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_18900 | Given this context: Chromosome 12, gene DHX37 (DEAH-box helicase 37) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; 46,XY sex reversal 11 | GATCTGTACAGCAAAATATTGAGGATAAAATAAGATACCTAAGATTTGCTTCTAAACAGTGGGGGGGAGGGGGGCCAGGAGGAGAGTACAGATCCAACAGGCTAGGGCAAGAGTTGACAATTATTACAACTGGGTCTTGGGTACCTGGGGGCTCATTATACTATCCTTTCTACTTATGTATATGCGCCCCCCCCAACGCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTTGTTGCCCAGGCTGAAGTGCAATGGCGTGATCTCGGCTCATGGCAACCTCCGCCTCTCGGGTTCAAGGGATTCTTCTGCCTCA... | GATCTGTACAGCAAAATATTGAGGATAAAATAAGATACCTAAGATTTGCTTCTAAACAGTGGGGGGGAGGGGGGCCAGGAGGAGAGTACAGATCCAACAGGCTAGGGCAAGAGTTGACAATTATTACAACTGGGTCTTGGGTACCTGGGGGCTCATTATACTATCCTTTCTACTTATGTATATGCGCCCCCCCCAACGCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTTGTTGCCCAGGCTGAAGTGCAATGGCGTGATCTCGGCTCATGGCAACCTCCGCCTCTCGGGTTCAAGGGATTCTTCTGCCTCA... |
Task1_train_18901 | Here is a mutation in LOC132090059, PUS1 (Neanderthal introgressed variant-containing enhancer experimental_25941| pseudouridine synthase 1) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Myopathy, lactic acidosis, and sideroblastic anemia 1 | TCCGGCAGGATTTAGGTGCAGGCCCAAGCAGCTTTCACTGCTCCTGCTGCACGCGAGCTCCTGCTGCTTTCCATCAGGCCCGGCCCTGCCGCTAACCGCTGTTATCTGGGGCGGGGTTCACTTGCTGGGTGCCTGAGTCCTCATCTTTAGGATGGGAGTGCTCACAGCACCTGCTAAGTAGAGTGTGAAGATGAGCTAGGTGTACTGACGCTCGGTGCTGAGAACAGTGGACAGCTCGGGGCAGCTCAGAAGAGCCTGCTGTCGTGAGCGTTAAGGGGACAGAGAGCTAAGTATTAAAGTTGTGAGGATTCTCTCCTCAG... | TCCGGCAGGATTTAGGTGCAGGCCCAAGCAGCTTTCACTGCTCCTGCTGCACGCGAGCTCCTGCTGCTTTCCATCAGGCCCGGCCCTGCCGCTAACCGCTGTTATCTGGGGCGGGGTTCACTTGCTGGGTGCCTGAGTCCTCATCTTTAGGATGGGAGTGCTCACAGCACCTGCTAAGTAGAGTGTGAAGATGAGCTAGGTGTACTGACGCTCGGTGCTGAGAACAGTGGACAGCTCGGGGCAGCTCAGAAGAGCCTGCTGTCGTGAGCGTTAAGGGGACAGAGAGCTAAGTATTAAAGTTGTGAGGATTCTCTCCTCAG... |
Task1_train_18902 | A variant affecting Chromosome 12, within the gene PUS1 (pseudouridine synthase 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Myopathy, lactic acidosis, and sideroblastic anemia 1 | GCCTCCTTAAAATGTGACTGTCTACCTTTTAAGTGGCAGGTACAGGCAACTTACATAATACATTCGTTCATTCATTTATTCTGTTTGTTTTTTGAGAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCATGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAGTCCTCAGCCTCCTGAGTAACTGGGACTACAGGTGTGTGCCACCACACTTCATTTTTGAGTTTGTAGAGATGGGGTCTCATTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCTGCCTTGGCCTCCCA... | GCCTCCTTAAAATGTGACTGTCTACCTTTTAAGTGGCAGGTACAGGCAACTTACATAATACATTCGTTCATTCATTTATTCTGTTTGTTTTTTGAGAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCATGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAGTCCTCAGCCTCCTGAGTAACTGGGACTACAGGTGTGTGCCACCACACTTCATTTTTGAGTTTGTAGAGATGGGGTCTCATTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCTGCCTTGGCCTCCCA... |
Task1_train_18903 | Here is a genetic alteration in P2RX2 (purinergic receptor P2X 2) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 41 | GGGCAGGAAGTTTTTATAGATAGAACACAGAAGTGAGATACAAAAAAAAAAAAATCACAATTAGCTTGATTTTGTTACTGCTTGAAATGTTTGCCTTATATGGCATGATCAGATCAGTTAGCAGCCTGTGACTGGCTGAGACCCAGCTATTTGTTCCAAAATATACTCATAGGTTAAGCTTTTAGCTTGTTTCTGTGGTACATTAGGTTGCAGTTTGTTGTTACCTAGAAACTCAAGGCACAGAGGCAGCCTGTTAATTGAGTTAATTTAACAGTTCAAACAAATACTTATGCACCAGTGTTTATAACAGCACTATTCAC... | GGGCAGGAAGTTTTTATAGATAGAACACAGAAGTGAGATACAAAAAAAAAAAAATCACAATTAGCTTGATTTTGTTACTGCTTGAAATGTTTGCCTTATATGGCATGATCAGATCAGTTAGCAGCCTGTGACTGGCTGAGACCCAGCTATTTGTTCCAAAATATACTCATAGGTTAAGCTTTTAGCTTGTTTCTGTGGTACATTAGGTTGCAGTTTGTTGTTACCTAGAAACTCAAGGCACAGAGGCAGCCTGTTAATTGAGTTAATTTAACAGTTCAAACAAATACTTATGCACCAGTGTTTATAACAGCACTATTCAC... |
Task1_train_18904 | This sequence change occurs on Chromosome 12, altering P2RX2 (purinergic receptor P2X 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 41 | CGAGAGCTCCATCATCACCAAGGTCAAGGGGATCACCACGTCCGAGCACAAAGTGTGGGACGTGGAGGAGTACGTGAAGCCCCCCGAGGTGCGGGCCGCCCCCTGCCCCCCGCCCCGCCGTGCACCCTACCCTAGTGGGCGGAGGGGGCAGCGGCTGCCGCCTGGCCGACCGCCCCCTCTTTCTGAGCCCAGGGGGGCAGCGTGTTCAGCATCATCACCAGGGTCGAGGCCACCCACTCCCAGACCCAGGGAACCTGCCCCGAGGTGAGGGGATCCCGCGGCGCTGGGGGACCCCGCCTCAGCTAGGCGGGCCAGCTGTC... | CGAGAGCTCCATCATCACCAAGGTCAAGGGGATCACCACGTCCGAGCACAAAGTGTGGGACGTGGAGGAGTACGTGAAGCCCCCCGAGGTGCGGGCCGCCCCCTGCCCCCCGCCCCGCCGTGCACCCTACCCTAGTGGGCGGAGGGGGCAGCGGCTGCCGCCTGGCCGACCGCCCCCTCTTTCTGAGCCCAGGGGGGCAGCGTGTTCAGCATCATCACCAGGGTCGAGGCCACCCACTCCCAGACCCAGGGAACCTGCCCCGAGGTGAGGGGATCCCGCGGCGCTGGGGGACCCCGCCTCAGCTAGGCGGGCCAGCTGTC... |
Task1_train_18905 | This variant lies on Chromosome 12 and affects the gene P2RX2 (purinergic receptor P2X 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | CGAGAGCTCCATCATCACCAAGGTCAAGGGGATCACCACGTCCGAGCACAAAGTGTGGGACGTGGAGGAGTACGTGAAGCCCCCCGAGGTGCGGGCCGCCCCCTGCCCCCCGCCCCGCCGTGCACCCTACCCTAGTGGGCGGAGGGGGCAGCGGCTGCCGCCTGGCCGACCGCCCCCTCTTTCTGAGCCCAGGGGGGCAGCGTGTTCAGCATCATCACCAGGGTCGAGGCCACCCACTCCCAGACCCAGGGAACCTGCCCCGAGGTGAGGGGATCCCGCGGCGCTGGGGGACCCCGCCTCAGCTAGGCGGGCCAGCTGTC... | CGAGAGCTCCATCATCACCAAGGTCAAGGGGATCACCACGTCCGAGCACAAAGTGTGGGACGTGGAGGAGTACGTGAAGCCCCCCGAGGTGCGGGCCGCCCCCTGCCCCCCGCCCCGCCGTGCACCCTACCCTAGTGGGCGGAGGGGGCAGCGGCTGCCGCCTGGCCGACCGCCCCCTCTTTCTGAGCCCAGGGGGGCAGCGTGTTCAGCATCATCACCAGGGTCGAGGCCACCCACTCCCAGACCCAGGGAACCTGCCCCGAGGTGAGGGGATCCCGCGGCGCTGGGGGACCCCGCCTCAGCTAGGCGGGCCAGCTGTC... |
Task1_train_18906 | Here’s a variant in POLE (DNA polymerase epsilon, catalytic subunit) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Myoepithelial tumor | CACATATATTGAGAAATTCGAAACAGGTTTATCACTGAAGGAGAAAGAAGTCACTAATAAGAAAGGGGCAGACTCATGTGTTTAAATGCATCCATGCAGACAGACAGACACAGAAATAAACAGTTCTGTGTGCGTGCGTTACTAGAGACATACTTCCTGGCTGCCTCCACTATGAGAGACTGGAAGCTATGACACTCCCAGGAACAGTGAGCACAGCAAGCACCCCATCTCGGGTTTTTACATCATTCTTCTCGGAGAACTGGCTGACTCCAGGTTGGAGCAGGGAAAATACAAGATGAGGCTGGTGGACCTTACAGTAC... | CACATATATTGAGAAATTCGAAACAGGTTTATCACTGAAGGAGAAAGAAGTCACTAATAAGAAAGGGGCAGACTCATGTGTTTAAATGCATCCATGCAGACAGACAGACACAGAAATAAACAGTTCTGTGTGCGTGCGTTACTAGAGACATACTTCCTGGCTGCCTCCACTATGAGAGACTGGAAGCTATGACACTCCCAGGAACAGTGAGCACAGCAAGCACCCCATCTCGGGTTTTTACATCATTCTTCTCGGAGAACTGGCTGACTCCAGGTTGGAGCAGGGAAAATACAAGATGAGGCTGGTGGACCTTACAGTAC... |
Task1_train_18907 | This is a variant in POLE (DNA polymerase epsilon, catalytic subunit), located on Chromosome 12. Is this mutation a likely cause of disease or not? | Pathogenic; Facial dysmorphism-immunodeficiency-livedo-short stature syndrome | CCAAACTCATGCCATTGCACTCCAGCCCAGGCCAACAACAGCGAGACTCCATCTCAAAAAGGGAAAAAAAAAAAAAAAAAAAAAAAAGACCTGAGATGTGCCATGTCCTGAGGAACAGGGATCAGAGAAGAACTGGTGTCTCCCTCTCCAGTCACATAACACACTTTGTAAGTGTGCTTTCTAACCATTATGTAAACAGATTTTACAGTCACTAATCCTGTCATTTGTAGGAATTTACTGTCATTTTTAAGTCTCAACAACAAAAAGTAAATAAAATTTAAAACCTCCAATGGCTCCCCAGTGCCTATAAAATAAAGTCC... | CCAAACTCATGCCATTGCACTCCAGCCCAGGCCAACAACAGCGAGACTCCATCTCAAAAAGGGAAAAAAAAAAAAAAAAAAAAAAAAGACCTGAGATGTGCCATGTCCTGAGGAACAGGGATCAGAGAAGAACTGGTGTCTCCCTCTCCAGTCACATAACACACTTTGTAAGTGTGCTTTCTAACCATTATGTAAACAGATTTTACAGTCACTAATCCTGTCATTTGTAGGAATTTACTGTCATTTTTAAGTCTCAACAACAAAAAGTAAATAAAATTTAAAACCTCCAATGGCTCCCCAGTGCCTATAAAATAAAGTCC... |
Task1_train_18908 | This variant affects gene POLE (DNA polymerase epsilon, catalytic subunit) located on Chromosome 12. Evaluate its biological effect and specify any disease association. | Pathogenic; Colorectal cancer, susceptibility to, 12 | CCAAACTCATGCCATTGCACTCCAGCCCAGGCCAACAACAGCGAGACTCCATCTCAAAAAGGGAAAAAAAAAAAAAAAAAAAAAAAAGACCTGAGATGTGCCATGTCCTGAGGAACAGGGATCAGAGAAGAACTGGTGTCTCCCTCTCCAGTCACATAACACACTTTGTAAGTGTGCTTTCTAACCATTATGTAAACAGATTTTACAGTCACTAATCCTGTCATTTGTAGGAATTTACTGTCATTTTTAAGTCTCAACAACAAAAAGTAAATAAAATTTAAAACCTCCAATGGCTCCCCAGTGCCTATAAAATAAAGTCC... | CCAAACTCATGCCATTGCACTCCAGCCCAGGCCAACAACAGCGAGACTCCATCTCAAAAAGGGAAAAAAAAAAAAAAAAAAAAAAAAGACCTGAGATGTGCCATGTCCTGAGGAACAGGGATCAGAGAAGAACTGGTGTCTCCCTCTCCAGTCACATAACACACTTTGTAAGTGTGCTTTCTAACCATTATGTAAACAGATTTTACAGTCACTAATCCTGTCATTTGTAGGAATTTACTGTCATTTTTAAGTCTCAACAACAAAAAGTAAATAAAATTTAAAACCTCCAATGGCTCCCCAGTGCCTATAAAATAAAGTCC... |
Task1_train_18909 | This variant affects gene POLE (DNA polymerase epsilon, catalytic subunit) located on Chromosome 12. Evaluate its biological effect and specify any disease association. | Pathogenic; Hereditary cancer-predisposing syndrome | CCAAACTCATGCCATTGCACTCCAGCCCAGGCCAACAACAGCGAGACTCCATCTCAAAAAGGGAAAAAAAAAAAAAAAAAAAAAAAAGACCTGAGATGTGCCATGTCCTGAGGAACAGGGATCAGAGAAGAACTGGTGTCTCCCTCTCCAGTCACATAACACACTTTGTAAGTGTGCTTTCTAACCATTATGTAAACAGATTTTACAGTCACTAATCCTGTCATTTGTAGGAATTTACTGTCATTTTTAAGTCTCAACAACAAAAAGTAAATAAAATTTAAAACCTCCAATGGCTCCCCAGTGCCTATAAAATAAAGTCC... | CCAAACTCATGCCATTGCACTCCAGCCCAGGCCAACAACAGCGAGACTCCATCTCAAAAAGGGAAAAAAAAAAAAAAAAAAAAAAAAGACCTGAGATGTGCCATGTCCTGAGGAACAGGGATCAGAGAAGAACTGGTGTCTCCCTCTCCAGTCACATAACACACTTTGTAAGTGTGCTTTCTAACCATTATGTAAACAGATTTTACAGTCACTAATCCTGTCATTTGTAGGAATTTACTGTCATTTTTAAGTCTCAACAACAAAAAGTAAATAAAATTTAAAACCTCCAATGGCTCCCCAGTGCCTATAAAATAAAGTCC... |
Task1_train_18910 | This mutation is located in gene POLE (DNA polymerase epsilon, catalytic subunit) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Cystic fibrosis-gastritis-megaloblastic anemia syndrome | CCAAACTCATGCCATTGCACTCCAGCCCAGGCCAACAACAGCGAGACTCCATCTCAAAAAGGGAAAAAAAAAAAAAAAAAAAAAAAAGACCTGAGATGTGCCATGTCCTGAGGAACAGGGATCAGAGAAGAACTGGTGTCTCCCTCTCCAGTCACATAACACACTTTGTAAGTGTGCTTTCTAACCATTATGTAAACAGATTTTACAGTCACTAATCCTGTCATTTGTAGGAATTTACTGTCATTTTTAAGTCTCAACAACAAAAAGTAAATAAAATTTAAAACCTCCAATGGCTCCCCAGTGCCTATAAAATAAAGTCC... | CCAAACTCATGCCATTGCACTCCAGCCCAGGCCAACAACAGCGAGACTCCATCTCAAAAAGGGAAAAAAAAAAAAAAAAAAAAAAAAGACCTGAGATGTGCCATGTCCTGAGGAACAGGGATCAGAGAAGAACTGGTGTCTCCCTCTCCAGTCACATAACACACTTTGTAAGTGTGCTTTCTAACCATTATGTAAACAGATTTTACAGTCACTAATCCTGTCATTTGTAGGAATTTACTGTCATTTTTAAGTCTCAACAACAAAAAGTAAATAAAATTTAAAACCTCCAATGGCTCCCCAGTGCCTATAAAATAAAGTCC... |
Task1_train_18911 | This sequence change occurs on Chromosome 12, altering POLE (DNA polymerase epsilon, catalytic subunit). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Polymerase proofreading-related adenomatous polyposis | CCAAACTCATGCCATTGCACTCCAGCCCAGGCCAACAACAGCGAGACTCCATCTCAAAAAGGGAAAAAAAAAAAAAAAAAAAAAAAAGACCTGAGATGTGCCATGTCCTGAGGAACAGGGATCAGAGAAGAACTGGTGTCTCCCTCTCCAGTCACATAACACACTTTGTAAGTGTGCTTTCTAACCATTATGTAAACAGATTTTACAGTCACTAATCCTGTCATTTGTAGGAATTTACTGTCATTTTTAAGTCTCAACAACAAAAAGTAAATAAAATTTAAAACCTCCAATGGCTCCCCAGTGCCTATAAAATAAAGTCC... | CCAAACTCATGCCATTGCACTCCAGCCCAGGCCAACAACAGCGAGACTCCATCTCAAAAAGGGAAAAAAAAAAAAAAAAAAAAAAAAGACCTGAGATGTGCCATGTCCTGAGGAACAGGGATCAGAGAAGAACTGGTGTCTCCCTCTCCAGTCACATAACACACTTTGTAAGTGTGCTTTCTAACCATTATGTAAACAGATTTTACAGTCACTAATCCTGTCATTTGTAGGAATTTACTGTCATTTTTAAGTCTCAACAACAAAAAGTAAATAAAATTTAAAACCTCCAATGGCTCCCCAGTGCCTATAAAATAAAGTCC... |
Task1_train_18912 | Here is a mutation in POLE (DNA polymerase epsilon, catalytic subunit) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Familial colorectal cancer type X | CCAAACTCATGCCATTGCACTCCAGCCCAGGCCAACAACAGCGAGACTCCATCTCAAAAAGGGAAAAAAAAAAAAAAAAAAAAAAAAGACCTGAGATGTGCCATGTCCTGAGGAACAGGGATCAGAGAAGAACTGGTGTCTCCCTCTCCAGTCACATAACACACTTTGTAAGTGTGCTTTCTAACCATTATGTAAACAGATTTTACAGTCACTAATCCTGTCATTTGTAGGAATTTACTGTCATTTTTAAGTCTCAACAACAAAAAGTAAATAAAATTTAAAACCTCCAATGGCTCCCCAGTGCCTATAAAATAAAGTCC... | CCAAACTCATGCCATTGCACTCCAGCCCAGGCCAACAACAGCGAGACTCCATCTCAAAAAGGGAAAAAAAAAAAAAAAAAAAAAAAAGACCTGAGATGTGCCATGTCCTGAGGAACAGGGATCAGAGAAGAACTGGTGTCTCCCTCTCCAGTCACATAACACACTTTGTAAGTGTGCTTTCTAACCATTATGTAAACAGATTTTACAGTCACTAATCCTGTCATTTGTAGGAATTTACTGTCATTTTTAAGTCTCAACAACAAAAAGTAAATAAAATTTAAAACCTCCAATGGCTCCCCAGTGCCTATAAAATAAAGTCC... |
Task1_train_18913 | This sequence change occurs on Chromosome 12, altering POLE (DNA polymerase epsilon, catalytic subunit). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Neoplasm | CCAAACTCATGCCATTGCACTCCAGCCCAGGCCAACAACAGCGAGACTCCATCTCAAAAAGGGAAAAAAAAAAAAAAAAAAAAAAAAGACCTGAGATGTGCCATGTCCTGAGGAACAGGGATCAGAGAAGAACTGGTGTCTCCCTCTCCAGTCACATAACACACTTTGTAAGTGTGCTTTCTAACCATTATGTAAACAGATTTTACAGTCACTAATCCTGTCATTTGTAGGAATTTACTGTCATTTTTAAGTCTCAACAACAAAAAGTAAATAAAATTTAAAACCTCCAATGGCTCCCCAGTGCCTATAAAATAAAGTCC... | CCAAACTCATGCCATTGCACTCCAGCCCAGGCCAACAACAGCGAGACTCCATCTCAAAAAGGGAAAAAAAAAAAAAAAAAAAAAAAAGACCTGAGATGTGCCATGTCCTGAGGAACAGGGATCAGAGAAGAACTGGTGTCTCCCTCTCCAGTCACATAACACACTTTGTAAGTGTGCTTTCTAACCATTATGTAAACAGATTTTACAGTCACTAATCCTGTCATTTGTAGGAATTTACTGTCATTTTTAAGTCTCAACAACAAAAAGTAAATAAAATTTAAAACCTCCAATGGCTCCCCAGTGCCTATAAAATAAAGTCC... |
Task1_train_18914 | The gene ANKLE2 (ankyrin repeat and LEM domain containing 2) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Microcephaly 16, primary, autosomal recessive | GCCCCTACGTATTCTTTAAAAAGATCTTACAGAACAATATTCCATTCTATTCATAGTGTTTAACCAATTATGTACTCATAGGCGTCACCACAAATGGTATCACAGTAATAACAATACTCATAACAGTGTGCAATTTCTGGCATCCCAATTAATACTGAGTTCTCATTTCTTTTTTCCAATGCTAAATCTTCTTTAAAATTACAATTCTTGGGCTGGGCACAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTCAGGTGGGAGGACTGCTTGAAGCCAGGAGTTCAAGACCAGACTAAGCAATAAAGCGAGACCC... | GCCCCTACGTATTCTTTAAAAAGATCTTACAGAACAATATTCCATTCTATTCATAGTGTTTAACCAATTATGTACTCATAGGCGTCACCACAAATGGTATCACAGTAATAACAATACTCATAACAGTGTGCAATTTCTGGCATCCCAATTAATACTGAGTTCTCATTTCTTTTTTCCAATGCTAAATCTTCTTTAAAATTACAATTCTTGGGCTGGGCACAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTCAGGTGGGAGGACTGCTTGAAGCCAGGAGTTCAAGACCAGACTAAGCAATAAAGCGAGACCC... |
Task1_train_18915 | The variant affects gene GJA3 (gap junction protein alpha 3), which is on Chromosome 13. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Cataract 14 multiple types | CTGCCGTCTTCCAGCCATGCCCACACACATAAATAGCCTTCCCTGTCAGGACAGCTCTGGTGTGGAGGCAGAATGGGGCATACAGCCTGCATGAGCACGCGCCCTCCCCCAGGCAGGGATCCCCAGACACTTATATTATTTACACTGGAGAAAGCAAACAGGCTGCCCACAAAGAATGATTAGGAAGCTTGAAGTGTTTTATTCTGTACTTTTTAAAAGTGTAGATTGTCATAGATTCATCTGTATAAATAATTTTCCTGGCAACAGTAGTTCACTTTTCACTTCCCATTCAAAATCTTCAGAACTTCTATTTGAATGCA... | CTGCCGTCTTCCAGCCATGCCCACACACATAAATAGCCTTCCCTGTCAGGACAGCTCTGGTGTGGAGGCAGAATGGGGCATACAGCCTGCATGAGCACGCGCCCTCCCCCAGGCAGGGATCCCCAGACACTTATATTATTTACACTGGAGAAAGCAAACAGGCTGCCCACAAAGAATGATTAGGAAGCTTGAAGTGTTTTATTCTGTACTTTTTAAAAGTGTAGATTGTCATAGATTCATCTGTATAAATAATTTTCCTGGCAACAGTAGTTCACTTTTCACTTCCCATTCAAAATCTTCAGAACTTCTATTTGAATGCA... |
Task1_train_18916 | A genomic change on Chromosome 13 affects GJA3 (gap junction protein alpha 3). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Cataract 14 multiple types | CTTCCAGCCATGCCCACACACATAAATAGCCTTCCCTGTCAGGACAGCTCTGGTGTGGAGGCAGAATGGGGCATACAGCCTGCATGAGCACGCGCCCTCCCCCAGGCAGGGATCCCCAGACACTTATATTATTTACACTGGAGAAAGCAAACAGGCTGCCCACAAAGAATGATTAGGAAGCTTGAAGTGTTTTATTCTGTACTTTTTAAAAGTGTAGATTGTCATAGATTCATCTGTATAAATAATTTTCCTGGCAACAGTAGTTCACTTTTCACTTCCCATTCAAAATCTTCAGAACTTCTATTTGAATGCACTTAAAA... | CTTCCAGCCATGCCCACACACATAAATAGCCTTCCCTGTCAGGACAGCTCTGGTGTGGAGGCAGAATGGGGCATACAGCCTGCATGAGCACGCGCCCTCCCCCAGGCAGGGATCCCCAGACACTTATATTATTTACACTGGAGAAAGCAAACAGGCTGCCCACAAAGAATGATTAGGAAGCTTGAAGTGTTTTATTCTGTACTTTTTAAAAGTGTAGATTGTCATAGATTCATCTGTATAAATAATTTTCCTGGCAACAGTAGTTCACTTTTCACTTCCCATTCAAAATCTTCAGAACTTCTATTTGAATGCACTTAAAA... |
Task1_train_18917 | An alteration has been detected in GJA3 (gap junction protein alpha 3) on Chromosome 13. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Cataract 14 multiple types | GCTCTGGTGTGGAGGCAGAATGGGGCATACAGCCTGCATGAGCACGCGCCCTCCCCCAGGCAGGGATCCCCAGACACTTATATTATTTACACTGGAGAAAGCAAACAGGCTGCCCACAAAGAATGATTAGGAAGCTTGAAGTGTTTTATTCTGTACTTTTTAAAAGTGTAGATTGTCATAGATTCATCTGTATAAATAATTTTCCTGGCAACAGTAGTTCACTTTTCACTTCCCATTCAAAATCTTCAGAACTTCTATTTGAATGCACTTAAAACTTTCCCCTGCTTTTGTTTTATATAATACATTCTCATTATAATTAG... | GCTCTGGTGTGGAGGCAGAATGGGGCATACAGCCTGCATGAGCACGCGCCCTCCCCCAGGCAGGGATCCCCAGACACTTATATTATTTACACTGGAGAAAGCAAACAGGCTGCCCACAAAGAATGATTAGGAAGCTTGAAGTGTTTTATTCTGTACTTTTTAAAAGTGTAGATTGTCATAGATTCATCTGTATAAATAATTTTCCTGGCAACAGTAGTTCACTTTTCACTTCCCATTCAAAATCTTCAGAACTTCTATTTGAATGCACTTAAAACTTTCCCCTGCTTTTGTTTTATATAATACATTCTCATTATAATTAG... |
Task1_train_18918 | Given this variant in gene GJA3 (gap junction protein alpha 3) on Chromosome 13, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Cataract 14 multiple types | GCTCTGGTGTGGAGGCAGAATGGGGCATACAGCCTGCATGAGCACGCGCCCTCCCCCAGGCAGGGATCCCCAGACACTTATATTATTTACACTGGAGAAAGCAAACAGGCTGCCCACAAAGAATGATTAGGAAGCTTGAAGTGTTTTATTCTGTACTTTTTAAAAGTGTAGATTGTCATAGATTCATCTGTATAAATAATTTTCCTGGCAACAGTAGTTCACTTTTCACTTCCCATTCAAAATCTTCAGAACTTCTATTTGAATGCACTTAAAACTTTCCCCTGCTTTTGTTTTATATAATACATTCTCATTATAATTAG... | GCTCTGGTGTGGAGGCAGAATGGGGCATACAGCCTGCATGAGCACGCGCCCTCCCCCAGGCAGGGATCCCCAGACACTTATATTATTTACACTGGAGAAAGCAAACAGGCTGCCCACAAAGAATGATTAGGAAGCTTGAAGTGTTTTATTCTGTACTTTTTAAAAGTGTAGATTGTCATAGATTCATCTGTATAAATAATTTTCCTGGCAACAGTAGTTCACTTTTCACTTCCCATTCAAAATCTTCAGAACTTCTATTTGAATGCACTTAAAACTTTCCCCTGCTTTTGTTTTATATAATACATTCTCATTATAATTAG... |
Task1_train_18919 | This variant affects the gene GJA3 (gap junction protein alpha 3) found on Chromosome 13. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Cataract 14 multiple types | CTGGTGTGGAGGCAGAATGGGGCATACAGCCTGCATGAGCACGCGCCCTCCCCCAGGCAGGGATCCCCAGACACTTATATTATTTACACTGGAGAAAGCAAACAGGCTGCCCACAAAGAATGATTAGGAAGCTTGAAGTGTTTTATTCTGTACTTTTTAAAAGTGTAGATTGTCATAGATTCATCTGTATAAATAATTTTCCTGGCAACAGTAGTTCACTTTTCACTTCCCATTCAAAATCTTCAGAACTTCTATTTGAATGCACTTAAAACTTTCCCCTGCTTTTGTTTTATATAATACATTCTCATTATAATTAGGTG... | CTGGTGTGGAGGCAGAATGGGGCATACAGCCTGCATGAGCACGCGCCCTCCCCCAGGCAGGGATCCCCAGACACTTATATTATTTACACTGGAGAAAGCAAACAGGCTGCCCACAAAGAATGATTAGGAAGCTTGAAGTGTTTTATTCTGTACTTTTTAAAAGTGTAGATTGTCATAGATTCATCTGTATAAATAATTTTCCTGGCAACAGTAGTTCACTTTTCACTTCCCATTCAAAATCTTCAGAACTTCTATTTGAATGCACTTAAAACTTTCCCCTGCTTTTGTTTTATATAATACATTCTCATTATAATTAGGTG... |
Task1_train_18920 | This mutation occurs in GJA3 (gap junction protein alpha 3) on Chromosome 13. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Cataract 14 multiple types | AAAGCAAACAGGCTGCCCACAAAGAATGATTAGGAAGCTTGAAGTGTTTTATTCTGTACTTTTTAAAAGTGTAGATTGTCATAGATTCATCTGTATAAATAATTTTCCTGGCAACAGTAGTTCACTTTTCACTTCCCATTCAAAATCTTCAGAACTTCTATTTGAATGCACTTAAAACTTTCCCCTGCTTTTGTTTTATATAATACATTCTCATTATAATTAGGTGACTCATGAAATTAAAGAATTTCTTTTACAAGAAAGTTCAAAATCTTTAGTAAAGATGCTAGTAGCATGCATTAGGGCAAATTAGCACTGTCTTG... | AAAGCAAACAGGCTGCCCACAAAGAATGATTAGGAAGCTTGAAGTGTTTTATTCTGTACTTTTTAAAAGTGTAGATTGTCATAGATTCATCTGTATAAATAATTTTCCTGGCAACAGTAGTTCACTTTTCACTTCCCATTCAAAATCTTCAGAACTTCTATTTGAATGCACTTAAAACTTTCCCCTGCTTTTGTTTTATATAATACATTCTCATTATAATTAGGTGACTCATGAAATTAAAGAATTTCTTTTACAAGAAAGTTCAAAATCTTTAGTAAAGATGCTAGTAGCATGCATTAGGGCAAATTAGCACTGTCTTG... |
Task1_train_18921 | A genetic alteration is present in GJA3 (gap junction protein alpha 3) on Chromosome 13. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Cataract 14 multiple types | TGAAGTGTTTTATTCTGTACTTTTTAAAAGTGTAGATTGTCATAGATTCATCTGTATAAATAATTTTCCTGGCAACAGTAGTTCACTTTTCACTTCCCATTCAAAATCTTCAGAACTTCTATTTGAATGCACTTAAAACTTTCCCCTGCTTTTGTTTTATATAATACATTCTCATTATAATTAGGTGACTCATGAAATTAAAGAATTTCTTTTACAAGAAAGTTCAAAATCTTTAGTAAAGATGCTAGTAGCATGCATTAGGGCAAATTAGCACTGTCTTGGTCAGCAATCATTCTAACAGTATTTAAAGAAAGAAAAAC... | TGAAGTGTTTTATTCTGTACTTTTTAAAAGTGTAGATTGTCATAGATTCATCTGTATAAATAATTTTCCTGGCAACAGTAGTTCACTTTTCACTTCCCATTCAAAATCTTCAGAACTTCTATTTGAATGCACTTAAAACTTTCCCCTGCTTTTGTTTTATATAATACATTCTCATTATAATTAGGTGACTCATGAAATTAAAGAATTTCTTTTACAAGAAAGTTCAAAATCTTTAGTAAAGATGCTAGTAGCATGCATTAGGGCAAATTAGCACTGTCTTGGTCAGCAATCATTCTAACAGTATTTAAAGAAAGAAAAAC... |
Task1_train_18922 | A mutation found in GJA3 (gap junction protein alpha 3) on Chromosome 13 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Cataract 14 multiple types | ATTCTCATTATAATTAGGTGACTCATGAAATTAAAGAATTTCTTTTACAAGAAAGTTCAAAATCTTTAGTAAAGATGCTAGTAGCATGCATTAGGGCAAATTAGCACTGTCTTGGTCAGCAATCATTCTAACAGTATTTAAAGAAAGAAAAACACTATTTTTCTTTCATTTTTCCTGAAAGAAAGTGGGAGAAAATAGGCATAGCTGCACCATTCAAAGCACAAAATAATCATTTAGAAAATAAATACCTACGGCATACCCGACACACTTTTATGTCAATTTCCTCAACTGTTTAAAAATGGCCTCAGGCGTGGCTGCGT... | ATTCTCATTATAATTAGGTGACTCATGAAATTAAAGAATTTCTTTTACAAGAAAGTTCAAAATCTTTAGTAAAGATGCTAGTAGCATGCATTAGGGCAAATTAGCACTGTCTTGGTCAGCAATCATTCTAACAGTATTTAAAGAAAGAAAAACACTATTTTTCTTTCATTTTTCCTGAAAGAAAGTGGGAGAAAATAGGCATAGCTGCACCATTCAAAGCACAAAATAATCATTTAGAAAATAAATACCTACGGCATACCCGACACACTTTTATGTCAATTTCCTCAACTGTTTAAAAATGGCCTCAGGCGTGGCTGCGT... |
Task1_train_18923 | A mutation found in GJA3 (gap junction protein alpha 3) on Chromosome 13 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Cataract 14 multiple types | AAGAATTTCTTTTACAAGAAAGTTCAAAATCTTTAGTAAAGATGCTAGTAGCATGCATTAGGGCAAATTAGCACTGTCTTGGTCAGCAATCATTCTAACAGTATTTAAAGAAAGAAAAACACTATTTTTCTTTCATTTTTCCTGAAAGAAAGTGGGAGAAAATAGGCATAGCTGCACCATTCAAAGCACAAAATAATCATTTAGAAAATAAATACCTACGGCATACCCGACACACTTTTATGTCAATTTCCTCAACTGTTTAAAAATGGCCTCAGGCGTGGCTGCGTTTCCACCTGCCTTCTGCCAGCAACCTCTGGGGC... | AAGAATTTCTTTTACAAGAAAGTTCAAAATCTTTAGTAAAGATGCTAGTAGCATGCATTAGGGCAAATTAGCACTGTCTTGGTCAGCAATCATTCTAACAGTATTTAAAGAAAGAAAAACACTATTTTTCTTTCATTTTTCCTGAAAGAAAGTGGGAGAAAATAGGCATAGCTGCACCATTCAAAGCACAAAATAATCATTTAGAAAATAAATACCTACGGCATACCCGACACACTTTTATGTCAATTTCCTCAACTGTTTAAAAATGGCCTCAGGCGTGGCTGCGTTTCCACCTGCCTTCTGCCAGCAACCTCTGGGGC... |
Task1_train_18924 | A variant was discovered in gene GJA3 (gap junction protein alpha 3), Chromosome 13. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Cataract 14 multiple types | AGATGCTAGTAGCATGCATTAGGGCAAATTAGCACTGTCTTGGTCAGCAATCATTCTAACAGTATTTAAAGAAAGAAAAACACTATTTTTCTTTCATTTTTCCTGAAAGAAAGTGGGAGAAAATAGGCATAGCTGCACCATTCAAAGCACAAAATAATCATTTAGAAAATAAATACCTACGGCATACCCGACACACTTTTATGTCAATTTCCTCAACTGTTTAAAAATGGCCTCAGGCGTGGCTGCGTTTCCACCTGCCTTCTGCCAGCAACCTCTGGGGCCCTTGCCCACTGAGCCTGCCTCTGGAGGGCAACTGCTCT... | AGATGCTAGTAGCATGCATTAGGGCAAATTAGCACTGTCTTGGTCAGCAATCATTCTAACAGTATTTAAAGAAAGAAAAACACTATTTTTCTTTCATTTTTCCTGAAAGAAAGTGGGAGAAAATAGGCATAGCTGCACCATTCAAAGCACAAAATAATCATTTAGAAAATAAATACCTACGGCATACCCGACACACTTTTATGTCAATTTCCTCAACTGTTTAAAAATGGCCTCAGGCGTGGCTGCGTTTCCACCTGCCTTCTGCCAGCAACCTCTGGGGCCCTTGCCCACTGAGCCTGCCTCTGGAGGGCAACTGCTCT... |
Task1_train_18925 | This is a variant in GJA3 (gap junction protein alpha 3), located on Chromosome 13. Is this mutation a likely cause of disease or not? | Pathogenic; Cataract 14 multiple types | ACAGTATTTAAAGAAAGAAAAACACTATTTTTCTTTCATTTTTCCTGAAAGAAAGTGGGAGAAAATAGGCATAGCTGCACCATTCAAAGCACAAAATAATCATTTAGAAAATAAATACCTACGGCATACCCGACACACTTTTATGTCAATTTCCTCAACTGTTTAAAAATGGCCTCAGGCGTGGCTGCGTTTCCACCTGCCTTCTGCCAGCAACCTCTGGGGCCCTTGCCCACTGAGCCTGCCTCTGGAGGGCAACTGCTCTTTGTCACTTGTCATGAGGCCTGAAGCTTGATATCCTGGGCTTCACATGCAATTTCGGA... | ACAGTATTTAAAGAAAGAAAAACACTATTTTTCTTTCATTTTTCCTGAAAGAAAGTGGGAGAAAATAGGCATAGCTGCACCATTCAAAGCACAAAATAATCATTTAGAAAATAAATACCTACGGCATACCCGACACACTTTTATGTCAATTTCCTCAACTGTTTAAAAATGGCCTCAGGCGTGGCTGCGTTTCCACCTGCCTTCTGCCAGCAACCTCTGGGGCCCTTGCCCACTGAGCCTGCCTCTGGAGGGCAACTGCTCTTTGTCACTTGTCATGAGGCCTGAAGCTTGATATCCTGGGCTTCACATGCAATTTCGGA... |
Task1_train_18926 | A mutation in GJA3 (gap junction protein alpha 3), located on Chromosome 13, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Cataract 14 multiple types | CTGCACCATTCAAAGCACAAAATAATCATTTAGAAAATAAATACCTACGGCATACCCGACACACTTTTATGTCAATTTCCTCAACTGTTTAAAAATGGCCTCAGGCGTGGCTGCGTTTCCACCTGCCTTCTGCCAGCAACCTCTGGGGCCCTTGCCCACTGAGCCTGCCTCTGGAGGGCAACTGCTCTTTGTCACTTGTCATGAGGCCTGAAGCTTGATATCCTGGGCTTCACATGCAATTTCGGAAACTCAAATGACACTACATAGACTTGCTGTAAATCTTTTTTTAGTGCAGTTTGGCAAATATCCCAAATGAAATT... | CTGCACCATTCAAAGCACAAAATAATCATTTAGAAAATAAATACCTACGGCATACCCGACACACTTTTATGTCAATTTCCTCAACTGTTTAAAAATGGCCTCAGGCGTGGCTGCGTTTCCACCTGCCTTCTGCCAGCAACCTCTGGGGCCCTTGCCCACTGAGCCTGCCTCTGGAGGGCAACTGCTCTTTGTCACTTGTCATGAGGCCTGAAGCTTGATATCCTGGGCTTCACATGCAATTTCGGAAACTCAAATGACACTACATAGACTTGCTGTAAATCTTTTTTTAGTGCAGTTTGGCAAATATCCCAAATGAAATT... |
Task1_train_18927 | With a mutation on Chromosome 13 in gene GJA3 (gap junction protein alpha 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Congenital cataracts-facial dysmorphism-neuropathy syndrome | CTGCACCATTCAAAGCACAAAATAATCATTTAGAAAATAAATACCTACGGCATACCCGACACACTTTTATGTCAATTTCCTCAACTGTTTAAAAATGGCCTCAGGCGTGGCTGCGTTTCCACCTGCCTTCTGCCAGCAACCTCTGGGGCCCTTGCCCACTGAGCCTGCCTCTGGAGGGCAACTGCTCTTTGTCACTTGTCATGAGGCCTGAAGCTTGATATCCTGGGCTTCACATGCAATTTCGGAAACTCAAATGACACTACATAGACTTGCTGTAAATCTTTTTTTAGTGCAGTTTGGCAAATATCCCAAATGAAATT... | CTGCACCATTCAAAGCACAAAATAATCATTTAGAAAATAAATACCTACGGCATACCCGACACACTTTTATGTCAATTTCCTCAACTGTTTAAAAATGGCCTCAGGCGTGGCTGCGTTTCCACCTGCCTTCTGCCAGCAACCTCTGGGGCCCTTGCCCACTGAGCCTGCCTCTGGAGGGCAACTGCTCTTTGTCACTTGTCATGAGGCCTGAAGCTTGATATCCTGGGCTTCACATGCAATTTCGGAAACTCAAATGACACTACATAGACTTGCTGTAAATCTTTTTTTAGTGCAGTTTGGCAAATATCCCAAATGAAATT... |
Task1_train_18928 | The following genetic variant occurs in GJA3 (gap junction protein alpha 3) on Chromosome 13. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Cataract 14 multiple types | ATACCCGACACACTTTTATGTCAATTTCCTCAACTGTTTAAAAATGGCCTCAGGCGTGGCTGCGTTTCCACCTGCCTTCTGCCAGCAACCTCTGGGGCCCTTGCCCACTGAGCCTGCCTCTGGAGGGCAACTGCTCTTTGTCACTTGTCATGAGGCCTGAAGCTTGATATCCTGGGCTTCACATGCAATTTCGGAAACTCAAATGACACTACATAGACTTGCTGTAAATCTTTTTTTAGTGCAGTTTGGCAAATATCCCAAATGAAATTCAACTCTAAGTTAAAAGTATCAAAGAGATAGAGCTAAGTGCTCTGGCCCAG... | ATACCCGACACACTTTTATGTCAATTTCCTCAACTGTTTAAAAATGGCCTCAGGCGTGGCTGCGTTTCCACCTGCCTTCTGCCAGCAACCTCTGGGGCCCTTGCCCACTGAGCCTGCCTCTGGAGGGCAACTGCTCTTTGTCACTTGTCATGAGGCCTGAAGCTTGATATCCTGGGCTTCACATGCAATTTCGGAAACTCAAATGACACTACATAGACTTGCTGTAAATCTTTTTTTAGTGCAGTTTGGCAAATATCCCAAATGAAATTCAACTCTAAGTTAAAAGTATCAAAGAGATAGAGCTAAGTGCTCTGGCCCAG... |
Task1_train_18929 | A variant has been detected on Chromosome 13 in GJB2 (gap junction protein beta 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | TTCGAGACCAGACTGGGCAATATAGTGGGACCTCGTTTCTACAAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACG... | TTCGAGACCAGACTGGGCAATATAGTGGGACCTCGTTTCTACAAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACG... |
Task1_train_18930 | A variant was discovered on Chromosome 13, affecting GJB2 (gap junction protein beta 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Palmoplantar keratoderma-deafness syndrome | AAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAA... | AAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAA... |
Task1_train_18931 | A variant on Chromosome 13 in gene GJB2 (gap junction protein beta 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Mutilating keratoderma | AAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAA... | AAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAA... |
Task1_train_18932 | A mutation on Chromosome 13 affecting GJB2 (gap junction protein beta 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Ichthyosis, hystrix-like, with hearing loss | AAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAA... | AAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAA... |
Task1_train_18933 | A sequence alteration has been identified in GJB2 (gap junction protein beta 2) on Chromosome 13. Is it disease-inducing or harmless? | Pathogenic; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome | AAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAA... | AAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAA... |
Task1_train_18934 | The variant affects gene GJB2 (gap junction protein beta 2), which is on Chromosome 13. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Knuckle pads, deafness AND leukonychia syndrome | AAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAA... | AAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAA... |
Task1_train_18935 | Here is a variant affecting GJB2 (gap junction protein beta 2) on Chromosome 13. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 3A | AAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAA... | AAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAA... |
Task1_train_18936 | Given this variant in gene GJB2 (gap junction protein beta 2) on Chromosome 13, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 1A | AAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAA... | AAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAA... |
Task1_train_18937 | Here is a variant affecting GJB2 (gap junction protein beta 2) on Chromosome 13. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 1A | AAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAA... | AAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAA... |
Task1_train_18938 | This is a variant in GJB2 (gap junction protein beta 2), located on Chromosome 13. Is this mutation a likely cause of disease or not? | Pathogenic; Mutilating keratoderma | AAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAA... | AAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAA... |
Task1_train_18939 | This alteration occurs within gene GJB2 (gap junction protein beta 2) located on Chromosome 13. Is it associated with a disease or is it a benign variant? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 3A | TAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAG... | TAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAG... |
Task1_train_18940 | The gene GJB2 (gap junction protein beta 2) on Chromosome 13 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Nonsyndromic genetic hearing loss | ACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGG... | ACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGG... |
Task1_train_18941 | This variant lies on Chromosome 13 and affects the gene GJB2 (gap junction protein beta 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 1A | TCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGG... | TCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGG... |
Task1_train_18942 | Here’s a variant in GJB2 (gap junction protein beta 2) located on Chromosome 13. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Palmoplantar keratoderma-deafness syndrome | TCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGG... | TCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGG... |
Task1_train_18943 | The gene GJB2 (gap junction protein beta 2) on Chromosome 13 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome | TCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGG... | TCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGG... |
Task1_train_18944 | Chromosome 13 houses a mutation in gene GJB2 (gap junction protein beta 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Knuckle pads, deafness AND leukonychia syndrome | TCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGG... | TCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGG... |
Task1_train_18945 | Here is a mutation in GJB2 (gap junction protein beta 2) on Chromosome 13. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 3A | TCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGG... | TCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGG... |
Task1_train_18946 | Here is a variant affecting GJB2 (gap junction protein beta 2) on Chromosome 13. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; X-linked mixed hearing loss with perilymphatic gusher | TCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGG... | TCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGG... |
Task1_train_18947 | This sequence change occurs on Chromosome 13, altering GJB2 (gap junction protein beta 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 1A | TCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGG... | TCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGG... |
Task1_train_18948 | This gene mutation involves GJB2 (gap junction protein beta 2) on Chromosome 13. Is it associated with any clinical condition, or is it benign? | Pathogenic; Mutilating keratoderma | TCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGG... | TCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGG... |
Task1_train_18949 | Here’s a variant in GJB2 (gap junction protein beta 2) located on Chromosome 13. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Ichthyosis, hystrix-like, with hearing loss | TCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGG... | TCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGG... |
Task1_train_18950 | This sequence change occurs on Chromosome 13, altering GJB2 (gap junction protein beta 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Rare genetic deafness | TCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGG... | TCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGG... |
Task1_train_18951 | A change on Chromosome 13 affects gene GJB2 (gap junction protein beta 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 1A | ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGA... | ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGA... |
Task1_train_18952 | This is a variant in GJB2 (gap junction protein beta 2), located on Chromosome 13. Is this mutation a likely cause of disease or not? | Pathogenic; Hearing impairment | ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGA... | ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGA... |
Task1_train_18953 | A variant on Chromosome 13 in gene GJB2 (gap junction protein beta 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Palmoplantar keratoderma-deafness syndrome | ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGA... | ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGA... |
Task1_train_18954 | An alteration has been detected in GJB2 (gap junction protein beta 2) on Chromosome 13. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Knuckle pads, deafness AND leukonychia syndrome | ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGA... | ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGA... |
Task1_train_18955 | This mutation is located in gene GJB2 (gap junction protein beta 2) on Chromosome 13. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Mutilating keratoderma | ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGA... | ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGA... |
Task1_train_18956 | A mutation found in GJB2 (gap junction protein beta 2) on Chromosome 13 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Ichthyosis, hystrix-like, with hearing loss | ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGA... | ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGA... |
Task1_train_18957 | This genomic variant is located on Chromosome 13, within the GJB2 (gap junction protein beta 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Palmoplantar keratoderma-deafness syndrome | ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGA... | ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGA... |
Task1_train_18958 | With a mutation on Chromosome 13 in gene GJB2 (gap junction protein beta 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Knuckle pads, deafness AND leukonychia syndrome | ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGA... | ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGA... |
Task1_train_18959 | This gene mutation involves GJB2 (gap junction protein beta 2) on Chromosome 13. Is it associated with any clinical condition, or is it benign? | Pathogenic; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome | ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGA... | ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGA... |
Task1_train_18960 | Assess the clinical impact of this variant on gene GJB2 (gap junction protein beta 2), found on Chromosome 13. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Mutilating keratoderma | ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGA... | ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGA... |
Task1_train_18961 | A variant was discovered in gene GJB2 (gap junction protein beta 2), Chromosome 13. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 3A | ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGA... | ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGA... |
Task1_train_18962 | Located on Chromosome 13, this mutation impacts GJB2 (gap junction protein beta 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 1A | ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGA... | ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGA... |
Task1_train_18963 | A genomic change on Chromosome 13 affects GJB2 (gap junction protein beta 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Rare genetic deafness | ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGA... | ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGA... |
Task1_train_18964 | This mutation is located in gene GJB2 (gap junction protein beta 2) on Chromosome 13. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Nonsyndromic genetic hearing loss | ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGA... | ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGA... |
Task1_train_18965 | Here’s a variant in GJB2 (gap junction protein beta 2) located on Chromosome 13. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 3A | ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGA... | ATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGA... |
Task1_train_18966 | Gene GJB2 (gap junction protein beta 2) on Chromosome 13 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Rare genetic deafness | TGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAA... | TGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAA... |
Task1_train_18967 | Mutation context: Chromosome 13, Gene GJB2 (gap junction protein beta 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome | AGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATT... | AGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATT... |
Task1_train_18968 | Consider a variant on Chromosome 13 in gene GJB2 (gap junction protein beta 2). Determine its clinical classification and disease relevance. | Pathogenic; not specified | CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGA... | CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGA... |
Task1_train_18969 | Located on Chromosome 13, this mutation impacts GJB2 (gap junction protein beta 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 1A | CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGA... | CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGA... |
Task1_train_18970 | This genomic variant is located on Chromosome 13, within the GJB2 (gap junction protein beta 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Rare genetic deafness | CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGA... | CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGA... |
Task1_train_18971 | This alteration in GJB2 (gap junction protein beta 2) on Chromosome 13 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Ichthyosis, hystrix-like, with hearing loss | CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGA... | CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGA... |
Task1_train_18972 | Located on Chromosome 13, this mutation impacts GJB2 (gap junction protein beta 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 3A | CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGA... | CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGA... |
Task1_train_18973 | A mutation on Chromosome 13 affecting GJB2 (gap junction protein beta 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; X-linked mixed hearing loss with perilymphatic gusher | CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGA... | CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGA... |
Task1_train_18974 | A mutation in GJB2 (gap junction protein beta 2), located on Chromosome 13, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome | CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGA... | CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGA... |
Task1_train_18975 | This gene mutation involves GJB2 (gap junction protein beta 2) on Chromosome 13. Is it associated with any clinical condition, or is it benign? | Pathogenic; Palmoplantar keratoderma-deafness syndrome | CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGA... | CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGA... |
Task1_train_18976 | Here’s a variant in GJB2 (gap junction protein beta 2) located on Chromosome 13. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Knuckle pads, deafness AND leukonychia syndrome | CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGA... | CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGA... |
Task1_train_18977 | A genomic change on Chromosome 13 affects GJB2 (gap junction protein beta 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Mutilating keratoderma | CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGA... | CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGA... |
Task1_train_18978 | A mutation found in GJB2 (gap junction protein beta 2) on Chromosome 13 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 1A | CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGA... | CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGA... |
Task1_train_18979 | This variant affects gene GJB2 (gap junction protein beta 2) located on Chromosome 13. Evaluate its biological effect and specify any disease association. | Pathogenic; GJB2-related disorder | CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGA... | CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGA... |
Task1_train_18980 | A sequence alteration has been identified in GJB2 (gap junction protein beta 2) on Chromosome 13. Is it disease-inducing or harmless? | Pathogenic; Nonsyndromic genetic hearing loss | CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGA... | CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGA... |
Task1_train_18981 | Here is a variant affecting GJB2 (gap junction protein beta 2) on Chromosome 13. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 1A | CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGA... | CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGA... |
Task1_train_18982 | An alteration has been detected in GJB2 (gap junction protein beta 2) on Chromosome 13. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hearing impairment | CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGA... | CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGA... |
Task1_train_18983 | A variant was discovered in gene GJB2 (gap junction protein beta 2), Chromosome 13. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; GJB2-related disorder | CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGA... | CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGA... |
Task1_train_18984 | Mutation context: Chromosome 13, Gene GJB2 (gap junction protein beta 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 3A | CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGA... | CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGA... |
Task1_train_18985 | The gene GJB2 (gap junction protein beta 2) on Chromosome 13 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 1A | CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGA... | CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGA... |
Task1_train_18986 | Here is a genetic alteration in GJB2 (gap junction protein beta 2) on Chromosome 13. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Progressive sensorineural hearing impairment | CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGA... | CTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGA... |
Task1_train_18987 | A variant has been detected on Chromosome 13 in GJB2 (gap junction protein beta 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 1A | CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAA... | CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAA... |
Task1_train_18988 | Consider this mutation in GJB2 (gap junction protein beta 2) on Chromosome 13. Is this a benign change or a disease-causing variant? | Pathogenic; Hearing impairment | CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAA... | CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAA... |
Task1_train_18989 | This is a variant in GJB2 (gap junction protein beta 2), located on Chromosome 13. Is this mutation a likely cause of disease or not? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 1B | CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAA... | CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAA... |
Task1_train_18990 | A variant was discovered on Chromosome 13, affecting GJB2 (gap junction protein beta 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 1A | CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAA... | CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAA... |
Task1_train_18991 | A change on Chromosome 13 affects gene GJB2 (gap junction protein beta 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Ichthyosis, hystrix-like, with hearing loss | CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAA... | CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAA... |
Task1_train_18992 | This mutation is located in gene GJB2 (gap junction protein beta 2) on Chromosome 13. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Palmoplantar keratoderma-deafness syndrome | CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAA... | CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAA... |
Task1_train_18993 | This variant lies on Chromosome 13 and affects the gene GJB2 (gap junction protein beta 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Knuckle pads, deafness AND leukonychia syndrome | CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAA... | CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAA... |
Task1_train_18994 | Assess the clinical impact of this variant on gene GJB2 (gap junction protein beta 2), found on Chromosome 13. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome | CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAA... | CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAA... |
Task1_train_18995 | The gene GJB2 (gap junction protein beta 2) on Chromosome 13 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Mutilating keratoderma | CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAA... | CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAA... |
Task1_train_18996 | A sequence alteration has been identified in GJB2 (gap junction protein beta 2) on Chromosome 13. Is it disease-inducing or harmless? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 3A | CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAA... | CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAA... |
Task1_train_18997 | A genomic change on Chromosome 13 affects GJB2 (gap junction protein beta 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 1A | CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAA... | CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAA... |
Task1_train_18998 | This mutation is located in gene GJB2 (gap junction protein beta 2) on Chromosome 13. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Rare genetic deafness | CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAA... | CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAA... |
Task1_train_18999 | The gene GJB2 (gap junction protein beta 2) is located on Chromosome 13, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Nonsyndromic genetic hearing loss | CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAA... | CTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAA... |
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