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_17800 | The gene ACVRL1 (activin A receptor like type 1) on Chromosome 12 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | CCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGA... | CCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGA... |
Task1_train_17801 | Here is a genetic alteration in ACVRL1 (activin A receptor like type 1) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; See cases | TAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGG... | TAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGG... |
Task1_train_17802 | This genomic variant is located on Chromosome 12, within the ACVRL1 (activin A receptor like type 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Cardiovascular phenotype | TAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGG... | TAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGG... |
Task1_train_17803 | Gene ACVRL1 (activin A receptor like type 1), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | TAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGG... | TAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGG... |
Task1_train_17804 | Gene ACVRL1 (activin A receptor like type 1) on Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | TAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGG... | TAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGG... |
Task1_train_17805 | Mutation context: Chromosome 12, Gene ACVRL1 (activin A receptor like type 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Cardiovascular phenotype | TAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGG... | TAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGG... |
Task1_train_17806 | A mutation found in ACVRL1 (activin A receptor like type 1) on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | GGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGGCGACAGCATGT... | GGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGGCGACAGCATGT... |
Task1_train_17807 | A mutation on Chromosome 12 affecting ACVRL1 (activin A receptor like type 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Cardiovascular phenotype | GGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGGCGACAGCATGTTGGGGG... | GGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGGCGACAGCATGTTGGGGG... |
Task1_train_17808 | A mutation on Chromosome 12 affecting ACVRL1 (activin A receptor like type 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | GGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGGCGACAGCATGTTGGGGG... | GGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGGCGACAGCATGTTGGGGG... |
Task1_train_17809 | Chromosome 12 houses a mutation in gene ACVRL1 (activin A receptor like type 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | GGTGGAGTGTGTGGGTGAGCAGTGGGTGAGCCCGGTGGATGAGGACCAAGGGCTCTCATGAGCCTGGAGGGGTGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGG... | GGTGGAGTGTGTGGGTGAGCAGTGGGTGAGCCCGGTGGATGAGGACCAAGGGCTCTCATGAGCCTGGAGGGGTGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGG... |
Task1_train_17810 | A variant on Chromosome 12 in gene ACVRL1 (activin A receptor like type 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Cardiovascular phenotype | GGTGGAGTGTGTGGGTGAGCAGTGGGTGAGCCCGGTGGATGAGGACCAAGGGCTCTCATGAGCCTGGAGGGGTGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGG... | GGTGGAGTGTGTGGGTGAGCAGTGGGTGAGCCCGGTGGATGAGGACCAAGGGCTCTCATGAGCCTGGAGGGGTGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGG... |
Task1_train_17811 | A genomic change on Chromosome 12 affects ACVRL1 (activin A receptor like type 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | GGAGTGTGTGGGTGAGCAGTGGGTGAGCCCGGTGGATGAGGACCAAGGGCTCTCATGAGCCTGGAGGGGTGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCT... | GGAGTGTGTGGGTGAGCAGTGGGTGAGCCCGGTGGATGAGGACCAAGGGCTCTCATGAGCCTGGAGGGGTGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCT... |
Task1_train_17812 | An alteration has been detected in ACVRL1 (activin A receptor like type 1) on Chromosome 12. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Cardiovascular phenotype | GTGTGTGGGTGAGCAGTGGGTGAGCCCGGTGGATGAGGACCAAGGGCTCTCATGAGCCTGGAGGGGTGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTT... | GTGTGTGGGTGAGCAGTGGGTGAGCCCGGTGGATGAGGACCAAGGGCTCTCATGAGCCTGGAGGGGTGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTT... |
Task1_train_17813 | Chromosome 12 houses a mutation in gene ACVRL1 (activin A receptor like type 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | GTGTGGGTGAGCAGTGGGTGAGCCCGGTGGATGAGGACCAAGGGCTCTCATGAGCCTGGAGGGGTGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCC... | GTGTGGGTGAGCAGTGGGTGAGCCCGGTGGATGAGGACCAAGGGCTCTCATGAGCCTGGAGGGGTGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCC... |
Task1_train_17814 | Located on Chromosome 12, this mutation impacts ACVRL1 (activin A receptor like type 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | TGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTA... | TGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTA... |
Task1_train_17815 | A variant has been detected on Chromosome 12 in ACVRL1 (activin A receptor like type 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia | GGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGG... | GGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGG... |
Task1_train_17816 | A variant on Chromosome 12 in gene ACVRL1 (activin A receptor like type 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | TTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGT... | TTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGT... |
Task1_train_17817 | A change on Chromosome 12 affects gene ACVRL1 (activin A receptor like type 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | AGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCAC... | AGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCAC... |
Task1_train_17818 | This is a variant in ACVRL1 (activin A receptor like type 1), located on Chromosome 12. Is this mutation a likely cause of disease or not? | Pathogenic; Cardiovascular phenotype | AGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCAC... | AGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCAC... |
Task1_train_17819 | With a mutation on Chromosome 12 in gene ACVRL1 (activin A receptor like type 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | GGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGT... | GGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGT... |
Task1_train_17820 | The gene ACVRL1 (activin A receptor like type 1) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | GAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAA... | GAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAA... |
Task1_train_17821 | Mutation context: Chromosome 12, Gene ACVRL1 (activin A receptor like type 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Cardiovascular phenotype | GAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAA... | GAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAA... |
Task1_train_17822 | A variant has been detected on Chromosome 12 in ACVRL1 (activin A receptor like type 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Cardiovascular phenotype | GAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAA... | GAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAA... |
Task1_train_17823 | Here is a mutation in ACVRL1 (activin A receptor like type 1) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia | TCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGA... | TCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGA... |
Task1_train_17824 | Given a variant located on Chromosome 12 and affecting ACVRL1 (activin A receptor like type 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | TAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGT... | TAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGT... |
Task1_train_17825 | A mutation found in ACVRL1 (activin A receptor like type 1) on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | TGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATT... | TGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATT... |
Task1_train_17826 | A mutation in ACVRL1 (activin A receptor like type 1), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Cardiovascular phenotype | AGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCC... | AGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCC... |
Task1_train_17827 | This variant affects the gene ACVRL1 (activin A receptor like type 1) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | AGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCC... | AGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCC... |
Task1_train_17828 | This mutation is located in gene ACVRL1 (activin A receptor like type 1) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hereditary hemorrhagic telangiectasia | AGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCC... | AGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCC... |
Task1_train_17829 | The variant affects gene ACVRL1 (activin A receptor like type 1), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | GCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCT... | GCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCT... |
Task1_train_17830 | This genomic variant is located on Chromosome 12, within the ACVRL1 (activin A receptor like type 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | AAAGCATGTAAAGTGTTTACAGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTG... | AAAGCATGTAAAGTGTTTACAGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTG... |
Task1_train_17831 | This sequence change occurs on Chromosome 12, altering ACVRL1 (activin A receptor like type 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | AGTGTTTACAGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAG... | AGTGTTTACAGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAG... |
Task1_train_17832 | Assess the clinical impact of this variant on gene ACVRL1 (activin A receptor like type 1), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Cardiovascular phenotype | AGTGTTTACAGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAG... | AGTGTTTACAGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAG... |
Task1_train_17833 | A mutation found in ACVRL1 (activin A receptor like type 1) on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Pulmonary hypertension, primary, 1 | TACAGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCC... | TACAGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCC... |
Task1_train_17834 | This mutation occurs in ACVRL1 (activin A receptor like type 1) on Chromosome 12. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | AGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACC... | AGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACC... |
Task1_train_17835 | A genomic change on Chromosome 12 affects ACVRL1 (activin A receptor like type 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Cardiovascular phenotype | AGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACC... | AGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACC... |
Task1_train_17836 | An alteration has been detected in ACVRL1 (activin A receptor like type 1) on Chromosome 12. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | AGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACC... | AGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACC... |
Task1_train_17837 | A change on Chromosome 12 affects gene ACVRL1 (activin A receptor like type 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not specified | CACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCT... | CACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCT... |
Task1_train_17838 | A variant affecting Chromosome 12, within the gene ACVRL1 (activin A receptor like type 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Cardiovascular phenotype | CACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCT... | CACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCT... |
Task1_train_17839 | This variant affects gene ACVRL1 (activin A receptor like type 1) located on Chromosome 12. Evaluate its biological effect and specify any disease association. | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | CACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCT... | CACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCT... |
Task1_train_17840 | A variant has been detected on Chromosome 12 in ACVRL1 (activin A receptor like type 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia | CACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCT... | CACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCT... |
Task1_train_17841 | A mutation found in ACVRL1 (activin A receptor like type 1) on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Pulmonary arterial hypertension | ACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTG... | ACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTG... |
Task1_train_17842 | The gene ACVRL1 (activin A receptor like type 1) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Epistaxis | ACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTG... | ACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTG... |
Task1_train_17843 | Here is a genetic alteration in ACVRL1 (activin A receptor like type 1) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Cardiovascular phenotype | ACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTG... | ACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTG... |
Task1_train_17844 | This alteration in ACVRL1 (activin A receptor like type 1) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | ACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTG... | ACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTG... |
Task1_train_17845 | Mutation context: Chromosome 12, Gene ACVRL1 (activin A receptor like type 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not specified | ACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTG... | ACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTG... |
Task1_train_17846 | A mutation found in ACVRL1 (activin A receptor like type 1) on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2 | ACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTG... | ACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTG... |
Task1_train_17847 | Assess the clinical impact of this variant on gene ACVR1B (activin A receptor type 1B), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Transposition of the great arteries, dextro-looped | CCTCCCTATGTTTGAGGACCTCATTGACTAGCAAAGGATGACGAGTAAGGGTGATTAGAGGAGGTAAACACGAGTTGTTCTGTTGAGCACAAATTGGGGCTGACTCGCACCTGAGCCCAGTTGAGACAAAGGTGGCAAGAACTGGTCAGGAAGAAAAATCTTCCTTGCAGGGAAGAGCACTGCAGACATGTGCAAAGGTGAGGTTTGGGGCCCAGCAAGTAACTTGGATGGCTGTGGGTGGAGAGGGAGGCAGAGGCCAGATTATGAGGGGCCTTTTTGAGAGGATTGTATTCCATTCTGAAGATAGTGGGTAGTAATTA... | CCTCCCTATGTTTGAGGACCTCATTGACTAGCAAAGGATGACGAGTAAGGGTGATTAGAGGAGGTAAACACGAGTTGTTCTGTTGAGCACAAATTGGGGCTGACTCGCACCTGAGCCCAGTTGAGACAAAGGTGGCAAGAACTGGTCAGGAAGAAAAATCTTCCTTGCAGGGAAGAGCACTGCAGACATGTGCAAAGGTGAGGTTTGGGGCCCAGCAAGTAACTTGGATGGCTGTGGGTGGAGAGGGAGGCAGAGGCCAGATTATGAGGGGCCTTTTTGAGAGGATTGTATTCCATTCTGAAGATAGTGGGTAGTAATTA... |
Task1_train_17848 | This variant lies on Chromosome 12 and affects the gene KRT81, KRT86 (keratin 81| keratin 86). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; MONILETHRIX 2 | GTGGCATGCACCATCTAAACCTTTTACGTATATGAAATCCTTTAACTCATCAACTTATGAGGTGGTTGCCCTTTCTATCATCCTCATTTTGGAGGTGTGGAAACAGGCACAGAGAGGGTAAATACATTGCCCAACCCACTCACCTAGGAAGGACCAGGGCCCAGCTTGGGGCCCAGGCAGTCTGGCTGGAGTCCGTGTCCCCCCTCTATGCCACATCATCTTGCTATGTGCTGTTTTCTGTCTTTGAGGAAAATGTATCAGCTGTGGCAGGTCTCCAAAACCCCAGAGTGATGCCATTTAAAAAAAAAAAAAAGAAAGCC... | GTGGCATGCACCATCTAAACCTTTTACGTATATGAAATCCTTTAACTCATCAACTTATGAGGTGGTTGCCCTTTCTATCATCCTCATTTTGGAGGTGTGGAAACAGGCACAGAGAGGGTAAATACATTGCCCAACCCACTCACCTAGGAAGGACCAGGGCCCAGCTTGGGGCCCAGGCAGTCTGGCTGGAGTCCGTGTCCCCCCTCTATGCCACATCATCTTGCTATGTGCTGTTTTCTGTCTTTGAGGAAAATGTATCAGCTGTGGCAGGTCTCCAAAACCCCAGAGTGATGCCATTTAAAAAAAAAAAAAAGAAAGCC... |
Task1_train_17849 | This variant affects the gene KRT81, KRT86 (keratin 81| keratin 86) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not provided | GAAATCCTTTAACTCATCAACTTATGAGGTGGTTGCCCTTTCTATCATCCTCATTTTGGAGGTGTGGAAACAGGCACAGAGAGGGTAAATACATTGCCCAACCCACTCACCTAGGAAGGACCAGGGCCCAGCTTGGGGCCCAGGCAGTCTGGCTGGAGTCCGTGTCCCCCCTCTATGCCACATCATCTTGCTATGTGCTGTTTTCTGTCTTTGAGGAAAATGTATCAGCTGTGGCAGGTCTCCAAAACCCCAGAGTGATGCCATTTAAAAAAAAAAAAAAGAAAGCCAACATCAAAGGCTTTTTGAAACTTTAAATCATA... | GAAATCCTTTAACTCATCAACTTATGAGGTGGTTGCCCTTTCTATCATCCTCATTTTGGAGGTGTGGAAACAGGCACAGAGAGGGTAAATACATTGCCCAACCCACTCACCTAGGAAGGACCAGGGCCCAGCTTGGGGCCCAGGCAGTCTGGCTGGAGTCCGTGTCCCCCCTCTATGCCACATCATCTTGCTATGTGCTGTTTTCTGTCTTTGAGGAAAATGTATCAGCTGTGGCAGGTCTCCAAAACCCCAGAGTGATGCCATTTAAAAAAAAAAAAAAGAAAGCCAACATCAAAGGCTTTTTGAAACTTTAAATCATA... |
Task1_train_17850 | A mutation on Chromosome 12 affecting KRT86 (keratin 86) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Beaded hair | ACATAGGCCATACAACTGAAACAAAAAGGGCATGTAACAAGTTATTCCCATGACATAAGGTGCAATCTGCTATTTTCTGGTCTATTCTACTCTATTTGATTTTCTCATAATCAATTTCATTAAAATAAAATTCTGGTTGGTTCAATTAGTGGGTCAGAACATGAATTCTGAATAAACACTGCCCCTGAGCCCACCGCTTCCTAATGATTGTAATGAAGCCCATCTGCTCTGTGCTCTGGAGTCCACTGAGCATGTACACATTTCTGTAACTCTAAGGCAGTAGTAGGAGGGAAAGCCTTAACCTATTTCCCAGGAGAGTC... | ACATAGGCCATACAACTGAAACAAAAAGGGCATGTAACAAGTTATTCCCATGACATAAGGTGCAATCTGCTATTTTCTGGTCTATTCTACTCTATTTGATTTTCTCATAATCAATTTCATTAAAATAAAATTCTGGTTGGTTCAATTAGTGGGTCAGAACATGAATTCTGAATAAACACTGCCCCTGAGCCCACCGCTTCCTAATGATTGTAATGAAGCCCATCTGCTCTGTGCTCTGGAGTCCACTGAGCATGTACACATTTCTGTAACTCTAAGGCAGTAGTAGGAGGGAAAGCCTTAACCTATTTCCCAGGAGAGTC... |
Task1_train_17851 | Given this variant in gene KRT86 (keratin 86) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Beaded hair | AACTGAAACAAAAAGGGCATGTAACAAGTTATTCCCATGACATAAGGTGCAATCTGCTATTTTCTGGTCTATTCTACTCTATTTGATTTTCTCATAATCAATTTCATTAAAATAAAATTCTGGTTGGTTCAATTAGTGGGTCAGAACATGAATTCTGAATAAACACTGCCCCTGAGCCCACCGCTTCCTAATGATTGTAATGAAGCCCATCTGCTCTGTGCTCTGGAGTCCACTGAGCATGTACACATTTCTGTAACTCTAAGGCAGTAGTAGGAGGGAAAGCCTTAACCTATTTCCCAGGAGAGTCAAGTGCCTTCCCC... | AACTGAAACAAAAAGGGCATGTAACAAGTTATTCCCATGACATAAGGTGCAATCTGCTATTTTCTGGTCTATTCTACTCTATTTGATTTTCTCATAATCAATTTCATTAAAATAAAATTCTGGTTGGTTCAATTAGTGGGTCAGAACATGAATTCTGAATAAACACTGCCCCTGAGCCCACCGCTTCCTAATGATTGTAATGAAGCCCATCTGCTCTGTGCTCTGGAGTCCACTGAGCATGTACACATTTCTGTAACTCTAAGGCAGTAGTAGGAGGGAAAGCCTTAACCTATTTCCCAGGAGAGTCAAGTGCCTTCCCC... |
Task1_train_17852 | This is a variant in KRT86 (keratin 86), located on Chromosome 12. Is this mutation a likely cause of disease or not? | Pathogenic; Beaded hair | GAGAAGCACAGATCTGTGGGATCTCAGAATGACAGATTCTTCCTGGGGACACACAGGGGGTCTCAACCTCAGCGTGGGGCACAATGACCTTTCCACAGCAGGCTAGGACTGCCCAGATGCAGGCCTTTGTATTGAGCATCCAGGGCCTTGACAAAGGGCAATGACTTGGGAATATCTACCAGCACCTACCTTGGGCAAGGGGATGGCTGCACTGTCCTCTGTGTGTCCTGCTCTGTTCCAGAGGTTGTGGTCTATTGCTGAGGCCCCTGGAGCCATAGCAGATACAATGTCTCTGCTGAGAGACAGTGCAGTCTGTCTAG... | GAGAAGCACAGATCTGTGGGATCTCAGAATGACAGATTCTTCCTGGGGACACACAGGGGGTCTCAACCTCAGCGTGGGGCACAATGACCTTTCCACAGCAGGCTAGGACTGCCCAGATGCAGGCCTTTGTATTGAGCATCCAGGGCCTTGACAAAGGGCAATGACTTGGGAATATCTACCAGCACCTACCTTGGGCAAGGGGATGGCTGCACTGTCCTCTGTGTGTCCTGCTCTGTTCCAGAGGTTGTGGTCTATTGCTGAGGCCCCTGGAGCCATAGCAGATACAATGTCTCTGCTGAGAGACAGTGCAGTCTGTCTAG... |
Task1_train_17853 | A variant has been detected on Chromosome 12 in KRT86 (keratin 86). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Beaded hair | GAGAAGCACAGATCTGTGGGATCTCAGAATGACAGATTCTTCCTGGGGACACACAGGGGGTCTCAACCTCAGCGTGGGGCACAATGACCTTTCCACAGCAGGCTAGGACTGCCCAGATGCAGGCCTTTGTATTGAGCATCCAGGGCCTTGACAAAGGGCAATGACTTGGGAATATCTACCAGCACCTACCTTGGGCAAGGGGATGGCTGCACTGTCCTCTGTGTGTCCTGCTCTGTTCCAGAGGTTGTGGTCTATTGCTGAGGCCCCTGGAGCCATAGCAGATACAATGTCTCTGCTGAGAGACAGTGCAGTCTGTCTAG... | GAGAAGCACAGATCTGTGGGATCTCAGAATGACAGATTCTTCCTGGGGACACACAGGGGGTCTCAACCTCAGCGTGGGGCACAATGACCTTTCCACAGCAGGCTAGGACTGCCCAGATGCAGGCCTTTGTATTGAGCATCCAGGGCCTTGACAAAGGGCAATGACTTGGGAATATCTACCAGCACCTACCTTGGGCAAGGGGATGGCTGCACTGTCCTCTGTGTGTCCTGCTCTGTTCCAGAGGTTGTGGTCTATTGCTGAGGCCCCTGGAGCCATAGCAGATACAATGTCTCTGCTGAGAGACAGTGCAGTCTGTCTAG... |
Task1_train_17854 | The following genetic variant occurs in KRT86 (keratin 86) on Chromosome 12. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | AGATTCTTCCTGGGGACACACAGGGGGTCTCAACCTCAGCGTGGGGCACAATGACCTTTCCACAGCAGGCTAGGACTGCCCAGATGCAGGCCTTTGTATTGAGCATCCAGGGCCTTGACAAAGGGCAATGACTTGGGAATATCTACCAGCACCTACCTTGGGCAAGGGGATGGCTGCACTGTCCTCTGTGTGTCCTGCTCTGTTCCAGAGGTTGTGGTCTATTGCTGAGGCCCCTGGAGCCATAGCAGATACAATGTCTCTGCTGAGAGACAGTGCAGTCTGTCTAGCATTTTGGGGAGTCTGACCTTGAGGCAGAGACA... | AGATTCTTCCTGGGGACACACAGGGGGTCTCAACCTCAGCGTGGGGCACAATGACCTTTCCACAGCAGGCTAGGACTGCCCAGATGCAGGCCTTTGTATTGAGCATCCAGGGCCTTGACAAAGGGCAATGACTTGGGAATATCTACCAGCACCTACCTTGGGCAAGGGGATGGCTGCACTGTCCTCTGTGTGTCCTGCTCTGTTCCAGAGGTTGTGGTCTATTGCTGAGGCCCCTGGAGCCATAGCAGATACAATGTCTCTGCTGAGAGACAGTGCAGTCTGTCTAGCATTTTGGGGAGTCTGACCTTGAGGCAGAGACA... |
Task1_train_17855 | This genomic variant is located on Chromosome 12, within the KRT86 (keratin 86) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Beaded hair | ATTCTTCCTGGGGACACACAGGGGGTCTCAACCTCAGCGTGGGGCACAATGACCTTTCCACAGCAGGCTAGGACTGCCCAGATGCAGGCCTTTGTATTGAGCATCCAGGGCCTTGACAAAGGGCAATGACTTGGGAATATCTACCAGCACCTACCTTGGGCAAGGGGATGGCTGCACTGTCCTCTGTGTGTCCTGCTCTGTTCCAGAGGTTGTGGTCTATTGCTGAGGCCCCTGGAGCCATAGCAGATACAATGTCTCTGCTGAGAGACAGTGCAGTCTGTCTAGCATTTTGGGGAGTCTGACCTTGAGGCAGAGACACA... | ATTCTTCCTGGGGACACACAGGGGGTCTCAACCTCAGCGTGGGGCACAATGACCTTTCCACAGCAGGCTAGGACTGCCCAGATGCAGGCCTTTGTATTGAGCATCCAGGGCCTTGACAAAGGGCAATGACTTGGGAATATCTACCAGCACCTACCTTGGGCAAGGGGATGGCTGCACTGTCCTCTGTGTGTCCTGCTCTGTTCCAGAGGTTGTGGTCTATTGCTGAGGCCCCTGGAGCCATAGCAGATACAATGTCTCTGCTGAGAGACAGTGCAGTCTGTCTAGCATTTTGGGGAGTCTGACCTTGAGGCAGAGACACA... |
Task1_train_17856 | A sequence alteration has been identified in KRT83 (keratin 83) on Chromosome 12. Is it disease-inducing or harmless? | Pathogenic; MONILETHRIX 3 | GCTGCTGGCACTTTTGGTGGTTGTTGCTGTGGTACCTACGTGGAAGGATGGCTGGGGGGCAGAGTGAAGATATGCTAGGAAGAGAAAGTGGGGACCGTGTATGCAAGAAGGGGGCAAAACTCAAACACACACACAAGCACGCATACACGTGCACACATATAAACATGCGCATGCACATGCACTGCCTTCCGGCTGACTTCTGGCCTCCTCGGTCCCCTTCAGAGCCATCCAGACTGACAGGTGTGACAGGTAGAAGGTGCTGTGAGCACAGTCAGCACTGCCTGGCCAGGAGATGACAGAACCATCTGGGGACAAGGCCC... | GCTGCTGGCACTTTTGGTGGTTGTTGCTGTGGTACCTACGTGGAAGGATGGCTGGGGGGCAGAGTGAAGATATGCTAGGAAGAGAAAGTGGGGACCGTGTATGCAAGAAGGGGGCAAAACTCAAACACACACACAAGCACGCATACACGTGCACACATATAAACATGCGCATGCACATGCACTGCCTTCCGGCTGACTTCTGGCCTCCTCGGTCCCCTTCAGAGCCATCCAGACTGACAGGTGTGACAGGTAGAAGGTGCTGTGAGCACAGTCAGCACTGCCTGGCCAGGAGATGACAGAACCATCTGGGGACAAGGCCC... |
Task1_train_17857 | This variant affects gene KRT6B (keratin 6B) located on Chromosome 12. Evaluate its biological effect and specify any disease association. | Pathogenic; Pachyonychia congenita 4 | TTGGCTCACTGCAACCTCCACCTCCCAGACTCAAGTGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGTGCATAACACCATGCCCAGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCTTCTTGTTGACCAGGCTGGTCTCAAACACCTGGCCTTAAGTGATCCACCTGCCTCGACCTCCCAAAGTGCTGGGATTAACAGGTGTGAGCCACCAAGTCCGGCCCCAGGATAAGTTCTTAAGTTCAGCCCATGTATCTTTGAGTTGTGTCAAAACCATTCCAAAACATATGGCACTGCATGGCTTTAAAT... | TTGGCTCACTGCAACCTCCACCTCCCAGACTCAAGTGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGTGCATAACACCATGCCCAGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCTTCTTGTTGACCAGGCTGGTCTCAAACACCTGGCCTTAAGTGATCCACCTGCCTCGACCTCCCAAAGTGCTGGGATTAACAGGTGTGAGCCACCAAGTCCGGCCCCAGGATAAGTTCTTAAGTTCAGCCCATGTATCTTTGAGTTGTGTCAAAACCATTCCAAAACATATGGCACTGCATGGCTTTAAAT... |
Task1_train_17858 | The gene KRT6B (keratin 6B) on Chromosome 12 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Pachyonychia congenita 4 | CTGCAACCTCCACCTCCCAGACTCAAGTGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGTGCATAACACCATGCCCAGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCTTCTTGTTGACCAGGCTGGTCTCAAACACCTGGCCTTAAGTGATCCACCTGCCTCGACCTCCCAAAGTGCTGGGATTAACAGGTGTGAGCCACCAAGTCCGGCCCCAGGATAAGTTCTTAAGTTCAGCCCATGTATCTTTGAGTTGTGTCAAAACCATTCCAAAACATATGGCACTGCATGGCTTTAAATCCATACAC... | CTGCAACCTCCACCTCCCAGACTCAAGTGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGTGCATAACACCATGCCCAGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCTTCTTGTTGACCAGGCTGGTCTCAAACACCTGGCCTTAAGTGATCCACCTGCCTCGACCTCCCAAAGTGCTGGGATTAACAGGTGTGAGCCACCAAGTCCGGCCCCAGGATAAGTTCTTAAGTTCAGCCCATGTATCTTTGAGTTGTGTCAAAACCATTCCAAAACATATGGCACTGCATGGCTTTAAATCCATACAC... |
Task1_train_17859 | This mutation occurs in KRT6A (keratin 6A) on Chromosome 12. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Pachyonychia congenita 3 | GACCTTGAACCTTATTCTGAGTTTTCCCTTCTCCATTCATAGAAGTTAAACCAGGACAGTTCACACCAAAGAGAAGAATAGGACCATCTCTTCTGAGCAACATGGATTTGGTTTCTTTGGATCTCTATCAGAGCCTTAGGCTTGCTATCTGTGGATCTCTAACAGAGCCTTCTCCTATGAGAAGGAGGACATTTTTTTCTTCTACTGTCTTCACTCTTCAAGGAATAAGCATCTGAGTTTTGGCCTGAGTCTTTGAGCTCTTAATTTGACCAACTCGAATGTCTCCAACTTTTCCCTGTTGTGAAGATTCTTGTGATGCA... | GACCTTGAACCTTATTCTGAGTTTTCCCTTCTCCATTCATAGAAGTTAAACCAGGACAGTTCACACCAAAGAGAAGAATAGGACCATCTCTTCTGAGCAACATGGATTTGGTTTCTTTGGATCTCTATCAGAGCCTTAGGCTTGCTATCTGTGGATCTCTAACAGAGCCTTCTCCTATGAGAAGGAGGACATTTTTTTCTTCTACTGTCTTCACTCTTCAAGGAATAAGCATCTGAGTTTTGGCCTGAGTCTTTGAGCTCTTAATTTGACCAACTCGAATGTCTCCAACTTTTCCCTGTTGTGAAGATTCTTGTGATGCA... |
Task1_train_17860 | The gene KRT6A (keratin 6A), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Pachyonychia congenita 3 | GACCTTGAACCTTATTCTGAGTTTTCCCTTCTCCATTCATAGAAGTTAAACCAGGACAGTTCACACCAAAGAGAAGAATAGGACCATCTCTTCTGAGCAACATGGATTTGGTTTCTTTGGATCTCTATCAGAGCCTTAGGCTTGCTATCTGTGGATCTCTAACAGAGCCTTCTCCTATGAGAAGGAGGACATTTTTTTCTTCTACTGTCTTCACTCTTCAAGGAATAAGCATCTGAGTTTTGGCCTGAGTCTTTGAGCTCTTAATTTGACCAACTCGAATGTCTCCAACTTTTCCCTGTTGTGAAGATTCTTGTGATGCA... | GACCTTGAACCTTATTCTGAGTTTTCCCTTCTCCATTCATAGAAGTTAAACCAGGACAGTTCACACCAAAGAGAAGAATAGGACCATCTCTTCTGAGCAACATGGATTTGGTTTCTTTGGATCTCTATCAGAGCCTTAGGCTTGCTATCTGTGGATCTCTAACAGAGCCTTCTCCTATGAGAAGGAGGACATTTTTTTCTTCTACTGTCTTCACTCTTCAAGGAATAAGCATCTGAGTTTTGGCCTGAGTCTTTGAGCTCTTAATTTGACCAACTCGAATGTCTCCAACTTTTCCCTGTTGTGAAGATTCTTGTGATGCA... |
Task1_train_17861 | This alteration occurs within gene KRT6A (keratin 6A) located on Chromosome 12. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | ATTCTGAGTTTTCCCTTCTCCATTCATAGAAGTTAAACCAGGACAGTTCACACCAAAGAGAAGAATAGGACCATCTCTTCTGAGCAACATGGATTTGGTTTCTTTGGATCTCTATCAGAGCCTTAGGCTTGCTATCTGTGGATCTCTAACAGAGCCTTCTCCTATGAGAAGGAGGACATTTTTTTCTTCTACTGTCTTCACTCTTCAAGGAATAAGCATCTGAGTTTTGGCCTGAGTCTTTGAGCTCTTAATTTGACCAACTCGAATGTCTCCAACTTTTCCCTGTTGTGAAGATTCTTGTGATGCACATCTGTGTGCAT... | ATTCTGAGTTTTCCCTTCTCCATTCATAGAAGTTAAACCAGGACAGTTCACACCAAAGAGAAGAATAGGACCATCTCTTCTGAGCAACATGGATTTGGTTTCTTTGGATCTCTATCAGAGCCTTAGGCTTGCTATCTGTGGATCTCTAACAGAGCCTTCTCCTATGAGAAGGAGGACATTTTTTTCTTCTACTGTCTTCACTCTTCAAGGAATAAGCATCTGAGTTTTGGCCTGAGTCTTTGAGCTCTTAATTTGACCAACTCGAATGTCTCCAACTTTTCCCTGTTGTGAAGATTCTTGTGATGCACATCTGTGTGCAT... |
Task1_train_17862 | Located on Chromosome 12, this mutation impacts KRT6A (keratin 6A). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not provided | AGTTTTCCCTTCTCCATTCATAGAAGTTAAACCAGGACAGTTCACACCAAAGAGAAGAATAGGACCATCTCTTCTGAGCAACATGGATTTGGTTTCTTTGGATCTCTATCAGAGCCTTAGGCTTGCTATCTGTGGATCTCTAACAGAGCCTTCTCCTATGAGAAGGAGGACATTTTTTTCTTCTACTGTCTTCACTCTTCAAGGAATAAGCATCTGAGTTTTGGCCTGAGTCTTTGAGCTCTTAATTTGACCAACTCGAATGTCTCCAACTTTTCCCTGTTGTGAAGATTCTTGTGATGCACATCTGTGTGCATACACCT... | AGTTTTCCCTTCTCCATTCATAGAAGTTAAACCAGGACAGTTCACACCAAAGAGAAGAATAGGACCATCTCTTCTGAGCAACATGGATTTGGTTTCTTTGGATCTCTATCAGAGCCTTAGGCTTGCTATCTGTGGATCTCTAACAGAGCCTTCTCCTATGAGAAGGAGGACATTTTTTTCTTCTACTGTCTTCACTCTTCAAGGAATAAGCATCTGAGTTTTGGCCTGAGTCTTTGAGCTCTTAATTTGACCAACTCGAATGTCTCCAACTTTTCCCTGTTGTGAAGATTCTTGTGATGCACATCTGTGTGCATACACCT... |
Task1_train_17863 | This sequence variant lies in KRT6A (keratin 6A) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Pachyonychia congenita 3 | CTCATATTGGGCCTTGACCTCAGCGATGATGCTGTCCAGGTCCAGGTTGCGGTTGTTGTCCATGGACAGCACCACAGATGTGTCTGAGATGTGGGTCTGCATCTGGGACAGCTCCTGCAGAACAGAAGGTCATAAGATCAACTTCACTTCCGATATTTACAGAGATACCCAACCCTATACATCTTCTCCCCTTTGCAGACCCCATCAGAGTAAACAGAAGGATGGTGGAGATGCTTACTGCATCATACAAGGCTCTCAGGAAGTTGATCTCGTCTGTGAGAGTGTCTGCCTTGGCTTGCAGTTCAACCTTGTTCATGTAG... | CTCATATTGGGCCTTGACCTCAGCGATGATGCTGTCCAGGTCCAGGTTGCGGTTGTTGTCCATGGACAGCACCACAGATGTGTCTGAGATGTGGGTCTGCATCTGGGACAGCTCCTGCAGAACAGAAGGTCATAAGATCAACTTCACTTCCGATATTTACAGAGATACCCAACCCTATACATCTTCTCCCCTTTGCAGACCCCATCAGAGTAAACAGAAGGATGGTGGAGATGCTTACTGCATCATACAAGGCTCTCAGGAAGTTGATCTCGTCTGTGAGAGTGTCTGCCTTGGCTTGCAGTTCAACCTTGTTCATGTAG... |
Task1_train_17864 | The gene KRT6A (keratin 6A) on Chromosome 12 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Pachyonychia congenita 3 | TCATATTGGGCCTTGACCTCAGCGATGATGCTGTCCAGGTCCAGGTTGCGGTTGTTGTCCATGGACAGCACCACAGATGTGTCTGAGATGTGGGTCTGCATCTGGGACAGCTCCTGCAGAACAGAAGGTCATAAGATCAACTTCACTTCCGATATTTACAGAGATACCCAACCCTATACATCTTCTCCCCTTTGCAGACCCCATCAGAGTAAACAGAAGGATGGTGGAGATGCTTACTGCATCATACAAGGCTCTCAGGAAGTTGATCTCGTCTGTGAGAGTGTCTGCCTTGGCTTGCAGTTCAACCTTGTTCATGTAGG... | TCATATTGGGCCTTGACCTCAGCGATGATGCTGTCCAGGTCCAGGTTGCGGTTGTTGTCCATGGACAGCACCACAGATGTGTCTGAGATGTGGGTCTGCATCTGGGACAGCTCCTGCAGAACAGAAGGTCATAAGATCAACTTCACTTCCGATATTTACAGAGATACCCAACCCTATACATCTTCTCCCCTTTGCAGACCCCATCAGAGTAAACAGAAGGATGGTGGAGATGCTTACTGCATCATACAAGGCTCTCAGGAAGTTGATCTCGTCTGTGAGAGTGTCTGCCTTGGCTTGCAGTTCAACCTTGTTCATGTAGG... |
Task1_train_17865 | Consider this mutation in KRT6A (keratin 6A) on Chromosome 12. Is this a benign change or a disease-causing variant? | Pathogenic; Pachyonychia congenita 3 | GGGCCTTGACCTCAGCGATGATGCTGTCCAGGTCCAGGTTGCGGTTGTTGTCCATGGACAGCACCACAGATGTGTCTGAGATGTGGGTCTGCATCTGGGACAGCTCCTGCAGAACAGAAGGTCATAAGATCAACTTCACTTCCGATATTTACAGAGATACCCAACCCTATACATCTTCTCCCCTTTGCAGACCCCATCAGAGTAAACAGAAGGATGGTGGAGATGCTTACTGCATCATACAAGGCTCTCAGGAAGTTGATCTCGTCTGTGAGAGTGTCTGCCTTGGCTTGCAGTTCAACCTTGTTCATGTAGGCAGCATC... | GGGCCTTGACCTCAGCGATGATGCTGTCCAGGTCCAGGTTGCGGTTGTTGTCCATGGACAGCACCACAGATGTGTCTGAGATGTGGGTCTGCATCTGGGACAGCTCCTGCAGAACAGAAGGTCATAAGATCAACTTCACTTCCGATATTTACAGAGATACCCAACCCTATACATCTTCTCCCCTTTGCAGACCCCATCAGAGTAAACAGAAGGATGGTGGAGATGCTTACTGCATCATACAAGGCTCTCAGGAAGTTGATCTCGTCTGTGAGAGTGTCTGCCTTGGCTTGCAGTTCAACCTTGTTCATGTAGGCAGCATC... |
Task1_train_17866 | A mutation found in KRT6A (keratin 6A) on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Pachyonychia congenita 3 | GGCCTTGACCTCAGCGATGATGCTGTCCAGGTCCAGGTTGCGGTTGTTGTCCATGGACAGCACCACAGATGTGTCTGAGATGTGGGTCTGCATCTGGGACAGCTCCTGCAGAACAGAAGGTCATAAGATCAACTTCACTTCCGATATTTACAGAGATACCCAACCCTATACATCTTCTCCCCTTTGCAGACCCCATCAGAGTAAACAGAAGGATGGTGGAGATGCTTACTGCATCATACAAGGCTCTCAGGAAGTTGATCTCGTCTGTGAGAGTGTCTGCCTTGGCTTGCAGTTCAACCTTGTTCATGTAGGCAGCATCC... | GGCCTTGACCTCAGCGATGATGCTGTCCAGGTCCAGGTTGCGGTTGTTGTCCATGGACAGCACCACAGATGTGTCTGAGATGTGGGTCTGCATCTGGGACAGCTCCTGCAGAACAGAAGGTCATAAGATCAACTTCACTTCCGATATTTACAGAGATACCCAACCCTATACATCTTCTCCCCTTTGCAGACCCCATCAGAGTAAACAGAAGGATGGTGGAGATGCTTACTGCATCATACAAGGCTCTCAGGAAGTTGATCTCGTCTGTGAGAGTGTCTGCCTTGGCTTGCAGTTCAACCTTGTTCATGTAGGCAGCATCC... |
Task1_train_17867 | Gene KRT6A (keratin 6A), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | GCCTTGACCTCAGCGATGATGCTGTCCAGGTCCAGGTTGCGGTTGTTGTCCATGGACAGCACCACAGATGTGTCTGAGATGTGGGTCTGCATCTGGGACAGCTCCTGCAGAACAGAAGGTCATAAGATCAACTTCACTTCCGATATTTACAGAGATACCCAACCCTATACATCTTCTCCCCTTTGCAGACCCCATCAGAGTAAACAGAAGGATGGTGGAGATGCTTACTGCATCATACAAGGCTCTCAGGAAGTTGATCTCGTCTGTGAGAGTGTCTGCCTTGGCTTGCAGTTCAACCTTGTTCATGTAGGCAGCATCCA... | GCCTTGACCTCAGCGATGATGCTGTCCAGGTCCAGGTTGCGGTTGTTGTCCATGGACAGCACCACAGATGTGTCTGAGATGTGGGTCTGCATCTGGGACAGCTCCTGCAGAACAGAAGGTCATAAGATCAACTTCACTTCCGATATTTACAGAGATACCCAACCCTATACATCTTCTCCCCTTTGCAGACCCCATCAGAGTAAACAGAAGGATGGTGGAGATGCTTACTGCATCATACAAGGCTCTCAGGAAGTTGATCTCGTCTGTGAGAGTGTCTGCCTTGGCTTGCAGTTCAACCTTGTTCATGTAGGCAGCATCCA... |
Task1_train_17868 | Here is a variant affecting KRT6A (keratin 6A) on Chromosome 12. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | GCCTTGACCTCAGCGATGATGCTGTCCAGGTCCAGGTTGCGGTTGTTGTCCATGGACAGCACCACAGATGTGTCTGAGATGTGGGTCTGCATCTGGGACAGCTCCTGCAGAACAGAAGGTCATAAGATCAACTTCACTTCCGATATTTACAGAGATACCCAACCCTATACATCTTCTCCCCTTTGCAGACCCCATCAGAGTAAACAGAAGGATGGTGGAGATGCTTACTGCATCATACAAGGCTCTCAGGAAGTTGATCTCGTCTGTGAGAGTGTCTGCCTTGGCTTGCAGTTCAACCTTGTTCATGTAGGCAGCATCCA... | GCCTTGACCTCAGCGATGATGCTGTCCAGGTCCAGGTTGCGGTTGTTGTCCATGGACAGCACCACAGATGTGTCTGAGATGTGGGTCTGCATCTGGGACAGCTCCTGCAGAACAGAAGGTCATAAGATCAACTTCACTTCCGATATTTACAGAGATACCCAACCCTATACATCTTCTCCCCTTTGCAGACCCCATCAGAGTAAACAGAAGGATGGTGGAGATGCTTACTGCATCATACAAGGCTCTCAGGAAGTTGATCTCGTCTGTGAGAGTGTCTGCCTTGGCTTGCAGTTCAACCTTGTTCATGTAGGCAGCATCCA... |
Task1_train_17869 | A variant has been detected on Chromosome 12 in KRT6A (keratin 6A). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | TTGACCTCAGCGATGATGCTGTCCAGGTCCAGGTTGCGGTTGTTGTCCATGGACAGCACCACAGATGTGTCTGAGATGTGGGTCTGCATCTGGGACAGCTCCTGCAGAACAGAAGGTCATAAGATCAACTTCACTTCCGATATTTACAGAGATACCCAACCCTATACATCTTCTCCCCTTTGCAGACCCCATCAGAGTAAACAGAAGGATGGTGGAGATGCTTACTGCATCATACAAGGCTCTCAGGAAGTTGATCTCGTCTGTGAGAGTGTCTGCCTTGGCTTGCAGTTCAACCTTGTTCATGTAGGCAGCATCCACAT... | TTGACCTCAGCGATGATGCTGTCCAGGTCCAGGTTGCGGTTGTTGTCCATGGACAGCACCACAGATGTGTCTGAGATGTGGGTCTGCATCTGGGACAGCTCCTGCAGAACAGAAGGTCATAAGATCAACTTCACTTCCGATATTTACAGAGATACCCAACCCTATACATCTTCTCCCCTTTGCAGACCCCATCAGAGTAAACAGAAGGATGGTGGAGATGCTTACTGCATCATACAAGGCTCTCAGGAAGTTGATCTCGTCTGTGAGAGTGTCTGCCTTGGCTTGCAGTTCAACCTTGTTCATGTAGGCAGCATCCACAT... |
Task1_train_17870 | Gene KRT6A (keratin 6A) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; not provided | CTGTCCAGGTCCAGGTTGCGGTTGTTGTCCATGGACAGCACCACAGATGTGTCTGAGATGTGGGTCTGCATCTGGGACAGCTCCTGCAGAACAGAAGGTCATAAGATCAACTTCACTTCCGATATTTACAGAGATACCCAACCCTATACATCTTCTCCCCTTTGCAGACCCCATCAGAGTAAACAGAAGGATGGTGGAGATGCTTACTGCATCATACAAGGCTCTCAGGAAGTTGATCTCGTCTGTGAGAGTGTCTGCCTTGGCTTGCAGTTCAACCTTGTTCATGTAGGCAGCATCCACATCCTGGGGAAAGAGCCAAC... | CTGTCCAGGTCCAGGTTGCGGTTGTTGTCCATGGACAGCACCACAGATGTGTCTGAGATGTGGGTCTGCATCTGGGACAGCTCCTGCAGAACAGAAGGTCATAAGATCAACTTCACTTCCGATATTTACAGAGATACCCAACCCTATACATCTTCTCCCCTTTGCAGACCCCATCAGAGTAAACAGAAGGATGGTGGAGATGCTTACTGCATCATACAAGGCTCTCAGGAAGTTGATCTCGTCTGTGAGAGTGTCTGCCTTGGCTTGCAGTTCAACCTTGTTCATGTAGGCAGCATCCACATCCTGGGGAAAGAGCCAAC... |
Task1_train_17871 | A variant found in Chromosome 12 affects KRT6A (keratin 6A). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | TCCAGGTCCAGGTTGCGGTTGTTGTCCATGGACAGCACCACAGATGTGTCTGAGATGTGGGTCTGCATCTGGGACAGCTCCTGCAGAACAGAAGGTCATAAGATCAACTTCACTTCCGATATTTACAGAGATACCCAACCCTATACATCTTCTCCCCTTTGCAGACCCCATCAGAGTAAACAGAAGGATGGTGGAGATGCTTACTGCATCATACAAGGCTCTCAGGAAGTTGATCTCGTCTGTGAGAGTGTCTGCCTTGGCTTGCAGTTCAACCTTGTTCATGTAGGCAGCATCCACATCCTGGGGAAAGAGCCAACAAC... | TCCAGGTCCAGGTTGCGGTTGTTGTCCATGGACAGCACCACAGATGTGTCTGAGATGTGGGTCTGCATCTGGGACAGCTCCTGCAGAACAGAAGGTCATAAGATCAACTTCACTTCCGATATTTACAGAGATACCCAACCCTATACATCTTCTCCCCTTTGCAGACCCCATCAGAGTAAACAGAAGGATGGTGGAGATGCTTACTGCATCATACAAGGCTCTCAGGAAGTTGATCTCGTCTGTGAGAGTGTCTGCCTTGGCTTGCAGTTCAACCTTGTTCATGTAGGCAGCATCCACATCCTGGGGAAAGAGCCAACAAC... |
Task1_train_17872 | Gene KRT5, LOC126861525 (keratin 5| BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056) on Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Epidermolysis bullosa simplex 1C, localized | AACACATTCTGGAGGTAGTTAGAACCAAAACAAAATTTGGGATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGA... | AACACATTCTGGAGGTAGTTAGAACCAAAACAAAATTTGGGATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGA... |
Task1_train_17873 | This sequence variant lies in KRT5, LOC126861525 (keratin 5| BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Epidermolysis bullosa simplex with mottled pigmentation | AACACATTCTGGAGGTAGTTAGAACCAAAACAAAATTTGGGATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGA... | AACACATTCTGGAGGTAGTTAGAACCAAAACAAAATTTGGGATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGA... |
Task1_train_17874 | A variant has been detected on Chromosome 12 in KRT5, LOC126861525 (keratin 5| BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Epidermolysis bullosa simplex | AACACATTCTGGAGGTAGTTAGAACCAAAACAAAATTTGGGATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGA... | AACACATTCTGGAGGTAGTTAGAACCAAAACAAAATTTGGGATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGA... |
Task1_train_17875 | Here is a mutation in KRT5, LOC126861525 (keratin 5| BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Epidermolysis bullosa simplex 1A, generalized severe | CACATTCTGGAGGTAGTTAGAACCAAAACAAAATTTGGGATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAG... | CACATTCTGGAGGTAGTTAGAACCAAAACAAAATTTGGGATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAG... |
Task1_train_17876 | Mutation context: Chromosome 12, Gene KRT5, LOC126861525 (keratin 5| BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Epidermolysis bullosa simplex 2B, generalized intermediate | CACATTCTGGAGGTAGTTAGAACCAAAACAAAATTTGGGATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAG... | CACATTCTGGAGGTAGTTAGAACCAAAACAAAATTTGGGATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAG... |
Task1_train_17877 | The following genetic variant occurs in KRT5, LOC126861525 (keratin 5| BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056) on Chromosome 12. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Epidermolysis bullosa simplex 2A, generalized severe | ATTCTGGAGGTAGTTAGAACCAAAACAAAATTTGGGATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAGGCA... | ATTCTGGAGGTAGTTAGAACCAAAACAAAATTTGGGATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAGGCA... |
Task1_train_17878 | The gene KRT5, LOC126861525 (keratin 5| BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | GAACCAAAACAAAATTTGGGATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAGGCAGTGACTTGCAGCAGGT... | GAACCAAAACAAAATTTGGGATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAGGCAGTGACTTGCAGCAGGT... |
Task1_train_17879 | A mutation found in KRT5, LOC126861525 (keratin 5| BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056) on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Epidermolysis bullosa simplex | ACCAAAACAAAATTTGGGATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAGGCAGTGACTTGCAGCAGGTTC... | ACCAAAACAAAATTTGGGATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAGGCAGTGACTTGCAGCAGGTTC... |
Task1_train_17880 | This variant impacts the gene KRT5, LOC126861525 (keratin 5| BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056) on Chromosome 12. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | ACAAAATTTGGGATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAGGCAGTGACTTGCAGCAGGTTCTTAGCT... | ACAAAATTTGGGATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAGGCAGTGACTTGCAGCAGGTTCTTAGCT... |
Task1_train_17881 | This variant lies on Chromosome 12 and affects the gene KRT5, LOC126861525 (keratin 5| BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Epidermolysis bullosa simplex | AATTTGGGATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAGGCAGTGACTTGCAGCAGGTTCTTAGCTCTTG... | AATTTGGGATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAGGCAGTGACTTGCAGCAGGTTCTTAGCTCTTG... |
Task1_train_17882 | This alteration in KRT5, LOC126861525 (keratin 5| BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Epidermolysis bullosa simplex | ATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAGGCAGTGACTTGCAGCAGGTTCTTAGCTCTTGAAGCTCTT... | ATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAGGCAGTGACTTGCAGCAGGTTCTTAGCTCTTGAAGCTCTT... |
Task1_train_17883 | A variant has been detected on Chromosome 12 in KRT5, LOC126861525 (keratin 5| BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Epidermolysis bullosa simplex | AATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAGGCAGTGACTTGCAGCAGGTTCTTAGCTCTTGAAGCTCTTCCGGGAGGAGGAGGTGGTGGAGACAAATTTGACGCTGGAGCTGCTACCCCCGCCACTGCCAAAGCCCACCCCCAGCCCTCGGCCACTGCTTGCACTGAAGCCAGA... | AATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAGGCAGTGACTTGCAGCAGGTTCTTAGCTCTTGAAGCTCTTCCGGGAGGAGGAGGTGGTGGAGACAAATTTGACGCTGGAGCTGCTACCCCCGCCACTGCCAAAGCCCACCCCCAGCCCTCGGCCACTGCTTGCACTGAAGCCAGA... |
Task1_train_17884 | Here’s a variant in KRT5, LOC126861525 (keratin 5| BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Epidermolysis bullosa simplex | ATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAGGCAGTGACTTGCAGCAGGTTCTTAGCTCTTGAAGCTCTTCCGGGAGGAGGAGGTGGTGGAGACAAATTTGACGCTGGAGCTGCTACCCCCGCCACTGCCAAAGCCCACCCCCAGCCCTCGGCCACTGCTTGCACTGAAGCCAGAG... | ATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAGGCAGTGACTTGCAGCAGGTTCTTAGCTCTTGAAGCTCTTCCGGGAGGAGGAGGTGGTGGAGACAAATTTGACGCTGGAGCTGCTACCCCCGCCACTGCCAAAGCCCACCCCCAGCCCTCGGCCACTGCTTGCACTGAAGCCAGAG... |
Task1_train_17885 | A mutation on Chromosome 12 affecting KRT5 (keratin 5) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Epidermolysis bullosa simplex 1C, localized | TCCCCTCCACCACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCT... | TCCCCTCCACCACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCT... |
Task1_train_17886 | With a mutation on Chromosome 12 in gene KRT5 (keratin 5), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Epidermolysis bullosa simplex 2C, localized | CTCCACCACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAG... | CTCCACCACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAG... |
Task1_train_17887 | This gene mutation involves KRT5 (keratin 5) on Chromosome 12. Is it associated with any clinical condition, or is it benign? | Pathogenic; Epidermolysis bullosa simplex | ACCACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAA... | ACCACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAA... |
Task1_train_17888 | The gene KRT5 (keratin 5) is located on Chromosome 12, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive | ACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGG... | ACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGG... |
Task1_train_17889 | Given this variant in gene KRT5 (keratin 5) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Epidermolysis bullosa simplex, Koebner type | ACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGG... | ACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGG... |
Task1_train_17890 | The variant affects gene KRT5 (keratin 5), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Epidermolysis bullosa simplex 1C, localized | ACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGG... | ACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGG... |
Task1_train_17891 | A genetic alteration is present in KRT5 (keratin 5) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Epidermolysis bullosa simplex with mottled pigmentation | ACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGG... | ACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGG... |
Task1_train_17892 | The gene KRT5 (keratin 5) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Epidermolysis bullosa simplex 1A, generalized severe | ACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGG... | ACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGG... |
Task1_train_17893 | The gene KRT5 (keratin 5) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Dowling-Degos disease 1 | ACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGG... | ACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGG... |
Task1_train_17894 | An alteration has been detected in KRT5 (keratin 5) on Chromosome 12. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Epidermolysis bullosa simplex with migratory circinate erythema | ACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGG... | ACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGG... |
Task1_train_17895 | Chromosome 12 houses a mutation in gene KRT5 (keratin 5). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Epidermolysis bullosa simplex, Koebner type | ACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGG... | ACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGG... |
Task1_train_17896 | Given this variant in gene KRT5 (keratin 5) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Epidermolysis bullosa simplex | TATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAG... | TATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAG... |
Task1_train_17897 | Consider this mutation in KRT5, LOC126861526 (keratin 5| BRD4-independent group 4 enhancer GRCh37_chr12:52912066-52913265) on Chromosome 12. Is this a benign change or a disease-causing variant? | Pathogenic; Epidermolysis bullosa | GGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAG... | GGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAG... |
Task1_train_17898 | A genomic change on Chromosome 12 affects KRT5, LOC126861526 (keratin 5| BRD4-independent group 4 enhancer GRCh37_chr12:52912066-52913265). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Epidermolysis bullosa simplex | CTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTC... | CTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTC... |
Task1_train_17899 | This sequence variant lies in LOC126861526, KRT5 (BRD4-independent group 4 enhancer GRCh37_chr12:52912066-52913265| keratin 5) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Epidermolysis bullosa simplex | CTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAG... | CTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAG... |
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