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_14500 | A genetic alteration is present in BAG3 (BAG cochaperone 3) on Chromosome 10. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Myofibrillar myopathy 6 | GGAGGCTGGGGTGGGAGGATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAACTGAGATCACACCACTGCACACTCCAGCCTGGGTGACAGAGCGAGGCTCCGTCTCAAAAACAAAAACAAAAACAAAAAGCGTCAAGATATTTTTGCTTTGAGCATAGCTCATTAAAAAATATATGGCTTACTAGGCGTGGTGGCTCACACCTATAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGATTGCTTGAGCTTAGAAATTCAAGACCAGCCTGGGCAGCATGGTGAAACCCTGTCTCTACAAAAAAATAGAAAAATTAGC... | GGAGGCTGGGGTGGGAGGATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAACTGAGATCACACCACTGCACACTCCAGCCTGGGTGACAGAGCGAGGCTCCGTCTCAAAAACAAAAACAAAAACAAAAAGCGTCAAGATATTTTTGCTTTGAGCATAGCTCATTAAAAAATATATGGCTTACTAGGCGTGGTGGCTCACACCTATAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGATTGCTTGAGCTTAGAAATTCAAGACCAGCCTGGGCAGCATGGTGAAACCCTGTCTCTACAAAAAAATAGAAAAATTAGC... |
Task1_train_14501 | A variant affecting Chromosome 10, within the gene BAG3 (BAG cochaperone 3), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Primary dilated cardiomyopathy | GGAGGCTGGGGTGGGAGGATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAACTGAGATCACACCACTGCACACTCCAGCCTGGGTGACAGAGCGAGGCTCCGTCTCAAAAACAAAAACAAAAACAAAAAGCGTCAAGATATTTTTGCTTTGAGCATAGCTCATTAAAAAATATATGGCTTACTAGGCGTGGTGGCTCACACCTATAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGATTGCTTGAGCTTAGAAATTCAAGACCAGCCTGGGCAGCATGGTGAAACCCTGTCTCTACAAAAAAATAGAAAAATTAGC... | GGAGGCTGGGGTGGGAGGATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAACTGAGATCACACCACTGCACACTCCAGCCTGGGTGACAGAGCGAGGCTCCGTCTCAAAAACAAAAACAAAAACAAAAAGCGTCAAGATATTTTTGCTTTGAGCATAGCTCATTAAAAAATATATGGCTTACTAGGCGTGGTGGCTCACACCTATAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGATTGCTTGAGCTTAGAAATTCAAGACCAGCCTGGGCAGCATGGTGAAACCCTGTCTCTACAAAAAAATAGAAAAATTAGC... |
Task1_train_14502 | A change on Chromosome 10 affects gene BAG3 (BAG cochaperone 3). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Cardiovascular phenotype | GGAGGCTGGGGTGGGAGGATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAACTGAGATCACACCACTGCACACTCCAGCCTGGGTGACAGAGCGAGGCTCCGTCTCAAAAACAAAAACAAAAACAAAAAGCGTCAAGATATTTTTGCTTTGAGCATAGCTCATTAAAAAATATATGGCTTACTAGGCGTGGTGGCTCACACCTATAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGATTGCTTGAGCTTAGAAATTCAAGACCAGCCTGGGCAGCATGGTGAAACCCTGTCTCTACAAAAAAATAGAAAAATTAGC... | GGAGGCTGGGGTGGGAGGATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAACTGAGATCACACCACTGCACACTCCAGCCTGGGTGACAGAGCGAGGCTCCGTCTCAAAAACAAAAACAAAAACAAAAAGCGTCAAGATATTTTTGCTTTGAGCATAGCTCATTAAAAAATATATGGCTTACTAGGCGTGGTGGCTCACACCTATAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGATTGCTTGAGCTTAGAAATTCAAGACCAGCCTGGGCAGCATGGTGAAACCCTGTCTCTACAAAAAAATAGAAAAATTAGC... |
Task1_train_14503 | A genomic change on Chromosome 10 affects BAG3 (BAG cochaperone 3). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Dilated cardiomyopathy 1HH | GGAGGCTGGGGTGGGAGGATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAACTGAGATCACACCACTGCACACTCCAGCCTGGGTGACAGAGCGAGGCTCCGTCTCAAAAACAAAAACAAAAACAAAAAGCGTCAAGATATTTTTGCTTTGAGCATAGCTCATTAAAAAATATATGGCTTACTAGGCGTGGTGGCTCACACCTATAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGATTGCTTGAGCTTAGAAATTCAAGACCAGCCTGGGCAGCATGGTGAAACCCTGTCTCTACAAAAAAATAGAAAAATTAGC... | GGAGGCTGGGGTGGGAGGATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAACTGAGATCACACCACTGCACACTCCAGCCTGGGTGACAGAGCGAGGCTCCGTCTCAAAAACAAAAACAAAAACAAAAAGCGTCAAGATATTTTTGCTTTGAGCATAGCTCATTAAAAAATATATGGCTTACTAGGCGTGGTGGCTCACACCTATAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGATTGCTTGAGCTTAGAAATTCAAGACCAGCCTGGGCAGCATGGTGAAACCCTGTCTCTACAAAAAAATAGAAAAATTAGC... |
Task1_train_14504 | A variant was discovered in gene BAG3 (BAG cochaperone 3), Chromosome 10. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Myofibrillar myopathy 6 | GGAGGCTGGGGTGGGAGGATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAACTGAGATCACACCACTGCACACTCCAGCCTGGGTGACAGAGCGAGGCTCCGTCTCAAAAACAAAAACAAAAACAAAAAGCGTCAAGATATTTTTGCTTTGAGCATAGCTCATTAAAAAATATATGGCTTACTAGGCGTGGTGGCTCACACCTATAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGATTGCTTGAGCTTAGAAATTCAAGACCAGCCTGGGCAGCATGGTGAAACCCTGTCTCTACAAAAAAATAGAAAAATTAGC... | GGAGGCTGGGGTGGGAGGATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAACTGAGATCACACCACTGCACACTCCAGCCTGGGTGACAGAGCGAGGCTCCGTCTCAAAAACAAAAACAAAAACAAAAAGCGTCAAGATATTTTTGCTTTGAGCATAGCTCATTAAAAAATATATGGCTTACTAGGCGTGGTGGCTCACACCTATAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGATTGCTTGAGCTTAGAAATTCAAGACCAGCCTGGGCAGCATGGTGAAACCCTGTCTCTACAAAAAAATAGAAAAATTAGC... |
Task1_train_14505 | This variant impacts the gene BAG3 (BAG cochaperone 3) on Chromosome 10. Is the change likely to result in a pathogenic outcome? | Pathogenic; Dilated cardiomyopathy 1HH | GCAGTGAACTGAGATCACACCACTGCACACTCCAGCCTGGGTGACAGAGCGAGGCTCCGTCTCAAAAACAAAAACAAAAACAAAAAGCGTCAAGATATTTTTGCTTTGAGCATAGCTCATTAAAAAATATATGGCTTACTAGGCGTGGTGGCTCACACCTATAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGATTGCTTGAGCTTAGAAATTCAAGACCAGCCTGGGCAGCATGGTGAAACCCTGTCTCTACAAAAAAATAGAAAAATTAGCCAGGCATGATGGTATGTGCCTGTAGTTGCAACTAATCATGAAGCT... | GCAGTGAACTGAGATCACACCACTGCACACTCCAGCCTGGGTGACAGAGCGAGGCTCCGTCTCAAAAACAAAAACAAAAACAAAAAGCGTCAAGATATTTTTGCTTTGAGCATAGCTCATTAAAAAATATATGGCTTACTAGGCGTGGTGGCTCACACCTATAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGATTGCTTGAGCTTAGAAATTCAAGACCAGCCTGGGCAGCATGGTGAAACCCTGTCTCTACAAAAAAATAGAAAAATTAGCCAGGCATGATGGTATGTGCCTGTAGTTGCAACTAATCATGAAGCT... |
Task1_train_14506 | This sequence change occurs on Chromosome 10, altering BAG3 (BAG cochaperone 3). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Myofibrillar myopathy 6 | GCAGTGAACTGAGATCACACCACTGCACACTCCAGCCTGGGTGACAGAGCGAGGCTCCGTCTCAAAAACAAAAACAAAAACAAAAAGCGTCAAGATATTTTTGCTTTGAGCATAGCTCATTAAAAAATATATGGCTTACTAGGCGTGGTGGCTCACACCTATAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGATTGCTTGAGCTTAGAAATTCAAGACCAGCCTGGGCAGCATGGTGAAACCCTGTCTCTACAAAAAAATAGAAAAATTAGCCAGGCATGATGGTATGTGCCTGTAGTTGCAACTAATCATGAAGCT... | GCAGTGAACTGAGATCACACCACTGCACACTCCAGCCTGGGTGACAGAGCGAGGCTCCGTCTCAAAAACAAAAACAAAAACAAAAAGCGTCAAGATATTTTTGCTTTGAGCATAGCTCATTAAAAAATATATGGCTTACTAGGCGTGGTGGCTCACACCTATAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGATTGCTTGAGCTTAGAAATTCAAGACCAGCCTGGGCAGCATGGTGAAACCCTGTCTCTACAAAAAAATAGAAAAATTAGCCAGGCATGATGGTATGTGCCTGTAGTTGCAACTAATCATGAAGCT... |
Task1_train_14507 | A genetic alteration is present in BAG3 (BAG cochaperone 3) on Chromosome 10. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Myofibrillar myopathy 6 | GCAGTGAACTGAGATCACACCACTGCACACTCCAGCCTGGGTGACAGAGCGAGGCTCCGTCTCAAAAACAAAAACAAAAACAAAAAGCGTCAAGATATTTTTGCTTTGAGCATAGCTCATTAAAAAATATATGGCTTACTAGGCGTGGTGGCTCACACCTATAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGATTGCTTGAGCTTAGAAATTCAAGACCAGCCTGGGCAGCATGGTGAAACCCTGTCTCTACAAAAAAATAGAAAAATTAGCCAGGCATGATGGTATGTGCCTGTAGTTGCAACTAATCATGAAGCT... | GCAGTGAACTGAGATCACACCACTGCACACTCCAGCCTGGGTGACAGAGCGAGGCTCCGTCTCAAAAACAAAAACAAAAACAAAAAGCGTCAAGATATTTTTGCTTTGAGCATAGCTCATTAAAAAATATATGGCTTACTAGGCGTGGTGGCTCACACCTATAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGATTGCTTGAGCTTAGAAATTCAAGACCAGCCTGGGCAGCATGGTGAAACCCTGTCTCTACAAAAAAATAGAAAAATTAGCCAGGCATGATGGTATGTGCCTGTAGTTGCAACTAATCATGAAGCT... |
Task1_train_14508 | A mutation in WDR11 (WD repeat domain 11), located on Chromosome 10, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hypogonadotropic hypogonadism 14 with anosmia | TCCTGCAAGTCAACAGTGAAAAAAAGCGGGAACCCTAGTGAGAAAATGAACAAAGTCTGTGAAGAGCTAATGAGAGGCAGAGAAACCTAAAAGGCCAACAAGCCATATAAAGGAATGTTCAAACTCATCAGTTTTCAGAGATGTTCAAACCATGATATGGATCTACCGTTTAGACTAACAAAAACTGGACAGCCATATAGTGTTAAGTACGGGTGGAACATAGGGTATGGGAATCCTTGTGCATTGCTGGTAGGAATGTAGACCAATGCAGCCATTCTGTAAAGCACGCTGGCAGCACTTGGGCAAACACAGACATCTTC... | TCCTGCAAGTCAACAGTGAAAAAAAGCGGGAACCCTAGTGAGAAAATGAACAAAGTCTGTGAAGAGCTAATGAGAGGCAGAGAAACCTAAAAGGCCAACAAGCCATATAAAGGAATGTTCAAACTCATCAGTTTTCAGAGATGTTCAAACCATGATATGGATCTACCGTTTAGACTAACAAAAACTGGACAGCCATATAGTGTTAAGTACGGGTGGAACATAGGGTATGGGAATCCTTGTGCATTGCTGGTAGGAATGTAGACCAATGCAGCCATTCTGTAAAGCACGCTGGCAGCACTTGGGCAAACACAGACATCTTC... |
Task1_train_14509 | Here is a mutation in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; FGFR2-related craniosynostosis | CTGTGTGGCTGGCGGAACATCTGCTGCACAGAGGCTCTGGAACTTACTAAGATCGCAAAGGCAATCAGCACTGGGCTGGGGTTAGGATGAGGAATCACATGCCCCAGATGAGTTGCACACAACAAAACTGAACACATCTCACAGGCCATAATTTATTTACACTTGACTCTTCAGAGATTTGGACTTCCTGTGCCAAGTTCAGGAGGCTCAATCTCTGGGAGGAGCAAGCTGAGAGAGCCAGGTTTAGCTACATCATGGTCGTTCTGGAAACTCAACCTTCTGTACTCGATGGTGGTGTTTCACTCCGCAGTTTTCTACAG... | CTGTGTGGCTGGCGGAACATCTGCTGCACAGAGGCTCTGGAACTTACTAAGATCGCAAAGGCAATCAGCACTGGGCTGGGGTTAGGATGAGGAATCACATGCCCCAGATGAGTTGCACACAACAAAACTGAACACATCTCACAGGCCATAATTTATTTACACTTGACTCTTCAGAGATTTGGACTTCCTGTGCCAAGTTCAGGAGGCTCAATCTCTGGGAGGAGCAAGCTGAGAGAGCCAGGTTTAGCTACATCATGGTCGTTCTGGAAACTCAACCTTCTGTACTCGATGGTGGTGTTTCACTCCGCAGTTTTCTACAG... |
Task1_train_14510 | Given this context: Chromosome 10, gene FGFR2 (fibroblast growth factor receptor 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; FGFR2-related disorder | CTGTGTGGCTGGCGGAACATCTGCTGCACAGAGGCTCTGGAACTTACTAAGATCGCAAAGGCAATCAGCACTGGGCTGGGGTTAGGATGAGGAATCACATGCCCCAGATGAGTTGCACACAACAAAACTGAACACATCTCACAGGCCATAATTTATTTACACTTGACTCTTCAGAGATTTGGACTTCCTGTGCCAAGTTCAGGAGGCTCAATCTCTGGGAGGAGCAAGCTGAGAGAGCCAGGTTTAGCTACATCATGGTCGTTCTGGAAACTCAACCTTCTGTACTCGATGGTGGTGTTTCACTCCGCAGTTTTCTACAG... | CTGTGTGGCTGGCGGAACATCTGCTGCACAGAGGCTCTGGAACTTACTAAGATCGCAAAGGCAATCAGCACTGGGCTGGGGTTAGGATGAGGAATCACATGCCCCAGATGAGTTGCACACAACAAAACTGAACACATCTCACAGGCCATAATTTATTTACACTTGACTCTTCAGAGATTTGGACTTCCTGTGCCAAGTTCAGGAGGCTCAATCTCTGGGAGGAGCAAGCTGAGAGAGCCAGGTTTAGCTACATCATGGTCGTTCTGGAAACTCAACCTTCTGTACTCGATGGTGGTGTTTCACTCCGCAGTTTTCTACAG... |
Task1_train_14511 | This variant affects gene FGFR2 (fibroblast growth factor receptor 2) located on Chromosome 10. Evaluate its biological effect and specify any disease association. | Pathogenic; FGFR2-related craniosynostosis | CTGTGTGGCTGGCGGAACATCTGCTGCACAGAGGCTCTGGAACTTACTAAGATCGCAAAGGCAATCAGCACTGGGCTGGGGTTAGGATGAGGAATCACATGCCCCAGATGAGTTGCACACAACAAAACTGAACACATCTCACAGGCCATAATTTATTTACACTTGACTCTTCAGAGATTTGGACTTCCTGTGCCAAGTTCAGGAGGCTCAATCTCTGGGAGGAGCAAGCTGAGAGAGCCAGGTTTAGCTACATCATGGTCGTTCTGGAAACTCAACCTTCTGTACTCGATGGTGGTGTTTCACTCCGCAGTTTTCTACAG... | CTGTGTGGCTGGCGGAACATCTGCTGCACAGAGGCTCTGGAACTTACTAAGATCGCAAAGGCAATCAGCACTGGGCTGGGGTTAGGATGAGGAATCACATGCCCCAGATGAGTTGCACACAACAAAACTGAACACATCTCACAGGCCATAATTTATTTACACTTGACTCTTCAGAGATTTGGACTTCCTGTGCCAAGTTCAGGAGGCTCAATCTCTGGGAGGAGCAAGCTGAGAGAGCCAGGTTTAGCTACATCATGGTCGTTCTGGAAACTCAACCTTCTGTACTCGATGGTGGTGTTTCACTCCGCAGTTTTCTACAG... |
Task1_train_14512 | A variant was discovered in gene FGFR2 (fibroblast growth factor receptor 2), Chromosome 10. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Levy-Hollister syndrome | TCTGGAACTTACTAAGATCGCAAAGGCAATCAGCACTGGGCTGGGGTTAGGATGAGGAATCACATGCCCCAGATGAGTTGCACACAACAAAACTGAACACATCTCACAGGCCATAATTTATTTACACTTGACTCTTCAGAGATTTGGACTTCCTGTGCCAAGTTCAGGAGGCTCAATCTCTGGGAGGAGCAAGCTGAGAGAGCCAGGTTTAGCTACATCATGGTCGTTCTGGAAACTCAACCTTCTGTACTCGATGGTGGTGTTTCACTCCGCAGTTTTCTACAGAGCAAAAGCAGCAGCACAGGACAGGCAGAACAGCC... | TCTGGAACTTACTAAGATCGCAAAGGCAATCAGCACTGGGCTGGGGTTAGGATGAGGAATCACATGCCCCAGATGAGTTGCACACAACAAAACTGAACACATCTCACAGGCCATAATTTATTTACACTTGACTCTTCAGAGATTTGGACTTCCTGTGCCAAGTTCAGGAGGCTCAATCTCTGGGAGGAGCAAGCTGAGAGAGCCAGGTTTAGCTACATCATGGTCGTTCTGGAAACTCAACCTTCTGTACTCGATGGTGGTGTTTCACTCCGCAGTTTTCTACAGAGCAAAAGCAGCAGCACAGGACAGGCAGAACAGCC... |
Task1_train_14513 | Gene FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; FGFR2-related craniosynostosis | TCTGGAACTTACTAAGATCGCAAAGGCAATCAGCACTGGGCTGGGGTTAGGATGAGGAATCACATGCCCCAGATGAGTTGCACACAACAAAACTGAACACATCTCACAGGCCATAATTTATTTACACTTGACTCTTCAGAGATTTGGACTTCCTGTGCCAAGTTCAGGAGGCTCAATCTCTGGGAGGAGCAAGCTGAGAGAGCCAGGTTTAGCTACATCATGGTCGTTCTGGAAACTCAACCTTCTGTACTCGATGGTGGTGTTTCACTCCGCAGTTTTCTACAGAGCAAAAGCAGCAGCACAGGACAGGCAGAACAGCC... | TCTGGAACTTACTAAGATCGCAAAGGCAATCAGCACTGGGCTGGGGTTAGGATGAGGAATCACATGCCCCAGATGAGTTGCACACAACAAAACTGAACACATCTCACAGGCCATAATTTATTTACACTTGACTCTTCAGAGATTTGGACTTCCTGTGCCAAGTTCAGGAGGCTCAATCTCTGGGAGGAGCAAGCTGAGAGAGCCAGGTTTAGCTACATCATGGTCGTTCTGGAAACTCAACCTTCTGTACTCGATGGTGGTGTTTCACTCCGCAGTTTTCTACAGAGCAAAAGCAGCAGCACAGGACAGGCAGAACAGCC... |
Task1_train_14514 | The following genetic variant occurs in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | CACATGCCCCAGATGAGTTGCACACAACAAAACTGAACACATCTCACAGGCCATAATTTATTTACACTTGACTCTTCAGAGATTTGGACTTCCTGTGCCAAGTTCAGGAGGCTCAATCTCTGGGAGGAGCAAGCTGAGAGAGCCAGGTTTAGCTACATCATGGTCGTTCTGGAAACTCAACCTTCTGTACTCGATGGTGGTGTTTCACTCCGCAGTTTTCTACAGAGCAAAAGCAGCAGCACAGGACAGGCAGAACAGCCTCTGTGCCTCAGTTGCTCACAGCAAAAATGGGATAGTCATGTCTTTTTTTTAGGATTGTT... | CACATGCCCCAGATGAGTTGCACACAACAAAACTGAACACATCTCACAGGCCATAATTTATTTACACTTGACTCTTCAGAGATTTGGACTTCCTGTGCCAAGTTCAGGAGGCTCAATCTCTGGGAGGAGCAAGCTGAGAGAGCCAGGTTTAGCTACATCATGGTCGTTCTGGAAACTCAACCTTCTGTACTCGATGGTGGTGTTTCACTCCGCAGTTTTCTACAGAGCAAAAGCAGCAGCACAGGACAGGCAGAACAGCCTCTGTGCCTCAGTTGCTCACAGCAAAAATGGGATAGTCATGTCTTTTTTTTAGGATTGTT... |
Task1_train_14515 | A mutation in FGFR2 (fibroblast growth factor receptor 2), located on Chromosome 10, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | TTCTTTAAAGACATTTTTAGTTGGATTCCACCCAGCCAAGTAGAATGTGAAAGACTCACTTTTTGGGAAGCCAAGTACTCCATGCCTCTGGCCAGCTGGTAGGTGCATGACACCAAGTCCTTGAAGGTCATCTGCTCCTCAGGAACACGGTTAATGTCATAGGAGTACTCCATCCCGGGTGGCCTCCGGGCTCGGAGGTATTCTCGGAGGTTGCCTTTAGAGGCATACTCAACTATGACATAGAGAGGCCCTGTTGAGGAAGAAGAGAAGCTCCCTAAAGAGAGAATCCAGGGTCTCCCCTTGGGCAATTCAGCAAAACA... | TTCTTTAAAGACATTTTTAGTTGGATTCCACCCAGCCAAGTAGAATGTGAAAGACTCACTTTTTGGGAAGCCAAGTACTCCATGCCTCTGGCCAGCTGGTAGGTGCATGACACCAAGTCCTTGAAGGTCATCTGCTCCTCAGGAACACGGTTAATGTCATAGGAGTACTCCATCCCGGGTGGCCTCCGGGCTCGGAGGTATTCTCGGAGGTTGCCTTTAGAGGCATACTCAACTATGACATAGAGAGGCCCTGTTGAGGAAGAAGAGAAGCTCCCTAAAGAGAGAATCCAGGGTCTCCCCTTGGGCAATTCAGCAAAACA... |
Task1_train_14516 | This sequence change occurs on Chromosome 10, altering FGFR2 (fibroblast growth factor receptor 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; FGFR2-related craniosynostosis | CCAAGTACTCCATGCCTCTGGCCAGCTGGTAGGTGCATGACACCAAGTCCTTGAAGGTCATCTGCTCCTCAGGAACACGGTTAATGTCATAGGAGTACTCCATCCCGGGTGGCCTCCGGGCTCGGAGGTATTCTCGGAGGTTGCCTTTAGAGGCATACTCAACTATGACATAGAGAGGCCCTGTTGAGGAAGAAGAGAAGCTCCCTAAAGAGAGAATCCAGGGTCTCCCCTTGGGCAATTCAGCAAAACATTTTTAGTTATTACAACCCATGCTTTTTTTTTTTTTTTTAAAGTTTAACATACAGCGGCTGGGCGTGGTG... | CCAAGTACTCCATGCCTCTGGCCAGCTGGTAGGTGCATGACACCAAGTCCTTGAAGGTCATCTGCTCCTCAGGAACACGGTTAATGTCATAGGAGTACTCCATCCCGGGTGGCCTCCGGGCTCGGAGGTATTCTCGGAGGTTGCCTTTAGAGGCATACTCAACTATGACATAGAGAGGCCCTGTTGAGGAAGAAGAGAAGCTCCCTAAAGAGAGAATCCAGGGTCTCCCCTTGGGCAATTCAGCAAAACATTTTTAGTTATTACAACCCATGCTTTTTTTTTTTTTTTTAAAGTTTAACATACAGCGGCTGGGCGTGGTG... |
Task1_train_14517 | Assess the clinical impact of this variant on gene FGFR2 (fibroblast growth factor receptor 2), found on Chromosome 10. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Pfeiffer syndrome | CCAAGTACTCCATGCCTCTGGCCAGCTGGTAGGTGCATGACACCAAGTCCTTGAAGGTCATCTGCTCCTCAGGAACACGGTTAATGTCATAGGAGTACTCCATCCCGGGTGGCCTCCGGGCTCGGAGGTATTCTCGGAGGTTGCCTTTAGAGGCATACTCAACTATGACATAGAGAGGCCCTGTTGAGGAAGAAGAGAAGCTCCCTAAAGAGAGAATCCAGGGTCTCCCCTTGGGCAATTCAGCAAAACATTTTTAGTTATTACAACCCATGCTTTTTTTTTTTTTTTTAAAGTTTAACATACAGCGGCTGGGCGTGGTG... | CCAAGTACTCCATGCCTCTGGCCAGCTGGTAGGTGCATGACACCAAGTCCTTGAAGGTCATCTGCTCCTCAGGAACACGGTTAATGTCATAGGAGTACTCCATCCCGGGTGGCCTCCGGGCTCGGAGGTATTCTCGGAGGTTGCCTTTAGAGGCATACTCAACTATGACATAGAGAGGCCCTGTTGAGGAAGAAGAGAAGCTCCCTAAAGAGAGAATCCAGGGTCTCCCCTTGGGCAATTCAGCAAAACATTTTTAGTTATTACAACCCATGCTTTTTTTTTTTTTTTTAAAGTTTAACATACAGCGGCTGGGCGTGGTG... |
Task1_train_14518 | This sequence change occurs on Chromosome 10, altering FGFR2 (fibroblast growth factor receptor 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Levy-Hollister syndrome | TGTCAAAGAGCTCACTGGGGGGCCAATGGGGCCAAGAGTCAGGACGAGAGCAGGGGCTTCTGACACTAATGCCAATTCTTTCCTAGACCATGAGATAATCTCATCCTCTGCCATATCTAAGGCGTCTCAGAAAACCACACCAAACTTCATGGTGCCTGAAACCAGCGAGGAGACCGAGGGTAGGGCCATTTCAAATCACTACAGACTTGCTCCCGACCAAGCATTCTTAACCCAGCCCCTCGAGGCCCTTAGAGCGTTCCGAGGTGGGTTCAGACGGTTCCCCATAAACAGGGCCATAAACGTGTGTGCATGTGCATTCT... | TGTCAAAGAGCTCACTGGGGGGCCAATGGGGCCAAGAGTCAGGACGAGAGCAGGGGCTTCTGACACTAATGCCAATTCTTTCCTAGACCATGAGATAATCTCATCCTCTGCCATATCTAAGGCGTCTCAGAAAACCACACCAAACTTCATGGTGCCTGAAACCAGCGAGGAGACCGAGGGTAGGGCCATTTCAAATCACTACAGACTTGCTCCCGACCAAGCATTCTTAACCCAGCCCCTCGAGGCCCTTAGAGCGTTCCGAGGTGGGTTCAGACGGTTCCCCATAAACAGGGCCATAAACGTGTGTGCATGTGCATTCT... |
Task1_train_14519 | This variant affects gene FGFR2 (fibroblast growth factor receptor 2) located on Chromosome 10. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | CTCTTAAAGAAAAAATATAAATGGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTA... | CTCTTAAAGAAAAAATATAAATGGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTA... |
Task1_train_14520 | Given a variant located on Chromosome 10 and affecting FGFR2 (fibroblast growth factor receptor 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Acrocephalosyndactyly type I | GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGC... | GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGC... |
Task1_train_14521 | With a mutation on Chromosome 10 in gene FGFR2 (fibroblast growth factor receptor 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Familial scaphocephaly syndrome, McGillivray type | GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGC... | GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGC... |
Task1_train_14522 | This sequence change occurs on Chromosome 10, altering FGFR2 (fibroblast growth factor receptor 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Jackson-Weiss syndrome | GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGC... | GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGC... |
Task1_train_14523 | Given this context: Chromosome 10, gene FGFR2 (fibroblast growth factor receptor 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Levy-Hollister syndrome | GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGC... | GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGC... |
Task1_train_14524 | The gene FGFR2 (fibroblast growth factor receptor 2) is located on Chromosome 10, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGC... | GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGC... |
Task1_train_14525 | This genomic variant is located on Chromosome 10, within the FGFR2 (fibroblast growth factor receptor 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Beare-Stevenson cutis gyrata syndrome | GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGC... | GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGC... |
Task1_train_14526 | A genetic alteration is present in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Crouzon syndrome | GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGC... | GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGC... |
Task1_train_14527 | Chromosome 10 houses a mutation in gene FGFR2 (fibroblast growth factor receptor 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Bent bone dysplasia syndrome 1 | GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGC... | GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGC... |
Task1_train_14528 | Here is a genetic alteration in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Pfeiffer syndrome | GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGC... | GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGC... |
Task1_train_14529 | Here is a variant affecting FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Saethre-Chotzen syndrome | GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGC... | GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGC... |
Task1_train_14530 | Given this variant in gene FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Neoplasm of stomach | GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGC... | GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGC... |
Task1_train_14531 | Gene FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; FGFR2-related craniosynostosis | GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGC... | GGTATTGCATGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGC... |
Task1_train_14532 | Here is a mutation in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Bent bone dysplasia syndrome 1 | TGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGCCAAATTACA... | TGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGCCAAATTACA... |
Task1_train_14533 | Here is a variant affecting FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Inborn genetic diseases | TGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGCCAAATTACA... | TGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGCCAAATTACA... |
Task1_train_14534 | This variant affects gene FGFR2 (fibroblast growth factor receptor 2) located on Chromosome 10. Evaluate its biological effect and specify any disease association. | Pathogenic; FGFR2-related disorder | TGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGCCAAATTACA... | TGTGAGTATACATATAATTACTTAATTTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGCCAAATTACA... |
Task1_train_14535 | This genomic variant is located on Chromosome 10, within the FGFR2 (fibroblast growth factor receptor 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; FGFR2-related craniosynostosis | TTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGCCAAATTACAAGTTGCCTCCAGAAGTTACCATTTTT... | TTAGAACATTCTTATGTCAACTTCCAATGTCTGCCCTCTTCTTAGTCCTCAAGGATCCATCCACAAGCAGTATATTTCCAAATACTATTTTTCTCAAACTGTATTCTTAGATGGACAGTGAAGAAAAGCCAGCTGGCACTGGGGAAAGAAAACACGATGACTGTGGCTGAGTCAGGGGGATTTTAAGGGCATCTTACCCTTCTATATTAAGTAAAAAGAAAAGCATTTTAACAGTTGCAGAAAAAAAGATGATGAGATAATTAAGGGGCAGTGGCCTAGCTATGCCAAATTACAAGTTGCCTCCAGAAGTTACCATTTTT... |
Task1_train_14536 | This alteration in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; FGFR2-related craniosynostosis | TAGTCTGGGGAAGCTGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGT... | TAGTCTGGGGAAGCTGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGT... |
Task1_train_14537 | Gene FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; FGFR2-related craniosynostosis | TGGGGAAGCTGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGAC... | TGGGGAAGCTGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGAC... |
Task1_train_14538 | Given a variant located on Chromosome 10 and affecting FGFR2 (fibroblast growth factor receptor 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Acrocephalosyndactyly type I | TGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTG... | TGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTG... |
Task1_train_14539 | A change on Chromosome 10 affects gene FGFR2 (fibroblast growth factor receptor 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; FGFR2-related craniosynostosis | TGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTG... | TGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTG... |
Task1_train_14540 | Mutation context: Chromosome 10, Gene FGFR2 (fibroblast growth factor receptor 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Crouzon syndrome | TGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTG... | TGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTG... |
Task1_train_14541 | The gene FGFR2 (fibroblast growth factor receptor 2) is located on Chromosome 10, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; See cases | TGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTG... | TGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTG... |
Task1_train_14542 | Here is a genetic alteration in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Inborn genetic diseases | TGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTG... | TGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTG... |
Task1_train_14543 | A mutation in FGFR2 (fibroblast growth factor receptor 2), located on Chromosome 10, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; FGFR2-related craniosynostosis | TGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTG... | TGTAATCTCCTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTG... |
Task1_train_14544 | Gene FGFR2 (fibroblast growth factor receptor 2), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Pfeiffer syndrome | CTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGAC... | CTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGAC... |
Task1_train_14545 | This is a variant in FGFR2 (fibroblast growth factor receptor 2), located on Chromosome 10. Is this mutation a likely cause of disease or not? | Pathogenic; Crouzon syndrome | CTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGAC... | CTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGAC... |
Task1_train_14546 | This mutation is located in gene FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; FGFR2-related craniosynostosis | CTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGAC... | CTTTTCTCTTCCAGGCGCTAGATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGAC... |
Task1_train_14547 | This variant impacts the gene FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Is the change likely to result in a pathogenic outcome? | Pathogenic; Pfeiffer syndrome | ATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAG... | ATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAG... |
Task1_train_14548 | Located on Chromosome 10, this mutation impacts FGFR2 (fibroblast growth factor receptor 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; FGFR2-related craniosynostosis | ATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAG... | ATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAG... |
Task1_train_14549 | The gene FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; FGFR2-related disorder | ATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAG... | ATTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAG... |
Task1_train_14550 | Gene FGFR2 (fibroblast growth factor receptor 2), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; FGFR2-related craniosynostosis | TTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGG... | TTGCAGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGG... |
Task1_train_14551 | This sequence change occurs on Chromosome 10, altering FGFR2 (fibroblast growth factor receptor 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; FGFR2-related craniosynostosis | AGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTA... | AGATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTA... |
Task1_train_14552 | The gene FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Jackson-Weiss syndrome | GATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTAT... | GATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTAT... |
Task1_train_14553 | Here is a mutation in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; FGFR2-related craniosynostosis | GATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTAT... | GATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTAT... |
Task1_train_14554 | Here’s a variant in FGFR2 (fibroblast growth factor receptor 2) located on Chromosome 10. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; FGFR2-related craniosynostosis | GATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTAT... | GATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTAT... |
Task1_train_14555 | A variant was discovered in gene FGFR2 (fibroblast growth factor receptor 2), Chromosome 10. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Crouzon syndrome | GATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTAT... | GATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTAT... |
Task1_train_14556 | A mutation in FGFR2 (fibroblast growth factor receptor 2), located on Chromosome 10, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Pfeiffer syndrome | GATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTAT... | GATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTAT... |
Task1_train_14557 | Given this variant in gene FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Jackson-Weiss syndrome | GATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTAT... | GATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTAT... |
Task1_train_14558 | This mutation occurs in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Pfeiffer syndrome | ATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATC... | ATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATC... |
Task1_train_14559 | The variant affects gene FGFR2 (fibroblast growth factor receptor 2), which is on Chromosome 10. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; FGFR2-related syndromic and non-syndromic craniosynostoses | ATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATC... | ATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATC... |
Task1_train_14560 | A variant found in Chromosome 10 affects FGFR2 (fibroblast growth factor receptor 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; FGFR2-related craniosynostosis | ATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATC... | ATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATC... |
Task1_train_14561 | The gene FGFR2 (fibroblast growth factor receptor 2), on Chromosome 10, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Pfeiffer syndrome | ATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATC... | ATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATC... |
Task1_train_14562 | Given this context: Chromosome 10, gene FGFR2 (fibroblast growth factor receptor 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | ATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATC... | ATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATC... |
Task1_train_14563 | Here is a mutation in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Crouzon syndrome | ATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATC... | ATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATC... |
Task1_train_14564 | A change on Chromosome 10 affects gene FGFR2 (fibroblast growth factor receptor 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; FGFR2-related craniosynostosis | ATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATC... | ATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATC... |
Task1_train_14565 | Here is a genetic alteration in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; FGFR2-related craniosynostosis | ATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATC... | ATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATC... |
Task1_train_14566 | Given this context: Chromosome 10, gene FGFR2 (fibroblast growth factor receptor 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Pfeiffer syndrome | ATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATC... | ATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATC... |
Task1_train_14567 | Here is a variant affecting FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Crouzon syndrome | ATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATC... | ATCACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATC... |
Task1_train_14568 | A change on Chromosome 10 affects gene FGFR2 (fibroblast growth factor receptor 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; FGFR2-related craniosynostosis | ACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTT... | ACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTT... |
Task1_train_14569 | Here is a genetic alteration in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Pfeiffer syndrome | ACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTT... | ACAGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTT... |
Task1_train_14570 | A variant has been detected on Chromosome 10 in FGFR2 (fibroblast growth factor receptor 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; FGFR2-related craniosynostosis | AGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCA... | AGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCA... |
Task1_train_14571 | An alteration has been detected in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Pfeiffer syndrome | AGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCA... | AGGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCA... |
Task1_train_14572 | Here’s a variant in FGFR2 (fibroblast growth factor receptor 2) located on Chromosome 10. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Crouzon syndrome | GGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCAT... | GGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCAT... |
Task1_train_14573 | With a mutation on Chromosome 10 in gene FGFR2 (fibroblast growth factor receptor 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; FGFR2-related craniosynostosis | GGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCAT... | GGAGGAGGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCAT... |
Task1_train_14574 | This variant affects the gene FGFR2 (fibroblast growth factor receptor 2) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; FGFR2-related craniosynostosis | GGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGT... | GGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGT... |
Task1_train_14575 | Here is a variant affecting FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Crouzon syndrome | GGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGT... | GGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGT... |
Task1_train_14576 | This mutation occurs in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Does this change lead to a known medical condition, or is it benign? | Pathogenic; FGFR2-related craniosynostosis | GGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGT... | GGAACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGT... |
Task1_train_14577 | The following genetic variant occurs in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Crouzon syndrome | ACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTG... | ACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTG... |
Task1_train_14578 | Gene FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; FGFR2-related craniosynostosis | ACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTG... | ACAGATAAGCAGGCCATAGAGTTAGCACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTG... |
Task1_train_14579 | A genetic alteration is present in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; FGFR2-related craniosynostosis | ACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCT... | ACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCT... |
Task1_train_14580 | The following genetic variant occurs in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Crouzon syndrome | ACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCT... | ACACCAGACTGACGCATCATAGCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCT... |
Task1_train_14581 | A mutation on Chromosome 10 affecting FGFR2 (fibroblast growth factor receptor 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; FGFR2-related craniosynostosis | GCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACT... | GCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACT... |
Task1_train_14582 | Consider this mutation in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10. Is this a benign change or a disease-causing variant? | Pathogenic; FGFR2-related craniosynostosis | GCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACT... | GCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACT... |
Task1_train_14583 | This alteration occurs within gene FGFR2 (fibroblast growth factor receptor 2) located on Chromosome 10. Is it associated with a disease or is it a benign variant? | Pathogenic; Pfeiffer syndrome | GCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACT... | GCACAACCAAAGGAACCAAAAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACT... |
Task1_train_14584 | Located on Chromosome 10, this mutation impacts FGFR2 (fibroblast growth factor receptor 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; FGFR2-related craniosynostosis | AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAG... | AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAG... |
Task1_train_14585 | Mutation context: Chromosome 10, Gene FGFR2 (fibroblast growth factor receptor 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Crouzon syndrome | AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAG... | AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAG... |
Task1_train_14586 | The variant affects gene FGFR2 (fibroblast growth factor receptor 2), which is on Chromosome 10. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Gastric cancer | AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAG... | AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAG... |
Task1_train_14587 | This variant affects gene FGFR2 (fibroblast growth factor receptor 2) located on Chromosome 10. Evaluate its biological effect and specify any disease association. | Pathogenic; Familial scaphocephaly syndrome, McGillivray type | AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAG... | AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAG... |
Task1_train_14588 | A genomic change on Chromosome 10 affects FGFR2 (fibroblast growth factor receptor 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Crouzon syndrome | AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAG... | AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAG... |
Task1_train_14589 | A mutation in FGFR2 (fibroblast growth factor receptor 2), located on Chromosome 10, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Jackson-Weiss syndrome | AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAG... | AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAG... |
Task1_train_14590 | Assess the clinical impact of this variant on gene FGFR2 (fibroblast growth factor receptor 2), found on Chromosome 10. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Bent bone dysplasia syndrome 1 | AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAG... | AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAG... |
Task1_train_14591 | This is a variant in FGFR2 (fibroblast growth factor receptor 2), located on Chromosome 10. Is this mutation a likely cause of disease or not? | Pathogenic; Saethre-Chotzen syndrome | AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAG... | AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAG... |
Task1_train_14592 | The gene FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Pfeiffer syndrome | AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAG... | AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAG... |
Task1_train_14593 | A mutation on Chromosome 10 affecting FGFR2 (fibroblast growth factor receptor 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Beare-Stevenson cutis gyrata syndrome | AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAG... | AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAG... |
Task1_train_14594 | This variant affects the gene FGFR2 (fibroblast growth factor receptor 2) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAG... | AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAG... |
Task1_train_14595 | Given this context: Chromosome 10, gene FGFR2 (fibroblast growth factor receptor 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Levy-Hollister syndrome | AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAG... | AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAG... |
Task1_train_14596 | The gene FGFR2 (fibroblast growth factor receptor 2), on Chromosome 10, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Acrocephalosyndactyly type I | AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAG... | AAGGCGACGACCATTCTCAAGGCAAGGTGGGCTTCCCAAAAACTCCCAAATGAAAATGAATAACCAGGGGTCCATCATTTGACCACCAGGACCCAGGTAGTCACTGTCACTAGCCTCAGTGGGCACCTGCAATCCAGTGAGTGGTTGACACCCAGTTGCACAGGGCAGGCTATGAGGCCACATTTTGTTAGACATTTCAGTGGAGGACGACCAACTGTACCCACAATGAAAGGATTATCTTTCATGATCGTCTGTGAATGCAAACCAAATAAAAAATTCTGAAATATCAACGATGCCCACTTTTGTTTCTAAGGAGACAG... |
Task1_train_14597 | A mutation in FGFR2 (fibroblast growth factor receptor 2), located on Chromosome 10, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Crouzon syndrome | TGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGC... | TGGAAGGTTGTCTTGGTTACCAGGCTCTGGTTATTTTTACTTCTGCGATACCATCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGC... |
Task1_train_14598 | A mutation found in FGFR2 (fibroblast growth factor receptor 2) on Chromosome 10 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Saethre-Chotzen syndrome | TCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTG... | TCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTG... |
Task1_train_14599 | A change on Chromosome 10 affects gene FGFR2 (fibroblast growth factor receptor 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Familial scaphocephaly syndrome, McGillivray type | TCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTG... | TCTTGCCCTACATAGCATTGACAAAAAGAAATGGAAGCAAGCATCATCTTGGTAACCAAAAAAACTGGGCTTTTTCTCTTTTCATTAATAAACATTTGGATGTGAGTCATGACAAACCTAAAAAGTCAACCTTTTGCCTTTAGTAGCGTCCAGTAGTACATTCATTAAGATGAGCTCCCCTCAAATTTGGTGCAACAAGGTCAAGAACAGCAACTCATAAGGATCAACCATGCAACCAAAGAAATGATGCTTTGTTGAACAAATTGCATCTTGCCAATATTTCCCTAAAAACTTGAAGTAGAAGGAGACAAACTCTGCTG... |
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