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_13200 | A variant found in Chromosome 9 affects STXBP1 (syntaxin binding protein 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Epileptic encephalopathy | GTTTCAACATTATAAAACCATGGTTCAAATTCTAAGCGAAGAGAAGATGTTAAAAGATTCTGAAGCCGGCTGGGCGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGACGGGCGGATCATGAAGTCAGGAGTTCAAGACCAGCTTGGGCAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAATTGGGCGTGGTAGCTGGCGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTCGAACTCGGGAGGCGGAGGTTGCAGTGAACAGAGATTGCTCCACTGCACTCCAGC... | GTTTCAACATTATAAAACCATGGTTCAAATTCTAAGCGAAGAGAAGATGTTAAAAGATTCTGAAGCCGGCTGGGCGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGACGGGCGGATCATGAAGTCAGGAGTTCAAGACCAGCTTGGGCAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAATTGGGCGTGGTAGCTGGCGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTCGAACTCGGGAGGCGGAGGTTGCAGTGAACAGAGATTGCTCCACTGCACTCCAGC... |
Task1_train_13201 | Given a variant located on Chromosome 9 and affecting STXBP1 (syntaxin binding protein 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Developmental and epileptic encephalopathy, 4 | GTTTCAACATTATAAAACCATGGTTCAAATTCTAAGCGAAGAGAAGATGTTAAAAGATTCTGAAGCCGGCTGGGCGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGACGGGCGGATCATGAAGTCAGGAGTTCAAGACCAGCTTGGGCAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAATTGGGCGTGGTAGCTGGCGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTCGAACTCGGGAGGCGGAGGTTGCAGTGAACAGAGATTGCTCCACTGCACTCCAGC... | GTTTCAACATTATAAAACCATGGTTCAAATTCTAAGCGAAGAGAAGATGTTAAAAGATTCTGAAGCCGGCTGGGCGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGACGGGCGGATCATGAAGTCAGGAGTTCAAGACCAGCTTGGGCAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAATTGGGCGTGGTAGCTGGCGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTCGAACTCGGGAGGCGGAGGTTGCAGTGAACAGAGATTGCTCCACTGCACTCCAGC... |
Task1_train_13202 | This sequence variant lies in STXBP1 (syntaxin binding protein 1) on Chromosome 9. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GTTTCAACATTATAAAACCATGGTTCAAATTCTAAGCGAAGAGAAGATGTTAAAAGATTCTGAAGCCGGCTGGGCGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGACGGGCGGATCATGAAGTCAGGAGTTCAAGACCAGCTTGGGCAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAATTGGGCGTGGTAGCTGGCGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTCGAACTCGGGAGGCGGAGGTTGCAGTGAACAGAGATTGCTCCACTGCACTCCAGC... | GTTTCAACATTATAAAACCATGGTTCAAATTCTAAGCGAAGAGAAGATGTTAAAAGATTCTGAAGCCGGCTGGGCGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGACGGGCGGATCATGAAGTCAGGAGTTCAAGACCAGCTTGGGCAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAATTGGGCGTGGTAGCTGGCGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTCGAACTCGGGAGGCGGAGGTTGCAGTGAACAGAGATTGCTCCACTGCACTCCAGC... |
Task1_train_13203 | This alteration occurs within gene STXBP1 (syntaxin binding protein 1) located on Chromosome 9. Is it associated with a disease or is it a benign variant? | Pathogenic; Developmental and epileptic encephalopathy, 4 | AAGCGAAGAGAAGATGTTAAAAGATTCTGAAGCCGGCTGGGCGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGACGGGCGGATCATGAAGTCAGGAGTTCAAGACCAGCTTGGGCAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAATTGGGCGTGGTAGCTGGCGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTCGAACTCGGGAGGCGGAGGTTGCAGTGAACAGAGATTGCTCCACTGCACTCCAGCCTGGGCAACAGAACGAGACTCTGTCTCAAAAAT... | AAGCGAAGAGAAGATGTTAAAAGATTCTGAAGCCGGCTGGGCGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGACGGGCGGATCATGAAGTCAGGAGTTCAAGACCAGCTTGGGCAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAATTGGGCGTGGTAGCTGGCGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTCGAACTCGGGAGGCGGAGGTTGCAGTGAACAGAGATTGCTCCACTGCACTCCAGCCTGGGCAACAGAACGAGACTCTGTCTCAAAAAT... |
Task1_train_13204 | An alteration has been detected in STXBP1 (syntaxin binding protein 1) on Chromosome 9. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | AACGGCCTGTGAGAGGTGTCCTGCCTTCCTGGGACACAGACTGGAGAGAGACTATGAACTCGAGATCAGAATTTGTATGGACTCTTGGGATCTTGAGAGAAAAAAAGAGAGCCTTCAGGCAACCTCCTAAGAGCCACAAAGGAAGCTGCAGCTGTGAGTCCTGGTTGGCTGAGACCAGCGTGCTGCCTTCTCTGGATCTGAGTCTTGCCTGCATCATGAAGCGGGGCCAGGAACTTGTGTTCACTTCACTCTTTTTCATGTCTAGTTCTTTTTCAGCCCATATCTTCCCCTTCATCTCCTGGGGTTTGGATTTGCTGGTT... | AACGGCCTGTGAGAGGTGTCCTGCCTTCCTGGGACACAGACTGGAGAGAGACTATGAACTCGAGATCAGAATTTGTATGGACTCTTGGGATCTTGAGAGAAAAAAAGAGAGCCTTCAGGCAACCTCCTAAGAGCCACAAAGGAAGCTGCAGCTGTGAGTCCTGGTTGGCTGAGACCAGCGTGCTGCCTTCTCTGGATCTGAGTCTTGCCTGCATCATGAAGCGGGGCCAGGAACTTGTGTTCACTTCACTCTTTTTCATGTCTAGTTCTTTTTCAGCCCATATCTTCCCCTTCATCTCCTGGGGTTTGGATTTGCTGGTT... |
Task1_train_13205 | This variant lies on Chromosome 9 and affects the gene STXBP1 (syntaxin binding protein 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Developmental and epileptic encephalopathy, 4 | CTATGAACTCGAGATCAGAATTTGTATGGACTCTTGGGATCTTGAGAGAAAAAAAGAGAGCCTTCAGGCAACCTCCTAAGAGCCACAAAGGAAGCTGCAGCTGTGAGTCCTGGTTGGCTGAGACCAGCGTGCTGCCTTCTCTGGATCTGAGTCTTGCCTGCATCATGAAGCGGGGCCAGGAACTTGTGTTCACTTCACTCTTTTTCATGTCTAGTTCTTTTTCAGCCCATATCTTCCCCTTCATCTCCTGGGGTTTGGATTTGCTGGTTTGGGGGCTCTTTTTTTCCCTTCCTCACTCATGAAACATGGTAGAAAGATTA... | CTATGAACTCGAGATCAGAATTTGTATGGACTCTTGGGATCTTGAGAGAAAAAAAGAGAGCCTTCAGGCAACCTCCTAAGAGCCACAAAGGAAGCTGCAGCTGTGAGTCCTGGTTGGCTGAGACCAGCGTGCTGCCTTCTCTGGATCTGAGTCTTGCCTGCATCATGAAGCGGGGCCAGGAACTTGTGTTCACTTCACTCTTTTTCATGTCTAGTTCTTTTTCAGCCCATATCTTCCCCTTCATCTCCTGGGGTTTGGATTTGCTGGTTTGGGGGCTCTTTTTTTCCCTTCCTCACTCATGAAACATGGTAGAAAGATTA... |
Task1_train_13206 | Consider this mutation in STXBP1 (syntaxin binding protein 1) on Chromosome 9. Is this a benign change or a disease-causing variant? | Pathogenic; Developmental and epileptic encephalopathy, 4 | TCGAGATCAGAATTTGTATGGACTCTTGGGATCTTGAGAGAAAAAAAGAGAGCCTTCAGGCAACCTCCTAAGAGCCACAAAGGAAGCTGCAGCTGTGAGTCCTGGTTGGCTGAGACCAGCGTGCTGCCTTCTCTGGATCTGAGTCTTGCCTGCATCATGAAGCGGGGCCAGGAACTTGTGTTCACTTCACTCTTTTTCATGTCTAGTTCTTTTTCAGCCCATATCTTCCCCTTCATCTCCTGGGGTTTGGATTTGCTGGTTTGGGGGCTCTTTTTTTCCCTTCCTCACTCATGAAACATGGTAGAAAGATTAAAAACACG... | TCGAGATCAGAATTTGTATGGACTCTTGGGATCTTGAGAGAAAAAAAGAGAGCCTTCAGGCAACCTCCTAAGAGCCACAAAGGAAGCTGCAGCTGTGAGTCCTGGTTGGCTGAGACCAGCGTGCTGCCTTCTCTGGATCTGAGTCTTGCCTGCATCATGAAGCGGGGCCAGGAACTTGTGTTCACTTCACTCTTTTTCATGTCTAGTTCTTTTTCAGCCCATATCTTCCCCTTCATCTCCTGGGGTTTGGATTTGCTGGTTTGGGGGCTCTTTTTTTCCCTTCCTCACTCATGAAACATGGTAGAAAGATTAAAAACACG... |
Task1_train_13207 | Consider this mutation in STXBP1 (syntaxin binding protein 1) on Chromosome 9. Is this a benign change or a disease-causing variant? | Pathogenic; Intellectual disability | TCCTCACTCAGGCAGAGTGGCTGGAGGGGAATCGGGATCCTCGTGTTGTCCTCACCTATAGTGAATCTGATGAGGTGGGGGAGCAATGTCCACTAACCCTGAGGGGAGAAGGGCCACCATCCGGCCTGTCCCATTGGGTGCATGGGGGCTGTGTGTGGTGATCGGGTGTCTTGTGCCCTCAGGCATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACATGGCTCACCTCGGCGTGCCCATCGTCACCGATGTAAGAGGCCAGCTCAGCTTCCGGGGGA... | TCCTCACTCAGGCAGAGTGGCTGGAGGGGAATCGGGATCCTCGTGTTGTCCTCACCTATAGTGAATCTGATGAGGTGGGGGAGCAATGTCCACTAACCCTGAGGGGAGAAGGGCCACCATCCGGCCTGTCCCATTGGGTGCATGGGGGCTGTGTGTGGTGATCGGGTGTCTTGTGCCCTCAGGCATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACATGGCTCACCTCGGCGTGCCCATCGTCACCGATGTAAGAGGCCAGCTCAGCTTCCGGGGGA... |
Task1_train_13208 | Here is a variant affecting STXBP1 (syntaxin binding protein 1) on Chromosome 9. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Inborn genetic diseases | TCCTCACTCAGGCAGAGTGGCTGGAGGGGAATCGGGATCCTCGTGTTGTCCTCACCTATAGTGAATCTGATGAGGTGGGGGAGCAATGTCCACTAACCCTGAGGGGAGAAGGGCCACCATCCGGCCTGTCCCATTGGGTGCATGGGGGCTGTGTGTGGTGATCGGGTGTCTTGTGCCCTCAGGCATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACATGGCTCACCTCGGCGTGCCCATCGTCACCGATGTAAGAGGCCAGCTCAGCTTCCGGGGGA... | TCCTCACTCAGGCAGAGTGGCTGGAGGGGAATCGGGATCCTCGTGTTGTCCTCACCTATAGTGAATCTGATGAGGTGGGGGAGCAATGTCCACTAACCCTGAGGGGAGAAGGGCCACCATCCGGCCTGTCCCATTGGGTGCATGGGGGCTGTGTGTGGTGATCGGGTGTCTTGTGCCCTCAGGCATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACATGGCTCACCTCGGCGTGCCCATCGTCACCGATGTAAGAGGCCAGCTCAGCTTCCGGGGGA... |
Task1_train_13209 | This variant affects the gene STXBP1 (syntaxin binding protein 1) found on Chromosome 9. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 4 | TCCTCACTCAGGCAGAGTGGCTGGAGGGGAATCGGGATCCTCGTGTTGTCCTCACCTATAGTGAATCTGATGAGGTGGGGGAGCAATGTCCACTAACCCTGAGGGGAGAAGGGCCACCATCCGGCCTGTCCCATTGGGTGCATGGGGGCTGTGTGTGGTGATCGGGTGTCTTGTGCCCTCAGGCATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACATGGCTCACCTCGGCGTGCCCATCGTCACCGATGTAAGAGGCCAGCTCAGCTTCCGGGGGA... | TCCTCACTCAGGCAGAGTGGCTGGAGGGGAATCGGGATCCTCGTGTTGTCCTCACCTATAGTGAATCTGATGAGGTGGGGGAGCAATGTCCACTAACCCTGAGGGGAGAAGGGCCACCATCCGGCCTGTCCCATTGGGTGCATGGGGGCTGTGTGTGGTGATCGGGTGTCTTGTGCCCTCAGGCATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACATGGCTCACCTCGGCGTGCCCATCGTCACCGATGTAAGAGGCCAGCTCAGCTTCCGGGGGA... |
Task1_train_13210 | Given a variant located on Chromosome 9 and affecting STXBP1 (syntaxin binding protein 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TCCTCACTCAGGCAGAGTGGCTGGAGGGGAATCGGGATCCTCGTGTTGTCCTCACCTATAGTGAATCTGATGAGGTGGGGGAGCAATGTCCACTAACCCTGAGGGGAGAAGGGCCACCATCCGGCCTGTCCCATTGGGTGCATGGGGGCTGTGTGTGGTGATCGGGTGTCTTGTGCCCTCAGGCATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACATGGCTCACCTCGGCGTGCCCATCGTCACCGATGTAAGAGGCCAGCTCAGCTTCCGGGGGA... | TCCTCACTCAGGCAGAGTGGCTGGAGGGGAATCGGGATCCTCGTGTTGTCCTCACCTATAGTGAATCTGATGAGGTGGGGGAGCAATGTCCACTAACCCTGAGGGGAGAAGGGCCACCATCCGGCCTGTCCCATTGGGTGCATGGGGGCTGTGTGTGGTGATCGGGTGTCTTGTGCCCTCAGGCATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACATGGCTCACCTCGGCGTGCCCATCGTCACCGATGTAAGAGGCCAGCTCAGCTTCCGGGGGA... |
Task1_train_13211 | Given a variant located on Chromosome 9 and affecting STXBP1 (syntaxin binding protein 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | ATCCCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCT... | ATCCCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCT... |
Task1_train_13212 | A variant was discovered in gene STXBP1 (syntaxin binding protein 1), Chromosome 9. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Developmental and epileptic encephalopathy, 4 | CCCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTAC... | CCCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTAC... |
Task1_train_13213 | Here is a genetic alteration in STXBP1 (syntaxin binding protein 1) on Chromosome 9. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACT... | CCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACT... |
Task1_train_13214 | Here is a genetic alteration in STXBP1 (syntaxin binding protein 1) on Chromosome 9. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Developmental and epileptic encephalopathy, 4 | CCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACT... | CCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACT... |
Task1_train_13215 | This variant impacts the gene STXBP1 (syntaxin binding protein 1) on Chromosome 9. Is the change likely to result in a pathogenic outcome? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACT... | CCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACT... |
Task1_train_13216 | Located on Chromosome 9, this mutation impacts STXBP1 (syntaxin binding protein 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Developmental and epileptic encephalopathy, 4 | CCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACT... | CCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACT... |
Task1_train_13217 | Consider a variant on Chromosome 9 in gene STXBP1 (syntaxin binding protein 1). Determine its clinical classification and disease relevance. | Pathogenic; See cases | TCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGA... | TCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGA... |
Task1_train_13218 | This genomic variant is located on Chromosome 9, within the STXBP1 (syntaxin binding protein 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Developmental and epileptic encephalopathy, 4 | TCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGA... | TCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGA... |
Task1_train_13219 | This mutation is located in gene STXBP1 (syntaxin binding protein 1) on Chromosome 9. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Developmental disorder | TCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGA... | TCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGA... |
Task1_train_13220 | The gene STXBP1 (syntaxin binding protein 1) on Chromosome 9 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGA... | TCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGA... |
Task1_train_13221 | This is a variant in STXBP1 (syntaxin binding protein 1), located on Chromosome 9. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | CACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAA... | CACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAA... |
Task1_train_13222 | This variant affects gene STXBP1 (syntaxin binding protein 1) located on Chromosome 9. Evaluate its biological effect and specify any disease association. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCTAAGATCGCATCACT... | TTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCTAAGATCGCATCACT... |
Task1_train_13223 | Consider this mutation in ENG (endoglin) on Chromosome 9. Is this a benign change or a disease-causing variant? | Pathogenic; Pulmonary hypertension, primary, 1 | TCTTTTTTAAGGCTCTGTGCCTTGGTCTCTCCTTCCTCTTGGCTGAGATAGCAGAGGGGCTCCCCGGGTCTCTCACTGTTGCAGTGGCCTGGCCGTTCAGCCTGTCTCCCCCAACACCCCGCCTGCCTCCTGGCTCAGGCCCAGCTTATTGTGTGCGCTGCCTGGCCAGGCCCTGGGTCTTGCCATGTGCTGGGTGGTAGATTTCCTCCTCCCAGTGCCTTCTGGGAAGGGAGAGGGCCTCTGCCTGGGACACTGCGGGACAGAGGGTGGCTGGAGTGAATTAAAGCCTTTGTTTTTTAAAGAAATGGCAAAGCCTTCGA... | TCTTTTTTAAGGCTCTGTGCCTTGGTCTCTCCTTCCTCTTGGCTGAGATAGCAGAGGGGCTCCCCGGGTCTCTCACTGTTGCAGTGGCCTGGCCGTTCAGCCTGTCTCCCCCAACACCCCGCCTGCCTCCTGGCTCAGGCCCAGCTTATTGTGTGCGCTGCCTGGCCAGGCCCTGGGTCTTGCCATGTGCTGGGTGGTAGATTTCCTCCTCCCAGTGCCTTCTGGGAAGGGAGAGGGCCTCTGCCTGGGACACTGCGGGACAGAGGGTGGCTGGAGTGAATTAAAGCCTTTGTTTTTTAAAGAAATGGCAAAGCCTTCGA... |
Task1_train_13224 | This gene mutation involves ENG, LOC102723566 (endoglin| uncharacterized LOC102723566) on Chromosome 9. Is it associated with any clinical condition, or is it benign? | Pathogenic; Hereditary hemorrhagic telangiectasia | GTTGTGCTGGCCCATGTGGGCTTTGGTGCCAGCTCTGCTCAGCCATGGACCCTCGACTTCTCTGAACCTCAGTCTCCTCTTGCAGCAAACGGGCTCATCACAGCCAGGCCTGGCATTGAGCCATGGTTGCTAGGACTGTCCACCTAGAGGGCCCAGCCAGGCCTTTTGGGTCATGCCTCTGCCCCTCAAGGCTGATGGAGATGGCGTTTTCAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCTGAGGCCTTTAGC... | GTTGTGCTGGCCCATGTGGGCTTTGGTGCCAGCTCTGCTCAGCCATGGACCCTCGACTTCTCTGAACCTCAGTCTCCTCTTGCAGCAAACGGGCTCATCACAGCCAGGCCTGGCATTGAGCCATGGTTGCTAGGACTGTCCACCTAGAGGGCCCAGCCAGGCCTTTTGGGTCATGCCTCTGCCCCTCAAGGCTGATGGAGATGGCGTTTTCAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCTGAGGCCTTTAGC... |
Task1_train_13225 | A mutation on Chromosome 9 affecting ENG, LOC102723566 (endoglin| uncharacterized LOC102723566) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 1 | ATGGACAGTGGCAGCTGCATAGTCTGCCAGTGCCCCAGACACAGCAGTCCCACCAGAAAGCTCTCGGGTGGCAGAAAGTGCTGCTGGCAGCCAGACTGCCAGGCCACATGCCTGATTAAGGCTCCGCCCCTCACCAGCTGGCCCCACATCCCTGTGGGCTGCCATGTCCCTTCCTGCAAACCACAGACCTGGAAGCTCCCACTTGAAGCTGGGGCCGGCCCAGGCCCCACTCACCTGGTCTTGAGACCCGGTCTTGGGACGCAGGGCTACCGTGCAGCTGAGGGTGCCGGTTTTGGGTATGGGTACTGTGTAGAAGTGGA... | ATGGACAGTGGCAGCTGCATAGTCTGCCAGTGCCCCAGACACAGCAGTCCCACCAGAAAGCTCTCGGGTGGCAGAAAGTGCTGCTGGCAGCCAGACTGCCAGGCCACATGCCTGATTAAGGCTCCGCCCCTCACCAGCTGGCCCCACATCCCTGTGGGCTGCCATGTCCCTTCCTGCAAACCACAGACCTGGAAGCTCCCACTTGAAGCTGGGGCCGGCCCAGGCCCCACTCACCTGGTCTTGAGACCCGGTCTTGGGACGCAGGGCTACCGTGCAGCTGAGGGTGCCGGTTTTGGGTATGGGTACTGTGTAGAAGTGGA... |
Task1_train_13226 | This gene mutation involves ENG (endoglin) on Chromosome 9. Is it associated with any clinical condition, or is it benign? | Pathogenic; Hereditary hemorrhagic telangiectasia | CAGAGAATTACAACTAAAACAAGAATGGAACGCCATGTGCCTCTTCCCACACTGGCAAAGGTTTCTCTTTTTTTGAATTATAGTCTGGAGACAGCGAAGAGGTTGAGGTGTTCTCGTAAATCAGTGGTGAAAATTCAAATCATCTTTGGGAAAGTGGGTTGGCAACATGTATTGAAACTTCATTCATTTTGACCCAGTAATTCCACTAATGTGGAAATCTATCCTGAGAAAATAATCCTATATAAAGAAATGTTTCATGCACAATGACATTTTTTGCATATTTATAATACTACAGAATTGGGAACAACCTAAATGTGTAA... | CAGAGAATTACAACTAAAACAAGAATGGAACGCCATGTGCCTCTTCCCACACTGGCAAAGGTTTCTCTTTTTTTGAATTATAGTCTGGAGACAGCGAAGAGGTTGAGGTGTTCTCGTAAATCAGTGGTGAAAATTCAAATCATCTTTGGGAAAGTGGGTTGGCAACATGTATTGAAACTTCATTCATTTTGACCCAGTAATTCCACTAATGTGGAAATCTATCCTGAGAAAATAATCCTATATAAAGAAATGTTTCATGCACAATGACATTTTTTGCATATTTATAATACTACAGAATTGGGAACAACCTAAATGTGTAA... |
Task1_train_13227 | A mutation found in ENG (endoglin) on Chromosome 9 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Cardiovascular phenotype | CACACTGGCAAAGGTTTCTCTTTTTTTGAATTATAGTCTGGAGACAGCGAAGAGGTTGAGGTGTTCTCGTAAATCAGTGGTGAAAATTCAAATCATCTTTGGGAAAGTGGGTTGGCAACATGTATTGAAACTTCATTCATTTTGACCCAGTAATTCCACTAATGTGGAAATCTATCCTGAGAAAATAATCCTATATAAAGAAATGTTTCATGCACAATGACATTTTTTGCATATTTATAATACTACAGAATTGGGAACAACCTAAATGTGTAACAAGGGAAGAGGAGTTAATTATAGCATGTCAATATGATGGAATAATA... | CACACTGGCAAAGGTTTCTCTTTTTTTGAATTATAGTCTGGAGACAGCGAAGAGGTTGAGGTGTTCTCGTAAATCAGTGGTGAAAATTCAAATCATCTTTGGGAAAGTGGGTTGGCAACATGTATTGAAACTTCATTCATTTTGACCCAGTAATTCCACTAATGTGGAAATCTATCCTGAGAAAATAATCCTATATAAAGAAATGTTTCATGCACAATGACATTTTTTGCATATTTATAATACTACAGAATTGGGAACAACCTAAATGTGTAACAAGGGAAGAGGAGTTAATTATAGCATGTCAATATGATGGAATAATA... |
Task1_train_13228 | This alteration in ENG (endoglin) on Chromosome 9 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hereditary hemorrhagic telangiectasia | TTCTAATTTTCACATATTTTTTAAAGCATGTTTTTTGTTTGTTTGTTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAATCTCCCTCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCACGTCCGGCTAATTTTTTCTATTTTAGTAGAGACAGGGTTTCACCGTGTTGCCCAGGCTGGTCTCAAACTCTTGAGCTCCGGCAATCTGCCTGCCTCGGCCTCCAAAGTGCTAGGGTTACAGGTGTGAGCCACTG... | TTCTAATTTTCACATATTTTTTAAAGCATGTTTTTTGTTTGTTTGTTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAATCTCCCTCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCACGTCCGGCTAATTTTTTCTATTTTAGTAGAGACAGGGTTTCACCGTGTTGCCCAGGCTGGTCTCAAACTCTTGAGCTCCGGCAATCTGCCTGCCTCGGCCTCCAAAGTGCTAGGGTTACAGGTGTGAGCCACTG... |
Task1_train_13229 | Gene ENG (endoglin) on Chromosome 9 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hereditary hemorrhagic telangiectasia | TGGAGTGCAGTGGCATGATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTACCACCATGCCTGGCTAATATTTTGTATTCACCATGTGTTATTTTTATAACAAATATATTTGTTTGTCAACCAGGCAGTGATCATATTGTATAGGCTTTTTTTTTTTTCTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCC... | TGGAGTGCAGTGGCATGATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTACCACCATGCCTGGCTAATATTTTGTATTCACCATGTGTTATTTTTATAACAAATATATTTGTTTGTCAACCAGGCAGTGATCATATTGTATAGGCTTTTTTTTTTTTCTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCC... |
Task1_train_13230 | This gene mutation involves ENG (endoglin) on Chromosome 9. Is it associated with any clinical condition, or is it benign? | Pathogenic; Hereditary hemorrhagic telangiectasia | CAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTACCACCATGCCTGGCTAATATTTTGTATTCACCATGTGTTATTTTTATAACAAATATATTTGTTTGTCAACCAGGCAGTGATCATATTGTATAGGCTTTTTTTTTTTTCTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGACTACAGGCGCCTGCCACCACACCCGGTTAATTTTTTGT... | CAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTACCACCATGCCTGGCTAATATTTTGTATTCACCATGTGTTATTTTTATAACAAATATATTTGTTTGTCAACCAGGCAGTGATCATATTGTATAGGCTTTTTTTTTTTTCTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGACTACAGGCGCCTGCCACCACACCCGGTTAATTTTTTGT... |
Task1_train_13231 | Consider a variant on Chromosome 9 in gene ENG (endoglin). Determine its clinical classification and disease relevance. | Pathogenic; Hereditary hemorrhagic telangiectasia | TTTTTTTTTTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTTTAGTGGTGTGATCTCGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCGATTCTTGTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGTCCCATCACCTCTGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAACCACCATGCCTGGCCTGTGTAGGTATTC... | TTTTTTTTTTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTTTAGTGGTGTGATCTCGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCGATTCTTGTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGTCCCATCACCTCTGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAACCACCATGCCTGGCCTGTGTAGGTATTC... |
Task1_train_13232 | The gene ENG (endoglin) is located on Chromosome 9, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Cardiovascular phenotype | GGCAGGCCAGGCGGCTGGTCACTGTGTGATCACTGTGTGCCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTTACCCGGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGG... | GGCAGGCCAGGCGGCTGGTCACTGTGTGATCACTGTGTGCCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTTACCCGGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGG... |
Task1_train_13233 | This alteration in ENG (endoglin) on Chromosome 9 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hereditary hemorrhagic telangiectasia | GGCAGGCCAGGCGGCTGGTCACTGTGTGATCACTGTGTGCCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTTACCCGGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGG... | GGCAGGCCAGGCGGCTGGTCACTGTGTGATCACTGTGTGCCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTTACCCGGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGG... |
Task1_train_13234 | This variant affects the gene ENG (endoglin) found on Chromosome 9. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hereditary hemorrhagic telangiectasia | GGCAGGCCAGGCGGCTGGTCACTGTGTGATCACTGTGTGCCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTTACCCGGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGG... | GGCAGGCCAGGCGGCTGGTCACTGTGTGATCACTGTGTGCCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTTACCCGGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGG... |
Task1_train_13235 | With a mutation on Chromosome 9 in gene ENG (endoglin), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Cardiovascular phenotype | GGCAGGCCAGGCGGCTGGTCACTGTGTGATCACTGTGTGCCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTTACCCGGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGG... | GGCAGGCCAGGCGGCTGGTCACTGTGTGATCACTGTGTGCCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTTACCCGGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGG... |
Task1_train_13236 | Given this variant in gene ENG (endoglin) on Chromosome 9, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hereditary hemorrhagic telangiectasia | TCACTGTGTGCCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTTACCCGGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAG... | TCACTGTGTGCCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTTACCCGGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAG... |
Task1_train_13237 | This sequence variant lies in ENG (endoglin) on Chromosome 9. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 1 | AGACGGAGTTTTGCTCTGTTACCCGGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGC... | AGACGGAGTTTTGCTCTGTTACCCGGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGC... |
Task1_train_13238 | This is a variant in ENG (endoglin), located on Chromosome 9. Is this mutation a likely cause of disease or not? | Pathogenic; Hereditary hemorrhagic telangiectasia | ACTATGTTGCCCAGGCTGGTCTCCAACTCCTGGCCTCAAGAGACCCTCCTGGCCAGGCACAGTGGCTCACGCCTGTAAACCAGCACTTTGGGAGGCCGAGGCGGGTGGATCCCCTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACACGGTATGAAACACTGTCTCTACTAAAAATACAAAAAATGAGGTGGGGGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGAAGGCGAAGGTTGCAGTGAGGCGAGATGGGGCCATTGCACTCCAGCCTGGGCAACAAGA... | ACTATGTTGCCCAGGCTGGTCTCCAACTCCTGGCCTCAAGAGACCCTCCTGGCCAGGCACAGTGGCTCACGCCTGTAAACCAGCACTTTGGGAGGCCGAGGCGGGTGGATCCCCTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACACGGTATGAAACACTGTCTCTACTAAAAATACAAAAAATGAGGTGGGGGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGAAGGCGAAGGTTGCAGTGAGGCGAGATGGGGCCATTGCACTCCAGCCTGGGCAACAAGA... |
Task1_train_13239 | This gene mutation involves ENG (endoglin) on Chromosome 9. Is it associated with any clinical condition, or is it benign? | Pathogenic; Hereditary hemorrhagic telangiectasia | AACTCCTGGCCTCAAGAGACCCTCCTGGCCAGGCACAGTGGCTCACGCCTGTAAACCAGCACTTTGGGAGGCCGAGGCGGGTGGATCCCCTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACACGGTATGAAACACTGTCTCTACTAAAAATACAAAAAATGAGGTGGGGGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGAAGGCGAAGGTTGCAGTGAGGCGAGATGGGGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAA... | AACTCCTGGCCTCAAGAGACCCTCCTGGCCAGGCACAGTGGCTCACGCCTGTAAACCAGCACTTTGGGAGGCCGAGGCGGGTGGATCCCCTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACACGGTATGAAACACTGTCTCTACTAAAAATACAAAAAATGAGGTGGGGGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGAAGGCGAAGGTTGCAGTGAGGCGAGATGGGGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAA... |
Task1_train_13240 | Located on Chromosome 9, this mutation impacts ENG (endoglin). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hereditary hemorrhagic telangiectasia | AGCTCCTGGACATCCATGATGTTTCTTCCTCCAGGCCCAAGTCTCCTTAGCTTCCAAGATCAGATGAGGTCGGATGTGTTCAGGATGGTGTGGCCGTAACAAGCCATGCCTAATCCCGTAGCAGCTGGAGTGCCCTGGCCCTGTGCCCCGTGAGAATGCACCAGTCCCCTGGATCCTGGCTGGCTATCTACACACCTATCTCCCATAGACCTAGACACCTGCCTAGGGGCCCTCCTCTCACCCTGGCCCAGTATTGAGCAATTAGGGTTGGGGGATCCCAGTCACCCAGAGGAGGCACAGGGACCTGAACATTAAAACAA... | AGCTCCTGGACATCCATGATGTTTCTTCCTCCAGGCCCAAGTCTCCTTAGCTTCCAAGATCAGATGAGGTCGGATGTGTTCAGGATGGTGTGGCCGTAACAAGCCATGCCTAATCCCGTAGCAGCTGGAGTGCCCTGGCCCTGTGCCCCGTGAGAATGCACCAGTCCCCTGGATCCTGGCTGGCTATCTACACACCTATCTCCCATAGACCTAGACACCTGCCTAGGGGCCCTCCTCTCACCCTGGCCCAGTATTGAGCAATTAGGGTTGGGGGATCCCAGTCACCCAGAGGAGGCACAGGGACCTGAACATTAAAACAA... |
Task1_train_13241 | A mutation found in ENG (endoglin) on Chromosome 9 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 1 | AGCTCCTGGACATCCATGATGTTTCTTCCTCCAGGCCCAAGTCTCCTTAGCTTCCAAGATCAGATGAGGTCGGATGTGTTCAGGATGGTGTGGCCGTAACAAGCCATGCCTAATCCCGTAGCAGCTGGAGTGCCCTGGCCCTGTGCCCCGTGAGAATGCACCAGTCCCCTGGATCCTGGCTGGCTATCTACACACCTATCTCCCATAGACCTAGACACCTGCCTAGGGGCCCTCCTCTCACCCTGGCCCAGTATTGAGCAATTAGGGTTGGGGGATCCCAGTCACCCAGAGGAGGCACAGGGACCTGAACATTAAAACAA... | AGCTCCTGGACATCCATGATGTTTCTTCCTCCAGGCCCAAGTCTCCTTAGCTTCCAAGATCAGATGAGGTCGGATGTGTTCAGGATGGTGTGGCCGTAACAAGCCATGCCTAATCCCGTAGCAGCTGGAGTGCCCTGGCCCTGTGCCCCGTGAGAATGCACCAGTCCCCTGGATCCTGGCTGGCTATCTACACACCTATCTCCCATAGACCTAGACACCTGCCTAGGGGCCCTCCTCTCACCCTGGCCCAGTATTGAGCAATTAGGGTTGGGGGATCCCAGTCACCCAGAGGAGGCACAGGGACCTGAACATTAAAACAA... |
Task1_train_13242 | Gene ENG (endoglin) on Chromosome 9 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Cardiovascular phenotype | AGCTCCTGGACATCCATGATGTTTCTTCCTCCAGGCCCAAGTCTCCTTAGCTTCCAAGATCAGATGAGGTCGGATGTGTTCAGGATGGTGTGGCCGTAACAAGCCATGCCTAATCCCGTAGCAGCTGGAGTGCCCTGGCCCTGTGCCCCGTGAGAATGCACCAGTCCCCTGGATCCTGGCTGGCTATCTACACACCTATCTCCCATAGACCTAGACACCTGCCTAGGGGCCCTCCTCTCACCCTGGCCCAGTATTGAGCAATTAGGGTTGGGGGATCCCAGTCACCCAGAGGAGGCACAGGGACCTGAACATTAAAACAA... | AGCTCCTGGACATCCATGATGTTTCTTCCTCCAGGCCCAAGTCTCCTTAGCTTCCAAGATCAGATGAGGTCGGATGTGTTCAGGATGGTGTGGCCGTAACAAGCCATGCCTAATCCCGTAGCAGCTGGAGTGCCCTGGCCCTGTGCCCCGTGAGAATGCACCAGTCCCCTGGATCCTGGCTGGCTATCTACACACCTATCTCCCATAGACCTAGACACCTGCCTAGGGGCCCTCCTCTCACCCTGGCCCAGTATTGAGCAATTAGGGTTGGGGGATCCCAGTCACCCAGAGGAGGCACAGGGACCTGAACATTAAAACAA... |
Task1_train_13243 | Here is a variant affecting ENG (endoglin) on Chromosome 9. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Cardiovascular phenotype | CATGCAAGGTACAGTTTTAGGAGATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCAT... | CATGCAAGGTACAGTTTTAGGAGATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCAT... |
Task1_train_13244 | Here is a genetic alteration in ENG (endoglin) on Chromosome 9. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Hereditary hemorrhagic telangiectasia | CATGCAAGGTACAGTTTTAGGAGATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCAT... | CATGCAAGGTACAGTTTTAGGAGATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCAT... |
Task1_train_13245 | Consider this mutation in ENG (endoglin) on Chromosome 9. Is this a benign change or a disease-causing variant? | Pathogenic; Cardiovascular phenotype | GAGATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCATGAATGTCCAAACTCATTTCT... | GAGATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCATGAATGTCCAAACTCATTTCT... |
Task1_train_13246 | A genomic change on Chromosome 9 affects ENG (endoglin). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 1 | AGATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCATGAATGTCCAAACTCATTTCTT... | AGATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCATGAATGTCCAAACTCATTTCTT... |
Task1_train_13247 | A change on Chromosome 9 affects gene ENG (endoglin). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Cardiovascular phenotype | AGATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCATGAATGTCCAAACTCATTTCTT... | AGATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCATGAATGTCCAAACTCATTTCTT... |
Task1_train_13248 | This mutation is located in gene ENG (endoglin) on Chromosome 9. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 1 | AGATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCATGAATGTCCAAACTCATTTCTT... | AGATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCATGAATGTCCAAACTCATTTCTT... |
Task1_train_13249 | This gene mutation involves ENG (endoglin) on Chromosome 9. Is it associated with any clinical condition, or is it benign? | Pathogenic; Telangiectasia, hereditary hemorrhagic, type 1 | GATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCATGAATGTCCAAACTCATTTCTTT... | GATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCATGAATGTCCAAACTCATTTCTTT... |
Task1_train_13250 | This variant lies on Chromosome 9 and affects the gene ENG (endoglin). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Cardiovascular phenotype | GATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCATGAATGTCCAAACTCATTTCTTT... | GATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCATGAATGTCCAAACTCATTTCTTT... |
Task1_train_13251 | A change on Chromosome 9 affects gene ENG (endoglin). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Hereditary hemorrhagic telangiectasia | GATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCATGAATGTCCAAACTCATTTCTTT... | GATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCATGAATGTCCAAACTCATTTCTTT... |
Task1_train_13252 | A mutation on Chromosome 9 affecting ENG (endoglin) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not specified | GATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCATGAATGTCCAAACTCATTTCTTT... | GATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCATGAATGTCCAAACTCATTTCTTT... |
Task1_train_13253 | Here is a variant affecting ENG (endoglin) on Chromosome 9. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hereditary hemorrhagic telangiectasia | GATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCATGAATGTCCAAACTCATTTCTTT... | GATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACTGGCTGTTACATAGCTATTACTATATATTTTTAAAAGGTCATGAATGTCCAAACTCATTTCTTT... |
Task1_train_13254 | A genomic change on Chromosome 9 affects AK1, ST6GALNAC4-ST6GALNAC6-AK1 (adenylate kinase 1| ST6GALNAC4-ST6GALNAC6-AK1 readthrough). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hemolytic anemia due to adenylate kinase deficiency | GTCCCTGCGTGCCCCATCAGTTTTCTGCCGATGCGGAAAACCGAGGACCAGCTGCAGAGGCCTCCACACAGCCCCTACCCTCCACAACTTCCCTGGGACAGAATGGCTCCCCCTACATGCCTTGTCTTCTGCTAGCTCCGCTGAACTCCTGTTTATTTCTTTCATGTTCTTCTTTCAATAGATTCACCTTTTATAACTTAAAATCGTTTATTTTAAAGGAAACTTTAAATAACCAATGGAAATGAAAAACCAGCCCCACTTGCCATGAACAGCCCCAACTGTTCGGATTTCATTCGGGCAGGCGGGGTCCACAAGAGGCT... | GTCCCTGCGTGCCCCATCAGTTTTCTGCCGATGCGGAAAACCGAGGACCAGCTGCAGAGGCCTCCACACAGCCCCTACCCTCCACAACTTCCCTGGGACAGAATGGCTCCCCCTACATGCCTTGTCTTCTGCTAGCTCCGCTGAACTCCTGTTTATTTCTTTCATGTTCTTCTTTCAATAGATTCACCTTTTATAACTTAAAATCGTTTATTTTAAAGGAAACTTTAAATAACCAATGGAAATGAAAAACCAGCCCCACTTGCCATGAACAGCCCCAACTGTTCGGATTTCATTCGGGCAGGCGGGGTCCACAAGAGGCT... |
Task1_train_13255 | A variant affecting Chromosome 9, within the gene ST6GALNAC4-ST6GALNAC6-AK1, AK1 (ST6GALNAC4-ST6GALNAC6-AK1 readthrough| adenylate kinase 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hemolytic anemia due to adenylate kinase deficiency | CCCCTACATGCCTTGTCTTCTGCTAGCTCCGCTGAACTCCTGTTTATTTCTTTCATGTTCTTCTTTCAATAGATTCACCTTTTATAACTTAAAATCGTTTATTTTAAAGGAAACTTTAAATAACCAATGGAAATGAAAAACCAGCCCCACTTGCCATGAACAGCCCCAACTGTTCGGATTTCATTCGGGCAGGCGGGGTCCACAAGAGGCTCTCTTGGCTTAAAGGGAGCCCAGCTTGGGCCAGATCAGGTGTTAAGGACACGTGAGCACCAAATTGAGCCTTTCTCAGTGATGAGGTCAAAAAATGAAAGCGCGCAGGA... | CCCCTACATGCCTTGTCTTCTGCTAGCTCCGCTGAACTCCTGTTTATTTCTTTCATGTTCTTCTTTCAATAGATTCACCTTTTATAACTTAAAATCGTTTATTTTAAAGGAAACTTTAAATAACCAATGGAAATGAAAAACCAGCCCCACTTGCCATGAACAGCCCCAACTGTTCGGATTTCATTCGGGCAGGCGGGGTCCACAAGAGGCTCTCTTGGCTTAAAGGGAGCCCAGCTTGGGCCAGATCAGGTGTTAAGGACACGTGAGCACCAAATTGAGCCTTTCTCAGTGATGAGGTCAAAAAATGAAAGCGCGCAGGA... |
Task1_train_13256 | This is a variant in AK1, ST6GALNAC4-ST6GALNAC6-AK1 (adenylate kinase 1| ST6GALNAC4-ST6GALNAC6-AK1 readthrough), located on Chromosome 9. Is this mutation a likely cause of disease or not? | Pathogenic; Adenylate kinase deficiency | TCCTCCAGGGCACAGACTCACAGTCTCTGGTTCATCTGGGTCTCCAGGACCAAGCACAGTAGGCTCTTTACACACACCCAGCAGAGGTGGTAAATCTGGGAGAGCCAGCTCAGCCTCTGGGCTTGAGATTCTGGCTGTGGGGCCTCAGTCTCCCTGTCAGGACAATGGACATCTAGCCCGGGGAGTCCACAACGGGCACTGCCAGTCTCCAGAAAAGCTTTGGGTGTGAGCCGGCCACACTTCCAGGCTGACCCTCCCTCCTTCGGTGAAGCCCTGGCGCCCCCTGGTGTCCAGAGCCAAGAAGACCAGCTGCCCGGACA... | TCCTCCAGGGCACAGACTCACAGTCTCTGGTTCATCTGGGTCTCCAGGACCAAGCACAGTAGGCTCTTTACACACACCCAGCAGAGGTGGTAAATCTGGGAGAGCCAGCTCAGCCTCTGGGCTTGAGATTCTGGCTGTGGGGCCTCAGTCTCCCTGTCAGGACAATGGACATCTAGCCCGGGGAGTCCACAACGGGCACTGCCAGTCTCCAGAAAAGCTTTGGGTGTGAGCCGGCCACACTTCCAGGCTGACCCTCCCTCCTTCGGTGAAGCCCTGGCGCCCCCTGGTGTCCAGAGCCAAGAAGACCAGCTGCCCGGACA... |
Task1_train_13257 | Here is a genetic alteration in AK1, ST6GALNAC4-ST6GALNAC6-AK1 (adenylate kinase 1| ST6GALNAC4-ST6GALNAC6-AK1 readthrough) on Chromosome 9. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Hemolytic anemia due to adenylate kinase deficiency | AGATAGGGAAGGTGAGGGGCAGAGTGGGGTAGACACTTTCCTGAGGTCTTGCAGCCACTCATGCAGCCACTCAGAGGTCAGAAAATATGGCCTCCTATCCCCAGATGAGGCTGGAAGCTACGGAAGCCCAGAAGGCCCTACGGAGACGGGGCATGGGAATGGGGCATGGGAATGGGGCATGGGGATGGGAGTCTTATCCTGCCCCAGCCCACCAGGATGCTGGTTAGGCTCCCCCTAGCCCTTGCCGACCTCTCCCTCCTAGGCCCTTGCAGTCCCGTTTATTTCTCCCATACAGCCTTGTGACACCGAGGTAAAAGTGT... | AGATAGGGAAGGTGAGGGGCAGAGTGGGGTAGACACTTTCCTGAGGTCTTGCAGCCACTCATGCAGCCACTCAGAGGTCAGAAAATATGGCCTCCTATCCCCAGATGAGGCTGGAAGCTACGGAAGCCCAGAAGGCCCTACGGAGACGGGGCATGGGAATGGGGCATGGGAATGGGGCATGGGGATGGGAGTCTTATCCTGCCCCAGCCCACCAGGATGCTGGTTAGGCTCCCCCTAGCCCTTGCCGACCTCTCCCTCCTAGGCCCTTGCAGTCCCGTTTATTTCTCCCATACAGCCTTGTGACACCGAGGTAAAAGTGT... |
Task1_train_13258 | This variant lies on Chromosome 9 and affects the gene AK1, ST6GALNAC4-ST6GALNAC6-AK1 (adenylate kinase 1| ST6GALNAC4-ST6GALNAC6-AK1 readthrough). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hemolytic anemia due to adenylate kinase deficiency | AGAGGTCAGAAAATATGGCCTCCTATCCCCAGATGAGGCTGGAAGCTACGGAAGCCCAGAAGGCCCTACGGAGACGGGGCATGGGAATGGGGCATGGGAATGGGGCATGGGGATGGGAGTCTTATCCTGCCCCAGCCCACCAGGATGCTGGTTAGGCTCCCCCTAGCCCTTGCCGACCTCTCCCTCCTAGGCCCTTGCAGTCCCGTTTATTTCTCCCATACAGCCTTGTGACACCGAGGTAAAAGTGTATGTGTGTGCACAGGGCCATGTGTGCGAGCACGTGTGCATTCCTGCATATGTGTGCTGCGTCCGTGACATGC... | AGAGGTCAGAAAATATGGCCTCCTATCCCCAGATGAGGCTGGAAGCTACGGAAGCCCAGAAGGCCCTACGGAGACGGGGCATGGGAATGGGGCATGGGAATGGGGCATGGGGATGGGAGTCTTATCCTGCCCCAGCCCACCAGGATGCTGGTTAGGCTCCCCCTAGCCCTTGCCGACCTCTCCCTCCTAGGCCCTTGCAGTCCCGTTTATTTCTCCCATACAGCCTTGTGACACCGAGGTAAAAGTGTATGTGTGTGCACAGGGCCATGTGTGCGAGCACGTGTGCATTCCTGCATATGTGTGCTGCGTCCGTGACATGC... |
Task1_train_13259 | This mutation is located in gene DPM2 (dolichyl-phosphate mannosyltransferase subunit 2, regulatory) on Chromosome 9. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Congenital muscular dystrophy with intellectual disability and severe epilepsy | TGGGCAGTTCTGCCTGGACTGGAGGACAGAGCATGGAGCAGGTGGGGAGAGGGCAGGTGTCTGCAGTTGGCCTTTTTCCTCTGTGATGAGGAAGATACCTCCACCAACTGGAAGAAAAGTGAGGGAACCGGGTTTGAGGAATGGGGGTTTACACTAGGTGCCGTGGAAAATGGGAGAGCCAGCTGCCCAGGCACGGTGGGACTGCTGGAAGGCTAGGGGCTGGGCCAGTCCAGCCAACCTGAACACAGAGCAGCCTTCACTGCTCAGGGCCACGTTAAGTTGGGCTGTGGGGTTTTTAGGGGAGTGGCCCAAGGGTCCCT... | TGGGCAGTTCTGCCTGGACTGGAGGACAGAGCATGGAGCAGGTGGGGAGAGGGCAGGTGTCTGCAGTTGGCCTTTTTCCTCTGTGATGAGGAAGATACCTCCACCAACTGGAAGAAAAGTGAGGGAACCGGGTTTGAGGAATGGGGGTTTACACTAGGTGCCGTGGAAAATGGGAGAGCCAGCTGCCCAGGCACGGTGGGACTGCTGGAAGGCTAGGGGCTGGGCCAGTCCAGCCAACCTGAACACAGAGCAGCCTTCACTGCTCAGGGCCACGTTAAGTTGGGCTGTGGGGTTTTTAGGGGAGTGGCCCAAGGGTCCCT... |
Task1_train_13260 | This gene mutation involves DPM2 (dolichyl-phosphate mannosyltransferase subunit 2, regulatory) on Chromosome 9. Is it associated with any clinical condition, or is it benign? | Pathogenic; Congenital muscular dystrophy with intellectual disability and severe epilepsy | ACGGCAGAACCCAGGGGAAAAGGTGGCAGGGAGTCTGAGAGTGAGGTTGGGAGGACCAGCATCTTTTAGGCCCTGAGCAAGAAGGAGGTGACCGGAGTCTTCCAGGTATCCCTCCCTCCTAGCTTCTGGAAGTGGGAGTCGGGGAGGGGGCTCCAGTCAGTCAGGTGTAAGCTCCATGCCATGGGGACTCTGCAGGACAGGCAGGCTTGAGGAGCCACTGTGCCTGGACAGGTTCTGCAGGCTCCCCCACTTGGTCCCTGTGCTGGAGGGGAAGCAGAGAAGGGGCTGGCAGCCTCATCCCTGCGGGACCTTCACTGAGC... | ACGGCAGAACCCAGGGGAAAAGGTGGCAGGGAGTCTGAGAGTGAGGTTGGGAGGACCAGCATCTTTTAGGCCCTGAGCAAGAAGGAGGTGACCGGAGTCTTCCAGGTATCCCTCCCTCCTAGCTTCTGGAAGTGGGAGTCGGGGAGGGGGCTCCAGTCAGTCAGGTGTAAGCTCCATGCCATGGGGACTCTGCAGGACAGGCAGGCTTGAGGAGCCACTGTGCCTGGACAGGTTCTGCAGGCTCCCCCACTTGGTCCCTGTGCTGGAGGGGAAGCAGAGAAGGGGCTGGCAGCCTCATCCCTGCGGGACCTTCACTGAGC... |
Task1_train_13261 | The following genetic variant occurs in SLC25A25 (solute carrier family 25 member 25) on Chromosome 9. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Nephrolithiasis | CCCCTTGCCCGTACCTAGTACTTCTTGTGCCAGGAGCCCGGCTTGGAAGAGCTGCCTCCTTTCTCTCCCCAGTCTGCCTTGCTGGGCCTCCCTGTGTTGCACAGAGACAAAGGAAGCAGGTGGTTCAGGGCAGAATGCCTCGGGCTTGGACTCTGCCCAGGGCACCACCACAGCTGCCTCCCTCCCTCTTGTGGCCTTGAGCAAACCCCTTTCCCTCCCAGGACTTCCCCTCCTCTGTGAAAATAGGGGCTTGAACAACTGCCTCATCCTTTTGTTTTTTTAGCAGAATTATCAGGAATGTTGTAGAGATTGAAAGCAGG... | CCCCTTGCCCGTACCTAGTACTTCTTGTGCCAGGAGCCCGGCTTGGAAGAGCTGCCTCCTTTCTCTCCCCAGTCTGCCTTGCTGGGCCTCCCTGTGTTGCACAGAGACAAAGGAAGCAGGTGGTTCAGGGCAGAATGCCTCGGGCTTGGACTCTGCCCAGGGCACCACCACAGCTGCCTCCCTCCCTCTTGTGGCCTTGAGCAAACCCCTTTCCCTCCCAGGACTTCCCCTCCTCTGTGAAAATAGGGGCTTGAACAACTGCCTCATCCTTTTGTTTTTTTAGCAGAATTATCAGGAATGTTGTAGAGATTGAAAGCAGG... |
Task1_train_13262 | This mutation is located in gene DNM1, LOC113839516 (dynamin 1| H3K27ac-H3K4me1 hESC enhancers GRCh37_chr9:130980103-130981059 and GRCh37_chr9:130981060-130982015) on Chromosome 9. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Developmental and epileptic encephalopathy, 31A | GGATGACTTTGGGACCTCTCAGTCCAGTCCTTCAAAGGCGGCTCGGTTCACAGGGGGCTGAAGGGCAGGGGAGTGTCACTGCAGAGTCAAATATATCCGAGACCAGGGTCTGCTCTGCCAGATACTGGCTGTGCAACCTGAATGTCTCTAAGGTGCAGCTCCCTCATCTGCAAAATGGGGGTAATAACAGCACCTGCCTCATGGGGCTACAGTATGGAGCCCCACTAAGCGCCTGGCATGCAGTAGGCACTAAGAAGCATGAGTTTTTTTGTTTCTTTGTGGGTTTTTTTGAGGTGGAGTTTTGCTCTTGTCGCCTAGGC... | GGATGACTTTGGGACCTCTCAGTCCAGTCCTTCAAAGGCGGCTCGGTTCACAGGGGGCTGAAGGGCAGGGGAGTGTCACTGCAGAGTCAAATATATCCGAGACCAGGGTCTGCTCTGCCAGATACTGGCTGTGCAACCTGAATGTCTCTAAGGTGCAGCTCCCTCATCTGCAAAATGGGGGTAATAACAGCACCTGCCTCATGGGGCTACAGTATGGAGCCCCACTAAGCGCCTGGCATGCAGTAGGCACTAAGAAGCATGAGTTTTTTTGTTTCTTTGTGGGTTTTTTTGAGGTGGAGTTTTGCTCTTGTCGCCTAGGC... |
Task1_train_13263 | A mutation on Chromosome 9 affecting DNM1 (dynamin 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | AACACAGGACGTATCTAGGAGTTGATCCAGTCTCTTGGCAGCTCAGATGCATAAATTCTGTGACCCAGGCGACTTGAGGAAAAGTATTTTCCACCTTTCTGGGCTGCCATATGCTCTTAGTTACCTGAAGCCCCTGGGCTAAGGAGCGGTGGAGCCAGCACTTTGGAAGGAGCTTTGGCTTTCCCAGGGGCCGGACAGGTACCCCTGGGACAGAGGGCGCCCCCTCATATCTTGACCCTCCTTTGACCTCCAACTCATTGCAGGGACTTCTTGCCTCGAGGATCTGGCATTGTCACCCGACGTCCCCTGGTCTTGCAGCT... | AACACAGGACGTATCTAGGAGTTGATCCAGTCTCTTGGCAGCTCAGATGCATAAATTCTGTGACCCAGGCGACTTGAGGAAAAGTATTTTCCACCTTTCTGGGCTGCCATATGCTCTTAGTTACCTGAAGCCCCTGGGCTAAGGAGCGGTGGAGCCAGCACTTTGGAAGGAGCTTTGGCTTTCCCAGGGGCCGGACAGGTACCCCTGGGACAGAGGGCGCCCCCTCATATCTTGACCCTCCTTTGACCTCCAACTCATTGCAGGGACTTCTTGCCTCGAGGATCTGGCATTGTCACCCGACGTCCCCTGGTCTTGCAGCT... |
Task1_train_13264 | This sequence variant lies in DNM1 (dynamin 1) on Chromosome 9. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Developmental and epileptic encephalopathy, 31A | AGGGGCCGGACAGGTACCCCTGGGACAGAGGGCGCCCCCTCATATCTTGACCCTCCTTTGACCTCCAACTCATTGCAGGGACTTCTTGCCTCGAGGATCTGGCATTGTCACCCGACGTCCCCTGGTCTTGCAGCTGGTCAATGCAACCACAGGTACGTGCCCTCCTTCACCAGCAGCCAGGCCTGCCCACTCCAGCCTCTCCCCCGTCCCCAAGCTGAGGGCCAGCCTGGCCACGAACTTGCTTGCTGTGTGACTGTGGGCCTCGTTCCCCTTAGGGATAGCGGGGATCAAAATACATAATGGAGACGTGGGTGGTGGTT... | AGGGGCCGGACAGGTACCCCTGGGACAGAGGGCGCCCCCTCATATCTTGACCCTCCTTTGACCTCCAACTCATTGCAGGGACTTCTTGCCTCGAGGATCTGGCATTGTCACCCGACGTCCCCTGGTCTTGCAGCTGGTCAATGCAACCACAGGTACGTGCCCTCCTTCACCAGCAGCCAGGCCTGCCCACTCCAGCCTCTCCCCCGTCCCCAAGCTGAGGGCCAGCCTGGCCACGAACTTGCTTGCTGTGTGACTGTGGGCCTCGTTCCCCTTAGGGATAGCGGGGATCAAAATACATAATGGAGACGTGGGTGGTGGTT... |
Task1_train_13265 | This sequence change occurs on Chromosome 9, altering DNM1 (dynamin 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Inborn genetic diseases | AGGGGCCGGACAGGTACCCCTGGGACAGAGGGCGCCCCCTCATATCTTGACCCTCCTTTGACCTCCAACTCATTGCAGGGACTTCTTGCCTCGAGGATCTGGCATTGTCACCCGACGTCCCCTGGTCTTGCAGCTGGTCAATGCAACCACAGGTACGTGCCCTCCTTCACCAGCAGCCAGGCCTGCCCACTCCAGCCTCTCCCCCGTCCCCAAGCTGAGGGCCAGCCTGGCCACGAACTTGCTTGCTGTGTGACTGTGGGCCTCGTTCCCCTTAGGGATAGCGGGGATCAAAATACATAATGGAGACGTGGGTGGTGGTT... | AGGGGCCGGACAGGTACCCCTGGGACAGAGGGCGCCCCCTCATATCTTGACCCTCCTTTGACCTCCAACTCATTGCAGGGACTTCTTGCCTCGAGGATCTGGCATTGTCACCCGACGTCCCCTGGTCTTGCAGCTGGTCAATGCAACCACAGGTACGTGCCCTCCTTCACCAGCAGCCAGGCCTGCCCACTCCAGCCTCTCCCCCGTCCCCAAGCTGAGGGCCAGCCTGGCCACGAACTTGCTTGCTGTGTGACTGTGGGCCTCGTTCCCCTTAGGGATAGCGGGGATCAAAATACATAATGGAGACGTGGGTGGTGGTT... |
Task1_train_13266 | A variant found in Chromosome 9 affects DNM1 (dynamin 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Inborn genetic diseases | GCCGGACAGGTACCCCTGGGACAGAGGGCGCCCCCTCATATCTTGACCCTCCTTTGACCTCCAACTCATTGCAGGGACTTCTTGCCTCGAGGATCTGGCATTGTCACCCGACGTCCCCTGGTCTTGCAGCTGGTCAATGCAACCACAGGTACGTGCCCTCCTTCACCAGCAGCCAGGCCTGCCCACTCCAGCCTCTCCCCCGTCCCCAAGCTGAGGGCCAGCCTGGCCACGAACTTGCTTGCTGTGTGACTGTGGGCCTCGTTCCCCTTAGGGATAGCGGGGATCAAAATACATAATGGAGACGTGGGTGGTGGTTCTGC... | GCCGGACAGGTACCCCTGGGACAGAGGGCGCCCCCTCATATCTTGACCCTCCTTTGACCTCCAACTCATTGCAGGGACTTCTTGCCTCGAGGATCTGGCATTGTCACCCGACGTCCCCTGGTCTTGCAGCTGGTCAATGCAACCACAGGTACGTGCCCTCCTTCACCAGCAGCCAGGCCTGCCCACTCCAGCCTCTCCCCCGTCCCCAAGCTGAGGGCCAGCCTGGCCACGAACTTGCTTGCTGTGTGACTGTGGGCCTCGTTCCCCTTAGGGATAGCGGGGATCAAAATACATAATGGAGACGTGGGTGGTGGTTCTGC... |
Task1_train_13267 | This variant affects gene DNM1 (dynamin 1) located on Chromosome 9. Evaluate its biological effect and specify any disease association. | Pathogenic; Developmental and epileptic encephalopathy, 31A | CTTGATACTGTTCACAGGCTACATTGGAGTGGTGAACCGGAGCCAGAAGGACATTGATGGCAAGAAGGACATTACCGCCGCCTTGGCTGCTGAACGAAAGTTCTTCCTCTCCCATCCATCTTATCGCCACTTGGCTGACCGTATGGGCACGCCCTACCTGCAGAAGGTCCTCAATCAGGTAGGCGACCAAGCCAGGATGGGGCCTGGGGAAACAAGCATGAAAACAGGATAAATTAAGTGTGTTCTGAGAGTGAACAGCAGAGGTTAGCCTCTCCGTAGTGCAGATAGACAAACTGAGCCTCAGAAAAGCAAAGCAACTT... | CTTGATACTGTTCACAGGCTACATTGGAGTGGTGAACCGGAGCCAGAAGGACATTGATGGCAAGAAGGACATTACCGCCGCCTTGGCTGCTGAACGAAAGTTCTTCCTCTCCCATCCATCTTATCGCCACTTGGCTGACCGTATGGGCACGCCCTACCTGCAGAAGGTCCTCAATCAGGTAGGCGACCAAGCCAGGATGGGGCCTGGGGAAACAAGCATGAAAACAGGATAAATTAAGTGTGTTCTGAGAGTGAACAGCAGAGGTTAGCCTCTCCGTAGTGCAGATAGACAAACTGAGCCTCAGAAAAGCAAAGCAACTT... |
Task1_train_13268 | With a mutation on Chromosome 9 in gene DNM1 (dynamin 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Developmental and epileptic encephalopathy, 31A | ACTGAGCCTCAGAAAAGCAAAGCAACTTGCCCACAGCCCCACAGCTAGGTAGCAGCAAAGCTTCACTGACCTTTCCCTGTCTGGGACCTGCCAGGGAAGCCCTGGAAGTCCCCAACACAGAGAAGGCCAAGACCTATGTGGAGGGTGTCATGGGGAAGAGCTTGGGTTTGGGGGCCAGGATTCAAGTATACTCGGCTGAAGACCTTGACAGGGAATCCCAGGGGCTTCCCCAGGACTTTTCTCCATCTGGAATGGGGCATCCAGAACTGAAGTGCGCGCGCGCGCGCGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCTG... | ACTGAGCCTCAGAAAAGCAAAGCAACTTGCCCACAGCCCCACAGCTAGGTAGCAGCAAAGCTTCACTGACCTTTCCCTGTCTGGGACCTGCCAGGGAAGCCCTGGAAGTCCCCAACACAGAGAAGGCCAAGACCTATGTGGAGGGTGTCATGGGGAAGAGCTTGGGTTTGGGGGCCAGGATTCAAGTATACTCGGCTGAAGACCTTGACAGGGAATCCCAGGGGCTTCCCCAGGACTTTTCTCCATCTGGAATGGGGCATCCAGAACTGAAGTGCGCGCGCGCGCGCGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCTG... |
Task1_train_13269 | This mutation occurs in DNM1 (dynamin 1) on Chromosome 9. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | CTGAGCCTCAGAAAAGCAAAGCAACTTGCCCACAGCCCCACAGCTAGGTAGCAGCAAAGCTTCACTGACCTTTCCCTGTCTGGGACCTGCCAGGGAAGCCCTGGAAGTCCCCAACACAGAGAAGGCCAAGACCTATGTGGAGGGTGTCATGGGGAAGAGCTTGGGTTTGGGGGCCAGGATTCAAGTATACTCGGCTGAAGACCTTGACAGGGAATCCCAGGGGCTTCCCCAGGACTTTTCTCCATCTGGAATGGGGCATCCAGAACTGAAGTGCGCGCGCGCGCGCGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCTGA... | CTGAGCCTCAGAAAAGCAAAGCAACTTGCCCACAGCCCCACAGCTAGGTAGCAGCAAAGCTTCACTGACCTTTCCCTGTCTGGGACCTGCCAGGGAAGCCCTGGAAGTCCCCAACACAGAGAAGGCCAAGACCTATGTGGAGGGTGTCATGGGGAAGAGCTTGGGTTTGGGGGCCAGGATTCAAGTATACTCGGCTGAAGACCTTGACAGGGAATCCCAGGGGCTTCCCCAGGACTTTTCTCCATCTGGAATGGGGCATCCAGAACTGAAGTGCGCGCGCGCGCGCGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCTGA... |
Task1_train_13270 | This sequence change occurs on Chromosome 9, altering DNM1 (dynamin 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Inborn genetic diseases | CACAGCTAGGTAGCAGCAAAGCTTCACTGACCTTTCCCTGTCTGGGACCTGCCAGGGAAGCCCTGGAAGTCCCCAACACAGAGAAGGCCAAGACCTATGTGGAGGGTGTCATGGGGAAGAGCTTGGGTTTGGGGGCCAGGATTCAAGTATACTCGGCTGAAGACCTTGACAGGGAATCCCAGGGGCTTCCCCAGGACTTTTCTCCATCTGGAATGGGGCATCCAGAACTGAAGTGCGCGCGCGCGCGCGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCTGACTGTCTGTCTGTGTAGGCAAGACCTGGTTTCCAATCCC... | CACAGCTAGGTAGCAGCAAAGCTTCACTGACCTTTCCCTGTCTGGGACCTGCCAGGGAAGCCCTGGAAGTCCCCAACACAGAGAAGGCCAAGACCTATGTGGAGGGTGTCATGGGGAAGAGCTTGGGTTTGGGGGCCAGGATTCAAGTATACTCGGCTGAAGACCTTGACAGGGAATCCCAGGGGCTTCCCCAGGACTTTTCTCCATCTGGAATGGGGCATCCAGAACTGAAGTGCGCGCGCGCGCGCGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCTGACTGTCTGTCTGTGTAGGCAAGACCTGGTTTCCAATCCC... |
Task1_train_13271 | Here’s a variant in DNM1 (dynamin 1) located on Chromosome 9. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Developmental and epileptic encephalopathy, 31A | CACAGCTAGGTAGCAGCAAAGCTTCACTGACCTTTCCCTGTCTGGGACCTGCCAGGGAAGCCCTGGAAGTCCCCAACACAGAGAAGGCCAAGACCTATGTGGAGGGTGTCATGGGGAAGAGCTTGGGTTTGGGGGCCAGGATTCAAGTATACTCGGCTGAAGACCTTGACAGGGAATCCCAGGGGCTTCCCCAGGACTTTTCTCCATCTGGAATGGGGCATCCAGAACTGAAGTGCGCGCGCGCGCGCGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCTGACTGTCTGTCTGTGTAGGCAAGACCTGGTTTCCAATCCC... | CACAGCTAGGTAGCAGCAAAGCTTCACTGACCTTTCCCTGTCTGGGACCTGCCAGGGAAGCCCTGGAAGTCCCCAACACAGAGAAGGCCAAGACCTATGTGGAGGGTGTCATGGGGAAGAGCTTGGGTTTGGGGGCCAGGATTCAAGTATACTCGGCTGAAGACCTTGACAGGGAATCCCAGGGGCTTCCCCAGGACTTTTCTCCATCTGGAATGGGGCATCCAGAACTGAAGTGCGCGCGCGCGCGCGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCTGACTGTCTGTCTGTGTAGGCAAGACCTGGTTTCCAATCCC... |
Task1_train_13272 | Here is a mutation in DNM1 (dynamin 1) on Chromosome 9. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Inborn genetic diseases | TCCAATCCCAGTTTTGTCACTCCCCCTCTGAGACACTCTCTCTGGCTCTCTGAGCCTCTATTTCTTTTTTCTTTATTTGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTTCTTTCTTTCTTTCCTTTCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTCTCTTAGATGGAGTTTTGCTCTT... | TCCAATCCCAGTTTTGTCACTCCCCCTCTGAGACACTCTCTCTGGCTCTCTGAGCCTCTATTTCTTTTTTCTTTATTTGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTTCTTTCTTTCTTTCCTTTCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTCTCTTAGATGGAGTTTTGCTCTT... |
Task1_train_13273 | This gene mutation involves DNM1 (dynamin 1) on Chromosome 9. Is it associated with any clinical condition, or is it benign? | Pathogenic; Developmental and epileptic encephalopathy, 31A | TCCCAGTTTTGTCACTCCCCCTCTGAGACACTCTCTCTGGCTCTCTGAGCCTCTATTTCTTTTTTCTTTATTTGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTTCTTTCTTTCTTTCCTTTCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTCTCTTAGATGGAGTTTTGCTCTTGTCAC... | TCCCAGTTTTGTCACTCCCCCTCTGAGACACTCTCTCTGGCTCTCTGAGCCTCTATTTCTTTTTTCTTTATTTGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTTCTTTCTTTCTTTCCTTTCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTCTTTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTCTCTTAGATGGAGTTTTGCTCTTGTCAC... |
Task1_train_13274 | Here is a variant affecting COQ4, LOC130002704 (coenzyme Q4| ATAC-STARR-seq lymphoblastoid silent region 20335) on Chromosome 9. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | GCTGGGATTACAGGCGTGAGCCACCACGCCTAGCTAGATTACTTATAATGCCTAATATAATGCCTATGCATCACCTTGAGTGGATTCAACACAGTACTAGGTGCACAGCAAATTCAAGTTTTGCTTTTTGGAACTTTGTGTTTTTCTTCCCAAATACTGCCAATCTGAAGCTGGATCATGGGATGTGGAACTCATGGACTCAGAGGCAACTGTACTTAGTGACACGTGAAAATTACCTGAAGTTCAAATATGAATATTCATAAAGTTCTATTGGAATACAGCTAGGCTCATTCCTTTAGATACTGTCTATAGCTGTTTGG... | GCTGGGATTACAGGCGTGAGCCACCACGCCTAGCTAGATTACTTATAATGCCTAATATAATGCCTATGCATCACCTTGAGTGGATTCAACACAGTACTAGGTGCACAGCAAATTCAAGTTTTGCTTTTTGGAACTTTGTGTTTTTCTTCCCAAATACTGCCAATCTGAAGCTGGATCATGGGATGTGGAACTCATGGACTCAGAGGCAACTGTACTTAGTGACACGTGAAAATTACCTGAAGTTCAAATATGAATATTCATAAAGTTCTATTGGAATACAGCTAGGCTCATTCCTTTAGATACTGTCTATAGCTGTTTGG... |
Task1_train_13275 | This variant impacts the gene COQ4 (coenzyme Q4) on Chromosome 9. Is the change likely to result in a pathogenic outcome? | Pathogenic; Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | ATGCCTAATATAATGCCTATGCATCACCTTGAGTGGATTCAACACAGTACTAGGTGCACAGCAAATTCAAGTTTTGCTTTTTGGAACTTTGTGTTTTTCTTCCCAAATACTGCCAATCTGAAGCTGGATCATGGGATGTGGAACTCATGGACTCAGAGGCAACTGTACTTAGTGACACGTGAAAATTACCTGAAGTTCAAATATGAATATTCATAAAGTTCTATTGGAATACAGCTAGGCTCATTCCTTTAGATACTGTCTATAGCTGTTTGGCACTACATTGGCAGAGTTGAGCAGTTCCAACGGAAATCACATGGCCT... | ATGCCTAATATAATGCCTATGCATCACCTTGAGTGGATTCAACACAGTACTAGGTGCACAGCAAATTCAAGTTTTGCTTTTTGGAACTTTGTGTTTTTCTTCCCAAATACTGCCAATCTGAAGCTGGATCATGGGATGTGGAACTCATGGACTCAGAGGCAACTGTACTTAGTGACACGTGAAAATTACCTGAAGTTCAAATATGAATATTCATAAAGTTCTATTGGAATACAGCTAGGCTCATTCCTTTAGATACTGTCTATAGCTGTTTGGCACTACATTGGCAGAGTTGAGCAGTTCCAACGGAAATCACATGGCCT... |
Task1_train_13276 | Given a variant located on Chromosome 9 and affecting COQ4 (coenzyme Q4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Spastic ataxia | TGAGCTGAGGAGTTTGAAACCAGCCTGGGCAACACGGTGAATCCCCATCTCTACAAAAAAAAATACAAGAATTAATTGGGGCTGGTTGCATGCGGCTGTATTCCCAGGCTGAGGTGGAAGGACCATTTGAGCCGGGGAGTTCGAGACTGCAGTAAGTTGTGATTGCGCCATTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTTAAACAAAAAATACACTATATCTCCATGTCCCCAGTGGTTTTTTGTTTGTTTTGTTTTGAGACACAGTATTGCTCTGTGGCCCACGCTGGAGTGCAGTGGCGCAATCTCAGC... | TGAGCTGAGGAGTTTGAAACCAGCCTGGGCAACACGGTGAATCCCCATCTCTACAAAAAAAAATACAAGAATTAATTGGGGCTGGTTGCATGCGGCTGTATTCCCAGGCTGAGGTGGAAGGACCATTTGAGCCGGGGAGTTCGAGACTGCAGTAAGTTGTGATTGCGCCATTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTTAAACAAAAAATACACTATATCTCCATGTCCCCAGTGGTTTTTTGTTTGTTTTGTTTTGAGACACAGTATTGCTCTGTGGCCCACGCTGGAGTGCAGTGGCGCAATCTCAGC... |
Task1_train_13277 | A variant found in Chromosome 9 affects COQ4 (coenzyme Q4). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | CAAGAATTAATTGGGGCTGGTTGCATGCGGCTGTATTCCCAGGCTGAGGTGGAAGGACCATTTGAGCCGGGGAGTTCGAGACTGCAGTAAGTTGTGATTGCGCCATTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTTAAACAAAAAATACACTATATCTCCATGTCCCCAGTGGTTTTTTGTTTGTTTTGTTTTGAGACACAGTATTGCTCTGTGGCCCACGCTGGAGTGCAGTGGCGCAATCTCAGCTCTATGCAACTTCCACCTCCCAGGTTCAAGCGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGA... | CAAGAATTAATTGGGGCTGGTTGCATGCGGCTGTATTCCCAGGCTGAGGTGGAAGGACCATTTGAGCCGGGGAGTTCGAGACTGCAGTAAGTTGTGATTGCGCCATTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTTAAACAAAAAATACACTATATCTCCATGTCCCCAGTGGTTTTTTGTTTGTTTTGTTTTGAGACACAGTATTGCTCTGTGGCCCACGCTGGAGTGCAGTGGCGCAATCTCAGCTCTATGCAACTTCCACCTCCCAGGTTCAAGCGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGA... |
Task1_train_13278 | With a mutation on Chromosome 9 in gene COQ4 (coenzyme Q4), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | AAGAATTAATTGGGGCTGGTTGCATGCGGCTGTATTCCCAGGCTGAGGTGGAAGGACCATTTGAGCCGGGGAGTTCGAGACTGCAGTAAGTTGTGATTGCGCCATTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTTAAACAAAAAATACACTATATCTCCATGTCCCCAGTGGTTTTTTGTTTGTTTTGTTTTGAGACACAGTATTGCTCTGTGGCCCACGCTGGAGTGCAGTGGCGCAATCTCAGCTCTATGCAACTTCCACCTCCCAGGTTCAAGCGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGAT... | AAGAATTAATTGGGGCTGGTTGCATGCGGCTGTATTCCCAGGCTGAGGTGGAAGGACCATTTGAGCCGGGGAGTTCGAGACTGCAGTAAGTTGTGATTGCGCCATTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTTAAACAAAAAATACACTATATCTCCATGTCCCCAGTGGTTTTTTGTTTGTTTTGTTTTGAGACACAGTATTGCTCTGTGGCCCACGCTGGAGTGCAGTGGCGCAATCTCAGCTCTATGCAACTTCCACCTCCCAGGTTCAAGCGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGAT... |
Task1_train_13279 | Gene COQ4 (coenzyme Q4), found on Chromosome 9, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | CCCAGGCGGGTGGATCACGAAGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAAAAAAAAAAAAAATTAGCCGGGTGTAGTGGCACGTGCCTGTAATCCTAGCTACTCAGGAAGCTGAGGCAGAAGAATTGCTTGAATCCGGGAGGAGGAGATTGCAGTAAGCCGAGATTGCACCACGGCACTCCAACCTGGGCGACAGAGTGAGACTCCATCTCAAAAAATAAAAATAAAAATAAATAAATAAAATGTGAGCACGTAGGTAATTTTTAATTTTCTGCCAGCTACTTTAATAGCAAA... | CCCAGGCGGGTGGATCACGAAGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAAAAAAAAAAAAAATTAGCCGGGTGTAGTGGCACGTGCCTGTAATCCTAGCTACTCAGGAAGCTGAGGCAGAAGAATTGCTTGAATCCGGGAGGAGGAGATTGCAGTAAGCCGAGATTGCACCACGGCACTCCAACCTGGGCGACAGAGTGAGACTCCATCTCAAAAAATAAAAATAAAAATAAATAAATAAAATGTGAGCACGTAGGTAATTTTTAATTTTCTGCCAGCTACTTTAATAGCAAA... |
Task1_train_13280 | This variant affects gene SLC27A4 (solute carrier family 27 member 4) located on Chromosome 9. Evaluate its biological effect and specify any disease association. | Pathogenic; Ichthyosis prematurity syndrome | GTTGTTCCTCTACTTGGGATCTGGCGGCTGGCGCTTCATCCGGGTCTTCATCAAGACCATCAGGCGCGATATCTTGTGAGTACCTGGCCCAGCCTTTCCTGGGGTCTGCCACACTACAGTGAGCTTCTGGTCCCCCAAATCTCCCCAGGCCAGACCTCATGTTCTCTACCAGCACAGGGCAGCTGAGCTGAGTTCCAGAACAGCAGCCTCTGCTCCACACCCGTACCCTGGCAATAGTACCTGGTCCCTCCATCTCCAAGGTCAAAGTCTTCTCCCAGGGAATCTCCCTAACTTGAGGCTCCCAGGCCTTGGGCAGGCTT... | GTTGTTCCTCTACTTGGGATCTGGCGGCTGGCGCTTCATCCGGGTCTTCATCAAGACCATCAGGCGCGATATCTTGTGAGTACCTGGCCCAGCCTTTCCTGGGGTCTGCCACACTACAGTGAGCTTCTGGTCCCCCAAATCTCCCCAGGCCAGACCTCATGTTCTCTACCAGCACAGGGCAGCTGAGCTGAGTTCCAGAACAGCAGCCTCTGCTCCACACCCGTACCCTGGCAATAGTACCTGGTCCCTCCATCTCCAAGGTCAAAGTCTTCTCCCAGGGAATCTCCCTAACTTGAGGCTCCCAGGCCTTGGGCAGGCTT... |
Task1_train_13281 | A genetic alteration is present in SLC27A4 (solute carrier family 27 member 4) on Chromosome 9. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Ichthyosis prematurity syndrome | GAGGGGCTGTCAATGGTCCCTCCTTCCCAGGGCTGTGAGACCAGGGAATGCAGGTAAAGCGGACCTACTCTGTGGTTAGCCCATGGCTAATAGAACCATTGCCGGTGCCCCTGTCAACACTGAAGGCCCAGTTGCTTCACTGCCTCTCCTCCTGCCCAGCCAGTATCCTCAGCAACATGGCCAGCCCTGCTGGGAGCAGAGGTCCCTGGGAACATGGGGTTTTCTGGCCTGCCTGCTGACTGCCCTGTCTCCCCACAGCCATCTGTGAGGTCCATGCCAGCCTGGACCCCTCGCTCAGCCTCTTCTGCTCTGGCTCCTGG... | GAGGGGCTGTCAATGGTCCCTCCTTCCCAGGGCTGTGAGACCAGGGAATGCAGGTAAAGCGGACCTACTCTGTGGTTAGCCCATGGCTAATAGAACCATTGCCGGTGCCCCTGTCAACACTGAAGGCCCAGTTGCTTCACTGCCTCTCCTCCTGCCCAGCCAGTATCCTCAGCAACATGGCCAGCCCTGCTGGGAGCAGAGGTCCCTGGGAACATGGGGTTTTCTGGCCTGCCTGCTGACTGCCCTGTCTCCCCACAGCCATCTGTGAGGTCCATGCCAGCCTGGACCCCTCGCTCAGCCTCTTCTGCTCTGGCTCCTGG... |
Task1_train_13282 | A variant found in Chromosome 9 affects SLC27A4 (solute carrier family 27 member 4). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Ichthyosis prematurity syndrome | GCCAGGTCTCTAGGAACCCCACCCCCATCAGGCAGTGTGCTGCAGTAGAAACACACAGCTTTGGGCCAGGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTA... | GCCAGGTCTCTAGGAACCCCACCCCCATCAGGCAGTGTGCTGCAGTAGAAACACACAGCTTTGGGCCAGGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTA... |
Task1_train_13283 | A variant on Chromosome 9 in gene SLC27A4 (solute carrier family 27 member 4) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Lamellar ichthyosis | GCCAGGTCTCTAGGAACCCCACCCCCATCAGGCAGTGTGCTGCAGTAGAAACACACAGCTTTGGGCCAGGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTA... | GCCAGGTCTCTAGGAACCCCACCCCCATCAGGCAGTGTGCTGCAGTAGAAACACACAGCTTTGGGCCAGGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTA... |
Task1_train_13284 | The following genetic variant occurs in SLC27A4 (solute carrier family 27 member 4) on Chromosome 9. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Ichthyosis prematurity syndrome | AGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACACTGTCTCAAAAAAAATAAAAATAGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGTGAGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGTTAACATGGTGAAACCCTGTCTCTACTAAAAGTACAAAAAGTAGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACCCAGGAGGCTGAGGCAGGAGAATGGTTTGAACCCAGGAGGCAAAGGTTGCAGTGAGCCTAGATCGTGCCATTGCACATCAGCCTGGGTG... | AGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACACTGTCTCAAAAAAAATAAAAATAGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGTGAGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGTTAACATGGTGAAACCCTGTCTCTACTAAAAGTACAAAAAGTAGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACCCAGGAGGCTGAGGCAGGAGAATGGTTTGAACCCAGGAGGCAAAGGTTGCAGTGAGCCTAGATCGTGCCATTGCACATCAGCCTGGGTG... |
Task1_train_13285 | A variant affecting Chromosome 9, within the gene SLC27A4 (solute carrier family 27 member 4), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Ichthyosis prematurity syndrome | TGGGGGCCTGTGGTTTCAATAGCCGCATCCTGTCCTTCGTGTACCCCATCCGGTTGGTACGTGTCAACGAGGACACCATGGAGCTGATCCGGGGGCCCGACGGCGTCTGCATTCCCTGCCAGCCAGGTCTGCCACTTCGGGGTCAGAGAGGGAGGGGTTGGCCTGGGAAGGAAGGAGGCCAGGCGCGTGTGGATGGGGAGCCTTGTTCTGACCAGTGGCCATCAGTTATCTCTGCTCTTAGGGTTACAAGTTACTCATTTATTTGTGTATCCATCCATTCATTCATTCATTCGCCATTCTATCTGTACATCAGTCCATTC... | TGGGGGCCTGTGGTTTCAATAGCCGCATCCTGTCCTTCGTGTACCCCATCCGGTTGGTACGTGTCAACGAGGACACCATGGAGCTGATCCGGGGGCCCGACGGCGTCTGCATTCCCTGCCAGCCAGGTCTGCCACTTCGGGGTCAGAGAGGGAGGGGTTGGCCTGGGAAGGAAGGAGGCCAGGCGCGTGTGGATGGGGAGCCTTGTTCTGACCAGTGGCCATCAGTTATCTCTGCTCTTAGGGTTACAAGTTACTCATTTATTTGTGTATCCATCCATTCATTCATTCATTCGCCATTCTATCTGTACATCAGTCCATTC... |
Task1_train_13286 | An alteration has been detected in SLC27A4 (solute carrier family 27 member 4) on Chromosome 9. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not specified | ACATCAGTCCATTCATTCATTCTTTTTTTTTTTTTTATTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC... | ACATCAGTCCATTCATTCATTCTTTTTTTTTTTTTTATTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC... |
Task1_train_13287 | This variant affects the gene SLC27A4 (solute carrier family 27 member 4) found on Chromosome 9. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Inborn genetic diseases | TTTTTTTTTTATTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGCAATTCTCTTTTCTCACCCTCC... | TTTTTTTTTTATTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGCAATTCTCTTTTCTCACCCTCC... |
Task1_train_13288 | A mutation found in GLE1, LOC101929270 (GLE1 RNA export mediator| uncharacterized LOC101929270) on Chromosome 9 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Lethal arthrogryposis-anterior horn cell disease syndrome | TTTTGGCCTTGTCCCAGTGAATTTTTTCTTATTTCTTTTTTTTGAGACACAGTCTTACTGTTACCCAGGCTGGAGTGCAGTGATGCAATCTTGACTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAATTAGCTGGGACAAACAGGCATGCACCACCATACCCAGTTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACATTGGCCAGGCTAGTCTTGAACTCCTGGCCTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCACACCC... | TTTTGGCCTTGTCCCAGTGAATTTTTTCTTATTTCTTTTTTTTGAGACACAGTCTTACTGTTACCCAGGCTGGAGTGCAGTGATGCAATCTTGACTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAATTAGCTGGGACAAACAGGCATGCACCACCATACCCAGTTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACATTGGCCAGGCTAGTCTTGAACTCCTGGCCTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCACACCC... |
Task1_train_13289 | Here’s a variant in GLE1, LOC101929270 (GLE1 RNA export mediator| uncharacterized LOC101929270) located on Chromosome 9. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | ACCAAAAAAATACAAAAATTAGTGGTGTGTGCCTGTGGTCCCAGTTACTGAGGAGGCTGAGGTTGGAGGATCACCTGAGCCCAGGGAGGTTGAGGCTACAGTGAGCTGTGATCATGCCAGTGTCCTCTAGCCTGGGCGACAGAGTGAGACCCTATTTCAAAAAAAAATAAAAAGCTCCTGAAGTCACCATACATGAACAATGATCCTGTATCATTTGAGAACACAAGTGGTATTCTGTATACTCTCCTTACTAAGTTTGGGAGGTATACCATACCTTTAGGAAGGCGTCCATTCATTAGAGGAAAAGAAGAGTAGTTCAT... | ACCAAAAAAATACAAAAATTAGTGGTGTGTGCCTGTGGTCCCAGTTACTGAGGAGGCTGAGGTTGGAGGATCACCTGAGCCCAGGGAGGTTGAGGCTACAGTGAGCTGTGATCATGCCAGTGTCCTCTAGCCTGGGCGACAGAGTGAGACCCTATTTCAAAAAAAAATAAAAAGCTCCTGAAGTCACCATACATGAACAATGATCCTGTATCATTTGAGAACACAAGTGGTATTCTGTATACTCTCCTTACTAAGTTTGGGAGGTATACCATACCTTTAGGAAGGCGTCCATTCATTAGAGGAAAAGAAGAGTAGTTCAT... |
Task1_train_13290 | An alteration has been detected in SPTAN1 (spectrin alpha, non-erythrocytic 1) on Chromosome 9. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Developmental and epileptic encephalopathy, 5 | AAAAAAAATTAAAAACAGAAAAAAGTAGTACATAATCAATGTAAAATAGTCAAACTACTGAATGCCATATTGTTAAAAATAAGTCTCTGCAGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGTCAAAGCAGGTGGATCACGAGGTCAGGAATTCAGGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAACCAGCCGGGCGTGGTGGCACACTGGCACACACCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCATTTGAACCTGGAGGCGGAGGTTGCAGTG... | AAAAAAAATTAAAAACAGAAAAAAGTAGTACATAATCAATGTAAAATAGTCAAACTACTGAATGCCATATTGTTAAAAATAAGTCTCTGCAGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGTCAAAGCAGGTGGATCACGAGGTCAGGAATTCAGGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAACCAGCCGGGCGTGGTGGCACACTGGCACACACCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCATTTGAACCTGGAGGCGGAGGTTGCAGTG... |
Task1_train_13291 | The following genetic variant occurs in SPTAN1 (spectrin alpha, non-erythrocytic 1) on Chromosome 9. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Developmental and epileptic encephalopathy, 5 | CTCCAGTATTTGTGTTACTCTGCGTAGATTATTGTTATTATTGTGGTCACACGGTTTGCTGGTGTCTCTTCATCCATCCTTTTCATTTCTAATCATCCATTACACTCCATTCAAGTGTCCCTGTGGGATGTGGCTTTTTCTGTTGTAATTAGCCTGCAACGCCTTACTCCCCCTTCTCTCCCCCAGTTTATCACTTAGGCAAATTCTGTACAGTGTTTGATTTGCGGGGCAGTAATTGACCATTTTCTTTCAAGGAGTGCTTCCTTTTGAAGATGGAACATCAGCTTCAGCTTTTTCTGTGTAGACATTGGCTCAGACTT... | CTCCAGTATTTGTGTTACTCTGCGTAGATTATTGTTATTATTGTGGTCACACGGTTTGCTGGTGTCTCTTCATCCATCCTTTTCATTTCTAATCATCCATTACACTCCATTCAAGTGTCCCTGTGGGATGTGGCTTTTTCTGTTGTAATTAGCCTGCAACGCCTTACTCCCCCTTCTCTCCCCCAGTTTATCACTTAGGCAAATTCTGTACAGTGTTTGATTTGCGGGGCAGTAATTGACCATTTTCTTTCAAGGAGTGCTTCCTTTTGAAGATGGAACATCAGCTTCAGCTTTTTCTGTGTAGACATTGGCTCAGACTT... |
Task1_train_13292 | This sequence variant lies in SPTAN1 (spectrin alpha, non-erythrocytic 1) on Chromosome 9. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Self-limited epilepsy with centrotemporal spikes | ATTGTGGTCACACGGTTTGCTGGTGTCTCTTCATCCATCCTTTTCATTTCTAATCATCCATTACACTCCATTCAAGTGTCCCTGTGGGATGTGGCTTTTTCTGTTGTAATTAGCCTGCAACGCCTTACTCCCCCTTCTCTCCCCCAGTTTATCACTTAGGCAAATTCTGTACAGTGTTTGATTTGCGGGGCAGTAATTGACCATTTTCTTTCAAGGAGTGCTTCCTTTTGAAGATGGAACATCAGCTTCAGCTTTTTCTGTGTAGACATTGGCTCAGACTTGCTATGAGCTCATGGTGTTCGGTGGCCTGGGTTGGGGAG... | ATTGTGGTCACACGGTTTGCTGGTGTCTCTTCATCCATCCTTTTCATTTCTAATCATCCATTACACTCCATTCAAGTGTCCCTGTGGGATGTGGCTTTTTCTGTTGTAATTAGCCTGCAACGCCTTACTCCCCCTTCTCTCCCCCAGTTTATCACTTAGGCAAATTCTGTACAGTGTTTGATTTGCGGGGCAGTAATTGACCATTTTCTTTCAAGGAGTGCTTCCTTTTGAAGATGGAACATCAGCTTCAGCTTTTTCTGTGTAGACATTGGCTCAGACTTGCTATGAGCTCATGGTGTTCGGTGGCCTGGGTTGGGGAG... |
Task1_train_13293 | This mutation occurs in SPTAN1 (spectrin alpha, non-erythrocytic 1) on Chromosome 9. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Self-limited epilepsy with centrotemporal spikes | CATTAGGTAAAGATGGCCAGTTGCAGTTAGGTTTGGTTTCCTTAAAAGGAATGTGAGGTTGCCAGGCATTGCTCTCTCTGAGAGAAGGTTCATTCTGAGCTCTCGGCCAGCTGGGAGCAGGCCCCTTTCCTCACTGTCCTTCCACGTTTAGGTCCTGTATGGTGGAAGAGTCGGGGACCCTCGAATCCCAGCTTGAAGCTACCAAAGTAAGTGCCCGTGGGGCTCTGGCCCAGCAGAGACCCTTCACCCAGCCACCCCCCAGGGTACCCCTTCCCTTCCTGGCTTAAAGTCAGGAACCAGATGTGCTATTATTGTACCCT... | CATTAGGTAAAGATGGCCAGTTGCAGTTAGGTTTGGTTTCCTTAAAAGGAATGTGAGGTTGCCAGGCATTGCTCTCTCTGAGAGAAGGTTCATTCTGAGCTCTCGGCCAGCTGGGAGCAGGCCCCTTTCCTCACTGTCCTTCCACGTTTAGGTCCTGTATGGTGGAAGAGTCGGGGACCCTCGAATCCCAGCTTGAAGCTACCAAAGTAAGTGCCCGTGGGGCTCTGGCCCAGCAGAGACCCTTCACCCAGCCACCCCCCAGGGTACCCCTTCCCTTCCTGGCTTAAAGTCAGGAACCAGATGTGCTATTATTGTACCCT... |
Task1_train_13294 | Gene SPTAN1 (spectrin alpha, non-erythrocytic 1) on Chromosome 9 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TCGGCCAGCTGGGAGCAGGCCCCTTTCCTCACTGTCCTTCCACGTTTAGGTCCTGTATGGTGGAAGAGTCGGGGACCCTCGAATCCCAGCTTGAAGCTACCAAAGTAAGTGCCCGTGGGGCTCTGGCCCAGCAGAGACCCTTCACCCAGCCACCCCCCAGGGTACCCCTTCCCTTCCTGGCTTAAAGTCAGGAACCAGATGTGCTATTATTGTACCCTTTTCCCTTGGCCTAAAGCAGTCTAGGGCTCTTCACTATCTCTCTCTCTTTTCTTTCTTTCTTCATGGAATCTCTCTCTCGCCCAGGCTGGAGTGCAGTGGTG... | TCGGCCAGCTGGGAGCAGGCCCCTTTCCTCACTGTCCTTCCACGTTTAGGTCCTGTATGGTGGAAGAGTCGGGGACCCTCGAATCCCAGCTTGAAGCTACCAAAGTAAGTGCCCGTGGGGCTCTGGCCCAGCAGAGACCCTTCACCCAGCCACCCCCCAGGGTACCCCTTCCCTTCCTGGCTTAAAGTCAGGAACCAGATGTGCTATTATTGTACCCTTTTCCCTTGGCCTAAAGCAGTCTAGGGCTCTTCACTATCTCTCTCTCTTTTCTTTCTTTCTTCATGGAATCTCTCTCTCGCCCAGGCTGGAGTGCAGTGGTG... |
Task1_train_13295 | A variant has been detected on Chromosome 9 in SPTAN1 (spectrin alpha, non-erythrocytic 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Developmental and epileptic encephalopathy, 5 | CCAAGTAGCTGGGATTACAGGCGCCCACCACCACACCTGGGTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCAGGCTGGTCTCGAACTCCTGACCTCGGCTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCACATCTGGCCTAGTTTTTATATTTTTAGTAGAGACAGTGTTTTGCCTTGTTGGCCAGGCCGGTCTGGAACTCCTGATCTCCAGTGATCTGTCCACCTCAGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCACTCCCGGCCGAG... | CCAAGTAGCTGGGATTACAGGCGCCCACCACCACACCTGGGTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCAGGCTGGTCTCGAACTCCTGACCTCGGCTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCACATCTGGCCTAGTTTTTATATTTTTAGTAGAGACAGTGTTTTGCCTTGTTGGCCAGGCCGGTCTGGAACTCCTGATCTCCAGTGATCTGTCCACCTCAGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCACTCCCGGCCGAG... |
Task1_train_13296 | This variant affects gene DYNC2I2 (dynein 2 intermediate chain 2) located on Chromosome 9. Evaluate its biological effect and specify any disease association. | Pathogenic; Short-rib thoracic dysplasia 11 with or without polydactyly | CCTGGACAACAAGTACACGGAGCACAGCACCGTGGGCCTCGCCCAGCAGTGGGACCAGCTGGACCAGCTGGGCATGCGCATGCAGCACAACCTGGAGCAGCAGATCCAGGCCAGGTACCCGGGAGGGCTGTGGGCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGACACAGTCACCTGCTGTGTGGAGGGTCTGTTCCCTAATTTCTGTTTTTCTTCCAGGAACACAACAGGTGTGACTGAGGAGGCCCTCAAAGAATTCAGCATGATGTTTAAGTGAGTTCAGCCTTACTCGCCCTGGCTGGGTGGGGGGTGTTCGGC... | CCTGGACAACAAGTACACGGAGCACAGCACCGTGGGCCTCGCCCAGCAGTGGGACCAGCTGGACCAGCTGGGCATGCGCATGCAGCACAACCTGGAGCAGCAGATCCAGGCCAGGTACCCGGGAGGGCTGTGGGCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGACACAGTCACCTGCTGTGTGGAGGGTCTGTTCCCTAATTTCTGTTTTTCTTCCAGGAACACAACAGGTGTGACTGAGGAGGCCCTCAAAGAATTCAGCATGATGTTTAAGTGAGTTCAGCCTTACTCGCCCTGGCTGGGTGGGGGGTGTTCGGC... |
Task1_train_13297 | The gene DYNC2I2 (dynein 2 intermediate chain 2) on Chromosome 9 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Short-rib thoracic dysplasia 11 with or without polydactyly | GGGCCTCGCCCAGCAGTGGGACCAGCTGGACCAGCTGGGCATGCGCATGCAGCACAACCTGGAGCAGCAGATCCAGGCCAGGTACCCGGGAGGGCTGTGGGCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGACACAGTCACCTGCTGTGTGGAGGGTCTGTTCCCTAATTTCTGTTTTTCTTCCAGGAACACAACAGGTGTGACTGAGGAGGCCCTCAAAGAATTCAGCATGATGTTTAAGTGAGTTCAGCCTTACTCGCCCTGGCTGGGTGGGGGGTGTTCGGCAGCAGGGCTGCCTGCTGAGCCGCCCTCGGCTTT... | GGGCCTCGCCCAGCAGTGGGACCAGCTGGACCAGCTGGGCATGCGCATGCAGCACAACCTGGAGCAGCAGATCCAGGCCAGGTACCCGGGAGGGCTGTGGGCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGACACAGTCACCTGCTGTGTGGAGGGTCTGTTCCCTAATTTCTGTTTTTCTTCCAGGAACACAACAGGTGTGACTGAGGAGGCCCTCAAAGAATTCAGCATGATGTTTAAGTGAGTTCAGCCTTACTCGCCCTGGCTGGGTGGGGGGTGTTCGGCAGCAGGGCTGCCTGCTGAGCCGCCCTCGGCTTT... |
Task1_train_13298 | A variant on Chromosome 9 in gene DYNC2I2, LOC126860772 (dynein 2 intermediate chain 2| CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:131396972-131398171) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; DYNC2I2-related disorder | TCCCCCGCTCCTAGAGATGGCCATGTCTCCTTGCAAGAATACATGGCTTTCATGATCAGCCGCGAAACTGAGAACGTCAAGTCCAGCGAGGAGATTGAGAGCGCCTTCCGGGCCCTCAGCTCAGAGGGAAAGCCTTACGTGACCAAGGAGGAGCTCTACCAGGTATGGGCCTCAGGAGGTGGGTGAAGAGGTGTCCTTTGGAAAACTAAAGCCAAATTTGTGGCAGAGCTGAGTCTGGGGTAACAGGCCCTGCGCTGGGTATTCTCCCCATTTACAAATCAAACTCAGTATGGACAGAAGTCCCGGATCTGCTTGTAGAA... | TCCCCCGCTCCTAGAGATGGCCATGTCTCCTTGCAAGAATACATGGCTTTCATGATCAGCCGCGAAACTGAGAACGTCAAGTCCAGCGAGGAGATTGAGAGCGCCTTCCGGGCCCTCAGCTCAGAGGGAAAGCCTTACGTGACCAAGGAGGAGCTCTACCAGGTATGGGCCTCAGGAGGTGGGTGAAGAGGTGTCCTTTGGAAAACTAAAGCCAAATTTGTGGCAGAGCTGAGTCTGGGGTAACAGGCCCTGCGCTGGGTATTCTCCCCATTTACAAATCAAACTCAGTATGGACAGAAGTCCCGGATCTGCTTGTAGAA... |
Task1_train_13299 | Chromosome 9 houses a mutation in gene DYNC2I2, LOC126860772 (dynein 2 intermediate chain 2| CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:131396972-131398171). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Short-rib thoracic dysplasia 11 with or without polydactyly | TACATGGCTTTCATGATCAGCCGCGAAACTGAGAACGTCAAGTCCAGCGAGGAGATTGAGAGCGCCTTCCGGGCCCTCAGCTCAGAGGGAAAGCCTTACGTGACCAAGGAGGAGCTCTACCAGGTATGGGCCTCAGGAGGTGGGTGAAGAGGTGTCCTTTGGAAAACTAAAGCCAAATTTGTGGCAGAGCTGAGTCTGGGGTAACAGGCCCTGCGCTGGGTATTCTCCCCATTTACAAATCAAACTCAGTATGGACAGAAGTCCCGGATCTGCTTGTAGAAGCAGCTCCGAGCCCCCAGCATCCTGAGACCTGGGAGGTC... | TACATGGCTTTCATGATCAGCCGCGAAACTGAGAACGTCAAGTCCAGCGAGGAGATTGAGAGCGCCTTCCGGGCCCTCAGCTCAGAGGGAAAGCCTTACGTGACCAAGGAGGAGCTCTACCAGGTATGGGCCTCAGGAGGTGGGTGAAGAGGTGTCCTTTGGAAAACTAAAGCCAAATTTGTGGCAGAGCTGAGTCTGGGGTAACAGGCCCTGCGCTGGGTATTCTCCCCATTTACAAATCAAACTCAGTATGGACAGAAGTCCCGGATCTGCTTGTAGAAGCAGCTCCGAGCCCCCAGCATCCTGAGACCTGGGAGGTC... |
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