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_10900 | Gene FAM20C (FAM20C golgi associated secretory pathway kinase) on Chromosome 7 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Lethal osteosclerotic bone dysplasia | AGACGAATTTTAAGCCTCCAGCCAATGAGCGCTCAGATGAAGATTTTCCTCCTGAAATGGAGCTCCTGCCCCGGTGGGGGCTGCCTCGTCCGACTGTGGGCTGCCGACTAATCTGTATCAGCACGAGACAGGATTGCAGCTGGTCTTTCCTTGATCGTTCGTTCTTACAATAATGACCCAGCGTTGGCAGTGGGGTGAGGGGGCGCGGGAAGGAGGGGGCAGGCAGGTGATCGGGGCGTTGGAACCAGACCAGCCGGGACCTGCCGGGTGCGTGGGGTGTGGTGGGGGCCAGGTCGGCCTGGCACCCACCCCGTTTCCTC... | AGACGAATTTTAAGCCTCCAGCCAATGAGCGCTCAGATGAAGATTTTCCTCCTGAAATGGAGCTCCTGCCCCGGTGGGGGCTGCCTCGTCCGACTGTGGGCTGCCGACTAATCTGTATCAGCACGAGACAGGATTGCAGCTGGTCTTTCCTTGATCGTTCGTTCTTACAATAATGACCCAGCGTTGGCAGTGGGGTGAGGGGGCGCGGGAAGGAGGGGGCAGGCAGGTGATCGGGGCGTTGGAACCAGACCAGCCGGGACCTGCCGGGTGCGTGGGGTGTGGTGGGGGCCAGGTCGGCCTGGCACCCACCCCGTTTCCTC... |
Task1_train_10901 | This sequence change occurs on Chromosome 7, altering FAM20C (FAM20C golgi associated secretory pathway kinase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Lethal osteosclerotic bone dysplasia | AGCGCTCAGATGAAGATTTTCCTCCTGAAATGGAGCTCCTGCCCCGGTGGGGGCTGCCTCGTCCGACTGTGGGCTGCCGACTAATCTGTATCAGCACGAGACAGGATTGCAGCTGGTCTTTCCTTGATCGTTCGTTCTTACAATAATGACCCAGCGTTGGCAGTGGGGTGAGGGGGCGCGGGAAGGAGGGGGCAGGCAGGTGATCGGGGCGTTGGAACCAGACCAGCCGGGACCTGCCGGGTGCGTGGGGTGTGGTGGGGGCCAGGTCGGCCTGGCACCCACCCCGTTTCCTCTCCGAACCTCAGCTTGTTCAGCTAAGA... | AGCGCTCAGATGAAGATTTTCCTCCTGAAATGGAGCTCCTGCCCCGGTGGGGGCTGCCTCGTCCGACTGTGGGCTGCCGACTAATCTGTATCAGCACGAGACAGGATTGCAGCTGGTCTTTCCTTGATCGTTCGTTCTTACAATAATGACCCAGCGTTGGCAGTGGGGTGAGGGGGCGCGGGAAGGAGGGGGCAGGCAGGTGATCGGGGCGTTGGAACCAGACCAGCCGGGACCTGCCGGGTGCGTGGGGTGTGGTGGGGGCCAGGTCGGCCTGGCACCCACCCCGTTTCCTCTCCGAACCTCAGCTTGTTCAGCTAAGA... |
Task1_train_10902 | Gene MICALL2 (MICAL like 2) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Joubert syndrome 1 | GGTCCTCCCCAGCCACACATGCCCCCCGCCCCACCACCTAGGAAGCACTCCCTGGAGCACCCCCGCCACTCATCCTCAGTCCCTAGGATGCCCTGGACACCCCCCAGTGCCAGGAGGAGCAGAGCGAACTCGCTCTTCTCCTGTCTGTGACCACCCCGGAGGCTCTGAGCACCCCCTGCTGACCACTGCGGGGGCAGGAGGCAGTTCTGAGCAGGGGACGCCTGCACCCCACGATACGGGGCAGGAAACGGCGTTGTCAGCCAGGCTGCGACAAGCATTCTTACTCGCTAAGTGACTGTACTTGGTCGAATGGTGACCCC... | GGTCCTCCCCAGCCACACATGCCCCCCGCCCCACCACCTAGGAAGCACTCCCTGGAGCACCCCCGCCACTCATCCTCAGTCCCTAGGATGCCCTGGACACCCCCCAGTGCCAGGAGGAGCAGAGCGAACTCGCTCTTCTCCTGTCTGTGACCACCCCGGAGGCTCTGAGCACCCCCTGCTGACCACTGCGGGGGCAGGAGGCAGTTCTGAGCAGGGGACGCCTGCACCCCACGATACGGGGCAGGAAACGGCGTTGTCAGCCAGGCTGCGACAAGCATTCTTACTCGCTAAGTGACTGTACTTGGTCGAATGGTGACCCC... |
Task1_train_10903 | This alteration occurs within gene INTS1 (integrator complex subunit 1) located on Chromosome 7. Is it associated with a disease or is it a benign variant? | Pathogenic; Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies | TCCGGCGGCACAGGAGAGACGTGCTGCGGTGCCGTGTCACCTCAGGCAGGGAAAAACCAAGGACAAGCCTTGCCCAGTAGGACCAGGGGAGGCTTCCTGGGGAGGGACACCTCGGACAAGCACTGGTGGATGGTGGATGTGCCAGGGACGGGGGGGTGGGGAGGGCCATTTGCCGGGGCGGGGCGATGTGCCGGGGGGCAGGTGTGCTGATGCTCTGTCAGGCACCAGTCAGTGCTTCGTCCCCTTGAGGTGGGTCAGGGGCCAGCCAGCAAGGTCCCAGGCTCACACAGCCCCCATCGGGACGCCTCGGACGGCCCAGG... | TCCGGCGGCACAGGAGAGACGTGCTGCGGTGCCGTGTCACCTCAGGCAGGGAAAAACCAAGGACAAGCCTTGCCCAGTAGGACCAGGGGAGGCTTCCTGGGGAGGGACACCTCGGACAAGCACTGGTGGATGGTGGATGTGCCAGGGACGGGGGGGTGGGGAGGGCCATTTGCCGGGGCGGGGCGATGTGCCGGGGGGCAGGTGTGCTGATGCTCTGTCAGGCACCAGTCAGTGCTTCGTCCCCTTGAGGTGGGTCAGGGGCCAGCCAGCAAGGTCCCAGGCTCACACAGCCCCCATCGGGACGCCTCGGACGGCCCAGG... |
Task1_train_10904 | This sequence change occurs on Chromosome 7, altering INTS1 (integrator complex subunit 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies | CTACAACCACCACACGGAGACTCTGCCACCCCACAGAGGCCTCTAGATGGTTCTTGCCCTCAAGGAGCTGGGGGCCAGGAGACAGAGATAACCCCTACACCTCCAAAGCCTGACCGGAAGGCCGCAGTGAAGGTGAACAGAGCGCCCAGGGCACGAGGTGGGGGCAGGGTGAACTGGCAGGAGCCCCAGGCGGGGCTGGAGGGGAGTGTAGACCAAGAACCCACGGGGTCACCCATGGGGCTTGAAGGGGGACAGAGCTGTGAGGCCAGCCGGCTGGGGAAGGACAGTGTGCGGCTGTCTGGACAGAAGCAGGGGCAGAC... | CTACAACCACCACACGGAGACTCTGCCACCCCACAGAGGCCTCTAGATGGTTCTTGCCCTCAAGGAGCTGGGGGCCAGGAGACAGAGATAACCCCTACACCTCCAAAGCCTGACCGGAAGGCCGCAGTGAAGGTGAACAGAGCGCCCAGGGCACGAGGTGGGGGCAGGGTGAACTGGCAGGAGCCCCAGGCGGGGCTGGAGGGGAGTGTAGACCAAGAACCCACGGGGTCACCCATGGGGCTTGAAGGGGGACAGAGCTGTGAGGCCAGCCGGCTGGGGAAGGACAGTGTGCGGCTGTCTGGACAGAAGCAGGGGCAGAC... |
Task1_train_10905 | This variant affects the gene MAD1L1 (mitotic arrest deficient 1 like 1) found on Chromosome 7. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Malignant tumor of prostate | CCGGGACCCTCTCACCCTGCCTTCCTCGGGAAGCACCAAGCACTCCCGGAGCCCCGGGTGGAGTACGAGCTTGTGCTGTCCTCATCCAGGGTACTCCAGCCCAAAACCCAGGAGAGCTGTGACAGAGGTGGCCGCCTTCTGAGAGAGGCTGACCCGCGCACCTCGGAGGGACTCCAGCCCTTGTGAGCTGCAAGGGCTGCCTCACAACAACCAAGAGACCCTTCTGTGATGCAGGACAAGAACTGGGGTTGGCACGGGGCTCCGCTCAGCACCATCACAGCCAGATGCGGCACCGGGCCTGGAACTGCCAGTCCCAGCGC... | CCGGGACCCTCTCACCCTGCCTTCCTCGGGAAGCACCAAGCACTCCCGGAGCCCCGGGTGGAGTACGAGCTTGTGCTGTCCTCATCCAGGGTACTCCAGCCCAAAACCCAGGAGAGCTGTGACAGAGGTGGCCGCCTTCTGAGAGAGGCTGACCCGCGCACCTCGGAGGGACTCCAGCCCTTGTGAGCTGCAAGGGCTGCCTCACAACAACCAAGAGACCCTTCTGTGATGCAGGACAAGAACTGGGGTTGGCACGGGGCTCCGCTCAGCACCATCACAGCCAGATGCGGCACCGGGCCTGGAACTGCCAGTCCCAGCGC... |
Task1_train_10906 | A variant has been detected on Chromosome 7 in MRM2 (mitochondrial rRNA methyltransferase 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Mitochondrial DNA depletion syndrome 17 | GTATCAGCTTGAATCAATCCGTTATTTTGCTTTTTTCTGGGCCCACTAGAAATGCAATTTATGCTACTAGGCTACCTTCCCAGTGCTCTGCAAGCCAGGGCACAGCATCCAATGGGGTGAGGTCAGGCCCCACCATTATTATGGTAACCTTTGTCTATCCTTCAAATTGGAGCCTTCCTGAGAAGAGTGTGCCTTACTCGTTTCCATATTCTCTTCCTCTCCTCCTCCCGTCTCTGCCCAGCCCCTGGCTTCCCTCTAAGAAGATGCTGTTCCTAAGGGTCTGCAATGAATTTTCCTTCTTTCAGAGAAAGACTTCCAAG... | GTATCAGCTTGAATCAATCCGTTATTTTGCTTTTTTCTGGGCCCACTAGAAATGCAATTTATGCTACTAGGCTACCTTCCCAGTGCTCTGCAAGCCAGGGCACAGCATCCAATGGGGTGAGGTCAGGCCCCACCATTATTATGGTAACCTTTGTCTATCCTTCAAATTGGAGCCTTCCTGAGAAGAGTGTGCCTTACTCGTTTCCATATTCTCTTCCTCTCCTCCTCCCGTCTCTGCCCAGCCCCTGGCTTCCCTCTAAGAAGATGCTGTTCCTAAGGGTCTGCAATGAATTTTCCTTCTTTCAGAGAAAGACTTCCAAG... |
Task1_train_10907 | A variant has been detected on Chromosome 7 in LFNG (LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Spondylocostal dysostosis 3, autosomal recessive | CGAGTCTGTGCGTGTGGCTGCCCTGGGGTGTCTATGGGTGCTGCAGGAGGGGTGCATGCATGGAGAGGCGGAGACCCAGCCTGCCACCCCCTTAGCTCTGGGCCTCACCCTAGTGAGCATGTGCCCAGGGCTGGGTCAGGCTGGATAAGGATCTGAGACTACCAAGGTGTTCCAGGGCCTCTGCGGGACCTGTGTGTACAGGGAAGGAAACTGAGGCTGGGTGGGCATCAGGGGGTTGTCCCTTGGTCAGAGCATTGCCCGTACACCCTGGGTTTTGCACTCAGCCATGCCAGGGTGCGCCGGGCGGCACGCGCTGGGCG... | CGAGTCTGTGCGTGTGGCTGCCCTGGGGTGTCTATGGGTGCTGCAGGAGGGGTGCATGCATGGAGAGGCGGAGACCCAGCCTGCCACCCCCTTAGCTCTGGGCCTCACCCTAGTGAGCATGTGCCCAGGGCTGGGTCAGGCTGGATAAGGATCTGAGACTACCAAGGTGTTCCAGGGCCTCTGCGGGACCTGTGTGTACAGGGAAGGAAACTGAGGCTGGGTGGGCATCAGGGGGTTGTCCCTTGGTCAGAGCATTGCCCGTACACCCTGGGTTTTGCACTCAGCCATGCCAGGGTGCGCCGGGCGGCACGCGCTGGGCG... |
Task1_train_10908 | The gene LFNG (LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase) on Chromosome 7 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Spondylocostal dysostosis 3, autosomal recessive | GGGTCAGGCTGGATAAGGATCTGAGACTACCAAGGTGTTCCAGGGCCTCTGCGGGACCTGTGTGTACAGGGAAGGAAACTGAGGCTGGGTGGGCATCAGGGGGTTGTCCCTTGGTCAGAGCATTGCCCGTACACCCTGGGTTTTGCACTCAGCCATGCCAGGGTGCGCCGGGCGGCACGCGCTGGGCGGGCCGGGCAGAGGAAGGAACATTCCTCCCCGTGTGCCGGCAGGCCCAGGCGGGCGCCGGCGACTCCTGGCCCCGCCCTGGCGGCCCCCTCCTCTTCCGCAGAGCGCTCCTGGCAGGGGGCGGCCGCGTGCTG... | GGGTCAGGCTGGATAAGGATCTGAGACTACCAAGGTGTTCCAGGGCCTCTGCGGGACCTGTGTGTACAGGGAAGGAAACTGAGGCTGGGTGGGCATCAGGGGGTTGTCCCTTGGTCAGAGCATTGCCCGTACACCCTGGGTTTTGCACTCAGCCATGCCAGGGTGCGCCGGGCGGCACGCGCTGGGCGGGCCGGGCAGAGGAAGGAACATTCCTCCCCGTGTGCCGGCAGGCCCAGGCGGGCGCCGGCGACTCCTGGCCCCGCCCTGGCGGCCCCCTCCTCTTCCGCAGAGCGCTCCTGGCAGGGGGCGGCCGCGTGCTG... |
Task1_train_10909 | The following genetic variant occurs in BRAT1 (BRCA1 associated ATM activator 1) on Chromosome 7. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Neonatal-onset encephalopathy with rigidity and seizures | AAAAAAAAAGAGGTGAGGGGACCTGGTAGGTTTCCAGGGATGTGGAGCAAAGCAGAGATGGGTTTTCAGTTTTCCAGGGCTGGTGGAGATACTTCTGGAGGACACTTTCTTCTTCTTTTTTTTTTTTTTGAGACAGTCCCACTCTGTTGCCTAGGCTGGAGTGCAGTGGCACATCTCGGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGCTATTTTCCTGTCTCAGCCTCCTGAGTAGCTGGCATTACAGGTGCCCACCACCACACCCAGCTAATTTTTTCATTTTTAGTAGAGACAGGGCTTTACCATGTTGGTTAGC... | AAAAAAAAAGAGGTGAGGGGACCTGGTAGGTTTCCAGGGATGTGGAGCAAAGCAGAGATGGGTTTTCAGTTTTCCAGGGCTGGTGGAGATACTTCTGGAGGACACTTTCTTCTTCTTTTTTTTTTTTTTGAGACAGTCCCACTCTGTTGCCTAGGCTGGAGTGCAGTGGCACATCTCGGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGCTATTTTCCTGTCTCAGCCTCCTGAGTAGCTGGCATTACAGGTGCCCACCACCACACCCAGCTAATTTTTTCATTTTTAGTAGAGACAGGGCTTTACCATGTTGGTTAGC... |
Task1_train_10910 | This mutation occurs in CARD11, CARD11-AS1 (caspase recruitment domain family member 11| CARD11 antisense RNA 1) on Chromosome 7. Does this change lead to a known medical condition, or is it benign? | Pathogenic; BENTA disease | CCTTCCTGTCTTTTTCCTTCCTTTTTCTTTCTCTTTCTCTCTCTCTCCCTTCCTTCCTTCCTTCCTTCCTTCTAGTTCTTTCTTTTGACAGGCATGGCTCACTGCAGCCTCGACCTCCCAGGCTCAGGTAATCGTCCTGCCTTATCACCCCTAGTAGCTGGGACTACAGGTGCATACCACCATGCCTGGCTTATTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGACTGAAGCAATCCTCCCGCCTTGGCCTCCCCAAATGCTGGGATTACAGGTGTGGGCCATCAAGCTCAGCCTTC... | CCTTCCTGTCTTTTTCCTTCCTTTTTCTTTCTCTTTCTCTCTCTCTCCCTTCCTTCCTTCCTTCCTTCCTTCTAGTTCTTTCTTTTGACAGGCATGGCTCACTGCAGCCTCGACCTCCCAGGCTCAGGTAATCGTCCTGCCTTATCACCCCTAGTAGCTGGGACTACAGGTGCATACCACCATGCCTGGCTTATTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGACTGAAGCAATCCTCCCGCCTTGGCCTCCCCAAATGCTGGGATTACAGGTGTGGGCCATCAAGCTCAGCCTTC... |
Task1_train_10911 | Given a variant located on Chromosome 7 and affecting CARD11, CARD11-AS1 (caspase recruitment domain family member 11| CARD11 antisense RNA 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; BENTA disease | TTTCTCTCTCTCTCCCTTCCTTCCTTCCTTCCTTCCTTCTAGTTCTTTCTTTTGACAGGCATGGCTCACTGCAGCCTCGACCTCCCAGGCTCAGGTAATCGTCCTGCCTTATCACCCCTAGTAGCTGGGACTACAGGTGCATACCACCATGCCTGGCTTATTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGACTGAAGCAATCCTCCCGCCTTGGCCTCCCCAAATGCTGGGATTACAGGTGTGGGCCATCAAGCTCAGCCTTCCTGCTGTTTCTTCAAAAACAAAAACAAAAACAA... | TTTCTCTCTCTCTCCCTTCCTTCCTTCCTTCCTTCCTTCTAGTTCTTTCTTTTGACAGGCATGGCTCACTGCAGCCTCGACCTCCCAGGCTCAGGTAATCGTCCTGCCTTATCACCCCTAGTAGCTGGGACTACAGGTGCATACCACCATGCCTGGCTTATTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGACTGAAGCAATCCTCCCGCCTTGGCCTCCCCAAATGCTGGGATTACAGGTGTGGGCCATCAAGCTCAGCCTTCCTGCTGTTTCTTCAAAAACAAAAACAAAAACAA... |
Task1_train_10912 | Located on Chromosome 7, this mutation impacts CARD11, CARD11-AS1 (caspase recruitment domain family member 11| CARD11 antisense RNA 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Severe combined immunodeficiency due to CARD11 deficiency | TTTCTCTCTCTCTCCCTTCCTTCCTTCCTTCCTTCCTTCTAGTTCTTTCTTTTGACAGGCATGGCTCACTGCAGCCTCGACCTCCCAGGCTCAGGTAATCGTCCTGCCTTATCACCCCTAGTAGCTGGGACTACAGGTGCATACCACCATGCCTGGCTTATTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGACTGAAGCAATCCTCCCGCCTTGGCCTCCCCAAATGCTGGGATTACAGGTGTGGGCCATCAAGCTCAGCCTTCCTGCTGTTTCTTCAAAAACAAAAACAAAAACAA... | TTTCTCTCTCTCTCCCTTCCTTCCTTCCTTCCTTCCTTCTAGTTCTTTCTTTTGACAGGCATGGCTCACTGCAGCCTCGACCTCCCAGGCTCAGGTAATCGTCCTGCCTTATCACCCCTAGTAGCTGGGACTACAGGTGCATACCACCATGCCTGGCTTATTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGACTGAAGCAATCCTCCCGCCTTGGCCTCCCCAAATGCTGGGATTACAGGTGTGGGCCATCAAGCTCAGCCTTCCTGCTGTTTCTTCAAAAACAAAAACAAAAACAA... |
Task1_train_10913 | This variant affects gene CARD11, CARD11-AS1 (caspase recruitment domain family member 11| CARD11 antisense RNA 1) located on Chromosome 7. Evaluate its biological effect and specify any disease association. | Pathogenic; Severe combined immunodeficiency due to CARD11 deficiency | TTCTCTCTCTCTCCCTTCCTTCCTTCCTTCCTTCCTTCTAGTTCTTTCTTTTGACAGGCATGGCTCACTGCAGCCTCGACCTCCCAGGCTCAGGTAATCGTCCTGCCTTATCACCCCTAGTAGCTGGGACTACAGGTGCATACCACCATGCCTGGCTTATTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGACTGAAGCAATCCTCCCGCCTTGGCCTCCCCAAATGCTGGGATTACAGGTGTGGGCCATCAAGCTCAGCCTTCCTGCTGTTTCTTCAAAAACAAAAACAAAAACAAA... | TTCTCTCTCTCTCCCTTCCTTCCTTCCTTCCTTCCTTCTAGTTCTTTCTTTTGACAGGCATGGCTCACTGCAGCCTCGACCTCCCAGGCTCAGGTAATCGTCCTGCCTTATCACCCCTAGTAGCTGGGACTACAGGTGCATACCACCATGCCTGGCTTATTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGACTGAAGCAATCCTCCCGCCTTGGCCTCCCCAAATGCTGGGATTACAGGTGTGGGCCATCAAGCTCAGCCTTCCTGCTGTTTCTTCAAAAACAAAAACAAAAACAAA... |
Task1_train_10914 | Given a variant located on Chromosome 7 and affecting CARD11, CARD11-AS1 (caspase recruitment domain family member 11| CARD11 antisense RNA 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; BENTA disease | TTCTCTCTCTCTCCCTTCCTTCCTTCCTTCCTTCCTTCTAGTTCTTTCTTTTGACAGGCATGGCTCACTGCAGCCTCGACCTCCCAGGCTCAGGTAATCGTCCTGCCTTATCACCCCTAGTAGCTGGGACTACAGGTGCATACCACCATGCCTGGCTTATTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGACTGAAGCAATCCTCCCGCCTTGGCCTCCCCAAATGCTGGGATTACAGGTGTGGGCCATCAAGCTCAGCCTTCCTGCTGTTTCTTCAAAAACAAAAACAAAAACAAA... | TTCTCTCTCTCTCCCTTCCTTCCTTCCTTCCTTCCTTCTAGTTCTTTCTTTTGACAGGCATGGCTCACTGCAGCCTCGACCTCCCAGGCTCAGGTAATCGTCCTGCCTTATCACCCCTAGTAGCTGGGACTACAGGTGCATACCACCATGCCTGGCTTATTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGACTGAAGCAATCCTCCCGCCTTGGCCTCCCCAAATGCTGGGATTACAGGTGTGGGCCATCAAGCTCAGCCTTCCTGCTGTTTCTTCAAAAACAAAAACAAAAACAAA... |
Task1_train_10915 | A mutation found in CARD11, CARD11-AS1 (caspase recruitment domain family member 11| CARD11 antisense RNA 1) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Asthma | TTCTCTCTCTCTCCCTTCCTTCCTTCCTTCCTTCCTTCTAGTTCTTTCTTTTGACAGGCATGGCTCACTGCAGCCTCGACCTCCCAGGCTCAGGTAATCGTCCTGCCTTATCACCCCTAGTAGCTGGGACTACAGGTGCATACCACCATGCCTGGCTTATTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGACTGAAGCAATCCTCCCGCCTTGGCCTCCCCAAATGCTGGGATTACAGGTGTGGGCCATCAAGCTCAGCCTTCCTGCTGTTTCTTCAAAAACAAAAACAAAAACAAA... | TTCTCTCTCTCTCCCTTCCTTCCTTCCTTCCTTCCTTCTAGTTCTTTCTTTTGACAGGCATGGCTCACTGCAGCCTCGACCTCCCAGGCTCAGGTAATCGTCCTGCCTTATCACCCCTAGTAGCTGGGACTACAGGTGCATACCACCATGCCTGGCTTATTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGACTGAAGCAATCCTCCCGCCTTGGCCTCCCCAAATGCTGGGATTACAGGTGTGGGCCATCAAGCTCAGCCTTCCTGCTGTTTCTTCAAAAACAAAAACAAAAACAAA... |
Task1_train_10916 | Gene CARD11, CARD11-AS1 (caspase recruitment domain family member 11| CARD11 antisense RNA 1), found on Chromosome 7, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Splenomegaly | TTCTCTCTCTCTCCCTTCCTTCCTTCCTTCCTTCCTTCTAGTTCTTTCTTTTGACAGGCATGGCTCACTGCAGCCTCGACCTCCCAGGCTCAGGTAATCGTCCTGCCTTATCACCCCTAGTAGCTGGGACTACAGGTGCATACCACCATGCCTGGCTTATTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGACTGAAGCAATCCTCCCGCCTTGGCCTCCCCAAATGCTGGGATTACAGGTGTGGGCCATCAAGCTCAGCCTTCCTGCTGTTTCTTCAAAAACAAAAACAAAAACAAA... | TTCTCTCTCTCTCCCTTCCTTCCTTCCTTCCTTCCTTCTAGTTCTTTCTTTTGACAGGCATGGCTCACTGCAGCCTCGACCTCCCAGGCTCAGGTAATCGTCCTGCCTTATCACCCCTAGTAGCTGGGACTACAGGTGCATACCACCATGCCTGGCTTATTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGACTGAAGCAATCCTCCCGCCTTGGCCTCCCCAAATGCTGGGATTACAGGTGTGGGCCATCAAGCTCAGCCTTCCTGCTGTTTCTTCAAAAACAAAAACAAAAACAAA... |
Task1_train_10917 | A genomic change on Chromosome 7 affects CARD11, CARD11-AS1 (caspase recruitment domain family member 11| CARD11 antisense RNA 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Osteopenia | TTCTCTCTCTCTCCCTTCCTTCCTTCCTTCCTTCCTTCTAGTTCTTTCTTTTGACAGGCATGGCTCACTGCAGCCTCGACCTCCCAGGCTCAGGTAATCGTCCTGCCTTATCACCCCTAGTAGCTGGGACTACAGGTGCATACCACCATGCCTGGCTTATTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGACTGAAGCAATCCTCCCGCCTTGGCCTCCCCAAATGCTGGGATTACAGGTGTGGGCCATCAAGCTCAGCCTTCCTGCTGTTTCTTCAAAAACAAAAACAAAAACAAA... | TTCTCTCTCTCTCCCTTCCTTCCTTCCTTCCTTCCTTCTAGTTCTTTCTTTTGACAGGCATGGCTCACTGCAGCCTCGACCTCCCAGGCTCAGGTAATCGTCCTGCCTTATCACCCCTAGTAGCTGGGACTACAGGTGCATACCACCATGCCTGGCTTATTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGACTGAAGCAATCCTCCCGCCTTGGCCTCCCCAAATGCTGGGATTACAGGTGTGGGCCATCAAGCTCAGCCTTCCTGCTGTTTCTTCAAAAACAAAAACAAAAACAAA... |
Task1_train_10918 | The following genetic variant occurs in CARD11, CARD11-AS1 (caspase recruitment domain family member 11| CARD11 antisense RNA 1) on Chromosome 7. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; BENTA disease | AAAAGAAAAAGAAAGAAAGAAAAGAAGGAAAGGAAAATAAAAGAAAAGAAAAAAGAAGATGTAAATCTCCTTAATTCATTTGCGGAGTGAGCCATTCTGGGTCTGCATGCGCATGTGCAAGGTGGATCTGGGACTGAGCCGGTGGTGGAAAGCTGCGCACTGGGTCGGTCCTTGTGCGCATGTCTGCCCATGCGCACAGGGGATGTAGGCCGCTTACCCGGTAGCGCTAAGCACTATGGGTACACGTGCAGGTGCATAGTGGACCTAGAACTCCCAGAGGCCCTGTGTCCTCCATTCCCCCACACCTGGCTGGCAGGAAG... | AAAAGAAAAAGAAAGAAAGAAAAGAAGGAAAGGAAAATAAAAGAAAAGAAAAAAGAAGATGTAAATCTCCTTAATTCATTTGCGGAGTGAGCCATTCTGGGTCTGCATGCGCATGTGCAAGGTGGATCTGGGACTGAGCCGGTGGTGGAAAGCTGCGCACTGGGTCGGTCCTTGTGCGCATGTCTGCCCATGCGCACAGGGGATGTAGGCCGCTTACCCGGTAGCGCTAAGCACTATGGGTACACGTGCAGGTGCATAGTGGACCTAGAACTCCCAGAGGCCCTGTGTCCTCCATTCCCCCACACCTGGCTGGCAGGAAG... |
Task1_train_10919 | A variant was discovered in gene CARD11, CARD11-AS1 (caspase recruitment domain family member 11| CARD11 antisense RNA 1), Chromosome 7. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Severe combined immunodeficiency due to CARD11 deficiency | AAAAGAAAAAGAAAGAAAGAAAAGAAGGAAAGGAAAATAAAAGAAAAGAAAAAAGAAGATGTAAATCTCCTTAATTCATTTGCGGAGTGAGCCATTCTGGGTCTGCATGCGCATGTGCAAGGTGGATCTGGGACTGAGCCGGTGGTGGAAAGCTGCGCACTGGGTCGGTCCTTGTGCGCATGTCTGCCCATGCGCACAGGGGATGTAGGCCGCTTACCCGGTAGCGCTAAGCACTATGGGTACACGTGCAGGTGCATAGTGGACCTAGAACTCCCAGAGGCCCTGTGTCCTCCATTCCCCCACACCTGGCTGGCAGGAAG... | AAAAGAAAAAGAAAGAAAGAAAAGAAGGAAAGGAAAATAAAAGAAAAGAAAAAAGAAGATGTAAATCTCCTTAATTCATTTGCGGAGTGAGCCATTCTGGGTCTGCATGCGCATGTGCAAGGTGGATCTGGGACTGAGCCGGTGGTGGAAAGCTGCGCACTGGGTCGGTCCTTGTGCGCATGTCTGCCCATGCGCACAGGGGATGTAGGCCGCTTACCCGGTAGCGCTAAGCACTATGGGTACACGTGCAGGTGCATAGTGGACCTAGAACTCCCAGAGGCCCTGTGTCCTCCATTCCCCCACACCTGGCTGGCAGGAAG... |
Task1_train_10920 | This sequence variant lies in CARD11 (caspase recruitment domain family member 11) on Chromosome 7. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Severe combined immunodeficiency due to CARD11 deficiency | CACTTCTCTTGGTTCCTGCTTCCCTTTGCCCCTGTTAACCTTTCATCATCAAGCAAAATAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCC... | CACTTCTCTTGGTTCCTGCTTCCCTTTGCCCCTGTTAACCTTTCATCATCAAGCAAAATAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCC... |
Task1_train_10921 | Mutation context: Chromosome 7, Gene CARD11 (caspase recruitment domain family member 11). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; BENTA disease | CACTTCTCTTGGTTCCTGCTTCCCTTTGCCCCTGTTAACCTTTCATCATCAAGCAAAATAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCC... | CACTTCTCTTGGTTCCTGCTTCCCTTTGCCCCTGTTAACCTTTCATCATCAAGCAAAATAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCC... |
Task1_train_10922 | A mutation on Chromosome 7 affecting CARD11 (caspase recruitment domain family member 11) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; BENTA disease | TCTTGGTTCCTGCTTCCCTTTGCCCCTGTTAACCTTTCATCATCAAGCAAAATAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCC... | TCTTGGTTCCTGCTTCCCTTTGCCCCTGTTAACCTTTCATCATCAAGCAAAATAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCC... |
Task1_train_10923 | This variant lies on Chromosome 7 and affects the gene CARD11 (caspase recruitment domain family member 11). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Severe combined immunodeficiency due to CARD11 deficiency | TCTTGGTTCCTGCTTCCCTTTGCCCCTGTTAACCTTTCATCATCAAGCAAAATAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCC... | TCTTGGTTCCTGCTTCCCTTTGCCCCTGTTAACCTTTCATCATCAAGCAAAATAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCC... |
Task1_train_10924 | A variant was discovered in gene CARD11 (caspase recruitment domain family member 11), Chromosome 7. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; BENTA disease | TAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACT... | TAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACT... |
Task1_train_10925 | A variant found in Chromosome 7 affects CARD11 (caspase recruitment domain family member 11). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Severe combined immunodeficiency due to CARD11 deficiency | TAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACT... | TAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACT... |
Task1_train_10926 | Here is a mutation in CARD11 (caspase recruitment domain family member 11) on Chromosome 7. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Immunodeficiency 11b with atopic dermatitis | TAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACT... | TAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACT... |
Task1_train_10927 | Here is a genetic alteration in CARD11 (caspase recruitment domain family member 11) on Chromosome 7. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; BENTA disease | TAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACT... | TAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACT... |
Task1_train_10928 | Gene CARD11 (caspase recruitment domain family member 11) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Severe combined immunodeficiency due to CARD11 deficiency | TAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACT... | TAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACT... |
Task1_train_10929 | A variant was discovered on Chromosome 7, affecting WIPI2 (WD repeat domain, phosphoinositide interacting 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Intellectual developmental disorder with short stature and variable skeletal anomalies | CAGCCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAATCCCGGCTACTCGGGAGGCTGAGGCAGGAAAATCGCTTGAACCCGGGAGTCGGAAGTTGCAGTGAGCCAAGGTCATGTCATTGCACTCCAGCTTGGGCAACAAGAGTGAGACTTCGTCTCAAAAAAAAAACTTACAGACTTTTTTTTCCTTTTGTAAATTGTTAGTTTAACTTTGAATTCAAGATGAAGGATTTATTACTTTATCTCCCCCTAAACTAATAAGACTGTCTGGCACAGAGGAA... | CAGCCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAATCCCGGCTACTCGGGAGGCTGAGGCAGGAAAATCGCTTGAACCCGGGAGTCGGAAGTTGCAGTGAGCCAAGGTCATGTCATTGCACTCCAGCTTGGGCAACAAGAGTGAGACTTCGTCTCAAAAAAAAAACTTACAGACTTTTTTTTCCTTTTGTAAATTGTTAGTTTAACTTTGAATTCAAGATGAAGGATTTATTACTTTATCTCCCCCTAAACTAATAAGACTGTCTGGCACAGAGGAA... |
Task1_train_10930 | A variant affecting Chromosome 7, within the gene WIPI2 (WD repeat domain, phosphoinositide interacting 2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Intellectual developmental disorder with short stature and variable skeletal anomalies | CTTGGTAAATAGCGCCACTTGCCACCCCCGCCAGCACCCTGGCACCCAAGCCAGAGGGACTCGGCCCTGCATCCTTCCGCCTGAATGGTGCCTCCAGGGAGCTCCCACCTGTGGGCCCGCCCTGTGCCTCTCCCGCCACGCCACCTGATCCAGGCTTTGCCTGGTTTCTGCTGTTGCCCTGGATTCCTGTCAGGCCGTTCTTCAGACTCTCACCCAGGCTGTTTGAAAAATGTAAATATAATCCAATCACACCCCACCTGACATCTCCCACCACACCTCTGTCCTGCAGGATTAGCCCCAGGCCCCTGCCTTGGTTCAGC... | CTTGGTAAATAGCGCCACTTGCCACCCCCGCCAGCACCCTGGCACCCAAGCCAGAGGGACTCGGCCCTGCATCCTTCCGCCTGAATGGTGCCTCCAGGGAGCTCCCACCTGTGGGCCCGCCCTGTGCCTCTCCCGCCACGCCACCTGATCCAGGCTTTGCCTGGTTTCTGCTGTTGCCCTGGATTCCTGTCAGGCCGTTCTTCAGACTCTCACCCAGGCTGTTTGAAAAATGTAAATATAATCCAATCACACCCCACCTGACATCTCCCACCACACCTCTGTCCTGCAGGATTAGCCCCAGGCCCCTGCCTTGGTTCAGC... |
Task1_train_10931 | The gene ACTB (actin beta) on Chromosome 7 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | TGGGGGTTGAATGATTAAGTGGCCCAAGGTGGCCCAGGGCTCACCACTGCAGAAATCAGACCAAAAGAGCTAGAACCACCCCAGAGAGCCCTTCAGGGGACCTCCAAGATAACACAGGAGGAAGGGTACCACCTTCCTCTCTGCCAGTAGGCCACTGTGCACAGTTGAGAGTCCAGGCCTCCTGGGGGGACCGGATCATTTCCAGAACAACTGCTATGCACCAGGTGGTGTTTGGGGTAAACGGCATCCCTGCAAGGGATCCTCACCCCCTTTTCTTCCTTCATTCTCTGCTGGTGTCAATCACAGCTTCTAGCAGAGGG... | TGGGGGTTGAATGATTAAGTGGCCCAAGGTGGCCCAGGGCTCACCACTGCAGAAATCAGACCAAAAGAGCTAGAACCACCCCAGAGAGCCCTTCAGGGGACCTCCAAGATAACACAGGAGGAAGGGTACCACCTTCCTCTCTGCCAGTAGGCCACTGTGCACAGTTGAGAGTCCAGGCCTCCTGGGGGGACCGGATCATTTCCAGAACAACTGCTATGCACCAGGTGGTGTTTGGGGTAAACGGCATCCCTGCAAGGGATCCTCACCCCCTTTTCTTCCTTCATTCTCTGCTGGTGTCAATCACAGCTTCTAGCAGAGGG... |
Task1_train_10932 | The following genetic variant occurs in ACTB (actin beta) on Chromosome 7. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Baraitser-Winter syndrome 1 | GTGTAGTTTCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCCAAAGTTGAGGCTGCAGTGAGCCATGGTTGTGCCATTACACTCCAGCCTGGGCAACACAAGACCCCGTCTCAGAAATAAAAAGAGAACCTGGCCTGCAGTGCCAGGCAGGCCCTGAGGTCCAGGAGCCTGGGTATCTCCCTCTGCAGCATGGGTCACGAACAAACTGGGCCCTCAGAGGCCACGGGATGGCGCCCAGTCTCCAGTCACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCC... | GTGTAGTTTCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCCAAAGTTGAGGCTGCAGTGAGCCATGGTTGTGCCATTACACTCCAGCCTGGGCAACACAAGACCCCGTCTCAGAAATAAAAAGAGAACCTGGCCTGCAGTGCCAGGCAGGCCCTGAGGTCCAGGAGCCTGGGTATCTCCCTCTGCAGCATGGGTCACGAACAAACTGGGCCCTCAGAGGCCACGGGATGGCGCCCAGTCTCCAGTCACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCC... |
Task1_train_10933 | A mutation found in ACTB (actin beta) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Baraitser-Winter syndrome 1 | GCCTGGGTATCTCCCTCTGCAGCATGGGTCACGAACAAACTGGGCCCTCAGAGGCCACGGGATGGCGCCCAGTCTCCAGTCACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACT... | GCCTGGGTATCTCCCTCTGCAGCATGGGTCACGAACAAACTGGGCCCTCAGAGGCCACGGGATGGCGCCCAGTCTCCAGTCACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACT... |
Task1_train_10934 | Mutation context: Chromosome 7, Gene ACTB (actin beta). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Baraitser-Winter syndrome 1 | CCCTCTGCAGCATGGGTCACGAACAAACTGGGCCCTCAGAGGCCACGGGATGGCGCCCAGTCTCCAGTCACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTC... | CCCTCTGCAGCATGGGTCACGAACAAACTGGGCCCTCAGAGGCCACGGGATGGCGCCCAGTCTCCAGTCACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTC... |
Task1_train_10935 | The gene ACTB (actin beta) on Chromosome 7 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Baraitser-Winter syndrome 1 | TGCAGCATGGGTCACGAACAAACTGGGCCCTCAGAGGCCACGGGATGGCGCCCAGTCTCCAGTCACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGG... | TGCAGCATGGGTCACGAACAAACTGGGCCCTCAGAGGCCACGGGATGGCGCCCAGTCTCCAGTCACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGG... |
Task1_train_10936 | An alteration has been detected in ACTB (actin beta) on Chromosome 7. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Inborn genetic diseases | GGGCCCTCAGAGGCCACGGGATGGCGCCCAGTCTCCAGTCACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAG... | GGGCCCTCAGAGGCCACGGGATGGCGCCCAGTCTCCAGTCACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAG... |
Task1_train_10937 | Consider a variant on Chromosome 7 in gene ACTB (actin beta). Determine its clinical classification and disease relevance. | Pathogenic; Baraitser-Winter syndrome 1 | GGGCCCTCAGAGGCCACGGGATGGCGCCCAGTCTCCAGTCACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAG... | GGGCCCTCAGAGGCCACGGGATGGCGCCCAGTCTCCAGTCACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAG... |
Task1_train_10938 | This alteration occurs within gene ACTB (actin beta) located on Chromosome 7. Is it associated with a disease or is it a benign variant? | Pathogenic; Baraitser-Winter syndrome 1 | GGCCCTCAGAGGCCACGGGATGGCGCCCAGTCTCCAGTCACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGA... | GGCCCTCAGAGGCCACGGGATGGCGCCCAGTCTCCAGTCACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGA... |
Task1_train_10939 | This sequence change occurs on Chromosome 7, altering ACTB (actin beta). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | GGCCCTCAGAGGCCACGGGATGGCGCCCAGTCTCCAGTCACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGA... | GGCCCTCAGAGGCCACGGGATGGCGCCCAGTCTCCAGTCACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGA... |
Task1_train_10940 | This is a variant in ACTB (actin beta), located on Chromosome 7. Is this mutation a likely cause of disease or not? | Pathogenic; Baraitser-Winter syndrome 1 | GGCCCTCAGAGGCCACGGGATGGCGCCCAGTCTCCAGTCACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGA... | GGCCCTCAGAGGCCACGGGATGGCGCCCAGTCTCCAGTCACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGA... |
Task1_train_10941 | A mutation in ACTB (actin beta), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Baraitser-Winter syndrome 1 | ACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCC... | ACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCC... |
Task1_train_10942 | A variant found in Chromosome 7 affects ACTB (actin beta). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Inborn genetic diseases | ACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCC... | ACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCC... |
Task1_train_10943 | A mutation on Chromosome 7 affecting ACTB (actin beta) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; ACTB-related BAFopathy | ACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCC... | ACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCC... |
Task1_train_10944 | A genomic change on Chromosome 7 affects ACTB (actin beta). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Developmental malformations-deafness-dystonia syndrome | ACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCC... | ACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCC... |
Task1_train_10945 | An alteration has been detected in ACTB (actin beta) on Chromosome 7. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | CCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCT... | CCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCT... |
Task1_train_10946 | This variant affects gene ACTB (actin beta) located on Chromosome 7. Evaluate its biological effect and specify any disease association. | Pathogenic; Baraitser-Winter syndrome 1 | TCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGG... | TCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGG... |
Task1_train_10947 | A variant affecting Chromosome 7, within the gene ACTB (actin beta), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Becker nevus syndrome | CTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGGGAGACAT... | CTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGGGAGACAT... |
Task1_train_10948 | The gene ACTB (actin beta) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Baraitser-Winter syndrome 1 | CTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGGGAGACAT... | CTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGGGAGACAT... |
Task1_train_10949 | Gene ACTB (actin beta) on Chromosome 7 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Baraitser-Winter syndrome 1 | ACCCAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGA... | ACCCAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGA... |
Task1_train_10950 | A variant found in Chromosome 7 affects ACTB (actin beta). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | CAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAA... | CAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAA... |
Task1_train_10951 | A mutation on Chromosome 7 affecting ACTB (actin beta) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Baraitser-Winter syndrome 1 | ACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGG... | ACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGG... |
Task1_train_10952 | This genomic variant is located on Chromosome 7, within the ACTB (actin beta) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Baraitser-Winter syndrome 1 | CACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGG... | CACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGG... |
Task1_train_10953 | Consider this mutation in ACTB (actin beta) on Chromosome 7. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | ACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGT... | ACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGT... |
Task1_train_10954 | The variant affects gene ACTB (actin beta), which is on Chromosome 7. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Inborn genetic diseases | CACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCT... | CACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCT... |
Task1_train_10955 | A genomic change on Chromosome 7 affects ACTB (actin beta). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Baraitser-Winter syndrome 1 | AAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACC... | AAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACC... |
Task1_train_10956 | The following genetic variant occurs in ACTB (actin beta) on Chromosome 7. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Baraitser-Winter syndrome 1 | GGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGT... | GGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGT... |
Task1_train_10957 | This alteration in ACTB (actin beta) on Chromosome 7 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Baraitser-Winter syndrome 1 | GCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAA... | GCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAA... |
Task1_train_10958 | The gene ACTB (actin beta) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | AATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAG... | AATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAG... |
Task1_train_10959 | Gene ACTB (actin beta), found on Chromosome 7, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Baraitser-Winter syndrome 1 | GACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGA... | GACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGA... |
Task1_train_10960 | This gene mutation involves ACTB (actin beta) on Chromosome 7. Is it associated with any clinical condition, or is it benign? | Pathogenic; Baraitser-Winter syndrome 1 | GACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGA... | GACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGA... |
Task1_train_10961 | A genomic change on Chromosome 7 affects RNF216 (ring finger protein 216). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Cerebellar ataxia-hypogonadism syndrome | ATCAGCCAGAGCTCCTTTTCAGACAATGACCTCATGTGATCCTTGGCTATGATCTAGGGGTGGCAGAGTAGAATGCTGGAAGCAACTGGATCCCAGATAAGAGCTGCTAGCCCACCCCTGGGCTGTTCATCTCTGTACTTACACATAGAGGAGAAACACACTTCTGTTTTCCTTTTTTTTTGAGAACCCAAAGTGCCGGGATTACACCCATGAGCCACCACACATGGCTCCACATTTTTTTTTTTGAGACAGAGTCTCACATTGTCACCCAGGCTGGAGTATAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCT... | ATCAGCCAGAGCTCCTTTTCAGACAATGACCTCATGTGATCCTTGGCTATGATCTAGGGGTGGCAGAGTAGAATGCTGGAAGCAACTGGATCCCAGATAAGAGCTGCTAGCCCACCCCTGGGCTGTTCATCTCTGTACTTACACATAGAGGAGAAACACACTTCTGTTTTCCTTTTTTTTTGAGAACCCAAAGTGCCGGGATTACACCCATGAGCCACCACACATGGCTCCACATTTTTTTTTTTGAGACAGAGTCTCACATTGTCACCCAGGCTGGAGTATAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCT... |
Task1_train_10962 | This mutation occurs in RNF216 (ring finger protein 216) on Chromosome 7. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Cerebellar ataxia-hypogonadism syndrome | GGACAATCAGAATGAAGGCTGTGCTTTGTAAGTAATTCTCCTTCCAAGAAACATCTCACAGCCTGCTACTGAGTCCTGTAGTAGTCCAGATGCCTTATCACAGGGCTGCATTCCCTCCTGGAGGCCTGAGGAGAGAGTATGTTTGCTGCTCATTTGGGTTGTCTGCAGAATTCAGTTGAGGTTGTAGGACCGGGGTCTCTATTTTCTTGGTGGCTGTCAGCTGAGGGTTTTCCCAACTTCTACAGGCTACCTCAATCCTTGGCTCATGGCCACCTTCATCCATCTTCAAAGCCAGCAACAGGGGGGTCAAGTCCTTCTCA... | GGACAATCAGAATGAAGGCTGTGCTTTGTAAGTAATTCTCCTTCCAAGAAACATCTCACAGCCTGCTACTGAGTCCTGTAGTAGTCCAGATGCCTTATCACAGGGCTGCATTCCCTCCTGGAGGCCTGAGGAGAGAGTATGTTTGCTGCTCATTTGGGTTGTCTGCAGAATTCAGTTGAGGTTGTAGGACCGGGGTCTCTATTTTCTTGGTGGCTGTCAGCTGAGGGTTTTCCCAACTTCTACAGGCTACCTCAATCCTTGGCTCATGGCCACCTTCATCCATCTTCAAAGCCAGCAACAGGGGGGTCAAGTCCTTCTCA... |
Task1_train_10963 | This variant affects gene RNF216 (ring finger protein 216) located on Chromosome 7. Evaluate its biological effect and specify any disease association. | Pathogenic; Cerebellar ataxia-hypogonadism syndrome | AAGTGACTTTAAAATATTTTAAATATTGAATAATGTTATTAATATTATTAAGAACCAAGACTTTTAGCATCAGAGAAAAGAAAGTTGGCAGGGCATGGTGGTGCATGCCTGTAACCCCAACAATTTGGGCGGCTGAGTTGGGAGGACGGCTTGAGGCCAGAAGTTCGAGACCAGCCTGGACAGCATGGGGAAACCCAGGCTCTACAAAAAAAGTTAGCCAGGTGTGGTGGTGCACACCTGCAGTCCCAATTACTCAGGAGGTTGAGATGGAAGGACTGCTTGAGCCCAGGAGGTAGGTTGAAGCAGTAAGCCATGATTGC... | AAGTGACTTTAAAATATTTTAAATATTGAATAATGTTATTAATATTATTAAGAACCAAGACTTTTAGCATCAGAGAAAAGAAAGTTGGCAGGGCATGGTGGTGCATGCCTGTAACCCCAACAATTTGGGCGGCTGAGTTGGGAGGACGGCTTGAGGCCAGAAGTTCGAGACCAGCCTGGACAGCATGGGGAAACCCAGGCTCTACAAAAAAAGTTAGCCAGGTGTGGTGGTGCACACCTGCAGTCCCAATTACTCAGGAGGTTGAGATGGAAGGACTGCTTGAGCCCAGGAGGTAGGTTGAAGCAGTAAGCCATGATTGC... |
Task1_train_10964 | A variant on Chromosome 7 in gene RNF216 (ring finger protein 216) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Cerebellar ataxia-hypogonadism syndrome | ACATTTTAGTCCTCATCTTGCACAAACTCTTAGCAGCATTTAATAACATAGGCTGGGCATGGTGGCAACCCAGTGCTTTAGGAGGTGGAGGTGGGAGGATAGCCTGAGGCCAGGAGTTCAAGACCAGCCTGCACAATCTAGCAAGACCCCATTTCTACAAAAAATGAAATAAAAAGATCATCCAGGTGTGGTGGCGTGCACCTGTAGTCCTAGCTACATGGGAGGCTGAGGCAGGAGGATGGCTTGAGCCCAGGTCAAGGTTGCAATAAGCCACGATTGGGCCACTGTACTCCAGCCTGGGTGAGAGAGAGAGACCCTGT... | ACATTTTAGTCCTCATCTTGCACAAACTCTTAGCAGCATTTAATAACATAGGCTGGGCATGGTGGCAACCCAGTGCTTTAGGAGGTGGAGGTGGGAGGATAGCCTGAGGCCAGGAGTTCAAGACCAGCCTGCACAATCTAGCAAGACCCCATTTCTACAAAAAATGAAATAAAAAGATCATCCAGGTGTGGTGGCGTGCACCTGTAGTCCTAGCTACATGGGAGGCTGAGGCAGGAGGATGGCTTGAGCCCAGGTCAAGGTTGCAATAAGCCACGATTGGGCCACTGTACTCCAGCCTGGGTGAGAGAGAGAGACCCTGT... |
Task1_train_10965 | The following genetic variant occurs in PMS2 (PMS1 homolog 2, mismatch repair system component) on Chromosome 7. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hereditary cancer-predisposing syndrome | AGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAGCCTGGACAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGCTGTGGTGGTACACGCCTGTAATTGCAGCTACTCAGAAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTGGAGGTTGCAGTGAACCAAGATCGCGCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTC... | AGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAGCCTGGACAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGCTGTGGTGGTACACGCCTGTAATTGCAGCTACTCAGAAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTGGAGGTTGCAGTGAACCAAGATCGCGCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTC... |
Task1_train_10966 | Mutation context: Chromosome 7, Gene PMS2 (PMS1 homolog 2, mismatch repair system component). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Hereditary cancer-predisposing syndrome | AAGATCGCGCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCCCAGTCCTAATAAACACTAT... | AAGATCGCGCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCCCAGTCCTAATAAACACTAT... |
Task1_train_10967 | Gene PMS2 (PMS1 homolog 2, mismatch repair system component) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Lynch syndrome 4 | AAGATCGCGCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCCCAGTCCTAATAAACACTAT... | AAGATCGCGCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCCCAGTCCTAATAAACACTAT... |
Task1_train_10968 | The gene PMS2 (PMS1 homolog 2, mismatch repair system component) on Chromosome 7 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Mismatch repair cancer syndrome 4 | CGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCCCAGTCCTAATAAACACTATGTGATGAAAAGAA... | CGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCCCAGTCCTAATAAACACTATGTGATGAAAAGAA... |
Task1_train_10969 | A variant found in Chromosome 7 affects PMS2 (PMS1 homolog 2, mismatch repair system component). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Hereditary nonpolyposis colorectal neoplasms | AAAAATTTACTAGTGCCCCACTTCCTACTATATGAAAGTTAAAATTTAGTCATCATTGGGGCCAAAACTACCTTCTTTTCAGAATCTCTCTAATCCTTTCCCTTCATCAAGTCCCCTACATTATTATTATTATTATTATTATTATTGTTATTATTGTTATTATTTGAGACAGAGTCTCACCCCGTTGCCTATGCTAGAGGGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACACCCAGCTAATTTTTG... | AAAAATTTACTAGTGCCCCACTTCCTACTATATGAAAGTTAAAATTTAGTCATCATTGGGGCCAAAACTACCTTCTTTTCAGAATCTCTCTAATCCTTTCCCTTCATCAAGTCCCCTACATTATTATTATTATTATTATTATTATTGTTATTATTGTTATTATTTGAGACAGAGTCTCACCCCGTTGCCTATGCTAGAGGGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACACCCAGCTAATTTTTG... |
Task1_train_10970 | This genomic variant is located on Chromosome 7, within the PMS2 (PMS1 homolog 2, mismatch repair system component) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Lynch syndrome 4 | AAAAATTTACTAGTGCCCCACTTCCTACTATATGAAAGTTAAAATTTAGTCATCATTGGGGCCAAAACTACCTTCTTTTCAGAATCTCTCTAATCCTTTCCCTTCATCAAGTCCCCTACATTATTATTATTATTATTATTATTATTGTTATTATTGTTATTATTTGAGACAGAGTCTCACCCCGTTGCCTATGCTAGAGGGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACACCCAGCTAATTTTTG... | AAAAATTTACTAGTGCCCCACTTCCTACTATATGAAAGTTAAAATTTAGTCATCATTGGGGCCAAAACTACCTTCTTTTCAGAATCTCTCTAATCCTTTCCCTTCATCAAGTCCCCTACATTATTATTATTATTATTATTATTATTGTTATTATTGTTATTATTTGAGACAGAGTCTCACCCCGTTGCCTATGCTAGAGGGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACACCCAGCTAATTTTTG... |
Task1_train_10971 | Consider a variant on Chromosome 7 in gene PMS2 (PMS1 homolog 2, mismatch repair system component). Determine its clinical classification and disease relevance. | Pathogenic; Hereditary nonpolyposis colorectal neoplasms | AAAAATTTACTAGTGCCCCACTTCCTACTATATGAAAGTTAAAATTTAGTCATCATTGGGGCCAAAACTACCTTCTTTTCAGAATCTCTCTAATCCTTTCCCTTCATCAAGTCCCCTACATTATTATTATTATTATTATTATTATTGTTATTATTGTTATTATTTGAGACAGAGTCTCACCCCGTTGCCTATGCTAGAGGGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACACCCAGCTAATTTTTG... | AAAAATTTACTAGTGCCCCACTTCCTACTATATGAAAGTTAAAATTTAGTCATCATTGGGGCCAAAACTACCTTCTTTTCAGAATCTCTCTAATCCTTTCCCTTCATCAAGTCCCCTACATTATTATTATTATTATTATTATTATTGTTATTATTGTTATTATTTGAGACAGAGTCTCACCCCGTTGCCTATGCTAGAGGGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACACCCAGCTAATTTTTG... |
Task1_train_10972 | The following genetic variant occurs in PMS2 (PMS1 homolog 2, mismatch repair system component) on Chromosome 7. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hereditary nonpolyposis colorectal neoplasms | AAAAATTTACTAGTGCCCCACTTCCTACTATATGAAAGTTAAAATTTAGTCATCATTGGGGCCAAAACTACCTTCTTTTCAGAATCTCTCTAATCCTTTCCCTTCATCAAGTCCCCTACATTATTATTATTATTATTATTATTATTGTTATTATTGTTATTATTTGAGACAGAGTCTCACCCCGTTGCCTATGCTAGAGGGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACACCCAGCTAATTTTTG... | AAAAATTTACTAGTGCCCCACTTCCTACTATATGAAAGTTAAAATTTAGTCATCATTGGGGCCAAAACTACCTTCTTTTCAGAATCTCTCTAATCCTTTCCCTTCATCAAGTCCCCTACATTATTATTATTATTATTATTATTATTGTTATTATTGTTATTATTTGAGACAGAGTCTCACCCCGTTGCCTATGCTAGAGGGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACACCCAGCTAATTTTTG... |
Task1_train_10973 | Assess the clinical impact of this variant on gene PMS2 (PMS1 homolog 2, mismatch repair system component), found on Chromosome 7. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Hereditary cancer-predisposing syndrome | AAAAATTTACTAGTGCCCCACTTCCTACTATATGAAAGTTAAAATTTAGTCATCATTGGGGCCAAAACTACCTTCTTTTCAGAATCTCTCTAATCCTTTCCCTTCATCAAGTCCCCTACATTATTATTATTATTATTATTATTATTGTTATTATTGTTATTATTTGAGACAGAGTCTCACCCCGTTGCCTATGCTAGAGGGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACACCCAGCTAATTTTTG... | AAAAATTTACTAGTGCCCCACTTCCTACTATATGAAAGTTAAAATTTAGTCATCATTGGGGCCAAAACTACCTTCTTTTCAGAATCTCTCTAATCCTTTCCCTTCATCAAGTCCCCTACATTATTATTATTATTATTATTATTATTGTTATTATTGTTATTATTTGAGACAGAGTCTCACCCCGTTGCCTATGCTAGAGGGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACACCCAGCTAATTTTTG... |
Task1_train_10974 | Here is a genetic alteration in PMS2 (PMS1 homolog 2, mismatch repair system component) on Chromosome 7. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Lynch syndrome 4 | AAAAATTTACTAGTGCCCCACTTCCTACTATATGAAAGTTAAAATTTAGTCATCATTGGGGCCAAAACTACCTTCTTTTCAGAATCTCTCTAATCCTTTCCCTTCATCAAGTCCCCTACATTATTATTATTATTATTATTATTATTGTTATTATTGTTATTATTTGAGACAGAGTCTCACCCCGTTGCCTATGCTAGAGGGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACACCCAGCTAATTTTTG... | AAAAATTTACTAGTGCCCCACTTCCTACTATATGAAAGTTAAAATTTAGTCATCATTGGGGCCAAAACTACCTTCTTTTCAGAATCTCTCTAATCCTTTCCCTTCATCAAGTCCCCTACATTATTATTATTATTATTATTATTATTGTTATTATTGTTATTATTTGAGACAGAGTCTCACCCCGTTGCCTATGCTAGAGGGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACACCCAGCTAATTTTTG... |
Task1_train_10975 | This alteration occurs within gene PMS2 (PMS1 homolog 2, mismatch repair system component) located on Chromosome 7. Is it associated with a disease or is it a benign variant? | Pathogenic; Hereditary cancer-predisposing syndrome | AAATTTACTAGTGCCCCACTTCCTACTATATGAAAGTTAAAATTTAGTCATCATTGGGGCCAAAACTACCTTCTTTTCAGAATCTCTCTAATCCTTTCCCTTCATCAAGTCCCCTACATTATTATTATTATTATTATTATTATTGTTATTATTGTTATTATTTGAGACAGAGTCTCACCCCGTTGCCTATGCTAGAGGGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACACCCAGCTAATTTTTGTG... | AAATTTACTAGTGCCCCACTTCCTACTATATGAAAGTTAAAATTTAGTCATCATTGGGGCCAAAACTACCTTCTTTTCAGAATCTCTCTAATCCTTTCCCTTCATCAAGTCCCCTACATTATTATTATTATTATTATTATTATTGTTATTATTGTTATTATTTGAGACAGAGTCTCACCCCGTTGCCTATGCTAGAGGGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACACCCAGCTAATTTTTGTG... |
Task1_train_10976 | Here is a variant affecting PMS2 (PMS1 homolog 2, mismatch repair system component) on Chromosome 7. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Lynch syndrome 4 | AAATTTACTAGTGCCCCACTTCCTACTATATGAAAGTTAAAATTTAGTCATCATTGGGGCCAAAACTACCTTCTTTTCAGAATCTCTCTAATCCTTTCCCTTCATCAAGTCCCCTACATTATTATTATTATTATTATTATTATTGTTATTATTGTTATTATTTGAGACAGAGTCTCACCCCGTTGCCTATGCTAGAGGGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACACCCAGCTAATTTTTGTG... | AAATTTACTAGTGCCCCACTTCCTACTATATGAAAGTTAAAATTTAGTCATCATTGGGGCCAAAACTACCTTCTTTTCAGAATCTCTCTAATCCTTTCCCTTCATCAAGTCCCCTACATTATTATTATTATTATTATTATTATTGTTATTATTGTTATTATTTGAGACAGAGTCTCACCCCGTTGCCTATGCTAGAGGGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACACCCAGCTAATTTTTGTG... |
Task1_train_10977 | A variant on Chromosome 7 in gene PMS2 (PMS1 homolog 2, mismatch repair system component) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hereditary nonpolyposis colorectal neoplasms | AAATTTACTAGTGCCCCACTTCCTACTATATGAAAGTTAAAATTTAGTCATCATTGGGGCCAAAACTACCTTCTTTTCAGAATCTCTCTAATCCTTTCCCTTCATCAAGTCCCCTACATTATTATTATTATTATTATTATTATTGTTATTATTGTTATTATTTGAGACAGAGTCTCACCCCGTTGCCTATGCTAGAGGGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACACCCAGCTAATTTTTGTG... | AAATTTACTAGTGCCCCACTTCCTACTATATGAAAGTTAAAATTTAGTCATCATTGGGGCCAAAACTACCTTCTTTTCAGAATCTCTCTAATCCTTTCCCTTCATCAAGTCCCCTACATTATTATTATTATTATTATTATTATTGTTATTATTGTTATTATTTGAGACAGAGTCTCACCCCGTTGCCTATGCTAGAGGGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACACCCAGCTAATTTTTGTG... |
Task1_train_10978 | An alteration has been detected in PMS2 (PMS1 homolog 2, mismatch repair system component) on Chromosome 7. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hereditary nonpolyposis colon cancer | AAATTTACTAGTGCCCCACTTCCTACTATATGAAAGTTAAAATTTAGTCATCATTGGGGCCAAAACTACCTTCTTTTCAGAATCTCTCTAATCCTTTCCCTTCATCAAGTCCCCTACATTATTATTATTATTATTATTATTATTGTTATTATTGTTATTATTTGAGACAGAGTCTCACCCCGTTGCCTATGCTAGAGGGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACACCCAGCTAATTTTTGTG... | AAATTTACTAGTGCCCCACTTCCTACTATATGAAAGTTAAAATTTAGTCATCATTGGGGCCAAAACTACCTTCTTTTCAGAATCTCTCTAATCCTTTCCCTTCATCAAGTCCCCTACATTATTATTATTATTATTATTATTATTGTTATTATTGTTATTATTTGAGACAGAGTCTCACCCCGTTGCCTATGCTAGAGGGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACACCCAGCTAATTTTTGTG... |
Task1_train_10979 | Here’s a variant in RAC1 (Rac family small GTPase 1) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | TTATCACACGCATAATTTCATGTGATGATTGCATTCTTAATTTTTAAATTTAACAACTGCACTTACTTCATGAGGTCTTGTTCATTGATACATCTTTAGCACCTAGTGTGCTTCTGGTGTAGCACACGGTTGATATAAATTGAAATTGAATTAATGCTCACAGTAGTTTGGGGATGGAGCTGGTAGTTCTGCATTAATTTTGCAGGTGAAAAAAAAAGGCATGAGGAAGTTGAAACTTGCCAAAAAATACAGCCAGTACGTGCTAGAATTGGCCCTGGGTCTCAAATCTGGGCTTCTGACTCCAAAGCTTAGGCTCCTGC... | TTATCACACGCATAATTTCATGTGATGATTGCATTCTTAATTTTTAAATTTAACAACTGCACTTACTTCATGAGGTCTTGTTCATTGATACATCTTTAGCACCTAGTGTGCTTCTGGTGTAGCACACGGTTGATATAAATTGAAATTGAATTAATGCTCACAGTAGTTTGGGGATGGAGCTGGTAGTTCTGCATTAATTTTGCAGGTGAAAAAAAAAGGCATGAGGAAGTTGAAACTTGCCAAAAAATACAGCCAGTACGTGCTAGAATTGGCCCTGGGTCTCAAATCTGGGCTTCTGACTCCAAAGCTTAGGCTCCTGC... |
Task1_train_10980 | A sequence alteration has been identified in RAC1 (Rac family small GTPase 1) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; not provided | ACATTTCCTTCCTTCCTTCCCTCCCTCCCTCTCTCCCTCCCTTCCTCCCTTCCTTTCTTCCCTCCCTCCTCCTCTCCCTCCCTCTCTCCCTCCTTCCCTCCTCTCCTACTCCTTCCCTCCTTCCCTCCTTCCTTCTCCTTTCTTTTCCCCTCCCTCCCTTGCTCCCTCCCTCCCTCCCTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCTTGCAGTATTGCCCAGGCCGGACTTGAAGTACTGGTCCTTCCACCTCAGCCTATTGAGTAGCATGCTCCACTGCACGTAGCCTGATGGAACGTTTTGTAAATAATCCTCA... | ACATTTCCTTCCTTCCTTCCCTCCCTCCCTCTCTCCCTCCCTTCCTCCCTTCCTTTCTTCCCTCCCTCCTCCTCTCCCTCCCTCTCTCCCTCCTTCCCTCCTCTCCTACTCCTTCCCTCCTTCCCTCCTTCCTTCTCCTTTCTTTTCCCCTCCCTCCCTTGCTCCCTCCCTCCCTCCCTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCTTGCAGTATTGCCCAGGCCGGACTTGAAGTACTGGTCCTTCCACCTCAGCCTATTGAGTAGCATGCTCCACTGCACGTAGCCTGATGGAACGTTTTGTAAATAATCCTCA... |
Task1_train_10981 | Here is a variant affecting RAC1 (Rac family small GTPase 1) on Chromosome 7. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | CTCTCCCTCCCTTCCTCCCTTCCTTTCTTCCCTCCCTCCTCCTCTCCCTCCCTCTCTCCCTCCTTCCCTCCTCTCCTACTCCTTCCCTCCTTCCCTCCTTCCTTCTCCTTTCTTTTCCCCTCCCTCCCTTGCTCCCTCCCTCCCTCCCTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCTTGCAGTATTGCCCAGGCCGGACTTGAAGTACTGGTCCTTCCACCTCAGCCTATTGAGTAGCATGCTCCACTGCACGTAGCCTGATGGAACGTTTTGTAAATAATCCTCAGTCTGTCATTTGTCTTTGTACTTCATTATG... | CTCTCCCTCCCTTCCTCCCTTCCTTTCTTCCCTCCCTCCTCCTCTCCCTCCCTCTCTCCCTCCTTCCCTCCTCTCCTACTCCTTCCCTCCTTCCCTCCTTCCTTCTCCTTTCTTTTCCCCTCCCTCCCTTGCTCCCTCCCTCCCTCCCTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCTTGCAGTATTGCCCAGGCCGGACTTGAAGTACTGGTCCTTCCACCTCAGCCTATTGAGTAGCATGCTCCACTGCACGTAGCCTGATGGAACGTTTTGTAAATAATCCTCAGTCTGTCATTTGTCTTTGTACTTCATTATG... |
Task1_train_10982 | Chromosome 7 houses a mutation in gene RAC1 (Rac family small GTPase 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Intellectual disability, autosomal dominant 48 | TCCCTCCCTTCCTCCCTTCCTTTCTTCCCTCCCTCCTCCTCTCCCTCCCTCTCTCCCTCCTTCCCTCCTCTCCTACTCCTTCCCTCCTTCCCTCCTTCCTTCTCCTTTCTTTTCCCCTCCCTCCCTTGCTCCCTCCCTCCCTCCCTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCTTGCAGTATTGCCCAGGCCGGACTTGAAGTACTGGTCCTTCCACCTCAGCCTATTGAGTAGCATGCTCCACTGCACGTAGCCTGATGGAACGTTTTGTAAATAATCCTCAGTCTGTCATTTGTCTTTGTACTTCATTATGGTG... | TCCCTCCCTTCCTCCCTTCCTTTCTTCCCTCCCTCCTCCTCTCCCTCCCTCTCTCCCTCCTTCCCTCCTCTCCTACTCCTTCCCTCCTTCCCTCCTTCCTTCTCCTTTCTTTTCCCCTCCCTCCCTTGCTCCCTCCCTCCCTCCCTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCTTGCAGTATTGCCCAGGCCGGACTTGAAGTACTGGTCCTTCCACCTCAGCCTATTGAGTAGCATGCTCCACTGCACGTAGCCTGATGGAACGTTTTGTAAATAATCCTCAGTCTGTCATTTGTCTTTGTACTTCATTATGGTG... |
Task1_train_10983 | A sequence alteration has been identified in RAC1 (Rac family small GTPase 1) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; not provided | CCTTCCTCCCTTCCTTTCTTCCCTCCCTCCTCCTCTCCCTCCCTCTCTCCCTCCTTCCCTCCTCTCCTACTCCTTCCCTCCTTCCCTCCTTCCTTCTCCTTTCTTTTCCCCTCCCTCCCTTGCTCCCTCCCTCCCTCCCTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCTTGCAGTATTGCCCAGGCCGGACTTGAAGTACTGGTCCTTCCACCTCAGCCTATTGAGTAGCATGCTCCACTGCACGTAGCCTGATGGAACGTTTTGTAAATAATCCTCAGTCTGTCATTTGTCTTTGTACTTCATTATGGTGTCTTCT... | CCTTCCTCCCTTCCTTTCTTCCCTCCCTCCTCCTCTCCCTCCCTCTCTCCCTCCTTCCCTCCTCTCCTACTCCTTCCCTCCTTCCCTCCTTCCTTCTCCTTTCTTTTCCCCTCCCTCCCTTGCTCCCTCCCTCCCTCCCTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCTTGCAGTATTGCCCAGGCCGGACTTGAAGTACTGGTCCTTCCACCTCAGCCTATTGAGTAGCATGCTCCACTGCACGTAGCCTGATGGAACGTTTTGTAAATAATCCTCAGTCTGTCATTTGTCTTTGTACTTCATTATGGTGTCTTCT... |
Task1_train_10984 | An alteration has been detected in RAC1 (Rac family small GTPase 1) on Chromosome 7. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Intellectual disability, autosomal dominant 48 | CCTTTCTTCCCTCCCTCCTCCTCTCCCTCCCTCTCTCCCTCCTTCCCTCCTCTCCTACTCCTTCCCTCCTTCCCTCCTTCCTTCTCCTTTCTTTTCCCCTCCCTCCCTTGCTCCCTCCCTCCCTCCCTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCTTGCAGTATTGCCCAGGCCGGACTTGAAGTACTGGTCCTTCCACCTCAGCCTATTGAGTAGCATGCTCCACTGCACGTAGCCTGATGGAACGTTTTGTAAATAATCCTCAGTCTGTCATTTGTCTTTGTACTTCATTATGGTGTCTTCTGCCATATAGAAA... | CCTTTCTTCCCTCCCTCCTCCTCTCCCTCCCTCTCTCCCTCCTTCCCTCCTCTCCTACTCCTTCCCTCCTTCCCTCCTTCCTTCTCCTTTCTTTTCCCCTCCCTCCCTTGCTCCCTCCCTCCCTCCCTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCTTGCAGTATTGCCCAGGCCGGACTTGAAGTACTGGTCCTTCCACCTCAGCCTATTGAGTAGCATGCTCCACTGCACGTAGCCTGATGGAACGTTTTGTAAATAATCCTCAGTCTGTCATTTGTCTTTGTACTTCATTATGGTGTCTTCTGCCATATAGAAA... |
Task1_train_10985 | Consider this mutation in RAC1 (Rac family small GTPase 1) on Chromosome 7. Is this a benign change or a disease-causing variant? | Pathogenic; Intellectual disability, autosomal dominant 48 | CCTTTCTTCCCTCCCTCCTCCTCTCCCTCCCTCTCTCCCTCCTTCCCTCCTCTCCTACTCCTTCCCTCCTTCCCTCCTTCCTTCTCCTTTCTTTTCCCCTCCCTCCCTTGCTCCCTCCCTCCCTCCCTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCTTGCAGTATTGCCCAGGCCGGACTTGAAGTACTGGTCCTTCCACCTCAGCCTATTGAGTAGCATGCTCCACTGCACGTAGCCTGATGGAACGTTTTGTAAATAATCCTCAGTCTGTCATTTGTCTTTGTACTTCATTATGGTGTCTTCTGCCATATAGAAA... | CCTTTCTTCCCTCCCTCCTCCTCTCCCTCCCTCTCTCCCTCCTTCCCTCCTCTCCTACTCCTTCCCTCCTTCCCTCCTTCCTTCTCCTTTCTTTTCCCCTCCCTCCCTTGCTCCCTCCCTCCCTCCCTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCTTGCAGTATTGCCCAGGCCGGACTTGAAGTACTGGTCCTTCCACCTCAGCCTATTGAGTAGCATGCTCCACTGCACGTAGCCTGATGGAACGTTTTGTAAATAATCCTCAGTCTGTCATTTGTCTTTGTACTTCATTATGGTGTCTTCTGCCATATAGAAA... |
Task1_train_10986 | Mutation context: Chromosome 7, Gene RAC1 (Rac family small GTPase 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Intellectual disability, autosomal dominant 48 | TTTTAGCAATTTGCTACTTAAGTACATGATTGGGTTTTTTTTTTTCTTTTGAGACGGAGGTCTCACTCTGTTGTGTCCAGGCTGGAGTTGTAGTGGTGACATCAGAGCTCACTGTAGCCTTGAACTCCTGGGCTCAAACAGTTCTCCTGCCCCAGCCTCCTGAGTTGCTGGGACCATAAATGTGCACCACCATGCGTGGCTAATCTTAAAAGAATTTTTGTATGGCTGGTTTTGTAGACCCTGGCTTGTCTCAAACTCCTGGGTTGAAGTGATCTTTCAGCTTCAGCCTCCCAAAGTGGTGGGATTATAGCTGTGAGCCA... | TTTTAGCAATTTGCTACTTAAGTACATGATTGGGTTTTTTTTTTTCTTTTGAGACGGAGGTCTCACTCTGTTGTGTCCAGGCTGGAGTTGTAGTGGTGACATCAGAGCTCACTGTAGCCTTGAACTCCTGGGCTCAAACAGTTCTCCTGCCCCAGCCTCCTGAGTTGCTGGGACCATAAATGTGCACCACCATGCGTGGCTAATCTTAAAAGAATTTTTGTATGGCTGGTTTTGTAGACCCTGGCTTGTCTCAAACTCCTGGGTTGAAGTGATCTTTCAGCTTCAGCCTCCCAAAGTGGTGGGATTATAGCTGTGAGCCA... |
Task1_train_10987 | This mutation occurs in KDELR2 (KDEL endoplasmic reticulum protein retention receptor 2) on Chromosome 7. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Osteogenesis imperfecta, type 21 | AGCCAAGATTGTACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCTAGGCGTGGTGGCTCACGCCTGTAATCCCAATACTTTGGGAGGCTGAGGTGTGCGGATCACGAGGTTGGGAGTTCAAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTATTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGCGCACCTGTAATCCCAGTTACTAGGGTGGTCAAGGCACGAGAATCACTTGAAGCTGCAAGGTGGAGGTTGCAG... | AGCCAAGATTGTACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCTAGGCGTGGTGGCTCACGCCTGTAATCCCAATACTTTGGGAGGCTGAGGTGTGCGGATCACGAGGTTGGGAGTTCAAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTATTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGCGCACCTGTAATCCCAGTTACTAGGGTGGTCAAGGCACGAGAATCACTTGAAGCTGCAAGGTGGAGGTTGCAG... |
Task1_train_10988 | Chromosome 7 houses a mutation in gene KDELR2 (KDEL endoplasmic reticulum protein retention receptor 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Osteogenesis imperfecta, type 21 | AAAAAAAAAAAGCTAGGCGTGGTGGCTCACGCCTGTAATCCCAATACTTTGGGAGGCTGAGGTGTGCGGATCACGAGGTTGGGAGTTCAAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTATTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGCGCACCTGTAATCCCAGTTACTAGGGTGGTCAAGGCACGAGAATCACTTGAAGCTGCAAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGTGTGACAGAGCAAGACTCAGTCTCAAAACAAAACAAAACAAAACAAAATTAGCC... | AAAAAAAAAAAGCTAGGCGTGGTGGCTCACGCCTGTAATCCCAATACTTTGGGAGGCTGAGGTGTGCGGATCACGAGGTTGGGAGTTCAAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTATTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGCGCACCTGTAATCCCAGTTACTAGGGTGGTCAAGGCACGAGAATCACTTGAAGCTGCAAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGTGTGACAGAGCAAGACTCAGTCTCAAAACAAAACAAAACAAAACAAAATTAGCC... |
Task1_train_10989 | A sequence alteration has been identified in KDELR2, LOC129997936 (KDEL endoplasmic reticulum protein retention receptor 2| ATAC-STARR-seq lymphoblastoid silent region 17944) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; Osteogenesis imperfecta, type 21 | ATTTATTTATTTATTTATTTATTTAGAGACGGTTTCGCTCTCGTTGCCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACCGCAATCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTACCGAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGTGATTACAGGCATGAGCCATCGCGGCCGGCCCTCCTAAGGTTATTTTAA... | ATTTATTTATTTATTTATTTATTTAGAGACGGTTTCGCTCTCGTTGCCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACCGCAATCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTACCGAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGTGATTACAGGCATGAGCCATCGCGGCCGGCCCTCCTAAGGTTATTTTAA... |
Task1_train_10990 | Gene CRPPA (CDP-L-ribitol pyrophosphorylase A) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | ATTGTCTCTGGATGTGTCTGTGAGGGTGTTGCCAGAGGGGAGTGACATTTGAGTCGGTGGACTGGGAGAGGAAAACCCACCTTCAATGTGGGTGGGACAATTCAATTGGTTGCCAGCACAGCTAGAACGAAGCAGGCAGAAGAAGGTGGGATAAGCTGGCTTGCTAAGTCTTCTGGCTATCATCTTTCTCCTGTGCTGGATGCTTACTCCTGTTCCCTCTGCCCTTGGACATCAGACAACAGGCTCTTCAGCCTTTGAAGGCTGCACTCTCAACTTCTCTACTTTTGAGGCTTTTGGACTTGAATTGAACCACTACCAGC... | ATTGTCTCTGGATGTGTCTGTGAGGGTGTTGCCAGAGGGGAGTGACATTTGAGTCGGTGGACTGGGAGAGGAAAACCCACCTTCAATGTGGGTGGGACAATTCAATTGGTTGCCAGCACAGCTAGAACGAAGCAGGCAGAAGAAGGTGGGATAAGCTGGCTTGCTAAGTCTTCTGGCTATCATCTTTCTCCTGTGCTGGATGCTTACTCCTGTTCCCTCTGCCCTTGGACATCAGACAACAGGCTCTTCAGCCTTTGAAGGCTGCACTCTCAACTTCTCTACTTTTGAGGCTTTTGGACTTGAATTGAACCACTACCAGC... |
Task1_train_10991 | Assess the clinical impact of this variant on gene CRPPA (CDP-L-ribitol pyrophosphorylase A), found on Chromosome 7. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | GGATGTGTCTGTGAGGGTGTTGCCAGAGGGGAGTGACATTTGAGTCGGTGGACTGGGAGAGGAAAACCCACCTTCAATGTGGGTGGGACAATTCAATTGGTTGCCAGCACAGCTAGAACGAAGCAGGCAGAAGAAGGTGGGATAAGCTGGCTTGCTAAGTCTTCTGGCTATCATCTTTCTCCTGTGCTGGATGCTTACTCCTGTTCCCTCTGCCCTTGGACATCAGACAACAGGCTCTTCAGCCTTTGAAGGCTGCACTCTCAACTTCTCTACTTTTGAGGCTTTTGGACTTGAATTGAACCACTACCAGCTTCTTTCTT... | GGATGTGTCTGTGAGGGTGTTGCCAGAGGGGAGTGACATTTGAGTCGGTGGACTGGGAGAGGAAAACCCACCTTCAATGTGGGTGGGACAATTCAATTGGTTGCCAGCACAGCTAGAACGAAGCAGGCAGAAGAAGGTGGGATAAGCTGGCTTGCTAAGTCTTCTGGCTATCATCTTTCTCCTGTGCTGGATGCTTACTCCTGTTCCCTCTGCCCTTGGACATCAGACAACAGGCTCTTCAGCCTTTGAAGGCTGCACTCTCAACTTCTCTACTTTTGAGGCTTTTGGACTTGAATTGAACCACTACCAGCTTCTTTCTT... |
Task1_train_10992 | Chromosome 7 houses a mutation in gene CRPPA (CDP-L-ribitol pyrophosphorylase A). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | ATTAATAAACTTGAAAAAATTCTTAAACATGGATGTATATAAAACTCATGATTTTACCCTTTATGTTTTAACACCAACAAAAACAAGGCAATATTTCTAAAAGAAACTGTATTTCTGAGGTTTCCTTAAACAAGTTGTAAAGTTTTGTTCTGAACCAGCTTCTTAATCTAATCAGAAAATTACAGATTTCACTGAAATATACTTTGTTTCATTTAAGATGCATTATGTGATTAAATCTTACAAATTATATTCTAAGAAACAATCTAATAGGAACTCCCTCAAATCTGCAAAAAGTAACTGCTATGTATTTTAATATGTTC... | ATTAATAAACTTGAAAAAATTCTTAAACATGGATGTATATAAAACTCATGATTTTACCCTTTATGTTTTAACACCAACAAAAACAAGGCAATATTTCTAAAAGAAACTGTATTTCTGAGGTTTCCTTAAACAAGTTGTAAAGTTTTGTTCTGAACCAGCTTCTTAATCTAATCAGAAAATTACAGATTTCACTGAAATATACTTTGTTTCATTTAAGATGCATTATGTGATTAAATCTTACAAATTATATTCTAAGAAACAATCTAATAGGAACTCCCTCAAATCTGCAAAAAGTAACTGCTATGTATTTTAATATGTTC... |
Task1_train_10993 | Located on Chromosome 7, this mutation impacts CRPPA (CDP-L-ribitol pyrophosphorylase A). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | GAAACTGTATTTCTGAGGTTTCCTTAAACAAGTTGTAAAGTTTTGTTCTGAACCAGCTTCTTAATCTAATCAGAAAATTACAGATTTCACTGAAATATACTTTGTTTCATTTAAGATGCATTATGTGATTAAATCTTACAAATTATATTCTAAGAAACAATCTAATAGGAACTCCCTCAAATCTGCAAAAAGTAACTGCTATGTATTTTAATATGTTCTATTAAATCACATGTAAGACAATGATATACTTAGCATATTAATTGGAGCAAGATAAAAGACTTCTTTTGCCTTTTACAACATACTCTCAGAAGACTCACTTT... | GAAACTGTATTTCTGAGGTTTCCTTAAACAAGTTGTAAAGTTTTGTTCTGAACCAGCTTCTTAATCTAATCAGAAAATTACAGATTTCACTGAAATATACTTTGTTTCATTTAAGATGCATTATGTGATTAAATCTTACAAATTATATTCTAAGAAACAATCTAATAGGAACTCCCTCAAATCTGCAAAAAGTAACTGCTATGTATTTTAATATGTTCTATTAAATCACATGTAAGACAATGATATACTTAGCATATTAATTGGAGCAAGATAAAAGACTTCTTTTGCCTTTTACAACATACTCTCAGAAGACTCACTTT... |
Task1_train_10994 | This variant affects the gene CRPPA, LOC129998004 (CDP-L-ribitol pyrophosphorylase A| ATAC-STARR-seq lymphoblastoid silent region 17981) found on Chromosome 7. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2U | GAAATGGAATAAAGTTAGCAACTGGAATCATTTCAAATTTTGAGTTTCAGATGTAATCATTGGGCAGATTACCTAAATCAGTGATTATGGCTTTTTACACTTCCATTTTCCAAACTCCAATATTCAGAAAGTAAAATAGTCATATGAGAACCTGAAACTGCCTTTGTGAAAATTATAACTGAGGAAATTAGGACAGTGAAAGATCAGTCCTAACTAACTCCATCTTGCTTCTAACCATTAAGCTCATTCCTTGGCATAGGCCGAACTAACCTTGGGAAGGAATTTAGTTTATGGTTTGACTCTGGAACAAAATTGATAAT... | GAAATGGAATAAAGTTAGCAACTGGAATCATTTCAAATTTTGAGTTTCAGATGTAATCATTGGGCAGATTACCTAAATCAGTGATTATGGCTTTTTACACTTCCATTTTCCAAACTCCAATATTCAGAAAGTAAAATAGTCATATGAGAACCTGAAACTGCCTTTGTGAAAATTATAACTGAGGAAATTAGGACAGTGAAAGATCAGTCCTAACTAACTCCATCTTGCTTCTAACCATTAAGCTCATTCCTTGGCATAGGCCGAACTAACCTTGGGAAGGAATTTAGTTTATGGTTTGACTCTGGAACAAAATTGATAAT... |
Task1_train_10995 | The variant affects gene CRPPA, LOC129998005 (CDP-L-ribitol pyrophosphorylase A| ATAC-STARR-seq lymphoblastoid silent region 17982), which is on Chromosome 7. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | CCTTTGTGAAAATTATAACTGAGGAAATTAGGACAGTGAAAGATCAGTCCTAACTAACTCCATCTTGCTTCTAACCATTAAGCTCATTCCTTGGCATAGGCCGAACTAACCTTGGGAAGGAATTTAGTTTATGGTTTGACTCTGGAACAAAATTGATAATAGCCCTTTCCCAAAAAGACCCCTTTCTTGCCTGGGGACCAGTCTGCCTTCACAGGACTAACAAATTAGCTACAAGATTAGAAATTACAGTTTAGGGGTCATGCATCCTCTGGCTGCAAGAGTCTGAACCTCTCCAAATTGCTCCTGGGGATAACATCACT... | CCTTTGTGAAAATTATAACTGAGGAAATTAGGACAGTGAAAGATCAGTCCTAACTAACTCCATCTTGCTTCTAACCATTAAGCTCATTCCTTGGCATAGGCCGAACTAACCTTGGGAAGGAATTTAGTTTATGGTTTGACTCTGGAACAAAATTGATAATAGCCCTTTCCCAAAAAGACCCCTTTCTTGCCTGGGGACCAGTCTGCCTTCACAGGACTAACAAATTAGCTACAAGATTAGAAATTACAGTTTAGGGGTCATGCATCCTCTGGCTGCAAGAGTCTGAACCTCTCCAAATTGCTCCTGGGGATAACATCACT... |
Task1_train_10996 | This mutation occurs in AGR2 (anterior gradient 2, protein disulphide isomerase family member) on Chromosome 7. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Respiratory infections, recurrent, and failure to thrive with or without diarrhea | TTTCTTCATGTTGTCAAGCACTAATGGGGGATAAAAGCAGGAGAGTCAAGACACCATCGTGCGTTATATCGATATAATAAACCCCAAACTTGGATGCTCAATTCATTATTTAATGGGATGCTTTTTTTTTTGAGACAAGGTCTCACTCCCACTCAGGCTGGCATGCAGTGGTGCAATCTCCACTCAGTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTTCAGCCTTAGCCTCCTGAGTAGCTGGGATTAGAGGTGTGCTCCACCATGCCCAGCTAATTTTTGTATTTTTGGGAGAGATGGGGTTTTGGTATGCTGGCC... | TTTCTTCATGTTGTCAAGCACTAATGGGGGATAAAAGCAGGAGAGTCAAGACACCATCGTGCGTTATATCGATATAATAAACCCCAAACTTGGATGCTCAATTCATTATTTAATGGGATGCTTTTTTTTTTGAGACAAGGTCTCACTCCCACTCAGGCTGGCATGCAGTGGTGCAATCTCCACTCAGTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTTCAGCCTTAGCCTCCTGAGTAGCTGGGATTAGAGGTGTGCTCCACCATGCCCAGCTAATTTTTGTATTTTTGGGAGAGATGGGGTTTTGGTATGCTGGCC... |
Task1_train_10997 | This alteration occurs within gene AGR2 (anterior gradient 2, protein disulphide isomerase family member) located on Chromosome 7. Is it associated with a disease or is it a benign variant? | Pathogenic; Respiratory infections, recurrent, and failure to thrive with or without diarrhea | ATGTTTTGTATTTAACTTGAAGTGATCTAATTAATGAGAAAAAGAGGTATTTTAAAATTAAGGTGCATCCAAAAGGGAAGCGTGAGGATACAGAGAGATCTGGAAACCTTGCCTTGAGAGACGTAATCGAAAGAACCTAGGACACGTGCCCTGAAAATGAGACAAGGAAGACATGTGAGAACCATCTGCATGTTTGCAAAGTCTGTCGCTGGTACTGGAGTGGGCAATCTGTCATTTCAGAATGTTGGACTAAGGCCAGACACATAAATTACAAGAAGCAGATGTACATTTATTCACCAGATTTAAGACCAACTATACTT... | ATGTTTTGTATTTAACTTGAAGTGATCTAATTAATGAGAAAAAGAGGTATTTTAAAATTAAGGTGCATCCAAAAGGGAAGCGTGAGGATACAGAGAGATCTGGAAACCTTGCCTTGAGAGACGTAATCGAAAGAACCTAGGACACGTGCCCTGAAAATGAGACAAGGAAGACATGTGAGAACCATCTGCATGTTTGCAAAGTCTGTCGCTGGTACTGGAGTGGGCAATCTGTCATTTCAGAATGTTGGACTAAGGCCAGACACATAAATTACAAGAAGCAGATGTACATTTATTCACCAGATTTAAGACCAACTATACTT... |
Task1_train_10998 | The variant affects gene AGR2 (anterior gradient 2, protein disulphide isomerase family member), which is on Chromosome 7. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Respiratory infections, recurrent, and failure to thrive with or without diarrhea | CGAAGTGGTCTTTAAGGAAGCCAACCTGTGAAGAGGAAGGGCCGGAGGGCTCAAAAGGACATATGATTAGGTAGAGTCATTTTTTTGTTGGCTTGCTTTTAGAAGGAAAATGAAACATTTGTATACAGTAAAAAGAACTTGCCGAGACAGAAAGCTTGAGCACCGTGAGGGGTGGTAGTGGTGAAGTAAGGTGGGAATGCATGAAGCTAAAGCACAAGAGGCATGATTAGAGTTGGAAAGCCAGAGAGCTGTCTCTTCCCAAGAGATGACCAGGATTAAGAATGGGTGTAGAGAAGCCAGGACTATAGAGGGACAGGCAC... | CGAAGTGGTCTTTAAGGAAGCCAACCTGTGAAGAGGAAGGGCCGGAGGGCTCAAAAGGACATATGATTAGGTAGAGTCATTTTTTTGTTGGCTTGCTTTTAGAAGGAAAATGAAACATTTGTATACAGTAAAAAGAACTTGCCGAGACAGAAAGCTTGAGCACCGTGAGGGGTGGTAGTGGTGAAGTAAGGTGGGAATGCATGAAGCTAAAGCACAAGAGGCATGATTAGAGTTGGAAAGCCAGAGAGCTGTCTCTTCCCAAGAGATGACCAGGATTAAGAATGGGTGTAGAGAAGCCAGGACTATAGAGGGACAGGCAC... |
Task1_train_10999 | A mutation on Chromosome 7 affecting LOC129998021, TWIST1 (ATAC-STARR-seq lymphoblastoid active region 25682| twist family bHLH transcription factor 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; TWIST1-related craniosynostosis | GTAGTATTTAAAACTGTGATTATTCCAACTGTGATTATATCCAGTTACCAAGGATACTGAAAGTTCAGGATCTTCATTTTTGTATATTATTCCACAGCCTTATATTCTTTACACATAAAAAAAGAATGATGCTTCCCAAATAGCGTCAATATAGCGATATATTAACTTTTCTTTTTAGCAAACATGACACTAAACGTCATATTCATTCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATA... | GTAGTATTTAAAACTGTGATTATTCCAACTGTGATTATATCCAGTTACCAAGGATACTGAAAGTTCAGGATCTTCATTTTTGTATATTATTCCACAGCCTTATATTCTTTACACATAAAAAAAGAATGATGCTTCCCAAATAGCGTCAATATAGCGATATATTAACTTTTCTTTTTAGCAAACATGACACTAAACGTCATATTCATTCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATA... |
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