCAGTC... |
Task1_train_12172 | This sequence change occurs on Chromosome 7, altering IMPDH1 (inosine monophosphate dehydrogenase 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Retinitis pigmentosa 10 | ATGGCAGAACAGGGCCTGGCAGAGAGAGTACTTGATATACATCTGGGGAACAAAGGCGAGGCCCCGGGGCCAGCGGGCACTCGCTCACCTCCTGACACCCACCTTCCTGGGTGATGCAGATGGAGCCGCAGCCCATGCCCACGCGCAGCCCGTCCACACCAGCATCAATCAGGTTCTTGGCCTGGGCTGCTGTCACCACTGGGGGTGGGGATGGGGCAGAGGAACAATGTGAGGATGGGATGCCCCTGCCTGCCCAACAGCCTCTTGGGACCCCAGTCTAGCACCCCCCAACCCCCCTACAGTGACCAAAGCCCATCATG... | ATGGCAGAACAGGGCCTGGCAGAGAGAGTACTTGATATACATCTGGGGAACAAAGGCGAGGCCCCGGGGCCAGCGGGCACTCGCTCACCTCCTGACACCCACCTTCCTGGGTGATGCAGATGGAGCCGCAGCCCATGCCCACGCGCAGCCCGTCCACACCAGCATCAATCAGGTTCTTGGCCTGGGCTGCTGTCACCACTGGGGGTGGGGATGGGGCAGAGGAACAATGTGAGGATGGGATGCCCCTGCCTGCCCAACAGCCTCTTGGGACCCCAGTCTAGCACCCCCCAACCCCCCTACAGTGACCAAAGCCCATCATG... |
Task1_train_12173 | A mutation found in IMPDH1 (inosine monophosphate dehydrogenase 1) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | AGGGCCTGGCAGAGAGAGTACTTGATATACATCTGGGGAACAAAGGCGAGGCCCCGGGGCCAGCGGGCACTCGCTCACCTCCTGACACCCACCTTCCTGGGTGATGCAGATGGAGCCGCAGCCCATGCCCACGCGCAGCCCGTCCACACCAGCATCAATCAGGTTCTTGGCCTGGGCTGCTGTCACCACTGGGGGTGGGGATGGGGCAGAGGAACAATGTGAGGATGGGATGCCCCTGCCTGCCCAACAGCCTCTTGGGACCCCAGTCTAGCACCCCCCAACCCCCCTACAGTGACCAAAGCCCATCATGCTCCCTGCCA... | AGGGCCTGGCAGAGAGAGTACTTGATATACATCTGGGGAACAAAGGCGAGGCCCCGGGGCCAGCGGGCACTCGCTCACCTCCTGACACCCACCTTCCTGGGTGATGCAGATGGAGCCGCAGCCCATGCCCACGCGCAGCCCGTCCACACCAGCATCAATCAGGTTCTTGGCCTGGGCTGCTGTCACCACTGGGGGTGGGGATGGGGCAGAGGAACAATGTGAGGATGGGATGCCCCTGCCTGCCCAACAGCCTCTTGGGACCCCAGTCTAGCACCCCCCAACCCCCCTACAGTGACCAAAGCCCATCATGCTCCCTGCCA... |
Task1_train_12174 | With a mutation on Chromosome 7 in gene IMPDH1 (inosine monophosphate dehydrogenase 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Retinitis pigmentosa 10 | GGGCCTGGCAGAGAGAGTACTTGATATACATCTGGGGAACAAAGGCGAGGCCCCGGGGCCAGCGGGCACTCGCTCACCTCCTGACACCCACCTTCCTGGGTGATGCAGATGGAGCCGCAGCCCATGCCCACGCGCAGCCCGTCCACACCAGCATCAATCAGGTTCTTGGCCTGGGCTGCTGTCACCACTGGGGGTGGGGATGGGGCAGAGGAACAATGTGAGGATGGGATGCCCCTGCCTGCCCAACAGCCTCTTGGGACCCCAGTCTAGCACCCCCCAACCCCCCTACAGTGACCAAAGCCCATCATGCTCCCTGCCAC... | GGGCCTGGCAGAGAGAGTACTTGATATACATCTGGGGAACAAAGGCGAGGCCCCGGGGCCAGCGGGCACTCGCTCACCTCCTGACACCCACCTTCCTGGGTGATGCAGATGGAGCCGCAGCCCATGCCCACGCGCAGCCCGTCCACACCAGCATCAATCAGGTTCTTGGCCTGGGCTGCTGTCACCACTGGGGGTGGGGATGGGGCAGAGGAACAATGTGAGGATGGGATGCCCCTGCCTGCCCAACAGCCTCTTGGGACCCCAGTCTAGCACCCCCCAACCCCCCTACAGTGACCAAAGCCCATCATGCTCCCTGCCAC... |
Task1_train_12175 | Mutation context: Chromosome 7, Gene IMPDH1 (inosine monophosphate dehydrogenase 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Retinal dystrophy | GGGCCTGGCAGAGAGAGTACTTGATATACATCTGGGGAACAAAGGCGAGGCCCCGGGGCCAGCGGGCACTCGCTCACCTCCTGACACCCACCTTCCTGGGTGATGCAGATGGAGCCGCAGCCCATGCCCACGCGCAGCCCGTCCACACCAGCATCAATCAGGTTCTTGGCCTGGGCTGCTGTCACCACTGGGGGTGGGGATGGGGCAGAGGAACAATGTGAGGATGGGATGCCCCTGCCTGCCCAACAGCCTCTTGGGACCCCAGTCTAGCACCCCCCAACCCCCCTACAGTGACCAAAGCCCATCATGCTCCCTGCCAC... | GGGCCTGGCAGAGAGAGTACTTGATATACATCTGGGGAACAAAGGCGAGGCCCCGGGGCCAGCGGGCACTCGCTCACCTCCTGACACCCACCTTCCTGGGTGATGCAGATGGAGCCGCAGCCCATGCCCACGCGCAGCCCGTCCACACCAGCATCAATCAGGTTCTTGGCCTGGGCTGCTGTCACCACTGGGGGTGGGGATGGGGCAGAGGAACAATGTGAGGATGGGATGCCCCTGCCTGCCCAACAGCCTCTTGGGACCCCAGTCTAGCACCCCCCAACCCCCCTACAGTGACCAAAGCCCATCATGCTCCCTGCCAC... |
Task1_train_12176 | Here is a genetic alteration in IMPDH1 (inosine monophosphate dehydrogenase 1) on Chromosome 7. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Retinal dystrophy | TGGCAGAGAGAGTACTTGATATACATCTGGGGAACAAAGGCGAGGCCCCGGGGCCAGCGGGCACTCGCTCACCTCCTGACACCCACCTTCCTGGGTGATGCAGATGGAGCCGCAGCCCATGCCCACGCGCAGCCCGTCCACACCAGCATCAATCAGGTTCTTGGCCTGGGCTGCTGTCACCACTGGGGGTGGGGATGGGGCAGAGGAACAATGTGAGGATGGGATGCCCCTGCCTGCCCAACAGCCTCTTGGGACCCCAGTCTAGCACCCCCCAACCCCCCTACAGTGACCAAAGCCCATCATGCTCCCTGCCACCCATG... | TGGCAGAGAGAGTACTTGATATACATCTGGGGAACAAAGGCGAGGCCCCGGGGCCAGCGGGCACTCGCTCACCTCCTGACACCCACCTTCCTGGGTGATGCAGATGGAGCCGCAGCCCATGCCCACGCGCAGCCCGTCCACACCAGCATCAATCAGGTTCTTGGCCTGGGCTGCTGTCACCACTGGGGGTGGGGATGGGGCAGAGGAACAATGTGAGGATGGGATGCCCCTGCCTGCCCAACAGCCTCTTGGGACCCCAGTCTAGCACCCCCCAACCCCCCTACAGTGACCAAAGCCCATCATGCTCCCTGCCACCCATG... |
Task1_train_12177 | Given this context: Chromosome 7, gene IMPDH1 (inosine monophosphate dehydrogenase 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Leber congenital amaurosis 11 | TTTCTTATGGCTGTGCCACTGGAGAATTTTAACTTGTTTGTTTTCTTTCTTTGTATCTCAGATGACACAAACCATTGTTTGTTTTTTGAGAAAGGGTCTCGTTCTGTCCCCAGGGCTGGAGTGCAGTGGCACGATCCTAGCTCACTGTGACCTTGAACCTCTGAGCTCAGGCAATCCTGCTGCCACCCTCCTAATTCTGACACCAGGGAGCACTCAGAAAGAGAGAGGAAGAGTAGCAAGGGAGGGGCACAGGCTTAATCAGAGGTGAACCTGGGTCCTCATAAACCTCCACTCTGCTGAACCACTCATCCATCTCCCCC... | TTTCTTATGGCTGTGCCACTGGAGAATTTTAACTTGTTTGTTTTCTTTCTTTGTATCTCAGATGACACAAACCATTGTTTGTTTTTTGAGAAAGGGTCTCGTTCTGTCCCCAGGGCTGGAGTGCAGTGGCACGATCCTAGCTCACTGTGACCTTGAACCTCTGAGCTCAGGCAATCCTGCTGCCACCCTCCTAATTCTGACACCAGGGAGCACTCAGAAAGAGAGAGGAAGAGTAGCAAGGGAGGGGCACAGGCTTAATCAGAGGTGAACCTGGGTCCTCATAAACCTCCACTCTGCTGAACCACTCATCCATCTCCCCC... |
Task1_train_12178 | A variant found in Chromosome 7 affects IMPDH1 (inosine monophosphate dehydrogenase 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | TTTCTTATGGCTGTGCCACTGGAGAATTTTAACTTGTTTGTTTTCTTTCTTTGTATCTCAGATGACACAAACCATTGTTTGTTTTTTGAGAAAGGGTCTCGTTCTGTCCCCAGGGCTGGAGTGCAGTGGCACGATCCTAGCTCACTGTGACCTTGAACCTCTGAGCTCAGGCAATCCTGCTGCCACCCTCCTAATTCTGACACCAGGGAGCACTCAGAAAGAGAGAGGAAGAGTAGCAAGGGAGGGGCACAGGCTTAATCAGAGGTGAACCTGGGTCCTCATAAACCTCCACTCTGCTGAACCACTCATCCATCTCCCCC... | TTTCTTATGGCTGTGCCACTGGAGAATTTTAACTTGTTTGTTTTCTTTCTTTGTATCTCAGATGACACAAACCATTGTTTGTTTTTTGAGAAAGGGTCTCGTTCTGTCCCCAGGGCTGGAGTGCAGTGGCACGATCCTAGCTCACTGTGACCTTGAACCTCTGAGCTCAGGCAATCCTGCTGCCACCCTCCTAATTCTGACACCAGGGAGCACTCAGAAAGAGAGAGGAAGAGTAGCAAGGGAGGGGCACAGGCTTAATCAGAGGTGAACCTGGGTCCTCATAAACCTCCACTCTGCTGAACCACTCATCCATCTCCCCC... |
Task1_train_12179 | The gene FLNC (filamin C) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Hypertrophic cardiomyopathy 26 | GCCCAGCCCTCTCCTCCCCCTCCATTTGAGGCCTGGGGTGGCCTCGGGAACTAGCTGTCTGGCTCCTCCCACTCCTTTGGGGGTATCCCTAGGCAGATGGAGAAGTGGCTTGGTGAGCCCTGGTGGCGCTGAGCTCCTCTCCTCTGCCTGGCCTCCGAGAGGGAGGAGGGAGAGGGAGGTCATTGCTTCCAGAGTGGGACTTGGGGCCCCACTGCCCTTCTCCTGCCCCAAGCCTGGACCACTTGCTGTCTGGCCCAGGGCCAGTTGCTGGGGAGAAACTTCCCTCTCCAGCAAATATGAATGACCACCCTCCCCATATA... | GCCCAGCCCTCTCCTCCCCCTCCATTTGAGGCCTGGGGTGGCCTCGGGAACTAGCTGTCTGGCTCCTCCCACTCCTTTGGGGGTATCCCTAGGCAGATGGAGAAGTGGCTTGGTGAGCCCTGGTGGCGCTGAGCTCCTCTCCTCTGCCTGGCCTCCGAGAGGGAGGAGGGAGAGGGAGGTCATTGCTTCCAGAGTGGGACTTGGGGCCCCACTGCCCTTCTCCTGCCCCAAGCCTGGACCACTTGCTGTCTGGCCCAGGGCCAGTTGCTGGGGAGAAACTTCCCTCTCCAGCAAATATGAATGACCACCCTCCCCATATA... |
Task1_train_12180 | This variant lies on Chromosome 7 and affects the gene FLNC (filamin C). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Distal myopathy with posterior leg and anterior hand involvement | GGGGCCTCGCAGGAGGGAGAGGGTCAGGTAGGCAGAGACTAGAGGCCTGACCCCAGAGCTCTGGCCCGAGGAGCTGCGCAGGTGAGGGAGGGTGCTCTGGGGCAGTGGAGGGTGGGGCGCCCCTGAGCCCGTCTGTGCCCTCCCCTCTGCAGACAGCAAGGCCATCGTGGATGGGAACCTGAAGCTGATCCTGGGCCTGATCTGGACGCTGATCCTGCACTACTCCATCTCCATGCCCATGTGGGAGGATGAAGATGATGAGGATGCCCGCAAACAGACGCCCAAGCAGCGGCTGCTTGGCTGGATCCAGAACAAGGTGC... | GGGGCCTCGCAGGAGGGAGAGGGTCAGGTAGGCAGAGACTAGAGGCCTGACCCCAGAGCTCTGGCCCGAGGAGCTGCGCAGGTGAGGGAGGGTGCTCTGGGGCAGTGGAGGGTGGGGCGCCCCTGAGCCCGTCTGTGCCCTCCCCTCTGCAGACAGCAAGGCCATCGTGGATGGGAACCTGAAGCTGATCCTGGGCCTGATCTGGACGCTGATCCTGCACTACTCCATCTCCATGCCCATGTGGGAGGATGAAGATGATGAGGATGCCCGCAAACAGACGCCCAAGCAGCGGCTGCTTGGCTGGATCCAGAACAAGGTGC... |
Task1_train_12181 | The gene FLNC (filamin C), on Chromosome 7, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hypertrophic cardiomyopathy 26 | GGGGCCTCGCAGGAGGGAGAGGGTCAGGTAGGCAGAGACTAGAGGCCTGACCCCAGAGCTCTGGCCCGAGGAGCTGCGCAGGTGAGGGAGGGTGCTCTGGGGCAGTGGAGGGTGGGGCGCCCCTGAGCCCGTCTGTGCCCTCCCCTCTGCAGACAGCAAGGCCATCGTGGATGGGAACCTGAAGCTGATCCTGGGCCTGATCTGGACGCTGATCCTGCACTACTCCATCTCCATGCCCATGTGGGAGGATGAAGATGATGAGGATGCCCGCAAACAGACGCCCAAGCAGCGGCTGCTTGGCTGGATCCAGAACAAGGTGC... | GGGGCCTCGCAGGAGGGAGAGGGTCAGGTAGGCAGAGACTAGAGGCCTGACCCCAGAGCTCTGGCCCGAGGAGCTGCGCAGGTGAGGGAGGGTGCTCTGGGGCAGTGGAGGGTGGGGCGCCCCTGAGCCCGTCTGTGCCCTCCCCTCTGCAGACAGCAAGGCCATCGTGGATGGGAACCTGAAGCTGATCCTGGGCCTGATCTGGACGCTGATCCTGCACTACTCCATCTCCATGCCCATGTGGGAGGATGAAGATGATGAGGATGCCCGCAAACAGACGCCCAAGCAGCGGCTGCTTGGCTGGATCCAGAACAAGGTGC... |
Task1_train_12182 | This gene mutation involves FLNC (filamin C) on Chromosome 7. Is it associated with any clinical condition, or is it benign? | Pathogenic; Dilated Cardiomyopathy, Dominant | GGGGCCTCGCAGGAGGGAGAGGGTCAGGTAGGCAGAGACTAGAGGCCTGACCCCAGAGCTCTGGCCCGAGGAGCTGCGCAGGTGAGGGAGGGTGCTCTGGGGCAGTGGAGGGTGGGGCGCCCCTGAGCCCGTCTGTGCCCTCCCCTCTGCAGACAGCAAGGCCATCGTGGATGGGAACCTGAAGCTGATCCTGGGCCTGATCTGGACGCTGATCCTGCACTACTCCATCTCCATGCCCATGTGGGAGGATGAAGATGATGAGGATGCCCGCAAACAGACGCCCAAGCAGCGGCTGCTTGGCTGGATCCAGAACAAGGTGC... | GGGGCCTCGCAGGAGGGAGAGGGTCAGGTAGGCAGAGACTAGAGGCCTGACCCCAGAGCTCTGGCCCGAGGAGCTGCGCAGGTGAGGGAGGGTGCTCTGGGGCAGTGGAGGGTGGGGCGCCCCTGAGCCCGTCTGTGCCCTCCCCTCTGCAGACAGCAAGGCCATCGTGGATGGGAACCTGAAGCTGATCCTGGGCCTGATCTGGACGCTGATCCTGCACTACTCCATCTCCATGCCCATGTGGGAGGATGAAGATGATGAGGATGCCCGCAAACAGACGCCCAAGCAGCGGCTGCTTGGCTGGATCCAGAACAAGGTGC... |
Task1_train_12183 | Chromosome 7 houses a mutation in gene FLNC (filamin C). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Myofibrillar myopathy 5 | GGGGCCTCGCAGGAGGGAGAGGGTCAGGTAGGCAGAGACTAGAGGCCTGACCCCAGAGCTCTGGCCCGAGGAGCTGCGCAGGTGAGGGAGGGTGCTCTGGGGCAGTGGAGGGTGGGGCGCCCCTGAGCCCGTCTGTGCCCTCCCCTCTGCAGACAGCAAGGCCATCGTGGATGGGAACCTGAAGCTGATCCTGGGCCTGATCTGGACGCTGATCCTGCACTACTCCATCTCCATGCCCATGTGGGAGGATGAAGATGATGAGGATGCCCGCAAACAGACGCCCAAGCAGCGGCTGCTTGGCTGGATCCAGAACAAGGTGC... | GGGGCCTCGCAGGAGGGAGAGGGTCAGGTAGGCAGAGACTAGAGGCCTGACCCCAGAGCTCTGGCCCGAGGAGCTGCGCAGGTGAGGGAGGGTGCTCTGGGGCAGTGGAGGGTGGGGCGCCCCTGAGCCCGTCTGTGCCCTCCCCTCTGCAGACAGCAAGGCCATCGTGGATGGGAACCTGAAGCTGATCCTGGGCCTGATCTGGACGCTGATCCTGCACTACTCCATCTCCATGCCCATGTGGGAGGATGAAGATGATGAGGATGCCCGCAAACAGACGCCCAAGCAGCGGCTGCTTGGCTGGATCCAGAACAAGGTGC... |
Task1_train_12184 | A variant affecting Chromosome 7, within the gene FLNC (filamin C), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Distal myopathy with posterior leg and anterior hand involvement | GGGGCCTCGCAGGAGGGAGAGGGTCAGGTAGGCAGAGACTAGAGGCCTGACCCCAGAGCTCTGGCCCGAGGAGCTGCGCAGGTGAGGGAGGGTGCTCTGGGGCAGTGGAGGGTGGGGCGCCCCTGAGCCCGTCTGTGCCCTCCCCTCTGCAGACAGCAAGGCCATCGTGGATGGGAACCTGAAGCTGATCCTGGGCCTGATCTGGACGCTGATCCTGCACTACTCCATCTCCATGCCCATGTGGGAGGATGAAGATGATGAGGATGCCCGCAAACAGACGCCCAAGCAGCGGCTGCTTGGCTGGATCCAGAACAAGGTGC... | GGGGCCTCGCAGGAGGGAGAGGGTCAGGTAGGCAGAGACTAGAGGCCTGACCCCAGAGCTCTGGCCCGAGGAGCTGCGCAGGTGAGGGAGGGTGCTCTGGGGCAGTGGAGGGTGGGGCGCCCCTGAGCCCGTCTGTGCCCTCCCCTCTGCAGACAGCAAGGCCATCGTGGATGGGAACCTGAAGCTGATCCTGGGCCTGATCTGGACGCTGATCCTGCACTACTCCATCTCCATGCCCATGTGGGAGGATGAAGATGATGAGGATGCCCGCAAACAGACGCCCAAGCAGCGGCTGCTTGGCTGGATCCAGAACAAGGTGC... |
Task1_train_12185 | This variant impacts the gene FLNC (filamin C) on Chromosome 7. Is the change likely to result in a pathogenic outcome? | Pathogenic; Distal myopathy with posterior leg and anterior hand involvement | GGGCCTCGCAGGAGGGAGAGGGTCAGGTAGGCAGAGACTAGAGGCCTGACCCCAGAGCTCTGGCCCGAGGAGCTGCGCAGGTGAGGGAGGGTGCTCTGGGGCAGTGGAGGGTGGGGCGCCCCTGAGCCCGTCTGTGCCCTCCCCTCTGCAGACAGCAAGGCCATCGTGGATGGGAACCTGAAGCTGATCCTGGGCCTGATCTGGACGCTGATCCTGCACTACTCCATCTCCATGCCCATGTGGGAGGATGAAGATGATGAGGATGCCCGCAAACAGACGCCCAAGCAGCGGCTGCTTGGCTGGATCCAGAACAAGGTGCC... | GGGCCTCGCAGGAGGGAGAGGGTCAGGTAGGCAGAGACTAGAGGCCTGACCCCAGAGCTCTGGCCCGAGGAGCTGCGCAGGTGAGGGAGGGTGCTCTGGGGCAGTGGAGGGTGGGGCGCCCCTGAGCCCGTCTGTGCCCTCCCCTCTGCAGACAGCAAGGCCATCGTGGATGGGAACCTGAAGCTGATCCTGGGCCTGATCTGGACGCTGATCCTGCACTACTCCATCTCCATGCCCATGTGGGAGGATGAAGATGATGAGGATGCCCGCAAACAGACGCCCAAGCAGCGGCTGCTTGGCTGGATCCAGAACAAGGTGCC... |
Task1_train_12186 | Mutation context: Chromosome 7, Gene FLNC (filamin C). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Myofibrillar myopathy 5 | TCAGCCCCACCCCATCCTCTCTCAGGGGTGAGGCAGGAGCAGACCCCCTCCAGGACCCCAGATTGGCCCCTGTAGCTCGTTTCTCCTCAGCTGGGTCCCCAGCGGCCTGCCCTCTTTCCTCCCTGTCCCCCCATTCAGCTACTCCCTCATCCTCACTCACTGGTCTTATGAAGCTGATGGGGGGATGTTATCTCTCAGGGGAGCGGGCACCGGGGGCCTTGGCCTAGCCATCGAGGGTCCCTCGGAAGCCAAGATGTCCTGCAAGGACAACAAGGATGGTAGCTGCACCGTGGAGTACATCCCCTTCACTCCTGGAGACT... | TCAGCCCCACCCCATCCTCTCTCAGGGGTGAGGCAGGAGCAGACCCCCTCCAGGACCCCAGATTGGCCCCTGTAGCTCGTTTCTCCTCAGCTGGGTCCCCAGCGGCCTGCCCTCTTTCCTCCCTGTCCCCCCATTCAGCTACTCCCTCATCCTCACTCACTGGTCTTATGAAGCTGATGGGGGGATGTTATCTCTCAGGGGAGCGGGCACCGGGGGCCTTGGCCTAGCCATCGAGGGTCCCTCGGAAGCCAAGATGTCCTGCAAGGACAACAAGGATGGTAGCTGCACCGTGGAGTACATCCCCTTCACTCCTGGAGACT... |
Task1_train_12187 | Gene FLNC (filamin C), found on Chromosome 7, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Dilated Cardiomyopathy, Dominant | TCAGCCCCACCCCATCCTCTCTCAGGGGTGAGGCAGGAGCAGACCCCCTCCAGGACCCCAGATTGGCCCCTGTAGCTCGTTTCTCCTCAGCTGGGTCCCCAGCGGCCTGCCCTCTTTCCTCCCTGTCCCCCCATTCAGCTACTCCCTCATCCTCACTCACTGGTCTTATGAAGCTGATGGGGGGATGTTATCTCTCAGGGGAGCGGGCACCGGGGGCCTTGGCCTAGCCATCGAGGGTCCCTCGGAAGCCAAGATGTCCTGCAAGGACAACAAGGATGGTAGCTGCACCGTGGAGTACATCCCCTTCACTCCTGGAGACT... | TCAGCCCCACCCCATCCTCTCTCAGGGGTGAGGCAGGAGCAGACCCCCTCCAGGACCCCAGATTGGCCCCTGTAGCTCGTTTCTCCTCAGCTGGGTCCCCAGCGGCCTGCCCTCTTTCCTCCCTGTCCCCCCATTCAGCTACTCCCTCATCCTCACTCACTGGTCTTATGAAGCTGATGGGGGGATGTTATCTCTCAGGGGAGCGGGCACCGGGGGCCTTGGCCTAGCCATCGAGGGTCCCTCGGAAGCCAAGATGTCCTGCAAGGACAACAAGGATGGTAGCTGCACCGTGGAGTACATCCCCTTCACTCCTGGAGACT... |
Task1_train_12188 | A sequence alteration has been identified in FLNC (filamin C) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; Hypertrophic cardiomyopathy 26 | TCAGCCCCACCCCATCCTCTCTCAGGGGTGAGGCAGGAGCAGACCCCCTCCAGGACCCCAGATTGGCCCCTGTAGCTCGTTTCTCCTCAGCTGGGTCCCCAGCGGCCTGCCCTCTTTCCTCCCTGTCCCCCCATTCAGCTACTCCCTCATCCTCACTCACTGGTCTTATGAAGCTGATGGGGGGATGTTATCTCTCAGGGGAGCGGGCACCGGGGGCCTTGGCCTAGCCATCGAGGGTCCCTCGGAAGCCAAGATGTCCTGCAAGGACAACAAGGATGGTAGCTGCACCGTGGAGTACATCCCCTTCACTCCTGGAGACT... | TCAGCCCCACCCCATCCTCTCTCAGGGGTGAGGCAGGAGCAGACCCCCTCCAGGACCCCAGATTGGCCCCTGTAGCTCGTTTCTCCTCAGCTGGGTCCCCAGCGGCCTGCCCTCTTTCCTCCCTGTCCCCCCATTCAGCTACTCCCTCATCCTCACTCACTGGTCTTATGAAGCTGATGGGGGGATGTTATCTCTCAGGGGAGCGGGCACCGGGGGCCTTGGCCTAGCCATCGAGGGTCCCTCGGAAGCCAAGATGTCCTGCAAGGACAACAAGGATGGTAGCTGCACCGTGGAGTACATCCCCTTCACTCCTGGAGACT... |
Task1_train_12189 | Gene FLNC (filamin C) on Chromosome 7 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Distal myopathy with posterior leg and anterior hand involvement | TCAGCCCCACCCCATCCTCTCTCAGGGGTGAGGCAGGAGCAGACCCCCTCCAGGACCCCAGATTGGCCCCTGTAGCTCGTTTCTCCTCAGCTGGGTCCCCAGCGGCCTGCCCTCTTTCCTCCCTGTCCCCCCATTCAGCTACTCCCTCATCCTCACTCACTGGTCTTATGAAGCTGATGGGGGGATGTTATCTCTCAGGGGAGCGGGCACCGGGGGCCTTGGCCTAGCCATCGAGGGTCCCTCGGAAGCCAAGATGTCCTGCAAGGACAACAAGGATGGTAGCTGCACCGTGGAGTACATCCCCTTCACTCCTGGAGACT... | TCAGCCCCACCCCATCCTCTCTCAGGGGTGAGGCAGGAGCAGACCCCCTCCAGGACCCCAGATTGGCCCCTGTAGCTCGTTTCTCCTCAGCTGGGTCCCCAGCGGCCTGCCCTCTTTCCTCCCTGTCCCCCCATTCAGCTACTCCCTCATCCTCACTCACTGGTCTTATGAAGCTGATGGGGGGATGTTATCTCTCAGGGGAGCGGGCACCGGGGGCCTTGGCCTAGCCATCGAGGGTCCCTCGGAAGCCAAGATGTCCTGCAAGGACAACAAGGATGGTAGCTGCACCGTGGAGTACATCCCCTTCACTCCTGGAGACT... |
Task1_train_12190 | This variant affects gene FLNC (filamin C) located on Chromosome 7. Evaluate its biological effect and specify any disease association. | Pathogenic; Hypertrophic cardiomyopathy 26 | TCAGGGGTGAGGCAGGAGCAGACCCCCTCCAGGACCCCAGATTGGCCCCTGTAGCTCGTTTCTCCTCAGCTGGGTCCCCAGCGGCCTGCCCTCTTTCCTCCCTGTCCCCCCATTCAGCTACTCCCTCATCCTCACTCACTGGTCTTATGAAGCTGATGGGGGGATGTTATCTCTCAGGGGAGCGGGCACCGGGGGCCTTGGCCTAGCCATCGAGGGTCCCTCGGAAGCCAAGATGTCCTGCAAGGACAACAAGGATGGTAGCTGCACCGTGGAGTACATCCCCTTCACTCCTGGAGACTATGACGTCAACATCACCTTCG... | TCAGGGGTGAGGCAGGAGCAGACCCCCTCCAGGACCCCAGATTGGCCCCTGTAGCTCGTTTCTCCTCAGCTGGGTCCCCAGCGGCCTGCCCTCTTTCCTCCCTGTCCCCCCATTCAGCTACTCCCTCATCCTCACTCACTGGTCTTATGAAGCTGATGGGGGGATGTTATCTCTCAGGGGAGCGGGCACCGGGGGCCTTGGCCTAGCCATCGAGGGTCCCTCGGAAGCCAAGATGTCCTGCAAGGACAACAAGGATGGTAGCTGCACCGTGGAGTACATCCCCTTCACTCCTGGAGACTATGACGTCAACATCACCTTCG... |
Task1_train_12191 | Given a variant located on Chromosome 7 and affecting FLNC (filamin C), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Myofibrillar myopathy 5 | TCAGGGGTGAGGCAGGAGCAGACCCCCTCCAGGACCCCAGATTGGCCCCTGTAGCTCGTTTCTCCTCAGCTGGGTCCCCAGCGGCCTGCCCTCTTTCCTCCCTGTCCCCCCATTCAGCTACTCCCTCATCCTCACTCACTGGTCTTATGAAGCTGATGGGGGGATGTTATCTCTCAGGGGAGCGGGCACCGGGGGCCTTGGCCTAGCCATCGAGGGTCCCTCGGAAGCCAAGATGTCCTGCAAGGACAACAAGGATGGTAGCTGCACCGTGGAGTACATCCCCTTCACTCCTGGAGACTATGACGTCAACATCACCTTCG... | TCAGGGGTGAGGCAGGAGCAGACCCCCTCCAGGACCCCAGATTGGCCCCTGTAGCTCGTTTCTCCTCAGCTGGGTCCCCAGCGGCCTGCCCTCTTTCCTCCCTGTCCCCCCATTCAGCTACTCCCTCATCCTCACTCACTGGTCTTATGAAGCTGATGGGGGGATGTTATCTCTCAGGGGAGCGGGCACCGGGGGCCTTGGCCTAGCCATCGAGGGTCCCTCGGAAGCCAAGATGTCCTGCAAGGACAACAAGGATGGTAGCTGCACCGTGGAGTACATCCCCTTCACTCCTGGAGACTATGACGTCAACATCACCTTCG... |
Task1_train_12192 | A variant was discovered in gene FLNC (filamin C), Chromosome 7. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Hypertrophic cardiomyopathy 26 | TCAGGGGTGAGGCAGGAGCAGACCCCCTCCAGGACCCCAGATTGGCCCCTGTAGCTCGTTTCTCCTCAGCTGGGTCCCCAGCGGCCTGCCCTCTTTCCTCCCTGTCCCCCCATTCAGCTACTCCCTCATCCTCACTCACTGGTCTTATGAAGCTGATGGGGGGATGTTATCTCTCAGGGGAGCGGGCACCGGGGGCCTTGGCCTAGCCATCGAGGGTCCCTCGGAAGCCAAGATGTCCTGCAAGGACAACAAGGATGGTAGCTGCACCGTGGAGTACATCCCCTTCACTCCTGGAGACTATGACGTCAACATCACCTTCG... | TCAGGGGTGAGGCAGGAGCAGACCCCCTCCAGGACCCCAGATTGGCCCCTGTAGCTCGTTTCTCCTCAGCTGGGTCCCCAGCGGCCTGCCCTCTTTCCTCCCTGTCCCCCCATTCAGCTACTCCCTCATCCTCACTCACTGGTCTTATGAAGCTGATGGGGGGATGTTATCTCTCAGGGGAGCGGGCACCGGGGGCCTTGGCCTAGCCATCGAGGGTCCCTCGGAAGCCAAGATGTCCTGCAAGGACAACAAGGATGGTAGCTGCACCGTGGAGTACATCCCCTTCACTCCTGGAGACTATGACGTCAACATCACCTTCG... |
Task1_train_12193 | This variant affects the gene FLNC (filamin C) found on Chromosome 7. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Dilated Cardiomyopathy, Dominant | TCAGGGGTGAGGCAGGAGCAGACCCCCTCCAGGACCCCAGATTGGCCCCTGTAGCTCGTTTCTCCTCAGCTGGGTCCCCAGCGGCCTGCCCTCTTTCCTCCCTGTCCCCCCATTCAGCTACTCCCTCATCCTCACTCACTGGTCTTATGAAGCTGATGGGGGGATGTTATCTCTCAGGGGAGCGGGCACCGGGGGCCTTGGCCTAGCCATCGAGGGTCCCTCGGAAGCCAAGATGTCCTGCAAGGACAACAAGGATGGTAGCTGCACCGTGGAGTACATCCCCTTCACTCCTGGAGACTATGACGTCAACATCACCTTCG... | TCAGGGGTGAGGCAGGAGCAGACCCCCTCCAGGACCCCAGATTGGCCCCTGTAGCTCGTTTCTCCTCAGCTGGGTCCCCAGCGGCCTGCCCTCTTTCCTCCCTGTCCCCCCATTCAGCTACTCCCTCATCCTCACTCACTGGTCTTATGAAGCTGATGGGGGGATGTTATCTCTCAGGGGAGCGGGCACCGGGGGCCTTGGCCTAGCCATCGAGGGTCCCTCGGAAGCCAAGATGTCCTGCAAGGACAACAAGGATGGTAGCTGCACCGTGGAGTACATCCCCTTCACTCCTGGAGACTATGACGTCAACATCACCTTCG... |
Task1_train_12194 | Here is a mutation in FLNC (filamin C) on Chromosome 7. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Distal myopathy with posterior leg and anterior hand involvement | TCAGGGGTGAGGCAGGAGCAGACCCCCTCCAGGACCCCAGATTGGCCCCTGTAGCTCGTTTCTCCTCAGCTGGGTCCCCAGCGGCCTGCCCTCTTTCCTCCCTGTCCCCCCATTCAGCTACTCCCTCATCCTCACTCACTGGTCTTATGAAGCTGATGGGGGGATGTTATCTCTCAGGGGAGCGGGCACCGGGGGCCTTGGCCTAGCCATCGAGGGTCCCTCGGAAGCCAAGATGTCCTGCAAGGACAACAAGGATGGTAGCTGCACCGTGGAGTACATCCCCTTCACTCCTGGAGACTATGACGTCAACATCACCTTCG... | TCAGGGGTGAGGCAGGAGCAGACCCCCTCCAGGACCCCAGATTGGCCCCTGTAGCTCGTTTCTCCTCAGCTGGGTCCCCAGCGGCCTGCCCTCTTTCCTCCCTGTCCCCCCATTCAGCTACTCCCTCATCCTCACTCACTGGTCTTATGAAGCTGATGGGGGGATGTTATCTCTCAGGGGAGCGGGCACCGGGGGCCTTGGCCTAGCCATCGAGGGTCCCTCGGAAGCCAAGATGTCCTGCAAGGACAACAAGGATGGTAGCTGCACCGTGGAGTACATCCCCTTCACTCCTGGAGACTATGACGTCAACATCACCTTCG... |
Task1_train_12195 | Given this variant in gene FLNC-AS1, FLNC (FLNC antisense RNA 1| filamin C) on Chromosome 7, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Distal myopathy with posterior leg and anterior hand involvement | TCTGTTCTCCACGGCAGCTAAGAAGCAGTCAGCCACTCCTTGTGCCTGAAAACACATTGCCTCATTTAGTCTTTGAAGTCATTTGTTTTGTTTTTGTTTTTGAGAGGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCATGCCATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTCCAGGCGCCCGCCACCATGCCTGGCTATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTG... | TCTGTTCTCCACGGCAGCTAAGAAGCAGTCAGCCACTCCTTGTGCCTGAAAACACATTGCCTCATTTAGTCTTTGAAGTCATTTGTTTTGTTTTTGTTTTTGAGAGGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCATGCCATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTCCAGGCGCCCGCCACCATGCCTGGCTATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTG... |
Task1_train_12196 | This alteration occurs within gene FLNC-AS1, FLNC (FLNC antisense RNA 1| filamin C) located on Chromosome 7. Is it associated with a disease or is it a benign variant? | Pathogenic; Dilated Cardiomyopathy, Dominant | TCTGTTCTCCACGGCAGCTAAGAAGCAGTCAGCCACTCCTTGTGCCTGAAAACACATTGCCTCATTTAGTCTTTGAAGTCATTTGTTTTGTTTTTGTTTTTGAGAGGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCATGCCATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTCCAGGCGCCCGCCACCATGCCTGGCTATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTG... | TCTGTTCTCCACGGCAGCTAAGAAGCAGTCAGCCACTCCTTGTGCCTGAAAACACATTGCCTCATTTAGTCTTTGAAGTCATTTGTTTTGTTTTTGTTTTTGAGAGGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCATGCCATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTCCAGGCGCCCGCCACCATGCCTGGCTATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTG... |
Task1_train_12197 | A mutation in FLNC-AS1, FLNC (FLNC antisense RNA 1| filamin C), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hypertrophic cardiomyopathy 26 | TCTGTTCTCCACGGCAGCTAAGAAGCAGTCAGCCACTCCTTGTGCCTGAAAACACATTGCCTCATTTAGTCTTTGAAGTCATTTGTTTTGTTTTTGTTTTTGAGAGGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCATGCCATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTCCAGGCGCCCGCCACCATGCCTGGCTATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTG... | TCTGTTCTCCACGGCAGCTAAGAAGCAGTCAGCCACTCCTTGTGCCTGAAAACACATTGCCTCATTTAGTCTTTGAAGTCATTTGTTTTGTTTTTGTTTTTGAGAGGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCATGCCATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTCCAGGCGCCCGCCACCATGCCTGGCTATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTG... |
Task1_train_12198 | Assess the clinical impact of this variant on gene FLNC-AS1, FLNC (FLNC antisense RNA 1| filamin C), found on Chromosome 7. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Myofibrillar myopathy 5 | TCTGTTCTCCACGGCAGCTAAGAAGCAGTCAGCCACTCCTTGTGCCTGAAAACACATTGCCTCATTTAGTCTTTGAAGTCATTTGTTTTGTTTTTGTTTTTGAGAGGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCATGCCATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTCCAGGCGCCCGCCACCATGCCTGGCTATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTG... | TCTGTTCTCCACGGCAGCTAAGAAGCAGTCAGCCACTCCTTGTGCCTGAAAACACATTGCCTCATTTAGTCTTTGAAGTCATTTGTTTTGTTTTTGTTTTTGAGAGGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCATGCCATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTCCAGGCGCCCGCCACCATGCCTGGCTATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTG... |
Task1_train_12199 | A genomic change on Chromosome 7 affects FLNC-AS1, FLNC (FLNC antisense RNA 1| filamin C). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hypertrophic cardiomyopathy 26 | TCCCCCACCAGGTGATGACTCCATGAGGACCTCACAGCTGAATGTGGGCACCTCCACGGACGTGTCACTGAAGATCACCGAGAGTGATCTGAGCCAGCTGACCGCCAGCATCCGTGCCCCCTCGGGCAACGAGGAGCCCTGCCTGCTGAAGCGCCTGCCCAACCGGCACATTGGTGAGCGTGGGGCCTCACGGGGACCTCAGGGGTGGGGGCCCACAGGATGCTCTGCCTAACACCCACTTTCCACAGGGATCTCCTTCACCCCCAAGGAGGTCGGGGAGCACGTGGTGAGCGTGCGCAAGAGTGGCAAGCATGTCACCA... | TCCCCCACCAGGTGATGACTCCATGAGGACCTCACAGCTGAATGTGGGCACCTCCACGGACGTGTCACTGAAGATCACCGAGAGTGATCTGAGCCAGCTGACCGCCAGCATCCGTGCCCCCTCGGGCAACGAGGAGCCCTGCCTGCTGAAGCGCCTGCCCAACCGGCACATTGGTGAGCGTGGGGCCTCACGGGGACCTCAGGGGTGGGGGCCCACAGGATGCTCTGCCTAACACCCACTTTCCACAGGGATCTCCTTCACCCCCAAGGAGGTCGGGGAGCACGTGGTGAGCGTGCGCAAGAGTGGCAAGCATGTCACCA... |
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