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_0 | The variant affects gene PERM1 (PPARGC1 and ESRR induced regulator, muscle 1), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Renal tubular epithelial cell apoptosis | TGGAGGCCAGGGGGGCCAGTAGGGAGTTGGGGAGATGGGACTGGGGAGGGAGAGCAGGGGGACATGGGGGGCTGCACAGTGACAGGCCGCCTCCAAGCTCCCTGCCTGGGGCTGTGCCCGGCTCTCAGACTTGCGGTTTGGGGTTCCAGGTCTCCTCTGCCAGGGAAGGTTCGCCCGAACCCTGGCTGCCTCTGACAGGTGAGTAAGGATCCTGCCTCCTGAGGTGAGTGCCTGTTGCCTCCCACAGGCTGACACATCTCTGCCTTCCCTACCAGATGGTCGGTCCCCCAGGAGGAGCCGGGACCCCGGCTACGACCACC... | TGGAGGCCAGGGGGGCCAGTAGGGAGTTGGGGAGATGGGACTGGGGAGGGAGAGCAGGGGGACATGGGGGGCTGCACAGTGACAGGCCGCCTCCAAGCTCCCTGCCTGGGGCTGTGCCCGGCTCTCAGACTTGCGGTTTGGGGTTCCAGGTCTCCTCTGCCAGGGAAGGTTCGCCCGAACCCTGGCTGCCTCTGACAGGTGAGTAAGGATCCTGCCTCCTGAGGTGAGTGCCTGTTGCCTCCCACAGGCTGACACATCTCTGCCTTCCCTACCAGATGGTCGGTCCCCCAGGAGGAGCCGGGACCCCGGCTACGACCACC... |
Task1_train_1 | This alteration in PERM1 (PPARGC1 and ESRR induced regulator, muscle 1) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Neutrophil inclusion bodies | TGGAGGCCAGGGGGGCCAGTAGGGAGTTGGGGAGATGGGACTGGGGAGGGAGAGCAGGGGGACATGGGGGGCTGCACAGTGACAGGCCGCCTCCAAGCTCCCTGCCTGGGGCTGTGCCCGGCTCTCAGACTTGCGGTTTGGGGTTCCAGGTCTCCTCTGCCAGGGAAGGTTCGCCCGAACCCTGGCTGCCTCTGACAGGTGAGTAAGGATCCTGCCTCCTGAGGTGAGTGCCTGTTGCCTCCCACAGGCTGACACATCTCTGCCTTCCCTACCAGATGGTCGGTCCCCCAGGAGGAGCCGGGACCCCGGCTACGACCACC... | TGGAGGCCAGGGGGGCCAGTAGGGAGTTGGGGAGATGGGACTGGGGAGGGAGAGCAGGGGGACATGGGGGGCTGCACAGTGACAGGCCGCCTCCAAGCTCCCTGCCTGGGGCTGTGCCCGGCTCTCAGACTTGCGGTTTGGGGTTCCAGGTCTCCTCTGCCAGGGAAGGTTCGCCCGAACCCTGGCTGCCTCTGACAGGTGAGTAAGGATCCTGCCTCCTGAGGTGAGTGCCTGTTGCCTCCCACAGGCTGACACATCTCTGCCTTCCCTACCAGATGGTCGGTCCCCCAGGAGGAGCCGGGACCCCGGCTACGACCACC... |
Task1_train_2 | Gene AGRN (agrin) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Congenital myasthenic syndrome 8 | AGCAGGGTGGGGGCAAGGATTGGGGGTGGGGCTAAGCCACCATCAGGCTTTGAGTTGGGGGCAGGAGCCCGGATTAAGGCGGGGTTTCGGCCAGATGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGACACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCACCTCGTGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCGGAGGTTGCGGTGAGCCAGGAT... | AGCAGGGTGGGGGCAAGGATTGGGGGTGGGGCTAAGCCACCATCAGGCTTTGAGTTGGGGGCAGGAGCCCGGATTAAGGCGGGGTTTCGGCCAGATGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGACACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCACCTCGTGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCGGAGGTTGCGGTGAGCCAGGAT... |
Task1_train_3 | The variant affects gene AGRN (agrin), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Congenital myasthenic syndrome 8 | TTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGACACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCACCTCGTGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCGGAGGTTGCGGTGAGCCAGGATCGCGCCACTGCACTCCAGCCGGGGCAAAAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGCAGGGGGCGGTTTCAGGGATAAAAGTGGGGAATCCTCGGAGCTTTTCCAGCCGGCC... | TTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGACACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCACCTCGTGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCGGAGGTTGCGGTGAGCCAGGATCGCGCCACTGCACTCCAGCCGGGGCAAAAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGCAGGGGGCGGTTTCAGGGATAAAAGTGGGGAATCCTCGGAGCTTTTCCAGCCGGCC... |
Task1_train_4 | The gene TNFRSF4 (TNF receptor superfamily member 4) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Combined immunodeficiency due to OX40 deficiency | CATGAGGCACTCACCAGGGGGCTTGTGGGCATCGGGGGGCAGCCTCTGGTCCCTCCGGAGCAGGTACAGGGCCAGCAGGATGGCCAGGGGGCCCAGCAGCCCCAGCACCAGGCCCAGGCCCAGGATGGCGGCAACCGCACGGCCTGCAGGAAGGGGTCTGCTGGGTGGGGTCCACAGGAGGGGCCCCCATGCCGCCCTCCCCTTCTCCTATTCGGGTTGGGGGCCCCGCTGGGCTGGGCCAGGCGCCCTTACCCCCGGGGACCTCCACGGGCCGGGTGGAGGGTCCCTGTGAGGTTCTGGGCCAGGCTTCAGTGGGCTGG... | CATGAGGCACTCACCAGGGGGCTTGTGGGCATCGGGGGGCAGCCTCTGGTCCCTCCGGAGCAGGTACAGGGCCAGCAGGATGGCCAGGGGGCCCAGCAGCCCCAGCACCAGGCCCAGGCCCAGGATGGCGGCAACCGCACGGCCTGCAGGAAGGGGTCTGCTGGGTGGGGTCCACAGGAGGGGCCCCCATGCCGCCCTCCCCTTCTCCTATTCGGGTTGGGGGCCCCGCTGGGCTGGGCCAGGCGCCCTTACCCCCGGGGACCTCCACGGGCCGGGTGGAGGGTCCCTGTGAGGTTCTGGGCCAGGCTTCAGTGGGCTGG... |
Task1_train_5 | The gene B3GALT6 (beta-1,3-galactosyltransferase 6) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Ehlers-Danlos syndrome, spondylodysplastic type, 2 | ATTCAGCTTCACTGTTCTGGCACCTGCCACTCTGCCTGCACACAGTAGGCGCTCAACGAATGCTACCCTGGGTAATATTAAACGAAAAAATGCTGCCTCCAGGTATCGAGAAACACCAGTGGGGCCGCCATGAAAGTGGTCCTGAAGTCAGTGCAGTCTGCCACAAACCAAGAGGGGTACAAGCCTGAGTTCCCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCT... | ATTCAGCTTCACTGTTCTGGCACCTGCCACTCTGCCTGCACACAGTAGGCGCTCAACGAATGCTACCCTGGGTAATATTAAACGAAAAAATGCTGCCTCCAGGTATCGAGAAACACCAGTGGGGCCGCCATGAAAGTGGTCCTGAAGTCAGTGCAGTCTGCCACAAACCAAGAGGGGTACAAGCCTGAGTTCCCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCT... |
Task1_train_6 | This mutation is located in gene B3GALT6 (beta-1,3-galactosyltransferase 6) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Ehlers-Danlos syndrome, spondylodysplastic type, 2 | ATTCAGCTTCACTGTTCTGGCACCTGCCACTCTGCCTGCACACAGTAGGCGCTCAACGAATGCTACCCTGGGTAATATTAAACGAAAAAATGCTGCCTCCAGGTATCGAGAAACACCAGTGGGGCCGCCATGAAAGTGGTCCTGAAGTCAGTGCAGTCTGCCACAAACCAAGAGGGGTACAAGCCTGAGTTCCCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCT... | ATTCAGCTTCACTGTTCTGGCACCTGCCACTCTGCCTGCACACAGTAGGCGCTCAACGAATGCTACCCTGGGTAATATTAAACGAAAAAATGCTGCCTCCAGGTATCGAGAAACACCAGTGGGGCCGCCATGAAAGTGGTCCTGAAGTCAGTGCAGTCTGCCACAAACCAAGAGGGGTACAAGCCTGAGTTCCCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCT... |
Task1_train_7 | Gene B3GALT6 (beta-1,3-galactosyltransferase 6), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Spondyloepimetaphyseal dysplasia with joint laxity | ATTCAGCTTCACTGTTCTGGCACCTGCCACTCTGCCTGCACACAGTAGGCGCTCAACGAATGCTACCCTGGGTAATATTAAACGAAAAAATGCTGCCTCCAGGTATCGAGAAACACCAGTGGGGCCGCCATGAAAGTGGTCCTGAAGTCAGTGCAGTCTGCCACAAACCAAGAGGGGTACAAGCCTGAGTTCCCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCT... | ATTCAGCTTCACTGTTCTGGCACCTGCCACTCTGCCTGCACACAGTAGGCGCTCAACGAATGCTACCCTGGGTAATATTAAACGAAAAAATGCTGCCTCCAGGTATCGAGAAACACCAGTGGGGCCGCCATGAAAGTGGTCCTGAAGTCAGTGCAGTCTGCCACAAACCAAGAGGGGTACAAGCCTGAGTTCCCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCT... |
Task1_train_8 | Consider this mutation in B3GALT6 (beta-1,3-galactosyltransferase 6) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Spondyloepimetaphyseal dysplasia with joint laxity | TTCAGCTTCACTGTTCTGGCACCTGCCACTCTGCCTGCACACAGTAGGCGCTCAACGAATGCTACCCTGGGTAATATTAAACGAAAAAATGCTGCCTCCAGGTATCGAGAAACACCAGTGGGGCCGCCATGAAAGTGGTCCTGAAGTCAGTGCAGTCTGCCACAAACCAAGAGGGGTACAAGCCTGAGTTCCCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTC... | TTCAGCTTCACTGTTCTGGCACCTGCCACTCTGCCTGCACACAGTAGGCGCTCAACGAATGCTACCCTGGGTAATATTAAACGAAAAAATGCTGCCTCCAGGTATCGAGAAACACCAGTGGGGCCGCCATGAAAGTGGTCCTGAAGTCAGTGCAGTCTGCCACAAACCAAGAGGGGTACAAGCCTGAGTTCCCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTC... |
Task1_train_9 | Assess the clinical impact of this variant on gene B3GALT6 (beta-1,3-galactosyltransferase 6), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Ehlers-Danlos syndrome, spondylodysplastic type, 2 | TTCAGCTTCACTGTTCTGGCACCTGCCACTCTGCCTGCACACAGTAGGCGCTCAACGAATGCTACCCTGGGTAATATTAAACGAAAAAATGCTGCCTCCAGGTATCGAGAAACACCAGTGGGGCCGCCATGAAAGTGGTCCTGAAGTCAGTGCAGTCTGCCACAAACCAAGAGGGGTACAAGCCTGAGTTCCCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTC... | TTCAGCTTCACTGTTCTGGCACCTGCCACTCTGCCTGCACACAGTAGGCGCTCAACGAATGCTACCCTGGGTAATATTAAACGAAAAAATGCTGCCTCCAGGTATCGAGAAACACCAGTGGGGCCGCCATGAAAGTGGTCCTGAAGTCAGTGCAGTCTGCCACAAACCAAGAGGGGTACAAGCCTGAGTTCCCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTC... |
Task1_train_10 | Gene B3GALT6 (beta-1,3-galactosyltransferase 6), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Spondyloepimetaphyseal dysplasia with joint laxity | TCAGCTTCACTGTTCTGGCACCTGCCACTCTGCCTGCACACAGTAGGCGCTCAACGAATGCTACCCTGGGTAATATTAAACGAAAAAATGCTGCCTCCAGGTATCGAGAAACACCAGTGGGGCCGCCATGAAAGTGGTCCTGAAGTCAGTGCAGTCTGCCACAAACCAAGAGGGGTACAAGCCTGAGTTCCCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCC... | TCAGCTTCACTGTTCTGGCACCTGCCACTCTGCCTGCACACAGTAGGCGCTCAACGAATGCTACCCTGGGTAATATTAAACGAAAAAATGCTGCCTCCAGGTATCGAGAAACACCAGTGGGGCCGCCATGAAAGTGGTCCTGAAGTCAGTGCAGTCTGCCACAAACCAAGAGGGGTACAAGCCTGAGTTCCCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCC... |
Task1_train_11 | Located on Chromosome 1, this mutation impacts B3GALT6 (beta-1,3-galactosyltransferase 6). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Ehlers-Danlos syndrome, spondylodysplastic type, 2 | TCAGCTTCACTGTTCTGGCACCTGCCACTCTGCCTGCACACAGTAGGCGCTCAACGAATGCTACCCTGGGTAATATTAAACGAAAAAATGCTGCCTCCAGGTATCGAGAAACACCAGTGGGGCCGCCATGAAAGTGGTCCTGAAGTCAGTGCAGTCTGCCACAAACCAAGAGGGGTACAAGCCTGAGTTCCCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCC... | TCAGCTTCACTGTTCTGGCACCTGCCACTCTGCCTGCACACAGTAGGCGCTCAACGAATGCTACCCTGGGTAATATTAAACGAAAAAATGCTGCCTCCAGGTATCGAGAAACACCAGTGGGGCCGCCATGAAAGTGGTCCTGAAGTCAGTGCAGTCTGCCACAAACCAAGAGGGGTACAAGCCTGAGTTCCCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCC... |
Task1_train_12 | Gene B3GALT6 (beta-1,3-galactosyltransferase 6), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | CCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGA... | CCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGA... |
Task1_train_13 | Assess the clinical impact of this variant on gene B3GALT6 (beta-1,3-galactosyltransferase 6), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Ehlers-Danlos syndrome, spondylodysplastic type, 2 | GAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGC... | GAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGC... |
Task1_train_14 | The following genetic variant occurs in B3GALT6 (beta-1,3-galactosyltransferase 6) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Spondyloepimetaphyseal dysplasia with joint laxity | GAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGC... | GAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGC... |
Task1_train_15 | A variant on Chromosome 1 in gene B3GALT6 (beta-1,3-galactosyltransferase 6) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | TGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGA... | TGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGA... |
Task1_train_16 | Consider this mutation in B3GALT6 (beta-1,3-galactosyltransferase 6) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Al-Gazali syndrome | GCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACC... | GCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACC... |
Task1_train_17 | The variant affects gene B3GALT6 (beta-1,3-galactosyltransferase 6), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | TCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAA... | TCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAA... |
Task1_train_18 | With a mutation on Chromosome 1 in gene B3GALT6 (beta-1,3-galactosyltransferase 6), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Al-Gazali syndrome | GTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCT... | GTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCT... |
Task1_train_19 | Assess the clinical impact of this variant on gene B3GALT6 (beta-1,3-galactosyltransferase 6), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | TCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTG... | TCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTG... |
Task1_train_20 | This is a variant in B3GALT6 (beta-1,3-galactosyltransferase 6), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures | GGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGC... | GGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGC... |
Task1_train_21 | An alteration has been detected in B3GALT6 (beta-1,3-galactosyltransferase 6) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Ehlers-Danlos syndrome, spondylodysplastic type, 2 | GTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGG... | GTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGG... |
Task1_train_22 | This sequence change occurs on Chromosome 1, altering B3GALT6 (beta-1,3-galactosyltransferase 6). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | ATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCT... | ATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCT... |
Task1_train_23 | A mutation in B3GALT6 (beta-1,3-galactosyltransferase 6), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Ehlers-Danlos syndrome, spondylodysplastic type, 2 | CGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACA... | CGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACA... |
Task1_train_24 | A variant was discovered in gene B3GALT6 (beta-1,3-galactosyltransferase 6), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Spondyloepimetaphyseal dysplasia with joint laxity | CGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACA... | CGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACA... |
Task1_train_25 | A mutation in INTS11 (integrator complex subunit 11), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not specified | AGGGGGGAAGAACTTCTGCCAGCCCCAGACTTCTGTGGCAGAGCAGCAGGTACAGGACTGGGGGTCTCTGGCACCCGCACCAGCCACGTTCCCAGACCCTGCACCAGGACCCTAGGTGAGGGCCCAGGGCAAGCCCCTCTGGGATGGCCAGGCTACCTGCCCAGCCTCCAGGGTCCTGCTGCCTCCTTGCCCAAGCATTGTTTCTCTGGTTTTAAGCCCCTCCAATGGGCCTCACTGGGGGCAGGAGATCAGCCAGGGCCCCTGGTGGCCAAGCTAGTGGGAACCAGGCTCGTCTTTAGGCCCACCCTGTCACTCTCCCG... | AGGGGGGAAGAACTTCTGCCAGCCCCAGACTTCTGTGGCAGAGCAGCAGGTACAGGACTGGGGGTCTCTGGCACCCGCACCAGCCACGTTCCCAGACCCTGCACCAGGACCCTAGGTGAGGGCCCAGGGCAAGCCCCTCTGGGATGGCCAGGCTACCTGCCCAGCCTCCAGGGTCCTGCTGCCTCCTTGCCCAAGCATTGTTTCTCTGGTTTTAAGCCCCTCCAATGGGCCTCACTGGGGGCAGGAGATCAGCCAGGGCCCCTGGTGGCCAAGCTAGTGGGAACCAGGCTCGTCTTTAGGCCCACCCTGTCACTCTCCCG... |
Task1_train_26 | This genomic variant is located on Chromosome 1, within the INTS11 (integrator complex subunit 11) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities | GAGGATGACGGCTGTGCTGGTGGGTCACGGGCGGCTCTGGGTCACAGGTACGGAGGATGACGGCTGTGCTGGTGGGTCACGGGCGGCTCTGGGTCACAGGTGGCTCTGGGTCACAGGTACGGAGGATGACGGCTGTGCTGGTGGCCGTGGGGCTGGGGGCTTTGGCACCTGCCCAGGTGAAGACGATTCTGGAGAGCCAAGATCCCCTGGGCAAGCACCAGACACGTGTAGCCCCAGCCCACGGCTTATTCCTCAAGTCAGTGCTGTACGGGAACCTCGGTAAGAAAAACAGGCACGAGAAGCTCCTGTCATGTGCCCAG... | GAGGATGACGGCTGTGCTGGTGGGTCACGGGCGGCTCTGGGTCACAGGTACGGAGGATGACGGCTGTGCTGGTGGGTCACGGGCGGCTCTGGGTCACAGGTGGCTCTGGGTCACAGGTACGGAGGATGACGGCTGTGCTGGTGGCCGTGGGGCTGGGGGCTTTGGCACCTGCCCAGGTGAAGACGATTCTGGAGAGCCAAGATCCCCTGGGCAAGCACCAGACACGTGTAGCCCCAGCCCACGGCTTATTCCTCAAGTCAGTGCTGTACGGGAACCTCGGTAAGAAAAACAGGCACGAGAAGCTCCTGTCATGTGCCCAG... |
Task1_train_27 | This alteration occurs within gene INTS11 (integrator complex subunit 11) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities | ACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTCAAGGTGAGCTGAGATCGCACCACTGCACTACAGCCTGGGCAATGAGAGCGAAACTCCATCTCAAAAAAAAAAGAAAAAAAAAAAGAATTCAACAGATGAATTTAACACCATATGACACATAACCAGAAGAGAATCCATGAACTGAAAGACACCAGAGGGAATATCCATCAGGAAACAGGAAAGACAAACAGATGACGGAGTTTCAAGAGGTTGAACGTCAGGCTCTCGGGGTCCCTGGAGGAGCAGGAACG... | ACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTCAAGGTGAGCTGAGATCGCACCACTGCACTACAGCCTGGGCAATGAGAGCGAAACTCCATCTCAAAAAAAAAAGAAAAAAAAAAAGAATTCAACAGATGAATTTAACACCATATGACACATAACCAGAAGAGAATCCATGAACTGAAAGACACCAGAGGGAATATCCATCAGGAAACAGGAAAGACAAACAGATGACGGAGTTTCAAGAGGTTGAACGTCAGGCTCTCGGGGTCCCTGGAGGAGCAGGAACG... |
Task1_train_28 | Here’s a variant in INTS11 (integrator complex subunit 11) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not specified | CCCAGCCCAGGAGTTCGAGAGCCTTAGCAACACATACCCATCTCTACAAAAAATACCAAAATAAATTAGCTGGGCGTATGGGCACATGCTTGTAGTCCCAGCTACTTGGGAGGCCGAGGTGGGAGATCACCTCAACCCGGGAGGCCGAGGCTGCAGTGAGCCAAGATCACACTCCAGCCTGGGTAACAAAGTGAGACACTGTCAAAAAAAAAAAAAAATTAAAGTTTCACAACAAAAAAGATAAACATACTTCATTTTGACAAGTTCAATCAGAAAATTAAATGTTCCAAAATACATAGGTACCTAATATAGTTTCAAGA... | CCCAGCCCAGGAGTTCGAGAGCCTTAGCAACACATACCCATCTCTACAAAAAATACCAAAATAAATTAGCTGGGCGTATGGGCACATGCTTGTAGTCCCAGCTACTTGGGAGGCCGAGGTGGGAGATCACCTCAACCCGGGAGGCCGAGGCTGCAGTGAGCCAAGATCACACTCCAGCCTGGGTAACAAAGTGAGACACTGTCAAAAAAAAAAAAAAATTAAAGTTTCACAACAAAAAAGATAAACATACTTCATTTTGACAAGTTCAATCAGAAAATTAAATGTTCCAAAATACATAGGTACCTAATATAGTTTCAAGA... |
Task1_train_29 | The gene INTS11 (integrator complex subunit 11) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities | TCAATGCCGCTCGGACAGAGCCTGGTGGGTTCATAAGCCGGTGCATACCCCCACCCTGCACGTGCTCTCCCGGGTCGGCGCCCAGTCTGGTCTGGGACCCGCATCCTCGCGCTGACGCCTCCTGGTGTCCCCACGGTGCTGGACGCAAGAGTGAGGTGGGGTGGGCTCACCCTGAGGCCCCAGCCTTCCAGAAACTGTGTAGAACGGGCGGAGGGCATGGTTGGTGTGGGGGTGGGCAGTGACTGTGCCAGCTGTGGCCCTGGGAACCTGACCTGGACCGTCTGGTGGAGGTGGACAGCCACCACCTTCTTCATGCAGTC... | TCAATGCCGCTCGGACAGAGCCTGGTGGGTTCATAAGCCGGTGCATACCCCCACCCTGCACGTGCTCTCCCGGGTCGGCGCCCAGTCTGGTCTGGGACCCGCATCCTCGCGCTGACGCCTCCTGGTGTCCCCACGGTGCTGGACGCAAGAGTGAGGTGGGGTGGGCTCACCCTGAGGCCCCAGCCTTCCAGAAACTGTGTAGAACGGGCGGAGGGCATGGTTGGTGTGGGGGTGGGCAGTGACTGTGCCAGCTGTGGCCCTGGGAACCTGACCTGGACCGTCTGGTGGAGGTGGACAGCCACCACCTTCTTCATGCAGTC... |
Task1_train_30 | Assess the clinical impact of this variant on gene ATAD3A (ATPase family AAA domain containing 3A), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal | AGAACTGTCTGTGAGCACCAGCGCTCGCCCTGCACTCCACAGAGGGGGTGCCTGGAGGAGAGCCTCGTGCCCTGTGGGTGTGAATTCACGCGCTGGGACGCACGTCCCTGGCACAGGGTCACACCAAAGTGGTGAATGATTGTTCTCACTCTAATAACCGAGAGGCCACACGGGCACCTGACCTGCTCTTTCCCCTCTCCTCCTCCCCAGAGTCACTGGGGGTAGGAACTGTCAATGAGCCATTTTCAGGGGAGGGAGTGGCCTCAGCTTAATCCAGCCAAAGGTCCCCTCGGGAGGAAACAGGCAGAGCTCCTCACCGT... | AGAACTGTCTGTGAGCACCAGCGCTCGCCCTGCACTCCACAGAGGGGGTGCCTGGAGGAGAGCCTCGTGCCCTGTGGGTGTGAATTCACGCGCTGGGACGCACGTCCCTGGCACAGGGTCACACCAAAGTGGTGAATGATTGTTCTCACTCTAATAACCGAGAGGCCACACGGGCACCTGACCTGCTCTTTCCCCTCTCCTCCTCCCCAGAGTCACTGGGGGTAGGAACTGTCAATGAGCCATTTTCAGGGGAGGGAGTGGCCTCAGCTTAATCCAGCCAAAGGTCCCCTCGGGAGGAAACAGGCAGAGCTCCTCACCGT... |
Task1_train_31 | This gene mutation involves ATAD3A (ATPase family AAA domain containing 3A) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Congenital cerebellar hypoplasia | AAGCTGCTACAGGCCACGGCGTCTGGTGGCCTCCCTGGGGAGCCGCGCCGCTCGCCGCCCCCGAGGTGCCTGCTCTCCACAGGTCACTGGGTAGGTGGTTAAGAAAATAAAAGCCAATAAGGAACCGGAAAATGCCCCTAATCCCAGCAATAGCCGCCTGGTCTCCGGGCGGGGCAGGGTTCCAGCTCCGGGCCGGTCCTGGCTGTGCTTTGGGGCAGCTCCGTTTCTGCGTGTTACCGAGCGTGTGTGTGCGCGTTGGTGGCTGTTCCGTGGCTGTGGCAGGTGACCCGATGGCGCTTCCCCTTCCCCTCCGGCAGGTC... | AAGCTGCTACAGGCCACGGCGTCTGGTGGCCTCCCTGGGGAGCCGCGCCGCTCGCCGCCCCCGAGGTGCCTGCTCTCCACAGGTCACTGGGTAGGTGGTTAAGAAAATAAAAGCCAATAAGGAACCGGAAAATGCCCCTAATCCCAGCAATAGCCGCCTGGTCTCCGGGCGGGGCAGGGTTCCAGCTCCGGGCCGGTCCTGGCTGTGCTTTGGGGCAGCTCCGTTTCTGCGTGTTACCGAGCGTGTGTGTGCGCGTTGGTGGCTGTTCCGTGGCTGTGGCAGGTGACCCGATGGCGCTTCCCCTTCCCCTCCGGCAGGTC... |
Task1_train_32 | This variant affects the gene TMEM240 (transmembrane protein 240) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Spinocerebellar ataxia type 21 | GACCCGGGGGCACTGCCTGGCCACGGCTGAGACTCGCAGAGGGTCTGCAGTTCCCACCTGCCTCTCGGAAGCTGCCCTGGGTCGGCGGTCAGTGAGGCTCCGCCTTGGGCTTTCTATTATTAGAAAGTCATTGAGCAACAGCAGTGCTGAGGACGCAGGCAGGGCTGTGGGCACTGCAGGGGCTGCTCCCGGTGTCCACACACGTGCTGGGCTCTGCCGAGGTGCGGGAAGCCTGTGTTTCACGCTCAGGCCATCCTGGAGCCCCTGGTTTGGTCCCTCCCCACCTCGGGGCCCTGGCGTGCATTTGGGGTGGGGGGTTC... | GACCCGGGGGCACTGCCTGGCCACGGCTGAGACTCGCAGAGGGTCTGCAGTTCCCACCTGCCTCTCGGAAGCTGCCCTGGGTCGGCGGTCAGTGAGGCTCCGCCTTGGGCTTTCTATTATTAGAAAGTCATTGAGCAACAGCAGTGCTGAGGACGCAGGCAGGGCTGTGGGCACTGCAGGGGCTGCTCCCGGTGTCCACACACGTGCTGGGCTCTGCCGAGGTGCGGGAAGCCTGTGTTTCACGCTCAGGCCATCCTGGAGCCCCTGGTTTGGTCCCTCCCCACCTCGGGGCCCTGGCGTGCATTTGGGGTGGGGGGTTC... |
Task1_train_33 | A change on Chromosome 1 affects gene TMEM240 (transmembrane protein 240). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not specified | GGCTTTCTATTATTAGAAAGTCATTGAGCAACAGCAGTGCTGAGGACGCAGGCAGGGCTGTGGGCACTGCAGGGGCTGCTCCCGGTGTCCACACACGTGCTGGGCTCTGCCGAGGTGCGGGAAGCCTGTGTTTCACGCTCAGGCCATCCTGGAGCCCCTGGTTTGGTCCCTCCCCACCTCGGGGCCCTGGCGTGCATTTGGGGTGGGGGGTTCCCATGGCGGCCTCCCTCAGCTGCCTCTCTCCCCACTAGGCCACGGCGTATGCCTCCGAGGACGGGGTCCTGACCGAGGCCATGATGGACACCCGCGTGCAAGATGCT... | GGCTTTCTATTATTAGAAAGTCATTGAGCAACAGCAGTGCTGAGGACGCAGGCAGGGCTGTGGGCACTGCAGGGGCTGCTCCCGGTGTCCACACACGTGCTGGGCTCTGCCGAGGTGCGGGAAGCCTGTGTTTCACGCTCAGGCCATCCTGGAGCCCCTGGTTTGGTCCCTCCCCACCTCGGGGCCCTGGCGTGCATTTGGGGTGGGGGGTTCCCATGGCGGCCTCCCTCAGCTGCCTCTCTCCCCACTAGGCCACGGCGTATGCCTCCGAGGACGGGGTCCTGACCGAGGCCATGATGGACACCCGCGTGCAAGATGCT... |
Task1_train_34 | Given this variant in gene TMEM240 (transmembrane protein 240) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Spinocerebellar ataxia type 21 | GGCTTTCTATTATTAGAAAGTCATTGAGCAACAGCAGTGCTGAGGACGCAGGCAGGGCTGTGGGCACTGCAGGGGCTGCTCCCGGTGTCCACACACGTGCTGGGCTCTGCCGAGGTGCGGGAAGCCTGTGTTTCACGCTCAGGCCATCCTGGAGCCCCTGGTTTGGTCCCTCCCCACCTCGGGGCCCTGGCGTGCATTTGGGGTGGGGGGTTCCCATGGCGGCCTCCCTCAGCTGCCTCTCTCCCCACTAGGCCACGGCGTATGCCTCCGAGGACGGGGTCCTGACCGAGGCCATGATGGACACCCGCGTGCAAGATGCT... | GGCTTTCTATTATTAGAAAGTCATTGAGCAACAGCAGTGCTGAGGACGCAGGCAGGGCTGTGGGCACTGCAGGGGCTGCTCCCGGTGTCCACACACGTGCTGGGCTCTGCCGAGGTGCGGGAAGCCTGTGTTTCACGCTCAGGCCATCCTGGAGCCCCTGGTTTGGTCCCTCCCCACCTCGGGGCCCTGGCGTGCATTTGGGGTGGGGGGTTCCCATGGCGGCCTCCCTCAGCTGCCTCTCTCCCCACTAGGCCACGGCGTATGCCTCCGAGGACGGGGTCCTGACCGAGGCCATGATGGACACCCGCGTGCAAGATGCT... |
Task1_train_35 | A change on Chromosome 1 affects gene GNB1 (G protein subunit beta 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Inborn genetic diseases | TAAAAATTTCACATTGAATGATAATTAAAATACAATATAGGCTGGGAGTGGTGGCTCAAGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGCAGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTGGCCAGGCGTGGTGGTGCACGCCTGTAATCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTTGAGGTTTCAGTGAGCTGAGATTGCACCACTGTACTACAGCCTGGGTGACAGAGCAGGACTCCATCTTAAAA... | TAAAAATTTCACATTGAATGATAATTAAAATACAATATAGGCTGGGAGTGGTGGCTCAAGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGCAGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTGGCCAGGCGTGGTGGTGCACGCCTGTAATCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTTGAGGTTTCAGTGAGCTGAGATTGCACCACTGTACTACAGCCTGGGTGACAGAGCAGGACTCCATCTTAAAA... |
Task1_train_36 | Here is a genetic alteration in GNB1 (G protein subunit beta 1) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | AAAAATTTCACATTGAATGATAATTAAAATACAATATAGGCTGGGAGTGGTGGCTCAAGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGCAGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTGGCCAGGCGTGGTGGTGCACGCCTGTAATCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTTGAGGTTTCAGTGAGCTGAGATTGCACCACTGTACTACAGCCTGGGTGACAGAGCAGGACTCCATCTTAAAAA... | AAAAATTTCACATTGAATGATAATTAAAATACAATATAGGCTGGGAGTGGTGGCTCAAGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGCAGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTGGCCAGGCGTGGTGGTGCACGCCTGTAATCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTTGAGGTTTCAGTGAGCTGAGATTGCACCACTGTACTACAGCCTGGGTGACAGAGCAGGACTCCATCTTAAAAA... |
Task1_train_37 | This sequence change occurs on Chromosome 1, altering GNB1 (G protein subunit beta 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | TTTCACATTGAATGATAATTAAAATACAATATAGGCTGGGAGTGGTGGCTCAAGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGCAGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTGGCCAGGCGTGGTGGTGCACGCCTGTAATCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTTGAGGTTTCAGTGAGCTGAGATTGCACCACTGTACTACAGCCTGGGTGACAGAGCAGGACTCCATCTTAAAAAAAAAA... | TTTCACATTGAATGATAATTAAAATACAATATAGGCTGGGAGTGGTGGCTCAAGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGCAGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTGGCCAGGCGTGGTGGTGCACGCCTGTAATCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTTGAGGTTTCAGTGAGCTGAGATTGCACCACTGTACTACAGCCTGGGTGACAGAGCAGGACTCCATCTTAAAAAAAAAA... |
Task1_train_38 | This alteration in GNB1 (G protein subunit beta 1) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Intellectual disability, autosomal dominant 42 | ATTGAATGATAATTAAAATACAATATAGGCTGGGAGTGGTGGCTCAAGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGCAGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTGGCCAGGCGTGGTGGTGCACGCCTGTAATCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTTGAGGTTTCAGTGAGCTGAGATTGCACCACTGTACTACAGCCTGGGTGACAGAGCAGGACTCCATCTTAAAAAAAAAAAAAAAA... | ATTGAATGATAATTAAAATACAATATAGGCTGGGAGTGGTGGCTCAAGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGCAGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTGGCCAGGCGTGGTGGTGCACGCCTGTAATCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTTGAGGTTTCAGTGAGCTGAGATTGCACCACTGTACTACAGCCTGGGTGACAGAGCAGGACTCCATCTTAAAAAAAAAAAAAAAA... |
Task1_train_39 | The gene GNB1 (G protein subunit beta 1) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Intellectual disability, autosomal dominant 42 | ATTCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGCAGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTGGCCAGGCGTGGTGGTGCACGCCTGTAATCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTTGAGGTTTCAGTGAGCTGAGATTGCACCACTGTACTACAGCCTGGGTGACAGAGCAGGACTCCATCTTAAAAAAAAAAAAAAAAGACAATATGAAACAAATGTGTGTGATGTGGCTAAAGCCATGCTTAGAGGGAAAC... | ATTCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGCAGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTGGCCAGGCGTGGTGGTGCACGCCTGTAATCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTTGAGGTTTCAGTGAGCTGAGATTGCACCACTGTACTACAGCCTGGGTGACAGAGCAGGACTCCATCTTAAAAAAAAAAAAAAAAGACAATATGAAACAAATGTGTGTGATGTGGCTAAAGCCATGCTTAGAGGGAAAC... |
Task1_train_40 | This gene mutation involves GNB1 (G protein subunit beta 1) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Intellectual disability, autosomal dominant 42 | TCCCCTCACGAGTTTTCAGATTGTAAATGGAGCAAATGTTATCCAGGCCACCGCAGGCCACATAGTTCCCAGAAGGGGCATATGCACAGGTCATGACCCAGGAGGAGCGCAGAGGGATGGCGTGGACCTAATGACAGAAAGACAGATGATGCAAACAACTTTATGTTCAAAAACAACACTGACACCAGGATTTTCTCATCTCCAACTTTCACTGCAAAGGAGGTAACAGAACAAAATAAGAGCCAAAATTATCTAGAGAGCGATTCCCATATGTGGCCACTCAGGTGAAGCATACTTAATGAGAAGTCCAGTGCTGCACA... | TCCCCTCACGAGTTTTCAGATTGTAAATGGAGCAAATGTTATCCAGGCCACCGCAGGCCACATAGTTCCCAGAAGGGGCATATGCACAGGTCATGACCCAGGAGGAGCGCAGAGGGATGGCGTGGACCTAATGACAGAAAGACAGATGATGCAAACAACTTTATGTTCAAAAACAACACTGACACCAGGATTTTCTCATCTCCAACTTTCACTGCAAAGGAGGTAACAGAACAAAATAAGAGCCAAAATTATCTAGAGAGCGATTCCCATATGTGGCCACTCAGGTGAAGCATACTTAATGAGAAGTCCAGTGCTGCACA... |
Task1_train_41 | Here is a mutation in GNB1 (G protein subunit beta 1) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Acute lymphoid leukemia | TCCCCTCACGAGTTTTCAGATTGTAAATGGAGCAAATGTTATCCAGGCCACCGCAGGCCACATAGTTCCCAGAAGGGGCATATGCACAGGTCATGACCCAGGAGGAGCGCAGAGGGATGGCGTGGACCTAATGACAGAAAGACAGATGATGCAAACAACTTTATGTTCAAAAACAACACTGACACCAGGATTTTCTCATCTCCAACTTTCACTGCAAAGGAGGTAACAGAACAAAATAAGAGCCAAAATTATCTAGAGAGCGATTCCCATATGTGGCCACTCAGGTGAAGCATACTTAATGAGAAGTCCAGTGCTGCACA... | TCCCCTCACGAGTTTTCAGATTGTAAATGGAGCAAATGTTATCCAGGCCACCGCAGGCCACATAGTTCCCAGAAGGGGCATATGCACAGGTCATGACCCAGGAGGAGCGCAGAGGGATGGCGTGGACCTAATGACAGAAAGACAGATGATGCAAACAACTTTATGTTCAAAAACAACACTGACACCAGGATTTTCTCATCTCCAACTTTCACTGCAAAGGAGGTAACAGAACAAAATAAGAGCCAAAATTATCTAGAGAGCGATTCCCATATGTGGCCACTCAGGTGAAGCATACTTAATGAGAAGTCCAGTGCTGCACA... |
Task1_train_42 | A mutation on Chromosome 1 affecting GNB1 (G protein subunit beta 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | GAGTTTTCAGATTGTAAATGGAGCAAATGTTATCCAGGCCACCGCAGGCCACATAGTTCCCAGAAGGGGCATATGCACAGGTCATGACCCAGGAGGAGCGCAGAGGGATGGCGTGGACCTAATGACAGAAAGACAGATGATGCAAACAACTTTATGTTCAAAAACAACACTGACACCAGGATTTTCTCATCTCCAACTTTCACTGCAAAGGAGGTAACAGAACAAAATAAGAGCCAAAATTATCTAGAGAGCGATTCCCATATGTGGCCACTCAGGTGAAGCATACTTAATGAGAAGTCCAGTGCTGCACATGGGATTCA... | GAGTTTTCAGATTGTAAATGGAGCAAATGTTATCCAGGCCACCGCAGGCCACATAGTTCCCAGAAGGGGCATATGCACAGGTCATGACCCAGGAGGAGCGCAGAGGGATGGCGTGGACCTAATGACAGAAAGACAGATGATGCAAACAACTTTATGTTCAAAAACAACACTGACACCAGGATTTTCTCATCTCCAACTTTCACTGCAAAGGAGGTAACAGAACAAAATAAGAGCCAAAATTATCTAGAGAGCGATTCCCATATGTGGCCACTCAGGTGAAGCATACTTAATGAGAAGTCCAGTGCTGCACATGGGATTCA... |
Task1_train_43 | A variant affecting Chromosome 1, within the gene GNB1 (G protein subunit beta 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Intellectual disability, autosomal dominant 42 | AGTTTTCAGATTGTAAATGGAGCAAATGTTATCCAGGCCACCGCAGGCCACATAGTTCCCAGAAGGGGCATATGCACAGGTCATGACCCAGGAGGAGCGCAGAGGGATGGCGTGGACCTAATGACAGAAAGACAGATGATGCAAACAACTTTATGTTCAAAAACAACACTGACACCAGGATTTTCTCATCTCCAACTTTCACTGCAAAGGAGGTAACAGAACAAAATAAGAGCCAAAATTATCTAGAGAGCGATTCCCATATGTGGCCACTCAGGTGAAGCATACTTAATGAGAAGTCCAGTGCTGCACATGGGATTCAA... | AGTTTTCAGATTGTAAATGGAGCAAATGTTATCCAGGCCACCGCAGGCCACATAGTTCCCAGAAGGGGCATATGCACAGGTCATGACCCAGGAGGAGCGCAGAGGGATGGCGTGGACCTAATGACAGAAAGACAGATGATGCAAACAACTTTATGTTCAAAAACAACACTGACACCAGGATTTTCTCATCTCCAACTTTCACTGCAAAGGAGGTAACAGAACAAAATAAGAGCCAAAATTATCTAGAGAGCGATTCCCATATGTGGCCACTCAGGTGAAGCATACTTAATGAGAAGTCCAGTGCTGCACATGGGATTCAA... |
Task1_train_44 | The gene GNB1 (G protein subunit beta 1), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Neurodevelopmental delay | AGTTTTCAGATTGTAAATGGAGCAAATGTTATCCAGGCCACCGCAGGCCACATAGTTCCCAGAAGGGGCATATGCACAGGTCATGACCCAGGAGGAGCGCAGAGGGATGGCGTGGACCTAATGACAGAAAGACAGATGATGCAAACAACTTTATGTTCAAAAACAACACTGACACCAGGATTTTCTCATCTCCAACTTTCACTGCAAAGGAGGTAACAGAACAAAATAAGAGCCAAAATTATCTAGAGAGCGATTCCCATATGTGGCCACTCAGGTGAAGCATACTTAATGAGAAGTCCAGTGCTGCACATGGGATTCAA... | AGTTTTCAGATTGTAAATGGAGCAAATGTTATCCAGGCCACCGCAGGCCACATAGTTCCCAGAAGGGGCATATGCACAGGTCATGACCCAGGAGGAGCGCAGAGGGATGGCGTGGACCTAATGACAGAAAGACAGATGATGCAAACAACTTTATGTTCAAAAACAACACTGACACCAGGATTTTCTCATCTCCAACTTTCACTGCAAAGGAGGTAACAGAACAAAATAAGAGCCAAAATTATCTAGAGAGCGATTCCCATATGTGGCCACTCAGGTGAAGCATACTTAATGAGAAGTCCAGTGCTGCACATGGGATTCAA... |
Task1_train_45 | This alteration in GNB1 (G protein subunit beta 1) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Intellectual disability, autosomal dominant 42 | GTTTTCAGATTGTAAATGGAGCAAATGTTATCCAGGCCACCGCAGGCCACATAGTTCCCAGAAGGGGCATATGCACAGGTCATGACCCAGGAGGAGCGCAGAGGGATGGCGTGGACCTAATGACAGAAAGACAGATGATGCAAACAACTTTATGTTCAAAAACAACACTGACACCAGGATTTTCTCATCTCCAACTTTCACTGCAAAGGAGGTAACAGAACAAAATAAGAGCCAAAATTATCTAGAGAGCGATTCCCATATGTGGCCACTCAGGTGAAGCATACTTAATGAGAAGTCCAGTGCTGCACATGGGATTCAAA... | GTTTTCAGATTGTAAATGGAGCAAATGTTATCCAGGCCACCGCAGGCCACATAGTTCCCAGAAGGGGCATATGCACAGGTCATGACCCAGGAGGAGCGCAGAGGGATGGCGTGGACCTAATGACAGAAAGACAGATGATGCAAACAACTTTATGTTCAAAAACAACACTGACACCAGGATTTTCTCATCTCCAACTTTCACTGCAAAGGAGGTAACAGAACAAAATAAGAGCCAAAATTATCTAGAGAGCGATTCCCATATGTGGCCACTCAGGTGAAGCATACTTAATGAGAAGTCCAGTGCTGCACATGGGATTCAAA... |
Task1_train_46 | This variant impacts the gene GNB1 (G protein subunit beta 1) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | TTTTCAGATTGTAAATGGAGCAAATGTTATCCAGGCCACCGCAGGCCACATAGTTCCCAGAAGGGGCATATGCACAGGTCATGACCCAGGAGGAGCGCAGAGGGATGGCGTGGACCTAATGACAGAAAGACAGATGATGCAAACAACTTTATGTTCAAAAACAACACTGACACCAGGATTTTCTCATCTCCAACTTTCACTGCAAAGGAGGTAACAGAACAAAATAAGAGCCAAAATTATCTAGAGAGCGATTCCCATATGTGGCCACTCAGGTGAAGCATACTTAATGAGAAGTCCAGTGCTGCACATGGGATTCAAAT... | TTTTCAGATTGTAAATGGAGCAAATGTTATCCAGGCCACCGCAGGCCACATAGTTCCCAGAAGGGGCATATGCACAGGTCATGACCCAGGAGGAGCGCAGAGGGATGGCGTGGACCTAATGACAGAAAGACAGATGATGCAAACAACTTTATGTTCAAAAACAACACTGACACCAGGATTTTCTCATCTCCAACTTTCACTGCAAAGGAGGTAACAGAACAAAATAAGAGCCAAAATTATCTAGAGAGCGATTCCCATATGTGGCCACTCAGGTGAAGCATACTTAATGAGAAGTCCAGTGCTGCACATGGGATTCAAAT... |
Task1_train_47 | Mutation context: Chromosome 1, Gene GNB1 (G protein subunit beta 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | CCCAAAGTGCTGGGATGAGAGGCATGAGCCAATGTGCCTGGTTACTTATTTATTTTGAATATTTAAAAGAATTTTTGACAAGTAATTATATGTATATTTACGGAGTACAATGTGATATTCTGATATATATCCACATTGTGAAATAAATCAATCAAGCTAATCAACATACCCATCACTTCCAATTTGCTCTGTGGTGGGAACACTTAAGTCTACTTTACTAACAATTTTGAAACACACGTTATTATGAACTACTCTCCGTGCTGTGTGGCACATTTCTAAAATTTATTCCTAACTAAAACTCTGTACCCTCAGAATATCAT... | CCCAAAGTGCTGGGATGAGAGGCATGAGCCAATGTGCCTGGTTACTTATTTATTTTGAATATTTAAAAGAATTTTTGACAAGTAATTATATGTATATTTACGGAGTACAATGTGATATTCTGATATATATCCACATTGTGAAATAAATCAATCAAGCTAATCAACATACCCATCACTTCCAATTTGCTCTGTGGTGGGAACACTTAAGTCTACTTTACTAACAATTTTGAAACACACGTTATTATGAACTACTCTCCGTGCTGTGTGGCACATTTCTAAAATTTATTCCTAACTAAAACTCTGTACCCTCAGAATATCAT... |
Task1_train_48 | Given a variant located on Chromosome 1 and affecting CFAP74 (cilia and flagella associated protein 74), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Ciliary dyskinesia, primary, 49, without situs inversus | GCCTCCCCACAGGTGTCCTGCAGGATGGCCCCACTCTAGGAGGCCCTTGCCAGGCAAAGCGGGTGTCATGGCTGTGAGGGGAGGGGCTGCTTCCCCAGGGCTCTGTCCCCACCTCCCATTCTGTGCTCACCCCAGGGAATAACCTGCTGTCACCCACACTGCAGGCTGCATGTGTTGGCCTACAAAAAATTTATTGACAGGCTGTGGAGGGCTCTCCTGGGGGCTGGGGGCTCTGAGGGGGTCTGGCTAGGATGGCTGAGGGCTGGCCTGGCCTTCTCGCTGCTTCTGAGTCTGGGGTCTCAGGAGGGGTGCTCTTGGAT... | GCCTCCCCACAGGTGTCCTGCAGGATGGCCCCACTCTAGGAGGCCCTTGCCAGGCAAAGCGGGTGTCATGGCTGTGAGGGGAGGGGCTGCTTCCCCAGGGCTCTGTCCCCACCTCCCATTCTGTGCTCACCCCAGGGAATAACCTGCTGTCACCCACACTGCAGGCTGCATGTGTTGGCCTACAAAAAATTTATTGACAGGCTGTGGAGGGCTCTCCTGGGGGCTGGGGGCTCTGAGGGGGTCTGGCTAGGATGGCTGAGGGCTGGCCTGGCCTTCTCGCTGCTTCTGAGTCTGGGGTCTCAGGAGGGGTGCTCTTGGAT... |
Task1_train_49 | This variant impacts the gene CFAP74 (cilia and flagella associated protein 74) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; Ciliary dyskinesia, primary, 49, without situs inversus | ATGAGGGCACACGCTGGTGCGAAGGCATGAGGGCACACGCTGGTGTGAAGGCATGAGGGCACACACTGGTCCAAAGGCATGAGGGCACACACTGGTGCGGAGGCATGAGGGCACACACTGGTGCGAAGGCATGAGGGCACACGCTGGTGCGAAGGCATGAGGGCACGCAGGGCAGGGCGAAGGCATGAGGGCACGCAGGGCAGGGCGAAGGCATGAGGGCACATGGGGCAGCGTGAAGGCATGAGGGCACACGCTGGTGTGAAGGCATGAGGGCACACAGGGCAGCGCGAAGGCACGAGGGCACACGCTGGTGCAAAGGC... | ATGAGGGCACACGCTGGTGCGAAGGCATGAGGGCACACGCTGGTGTGAAGGCATGAGGGCACACACTGGTCCAAAGGCATGAGGGCACACACTGGTGCGGAGGCATGAGGGCACACACTGGTGCGAAGGCATGAGGGCACACGCTGGTGCGAAGGCATGAGGGCACGCAGGGCAGGGCGAAGGCATGAGGGCACGCAGGGCAGGGCGAAGGCATGAGGGCACATGGGGCAGCGTGAAGGCATGAGGGCACACGCTGGTGTGAAGGCATGAGGGCACACAGGGCAGCGCGAAGGCACGAGGGCACACGCTGGTGCAAAGGC... |
Task1_train_50 | The following genetic variant occurs in CFAP74 (cilia and flagella associated protein 74) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Ciliary dyskinesia, primary, 49, without situs inversus | AAAGTCAGAAATGTAGTTCCAGGTCTTGTCCCTCAGGGTCAGCCGGTGCCTGGCACTGGTGGGGGGATGCTGTTTCTTCCTCTTTTCCTCCTCAGCCTCCTCTTTCAGAATCCGACTGATGATCTCCTGCTTTCTGAGCTTCTGCTCCTCCTCAAAGGCCCTGCGTGGAGTCGCTTCTCAGATGAGTGCAAGAGGTCCCCTGCCTCCACCTTGCCCCAGATGAGACAGTGCCCGGCGGCCCCTCCCTAGCGCCCTCCTGGGGGCTCCGGTCCTGCCCAGCAGCCCCAGGTGAGACAGCGCCTGGCGGCCCCTCCCTAGCT... | AAAGTCAGAAATGTAGTTCCAGGTCTTGTCCCTCAGGGTCAGCCGGTGCCTGGCACTGGTGGGGGGATGCTGTTTCTTCCTCTTTTCCTCCTCAGCCTCCTCTTTCAGAATCCGACTGATGATCTCCTGCTTTCTGAGCTTCTGCTCCTCCTCAAAGGCCCTGCGTGGAGTCGCTTCTCAGATGAGTGCAAGAGGTCCCCTGCCTCCACCTTGCCCCAGATGAGACAGTGCCCGGCGGCCCCTCCCTAGCGCCCTCCTGGGGGCTCCGGTCCTGCCCAGCAGCCCCAGGTGAGACAGCGCCTGGCGGCCCCTCCCTAGCT... |
Task1_train_51 | The gene CFAP74 (cilia and flagella associated protein 74) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Ciliary dyskinesia, primary, 49, without situs inversus | CCCTTCAGCGCCACCACCGCATCCATGCGTCGCCTCATGTACTCGTGGCACTCCATCTCCTCCTTCTTCTCTTGCTCTCGGATTCTGAGGAAGGACATTTAAACATTTTTGAGGCTCTGTCGCCCAGGCTGGTGTGCAGTGGTGCGATCACAGCTCTCTGCAGCCTCGACCTCCCAGGCTCAAGTGATCCTCCTGTCTCAGCCTCCCAAAGCGCTGGGATCACAGGCATGCACCACCACAAACGGCCACATTTTTAACCGAGGAAGTGACACAGCGATGCCGTGTGGGGTGTTAATTACAGGAGCCTCGGTGCTATCATT... | CCCTTCAGCGCCACCACCGCATCCATGCGTCGCCTCATGTACTCGTGGCACTCCATCTCCTCCTTCTTCTCTTGCTCTCGGATTCTGAGGAAGGACATTTAAACATTTTTGAGGCTCTGTCGCCCAGGCTGGTGTGCAGTGGTGCGATCACAGCTCTCTGCAGCCTCGACCTCCCAGGCTCAAGTGATCCTCCTGTCTCAGCCTCCCAAAGCGCTGGGATCACAGGCATGCACCACCACAAACGGCCACATTTTTAACCGAGGAAGTGACACAGCGATGCCGTGTGGGGTGTTAATTACAGGAGCCTCGGTGCTATCATT... |
Task1_train_52 | Gene GABRD (gamma-aminobutyric acid type A receptor subunit delta) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Epilepsy, idiopathic generalized, susceptibility to, 10 | TGAGACCCTGTCTCATAAACAAACAAAAACATCGGGATATTTTACATAGGAATTTAAATATTTGACCTCTCCTAGAAAATCAAGTGCGTGGCAACTCTGGGCCTATTCCCGTGTGTTCCTCAGCCATCGCTCGGGCCAGGGCCTGGGTGTGAAGGCTGTCCCCTGCCCCGTAGGCCCCCAGCCTAGTTCAATAGTCAAGCGTTTTGAAGAGAATGAATGAAATCCAGTTCTTGACGGTCCTAAAGGAATACTTGACGTCTATGAAGTTGAGCAGTTTCCAGGTTTACCTGGATTCTGGGCAAACACAGTCTGAGAAGTAG... | TGAGACCCTGTCTCATAAACAAACAAAAACATCGGGATATTTTACATAGGAATTTAAATATTTGACCTCTCCTAGAAAATCAAGTGCGTGGCAACTCTGGGCCTATTCCCGTGTGTTCCTCAGCCATCGCTCGGGCCAGGGCCTGGGTGTGAAGGCTGTCCCCTGCCCCGTAGGCCCCCAGCCTAGTTCAATAGTCAAGCGTTTTGAAGAGAATGAATGAAATCCAGTTCTTGACGGTCCTAAAGGAATACTTGACGTCTATGAAGTTGAGCAGTTTCCAGGTTTACCTGGATTCTGGGCAAACACAGTCTGAGAAGTAG... |
Task1_train_53 | This mutation occurs in SKI (SKI proto-oncogene) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Shprintzen-Goldberg syndrome | CGTGGCCCTCTCGCCTCCGCCCAGCACCCAGGCCAGCTTGGGCACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGT... | CGTGGCCCTCTCGCCTCCGCCCAGCACCCAGGCCAGCTTGGGCACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGT... |
Task1_train_54 | A genomic change on Chromosome 1 affects SKI (SKI proto-oncogene). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Shprintzen-Goldberg syndrome | GGCCCTCTCGCCTCCGCCCAGCACCCAGGCCAGCTTGGGCACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAG... | GGCCCTCTCGCCTCCGCCCAGCACCCAGGCCAGCTTGGGCACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAG... |
Task1_train_55 | A sequence alteration has been identified in SKI (SKI proto-oncogene) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Shprintzen-Goldberg syndrome | GCACCCAGGCCAGCTTGGGCACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACG... | GCACCCAGGCCAGCTTGGGCACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACG... |
Task1_train_56 | A variant on Chromosome 1 in gene SKI (SKI proto-oncogene) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Shprintzen-Goldberg syndrome | CCAGCTTGGGCACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCC... | CCAGCTTGGGCACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCC... |
Task1_train_57 | Given this context: Chromosome 1, gene SKI (SKI proto-oncogene) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Inborn genetic diseases | GCTTGGGCACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCG... | GCTTGGGCACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCG... |
Task1_train_58 | The gene SKI (SKI proto-oncogene), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Shprintzen-Goldberg syndrome | GCTTGGGCACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCG... | GCTTGGGCACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCG... |
Task1_train_59 | A variant found in Chromosome 1 affects SKI (SKI proto-oncogene). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | GCACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCG... | GCACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCG... |
Task1_train_60 | Consider a variant on Chromosome 1 in gene SKI (SKI proto-oncogene). Determine its clinical classification and disease relevance. | Pathogenic; Inborn genetic diseases | GCACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCG... | GCACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCG... |
Task1_train_61 | Given a variant located on Chromosome 1 and affecting SKI (SKI proto-oncogene), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Shprintzen-Goldberg syndrome | GCACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCG... | GCACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCG... |
Task1_train_62 | This variant affects the gene SKI (SKI proto-oncogene) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Shprintzen-Goldberg syndrome | CACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCGA... | CACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCGA... |
Task1_train_63 | Given this variant in gene SKI (SKI proto-oncogene) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Shprintzen-Goldberg syndrome | CACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCGA... | CACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCGA... |
Task1_train_64 | Here’s a variant in SKI (SKI proto-oncogene) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Shprintzen-Goldberg syndrome | CCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCGAAG... | CCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCGAAG... |
Task1_train_65 | A variant affecting Chromosome 1, within the gene SKI (SKI proto-oncogene), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCGAAG... | CCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCGAAG... |
Task1_train_66 | A change on Chromosome 1 affects gene SKI (SKI proto-oncogene). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Shprintzen-Goldberg syndrome | CCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCGAAGTCCTGATAAGCCACCTGGCAGGAGTGGCTGGCAGACCGGCTGCGTCTGGGGCACCGGGCGCCGCCCCTCCCAGGCCCGAAGCCCCCGGCCCGCGCAGCAGGGACACTCCGCCAGGGGCCGGCGGGCGGGGCGGGGCCGGCGCGGCCGGGAGCCGCGGACACT... | CCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCGAAGTCCTGATAAGCCACCTGGCAGGAGTGGCTGGCAGACCGGCTGCGTCTGGGGCACCGGGCGCCGCCCCTCCCAGGCCCGAAGCCCCCGGCCCGCGCAGCAGGGACACTCCGCCAGGGGCCGGCGGGCGGGGCGGGGCCGGCGCGGCCGGGAGCCGCGGACACT... |
Task1_train_67 | Consider this mutation in PEX10 (peroxisomal biogenesis factor 10) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Peroxisome biogenesis disorder 6B | AAGGACTGGGTGCTGATGGATGGAGCCACGGCGGCATCTGCCCACCCGGCCGCAGCCCCCAGTGCCTCTCCTGGTGGTCCTCCCAGTCTAGAGGGTCACGGCCCCCCCGCCCTCCTCCGTCTCTGGCAAGCTGACCTTGACTAACCCAGGAATACAGGGTCATCCTCATTCCTAAGTAAGTCAAACAGCAAGACATGGTTTGCGCGGGTCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCT... | AAGGACTGGGTGCTGATGGATGGAGCCACGGCGGCATCTGCCCACCCGGCCGCAGCCCCCAGTGCCTCTCCTGGTGGTCCTCCCAGTCTAGAGGGTCACGGCCCCCCCGCCCTCCTCCGTCTCTGGCAAGCTGACCTTGACTAACCCAGGAATACAGGGTCATCCTCATTCCTAAGTAAGTCAAACAGCAAGACATGGTTTGCGCGGGTCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCT... |
Task1_train_68 | This variant lies on Chromosome 1 and affects the gene PEX10 (peroxisomal biogenesis factor 10). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Peroxisome biogenesis disorder 6A (Zellweger) | ACCCGGCCGCAGCCCCCAGTGCCTCTCCTGGTGGTCCTCCCAGTCTAGAGGGTCACGGCCCCCCCGCCCTCCTCCGTCTCTGGCAAGCTGACCTTGACTAACCCAGGAATACAGGGTCATCCTCATTCCTAAGTAAGTCAAACAGCAAGACATGGTTTGCGCGGGTCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTA... | ACCCGGCCGCAGCCCCCAGTGCCTCTCCTGGTGGTCCTCCCAGTCTAGAGGGTCACGGCCCCCCCGCCCTCCTCCGTCTCTGGCAAGCTGACCTTGACTAACCCAGGAATACAGGGTCATCCTCATTCCTAAGTAAGTCAAACAGCAAGACATGGTTTGCGCGGGTCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTA... |
Task1_train_69 | Consider a variant on Chromosome 1 in gene PEX10 (peroxisomal biogenesis factor 10). Determine its clinical classification and disease relevance. | Pathogenic; Peroxisome biogenesis disorder 6A (Zellweger) | TGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGG... | TGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGG... |
Task1_train_70 | Consider this mutation in PEX10 (peroxisomal biogenesis factor 10) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Peroxisome biogenesis disorder 6B | TGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGG... | TGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGG... |
Task1_train_71 | A variant affecting Chromosome 1, within the gene PEX10 (peroxisomal biogenesis factor 10), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Peroxisome biogenesis disorder, complementation group 7 | TGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGG... | TGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGG... |
Task1_train_72 | This gene mutation involves PEX10 (peroxisomal biogenesis factor 10) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Peroxisome biogenesis disorder | TGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGG... | TGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGG... |
Task1_train_73 | A variant has been detected on Chromosome 1 in PEX10 (peroxisomal biogenesis factor 10). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Peroxisome biogenesis disorder, complementation group 7 | GAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGGC... | GAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGGC... |
Task1_train_74 | A sequence alteration has been identified in PRDM16 (PR/SET domain 16) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Cardiomyopathy, dilated, 1LL | GGCCCCTCGGCCCCCGCATCCGGCGAGGAGCAGCCGCTGGACCTGAGCATCGGCAGCCGGGCCCGTGCCAGCCAAAACGGCGGCGGGCGGGAGCCCCGCAAGAACCACGTCTATGGGGAACGCAAGCTGGGCGCCGGCGAGGGGCTGCCCCAGGTGTGCCCGGCGCGGATGCCCCAGCAGCCCCCGCTCCACTACGCCAAGCCCTCGCCCTTCTTCATGGACCCCATCTACAGGTATTCAGCACCCCAGCCTCACTGGCTCTCCCTGGGGCGGGGCCGCGGCGGTGCTGGGCGGGCTCAGTGCATGGTGGTGTCTCTTTC... | GGCCCCTCGGCCCCCGCATCCGGCGAGGAGCAGCCGCTGGACCTGAGCATCGGCAGCCGGGCCCGTGCCAGCCAAAACGGCGGCGGGCGGGAGCCCCGCAAGAACCACGTCTATGGGGAACGCAAGCTGGGCGCCGGCGAGGGGCTGCCCCAGGTGTGCCCGGCGCGGATGCCCCAGCAGCCCCCGCTCCACTACGCCAAGCCCTCGCCCTTCTTCATGGACCCCATCTACAGGTATTCAGCACCCCAGCCTCACTGGCTCTCCCTGGGGCGGGGCCGCGGCGGTGCTGGGCGGGCTCAGTGCATGGTGGTGTCTCTTTC... |
Task1_train_75 | Assess the clinical impact of this variant on gene NPHP4 (nephrocystin 4), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Nephronophthisis 4 | ACCACACCACACACTCACACACCAGGGAATGCTCTGCGTGAGGCTCAAGGAGTGGCCGCAGGCTGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGC... | ACCACACCACACACTCACACACCAGGGAATGCTCTGCGTGAGGCTCAAGGAGTGGCCGCAGGCTGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGC... |
Task1_train_76 | Gene ESPN (espin) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Deafness, without vestibular involvement, autosomal dominant | GTGTCTTCCTCACCCAGCCACTCAGGGCAGAGATCATGCTTAGTGGCACCCCTCAAAGCTTCATCTCCCTGACTAGAAGTGCAGAGCAGAGCTAGTCCCCCTACGGTTCCTATGGAGCCCCAGCCCCTGCAGACCAGAGCCCATGTAAGCAAGTCCAGCACCTGCCGAACCTCCTTCTTCCCTCCACAGCCTGCAGCAGGGCTGAAGCTAAGGGCAGAGAAAAACATACTCTGGGCTTCCCGAGACACCCTCACCCAGCACAGCCAGGGCTGGGTGCCCTACCCCAACCCAGTGCCAAGGTGGAGGCCCTTGCTAGGGGC... | GTGTCTTCCTCACCCAGCCACTCAGGGCAGAGATCATGCTTAGTGGCACCCCTCAAAGCTTCATCTCCCTGACTAGAAGTGCAGAGCAGAGCTAGTCCCCCTACGGTTCCTATGGAGCCCCAGCCCCTGCAGACCAGAGCCCATGTAAGCAAGTCCAGCACCTGCCGAACCTCCTTCTTCCCTCCACAGCCTGCAGCAGGGCTGAAGCTAAGGGCAGAGAAAAACATACTCTGGGCTTCCCGAGACACCCTCACCCAGCACAGCCAGGGCTGGGTGCCCTACCCCAACCCAGTGCCAAGGTGGAGGCCCTTGCTAGGGGC... |
Task1_train_77 | A genomic change on Chromosome 1 affects ESPN (espin). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Deafness, without vestibular involvement, autosomal dominant | GAACCTCCTTCTTCCCTCCACAGCCTGCAGCAGGGCTGAAGCTAAGGGCAGAGAAAAACATACTCTGGGCTTCCCGAGACACCCTCACCCAGCACAGCCAGGGCTGGGTGCCCTACCCCAACCCAGTGCCAAGGTGGAGGCCCTTGCTAGGGGCTAGAGCCAGTGGTGGCCCTGCCCAGCCCTCAGGGGCACCAGCCAAGCCAGGAACTCGATGGACCACCCTCATGGGGCCCCAGAGCAGCCTGAGCCAGGGTCAGATGGGCAGAAAAGCTCCTCCTCTCTTCTCCACTTCCCCCCCGCCCGCTCTCCCTGGCCCGCTC... | GAACCTCCTTCTTCCCTCCACAGCCTGCAGCAGGGCTGAAGCTAAGGGCAGAGAAAAACATACTCTGGGCTTCCCGAGACACCCTCACCCAGCACAGCCAGGGCTGGGTGCCCTACCCCAACCCAGTGCCAAGGTGGAGGCCCTTGCTAGGGGCTAGAGCCAGTGGTGGCCCTGCCCAGCCCTCAGGGGCACCAGCCAAGCCAGGAACTCGATGGACCACCCTCATGGGGCCCCAGAGCAGCCTGAGCCAGGGTCAGATGGGCAGAAAAGCTCCTCCTCTCTTCTCCACTTCCCCCCCGCCCGCTCTCCCTGGCCCGCTC... |
Task1_train_78 | Chromosome 1 houses a mutation in gene CAMTA1 (calmodulin binding transcription activator 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Neurodevelopmental abnormality | AACCCATCCACAGAAGAAGACCCGGCATTGCCACACTCTCATGAGTGTCTTCATTCTTTTTTTGGAGAGAATGAGCCACACGCAGAGCCCACCTGTTTCATTAAACAAGTTCCCTTGCTTATTCCTTAGGAAGTGGTCCTAAGCACAGTCCGTGGACCTCAGGCACCTTCTAATGGGTCTTTCAGGGGCGGGGAGGGCTTACAGCACGGTGAAGATTAAGGACAAACATCTAGAGAGGGGCTGAAGCGGGAAGAGGCTGACATCGTTGGCCCCACATGCAAGCCTACCTGCCATTTAGAAATGGAAGTGAATTGTAAGGT... | AACCCATCCACAGAAGAAGACCCGGCATTGCCACACTCTCATGAGTGTCTTCATTCTTTTTTTGGAGAGAATGAGCCACACGCAGAGCCCACCTGTTTCATTAAACAAGTTCCCTTGCTTATTCCTTAGGAAGTGGTCCTAAGCACAGTCCGTGGACCTCAGGCACCTTCTAATGGGTCTTTCAGGGGCGGGGAGGGCTTACAGCACGGTGAAGATTAAGGACAAACATCTAGAGAGGGGCTGAAGCGGGAAGAGGCTGACATCGTTGGCCCCACATGCAAGCCTACCTGCCATTTAGAAATGGAAGTGAATTGTAAGGT... |
Task1_train_79 | Consider a variant on Chromosome 1 in gene CAMTA1 (calmodulin binding transcription activator 1). Determine its clinical classification and disease relevance. | Pathogenic; Cerebellar dysfunction with variable cognitive and behavioral abnormalities | ACCCATCCACAGAAGAAGACCCGGCATTGCCACACTCTCATGAGTGTCTTCATTCTTTTTTTGGAGAGAATGAGCCACACGCAGAGCCCACCTGTTTCATTAAACAAGTTCCCTTGCTTATTCCTTAGGAAGTGGTCCTAAGCACAGTCCGTGGACCTCAGGCACCTTCTAATGGGTCTTTCAGGGGCGGGGAGGGCTTACAGCACGGTGAAGATTAAGGACAAACATCTAGAGAGGGGCTGAAGCGGGAAGAGGCTGACATCGTTGGCCCCACATGCAAGCCTACCTGCCATTTAGAAATGGAAGTGAATTGTAAGGTT... | ACCCATCCACAGAAGAAGACCCGGCATTGCCACACTCTCATGAGTGTCTTCATTCTTTTTTTGGAGAGAATGAGCCACACGCAGAGCCCACCTGTTTCATTAAACAAGTTCCCTTGCTTATTCCTTAGGAAGTGGTCCTAAGCACAGTCCGTGGACCTCAGGCACCTTCTAATGGGTCTTTCAGGGGCGGGGAGGGCTTACAGCACGGTGAAGATTAAGGACAAACATCTAGAGAGGGGCTGAAGCGGGAAGAGGCTGACATCGTTGGCCCCACATGCAAGCCTACCTGCCATTTAGAAATGGAAGTGAATTGTAAGGTT... |
Task1_train_80 | The gene CAMTA1 (calmodulin binding transcription activator 1), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | CCCGGCATTGCCACACTCTCATGAGTGTCTTCATTCTTTTTTTGGAGAGAATGAGCCACACGCAGAGCCCACCTGTTTCATTAAACAAGTTCCCTTGCTTATTCCTTAGGAAGTGGTCCTAAGCACAGTCCGTGGACCTCAGGCACCTTCTAATGGGTCTTTCAGGGGCGGGGAGGGCTTACAGCACGGTGAAGATTAAGGACAAACATCTAGAGAGGGGCTGAAGCGGGAAGAGGCTGACATCGTTGGCCCCACATGCAAGCCTACCTGCCATTTAGAAATGGAAGTGAATTGTAAGGTTTCCAATGCAGACTTGTAAG... | CCCGGCATTGCCACACTCTCATGAGTGTCTTCATTCTTTTTTTGGAGAGAATGAGCCACACGCAGAGCCCACCTGTTTCATTAAACAAGTTCCCTTGCTTATTCCTTAGGAAGTGGTCCTAAGCACAGTCCGTGGACCTCAGGCACCTTCTAATGGGTCTTTCAGGGGCGGGGAGGGCTTACAGCACGGTGAAGATTAAGGACAAACATCTAGAGAGGGGCTGAAGCGGGAAGAGGCTGACATCGTTGGCCCCACATGCAAGCCTACCTGCCATTTAGAAATGGAAGTGAATTGTAAGGTTTCCAATGCAGACTTGTAAG... |
Task1_train_81 | Gene PER3 (period circadian regulator 3) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Advanced sleep phase syndrome 3 | GGAAAAGGTATTTAATCAGGTGAAGGAGAAAATACGTGTAAAGCACTTGGAATAATAAGGATTTTCAAAATGTCAGGTATTCTTCTATGTTATAAAAACTAGTACAGGCTGGGTGCAGTGGCACACTCCTGTAATGCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGTGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGGATCGCCTGAACCTGGGTGGC... | GGAAAAGGTATTTAATCAGGTGAAGGAGAAAATACGTGTAAAGCACTTGGAATAATAAGGATTTTCAAAATGTCAGGTATTCTTCTATGTTATAAAAACTAGTACAGGCTGGGTGCAGTGGCACACTCCTGTAATGCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGTGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGGATCGCCTGAACCTGGGTGGC... |
Task1_train_82 | This genomic variant is located on Chromosome 1, within the PER3 (period circadian regulator 3) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Advanced sleep phase syndrome 3 | GTATTTAATCAGGTGAAGGAGAAAATACGTGTAAAGCACTTGGAATAATAAGGATTTTCAAAATGTCAGGTATTCTTCTATGTTATAAAAACTAGTACAGGCTGGGTGCAGTGGCACACTCCTGTAATGCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGTGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGGATCGCCTGAACCTGGGTGGCAAAGATT... | GTATTTAATCAGGTGAAGGAGAAAATACGTGTAAAGCACTTGGAATAATAAGGATTTTCAAAATGTCAGGTATTCTTCTATGTTATAAAAACTAGTACAGGCTGGGTGCAGTGGCACACTCCTGTAATGCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGTGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGGATCGCCTGAACCTGGGTGGCAAAGATT... |
Task1_train_83 | A variant was discovered on Chromosome 1, affecting TNFRSF9 (TNF receptor superfamily member 9). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Immunodeficiency 109 with lymphoproliferation | AGCACTTTGGGAGGCCAAGGCAAGCGGATCACTTGAGGTCAGGAGTGCGAGACCAGCCTGGCTAACATGGTGAAAGCCCATCTCTACTAAAAATACAAAAGCACTAGCCAGGCGTGGTTGTGTGCACCTGTAATCCCAGCTACTAGGAGGCCGAGGCAGGAGAATCTCTTGAACCCAGGAGGCAGAGTTTGCAGTGAGGCGAGACCGTGCCATTGCACTCCAGCCTGGGCAAGAAGAGCGAAACTCCATCTCAAAACAAACAAACAAACAAACAAACAAAACAAACAAACAGACCTTTTTAAAAAAGCCACTTTCCAAAG... | AGCACTTTGGGAGGCCAAGGCAAGCGGATCACTTGAGGTCAGGAGTGCGAGACCAGCCTGGCTAACATGGTGAAAGCCCATCTCTACTAAAAATACAAAAGCACTAGCCAGGCGTGGTTGTGTGCACCTGTAATCCCAGCTACTAGGAGGCCGAGGCAGGAGAATCTCTTGAACCCAGGAGGCAGAGTTTGCAGTGAGGCGAGACCGTGCCATTGCACTCCAGCCTGGGCAAGAAGAGCGAAACTCCATCTCAAAACAAACAAACAAACAAACAAACAAAACAAACAAACAGACCTTTTTAAAAAAGCCACTTTCCAAAG... |
Task1_train_84 | Given a variant located on Chromosome 1 and affecting PARK7 (Parkinsonism associated deglycase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Autosomal recessive early-onset Parkinson disease 7 | TTGATGGTCACCAGGTGATCTGTGCTCTCCTTAAGAGGGAATAAGACCTAGCGTTGGCAGAGTTCTGTAGGGTGACTATAGTTAACAGTAATCTGTTGTATATTTTAAAATGTTATTATTGAAGAGAGTAACTGGAATGTTCCCAGTATAAAGACAAATGTTTAAGGTGATAGAGATCTCATTTACCCTGATTTAATCATTACACATTATATGAAAGTATCAAAATACCACATGTACCCAGAAAACACATACGTCTCTTACATATCAATAAATACAACTTGAGATTATGATGTAAATACATCTGACCAACTTGGTACTTA... | TTGATGGTCACCAGGTGATCTGTGCTCTCCTTAAGAGGGAATAAGACCTAGCGTTGGCAGAGTTCTGTAGGGTGACTATAGTTAACAGTAATCTGTTGTATATTTTAAAATGTTATTATTGAAGAGAGTAACTGGAATGTTCCCAGTATAAAGACAAATGTTTAAGGTGATAGAGATCTCATTTACCCTGATTTAATCATTACACATTATATGAAAGTATCAAAATACCACATGTACCCAGAAAACACATACGTCTCTTACATATCAATAAATACAACTTGAGATTATGATGTAAATACATCTGACCAACTTGGTACTTA... |
Task1_train_85 | Given this variant in gene PARK7 (Parkinsonism associated deglycase) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 | GTTGTCCACCCGCCTCAGGCCTCCCAAAGTGTTAGGACTACAGGCGTGAGCCACTGCACTGTCCTTAGACCCATTTCTTTTTTCTTCTTTTTTTTTTTTTTTGAGATGGTGTCTCTCTGTGTCGCTCAGCCTGGAACGCAGTGGTGTGATCTCTGCTCGCTGCAACCTCTGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCACCCTCAGCTGGGATTACAGGTGTCCGCCACCACGCCCGGCTAATTGTATTTTTAGTACAGATGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCTTCAAGTGACCCGC... | GTTGTCCACCCGCCTCAGGCCTCCCAAAGTGTTAGGACTACAGGCGTGAGCCACTGCACTGTCCTTAGACCCATTTCTTTTTTCTTCTTTTTTTTTTTTTTTGAGATGGTGTCTCTCTGTGTCGCTCAGCCTGGAACGCAGTGGTGTGATCTCTGCTCGCTGCAACCTCTGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCACCCTCAGCTGGGATTACAGGTGTCCGCCACCACGCCCGGCTAATTGTATTTTTAGTACAGATGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCTTCAAGTGACCCGC... |
Task1_train_86 | This genomic variant is located on Chromosome 1, within the PARK7 (Parkinsonism associated deglycase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Autosomal recessive early-onset Parkinson disease 7 | TTTTTTCTTCTTTTTTTTTTTTTTTGAGATGGTGTCTCTCTGTGTCGCTCAGCCTGGAACGCAGTGGTGTGATCTCTGCTCGCTGCAACCTCTGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCACCCTCAGCTGGGATTACAGGTGTCCGCCACCACGCCCGGCTAATTGTATTTTTAGTACAGATGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCTTCAAGTGACCCGCCCGCCTTAGCCTTTTACAGTGCTGGGATTACAGGCAGGAGCCACCATGCCCGGCCCCTCAGACTCGTTTCTTAAAGA... | TTTTTTCTTCTTTTTTTTTTTTTTTGAGATGGTGTCTCTCTGTGTCGCTCAGCCTGGAACGCAGTGGTGTGATCTCTGCTCGCTGCAACCTCTGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCACCCTCAGCTGGGATTACAGGTGTCCGCCACCACGCCCGGCTAATTGTATTTTTAGTACAGATGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCTTCAAGTGACCCGCCCGCCTTAGCCTTTTACAGTGCTGGGATTACAGGCAGGAGCCACCATGCCCGGCCCCTCAGACTCGTTTCTTAAAGA... |
Task1_train_87 | A genetic alteration is present in PARK7 (Parkinsonism associated deglycase) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Autosomal recessive early-onset Parkinson disease 7 | GTTCTCATTCTCCCTCTGCCCCATCCCACACTACTCCCATTAGCAACTAGAGTGTCTTCCTTTGTCTGTGACTACCTGTATACAGAATATGTGGGGTGGGGTGCTTGTGGTGATTGTACACATACACGCATACATCTACACACAAATACATATATCCTTGTCTTTTACAGGAAGGAGATTATACTACCCCTGCTACTCTGCAGCGTGGACATCCTTGCATGTCACTACATACAGGTTTTCTGCATTTTTTGCTAGTTAAAACACCATTCCGTCATGTGGATACACCTTAATTTATTTAACTGTTCTATTGGCAGATAGGC... | GTTCTCATTCTCCCTCTGCCCCATCCCACACTACTCCCATTAGCAACTAGAGTGTCTTCCTTTGTCTGTGACTACCTGTATACAGAATATGTGGGGTGGGGTGCTTGTGGTGATTGTACACATACACGCATACATCTACACACAAATACATATATCCTTGTCTTTTACAGGAAGGAGATTATACTACCCCTGCTACTCTGCAGCGTGGACATCCTTGCATGTCACTACATACAGGTTTTCTGCATTTTTTGCTAGTTAAAACACCATTCCGTCATGTGGATACACCTTAATTTATTTAACTGTTCTATTGGCAGATAGGC... |
Task1_train_88 | Consider a variant on Chromosome 1 in gene PARK7 (Parkinsonism associated deglycase). Determine its clinical classification and disease relevance. | Pathogenic; Autosomal recessive early-onset Parkinson disease 7 | GTAACTGCCTGTGAACGATCAATTGAGATAACTCACTGCCTTCGACCAGCAGTGGCTTGGTTTCTAATGACAGTAAGACAAGTTCCTATAGCCATTGTTAATCTCCTTGGAAAAGAAATGAACACTGTGTGGTTTCAGAAGCTCATTAATATAGCAGAAGCACTCTGCTTCTGTTTGAAGGGAGGTTTTCAGATGAATTTTTCTGCGTGTTCATTGAACAGACGTTTCCTAAGCTCCTCCTTAGTGCCTGGCACTGGGAACAGAAGAAGGAAGAAGAGAAAGCTGTGCCCTCAGGGTGTTCTCAGGTCCGCACTGAGCGG... | GTAACTGCCTGTGAACGATCAATTGAGATAACTCACTGCCTTCGACCAGCAGTGGCTTGGTTTCTAATGACAGTAAGACAAGTTCCTATAGCCATTGTTAATCTCCTTGGAAAAGAAATGAACACTGTGTGGTTTCAGAAGCTCATTAATATAGCAGAAGCACTCTGCTTCTGTTTGAAGGGAGGTTTTCAGATGAATTTTTCTGCGTGTTCATTGAACAGACGTTTCCTAAGCTCCTCCTTAGTGCCTGGCACTGGGAACAGAAGAAGGAAGAAGAGAAAGCTGTGCCCTCAGGGTGTTCTCAGGTCCGCACTGAGCGG... |
Task1_train_89 | Mutation context: Chromosome 1, Gene RERE (arginine-glutamic acid dipeptide repeats). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | AATGGACACAGGCCCATGCGCTTTCCATCCCGTGGAAACAGAACAGTGACACTGGAGAACAGAAAGTGAACATTCACCTCCTGCACTCCCTGTGCAAAATGGAAGAGGTCTGATGGAGCAGATGTCTGTGCTGCTGGCAGAGCACAGGCTAGGAGCAGACACAAGTGAAACGCCAGGCAGAAAACAGAGTCTGTAACATCGTCCCTGCAAACCCTGGATGCTCGCTGCTGTGACCAGGCCTCGGTCCAAGCCTCTGTCCATGTGGAACGCCCCTTTGCTCCCTTTAATTAAAGGGATAATTATATATAACTTTTTATTAA... | AATGGACACAGGCCCATGCGCTTTCCATCCCGTGGAAACAGAACAGTGACACTGGAGAACAGAAAGTGAACATTCACCTCCTGCACTCCCTGTGCAAAATGGAAGAGGTCTGATGGAGCAGATGTCTGTGCTGCTGGCAGAGCACAGGCTAGGAGCAGACACAAGTGAAACGCCAGGCAGAAAACAGAGTCTGTAACATCGTCCCTGCAAACCCTGGATGCTCGCTGCTGTGACCAGGCCTCGGTCCAAGCCTCTGTCCATGTGGAACGCCCCTTTGCTCCCTTTAATTAAAGGGATAATTATATATAACTTTTTATTAA... |
Task1_train_90 | Located on Chromosome 1, this mutation impacts RERE (arginine-glutamic acid dipeptide repeats). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | CCAGGCGGGTAGGGGAAGCGAGCCAGGTGGGGACCGGCAGTCAGGGGGTCGACCAGCGGGTGAACGGGGCCTGCTGAACCTAAGGAAAGGACAAAACGCCAGATGGAGGCGGTGTGCAGCTCTTCAATGTTTGTCCCCCTTGGCTGGAATGACCGATGACTTCCTCCTCACCCAGGATGGCTCCTGGTCACCAGGGCTGGATGCACCACCTGGCTACAGGTGGCCCTGCCCCAAAGTGGCTGCCTCCACCTTCAGCAAGAGCTCCAGAGGCCGAGAGAAGTGACGAGCCCACCGCTGATGCAGGCACTCCCTCGTCCGCT... | CCAGGCGGGTAGGGGAAGCGAGCCAGGTGGGGACCGGCAGTCAGGGGGTCGACCAGCGGGTGAACGGGGCCTGCTGAACCTAAGGAAAGGACAAAACGCCAGATGGAGGCGGTGTGCAGCTCTTCAATGTTTGTCCCCCTTGGCTGGAATGACCGATGACTTCCTCCTCACCCAGGATGGCTCCTGGTCACCAGGGCTGGATGCACCACCTGGCTACAGGTGGCCCTGCCCCAAAGTGGCTGCCTCCACCTTCAGCAAGAGCTCCAGAGGCCGAGAGAAGTGACGAGCCCACCGCTGATGCAGGCACTCCCTCGTCCGCT... |
Task1_train_91 | A variant affecting Chromosome 1, within the gene RERE (arginine-glutamic acid dipeptide repeats), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | GAAGCGAGCCAGGTGGGGACCGGCAGTCAGGGGGTCGACCAGCGGGTGAACGGGGCCTGCTGAACCTAAGGAAAGGACAAAACGCCAGATGGAGGCGGTGTGCAGCTCTTCAATGTTTGTCCCCCTTGGCTGGAATGACCGATGACTTCCTCCTCACCCAGGATGGCTCCTGGTCACCAGGGCTGGATGCACCACCTGGCTACAGGTGGCCCTGCCCCAAAGTGGCTGCCTCCACCTTCAGCAAGAGCTCCAGAGGCCGAGAGAAGTGACGAGCCCACCGCTGATGCAGGCACTCCCTCGTCCGCTTGTGGAGTGCCCCT... | GAAGCGAGCCAGGTGGGGACCGGCAGTCAGGGGGTCGACCAGCGGGTGAACGGGGCCTGCTGAACCTAAGGAAAGGACAAAACGCCAGATGGAGGCGGTGTGCAGCTCTTCAATGTTTGTCCCCCTTGGCTGGAATGACCGATGACTTCCTCCTCACCCAGGATGGCTCCTGGTCACCAGGGCTGGATGCACCACCTGGCTACAGGTGGCCCTGCCCCAAAGTGGCTGCCTCCACCTTCAGCAAGAGCTCCAGAGGCCGAGAGAAGTGACGAGCCCACCGCTGATGCAGGCACTCCCTCGTCCGCTTGTGGAGTGCCCCT... |
Task1_train_92 | With a mutation on Chromosome 1 in gene RERE (arginine-glutamic acid dipeptide repeats), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | AGCGAGCCAGGTGGGGACCGGCAGTCAGGGGGTCGACCAGCGGGTGAACGGGGCCTGCTGAACCTAAGGAAAGGACAAAACGCCAGATGGAGGCGGTGTGCAGCTCTTCAATGTTTGTCCCCCTTGGCTGGAATGACCGATGACTTCCTCCTCACCCAGGATGGCTCCTGGTCACCAGGGCTGGATGCACCACCTGGCTACAGGTGGCCCTGCCCCAAAGTGGCTGCCTCCACCTTCAGCAAGAGCTCCAGAGGCCGAGAGAAGTGACGAGCCCACCGCTGATGCAGGCACTCCCTCGTCCGCTTGTGGAGTGCCCCTAA... | AGCGAGCCAGGTGGGGACCGGCAGTCAGGGGGTCGACCAGCGGGTGAACGGGGCCTGCTGAACCTAAGGAAAGGACAAAACGCCAGATGGAGGCGGTGTGCAGCTCTTCAATGTTTGTCCCCCTTGGCTGGAATGACCGATGACTTCCTCCTCACCCAGGATGGCTCCTGGTCACCAGGGCTGGATGCACCACCTGGCTACAGGTGGCCCTGCCCCAAAGTGGCTGCCTCCACCTTCAGCAAGAGCTCCAGAGGCCGAGAGAAGTGACGAGCCCACCGCTGATGCAGGCACTCCCTCGTCCGCTTGTGGAGTGCCCCTAA... |
Task1_train_93 | Gene RERE (arginine-glutamic acid dipeptide repeats) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | GAGCCAGGTGGGGACCGGCAGTCAGGGGGTCGACCAGCGGGTGAACGGGGCCTGCTGAACCTAAGGAAAGGACAAAACGCCAGATGGAGGCGGTGTGCAGCTCTTCAATGTTTGTCCCCCTTGGCTGGAATGACCGATGACTTCCTCCTCACCCAGGATGGCTCCTGGTCACCAGGGCTGGATGCACCACCTGGCTACAGGTGGCCCTGCCCCAAAGTGGCTGCCTCCACCTTCAGCAAGAGCTCCAGAGGCCGAGAGAAGTGACGAGCCCACCGCTGATGCAGGCACTCCCTCGTCCGCTTGTGGAGTGCCCCTAACAG... | GAGCCAGGTGGGGACCGGCAGTCAGGGGGTCGACCAGCGGGTGAACGGGGCCTGCTGAACCTAAGGAAAGGACAAAACGCCAGATGGAGGCGGTGTGCAGCTCTTCAATGTTTGTCCCCCTTGGCTGGAATGACCGATGACTTCCTCCTCACCCAGGATGGCTCCTGGTCACCAGGGCTGGATGCACCACCTGGCTACAGGTGGCCCTGCCCCAAAGTGGCTGCCTCCACCTTCAGCAAGAGCTCCAGAGGCCGAGAGAAGTGACGAGCCCACCGCTGATGCAGGCACTCCCTCGTCCGCTTGTGGAGTGCCCCTAACAG... |
Task1_train_94 | Here’s a variant in RERE (arginine-glutamic acid dipeptide repeats) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | CCAGGTGGGGACCGGCAGTCAGGGGGTCGACCAGCGGGTGAACGGGGCCTGCTGAACCTAAGGAAAGGACAAAACGCCAGATGGAGGCGGTGTGCAGCTCTTCAATGTTTGTCCCCCTTGGCTGGAATGACCGATGACTTCCTCCTCACCCAGGATGGCTCCTGGTCACCAGGGCTGGATGCACCACCTGGCTACAGGTGGCCCTGCCCCAAAGTGGCTGCCTCCACCTTCAGCAAGAGCTCCAGAGGCCGAGAGAAGTGACGAGCCCACCGCTGATGCAGGCACTCCCTCGTCCGCTTGTGGAGTGCCCCTAACAGGCA... | CCAGGTGGGGACCGGCAGTCAGGGGGTCGACCAGCGGGTGAACGGGGCCTGCTGAACCTAAGGAAAGGACAAAACGCCAGATGGAGGCGGTGTGCAGCTCTTCAATGTTTGTCCCCCTTGGCTGGAATGACCGATGACTTCCTCCTCACCCAGGATGGCTCCTGGTCACCAGGGCTGGATGCACCACCTGGCTACAGGTGGCCCTGCCCCAAAGTGGCTGCCTCCACCTTCAGCAAGAGCTCCAGAGGCCGAGAGAAGTGACGAGCCCACCGCTGATGCAGGCACTCCCTCGTCCGCTTGTGGAGTGCCCCTAACAGGCA... |
Task1_train_95 | A genomic change on Chromosome 1 affects RERE (arginine-glutamic acid dipeptide repeats). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Inborn genetic diseases | TCGACCAGCGGGTGAACGGGGCCTGCTGAACCTAAGGAAAGGACAAAACGCCAGATGGAGGCGGTGTGCAGCTCTTCAATGTTTGTCCCCCTTGGCTGGAATGACCGATGACTTCCTCCTCACCCAGGATGGCTCCTGGTCACCAGGGCTGGATGCACCACCTGGCTACAGGTGGCCCTGCCCCAAAGTGGCTGCCTCCACCTTCAGCAAGAGCTCCAGAGGCCGAGAGAAGTGACGAGCCCACCGCTGATGCAGGCACTCCCTCGTCCGCTTGTGGAGTGCCCCTAACAGGCAATCCCAGGCCAGTTTTGTCGAGGACC... | TCGACCAGCGGGTGAACGGGGCCTGCTGAACCTAAGGAAAGGACAAAACGCCAGATGGAGGCGGTGTGCAGCTCTTCAATGTTTGTCCCCCTTGGCTGGAATGACCGATGACTTCCTCCTCACCCAGGATGGCTCCTGGTCACCAGGGCTGGATGCACCACCTGGCTACAGGTGGCCCTGCCCCAAAGTGGCTGCCTCCACCTTCAGCAAGAGCTCCAGAGGCCGAGAGAAGTGACGAGCCCACCGCTGATGCAGGCACTCCCTCGTCCGCTTGTGGAGTGCCCCTAACAGGCAATCCCAGGCCAGTTTTGTCGAGGACC... |
Task1_train_96 | This sequence change occurs on Chromosome 1, altering RERE (arginine-glutamic acid dipeptide repeats). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | GCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGG... | GCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGG... |
Task1_train_97 | The gene H6PD (hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Cortisone reductase deficiency 1 | CTCCCCTGCACATTGCCTGGCACAGGTGTGCGCCCGGTAGTGAGGTGGCACTTGTTAGTCTCATCCAAGGGCAGGATGCAGGAACAAAAGTCAAGTAACTTACCCAAGATCACATGCTAGTAAGTGGCAGTCATACTCTGGGGTGCTGCAGCCCCCGCCATGGTGCCATAGCCCCCACAGTGCCGAGCCTCCTACTGGCAGTGGCCAGGCAGGGCGGGGCGAGGGGCTGGCCAGTATCTACAGAGGCAATCTGGCCTTTGCTGGGAATAGAGCTTTCTTCATGTGGATTTCTGTAGAGGCTCACGGATTTGACGCCTTCT... | CTCCCCTGCACATTGCCTGGCACAGGTGTGCGCCCGGTAGTGAGGTGGCACTTGTTAGTCTCATCCAAGGGCAGGATGCAGGAACAAAAGTCAAGTAACTTACCCAAGATCACATGCTAGTAAGTGGCAGTCATACTCTGGGGTGCTGCAGCCCCCGCCATGGTGCCATAGCCCCCACAGTGCCGAGCCTCCTACTGGCAGTGGCCAGGCAGGGCGGGGCGAGGGGCTGGCCAGTATCTACAGAGGCAATCTGGCCTTTGCTGGGAATAGAGCTTTCTTCATGTGGATTTCTGTAGAGGCTCACGGATTTGACGCCTTCT... |
Task1_train_98 | Assess the clinical impact of this variant on gene LOC126805612, PIK3CD (MED14-independent group 3 enhancer GRCh37_chr1:9778914-9780113| phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Immunodeficiency 14 | GAGGTTATGGGGCCAGGTTCAGCCCAGGGATCCGGGACCGCAGAGCTGGGGGAAGGGCCGGGCATGGAAGAGGGGCTGGGTCCAGCTGGGCTGGGGGCTGTGGTGCTCCCTGGAGGCACCAGGGCGGTGCCTGCAGCCTGTGAGGGCTGCACCTGCCTCAACCTCTAGGGGCTGAGCCCACCTCCCTGTTGTCTCTTAACACTTTCACACGCTCCATCGCAACAGCCTGCAGTCATGGGCTTTATTGTCCTGTTTGCTGGACATGATACCTGAGTCCTCAGAGGTTGGCCCTCCTGCCTGGAGTGTGTTTCACTGGGGAA... | GAGGTTATGGGGCCAGGTTCAGCCCAGGGATCCGGGACCGCAGAGCTGGGGGAAGGGCCGGGCATGGAAGAGGGGCTGGGTCCAGCTGGGCTGGGGGCTGTGGTGCTCCCTGGAGGCACCAGGGCGGTGCCTGCAGCCTGTGAGGGCTGCACCTGCCTCAACCTCTAGGGGCTGAGCCCACCTCCCTGTTGTCTCTTAACACTTTCACACGCTCCATCGCAACAGCCTGCAGTCATGGGCTTTATTGTCCTGTTTGCTGGACATGATACCTGAGTCCTCAGAGGTTGGCCCTCCTGCCTGGAGTGTGTTTCACTGGGGAA... |
Task1_train_99 | Given this context: Chromosome 1, gene PIK3CD (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Immunodeficiency 14 | ACGGTGTCCAGCTCGGAGGTGAGCGTGTGCTCGGAGCCCGTGTGGAAGCAGCGGCTGGAGTTCGACATCAACATCTGCGACCTGCCCCGCATGGCCCGTCTCTGCTTTGCGCTGTACGCCGTGATCGAGAAAGCCAAGAAGGCTCGCTCCACCAAGAAGAAGTCCAAGAAGGCGGTGGGTCCCAGGGCCGGCTGGGAGGGGTGCAGACCCCGGAGAGCCAGTACAGCCCCTTGCTGGGCCACTCACCACTCTCCTCCCGGCAAGCACGCAGCCTGGGGATGGGGGTCCTGGGATTGCTTGTGGACCCCAGCCTCCTCACC... | ACGGTGTCCAGCTCGGAGGTGAGCGTGTGCTCGGAGCCCGTGTGGAAGCAGCGGCTGGAGTTCGACATCAACATCTGCGACCTGCCCCGCATGGCCCGTCTCTGCTTTGCGCTGTACGCCGTGATCGAGAAAGCCAAGAAGGCTCGCTCCACCAAGAAGAAGTCCAAGAAGGCGGTGGGTCCCAGGGCCGGCTGGGAGGGGTGCAGACCCCGGAGAGCCAGTACAGCCCCTTGCTGGGCCACTCACCACTCTCCTCCCGGCAAGCACGCAGCCTGGGGATGGGGGTCCTGGGATTGCTTGTGGACCCCAGCCTCCTCACC... |
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