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_23100 | A variant was discovered in gene FANCA (FA complementation group A), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Fanconi anemia | ACCCACGCTGTGCGGGACCGGGGTGCTCCACCCACGCTGTCCGGGACCGGGGTGCTCCACCCACGCTGTCCGGAACTGGGGTGCTCCACCCACACTGTCTGGAACTGGCACAGAATGTATCTAAGTATCACTTAAGTAATTCAGAAAAGAAAGAAAATCCCGCAACACATCTCAACACAACTTCCACGCAGCGGTGACCTGATGCAGCATGACCTCATGCAGCAGACAAGCCCCTCCCTCTGACCTCCTCCTTAGACTCCACCCCAGAGAGCAGCCGGGAGGAGAAACGGGGGTGAGTGAAGGAAGCGCCTGCAGAGCGG... | ACCCACGCTGTGCGGGACCGGGGTGCTCCACCCACGCTGTCCGGGACCGGGGTGCTCCACCCACGCTGTCCGGAACTGGGGTGCTCCACCCACACTGTCTGGAACTGGCACAGAATGTATCTAAGTATCACTTAAGTAATTCAGAAAAGAAAGAAAATCCCGCAACACATCTCAACACAACTTCCACGCAGCGGTGACCTGATGCAGCATGACCTCATGCAGCAGACAAGCCCCTCCCTCTGACCTCCTCCTTAGACTCCACCCCAGAGAGCAGCCGGGAGGAGAAACGGGGGTGAGTGAAGGAAGCGCCTGCAGAGCGG... |
Task1_train_23101 | Gene FANCA (FA complementation group A), found on Chromosome 16, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Fanconi anemia complementation group A | CCCACGCTGTGCGGGACCGGGGTGCTCCACCCACGCTGTCCGGGACCGGGGTGCTCCACCCACGCTGTCCGGAACTGGGGTGCTCCACCCACACTGTCTGGAACTGGCACAGAATGTATCTAAGTATCACTTAAGTAATTCAGAAAAGAAAGAAAATCCCGCAACACATCTCAACACAACTTCCACGCAGCGGTGACCTGATGCAGCATGACCTCATGCAGCAGACAAGCCCCTCCCTCTGACCTCCTCCTTAGACTCCACCCCAGAGAGCAGCCGGGAGGAGAAACGGGGGTGAGTGAAGGAAGCGCCTGCAGAGCGGG... | CCCACGCTGTGCGGGACCGGGGTGCTCCACCCACGCTGTCCGGGACCGGGGTGCTCCACCCACGCTGTCCGGAACTGGGGTGCTCCACCCACACTGTCTGGAACTGGCACAGAATGTATCTAAGTATCACTTAAGTAATTCAGAAAAGAAAGAAAATCCCGCAACACATCTCAACACAACTTCCACGCAGCGGTGACCTGATGCAGCATGACCTCATGCAGCAGACAAGCCCCTCCCTCTGACCTCCTCCTTAGACTCCACCCCAGAGAGCAGCCGGGAGGAGAAACGGGGGTGAGTGAAGGAAGCGCCTGCAGAGCGGG... |
Task1_train_23102 | Consider a variant on Chromosome 16 in gene FANCA (FA complementation group A). Determine its clinical classification and disease relevance. | Pathogenic; Fanconi anemia complementation group A | GGGACCGGGGTGCTCCACCCACGCTGTCCGGGACCGGGGTGCTCCACCCACGCTGTCCGGAACTGGGGTGCTCCACCCACACTGTCTGGAACTGGCACAGAATGTATCTAAGTATCACTTAAGTAATTCAGAAAAGAAAGAAAATCCCGCAACACATCTCAACACAACTTCCACGCAGCGGTGACCTGATGCAGCATGACCTCATGCAGCAGACAAGCCCCTCCCTCTGACCTCCTCCTTAGACTCCACCCCAGAGAGCAGCCGGGAGGAGAAACGGGGGTGAGTGAAGGAAGCGCCTGCAGAGCGGGCTTGGCACGACC... | GGGACCGGGGTGCTCCACCCACGCTGTCCGGGACCGGGGTGCTCCACCCACGCTGTCCGGAACTGGGGTGCTCCACCCACACTGTCTGGAACTGGCACAGAATGTATCTAAGTATCACTTAAGTAATTCAGAAAAGAAAGAAAATCCCGCAACACATCTCAACACAACTTCCACGCAGCGGTGACCTGATGCAGCATGACCTCATGCAGCAGACAAGCCCCTCCCTCTGACCTCCTCCTTAGACTCCACCCCAGAGAGCAGCCGGGAGGAGAAACGGGGGTGAGTGAAGGAAGCGCCTGCAGAGCGGGCTTGGCACGACC... |
Task1_train_23103 | This variant impacts the gene FANCA (FA complementation group A) on Chromosome 16. Is the change likely to result in a pathogenic outcome? | Pathogenic; Fanconi anemia complementation group A | TTGAGACCATCCTAGCTAACACGGTGAAACCCTGTTTCTACTAAAAATACGAAAAAAAAAAAAAAAAAGGGTTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATGATGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAGTTAGCTGGGCGCGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCCGAGTCAGGAGAATCCCTTGAACCCAGAAGGCTGAGGTTGCAGTGACCCAAGATTGTGCCACTGCACTCC... | TTGAGACCATCCTAGCTAACACGGTGAAACCCTGTTTCTACTAAAAATACGAAAAAAAAAAAAAAAAAGGGTTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATGATGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAGTTAGCTGGGCGCGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCCGAGTCAGGAGAATCCCTTGAACCCAGAAGGCTGAGGTTGCAGTGACCCAAGATTGTGCCACTGCACTCC... |
Task1_train_23104 | This gene mutation involves FANCA, LOC130059837 (FA complementation group A| ATAC-STARR-seq lymphoblastoid active region 11420) on Chromosome 16. Is it associated with any clinical condition, or is it benign? | Pathogenic; Fanconi anemia complementation group A | ACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATGATGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAGTTAGCTGGGCGCGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCCGAGTCAGGAGAATCCCTTGAACCCAGAAGGCTGAGGTTGCAGTGACCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGGAAGATTCCATCTCCAAAAAAAAAAATAATAATTTAAAAATAATAAAATAATTTCACAAAAGGCTTGGCAC... | ACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATGATGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAGTTAGCTGGGCGCGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCCGAGTCAGGAGAATCCCTTGAACCCAGAAGGCTGAGGTTGCAGTGACCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGGAAGATTCCATCTCCAAAAAAAAAAATAATAATTTAAAAATAATAAAATAATTTCACAAAAGGCTTGGCAC... |
Task1_train_23105 | Given this context: Chromosome 16, gene FANCA (FA complementation group A) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Fanconi anemia complementation group A | ACACAACCCCACATTCAGAGGACCTCAGTCCAGCCCCTGGGAGGGCGCAATACACGACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTTAGGGGACCTCAGTCCAGCCCTTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGAAGGGTGCAGAGCCCCTCAGCGATCATGGCTGTGCACAGTGCTCCAGGGAAGAGCCTATGTGCAGACCTTCCTGCC... | ACACAACCCCACATTCAGAGGACCTCAGTCCAGCCCCTGGGAGGGCGCAATACACGACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTTAGGGGACCTCAGTCCAGCCCTTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGAAGGGTGCAGAGCCCCTCAGCGATCATGGCTGTGCACAGTGCTCCAGGGAAGAGCCTATGTGCAGACCTTCCTGCC... |
Task1_train_23106 | The gene FANCA (FA complementation group A) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; FANCA-related disorder | ACACAACCCCACATTCAGAGGACCTCAGTCCAGCCCCTGGGAGGGCGCAATACACGACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTTAGGGGACCTCAGTCCAGCCCTTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGAAGGGTGCAGAGCCCCTCAGCGATCATGGCTGTGCACAGTGCTCCAGGGAAGAGCCTATGTGCAGACCTTCCTGCC... | ACACAACCCCACATTCAGAGGACCTCAGTCCAGCCCCTGGGAGGGCGCAATACACGACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTTAGGGGACCTCAGTCCAGCCCTTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGAAGGGTGCAGAGCCCCTCAGCGATCATGGCTGTGCACAGTGCTCCAGGGAAGAGCCTATGTGCAGACCTTCCTGCC... |
Task1_train_23107 | Given a variant located on Chromosome 16 and affecting FANCA (FA complementation group A), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Fanconi anemia complementation group A | TCAGAGGACCTCAGTCCAGCCCCTGGGAGGGCGCAATACACGACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTTAGGGGACCTCAGTCCAGCCCTTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGAAGGGTGCAGAGCCCCTCAGCGATCATGGCTGTGCACAGTGCTCCAGGGAAGAGCCTATGTGCAGACCTTCCTGCCATCTGACTGCTTCC... | TCAGAGGACCTCAGTCCAGCCCCTGGGAGGGCGCAATACACGACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTTAGGGGACCTCAGTCCAGCCCTTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGAAGGGTGCAGAGCCCCTCAGCGATCATGGCTGTGCACAGTGCTCCAGGGAAGAGCCTATGTGCAGACCTTCCTGCCATCTGACTGCTTCC... |
Task1_train_23108 | Here is a variant affecting FANCA (FA complementation group A) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Fanconi anemia complementation group A | CAGTCGAGTTTTTAATTTTTTTTAGTAGAGACGGGGTTTCCCCATGTTGGACAGGCTGGTCTCGAACTGCTGACCTCAAGTGATCTGCCCACCTCAGCCACTCAAAGTGCTGGGATTACAGCGTTAGCCACCGTGCCTGGCCCAGCCCTCGGTTTATTTTTTGTTTTATACAGGGCCTTACTCTGATGCCCAGGCTGGAGTGCAGTCGCACAATCACAGCTCAGGGGATCACTTAAACCCAGAAGTTCAAGACCAGCTTGGGCAACACAGTGAGACCCCATCTCTCACTAGCTGGGTGTGTGGGTGTGCACCTGTGGTCT... | CAGTCGAGTTTTTAATTTTTTTTAGTAGAGACGGGGTTTCCCCATGTTGGACAGGCTGGTCTCGAACTGCTGACCTCAAGTGATCTGCCCACCTCAGCCACTCAAAGTGCTGGGATTACAGCGTTAGCCACCGTGCCTGGCCCAGCCCTCGGTTTATTTTTTGTTTTATACAGGGCCTTACTCTGATGCCCAGGCTGGAGTGCAGTCGCACAATCACAGCTCAGGGGATCACTTAAACCCAGAAGTTCAAGACCAGCTTGGGCAACACAGTGAGACCCCATCTCTCACTAGCTGGGTGTGTGGGTGTGCACCTGTGGTCT... |
Task1_train_23109 | This sequence variant lies in FANCA (FA complementation group A) on Chromosome 16. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Fanconi anemia complementation group A | CCACCTCAGCCACTCAAAGTGCTGGGATTACAGCGTTAGCCACCGTGCCTGGCCCAGCCCTCGGTTTATTTTTTGTTTTATACAGGGCCTTACTCTGATGCCCAGGCTGGAGTGCAGTCGCACAATCACAGCTCAGGGGATCACTTAAACCCAGAAGTTCAAGACCAGCTTGGGCAACACAGTGAGACCCCATCTCTCACTAGCTGGGTGTGTGGGTGTGCACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACA... | CCACCTCAGCCACTCAAAGTGCTGGGATTACAGCGTTAGCCACCGTGCCTGGCCCAGCCCTCGGTTTATTTTTTGTTTTATACAGGGCCTTACTCTGATGCCCAGGCTGGAGTGCAGTCGCACAATCACAGCTCAGGGGATCACTTAAACCCAGAAGTTCAAGACCAGCTTGGGCAACACAGTGAGACCCCATCTCTCACTAGCTGGGTGTGTGGGTGTGCACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACA... |
Task1_train_23110 | This alteration occurs within gene FANCA (FA complementation group A) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | CAAAGTGCTGGGATTACAGCGTTAGCCACCGTGCCTGGCCCAGCCCTCGGTTTATTTTTTGTTTTATACAGGGCCTTACTCTGATGCCCAGGCTGGAGTGCAGTCGCACAATCACAGCTCAGGGGATCACTTAAACCCAGAAGTTCAAGACCAGCTTGGGCAACACAGTGAGACCCCATCTCTCACTAGCTGGGTGTGTGGGTGTGCACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTG... | CAAAGTGCTGGGATTACAGCGTTAGCCACCGTGCCTGGCCCAGCCCTCGGTTTATTTTTTGTTTTATACAGGGCCTTACTCTGATGCCCAGGCTGGAGTGCAGTCGCACAATCACAGCTCAGGGGATCACTTAAACCCAGAAGTTCAAGACCAGCTTGGGCAACACAGTGAGACCCCATCTCTCACTAGCTGGGTGTGTGGGTGTGCACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTG... |
Task1_train_23111 | An alteration has been detected in FANCA (FA complementation group A) on Chromosome 16. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Fanconi anemia complementation group A | GGGTGTGCACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCC... | GGGTGTGCACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCC... |
Task1_train_23112 | Mutation context: Chromosome 16, Gene FANCA (FA complementation group A). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Fanconi anemia | GGGTGTGCACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCC... | GGGTGTGCACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCC... |
Task1_train_23113 | Consider a variant on Chromosome 16 in gene FANCA (FA complementation group A). Determine its clinical classification and disease relevance. | Pathogenic; Fanconi anemia complementation group A | ACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAC... | ACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAC... |
Task1_train_23114 | A variant on Chromosome 16 in gene FANCA (FA complementation group A) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Fanconi anemia complementation group A | ACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGCATGGTGGTGCACA... | ACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGCATGGTGGTGCACA... |
Task1_train_23115 | Here is a genetic alteration in FANCA (FA complementation group A) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Fanconi anemia | AGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACC... | AGGAAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACC... |
Task1_train_23116 | This mutation is located in gene FANCA (FA complementation group A) on Chromosome 16. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Fanconi anemia complementation group A | ACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATT... | ACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATT... |
Task1_train_23117 | Given this context: Chromosome 16, gene FANCA (FA complementation group A) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Fanconi anemia complementation group A | TATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGC... | TATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGC... |
Task1_train_23118 | This gene mutation involves FANCA (FA complementation group A) on Chromosome 16. Is it associated with any clinical condition, or is it benign? | Pathogenic; Fanconi anemia complementation group A | AGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGC... | AGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGC... |
Task1_train_23119 | This alteration occurs within gene FANCA (FA complementation group A) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; Fanconi anemia complementation group A | CGCCACTGCACTGCAGACTGGCTGACAAACCGAGACTCCGACTCAAAAAATAAATTAAAGAAAAAAAAATAAAACGCATTAGTTCATGCTAAAAATCCTTAGCAAATTAGTAAGAGGGAACTTTCTTAACATGATAAAGGGTAAGCCAGGTACAGTGGCTCATATTTGTAATCCCAGCACTTTGGGAAGTTGAAGCAGGAGGATTATTTGAGGCCAAGAGAGAGAGAAGCCTGGGCAACACAGCGAAAATCCGTGTCCTCAAAGCATTTACAAAATGGCTGGGTGTGGTGGAGCGCGCCTCTAGACCCAGCTACTTGGGA... | CGCCACTGCACTGCAGACTGGCTGACAAACCGAGACTCCGACTCAAAAAATAAATTAAAGAAAAAAAAATAAAACGCATTAGTTCATGCTAAAAATCCTTAGCAAATTAGTAAGAGGGAACTTTCTTAACATGATAAAGGGTAAGCCAGGTACAGTGGCTCATATTTGTAATCCCAGCACTTTGGGAAGTTGAAGCAGGAGGATTATTTGAGGCCAAGAGAGAGAGAAGCCTGGGCAACACAGCGAAAATCCGTGTCCTCAAAGCATTTACAAAATGGCTGGGTGTGGTGGAGCGCGCCTCTAGACCCAGCTACTTGGGA... |
Task1_train_23120 | A change on Chromosome 16 affects gene FANCA (FA complementation group A). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Fanconi anemia complementation group A | GGAGCTGAGACTCCTACAAAGAGGCAACTACTTCACCGAGGTGGTGATGGCAGGAAAACTCAATACTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCTCCCAGGCTGGAGCGTAGTAATGCAATCCCAGCTCAATGCAGCCTCAACCTCCTCGGCTTAAGTAATCATCCTGCCTCAGCCGGTAAGTAGCCAGGACCACAGGTGCTTACCACCACACCCAGCTAATTGTTACATTCTGTAGAGACCGGGGTCTCACTGTGCTGCCCAGGCTGATCTTGAACCCCTGGGCTCAAGCAATCCTCCTGCCTA... | GGAGCTGAGACTCCTACAAAGAGGCAACTACTTCACCGAGGTGGTGATGGCAGGAAAACTCAATACTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCTCCCAGGCTGGAGCGTAGTAATGCAATCCCAGCTCAATGCAGCCTCAACCTCCTCGGCTTAAGTAATCATCCTGCCTCAGCCGGTAAGTAGCCAGGACCACAGGTGCTTACCACCACACCCAGCTAATTGTTACATTCTGTAGAGACCGGGGTCTCACTGTGCTGCCCAGGCTGATCTTGAACCCCTGGGCTCAAGCAATCCTCCTGCCTA... |
Task1_train_23121 | A mutation in FANCA (FA complementation group A), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Fanconi anemia complementation group A | CCCAGGGATCCCTGAGGTCTCAGGAGCTCAGACTCAGTAGTCTCAAATGGGCCCTGGATCTTTATTTCCAAAGCCCCCTCCAGGCGAGTCTAATGCCCACTTAGGTTCAGGAACAGCTGCATAAACTTCTGTCAGAGAGCACACTGTGTGTGTTCCAAAGAAAAAGGAAGAATATGTGATACGGCTGAAGAAATGAAGTACTTGTTTCAGGACTTACGTGAAAATTAGAGACGCAAGGCTGGGCACGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCCGAGGGAGGCGGACCACTTAAGGTCAGGATTTTGAGA... | CCCAGGGATCCCTGAGGTCTCAGGAGCTCAGACTCAGTAGTCTCAAATGGGCCCTGGATCTTTATTTCCAAAGCCCCCTCCAGGCGAGTCTAATGCCCACTTAGGTTCAGGAACAGCTGCATAAACTTCTGTCAGAGAGCACACTGTGTGTGTTCCAAAGAAAAAGGAAGAATATGTGATACGGCTGAAGAAATGAAGTACTTGTTTCAGGACTTACGTGAAAATTAGAGACGCAAGGCTGGGCACGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCCGAGGGAGGCGGACCACTTAAGGTCAGGATTTTGAGA... |
Task1_train_23122 | This is a variant in FANCA (FA complementation group A), located on Chromosome 16. Is this mutation a likely cause of disease or not? | Pathogenic; Fanconi anemia complementation group A | AGAGCACACTGTGTGTGTTCCAAAGAAAAAGGAAGAATATGTGATACGGCTGAAGAAATGAAGTACTTGTTTCAGGACTTACGTGAAAATTAGAGACGCAAGGCTGGGCACGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCCGAGGGAGGCGGACCACTTAAGGTCAGGATTTTGAGACCAGCCTGACCAACATGATGAAACCCTGTCTCTACTAAAAATTAGCCAGGTGTGGTGGCGAACGCCTGTAACCCCAGCTACTCGGGAGGCGGAGGCAGGAGAATTGCTTGAACCCAGGAGGAGGAGGTTGCAGTG... | AGAGCACACTGTGTGTGTTCCAAAGAAAAAGGAAGAATATGTGATACGGCTGAAGAAATGAAGTACTTGTTTCAGGACTTACGTGAAAATTAGAGACGCAAGGCTGGGCACGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCCGAGGGAGGCGGACCACTTAAGGTCAGGATTTTGAGACCAGCCTGACCAACATGATGAAACCCTGTCTCTACTAAAAATTAGCCAGGTGTGGTGGCGAACGCCTGTAACCCCAGCTACTCGGGAGGCGGAGGCAGGAGAATTGCTTGAACCCAGGAGGAGGAGGTTGCAGTG... |
Task1_train_23123 | This sequence variant lies in FANCA (FA complementation group A) on Chromosome 16. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Fanconi anemia complementation group A | ATAAATAAAAAGGAAAGGCCAGGTGCGCTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGACGGGCGGATCATGAGGTCAGGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGAACTGGGTATGGTAGTGCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCTTGAAACGGGGCAGCGGAGTTTGCAGTGAGCCGAGAAGGTGAGCTTTCTGTACCACTGCACTCTAGCCTGGGCGACAGAGGAAGACTCCATCTCAAAAAAAAAAAAA... | ATAAATAAAAAGGAAAGGCCAGGTGCGCTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGACGGGCGGATCATGAGGTCAGGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGAACTGGGTATGGTAGTGCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCTTGAAACGGGGCAGCGGAGTTTGCAGTGAGCCGAGAAGGTGAGCTTTCTGTACCACTGCACTCTAGCCTGGGCGACAGAGGAAGACTCCATCTCAAAAAAAAAAAAA... |
Task1_train_23124 | The gene FANCA (FA complementation group A), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Fanconi anemia complementation group A | CCTGCGGCATTTTTTCAGGCTCCACAGTTCTTCTCAGATCTGAGTTTTTCTGAAATCCCCTCAAAACAAACATTTGAACAAAATCTGAAAAACCATAAAACCAAAGTTATTTATGGACATCATGGTCTCCAAGCAACTGTGAATGGCACAGACCATCCACTTCAGAGGGGCGGGTGAGCATATGGCTTGGGCCCACCAGGACCCCTGTGAGCTGCTCCTAACCTGAGGAACGCTGCAGAAGTTACTGCTCACCTGACCACAGCTACACTAGCGTTCACCAAACCCAATCAGGACCCTTAGATGAACCAGATTTTTTCCTC... | CCTGCGGCATTTTTTCAGGCTCCACAGTTCTTCTCAGATCTGAGTTTTTCTGAAATCCCCTCAAAACAAACATTTGAACAAAATCTGAAAAACCATAAAACCAAAGTTATTTATGGACATCATGGTCTCCAAGCAACTGTGAATGGCACAGACCATCCACTTCAGAGGGGCGGGTGAGCATATGGCTTGGGCCCACCAGGACCCCTGTGAGCTGCTCCTAACCTGAGGAACGCTGCAGAAGTTACTGCTCACCTGACCACAGCTACACTAGCGTTCACCAAACCCAATCAGGACCCTTAGATGAACCAGATTTTTTCCTC... |
Task1_train_23125 | Given this variant in gene FANCA (FA complementation group A) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Fanconi anemia complementation group A | ATCCCCTCAAAACAAACATTTGAACAAAATCTGAAAAACCATAAAACCAAAGTTATTTATGGACATCATGGTCTCCAAGCAACTGTGAATGGCACAGACCATCCACTTCAGAGGGGCGGGTGAGCATATGGCTTGGGCCCACCAGGACCCCTGTGAGCTGCTCCTAACCTGAGGAACGCTGCAGAAGTTACTGCTCACCTGACCACAGCTACACTAGCGTTCACCAAACCCAATCAGGACCCTTAGATGAACCAGATTTTTTCCTCTTGCACTTCTATTTGAAAGGGAACAAGTTTATAGTCAGATTTTTTTCTTTTTTT... | ATCCCCTCAAAACAAACATTTGAACAAAATCTGAAAAACCATAAAACCAAAGTTATTTATGGACATCATGGTCTCCAAGCAACTGTGAATGGCACAGACCATCCACTTCAGAGGGGCGGGTGAGCATATGGCTTGGGCCCACCAGGACCCCTGTGAGCTGCTCCTAACCTGAGGAACGCTGCAGAAGTTACTGCTCACCTGACCACAGCTACACTAGCGTTCACCAAACCCAATCAGGACCCTTAGATGAACCAGATTTTTTCCTCTTGCACTTCTATTTGAAAGGGAACAAGTTTATAGTCAGATTTTTTTCTTTTTTT... |
Task1_train_23126 | This alteration in FANCA (FA complementation group A) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Fanconi anemia complementation group A | GTTCCATTTGGACTTACGAATACACACTCTGCTACTACTGGGTAGAGTGCTCCACAGTCAGTCAGGTCAGCTGGTTTGCAGCATTCAACTTCTATATCATTCTTTTTTTTTTTTTTTTTTTTAATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATGGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGAGGCCTTCTGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAACGAGCATGCT... | GTTCCATTTGGACTTACGAATACACACTCTGCTACTACTGGGTAGAGTGCTCCACAGTCAGTCAGGTCAGCTGGTTTGCAGCATTCAACTTCTATATCATTCTTTTTTTTTTTTTTTTTTTTAATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATGGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGAGGCCTTCTGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAACGAGCATGCT... |
Task1_train_23127 | Consider a variant on Chromosome 16 in gene FANCA (FA complementation group A). Determine its clinical classification and disease relevance. | Pathogenic; Fanconi anemia | CCTTCACTGGCTCCTCGAAGCTGCCAGGACAAAGGTCAGGCTTCAGTGTGCCCTGTGCATGTCCCTTGTCTTTCTCACTCAACCCTCTCCCATTTGATAAAACAGGATCTGCTTTAGCCACTCACTGTGAACACTGTGCCTGTCACACTGCCCTGATCTCCCTGCAGCCTCCCCTTCTCATCCCCCTAACTCACACTCTATTTTTTTTTTTTTGAGACAGAGTCGCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGGTCACTGTAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCT... | CCTTCACTGGCTCCTCGAAGCTGCCAGGACAAAGGTCAGGCTTCAGTGTGCCCTGTGCATGTCCCTTGTCTTTCTCACTCAACCCTCTCCCATTTGATAAAACAGGATCTGCTTTAGCCACTCACTGTGAACACTGTGCCTGTCACACTGCCCTGATCTCCCTGCAGCCTCCCCTTCTCATCCCCCTAACTCACACTCTATTTTTTTTTTTTTGAGACAGAGTCGCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGGTCACTGTAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCT... |
Task1_train_23128 | A mutation on Chromosome 16 affecting FANCA, LOC112486223 (FA complementation group A| Sharpr-MPRA regulatory region 3988) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Fanconi anemia | GTCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGACGGGAGAATCACTTAAACCCGGGAGGTGGAGGCTGCAGTG... | GTCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGACGGGAGAATCACTTAAACCCGGGAGGTGGAGGCTGCAGTG... |
Task1_train_23129 | This variant lies on Chromosome 16 and affects the gene FANCA, LOC112486223 (FA complementation group A| Sharpr-MPRA regulatory region 3988). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Fanconi anemia complementation group A | GTCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGACGGGAGAATCACTTAAACCCGGGAGGTGGAGGCTGCAGTG... | GTCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGACGGGAGAATCACTTAAACCCGGGAGGTGGAGGCTGCAGTG... |
Task1_train_23130 | A variant was discovered in gene FANCA, LOC112486223 (FA complementation group A| Sharpr-MPRA regulatory region 3988), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Fanconi anemia | GTCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGACGGGAGAATCACTTAAACCCGGGAGGTGGAGGCTGCAGTG... | GTCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGACGGGAGAATCACTTAAACCCGGGAGGTGGAGGCTGCAGTG... |
Task1_train_23131 | The gene FANCA, LOC112486223 (FA complementation group A| Sharpr-MPRA regulatory region 3988), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Fanconi anemia complementation group A | TCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGACGGGAGAATCACTTAAACCCGGGAGGTGGAGGCTGCAGTGA... | TCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGACGGGAGAATCACTTAAACCCGGGAGGTGGAGGCTGCAGTGA... |
Task1_train_23132 | Given a variant located on Chromosome 16 and affecting FANCA, LOC112486223 (FA complementation group A| Sharpr-MPRA regulatory region 3988), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Fanconi anemia | TCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGACGGGAGAATCACTTAAACCCGGGAGGTGGAGGCTGCAGTGA... | TCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGACGGGAGAATCACTTAAACCCGGGAGGTGGAGGCTGCAGTGA... |
Task1_train_23133 | This gene mutation involves FANCA, LOC112486223 (FA complementation group A| Sharpr-MPRA regulatory region 3988) on Chromosome 16. Is it associated with any clinical condition, or is it benign? | Pathogenic; Fanconi anemia | TCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGACGGGAGAATCACTTAAACCCGGGAGGTGGAGGCTGCAGTGA... | TCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGACGGGAGAATCACTTAAACCCGGGAGGTGGAGGCTGCAGTGA... |
Task1_train_23134 | This variant impacts the gene FANCA, LOC112486223 (FA complementation group A| Sharpr-MPRA regulatory region 3988) on Chromosome 16. Is the change likely to result in a pathogenic outcome? | Pathogenic; Fanconi anemia complementation group A | TCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGACGGGAGAATCACTTAAACCCGGGAGGTGGAGGCTGCAGTGA... | TCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGACGGGAGAATCACTTAAACCCGGGAGGTGGAGGCTGCAGTGA... |
Task1_train_23135 | This alteration occurs within gene TUBB3 (tubulin beta 3 class III) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; TUBB3-related tubulinopathy | CAGACACTGCTCCCAGACGCAGCGGCCTCGGCCATCAGAGCGTGTCCCACGATGAGGTGGCAACTTCCCTGAAGGGCTTGCTCTCACCCAGGGGTGTGGTTCTCCGTGTGCACACAGATAGATAGTTCTACGTTTGCCATATACCATTTATATGCCTCACACAGATTAACCCACTTTCATTTCAAAAAGACCTCCTGTCATCGTGCCCATTGTACAGATGAGGACACTGAGACACGGAATCCTAGTGACCTGTGCAAGGTCACACAGCTGGGAAGGGTGAGGGAAGCGTCTGTGAACCCAGCAGGCCCAGCCCCTGAGTC... | CAGACACTGCTCCCAGACGCAGCGGCCTCGGCCATCAGAGCGTGTCCCACGATGAGGTGGCAACTTCCCTGAAGGGCTTGCTCTCACCCAGGGGTGTGGTTCTCCGTGTGCACACAGATAGATAGTTCTACGTTTGCCATATACCATTTATATGCCTCACACAGATTAACCCACTTTCATTTCAAAAAGACCTCCTGTCATCGTGCCCATTGTACAGATGAGGACACTGAGACACGGAATCCTAGTGACCTGTGCAAGGTCACACAGCTGGGAAGGGTGAGGGAAGCGTCTGTGAACCCAGCAGGCCCAGCCCCTGAGTC... |
Task1_train_23136 | This sequence variant lies in TUBB3 (tubulin beta 3 class III) on Chromosome 16. Is it clinically significant, and what condition might it cause if any? | Pathogenic; TUBB3-related disorder | CAGACACTGCTCCCAGACGCAGCGGCCTCGGCCATCAGAGCGTGTCCCACGATGAGGTGGCAACTTCCCTGAAGGGCTTGCTCTCACCCAGGGGTGTGGTTCTCCGTGTGCACACAGATAGATAGTTCTACGTTTGCCATATACCATTTATATGCCTCACACAGATTAACCCACTTTCATTTCAAAAAGACCTCCTGTCATCGTGCCCATTGTACAGATGAGGACACTGAGACACGGAATCCTAGTGACCTGTGCAAGGTCACACAGCTGGGAAGGGTGAGGGAAGCGTCTGTGAACCCAGCAGGCCCAGCCCCTGAGTC... | CAGACACTGCTCCCAGACGCAGCGGCCTCGGCCATCAGAGCGTGTCCCACGATGAGGTGGCAACTTCCCTGAAGGGCTTGCTCTCACCCAGGGGTGTGGTTCTCCGTGTGCACACAGATAGATAGTTCTACGTTTGCCATATACCATTTATATGCCTCACACAGATTAACCCACTTTCATTTCAAAAAGACCTCCTGTCATCGTGCCCATTGTACAGATGAGGACACTGAGACACGGAATCCTAGTGACCTGTGCAAGGTCACACAGCTGGGAAGGGTGAGGGAAGCGTCTGTGAACCCAGCAGGCCCAGCCCCTGAGTC... |
Task1_train_23137 | Given this variant in gene TUBB3 (tubulin beta 3 class III) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Inborn genetic diseases | AGGGGCACAGACAGGGATGGGGCAGGCCAGAGACTTTGGAGGCCATAAGAGGGCCTAGAGAAGGGGTCACCTGGAGGGCTTAGTCAGGGGCTCTTTAGCAACTGGTGTGAAGTGATTTCCATATCAAAGTGGTGATACACCCACCTGCCCACATGGACATGTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCT... | AGGGGCACAGACAGGGATGGGGCAGGCCAGAGACTTTGGAGGCCATAAGAGGGCCTAGAGAAGGGGTCACCTGGAGGGCTTAGTCAGGGGCTCTTTAGCAACTGGTGTGAAGTGATTTCCATATCAAAGTGGTGATACACCCACCTGCCCACATGGACATGTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCT... |
Task1_train_23138 | Located on Chromosome 16, this mutation impacts TUBB3 (tubulin beta 3 class III). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | AGGGGCACAGACAGGGATGGGGCAGGCCAGAGACTTTGGAGGCCATAAGAGGGCCTAGAGAAGGGGTCACCTGGAGGGCTTAGTCAGGGGCTCTTTAGCAACTGGTGTGAAGTGATTTCCATATCAAAGTGGTGATACACCCACCTGCCCACATGGACATGTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCT... | AGGGGCACAGACAGGGATGGGGCAGGCCAGAGACTTTGGAGGCCATAAGAGGGCCTAGAGAAGGGGTCACCTGGAGGGCTTAGTCAGGGGCTCTTTAGCAACTGGTGTGAAGTGATTTCCATATCAAAGTGGTGATACACCCACCTGCCCACATGGACATGTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCT... |
Task1_train_23139 | A sequence alteration has been identified in TUBB3 (tubulin beta 3 class III) on Chromosome 16. Is it disease-inducing or harmless? | Pathogenic; Complex cortical dysplasia with other brain malformations 1 | AGGGGCACAGACAGGGATGGGGCAGGCCAGAGACTTTGGAGGCCATAAGAGGGCCTAGAGAAGGGGTCACCTGGAGGGCTTAGTCAGGGGCTCTTTAGCAACTGGTGTGAAGTGATTTCCATATCAAAGTGGTGATACACCCACCTGCCCACATGGACATGTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCT... | AGGGGCACAGACAGGGATGGGGCAGGCCAGAGACTTTGGAGGCCATAAGAGGGCCTAGAGAAGGGGTCACCTGGAGGGCTTAGTCAGGGGCTCTTTAGCAACTGGTGTGAAGTGATTTCCATATCAAAGTGGTGATACACCCACCTGCCCACATGGACATGTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCT... |
Task1_train_23140 | A mutation in TUBB3 (tubulin beta 3 class III), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Complex cortical dysplasia with other brain malformations 1 | CTAGAGAAGGGGTCACCTGGAGGGCTTAGTCAGGGGCTCTTTAGCAACTGGTGTGAAGTGATTTCCATATCAAAGTGGTGATACACCCACCTGCCCACATGGACATGTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAG... | CTAGAGAAGGGGTCACCTGGAGGGCTTAGTCAGGGGCTCTTTAGCAACTGGTGTGAAGTGATTTCCATATCAAAGTGGTGATACACCCACCTGCCCACATGGACATGTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAG... |
Task1_train_23141 | Chromosome 16 houses a mutation in gene TUBB3 (tubulin beta 3 class III). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Complex cortical dysplasia with other brain malformations 1 | CTCTTTAGCAACTGGTGTGAAGTGATTTCCATATCAAAGTGGTGATACACCCACCTGCCCACATGGACATGTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAGGGTGAAGAAAGTTGCTGAAGCTTGCCTTTGGTCCAG... | CTCTTTAGCAACTGGTGTGAAGTGATTTCCATATCAAAGTGGTGATACACCCACCTGCCCACATGGACATGTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAGGGTGAAGAAAGTTGCTGAAGCTTGCCTTTGGTCCAG... |
Task1_train_23142 | A genomic change on Chromosome 16 affects TUBB3 (tubulin beta 3 class III). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | GTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAGGGTGAAGAAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAA... | GTGATTTAAAATTTTATTTAATTTAATAGAGACAGTCTCGATATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAGGGTGAAGAAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAA... |
Task1_train_23143 | A variant has been detected on Chromosome 16 in TUBB3 (tubulin beta 3 class III). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | CAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAGGGTGAAGAAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGG... | CAAAGTGTTGGGAGTGCAGACACGAGCCCCTGCATCTGGTGGACGTCTGACTGAATCCTGCCTGTCCTGCTCCGTCCTGTCCTGCTCCGTCCTTAAACACAGTGAGGCTTAAGGGTGAAGAAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGG... |
Task1_train_23144 | Assess the clinical impact of this variant on gene TUBB3 (tubulin beta 3 class III), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | AAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCA... | AAAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCA... |
Task1_train_23145 | Assess the clinical impact of this variant on gene TUBB3 (tubulin beta 3 class III), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Complex cortical dysplasia with other brain malformations 1 | AAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAA... | AAGTTGCTGAAGCTTGCCTTTGGTCCAGGACTCTGACTTCAGAGTACAGGCTCTTAGGATGTGAGCAGGAGGATGGCAGGCGGGCACAGAATTCAGAAAGAATGAGGGAGAGGCTCTGGCCCTCTGTGACCCGAATCACCGAGCCCCTCTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAA... |
Task1_train_23146 | This genomic variant is located on Chromosome 16, within the TUBB3 (tubulin beta 3 class III) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not provided | AAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGA... | AAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGA... |
Task1_train_23147 | A mutation found in TUBB3 (tubulin beta 3 class III) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | CTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCA... | CTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCA... |
Task1_train_23148 | Gene TUBB3 (tubulin beta 3 class III) on Chromosome 16 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Inborn genetic diseases | CTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCA... | CTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCA... |
Task1_train_23149 | Here’s a variant in TUBB3 (tubulin beta 3 class III) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Complex cortical dysplasia with other brain malformations 1 | CTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCA... | CTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCA... |
Task1_train_23150 | A variant affecting Chromosome 16, within the gene TUBB3 (tubulin beta 3 class III), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | TTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGC... | TTTGGTAAGTTCCCCCTGCTCCAAGCTCTGATGGCAGACCCCATCACAGGCAAGCCCAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGC... |
Task1_train_23151 | This variant lies on Chromosome 16 and affects the gene TUBB3 (tubulin beta 3 class III). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; TUBB3-related disorder | CAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGAT... | CAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGAT... |
Task1_train_23152 | This mutation is located in gene TUBB3 (tubulin beta 3 class III) on Chromosome 16. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; TUBB3-Releated Disorders | CAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGAT... | CAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGAT... |
Task1_train_23153 | A mutation in TUBB3 (tubulin beta 3 class III), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Complex cortical dysplasia with other brain malformations 1 | CAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGAT... | CAGGTCGGTGGACGGGGACGGCTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGAT... |
Task1_train_23154 | Given this context: Chromosome 16, gene TUBB3 (tubulin beta 3 class III) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; TUBB3-related tubulinopathy | CTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGT... | CTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGT... |
Task1_train_23155 | The gene TUBB3 (tubulin beta 3 class III) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Complex cortical dysplasia with other brain malformations 1 | CTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGT... | CTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGT... |
Task1_train_23156 | Here is a genetic alteration in TUBB3 (tubulin beta 3 class III) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | CTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGT... | CTGTGAGAAACAAGGAATGGTCAGCTCCTCACATGATCCTGAATGGTGGGAACTCATCTCTCCATTTTACAGCTGGGCATTGGAGGCCCAGAGAAAGGGTTCTGTGGGGAGAACAGAAACCACTCATGCATTTCAAGTGGAATGAAGTGTAAAGCAGACAGAAGCTTACAGAATTGCTAGAGAGCTGGTGAGACAGAACGGGGCCTCCAGAGGACTCCGGGGTCCAGGAGCACGAGGCCTTGCTGCGGTCAAGAGATCAGGACGTTCCCATGCCTGTGTCCTGGGGTTGGGCCGTGGATGCCACGTTCCCATGTCTGTGT... |
Task1_train_23157 | This gene mutation involves VPS53 (VPS53 subunit of GARP complex) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Pontocerebellar hypoplasia type 2E | GGTCAGTTCCACGTGCCCTTGCAATTGCTCGAGGACTCTGGGGCCCAAAGATAAAGAACTCACTTTATATAGTACTCAGAGAACAAAGAGCAGAAAAATGTCTCCCATCCCATTTTCAGCATAAGTATTAAAGCAAAACCTAATTTAGGATCTGGCACCCTTGTGGCAAGGCAGACACAGCTGAGGTTGGGCTAAATCTTAGCTTCCAATGCCATAGCTTTTGTTCAAGTTTGGATGGCAGCTGCTCCACTACTGGAGGCAGCGTCTGTTTCAGTCTATGAACACTGCTGAGTTAACTTGATTCTGATGGTTCTGCTGCC... | GGTCAGTTCCACGTGCCCTTGCAATTGCTCGAGGACTCTGGGGCCCAAAGATAAAGAACTCACTTTATATAGTACTCAGAGAACAAAGAGCAGAAAAATGTCTCCCATCCCATTTTCAGCATAAGTATTAAAGCAAAACCTAATTTAGGATCTGGCACCCTTGTGGCAAGGCAGACACAGCTGAGGTTGGGCTAAATCTTAGCTTCCAATGCCATAGCTTTTGTTCAAGTTTGGATGGCAGCTGCTCCACTACTGGAGGCAGCGTCTGTTTCAGTCTATGAACACTGCTGAGTTAACTTGATTCTGATGGTTCTGCTGCC... |
Task1_train_23158 | Here is a variant affecting GEMIN4 (gem nuclear organelle associated protein 4) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | CTGGCACTTCACACTTGAAGTGCCCCTCGAAGAAGCTCTTCAGCCTCAGGCCCACAGTCCAGTCTAGCTGTTCTAACTTGCGGTGGAGCCAGGACAGGGACTTGATCCAGACATCCGGGGAGAAGGTCTCAGCATTGGCTGATACAATCTCACACAGGAGCTCCAGGATATGGATCGCTAGATCCTTCCTATCCAAAGAGAGGCACCGCTTCTCCTTGGGAAGCTGCCAGTATTTGCTGAAGCGGTCCAAGAGCTGGCACAAGCTGAAGAGGAGTGGAAACGGGGAGCAGGTCTGGAGCCAGTATTCCTCTCGGCACGCG... | CTGGCACTTCACACTTGAAGTGCCCCTCGAAGAAGCTCTTCAGCCTCAGGCCCACAGTCCAGTCTAGCTGTTCTAACTTGCGGTGGAGCCAGGACAGGGACTTGATCCAGACATCCGGGGAGAAGGTCTCAGCATTGGCTGATACAATCTCACACAGGAGCTCCAGGATATGGATCGCTAGATCCTTCCTATCCAAAGAGAGGCACCGCTTCTCCTTGGGAAGCTGCCAGTATTTGCTGAAGCGGTCCAAGAGCTGGCACAAGCTGAAGAGGAGTGGAAACGGGGAGCAGGTCTGGAGCCAGTATTCCTCTCGGCACGCG... |
Task1_train_23159 | This variant affects gene BHLHA9 (basic helix-loop-helix family member a9) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Mesoaxial synostotic syndactyly with phalangeal reduction | TCGCTCTGTCCGCCAGGCTGGAGCGCAGTGGCGGGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCCCCGCCACCACGTCCAGCTAATTGTTGTATTTTAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTCTAGCTGTTTTATAATTCGACATATATTGCAGATTTGGGGGACATAGAA... | TCGCTCTGTCCGCCAGGCTGGAGCGCAGTGGCGGGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCCCCGCCACCACGTCCAGCTAATTGTTGTATTTTAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTCTAGCTGTTTTATAATTCGACATATATTGCAGATTTGGGGGACATAGAA... |
Task1_train_23160 | With a mutation on Chromosome 17 in gene BHLHA9 (basic helix-loop-helix family member a9), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Mesoaxial synostotic syndactyly with phalangeal reduction | CAGGCTGGAGCGCAGTGGCGGGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCCCCGCCACCACGTCCAGCTAATTGTTGTATTTTAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTCTAGCTGTTTTATAATTCGACATATATTGCAGATTTGGGGGACATAGAACCTGGGAAATACA... | CAGGCTGGAGCGCAGTGGCGGGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCCCCGCCACCACGTCCAGCTAATTGTTGTATTTTAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTCTAGCTGTTTTATAATTCGACATATATTGCAGATTTGGGGGACATAGAACCTGGGAAATACA... |
Task1_train_23161 | Located on Chromosome 17, this mutation impacts INPP5K (inositol polyphosphate-5-phosphatase K). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Congenital muscular dystrophy with cataracts and intellectual disability | CACTGCAGCGGCCCCTCATGTACCGGCTGGCTCCCAGGCCTGGGCCTCAGGGAGCCAGTGATGAGCTCAAGCCCTCACCCTTCCCCTTCCCTCACCAGCACTGCTTACCTGGAAGGGTCTGCTTATCCCCACCACAGAACGCAGACTGTTGCTGTAGTAACAGAGGAGAAACTCATCTTCAGTGGTAGGGATATTGCTGATGTCGATGTAAACCTGGAGGGGGATGGACAGGACTGGGGTCAGCTCCAGGGCTCTGGGCTCCACCCAGCTCTGAGTGACAAGTTATTCAGCACTCTGTTCCTTCCACAAGACAGGAGTGC... | CACTGCAGCGGCCCCTCATGTACCGGCTGGCTCCCAGGCCTGGGCCTCAGGGAGCCAGTGATGAGCTCAAGCCCTCACCCTTCCCCTTCCCTCACCAGCACTGCTTACCTGGAAGGGTCTGCTTATCCCCACCACAGAACGCAGACTGTTGCTGTAGTAACAGAGGAGAAACTCATCTTCAGTGGTAGGGATATTGCTGATGTCGATGTAAACCTGGAGGGGGATGGACAGGACTGGGGTCAGCTCCAGGGCTCTGGGCTCCACCCAGCTCTGAGTGACAAGTTATTCAGCACTCTGTTCCTTCCACAAGACAGGAGTGC... |
Task1_train_23162 | Assess the clinical impact of this variant on gene INPP5K (inositol polyphosphate-5-phosphatase K), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Congenital muscular dystrophy with cataracts and intellectual disability | CCAGCACTGCTTACCTGGAAGGGTCTGCTTATCCCCACCACAGAACGCAGACTGTTGCTGTAGTAACAGAGGAGAAACTCATCTTCAGTGGTAGGGATATTGCTGATGTCGATGTAAACCTGGAGGGGGATGGACAGGACTGGGGTCAGCTCCAGGGCTCTGGGCTCCACCCAGCTCTGAGTGACAAGTTATTCAGCACTCTGTTCCTTCCACAAGACAGGAGTGCTGAGGCAGGCCTGCCTGCTGGTGATGTACCTGGTGCTGGTGACGTACCTGGTTCAGGTTGTCGCTGCAGGAGACCTTGCTGTCCCCGACCCAGG... | CCAGCACTGCTTACCTGGAAGGGTCTGCTTATCCCCACCACAGAACGCAGACTGTTGCTGTAGTAACAGAGGAGAAACTCATCTTCAGTGGTAGGGATATTGCTGATGTCGATGTAAACCTGGAGGGGGATGGACAGGACTGGGGTCAGCTCCAGGGCTCTGGGCTCCACCCAGCTCTGAGTGACAAGTTATTCAGCACTCTGTTCCTTCCACAAGACAGGAGTGCTGAGGCAGGCCTGCCTGCTGGTGATGTACCTGGTGCTGGTGACGTACCTGGTTCAGGTTGTCGCTGCAGGAGACCTTGCTGTCCCCGACCCAGG... |
Task1_train_23163 | This variant impacts the gene INPP5K (inositol polyphosphate-5-phosphatase K) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Congenital muscular dystrophy with cataracts and intellectual disability | GGTTTCTCCAAGTTGGTCAGGCTGGTCTCAAACCCCCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAGAGTGCTGGAATTACAGGCATAAGCCACCGTGCCCGGCCCCTATTCTTCTTTTTTAAATAATTCATTTCATGCTTTGTATCTGACTCTCTATTCTAAAGCACATCCAGGGTCTGTTACCCTGGCTTTTCCATGTGAAGATCAGGCGTGGCTGCCTCACCCCTGGATGCGAAGCCCTGCTAGACAGCCTCCCCCACCAGACCTGGGCAAAAGAAAACAGCAGCGAGGGCATCTAGCAACACTCTGCACAGC... | GGTTTCTCCAAGTTGGTCAGGCTGGTCTCAAACCCCCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAGAGTGCTGGAATTACAGGCATAAGCCACCGTGCCCGGCCCCTATTCTTCTTTTTTAAATAATTCATTTCATGCTTTGTATCTGACTCTCTATTCTAAAGCACATCCAGGGTCTGTTACCCTGGCTTTTCCATGTGAAGATCAGGCGTGGCTGCCTCACCCCTGGATGCGAAGCCCTGCTAGACAGCCTCCCCCACCAGACCTGGGCAAAAGAAAACAGCAGCGAGGGCATCTAGCAACACTCTGCACAGC... |
Task1_train_23164 | A mutation found in INPP5K (inositol polyphosphate-5-phosphatase K) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Congenital muscular dystrophy with cataracts and intellectual disability | TATGAAACTTGATCCTGCAGGCCACGAGCCCTGGCATAGCGGAGTCGAAGCAGGGGGAACCTCAAACCCAGCACTGGGTAAGGGAGGCATCAGAACTTCAGGTGGGCCAGAGGTTGCTACAGGTGTGTCCTCAAGCCTACTTCCTCCCCAGTCTTCTCTCTCCTACACCCAAGCACACGTGCCAACAGGGATGGAGGACGGGCTGGACCATGAGGGGCTGACTCCCAGGGTCAGGATTGAAGCAAGGGGACTGATAAAGACTCAGGAAAAGTTTCAGGCTTAATCCCCACCCACAAAGCAGCTTTAGGCCACTGGGTTCC... | TATGAAACTTGATCCTGCAGGCCACGAGCCCTGGCATAGCGGAGTCGAAGCAGGGGGAACCTCAAACCCAGCACTGGGTAAGGGAGGCATCAGAACTTCAGGTGGGCCAGAGGTTGCTACAGGTGTGTCCTCAAGCCTACTTCCTCCCCAGTCTTCTCTCTCCTACACCCAAGCACACGTGCCAACAGGGATGGAGGACGGGCTGGACCATGAGGGGCTGACTCCCAGGGTCAGGATTGAAGCAAGGGGACTGATAAAGACTCAGGAAAAGTTTCAGGCTTAATCCCCACCCACAAAGCAGCTTTAGGCCACTGGGTTCC... |
Task1_train_23165 | A genetic alteration is present in INPP5K (inositol polyphosphate-5-phosphatase K) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | AAGACACTGGCTCGCTTTGTGAAGGAGCAGCAGGGAAGTGGGGGCGGGGAGGGTGGGGTCGGGGCAGGACAGAGTTAGACTGGGAGAAAGGGTGGGGCTGTGGGAAAAGCAGGAGAGTTCTAGGGAAAGTTCTAGTTGGAGGAAATGAAGTAGGAGGAGCGAAGAAAGGACTAGCAGGAGGTGGCTGGGGGCCCTGGAGCAGTGGAAGGGGGTCAGCCCTTCTCAGTCTATAGCTGGCAAATGCACGGAGCTCACCCATCCACCCTGATTCTTGGCTGGGGAAAGAAGGGCATTCATTTTGGGTGCCAGGCCCTCAGTCT... | AAGACACTGGCTCGCTTTGTGAAGGAGCAGCAGGGAAGTGGGGGCGGGGAGGGTGGGGTCGGGGCAGGACAGAGTTAGACTGGGAGAAAGGGTGGGGCTGTGGGAAAAGCAGGAGAGTTCTAGGGAAAGTTCTAGTTGGAGGAAATGAAGTAGGAGGAGCGAAGAAAGGACTAGCAGGAGGTGGCTGGGGGCCCTGGAGCAGTGGAAGGGGGTCAGCCCTTCTCAGTCTATAGCTGGCAAATGCACGGAGCTCACCCATCCACCCTGATTCTTGGCTGGGGAAAGAAGGGCATTCATTTTGGGTGCCAGGCCCTCAGTCT... |
Task1_train_23166 | Given this variant in gene INPP5K (inositol polyphosphate-5-phosphatase K) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Congenital muscular dystrophy with cataracts and intellectual disability | GGAGAAAGGGTGGGGCTGTGGGAAAAGCAGGAGAGTTCTAGGGAAAGTTCTAGTTGGAGGAAATGAAGTAGGAGGAGCGAAGAAAGGACTAGCAGGAGGTGGCTGGGGGCCCTGGAGCAGTGGAAGGGGGTCAGCCCTTCTCAGTCTATAGCTGGCAAATGCACGGAGCTCACCCATCCACCCTGATTCTTGGCTGGGGAAAGAAGGGCATTCATTTTGGGTGCCAGGCCCTCAGTCTGGCCTCCCAATCTCAGTAGGCCACATGGGTAGAAAGGGCTGTGTCTCTGCCACAAGTTGAGCTAATTTCCTTGGCTCAATTC... | GGAGAAAGGGTGGGGCTGTGGGAAAAGCAGGAGAGTTCTAGGGAAAGTTCTAGTTGGAGGAAATGAAGTAGGAGGAGCGAAGAAAGGACTAGCAGGAGGTGGCTGGGGGCCCTGGAGCAGTGGAAGGGGGTCAGCCCTTCTCAGTCTATAGCTGGCAAATGCACGGAGCTCACCCATCCACCCTGATTCTTGGCTGGGGAAAGAAGGGCATTCATTTTGGGTGCCAGGCCCTCAGTCTGGCCTCCCAATCTCAGTAGGCCACATGGGTAGAAAGGGCTGTGTCTCTGCCACAAGTTGAGCTAATTTCCTTGGCTCAATTC... |
Task1_train_23167 | The gene PRPF8 (pre-mRNA processing factor 8) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Retinal dystrophy | GTCCTGGGCTGGGTCCTTGCCCTCATACGGCACTCACCGGGTCCTCAGGGTTCCCTGGGGCGCCTGCGCCGGCGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACC... | GTCCTGGGCTGGGTCCTTGCCCTCATACGGCACTCACCGGGTCCTCAGGGTTCCCTGGGGCGCCTGCGCCGGCGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACC... |
Task1_train_23168 | This alteration in PRPF8 (pre-mRNA processing factor 8) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Retinal dystrophy | GGCGCCTGCGCCGGCGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCC... | GGCGCCTGCGCCGGCGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCC... |
Task1_train_23169 | This variant affects the gene PRPF8 (pre-mRNA processing factor 8) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not provided | GGCGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCC... | GGCGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCC... |
Task1_train_23170 | The variant affects gene PRPF8 (pre-mRNA processing factor 8), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | GGCGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCC... | GGCGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCC... |
Task1_train_23171 | This variant impacts the gene PRPF8 (pre-mRNA processing factor 8) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Retinal dystrophy | GCGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCT... | GCGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCT... |
Task1_train_23172 | The following genetic variant occurs in PRPF8 (pre-mRNA processing factor 8) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Retinal dystrophy | CGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTG... | CGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTG... |
Task1_train_23173 | Gene PRPF8 (pre-mRNA processing factor 8) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Retinitis pigmentosa 13 | CGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTG... | CGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTG... |
Task1_train_23174 | This is a variant in PRPF8 (pre-mRNA processing factor 8), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Retinitis pigmentosa | CGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTG... | CGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTG... |
Task1_train_23175 | Chromosome 17 houses a mutation in gene PRPF8 (pre-mRNA processing factor 8). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Retinal dystrophy | GTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCC... | GTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCC... |
Task1_train_23176 | This genomic variant is located on Chromosome 17, within the PRPF8 (pre-mRNA processing factor 8) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not provided | CTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCG... | CTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCG... |
Task1_train_23177 | Gene PRPF8 (pre-mRNA processing factor 8) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Retinal dystrophy | GCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAG... | GCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCCTGCCTCGCTCCGCCCCCGCCCCCGGAGCCCCGCCCAGCGCCTGCCACGCTCCGCCCCCGCCCCGCCCCAG... |
Task1_train_23178 | Given this variant in gene PRPF8 (pre-mRNA processing factor 8) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Retinitis pigmentosa 13 | GACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTAC... | GACTCATTGGGCTGAGTGTGGATCCAACCTAAGGGTTCCATCTCCTATAGGTAAAGAGGAGTACAGAGCTGAATCCCATCCACAGACAGGAATCGCACCAGCTTTTCCACACTCCCAGGCTCCATCACTCCCCATTACCTTGAGGTACTCATGCTGGGGCAGCTGGCCAGGCAGGTGCACGGTCTGGTGAGTGCCCCACTGCGGCACCATCACAATGCAGCGGATCTCCTTCACCTGGGGGTTATCTGGTGGGCTCACCCCATATAGGTATCCTGCAATCTGGAGACAAAGGGGTCAGGAACCAAAACTCTTCTTAGTAC... |
Task1_train_23179 | Mutation context: Chromosome 17, Gene SERPINF2 (serpin family F member 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Alpha-2-plasmin inhibitor deficiency | AGATGAGGTTTTGCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCCCCATGCCCGGCCACACTGCTAGAAACTTTAAAAGCATCTCATTCGGTTACGTGTCCGCCTGCAGTGGGACAGGTAGTATGACTCCACCCCACTGTGAGGAAGTGGAGGAGCAGTGGGGTCAGTCACACGCCTGGCAGGATGGCCAGGAGCCCCATTGTCTGCCTTAGGAGCACCTGCTGGCCCCACCCCCACTTAGCTTCGGGGCTTTCTGTCCTCA... | AGATGAGGTTTTGCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCCCCATGCCCGGCCACACTGCTAGAAACTTTAAAAGCATCTCATTCGGTTACGTGTCCGCCTGCAGTGGGACAGGTAGTATGACTCCACCCCACTGTGAGGAAGTGGAGGAGCAGTGGGGTCAGTCACACGCCTGGCAGGATGGCCAGGAGCCCCATTGTCTGCCTTAGGAGCACCTGCTGGCCCCACCCCCACTTAGCTTCGGGGCTTTCTGTCCTCA... |
Task1_train_23180 | The gene RPA1 (replication protein A1) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 | TGACTAGTGCCTTGCCATCAGTTTTACCAGTTACAAAAGTTGATTTTCTTTTTCTCACCCATTATCTTGCCCGTTGAGGCAAGAGAAGTGTTTAAGAGGGCGGCCTTCAGAAACAGCAGTGTCTGGATTCGTCACCATTATTACTTTGACCTCGGGGCTGACATCAGCAAACATAGCAGTGAGCTGCTGTGTGCGCAGCCTTCATCCTAGATTGCTTTTGTAGCCTCCAGCCTCAGTCTCTATTTGATCTGCGTATCTCTTGCATATAAAAAGGAAAAGCTTTGCCTCTCATGTTATATGATTTCACTAGTGGCACCTCC... | TGACTAGTGCCTTGCCATCAGTTTTACCAGTTACAAAAGTTGATTTTCTTTTTCTCACCCATTATCTTGCCCGTTGAGGCAAGAGAAGTGTTTAAGAGGGCGGCCTTCAGAAACAGCAGTGTCTGGATTCGTCACCATTATTACTTTGACCTCGGGGCTGACATCAGCAAACATAGCAGTGAGCTGCTGTGTGCGCAGCCTTCATCCTAGATTGCTTTTGTAGCCTCCAGCCTCAGTCTCTATTTGATCTGCGTATCTCTTGCATATAAAAAGGAAAAGCTTTGCCTCTCATGTTATATGATTTCACTAGTGGCACCTCC... |
Task1_train_23181 | The gene RPA1 (replication protein A1), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 | TAAATTTACTTATTTGACAGGAGAATGAGTTAGTATTAAATCACTTTGCATGTTTTACTATTTGCTTATTCTGTAAACTGTCAAACCCATGTGTCATCTTGGGGTTTTAATTAGCTGGATTAAAATACAGGTTGGAAAACGGAATATGCGTAAGACGAGAAAGGCTGTAGGAAGATGATTTCTTACTTGATCTTTTCCAAGGAAGACCCCATACACTAATATGATCGATTTGGTTTGTAGGTGGACCATTTGTGCTCGTGTTACCAACAAAAGTCAGATCCGTACCTGGAGCAACTCCCGAGGGGAAGGGAAGCTTTTCT... | TAAATTTACTTATTTGACAGGAGAATGAGTTAGTATTAAATCACTTTGCATGTTTTACTATTTGCTTATTCTGTAAACTGTCAAACCCATGTGTCATCTTGGGGTTTTAATTAGCTGGATTAAAATACAGGTTGGAAAACGGAATATGCGTAAGACGAGAAAGGCTGTAGGAAGATGATTTCTTACTTGATCTTTTCCAAGGAAGACCCCATACACTAATATGATCGATTTGGTTTGTAGGTGGACCATTTGTGCTCGTGTTACCAACAAAAGTCAGATCCGTACCTGGAGCAACTCCCGAGGGGAAGGGAAGCTTTTCT... |
Task1_train_23182 | A mutation on Chromosome 17 affecting DPH1 (diphthamide biosynthesis 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 | CCTGCTGCCACCCTCCCTCCCCTGCTCCCCCAAACCTCTCTTCTCCCCCCTTCCCCTCCCCTGCTCCCCCTCTCTCCCCTCCCCTTCCCCCTCCCCTGCTCCCCCTCCCCTCCCCTGCTCCCCATCCCCCTCCCCAGTTTCCCCATCCCCTCCCCTGCTGCCCCATTCCCCTCCCCTACTCCCCCTTCCCCCTCCCCTGCTCCCCCCTCCCCTGCTGCCCCCTCCCCTCCTCCCCCACTCCCCTGCTGCCCCATCCCCCTCCCCTGCTGCTGCCCCATCCCCCTCCCCTGCTGCTGCCCTCCCTCCCCTGCTGCCCCATC... | CCTGCTGCCACCCTCCCTCCCCTGCTCCCCCAAACCTCTCTTCTCCCCCCTTCCCCTCCCCTGCTCCCCCTCTCTCCCCTCCCCTTCCCCCTCCCCTGCTCCCCCTCCCCTCCCCTGCTCCCCATCCCCCTCCCCAGTTTCCCCATCCCCTCCCCTGCTGCCCCATTCCCCTCCCCTACTCCCCCTTCCCCCTCCCCTGCTCCCCCCTCCCCTGCTGCCCCCTCCCCTCCTCCCCCACTCCCCTGCTGCCCCATCCCCCTCCCCTGCTGCTGCCCCATCCCCCTCCCCTGCTGCTGCCCTCCCTCCCCTGCTGCCCCATC... |
Task1_train_23183 | A variant on Chromosome 17 in gene PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Lissencephaly due to LIS1 mutation | TCTCAGAATTTAGATGGAGTGATAGTGATGGCTTTCAGCTATCATTTGTAGTTAGCTGGGCTCCAGGTCAGAAGAATCCTTAAGGATTATAAAATAAATTCCTGCTTATATTTACTAGAATTGTTCTTCAGATAAGGATCTCTAATGAAATAGCAGTTGCCATAGCGAGCACCTGAGCTGTCACTTTTTCACTCAGGGCTCATGTTCGTTTTTCGTTTGTTTGTTTTTGAGACGGACTCTTCCTCTGTTGCCCAGACTGGAGTACAGTAGCATGTTGGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTTCTCGC... | TCTCAGAATTTAGATGGAGTGATAGTGATGGCTTTCAGCTATCATTTGTAGTTAGCTGGGCTCCAGGTCAGAAGAATCCTTAAGGATTATAAAATAAATTCCTGCTTATATTTACTAGAATTGTTCTTCAGATAAGGATCTCTAATGAAATAGCAGTTGCCATAGCGAGCACCTGAGCTGTCACTTTTTCACTCAGGGCTCATGTTCGTTTTTCGTTTGTTTGTTTTTGAGACGGACTCTTCCTCTGTTGCCCAGACTGGAGTACAGTAGCATGTTGGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTTCTCGC... |
Task1_train_23184 | This variant lies on Chromosome 17 and affects the gene PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Lissencephaly due to LIS1 mutation | TAGGCTGTTAGAACCAAGAGTTTTGTGGGTTTTTGTTTTGTTTTGTTTGTTGTTTTTTTGAGAGAGGGTCTTGCTCTGATAGGCAGGCTGGAATGCAGGGGCTCACTCACAGCTTGCTGCAACCTCAACCTGCCAGGCTCAAGCCATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCCACCTGCTGAGGTTCTTCAGTCTTTACTTAACTTATTACTTTTAGTAACGGTAGTACACCTTGCTGAAGTTAAAGGTTCTACATTAACTGGATCAGATTGTTGGCTTAAATATTGAGAGGCA... | TAGGCTGTTAGAACCAAGAGTTTTGTGGGTTTTTGTTTTGTTTTGTTTGTTGTTTTTTTGAGAGAGGGTCTTGCTCTGATAGGCAGGCTGGAATGCAGGGGCTCACTCACAGCTTGCTGCAACCTCAACCTGCCAGGCTCAAGCCATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCCACCTGCTGAGGTTCTTCAGTCTTTACTTAACTTATTACTTTTAGTAACGGTAGTACACCTTGCTGAAGTTAAAGGTTCTACATTAACTGGATCAGATTGTTGGCTTAAATATTGAGAGGCA... |
Task1_train_23185 | Located on Chromosome 17, this mutation impacts PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Lissencephaly due to LIS1 mutation | TTTGTTTTGTTTGTTGTTTTTTTGAGAGAGGGTCTTGCTCTGATAGGCAGGCTGGAATGCAGGGGCTCACTCACAGCTTGCTGCAACCTCAACCTGCCAGGCTCAAGCCATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCCACCTGCTGAGGTTCTTCAGTCTTTACTTAACTTATTACTTTTAGTAACGGTAGTACACCTTGCTGAAGTTAAAGGTTCTACATTAACTGGATCAGATTGTTGGCTTAAATATTGAGAGGCAGGGCATCAAAGGTGGTAGTGCTAAAATTCTCTGGAT... | TTTGTTTTGTTTGTTGTTTTTTTGAGAGAGGGTCTTGCTCTGATAGGCAGGCTGGAATGCAGGGGCTCACTCACAGCTTGCTGCAACCTCAACCTGCCAGGCTCAAGCCATTCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCCACCTGCTGAGGTTCTTCAGTCTTTACTTAACTTATTACTTTTAGTAACGGTAGTACACCTTGCTGAAGTTAAAGGTTCTACATTAACTGGATCAGATTGTTGGCTTAAATATTGAGAGGCAGGGCATCAAAGGTGGTAGTGCTAAAATTCTCTGGAT... |
Task1_train_23186 | This is a variant in PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Lissencephaly due to LIS1 mutation | AGTGCTGGGATTACAGACGTGAGCCACTGCGCTGGCCTAACCCTGTAATTATTATACGTTGATTTTTGGCATGCTCATAATTACCTGGAACATAAAGTTTTTGCTGGTAATTCCCTGTTATCTTTCTTTGCTGATTTGTTTTAAACATACCATTGAATTAAAGCCAGTAATCCCACCAGTTATACAATACTACTGGAGTGTGTTTTGTTTTGTATTTTGAGACGTAGTTTCGCTGTTGTTGCCTAGGCTGGAGTGCAGTGGCACGAACTGGGCTCACCACAGCCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAG... | AGTGCTGGGATTACAGACGTGAGCCACTGCGCTGGCCTAACCCTGTAATTATTATACGTTGATTTTTGGCATGCTCATAATTACCTGGAACATAAAGTTTTTGCTGGTAATTCCCTGTTATCTTTCTTTGCTGATTTGTTTTAAACATACCATTGAATTAAAGCCAGTAATCCCACCAGTTATACAATACTACTGGAGTGTGTTTTGTTTTGTATTTTGAGACGTAGTTTCGCTGTTGTTGCCTAGGCTGGAGTGCAGTGGCACGAACTGGGCTCACCACAGCCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAG... |
Task1_train_23187 | A variant was discovered on Chromosome 17, affecting PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Abnormal cortical gyration | TTCTCTTCTGATGTTAAAAAAAAGAAAGAAAAACTTATAACTAAGAATATAATATTATGGATGTAGTATGACAGGGGCTAAAAGTTCTGGAGGCTTTGCGGGGGTGTCCTTTTTAATGAAATACTTGTATGATTTGAAAGGGAATACTCTTGAAAAGAGTATCTTCAGGGTTAATGAGATTTTAAATAAATTCTATTTCTTCAGAATAGAAATGAGGTCTTTTTTTTAGGAGTCATTTGAATTTTTCTTTCAGAAATCGAGCTATAGCAGATTATCTTCGTTCAAATGGCTATGAAGAGGCATATTCAGTTTTTAAAAAG... | TTCTCTTCTGATGTTAAAAAAAAGAAAGAAAAACTTATAACTAAGAATATAATATTATGGATGTAGTATGACAGGGGCTAAAAGTTCTGGAGGCTTTGCGGGGGTGTCCTTTTTAATGAAATACTTGTATGATTTGAAAGGGAATACTCTTGAAAAGAGTATCTTCAGGGTTAATGAGATTTTAAATAAATTCTATTTCTTCAGAATAGAAATGAGGTCTTTTTTTTAGGAGTCATTTGAATTTTTCTTTCAGAAATCGAGCTATAGCAGATTATCTTCGTTCAAATGGCTATGAAGAGGCATATTCAGTTTTTAAAAAG... |
Task1_train_23188 | A variant affecting Chromosome 17, within the gene PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Lissencephaly due to LIS1 mutation | TCTTCTGATGTTAAAAAAAAGAAAGAAAAACTTATAACTAAGAATATAATATTATGGATGTAGTATGACAGGGGCTAAAAGTTCTGGAGGCTTTGCGGGGGTGTCCTTTTTAATGAAATACTTGTATGATTTGAAAGGGAATACTCTTGAAAAGAGTATCTTCAGGGTTAATGAGATTTTAAATAAATTCTATTTCTTCAGAATAGAAATGAGGTCTTTTTTTTAGGAGTCATTTGAATTTTTCTTTCAGAAATCGAGCTATAGCAGATTATCTTCGTTCAAATGGCTATGAAGAGGCATATTCAGTTTTTAAAAAGGAA... | TCTTCTGATGTTAAAAAAAAGAAAGAAAAACTTATAACTAAGAATATAATATTATGGATGTAGTATGACAGGGGCTAAAAGTTCTGGAGGCTTTGCGGGGGTGTCCTTTTTAATGAAATACTTGTATGATTTGAAAGGGAATACTCTTGAAAAGAGTATCTTCAGGGTTAATGAGATTTTAAATAAATTCTATTTCTTCAGAATAGAAATGAGGTCTTTTTTTTAGGAGTCATTTGAATTTTTCTTTCAGAAATCGAGCTATAGCAGATTATCTTCGTTCAAATGGCTATGAAGAGGCATATTCAGTTTTTAAAAAGGAA... |
Task1_train_23189 | A variant has been detected on Chromosome 17 in PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Lissencephaly due to LIS1 mutation | AAAAAGAAAGAAAAACTTATAACTAAGAATATAATATTATGGATGTAGTATGACAGGGGCTAAAAGTTCTGGAGGCTTTGCGGGGGTGTCCTTTTTAATGAAATACTTGTATGATTTGAAAGGGAATACTCTTGAAAAGAGTATCTTCAGGGTTAATGAGATTTTAAATAAATTCTATTTCTTCAGAATAGAAATGAGGTCTTTTTTTTAGGAGTCATTTGAATTTTTCTTTCAGAAATCGAGCTATAGCAGATTATCTTCGTTCAAATGGCTATGAAGAGGCATATTCAGTTTTTAAAAAGGAAGCTGAATTAGATGTG... | AAAAAGAAAGAAAAACTTATAACTAAGAATATAATATTATGGATGTAGTATGACAGGGGCTAAAAGTTCTGGAGGCTTTGCGGGGGTGTCCTTTTTAATGAAATACTTGTATGATTTGAAAGGGAATACTCTTGAAAAGAGTATCTTCAGGGTTAATGAGATTTTAAATAAATTCTATTTCTTCAGAATAGAAATGAGGTCTTTTTTTTAGGAGTCATTTGAATTTTTCTTTCAGAAATCGAGCTATAGCAGATTATCTTCGTTCAAATGGCTATGAAGAGGCATATTCAGTTTTTAAAAAGGAAGCTGAATTAGATGTG... |
Task1_train_23190 | A variant affecting Chromosome 17, within the gene PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Lissencephaly due to LIS1 mutation | CACGGAGAAACCCCATCTCTACTAAAATACAAAAAAATTAGCTGGGCATGGCAGCGTGCGCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGAAATTCGCTTGAACCCAGGAGACAGGTTGCAGTTAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAGGTAGTTACAACTAACCAAATAGTAACGACGGTTTGGCCTTACTACTAACAGCAGAAGAAATAAACACTGAAATTATGGGCCGGGTGTGGTAGCTCATGCCTATAGTCCTAGGACTTTGGGAGGCCAAGGTGG... | CACGGAGAAACCCCATCTCTACTAAAATACAAAAAAATTAGCTGGGCATGGCAGCGTGCGCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGAAATTCGCTTGAACCCAGGAGACAGGTTGCAGTTAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAGGTAGTTACAACTAACCAAATAGTAACGACGGTTTGGCCTTACTACTAACAGCAGAAGAAATAAACACTGAAATTATGGGCCGGGTGTGGTAGCTCATGCCTATAGTCCTAGGACTTTGGGAGGCCAAGGTGG... |
Task1_train_23191 | This variant lies on Chromosome 17 and affects the gene PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | CTAAAATACAAAAAAATTAGCTGGGCATGGCAGCGTGCGCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGAAATTCGCTTGAACCCAGGAGACAGGTTGCAGTTAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAGGTAGTTACAACTAACCAAATAGTAACGACGGTTTGGCCTTACTACTAACAGCAGAAGAAATAAACACTGAAATTATGGGCCGGGTGTGGTAGCTCATGCCTATAGTCCTAGGACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCTCAGGA... | CTAAAATACAAAAAAATTAGCTGGGCATGGCAGCGTGCGCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGAAATTCGCTTGAACCCAGGAGACAGGTTGCAGTTAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAGGTAGTTACAACTAACCAAATAGTAACGACGGTTTGGCCTTACTACTAACAGCAGAAGAAATAAACACTGAAATTATGGGCCGGGTGTGGTAGCTCATGCCTATAGTCCTAGGACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCTCAGGA... |
Task1_train_23192 | The following genetic variant occurs in PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Lissencephaly due to LIS1 mutation | GCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGAAATTCGCTTGAACCCAGGAGACAGGTTGCAGTTAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAGGTAGTTACAACTAACCAAATAGTAACGACGGTTTGGCCTTACTACTAACAGCAGAAGAAATAAACACTGAAATTATGGGCCGGGTGTGGTAGCTCATGCCTATAGTCCTAGGACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCTCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCTCGTC... | GCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGAAATTCGCTTGAACCCAGGAGACAGGTTGCAGTTAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAGGTAGTTACAACTAACCAAATAGTAACGACGGTTTGGCCTTACTACTAACAGCAGAAGAAATAAACACTGAAATTATGGGCCGGGTGTGGTAGCTCATGCCTATAGTCCTAGGACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCTCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCTCGTC... |
Task1_train_23193 | A mutation in PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Subcortical band heterotopia | GAAGGCTGAGGCAGGAAATTCGCTTGAACCCAGGAGACAGGTTGCAGTTAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAGGTAGTTACAACTAACCAAATAGTAACGACGGTTTGGCCTTACTACTAACAGCAGAAGAAATAAACACTGAAATTATGGGCCGGGTGTGGTAGCTCATGCCTATAGTCCTAGGACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCTCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCTCGTCTCTACTTAAAATTAGCCAGGT... | GAAGGCTGAGGCAGGAAATTCGCTTGAACCCAGGAGACAGGTTGCAGTTAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAGGTAGTTACAACTAACCAAATAGTAACGACGGTTTGGCCTTACTACTAACAGCAGAAGAAATAAACACTGAAATTATGGGCCGGGTGTGGTAGCTCATGCCTATAGTCCTAGGACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCTCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCTCGTCTCTACTTAAAATTAGCCAGGT... |
Task1_train_23194 | The gene PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Lissencephaly due to LIS1 mutation | GTGAAATGAGCTGAGCGCACAGACCCCATGCCCTCGTTCATTATTTCCCGGGTCTTGTTGTGGGAACTGTTTTCTGAGGCAGTATGTTTTGTGGAAAGAGAGTAATTTGCTTTGGAGTCAGACACCTGGGTTCAAATTCCTACTTGTCTACTTACGGTATTAGAAAATTTAAACCTCTTTCATCTGCAAAACAGAGGTAATAATACCAGAGTCATAGAGTTGTCATGAGGATAAGATGAAGTCATAAGATAAATCATCTTGGTGTAGTACCTGCCACATAGGAGATGCTCATTACTTAGGGATTTTTGTTGTTTCTTTAT... | GTGAAATGAGCTGAGCGCACAGACCCCATGCCCTCGTTCATTATTTCCCGGGTCTTGTTGTGGGAACTGTTTTCTGAGGCAGTATGTTTTGTGGAAAGAGAGTAATTTGCTTTGGAGTCAGACACCTGGGTTCAAATTCCTACTTGTCTACTTACGGTATTAGAAAATTTAAACCTCTTTCATCTGCAAAACAGAGGTAATAATACCAGAGTCATAGAGTTGTCATGAGGATAAGATGAAGTCATAAGATAAATCATCTTGGTGTAGTACCTGCCACATAGGAGATGCTCATTACTTAGGGATTTTTGTTGTTTCTTTAT... |
Task1_train_23195 | A mutation in PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Lissencephaly due to LIS1 mutation | GCTACCCGACAGGCTGAGGCGGGAAGAGCTCTTGAGCCCAGGAGTTCAAGGCTACAGTGAGCTATGATTGCACCACTGCACTTTAGCCTGGGTAACAGAGCAAGTCCTTGCCTCACAAAAAAAAAAAAAAAAAAAAAAAAAAATGTTTCCCTAGCGTTCATATGTAAACATTCAGACTCACTGAGGTAAGTATATGAATATATTCAAATGTTGATAATCGTGATGCCTTTTGTTTTTAAACCATTTGTACAGGTTGAAATTTAATCCTAAATGGAGTTGACTATTTCCTTGTGGGTTGTTGTTTTACTGATTTTTTTAAC... | GCTACCCGACAGGCTGAGGCGGGAAGAGCTCTTGAGCCCAGGAGTTCAAGGCTACAGTGAGCTATGATTGCACCACTGCACTTTAGCCTGGGTAACAGAGCAAGTCCTTGCCTCACAAAAAAAAAAAAAAAAAAAAAAAAAAATGTTTCCCTAGCGTTCATATGTAAACATTCAGACTCACTGAGGTAAGTATATGAATATATTCAAATGTTGATAATCGTGATGCCTTTTGTTTTTAAACCATTTGTACAGGTTGAAATTTAATCCTAAATGGAGTTGACTATTTCCTTGTGGGTTGTTGTTTTACTGATTTTTTTAAC... |
Task1_train_23196 | This variant lies on Chromosome 17 and affects the gene PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Lissencephaly due to LIS1 mutation | GGCTGAGGCGGGAAGAGCTCTTGAGCCCAGGAGTTCAAGGCTACAGTGAGCTATGATTGCACCACTGCACTTTAGCCTGGGTAACAGAGCAAGTCCTTGCCTCACAAAAAAAAAAAAAAAAAAAAAAAAAAATGTTTCCCTAGCGTTCATATGTAAACATTCAGACTCACTGAGGTAAGTATATGAATATATTCAAATGTTGATAATCGTGATGCCTTTTGTTTTTAAACCATTTGTACAGGTTGAAATTTAATCCTAAATGGAGTTGACTATTTCCTTGTGGGTTGTTGTTTTACTGATTTTTTTAACTTTATCGTGTA... | GGCTGAGGCGGGAAGAGCTCTTGAGCCCAGGAGTTCAAGGCTACAGTGAGCTATGATTGCACCACTGCACTTTAGCCTGGGTAACAGAGCAAGTCCTTGCCTCACAAAAAAAAAAAAAAAAAAAAAAAAAAATGTTTCCCTAGCGTTCATATGTAAACATTCAGACTCACTGAGGTAAGTATATGAATATATTCAAATGTTGATAATCGTGATGCCTTTTGTTTTTAAACCATTTGTACAGGTTGAAATTTAATCCTAAATGGAGTTGACTATTTCCTTGTGGGTTGTTGTTTTACTGATTTTTTTAACTTTATCGTGTA... |
Task1_train_23197 | This alteration occurs within gene PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Lissencephaly due to LIS1 mutation | GTGATGGGTATTCTCCTAAAGAATTAAAATTTATCAGAAAAATCAGTGTTATGAGATCATCTCAATGTAAAACAAAACCTGAGGGAGAGGTTAAAGTTTTCTGTCAGAAAAATAGCCTTCATTAATGAAGATAATGATTTTATTTATAAATTTATGGTAAAATGCAGTTCAGTATTTATTTTTTAAAATTAATTCCAGATGTGATAGTATAAATGTTTTTTTAAATGAAGACTAATCCATATGGCAGCCTCTGATGTTCTTGATCATTTAAAAGTACTAGCTGAGCCTGGAGTTTTAACGCATTTCTTTGTGATCTTTAT... | GTGATGGGTATTCTCCTAAAGAATTAAAATTTATCAGAAAAATCAGTGTTATGAGATCATCTCAATGTAAAACAAAACCTGAGGGAGAGGTTAAAGTTTTCTGTCAGAAAAATAGCCTTCATTAATGAAGATAATGATTTTATTTATAAATTTATGGTAAAATGCAGTTCAGTATTTATTTTTTAAAATTAATTCCAGATGTGATAGTATAAATGTTTTTTTAAATGAAGACTAATCCATATGGCAGCCTCTGATGTTCTTGATCATTTAAAAGTACTAGCTGAGCCTGGAGTTTTAACGCATTTCTTTGTGATCTTTAT... |
Task1_train_23198 | This alteration occurs within gene PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Lissencephaly due to LIS1 mutation | CCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGTGGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGGAACCCCATCGCTGCTAAAAACACAAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAAGGCTGAGGCAGGCAAATCACTTTAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACCATCTCAAAAAAAAAAAAAAAAAAACCCGGGCATGGTGGCGCACGTC... | CCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGTGGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGGAACCCCATCGCTGCTAAAAACACAAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAAGGCTGAGGCAGGCAAATCACTTTAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACCATCTCAAAAAAAAAAAAAAAAAAACCCGGGCATGGTGGCGCACGTC... |
Task1_train_23199 | A variant on Chromosome 17 in gene PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Lissencephaly due to LIS1 mutation | GGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGGAACCCCATCGCTGCTAAAAACACAAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAAGGCTGAGGCAGGCAAATCACTTTAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACCATCTCAAAAAAAAAAAAAAAAAAACCCGGGCATGGTGGCGCACGTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCTTGAGAATCGTTTGCACCTGGGAGA... | GGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGGAACCCCATCGCTGCTAAAAACACAAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAAGGCTGAGGCAGGCAAATCACTTTAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACCATCTCAAAAAAAAAAAAAAAAAAACCCGGGCATGGTGGCGCACGTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCTTGAGAATCGTTTGCACCTGGGAGA... |
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