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_24000 | Here is a genetic alteration in NF1 (neurofibromin 1) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Neurofibromatosis, type 1 | TGCTTAATTACAATAGGAAAAAGTTATATTTTTACGAAGCAAATGTGTGTACCTAATACCTTTATTTGGAGGGGACATGTAGCTTTAGAATGAAAGCTTTTGGGGGGATAACTGTTTTATATAATTACATACCATACAGTTCACCCATTTAAAGTGTCCAATTCAGTGACTGTTTTTAATGTATTCACAGAGTTGTGCAACCATCACCACAATCAAGTTTTAGAACAATTTCATCAATTGAGAAAAAAACCCCGTACCCTTTAGCTATCTCTGCCTCTAACCACCCCCCACCCACTTTCTTGCCTCTCTTCCCCCAACGT... | TGCTTAATTACAATAGGAAAAAGTTATATTTTTACGAAGCAAATGTGTGTACCTAATACCTTTATTTGGAGGGGACATGTAGCTTTAGAATGAAAGCTTTTGGGGGGATAACTGTTTTATATAATTACATACCATACAGTTCACCCATTTAAAGTGTCCAATTCAGTGACTGTTTTTAATGTATTCACAGAGTTGTGCAACCATCACCACAATCAAGTTTTAGAACAATTTCATCAATTGAGAAAAAAACCCCGTACCCTTTAGCTATCTCTGCCTCTAACCACCCCCCACCCACTTTCTTGCCTCTCTTCCCCCAACGT... |
Task1_train_24001 | This variant lies on Chromosome 17 and affects the gene NF1 (neurofibromin 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Neurofibromatosis, type 1 | ACAATAGGAAAAAGTTATATTTTTACGAAGCAAATGTGTGTACCTAATACCTTTATTTGGAGGGGACATGTAGCTTTAGAATGAAAGCTTTTGGGGGGATAACTGTTTTATATAATTACATACCATACAGTTCACCCATTTAAAGTGTCCAATTCAGTGACTGTTTTTAATGTATTCACAGAGTTGTGCAACCATCACCACAATCAAGTTTTAGAACAATTTCATCAATTGAGAAAAAAACCCCGTACCCTTTAGCTATCTCTGCCTCTAACCACCCCCCACCCACTTTCTTGCCTCTCTTCCCCCAACGTCTCTAGCCC... | ACAATAGGAAAAAGTTATATTTTTACGAAGCAAATGTGTGTACCTAATACCTTTATTTGGAGGGGACATGTAGCTTTAGAATGAAAGCTTTTGGGGGGATAACTGTTTTATATAATTACATACCATACAGTTCACCCATTTAAAGTGTCCAATTCAGTGACTGTTTTTAATGTATTCACAGAGTTGTGCAACCATCACCACAATCAAGTTTTAGAACAATTTCATCAATTGAGAAAAAAACCCCGTACCCTTTAGCTATCTCTGCCTCTAACCACCCCCCACCCACTTTCTTGCCTCTCTTCCCCCAACGTCTCTAGCCC... |
Task1_train_24002 | This gene mutation involves NF1 (neurofibromin 1) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Neurofibromatosis, type 1 | ACTCGGCTGATTATATTAGTGTATGATAAAAATAGATCAGTGGCTCTTTAAAAATGTATATGGTAATTTTATGGGTTGATTTTAATGTATATTTTACATTTTTTGTACTTTTGTCATGGAAGAAATGTTGGATAAAGCATAATTTGTCAAGTCTCAACTAATTAAGGTTTAATTCATGCTTTGCACAAAAATTTTGTGTTTAGGCTGCTGAAAGCCTTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGACACAGACTCCCTACAGGAATGGATCAACATGACTGGC... | ACTCGGCTGATTATATTAGTGTATGATAAAAATAGATCAGTGGCTCTTTAAAAATGTATATGGTAATTTTATGGGTTGATTTTAATGTATATTTTACATTTTTTGTACTTTTGTCATGGAAGAAATGTTGGATAAAGCATAATTTGTCAAGTCTCAACTAATTAAGGTTTAATTCATGCTTTGCACAAAAATTTTGTGTTTAGGCTGCTGAAAGCCTTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGACACAGACTCCCTACAGGAATGGATCAACATGACTGGC... |
Task1_train_24003 | Assess the clinical impact of this variant on gene NF1 (neurofibromin 1), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Neurofibromatosis, type 1 | AAGGTAGCCAGAAGTTGTGTACGTTCTTTTCTAAATAAATATCTTATTGTTTTCAAACTTACATTTAATTCGTTTTACTTGATGACTAAAGTATTTAGAATGCCTTCTCTTTTGTCTATATCTGATAATTTTTTTATTGTTTCTATGTCTATATAGGTATGTTCGTGTGCTTGGGAATATGGTCCATGCAATTCAAATAAAAACGAAACTGTGTCAATTAGTTGAAGTAATGATGGCAAGGAGAGATGACCTCTCATTTTGCCAAGAGATGAAATTTAGGTGAGTTCTCAAAAGAGCAATGTAGGGTCTTGTAAATCTTA... | AAGGTAGCCAGAAGTTGTGTACGTTCTTTTCTAAATAAATATCTTATTGTTTTCAAACTTACATTTAATTCGTTTTACTTGATGACTAAAGTATTTAGAATGCCTTCTCTTTTGTCTATATCTGATAATTTTTTTATTGTTTCTATGTCTATATAGGTATGTTCGTGTGCTTGGGAATATGGTCCATGCAATTCAAATAAAAACGAAACTGTGTCAATTAGTTGAAGTAATGATGGCAAGGAGAGATGACCTCTCATTTTGCCAAGAGATGAAATTTAGGTGAGTTCTCAAAAGAGCAATGTAGGGTCTTGTAAATCTTA... |
Task1_train_24004 | Here is a genetic alteration in NF1 (neurofibromin 1) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Neurofibromatosis, type 1 | AGGTAGCCAGAAGTTGTGTACGTTCTTTTCTAAATAAATATCTTATTGTTTTCAAACTTACATTTAATTCGTTTTACTTGATGACTAAAGTATTTAGAATGCCTTCTCTTTTGTCTATATCTGATAATTTTTTTATTGTTTCTATGTCTATATAGGTATGTTCGTGTGCTTGGGAATATGGTCCATGCAATTCAAATAAAAACGAAACTGTGTCAATTAGTTGAAGTAATGATGGCAAGGAGAGATGACCTCTCATTTTGCCAAGAGATGAAATTTAGGTGAGTTCTCAAAAGAGCAATGTAGGGTCTTGTAAATCTTAA... | AGGTAGCCAGAAGTTGTGTACGTTCTTTTCTAAATAAATATCTTATTGTTTTCAAACTTACATTTAATTCGTTTTACTTGATGACTAAAGTATTTAGAATGCCTTCTCTTTTGTCTATATCTGATAATTTTTTTATTGTTTCTATGTCTATATAGGTATGTTCGTGTGCTTGGGAATATGGTCCATGCAATTCAAATAAAAACGAAACTGTGTCAATTAGTTGAAGTAATGATGGCAAGGAGAGATGACCTCTCATTTTGCCAAGAGATGAAATTTAGGTGAGTTCTCAAAAGAGCAATGTAGGGTCTTGTAAATCTTAA... |
Task1_train_24005 | A variant has been detected on Chromosome 17 in NF1 (neurofibromin 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Neurofibromatosis, type 1 | GTGACTAAAGGTGTGTGTGTGGCTTCAAAAACATTGTTTGCTGTTTCTCTTTTCTCCACCATTCTATAGGAATAAGATGGTAGAATACCTGACAGACTGGGTTATGGGAACATCAAACCAAGCAGCAGATGATGATGTAAAATGTCTTACAAGGTAAAAAAAGAATGACCTTCAAGTATTAGTGGGTTTTACTGTGAGAGTTATAACTACTTAATTACAGCTTTATACTTGTATTTTGTGTGTATTTAAACTTTTGAGATGTCAAACTTTTGTGTTTGAAATATGTAAAGATGCTAATCTTTATTACTGCTTTTTTTTGA... | GTGACTAAAGGTGTGTGTGTGGCTTCAAAAACATTGTTTGCTGTTTCTCTTTTCTCCACCATTCTATAGGAATAAGATGGTAGAATACCTGACAGACTGGGTTATGGGAACATCAAACCAAGCAGCAGATGATGATGTAAAATGTCTTACAAGGTAAAAAAAGAATGACCTTCAAGTATTAGTGGGTTTTACTGTGAGAGTTATAACTACTTAATTACAGCTTTATACTTGTATTTTGTGTGTATTTAAACTTTTGAGATGTCAAACTTTTGTGTTTGAAATATGTAAAGATGCTAATCTTTATTACTGCTTTTTTTTGA... |
Task1_train_24006 | Gene NF1 (neurofibromin 1), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Neurofibromatosis, type 1 | AAGGTGTGTGTGTGGCTTCAAAAACATTGTTTGCTGTTTCTCTTTTCTCCACCATTCTATAGGAATAAGATGGTAGAATACCTGACAGACTGGGTTATGGGAACATCAAACCAAGCAGCAGATGATGATGTAAAATGTCTTACAAGGTAAAAAAAGAATGACCTTCAAGTATTAGTGGGTTTTACTGTGAGAGTTATAACTACTTAATTACAGCTTTATACTTGTATTTTGTGTGTATTTAAACTTTTGAGATGTCAAACTTTTGTGTTTGAAATATGTAAAGATGCTAATCTTTATTACTGCTTTTTTTTGACTGATAG... | AAGGTGTGTGTGTGGCTTCAAAAACATTGTTTGCTGTTTCTCTTTTCTCCACCATTCTATAGGAATAAGATGGTAGAATACCTGACAGACTGGGTTATGGGAACATCAAACCAAGCAGCAGATGATGATGTAAAATGTCTTACAAGGTAAAAAAAGAATGACCTTCAAGTATTAGTGGGTTTTACTGTGAGAGTTATAACTACTTAATTACAGCTTTATACTTGTATTTTGTGTGTATTTAAACTTTTGAGATGTCAAACTTTTGTGTTTGAAATATGTAAAGATGCTAATCTTTATTACTGCTTTTTTTTGACTGATAG... |
Task1_train_24007 | This is a variant in NF1 (neurofibromin 1), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Neurofibromatosis, type 1 | GTGTGTGTGTGGCTTCAAAAACATTGTTTGCTGTTTCTCTTTTCTCCACCATTCTATAGGAATAAGATGGTAGAATACCTGACAGACTGGGTTATGGGAACATCAAACCAAGCAGCAGATGATGATGTAAAATGTCTTACAAGGTAAAAAAAGAATGACCTTCAAGTATTAGTGGGTTTTACTGTGAGAGTTATAACTACTTAATTACAGCTTTATACTTGTATTTTGTGTGTATTTAAACTTTTGAGATGTCAAACTTTTGTGTTTGAAATATGTAAAGATGCTAATCTTTATTACTGCTTTTTTTTGACTGATAGACT... | GTGTGTGTGTGGCTTCAAAAACATTGTTTGCTGTTTCTCTTTTCTCCACCATTCTATAGGAATAAGATGGTAGAATACCTGACAGACTGGGTTATGGGAACATCAAACCAAGCAGCAGATGATGATGTAAAATGTCTTACAAGGTAAAAAAAGAATGACCTTCAAGTATTAGTGGGTTTTACTGTGAGAGTTATAACTACTTAATTACAGCTTTATACTTGTATTTTGTGTGTATTTAAACTTTTGAGATGTCAAACTTTTGTGTTTGAAATATGTAAAGATGCTAATCTTTATTACTGCTTTTTTTTGACTGATAGACT... |
Task1_train_24008 | The gene NF1 (neurofibromin 1) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Neurofibromatosis, type 1 | GTGTGTGTGGCTTCAAAAACATTGTTTGCTGTTTCTCTTTTCTCCACCATTCTATAGGAATAAGATGGTAGAATACCTGACAGACTGGGTTATGGGAACATCAAACCAAGCAGCAGATGATGATGTAAAATGTCTTACAAGGTAAAAAAAGAATGACCTTCAAGTATTAGTGGGTTTTACTGTGAGAGTTATAACTACTTAATTACAGCTTTATACTTGTATTTTGTGTGTATTTAAACTTTTGAGATGTCAAACTTTTGTGTTTGAAATATGTAAAGATGCTAATCTTTATTACTGCTTTTTTTTGACTGATAGACTTT... | GTGTGTGTGGCTTCAAAAACATTGTTTGCTGTTTCTCTTTTCTCCACCATTCTATAGGAATAAGATGGTAGAATACCTGACAGACTGGGTTATGGGAACATCAAACCAAGCAGCAGATGATGATGTAAAATGTCTTACAAGGTAAAAAAAGAATGACCTTCAAGTATTAGTGGGTTTTACTGTGAGAGTTATAACTACTTAATTACAGCTTTATACTTGTATTTTGTGTGTATTTAAACTTTTGAGATGTCAAACTTTTGTGTTTGAAATATGTAAAGATGCTAATCTTTATTACTGCTTTTTTTTGACTGATAGACTTT... |
Task1_train_24009 | A genomic change on Chromosome 17 affects NF1 (neurofibromin 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Neurofibromatosis, type 1 | CCATTCTATAGGAATAAGATGGTAGAATACCTGACAGACTGGGTTATGGGAACATCAAACCAAGCAGCAGATGATGATGTAAAATGTCTTACAAGGTAAAAAAAGAATGACCTTCAAGTATTAGTGGGTTTTACTGTGAGAGTTATAACTACTTAATTACAGCTTTATACTTGTATTTTGTGTGTATTTAAACTTTTGAGATGTCAAACTTTTGTGTTTGAAATATGTAAAGATGCTAATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGT... | CCATTCTATAGGAATAAGATGGTAGAATACCTGACAGACTGGGTTATGGGAACATCAAACCAAGCAGCAGATGATGATGTAAAATGTCTTACAAGGTAAAAAAAGAATGACCTTCAAGTATTAGTGGGTTTTACTGTGAGAGTTATAACTACTTAATTACAGCTTTATACTTGTATTTTGTGTGTATTTAAACTTTTGAGATGTCAAACTTTTGTGTTTGAAATATGTAAAGATGCTAATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGT... |
Task1_train_24010 | The gene NF1 (neurofibromin 1) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Neurofibromatosis, type 1 | ATTCTATAGGAATAAGATGGTAGAATACCTGACAGACTGGGTTATGGGAACATCAAACCAAGCAGCAGATGATGATGTAAAATGTCTTACAAGGTAAAAAAAGAATGACCTTCAAGTATTAGTGGGTTTTACTGTGAGAGTTATAACTACTTAATTACAGCTTTATACTTGTATTTTGTGTGTATTTAAACTTTTGAGATGTCAAACTTTTGTGTTTGAAATATGTAAAGATGCTAATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTG... | ATTCTATAGGAATAAGATGGTAGAATACCTGACAGACTGGGTTATGGGAACATCAAACCAAGCAGCAGATGATGATGTAAAATGTCTTACAAGGTAAAAAAAGAATGACCTTCAAGTATTAGTGGGTTTTACTGTGAGAGTTATAACTACTTAATTACAGCTTTATACTTGTATTTTGTGTGTATTTAAACTTTTGAGATGTCAAACTTTTGTGTTTGAAATATGTAAAGATGCTAATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTG... |
Task1_train_24011 | This variant impacts the gene NF1 (neurofibromin 1) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Neurofibromatosis, type 1 | TACTTAATTACAGCTTTATACTTGTATTTTGTGTGTATTTAAACTTTTGAGATGTCAAACTTTTGTGTTTGAAATATGTAAAGATGCTAATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATT... | TACTTAATTACAGCTTTATACTTGTATTTTGTGTGTATTTAAACTTTTGAGATGTCAAACTTTTGTGTTTGAAATATGTAAAGATGCTAATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATT... |
Task1_train_24012 | Chromosome 17 houses a mutation in gene NF1 (neurofibromin 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Neurofibromatosis, type 1 | TATACTTGTATTTTGTGTGTATTTAAACTTTTGAGATGTCAAACTTTTGTGTTTGAAATATGTAAAGATGCTAATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAG... | TATACTTGTATTTTGTGTGTATTTAAACTTTTGAGATGTCAAACTTTTGTGTTTGAAATATGTAAAGATGCTAATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAG... |
Task1_train_24013 | Gene NF1 (neurofibromin 1) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Neurofibromatosis, type 1 | TTGTATTTTGTGTGTATTTAAACTTTTGAGATGTCAAACTTTTGTGTTTGAAATATGTAAAGATGCTAATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAA... | TTGTATTTTGTGTGTATTTAAACTTTTGAGATGTCAAACTTTTGTGTTTGAAATATGTAAAGATGCTAATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAA... |
Task1_train_24014 | Here is a mutation in NF1 (neurofibromin 1) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Neurofibromatosis, type 1 | ATTTTGTGTGTATTTAAACTTTTGAGATGTCAAACTTTTGTGTTTGAAATATGTAAAGATGCTAATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAG... | ATTTTGTGTGTATTTAAACTTTTGAGATGTCAAACTTTTGTGTTTGAAATATGTAAAGATGCTAATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAG... |
Task1_train_24015 | A sequence alteration has been identified in NF1 (neurofibromin 1) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Neurofibromatosis, type 1 | AAACTTTTGAGATGTCAAACTTTTGTGTTTGAAATATGTAAAGATGCTAATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCT... | AAACTTTTGAGATGTCAAACTTTTGTGTTTGAAATATGTAAAGATGCTAATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCT... |
Task1_train_24016 | A sequence alteration has been identified in NF1 (neurofibromin 1) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Neurofibromatosis, type 1 | TTGAGATGTCAAACTTTTGTGTTTGAAATATGTAAAGATGCTAATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCTGCTTTA... | TTGAGATGTCAAACTTTTGTGTTTGAAATATGTAAAGATGCTAATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCTGCTTTA... |
Task1_train_24017 | Given this variant in gene NF1 (neurofibromin 1) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Neurofibromatosis, type 1 | CAAACTTTTGTGTTTGAAATATGTAAAGATGCTAATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCTGCTTTAATGATACTT... | CAAACTTTTGTGTTTGAAATATGTAAAGATGCTAATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCTGCTTTAATGATACTT... |
Task1_train_24018 | Given this variant in gene NF1 (neurofibromin 1) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Neurofibromatosis, type 1 | CAAACTTTTGTGTTTGAAATATGTAAAGATGCTAATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCTGCTTTAATGATACTT... | CAAACTTTTGTGTTTGAAATATGTAAAGATGCTAATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCTGCTTTAATGATACTT... |
Task1_train_24019 | Here’s a variant in NF1 (neurofibromin 1) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Neurofibromatosis, type 1 | AAACTTTTGTGTTTGAAATATGTAAAGATGCTAATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCTGCTTTAATGATACTTA... | AAACTTTTGTGTTTGAAATATGTAAAGATGCTAATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCTGCTTTAATGATACTTA... |
Task1_train_24020 | An alteration has been detected in NF1 (neurofibromin 1) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Neurofibromatosis, type 1 | AAACTTTTGTGTTTGAAATATGTAAAGATGCTAATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCTGCTTTAATGATACTTA... | AAACTTTTGTGTTTGAAATATGTAAAGATGCTAATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCTGCTTTAATGATACTTA... |
Task1_train_24021 | Consider this mutation in NF1 (neurofibromin 1) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Neurofibromatosis, type 1 | GTGTTTGAAATATGTAAAGATGCTAATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCTGCTTTAATGATACTTATTGACACA... | GTGTTTGAAATATGTAAAGATGCTAATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCTGCTTTAATGATACTTATTGACACA... |
Task1_train_24022 | The gene NF1 (neurofibromin 1) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Juvenile myelomonocytic leukemia | AATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCTGCTTTAATGATACTTATTGACACATATCAGAAAATGATTAAACACTAT... | AATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCTGCTTTAATGATACTTATTGACACATATCAGAAAATGATTAAACACTAT... |
Task1_train_24023 | A mutation in NF1 (neurofibromin 1), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Neurofibromatosis, type 1 | AATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCTGCTTTAATGATACTTATTGACACATATCAGAAAATGATTAAACACTAT... | AATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCTGCTTTAATGATACTTATTGACACATATCAGAAAATGATTAAACACTAT... |
Task1_train_24024 | Here’s a variant in NF1 (neurofibromin 1) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hereditary cancer-predisposing syndrome | AATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCTGCTTTAATGATACTTATTGACACATATCAGAAAATGATTAAACACTAT... | AATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCTGCTTTAATGATACTTATTGACACATATCAGAAAATGATTAAACACTAT... |
Task1_train_24025 | Chromosome 17 houses a mutation in gene NF1 (neurofibromin 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Cardiovascular phenotype | AATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCTGCTTTAATGATACTTATTGACACATATCAGAAAATGATTAAACACTAT... | AATCTTTATTACTGCTTTTTTTTGACTGATAGACTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCTGCTTTAATGATACTTATTGACACATATCAGAAAATGATTAAACACTAT... |
Task1_train_24026 | This genomic variant is located on Chromosome 17, within the NF1 (neurofibromin 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Neurofibromatosis, type 1 | CTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCTGCTTTAATGATACTTATTGACACATATCAGAAAATGATTAAACACTATGGACTGTATAATAAGCATTCACATATGTTTCTT... | CTTTCAGTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCTGCTTTAATGATACTTATTGACACATATCAGAAAATGATTAAACACTATGGACTGTATAATAAGCATTCACATATGTTTCTT... |
Task1_train_24027 | This gene mutation involves NF1 (neurofibromin 1) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Neurofibromatosis, type 1 | GTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCTGCTTTAATGATACTTATTGACACATATCAGAAAATGATTAAACACTATGGACTGTATAATAAGCATTCACATATGTTTCTTTGACCA... | GTAAAATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCTGCTTTAATGATACTTATTGACACATATCAGAAAATGATTAAACACTATGGACTGTATAATAAGCATTCACATATGTTTCTTTGACCA... |
Task1_train_24028 | Here is a genetic alteration in NF1 (neurofibromin 1) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Neurofibromatosis, type 1 | ATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCTGCTTTAATGATACTTATTGACACATATCAGAAAATGATTAAACACTATGGACTGTATAATAAGCATTCACATATGTTTCTTTGACCAAGCCT... | ATTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCTGCTTTAATGATACTTATTGACACATATCAGAAAATGATTAAACACTATGGACTGTATAATAAGCATTCACATATGTTTCTTTGACCAAGCCT... |
Task1_train_24029 | Consider this mutation in NF1 (neurofibromin 1) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Neurofibromatosis, type 1 | TTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCTGCTTTAATGATACTTATTGACACATATCAGAAAATGATTAAACACTATGGACTGTATAATAAGCATTCACATATGTTTCTTTGACCAAGCCTA... | TTAAATGTGAAAGAGTGATATGTTTGGGAAGTTAGTGTTGTCAGTTTATGAAGAATAGTCTACAGTTATTGGGAAATAAGATACATAAAGCCTCAGATTGCATTTGTGTTATGATTAGATAGATAAAGGTATTATTTGAGGAACTCATTGTGTTGAATCTTTTTAAGAAATAATTGATTTCCTGATTCAAGCACCAGAGACAGAAAAAAAAGGAAGTAATCAAGTCTGCTTTAATGATACTTATTGACACATATCAGAAAATGATTAAACACTATGGACTGTATAATAAGCATTCACATATGTTTCTTTGACCAAGCCTA... |
Task1_train_24030 | Chromosome 17 houses a mutation in gene NF1 (neurofibromin 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Café-au-lait macules with pulmonary stenosis | ATGTCTCTCTCTTAATTTAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCTTACCCTGTCCTACAAGGCTCTACCTGATCTGGGCCCTACCTCATCTCTAACATCATCTTATGCTATTTTCTTTCTTGTTCACCAGAGCCAC... | ATGTCTCTCTCTTAATTTAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCTTACCCTGTCCTACAAGGCTCTACCTGATCTGGGCCCTACCTCATCTCTAACATCATCTTATGCTATTTTCTTTCTTGTTCACCAGAGCCAC... |
Task1_train_24031 | This gene mutation involves NF1 (neurofibromin 1) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Neurofibromatosis, type 1 | ATGTCTCTCTCTTAATTTAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCTTACCCTGTCCTACAAGGCTCTACCTGATCTGGGCCCTACCTCATCTCTAACATCATCTTATGCTATTTTCTTTCTTGTTCACCAGAGCCAC... | ATGTCTCTCTCTTAATTTAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCTTACCCTGTCCTACAAGGCTCTACCTGATCTGGGCCCTACCTCATCTCTAACATCATCTTATGCTATTTTCTTTCTTGTTCACCAGAGCCAC... |
Task1_train_24032 | A genomic change on Chromosome 17 affects NF1 (neurofibromin 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Juvenile myelomonocytic leukemia | ATGTCTCTCTCTTAATTTAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCTTACCCTGTCCTACAAGGCTCTACCTGATCTGGGCCCTACCTCATCTCTAACATCATCTTATGCTATTTTCTTTCTTGTTCACCAGAGCCAC... | ATGTCTCTCTCTTAATTTAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCTTACCCTGTCCTACAAGGCTCTACCTGATCTGGGCCCTACCTCATCTCTAACATCATCTTATGCTATTTTCTTTCTTGTTCACCAGAGCCAC... |
Task1_train_24033 | A mutation found in NF1 (neurofibromin 1) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Neurofibromatosis, familial spinal | ATGTCTCTCTCTTAATTTAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCTTACCCTGTCCTACAAGGCTCTACCTGATCTGGGCCCTACCTCATCTCTAACATCATCTTATGCTATTTTCTTTCTTGTTCACCAGAGCCAC... | ATGTCTCTCTCTTAATTTAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCTTACCCTGTCCTACAAGGCTCTACCTGATCTGGGCCCTACCTCATCTCTAACATCATCTTATGCTATTTTCTTTCTTGTTCACCAGAGCCAC... |
Task1_train_24034 | Gene NF1 (neurofibromin 1) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Neurofibromatosis-Noonan syndrome | ATGTCTCTCTCTTAATTTAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCTTACCCTGTCCTACAAGGCTCTACCTGATCTGGGCCCTACCTCATCTCTAACATCATCTTATGCTATTTTCTTTCTTGTTCACCAGAGCCAC... | ATGTCTCTCTCTTAATTTAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCTTACCCTGTCCTACAAGGCTCTACCTGATCTGGGCCCTACCTCATCTCTAACATCATCTTATGCTATTTTCTTTCTTGTTCACCAGAGCCAC... |
Task1_train_24035 | A variant affecting Chromosome 17, within the gene NF1 (neurofibromin 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Café-au-lait macules with pulmonary stenosis | ATGTCTCTCTCTTAATTTAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCTTACCCTGTCCTACAAGGCTCTACCTGATCTGGGCCCTACCTCATCTCTAACATCATCTTATGCTATTTTCTTTCTTGTTCACCAGAGCCAC... | ATGTCTCTCTCTTAATTTAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCTTACCCTGTCCTACAAGGCTCTACCTGATCTGGGCCCTACCTCATCTCTAACATCATCTTATGCTATTTTCTTTCTTGTTCACCAGAGCCAC... |
Task1_train_24036 | The gene NF1 (neurofibromin 1) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Neurofibromatosis, type 1 | ATGTCTCTCTCTTAATTTAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCTTACCCTGTCCTACAAGGCTCTACCTGATCTGGGCCCTACCTCATCTCTAACATCATCTTATGCTATTTTCTTTCTTGTTCACCAGAGCCAC... | ATGTCTCTCTCTTAATTTAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCTTACCCTGTCCTACAAGGCTCTACCTGATCTGGGCCCTACCTCATCTCTAACATCATCTTATGCTATTTTCTTTCTTGTTCACCAGAGCCAC... |
Task1_train_24037 | A mutation found in NF1 (neurofibromin 1) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Neurofibromatosis-Noonan syndrome | ATGTCTCTCTCTTAATTTAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCTTACCCTGTCCTACAAGGCTCTACCTGATCTGGGCCCTACCTCATCTCTAACATCATCTTATGCTATTTTCTTTCTTGTTCACCAGAGCCAC... | ATGTCTCTCTCTTAATTTAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCTTACCCTGTCCTACAAGGCTCTACCTGATCTGGGCCCTACCTCATCTCTAACATCATCTTATGCTATTTTCTTTCTTGTTCACCAGAGCCAC... |
Task1_train_24038 | This alteration in NF1 (neurofibromin 1) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Neurofibromatosis, type 1 | ATGTCTCTCTCTTAATTTAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCTTACCCTGTCCTACAAGGCTCTACCTGATCTGGGCCCTACCTCATCTCTAACATCATCTTATGCTATTTTCTTTCTTGTTCACCAGAGCCAC... | ATGTCTCTCTCTTAATTTAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCTTACCCTGTCCTACAAGGCTCTACCTGATCTGGGCCCTACCTCATCTCTAACATCATCTTATGCTATTTTCTTTCTTGTTCACCAGAGCCAC... |
Task1_train_24039 | A mutation found in NF1 (neurofibromin 1) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Hereditary cancer-predisposing syndrome | ATGTCTCTCTCTTAATTTAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCTTACCCTGTCCTACAAGGCTCTACCTGATCTGGGCCCTACCTCATCTCTAACATCATCTTATGCTATTTTCTTTCTTGTTCACCAGAGCCAC... | ATGTCTCTCTCTTAATTTAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCTTACCCTGTCCTACAAGGCTCTACCTGATCTGGGCCCTACCTCATCTCTAACATCATCTTATGCTATTTTCTTTCTTGTTCACCAGAGCCAC... |
Task1_train_24040 | This genomic variant is located on Chromosome 17, within the NF1 (neurofibromin 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Cardiovascular phenotype | ATGTCTCTCTCTTAATTTAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCTTACCCTGTCCTACAAGGCTCTACCTGATCTGGGCCCTACCTCATCTCTAACATCATCTTATGCTATTTTCTTTCTTGTTCACCAGAGCCAC... | ATGTCTCTCTCTTAATTTAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCTTACCCTGTCCTACAAGGCTCTACCTGATCTGGGCCCTACCTCATCTCTAACATCATCTTATGCTATTTTCTTTCTTGTTCACCAGAGCCAC... |
Task1_train_24041 | The gene NF1 (neurofibromin 1) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Neurofibromatosis, type 1 | ATGTCTCTCTCTTAATTTAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCTTACCCTGTCCTACAAGGCTCTACCTGATCTGGGCCCTACCTCATCTCTAACATCATCTTATGCTATTTTCTTTCTTGTTCACCAGAGCCAC... | ATGTCTCTCTCTTAATTTAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCTTACCCTGTCCTACAAGGCTCTACCTGATCTGGGCCCTACCTCATCTCTAACATCATCTTATGCTATTTTCTTTCTTGTTCACCAGAGCCAC... |
Task1_train_24042 | Gene NF1 (neurofibromin 1), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Neurofibromatosis, type 1 | TAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCTTACCCTGTCCTACAAGGCTCTACCTGATCTGGGCCCTACCTCATCTCTAACATCATCTTATGCTATTTTCTTTCTTGTTCACCAGAGCCACACCAGCTACCTTTCTGT... | TAATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCTTACCCTGTCCTACAAGGCTCTACCTGATCTGGGCCCTACCTCATCTCTAACATCATCTTATGCTATTTTCTTTCTTGTTCACCAGAGCCACACCAGCTACCTTTCTGT... |
Task1_train_24043 | This alteration in NF1 (neurofibromin 1) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Neurofibromatosis, type 1 | ATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCTTACCCTGTCCTACAAGGCTCTACCTGATCTGGGCCCTACCTCATCTCTAACATCATCTTATGCTATTTTCTTTCTTGTTCACCAGAGCCACACCAGCTACCTTTCTGTCC... | ATGAAAAATTTTCCTAAAATCACATCATTCTTAATACATGCTAAAACGTTGAGACGGGTTGTTGTTCCTTTCCAGTGTTAAAAGGCTATTTGCTTTTTAGTGTACCAAAACTGATTTCAGTTATAGTAAATTATGACTAATAAGGTAATCTGTCCTTGTTAACAAGCCTGTATTTGTTATACCTGTACTTAAAGTAAAATTCAAACTCCTTACCCTGTCCTACAAGGCTCTACCTGATCTGGGCCCTACCTCATCTCTAACATCATCTTATGCTATTTTCTTTCTTGTTCACCAGAGCCACACCAGCTACCTTTCTGTCC... |
Task1_train_24044 | A variant affecting Chromosome 17, within the gene NF1 (neurofibromin 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Neurofibromatosis, type 1 | TATTTTCTTTCTTGTTCACCAGAGCCACACCAGCTACCTTTCTGTCCCTCCTTGTTAGACTTATTTCTGCTTTAGAGCACCCTTGCTGCTGCCACCACCTGAAATGCTTCTCTTCTGGTATTTTATTTTGGTGAGAACACCTGGCATGAGATCTACCCTCTAACAGATTTTTAAGTGTATAATACAGTATTGCTGTCTGTAGGCACAATGCTGCACAGCAGATCTCTAGAACTTACCTTGTATAACTGAAATTTTATACTCATTGATTAGCAACAGCCCCAAATTATTGAAACCTCCTTGAAGCCTAAATTTCAGAAATG... | TATTTTCTTTCTTGTTCACCAGAGCCACACCAGCTACCTTTCTGTCCCTCCTTGTTAGACTTATTTCTGCTTTAGAGCACCCTTGCTGCTGCCACCACCTGAAATGCTTCTCTTCTGGTATTTTATTTTGGTGAGAACACCTGGCATGAGATCTACCCTCTAACAGATTTTTAAGTGTATAATACAGTATTGCTGTCTGTAGGCACAATGCTGCACAGCAGATCTCTAGAACTTACCTTGTATAACTGAAATTTTATACTCATTGATTAGCAACAGCCCCAAATTATTGAAACCTCCTTGAAGCCTAAATTTCAGAAATG... |
Task1_train_24045 | Gene NF1 (neurofibromin 1) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hereditary cancer-predisposing syndrome | TATTTTCTTTCTTGTTCACCAGAGCCACACCAGCTACCTTTCTGTCCCTCCTTGTTAGACTTATTTCTGCTTTAGAGCACCCTTGCTGCTGCCACCACCTGAAATGCTTCTCTTCTGGTATTTTATTTTGGTGAGAACACCTGGCATGAGATCTACCCTCTAACAGATTTTTAAGTGTATAATACAGTATTGCTGTCTGTAGGCACAATGCTGCACAGCAGATCTCTAGAACTTACCTTGTATAACTGAAATTTTATACTCATTGATTAGCAACAGCCCCAAATTATTGAAACCTCCTTGAAGCCTAAATTTCAGAAATG... | TATTTTCTTTCTTGTTCACCAGAGCCACACCAGCTACCTTTCTGTCCCTCCTTGTTAGACTTATTTCTGCTTTAGAGCACCCTTGCTGCTGCCACCACCTGAAATGCTTCTCTTCTGGTATTTTATTTTGGTGAGAACACCTGGCATGAGATCTACCCTCTAACAGATTTTTAAGTGTATAATACAGTATTGCTGTCTGTAGGCACAATGCTGCACAGCAGATCTCTAGAACTTACCTTGTATAACTGAAATTTTATACTCATTGATTAGCAACAGCCCCAAATTATTGAAACCTCCTTGAAGCCTAAATTTCAGAAATG... |
Task1_train_24046 | The gene NF1 (neurofibromin 1) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Cardiovascular phenotype | TATTTTCTTTCTTGTTCACCAGAGCCACACCAGCTACCTTTCTGTCCCTCCTTGTTAGACTTATTTCTGCTTTAGAGCACCCTTGCTGCTGCCACCACCTGAAATGCTTCTCTTCTGGTATTTTATTTTGGTGAGAACACCTGGCATGAGATCTACCCTCTAACAGATTTTTAAGTGTATAATACAGTATTGCTGTCTGTAGGCACAATGCTGCACAGCAGATCTCTAGAACTTACCTTGTATAACTGAAATTTTATACTCATTGATTAGCAACAGCCCCAAATTATTGAAACCTCCTTGAAGCCTAAATTTCAGAAATG... | TATTTTCTTTCTTGTTCACCAGAGCCACACCAGCTACCTTTCTGTCCCTCCTTGTTAGACTTATTTCTGCTTTAGAGCACCCTTGCTGCTGCCACCACCTGAAATGCTTCTCTTCTGGTATTTTATTTTGGTGAGAACACCTGGCATGAGATCTACCCTCTAACAGATTTTTAAGTGTATAATACAGTATTGCTGTCTGTAGGCACAATGCTGCACAGCAGATCTCTAGAACTTACCTTGTATAACTGAAATTTTATACTCATTGATTAGCAACAGCCCCAAATTATTGAAACCTCCTTGAAGCCTAAATTTCAGAAATG... |
Task1_train_24047 | A mutation in NF1 (neurofibromin 1), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Neurofibromatosis, type 1 | ATAAGGTCAAGAGATCTAGACCATGCCGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTACCTGGGCGTGGTGGTGGTGCGCCTGTAGTCCCATCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCCGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGCAATACTGATTGGATATGGGGAATAATGAAGTAGAGCAGGAAAAAGTGACATCAGAGATGGCCTGAATGATGTGATTAAGAAAG... | ATAAGGTCAAGAGATCTAGACCATGCCGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTACCTGGGCGTGGTGGTGGTGCGCCTGTAGTCCCATCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCCGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGCAATACTGATTGGATATGGGGAATAATGAAGTAGAGCAGGAAAAAGTGACATCAGAGATGGCCTGAATGATGTGATTAAGAAAG... |
Task1_train_24048 | The gene NF1 (neurofibromin 1) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Neurofibromatosis, type 1 | GTTTCGAACTCCTAGCCTCAAGTGATCTGCCCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCAGAGAATTGTCTAAGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTA... | GTTTCGAACTCCTAGCCTCAAGTGATCTGCCCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCAGAGAATTGTCTAAGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTA... |
Task1_train_24049 | A variant has been detected on Chromosome 17 in NF1 (neurofibromin 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Neurofibromatosis, type 1 | TTCGAACTCCTAGCCTCAAGTGATCTGCCCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCAGAGAATTGTCTAAGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGC... | TTCGAACTCCTAGCCTCAAGTGATCTGCCCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCAGAGAATTGTCTAAGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGC... |
Task1_train_24050 | Mutation context: Chromosome 17, Gene NF1 (neurofibromin 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Neurofibromatosis, type 1 | AGCCTCAAGTGATCTGCCCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCAGAGAATTGTCTAAGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTG... | AGCCTCAAGTGATCTGCCCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCAGAGAATTGTCTAAGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTG... |
Task1_train_24051 | This mutation is located in gene NF1 (neurofibromin 1) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Neurofibromatosis, type 1 | AGCCTCAAGTGATCTGCCCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCAGAGAATTGTCTAAGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTG... | AGCCTCAAGTGATCTGCCCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCAGAGAATTGTCTAAGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTG... |
Task1_train_24052 | A variant found in Chromosome 17 affects NF1 (neurofibromin 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Neurofibromatosis, type 1 | GAGAATTGTCTAAGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGC... | GAGAATTGTCTAAGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGC... |
Task1_train_24053 | An alteration has been detected in NF1 (neurofibromin 1) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Café-au-lait macules with pulmonary stenosis | AGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGCAGCTATATTTAG... | AGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGCAGCTATATTTAG... |
Task1_train_24054 | Gene NF1 (neurofibromin 1), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Juvenile myelomonocytic leukemia | AGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGCAGCTATATTTAG... | AGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGCAGCTATATTTAG... |
Task1_train_24055 | A genetic alteration is present in NF1 (neurofibromin 1) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Neurofibromatosis, type 1 | AGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGCAGCTATATTTAG... | AGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGCAGCTATATTTAG... |
Task1_train_24056 | With a mutation on Chromosome 17 in gene NF1 (neurofibromin 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Hereditary cancer-predisposing syndrome | AGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGCAGCTATATTTAG... | AGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGCAGCTATATTTAG... |
Task1_train_24057 | A mutation in NF1 (neurofibromin 1), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Cardiovascular phenotype | AGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGCAGCTATATTTAG... | AGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGCAGCTATATTTAG... |
Task1_train_24058 | A variant has been detected on Chromosome 17 in NF1 (neurofibromin 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Axillary freckling | AGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGCAGCTATATTTAG... | AGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGCAGCTATATTTAG... |
Task1_train_24059 | This genomic variant is located on Chromosome 17, within the NF1 (neurofibromin 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Cafe au lait spots, multiple | AGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGCAGCTATATTTAG... | AGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGCAGCTATATTTAG... |
Task1_train_24060 | The gene NF1 (neurofibromin 1) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Optic nerve glioma | AGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGCAGCTATATTTAG... | AGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGCAGCTATATTTAG... |
Task1_train_24061 | A variant has been detected on Chromosome 17 in NF1 (neurofibromin 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Neurofibroma | AGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGCAGCTATATTTAG... | AGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGCAGCTATATTTAG... |
Task1_train_24062 | Here is a genetic alteration in NF1 (neurofibromin 1) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Juvenile myelomonocytic leukemia | AGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGCAGCTATATTTAG... | AGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGCAGCTATATTTAG... |
Task1_train_24063 | Gene NF1 (neurofibromin 1) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Café-au-lait macules with pulmonary stenosis | AGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGCAGCTATATTTAG... | AGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGCAGCTATATTTAG... |
Task1_train_24064 | This variant lies on Chromosome 17 and affects the gene NF1 (neurofibromin 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Neurofibromatosis-Noonan syndrome | AGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGCAGCTATATTTAG... | AGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGCAGCTATATTTAG... |
Task1_train_24065 | Located on Chromosome 17, this mutation impacts NF1 (neurofibromin 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Neurofibromatosis, type 1 | AGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGCAGCTATATTTAG... | AGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGCAGCTATATTTAG... |
Task1_train_24066 | Assess the clinical impact of this variant on gene NF1 (neurofibromin 1), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Neurofibromatosis, familial spinal | AGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGCAGCTATATTTAG... | AGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGCAGCTATATTTAG... |
Task1_train_24067 | This alteration in NF1 (neurofibromin 1) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Pheochromocytoma | AGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGCAGCTATATTTAG... | AGATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGCAGCTATATTTAG... |
Task1_train_24068 | A mutation in NF1 (neurofibromin 1), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Neurofibromatosis, type 1 | GATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGCAGCTATATTTAGT... | GATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGCAGCTATATTTAGT... |
Task1_train_24069 | Given this variant in gene NF1 (neurofibromin 1) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Cardiovascular phenotype | GATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGCAGCTATATTTAGT... | GATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGCAGCTATATTTAGT... |
Task1_train_24070 | The following genetic variant occurs in NF1 (neurofibromin 1) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hereditary cancer-predisposing syndrome | GATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGCAGCTATATTTAGT... | GATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGCAGCTATATTTAGT... |
Task1_train_24071 | Gene NF1 (neurofibromin 1) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Juvenile myelomonocytic leukemia | GATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGCAGCTATATTTAGT... | GATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGCAGCTATATTTAGT... |
Task1_train_24072 | The gene NF1 (neurofibromin 1), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Neurofibromatosis, type 1 | GATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGCAGCTATATTTAGT... | GATTAAAATTTGGGAGTTTTAGAAAACCACTCAGTAGCAATGATGGTCTATGAATATTCTAAAATTATGTGAAGAATTTTGTGTGTGTGAATGCATACATTCATTTTTCTAACCTTTATCAGATTTCAAAGAGGTTCCTCGTCCCCAGAAGGTTCAACACCGTACTGGAATAGTCAAAGCACTGGAATTTTTTCTTAATTTTACATCTTTCTATAGTTTTAGCTAAAACTTCTGTATCTAATTCTAAATGTATATATTTGAGCTAAAAATAAATGGTATTTAGGTTTTAAAGCCATTCTAATAAAGCAGCTATATTTAGT... |
Task1_train_24073 | The gene NF1 (neurofibromin 1), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Neurofibromatosis, type 1 | TTATAAGCAGTGATAACACATTTAAAATGTGGACTGCATGAAGCACTACATTGAACAAGATGAAGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTA... | TTATAAGCAGTGATAACACATTTAAAATGTGGACTGCATGAAGCACTACATTGAACAAGATGAAGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTA... |
Task1_train_24074 | The variant affects gene NF1 (neurofibromin 1), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Cardiovascular phenotype | TTATAAGCAGTGATAACACATTTAAAATGTGGACTGCATGAAGCACTACATTGAACAAGATGAAGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTA... | TTATAAGCAGTGATAACACATTTAAAATGTGGACTGCATGAAGCACTACATTGAACAAGATGAAGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTA... |
Task1_train_24075 | Here’s a variant in NF1 (neurofibromin 1) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hereditary cancer-predisposing syndrome | TTATAAGCAGTGATAACACATTTAAAATGTGGACTGCATGAAGCACTACATTGAACAAGATGAAGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTA... | TTATAAGCAGTGATAACACATTTAAAATGTGGACTGCATGAAGCACTACATTGAACAAGATGAAGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTA... |
Task1_train_24076 | A variant affecting Chromosome 17, within the gene NF1 (neurofibromin 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Neurofibromatosis, type 1 | TTATAAGCAGTGATAACACATTTAAAATGTGGACTGCATGAAGCACTACATTGAACAAGATGAAGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTA... | TTATAAGCAGTGATAACACATTTAAAATGTGGACTGCATGAAGCACTACATTGAACAAGATGAAGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTA... |
Task1_train_24077 | Mutation context: Chromosome 17, Gene NF1 (neurofibromin 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Cardiovascular phenotype | TTATAAGCAGTGATAACACATTTAAAATGTGGACTGCATGAAGCACTACATTGAACAAGATGAAGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTA... | TTATAAGCAGTGATAACACATTTAAAATGTGGACTGCATGAAGCACTACATTGAACAAGATGAAGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTA... |
Task1_train_24078 | This genomic variant is located on Chromosome 17, within the NF1 (neurofibromin 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Hereditary cancer-predisposing syndrome | TTATAAGCAGTGATAACACATTTAAAATGTGGACTGCATGAAGCACTACATTGAACAAGATGAAGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTA... | TTATAAGCAGTGATAACACATTTAAAATGTGGACTGCATGAAGCACTACATTGAACAAGATGAAGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTA... |
Task1_train_24079 | The following genetic variant occurs in NF1 (neurofibromin 1) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Neurofibromatosis, type 1 | TATAAGCAGTGATAACACATTTAAAATGTGGACTGCATGAAGCACTACATTGAACAAGATGAAGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTAG... | TATAAGCAGTGATAACACATTTAAAATGTGGACTGCATGAAGCACTACATTGAACAAGATGAAGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTAG... |
Task1_train_24080 | This alteration in NF1 (neurofibromin 1) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Juvenile myelomonocytic leukemia | TATAAGCAGTGATAACACATTTAAAATGTGGACTGCATGAAGCACTACATTGAACAAGATGAAGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTAG... | TATAAGCAGTGATAACACATTTAAAATGTGGACTGCATGAAGCACTACATTGAACAAGATGAAGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTAG... |
Task1_train_24081 | A genomic change on Chromosome 17 affects NF1 (neurofibromin 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hereditary cancer-predisposing syndrome | ATAACACATTTAAAATGTGGACTGCATGAAGCACTACATTGAACAAGATGAAGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTAGCCGCACTAAGC... | ATAACACATTTAAAATGTGGACTGCATGAAGCACTACATTGAACAAGATGAAGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTAGCCGCACTAAGC... |
Task1_train_24082 | Given a variant located on Chromosome 17 and affecting NF1 (neurofibromin 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Cardiovascular phenotype | ATAACACATTTAAAATGTGGACTGCATGAAGCACTACATTGAACAAGATGAAGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTAGCCGCACTAAGC... | ATAACACATTTAAAATGTGGACTGCATGAAGCACTACATTGAACAAGATGAAGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTAGCCGCACTAAGC... |
Task1_train_24083 | Gene NF1 (neurofibromin 1) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Neurofibromatosis, type 1 | ATAACACATTTAAAATGTGGACTGCATGAAGCACTACATTGAACAAGATGAAGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTAGCCGCACTAAGC... | ATAACACATTTAAAATGTGGACTGCATGAAGCACTACATTGAACAAGATGAAGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTAGCCGCACTAAGC... |
Task1_train_24084 | This variant lies on Chromosome 17 and affects the gene NF1 (neurofibromin 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Neurofibromatosis, type 1 | GGACTGCATGAAGCACTACATTGAACAAGATGAAGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTAGCCGCACTAAGCAAGAATAGCTGTAGAGAT... | GGACTGCATGAAGCACTACATTGAACAAGATGAAGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTAGCCGCACTAAGCAAGAATAGCTGTAGAGAT... |
Task1_train_24085 | The following genetic variant occurs in NF1 (neurofibromin 1) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Neurofibromatosis, type 1 | GGACTGCATGAAGCACTACATTGAACAAGATGAAGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTAGCCGCACTAAGCAAGAATAGCTGTAGAGAT... | GGACTGCATGAAGCACTACATTGAACAAGATGAAGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTAGCCGCACTAAGCAAGAATAGCTGTAGAGAT... |
Task1_train_24086 | This variant lies on Chromosome 17 and affects the gene NF1 (neurofibromin 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Cardiovascular phenotype | GGACTGCATGAAGCACTACATTGAACAAGATGAAGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTAGCCGCACTAAGCAAGAATAGCTGTAGAGAT... | GGACTGCATGAAGCACTACATTGAACAAGATGAAGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTAGCCGCACTAAGCAAGAATAGCTGTAGAGAT... |
Task1_train_24087 | Here is a mutation in NF1 (neurofibromin 1) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Hereditary cancer-predisposing syndrome | GGACTGCATGAAGCACTACATTGAACAAGATGAAGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTAGCCGCACTAAGCAAGAATAGCTGTAGAGAT... | GGACTGCATGAAGCACTACATTGAACAAGATGAAGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTAGCCGCACTAAGCAAGAATAGCTGTAGAGAT... |
Task1_train_24088 | Here is a variant affecting NF1 (neurofibromin 1) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Neurofibromatosis, type 1 | ACTGCATGAAGCACTACATTGAACAAGATGAAGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTAGCCGCACTAAGCAAGAATAGCTGTAGAGATTA... | ACTGCATGAAGCACTACATTGAACAAGATGAAGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTAGCCGCACTAAGCAAGAATAGCTGTAGAGATTA... |
Task1_train_24089 | Mutation context: Chromosome 17, Gene NF1 (neurofibromin 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Neurofibromatosis, type 1 | CTGCATGAAGCACTACATTGAACAAGATGAAGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTAGCCGCACTAAGCAAGAATAGCTGTAGAGATTAA... | CTGCATGAAGCACTACATTGAACAAGATGAAGTGAAATAATCCCCATTTTTTCCAGAGTTAATCTGGAGTCAGCCTGTCATAATTTGTGTCATAATTTCCTGTCATAAATTATGACAGGAAATATTTATTGAAGCATTGTGAAAAAAATAGCTACGTGATATTCCGCATGTAAATCTGGGTCCCCTCCCACCAATATCCTTTGAAATGAAGGTTTATCCTTGACATCACAGAATATTGAGTGGAATGCTACAGTTTTGTAGTCACTGCTACTTTAAACAGCAGTTTAGCCGCACTAAGCAAGAATAGCTGTAGAGATTAA... |
Task1_train_24090 | This mutation occurs in NF1 (neurofibromin 1) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hereditary cancer-predisposing syndrome | GCGTTTCCCTCAGAACAGCATCGGTGCAGTAGGAAGTGCCATGTTCCTCAGATTTATCAATCCTGCCATTGTCTCACCGTATGAAGCAGGGATTTTAGATAAAAAGCCACCACCTAGAATCGAAAGGGGCTTGAAGTTAATGTCAAAGGTGAATTATTTTGATAATCTAGCTATCTTAAATTCCCCTTCCAACTAAATTTTCAGCTTTTCTTACAGTACTTCCTCTTACATTTATATTTGAAATACCCTATGGTTTTCAGTTATGTGCTTTTGTTTTATTTGTTTATATTACAAAGGAATTCATTAGTTAGGTACCTGAT... | GCGTTTCCCTCAGAACAGCATCGGTGCAGTAGGAAGTGCCATGTTCCTCAGATTTATCAATCCTGCCATTGTCTCACCGTATGAAGCAGGGATTTTAGATAAAAAGCCACCACCTAGAATCGAAAGGGGCTTGAAGTTAATGTCAAAGGTGAATTATTTTGATAATCTAGCTATCTTAAATTCCCCTTCCAACTAAATTTTCAGCTTTTCTTACAGTACTTCCTCTTACATTTATATTTGAAATACCCTATGGTTTTCAGTTATGTGCTTTTGTTTTATTTGTTTATATTACAAAGGAATTCATTAGTTAGGTACCTGAT... |
Task1_train_24091 | Given this context: Chromosome 17, gene NF1 (neurofibromin 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Cardiovascular phenotype | GCGTTTCCCTCAGAACAGCATCGGTGCAGTAGGAAGTGCCATGTTCCTCAGATTTATCAATCCTGCCATTGTCTCACCGTATGAAGCAGGGATTTTAGATAAAAAGCCACCACCTAGAATCGAAAGGGGCTTGAAGTTAATGTCAAAGGTGAATTATTTTGATAATCTAGCTATCTTAAATTCCCCTTCCAACTAAATTTTCAGCTTTTCTTACAGTACTTCCTCTTACATTTATATTTGAAATACCCTATGGTTTTCAGTTATGTGCTTTTGTTTTATTTGTTTATATTACAAAGGAATTCATTAGTTAGGTACCTGAT... | GCGTTTCCCTCAGAACAGCATCGGTGCAGTAGGAAGTGCCATGTTCCTCAGATTTATCAATCCTGCCATTGTCTCACCGTATGAAGCAGGGATTTTAGATAAAAAGCCACCACCTAGAATCGAAAGGGGCTTGAAGTTAATGTCAAAGGTGAATTATTTTGATAATCTAGCTATCTTAAATTCCCCTTCCAACTAAATTTTCAGCTTTTCTTACAGTACTTCCTCTTACATTTATATTTGAAATACCCTATGGTTTTCAGTTATGTGCTTTTGTTTTATTTGTTTATATTACAAAGGAATTCATTAGTTAGGTACCTGAT... |
Task1_train_24092 | Given a variant located on Chromosome 17 and affecting NF1 (neurofibromin 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Neurofibromatosis, type 1 | GCGTTTCCCTCAGAACAGCATCGGTGCAGTAGGAAGTGCCATGTTCCTCAGATTTATCAATCCTGCCATTGTCTCACCGTATGAAGCAGGGATTTTAGATAAAAAGCCACCACCTAGAATCGAAAGGGGCTTGAAGTTAATGTCAAAGGTGAATTATTTTGATAATCTAGCTATCTTAAATTCCCCTTCCAACTAAATTTTCAGCTTTTCTTACAGTACTTCCTCTTACATTTATATTTGAAATACCCTATGGTTTTCAGTTATGTGCTTTTGTTTTATTTGTTTATATTACAAAGGAATTCATTAGTTAGGTACCTGAT... | GCGTTTCCCTCAGAACAGCATCGGTGCAGTAGGAAGTGCCATGTTCCTCAGATTTATCAATCCTGCCATTGTCTCACCGTATGAAGCAGGGATTTTAGATAAAAAGCCACCACCTAGAATCGAAAGGGGCTTGAAGTTAATGTCAAAGGTGAATTATTTTGATAATCTAGCTATCTTAAATTCCCCTTCCAACTAAATTTTCAGCTTTTCTTACAGTACTTCCTCTTACATTTATATTTGAAATACCCTATGGTTTTCAGTTATGTGCTTTTGTTTTATTTGTTTATATTACAAAGGAATTCATTAGTTAGGTACCTGAT... |
Task1_train_24093 | Gene NF1 (neurofibromin 1) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Neurofibromatosis, type 1 | AAGTGCCATGTTCCTCAGATTTATCAATCCTGCCATTGTCTCACCGTATGAAGCAGGGATTTTAGATAAAAAGCCACCACCTAGAATCGAAAGGGGCTTGAAGTTAATGTCAAAGGTGAATTATTTTGATAATCTAGCTATCTTAAATTCCCCTTCCAACTAAATTTTCAGCTTTTCTTACAGTACTTCCTCTTACATTTATATTTGAAATACCCTATGGTTTTCAGTTATGTGCTTTTGTTTTATTTGTTTATATTACAAAGGAATTCATTAGTTAGGTACCTGATGGACCTTATTTTCATGATAAAACATTTTATTAT... | AAGTGCCATGTTCCTCAGATTTATCAATCCTGCCATTGTCTCACCGTATGAAGCAGGGATTTTAGATAAAAAGCCACCACCTAGAATCGAAAGGGGCTTGAAGTTAATGTCAAAGGTGAATTATTTTGATAATCTAGCTATCTTAAATTCCCCTTCCAACTAAATTTTCAGCTTTTCTTACAGTACTTCCTCTTACATTTATATTTGAAATACCCTATGGTTTTCAGTTATGTGCTTTTGTTTTATTTGTTTATATTACAAAGGAATTCATTAGTTAGGTACCTGATGGACCTTATTTTCATGATAAAACATTTTATTAT... |
Task1_train_24094 | A genomic change on Chromosome 17 affects NF1 (neurofibromin 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Neurofibromatosis, type 1 | AGTTATTGGTCTATCTGTAAAGTAGGGATAAACTCTTTGCCTGAGTTGTTTTTAGAGAAAAAAATGAGATAATTCATAAGAAAGCGCTTTGTAAATTTATGTCTGGAATTCTGCTTTTCATGCAGTGTGAATCTAATTGATCCTCATCATCTAAGCTAGCCTTGTACAACTCTCTCTTCCAGTTTATCATCATTGTAGTTGTTACTGACTTTTTTTCTGTTAGAGAAATTGGAGTTGAAAAGGTATATTGCTGAATGACAAGCCATGTTGGAAAGAGAGTGAATGTCAGCATAGGATTCATATTCTGGCACTCTGTGTAC... | AGTTATTGGTCTATCTGTAAAGTAGGGATAAACTCTTTGCCTGAGTTGTTTTTAGAGAAAAAAATGAGATAATTCATAAGAAAGCGCTTTGTAAATTTATGTCTGGAATTCTGCTTTTCATGCAGTGTGAATCTAATTGATCCTCATCATCTAAGCTAGCCTTGTACAACTCTCTCTTCCAGTTTATCATCATTGTAGTTGTTACTGACTTTTTTTCTGTTAGAGAAATTGGAGTTGAAAAGGTATATTGCTGAATGACAAGCCATGTTGGAAAGAGAGTGAATGTCAGCATAGGATTCATATTCTGGCACTCTGTGTAC... |
Task1_train_24095 | This variant affects gene NF1 (neurofibromin 1) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Neurofibromatosis, type 1 | CTCTTTGCCTGAGTTGTTTTTAGAGAAAAAAATGAGATAATTCATAAGAAAGCGCTTTGTAAATTTATGTCTGGAATTCTGCTTTTCATGCAGTGTGAATCTAATTGATCCTCATCATCTAAGCTAGCCTTGTACAACTCTCTCTTCCAGTTTATCATCATTGTAGTTGTTACTGACTTTTTTTCTGTTAGAGAAATTGGAGTTGAAAAGGTATATTGCTGAATGACAAGCCATGTTGGAAAGAGAGTGAATGTCAGCATAGGATTCATATTCTGGCACTCTGTGTACCCATACAAAGTTAAAAGGATCAAAGTTTTAAT... | CTCTTTGCCTGAGTTGTTTTTAGAGAAAAAAATGAGATAATTCATAAGAAAGCGCTTTGTAAATTTATGTCTGGAATTCTGCTTTTCATGCAGTGTGAATCTAATTGATCCTCATCATCTAAGCTAGCCTTGTACAACTCTCTCTTCCAGTTTATCATCATTGTAGTTGTTACTGACTTTTTTTCTGTTAGAGAAATTGGAGTTGAAAAGGTATATTGCTGAATGACAAGCCATGTTGGAAAGAGAGTGAATGTCAGCATAGGATTCATATTCTGGCACTCTGTGTACCCATACAAAGTTAAAAGGATCAAAGTTTTAAT... |
Task1_train_24096 | This variant impacts the gene NF1 (neurofibromin 1) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Neurofibromatosis, type 1 | ATATTAACCAGGTGTGATGGTACGCACCTGTGGTCCCAGCTACCTGGGAGGCTGAGGTGGGAGGATTGCTTGAGGATGCAGTGAACTGTGATTGCACCAGTGCATTTCCAGCCTAGGTGACAGAATGAGACCTTGTCTATAAATAAAGAAATAAGTAAAAATATAAATAAGTAAAAAGAAATATAAGTAAATATAAATATAAATAAATATAAATATAAAAATGAATGAATCAAAACAGTTTTTAAATTTGACATCACTGAGGACATCCTAGCCATTTTTCTAGAAAAATATTTTTATTATTCCTTTTTTCTGAGATCCTA... | ATATTAACCAGGTGTGATGGTACGCACCTGTGGTCCCAGCTACCTGGGAGGCTGAGGTGGGAGGATTGCTTGAGGATGCAGTGAACTGTGATTGCACCAGTGCATTTCCAGCCTAGGTGACAGAATGAGACCTTGTCTATAAATAAAGAAATAAGTAAAAATATAAATAAGTAAAAAGAAATATAAGTAAATATAAATATAAATAAATATAAATATAAAAATGAATGAATCAAAACAGTTTTTAAATTTGACATCACTGAGGACATCCTAGCCATTTTTCTAGAAAAATATTTTTATTATTCCTTTTTTCTGAGATCCTA... |
Task1_train_24097 | A sequence alteration has been identified in NF1 (neurofibromin 1) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Neurofibromatosis, type 1 | TGTCTTAATAACAGTATTTTCTCTGCATTTCCTTTGATAAGTGATTACTTTCTACCTCATATCTTCTATCTTGAAATATTTGTGTTGTTTTAAAATCATTTGACTTGTCATATTTTTATCTTATTTTCTCCCAACAAGATTAAAAATTCTGAGGTGAAGTTTTTTATTGATACATGATAATTTGTACATATTAATGGAGTATGTGTGATTTTTTTGGTTTTTTTTGTTTTTGTTTTTGTTGGAATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAACTCCCCTCCCAGGTTCAAGCA... | TGTCTTAATAACAGTATTTTCTCTGCATTTCCTTTGATAAGTGATTACTTTCTACCTCATATCTTCTATCTTGAAATATTTGTGTTGTTTTAAAATCATTTGACTTGTCATATTTTTATCTTATTTTCTCCCAACAAGATTAAAAATTCTGAGGTGAAGTTTTTTATTGATACATGATAATTTGTACATATTAATGGAGTATGTGTGATTTTTTTGGTTTTTTTTGTTTTTGTTTTTGTTGGAATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAACTCCCCTCCCAGGTTCAAGCA... |
Task1_train_24098 | This variant impacts the gene NF1 (neurofibromin 1) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Neurofibromatosis, type 1 | TTTTCTCTGCATTTCCTTTGATAAGTGATTACTTTCTACCTCATATCTTCTATCTTGAAATATTTGTGTTGTTTTAAAATCATTTGACTTGTCATATTTTTATCTTATTTTCTCCCAACAAGATTAAAAATTCTGAGGTGAAGTTTTTTATTGATACATGATAATTTGTACATATTAATGGAGTATGTGTGATTTTTTTGGTTTTTTTTGTTTTTGTTTTTGTTGGAATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAACTCCCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGC... | TTTTCTCTGCATTTCCTTTGATAAGTGATTACTTTCTACCTCATATCTTCTATCTTGAAATATTTGTGTTGTTTTAAAATCATTTGACTTGTCATATTTTTATCTTATTTTCTCCCAACAAGATTAAAAATTCTGAGGTGAAGTTTTTTATTGATACATGATAATTTGTACATATTAATGGAGTATGTGTGATTTTTTTGGTTTTTTTTGTTTTTGTTTTTGTTGGAATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAACTCCCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGC... |
Task1_train_24099 | A variant affecting Chromosome 17, within the gene NF1 (neurofibromin 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Neurofibromatosis, type 1 | TTTTCTCTGCATTTCCTTTGATAAGTGATTACTTTCTACCTCATATCTTCTATCTTGAAATATTTGTGTTGTTTTAAAATCATTTGACTTGTCATATTTTTATCTTATTTTCTCCCAACAAGATTAAAAATTCTGAGGTGAAGTTTTTTATTGATACATGATAATTTGTACATATTAATGGAGTATGTGTGATTTTTTTGGTTTTTTTTGTTTTTGTTTTTGTTGGAATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAACTCCCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGC... | TTTTCTCTGCATTTCCTTTGATAAGTGATTACTTTCTACCTCATATCTTCTATCTTGAAATATTTGTGTTGTTTTAAAATCATTTGACTTGTCATATTTTTATCTTATTTTCTCCCAACAAGATTAAAAATTCTGAGGTGAAGTTTTTTATTGATACATGATAATTTGTACATATTAATGGAGTATGTGTGATTTTTTTGGTTTTTTTTGTTTTTGTTTTTGTTGGAATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAACTCCCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGC... |
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