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_9500 | Consider this mutation in TGFBI (transforming growth factor beta induced) on Chromosome 5. Is this a benign change or a disease-causing variant? | Pathogenic; Reis-Bucklers' corneal dystrophy | CCAACTGACTGCTGGGGCAGATTTGTGGTCATGAACATGTGCTTTGTGTCCTCTGACCATTAGACAGATTGTGGGTCACAACGTTGAGTATACAGTGGGAGCTTAATAAGTGCTTATTCCCTGGGCAGGGAGTTCTTCATTTCAGGGGTGACCACTTACATCTTCTCCTCTGGGCCCTCCTTGACCAGGCTAATTACCATTCTTGGGATTAACTCTATCTCCTTTTCCCGCAACCTGCAGGAGATGCCAAGGAACTTGCCAACATCCTGAAATACCACATTGGTGATGAAATCCTGGTTAGCGGAGGCATCGGGGCCCTG... | CCAACTGACTGCTGGGGCAGATTTGTGGTCATGAACATGTGCTTTGTGTCCTCTGACCATTAGACAGATTGTGGGTCACAACGTTGAGTATACAGTGGGAGCTTAATAAGTGCTTATTCCCTGGGCAGGGAGTTCTTCATTTCAGGGGTGACCACTTACATCTTCTCCTCTGGGCCCTCCTTGACCAGGCTAATTACCATTCTTGGGATTAACTCTATCTCCTTTTCCCGCAACCTGCAGGAGATGCCAAGGAACTTGCCAACATCCTGAAATACCACATTGGTGATGAAATCCTGGTTAGCGGAGGCATCGGGGCCCTG... |
Task1_train_9501 | Consider this mutation in TGFBI (transforming growth factor beta induced) on Chromosome 5. Is this a benign change or a disease-causing variant? | Pathogenic; Inborn genetic diseases | TGCTGGGGCAGATTTGTGGTCATGAACATGTGCTTTGTGTCCTCTGACCATTAGACAGATTGTGGGTCACAACGTTGAGTATACAGTGGGAGCTTAATAAGTGCTTATTCCCTGGGCAGGGAGTTCTTCATTTCAGGGGTGACCACTTACATCTTCTCCTCTGGGCCCTCCTTGACCAGGCTAATTACCATTCTTGGGATTAACTCTATCTCCTTTTCCCGCAACCTGCAGGAGATGCCAAGGAACTTGCCAACATCCTGAAATACCACATTGGTGATGAAATCCTGGTTAGCGGAGGCATCGGGGCCCTGGTGCGGCTA... | TGCTGGGGCAGATTTGTGGTCATGAACATGTGCTTTGTGTCCTCTGACCATTAGACAGATTGTGGGTCACAACGTTGAGTATACAGTGGGAGCTTAATAAGTGCTTATTCCCTGGGCAGGGAGTTCTTCATTTCAGGGGTGACCACTTACATCTTCTCCTCTGGGCCCTCCTTGACCAGGCTAATTACCATTCTTGGGATTAACTCTATCTCCTTTTCCCGCAACCTGCAGGAGATGCCAAGGAACTTGCCAACATCCTGAAATACCACATTGGTGATGAAATCCTGGTTAGCGGAGGCATCGGGGCCCTGGTGCGGCTA... |
Task1_train_9502 | With a mutation on Chromosome 5 in gene KLHL3 (kelch like family member 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | GGCAGGCATTGTGCTTAGCTCTTCACAAGTATTACTGCATTTCATTCTCACAGCACCCTAAAAGGCTTAGTCTAATTTTATTCCCATTTTACAAATAAGACAACAGGGGTTCAGTATGATAGAATACCTGGCCCGGAGACCCAGGGCTAGTGGCAGAGCTGGGATTCAAATTCATATCTGACTCCAATATCCATCTGTAGAAGAAGCAGCAGCTATTCAACCCCCACTCCCACTACCACCAATACAGGACTATATGCGTGAGTTCACAAGGTTCATACAACTTTGCATCCTTTTTTAACCTAACAGGCTATTACAAATGT... | GGCAGGCATTGTGCTTAGCTCTTCACAAGTATTACTGCATTTCATTCTCACAGCACCCTAAAAGGCTTAGTCTAATTTTATTCCCATTTTACAAATAAGACAACAGGGGTTCAGTATGATAGAATACCTGGCCCGGAGACCCAGGGCTAGTGGCAGAGCTGGGATTCAAATTCATATCTGACTCCAATATCCATCTGTAGAAGAAGCAGCAGCTATTCAACCCCCACTCCCACTACCACCAATACAGGACTATATGCGTGAGTTCACAAGGTTCATACAACTTTGCATCCTTTTTTAACCTAACAGGCTATTACAAATGT... |
Task1_train_9503 | The variant affects gene KLHL3 (kelch like family member 3), which is on Chromosome 5. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | CACCCTAAAAGGCTTAGTCTAATTTTATTCCCATTTTACAAATAAGACAACAGGGGTTCAGTATGATAGAATACCTGGCCCGGAGACCCAGGGCTAGTGGCAGAGCTGGGATTCAAATTCATATCTGACTCCAATATCCATCTGTAGAAGAAGCAGCAGCTATTCAACCCCCACTCCCACTACCACCAATACAGGACTATATGCGTGAGTTCACAAGGTTCATACAACTTTGCATCCTTTTTTAACCTAACAGGCTATTACAAATGTTTTCTCATAACATTAAAAATCCATAAACTATATAAATATCCCATAGATTATTA... | CACCCTAAAAGGCTTAGTCTAATTTTATTCCCATTTTACAAATAAGACAACAGGGGTTCAGTATGATAGAATACCTGGCCCGGAGACCCAGGGCTAGTGGCAGAGCTGGGATTCAAATTCATATCTGACTCCAATATCCATCTGTAGAAGAAGCAGCAGCTATTCAACCCCCACTCCCACTACCACCAATACAGGACTATATGCGTGAGTTCACAAGGTTCATACAACTTTGCATCCTTTTTTAACCTAACAGGCTATTACAAATGTTTTCTCATAACATTAAAAATCCATAAACTATATAAATATCCCATAGATTATTA... |
Task1_train_9504 | A mutation found in KLHL3 (kelch like family member 3) on Chromosome 5 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Pseudohypoaldosteronism type 2D | GAGCTAGGGAATAAGACAATTCAGGGGACTTCATGCATGCTACTCCTTCTCTGCTGCTAAGTTTTTCCCTGATAAGCCCTATGTTATATTCACACTGTGTGATGCTGATGGTTATGTCTCTAATCCCTTTACAAGACTGGGTCTACATTCACACACAACTCCCAGGGATGCAGAACAGCTCCTACTCTGATCTCAAAGGGAGATGGATTTTGGGCAAGGTCTCATACAGCAGGGTCTAAGGCATAGGAAAATGTAATGAATTATTGCTCATTAAGACTTTCAAAGGCCACAGTCCAATATGTTGTGTATTTTTTCAAAAT... | GAGCTAGGGAATAAGACAATTCAGGGGACTTCATGCATGCTACTCCTTCTCTGCTGCTAAGTTTTTCCCTGATAAGCCCTATGTTATATTCACACTGTGTGATGCTGATGGTTATGTCTCTAATCCCTTTACAAGACTGGGTCTACATTCACACACAACTCCCAGGGATGCAGAACAGCTCCTACTCTGATCTCAAAGGGAGATGGATTTTGGGCAAGGTCTCATACAGCAGGGTCTAAGGCATAGGAAAATGTAATGAATTATTGCTCATTAAGACTTTCAAAGGCCACAGTCCAATATGTTGTGTATTTTTTCAAAAT... |
Task1_train_9505 | The following genetic variant occurs in KLHL3 (kelch like family member 3) on Chromosome 5. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Pseudohypoaldosteronism type 2D | TAGGGAATAAGACAATTCAGGGGACTTCATGCATGCTACTCCTTCTCTGCTGCTAAGTTTTTCCCTGATAAGCCCTATGTTATATTCACACTGTGTGATGCTGATGGTTATGTCTCTAATCCCTTTACAAGACTGGGTCTACATTCACACACAACTCCCAGGGATGCAGAACAGCTCCTACTCTGATCTCAAAGGGAGATGGATTTTGGGCAAGGTCTCATACAGCAGGGTCTAAGGCATAGGAAAATGTAATGAATTATTGCTCATTAAGACTTTCAAAGGCCACAGTCCAATATGTTGTGTATTTTTTCAAAATTAGA... | TAGGGAATAAGACAATTCAGGGGACTTCATGCATGCTACTCCTTCTCTGCTGCTAAGTTTTTCCCTGATAAGCCCTATGTTATATTCACACTGTGTGATGCTGATGGTTATGTCTCTAATCCCTTTACAAGACTGGGTCTACATTCACACACAACTCCCAGGGATGCAGAACAGCTCCTACTCTGATCTCAAAGGGAGATGGATTTTGGGCAAGGTCTCATACAGCAGGGTCTAAGGCATAGGAAAATGTAATGAATTATTGCTCATTAAGACTTTCAAAGGCCACAGTCCAATATGTTGTGTATTTTTTCAAAATTAGA... |
Task1_train_9506 | The gene KLHL3 (kelch like family member 3) is located on Chromosome 5, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Pseudohypoaldosteronism type 2A | TATTCACACTGTGTGATGCTGATGGTTATGTCTCTAATCCCTTTACAAGACTGGGTCTACATTCACACACAACTCCCAGGGATGCAGAACAGCTCCTACTCTGATCTCAAAGGGAGATGGATTTTGGGCAAGGTCTCATACAGCAGGGTCTAAGGCATAGGAAAATGTAATGAATTATTGCTCATTAAGACTTTCAAAGGCCACAGTCCAATATGTTGTGTATTTTTTCAAAATTAGATTAAGGGATTGGTGATACTCTAAAAAGTAGTAATTATCAGTGTTGCTGAAGGTACTCTCAAATACTGGTGAGACGAAAAAAT... | TATTCACACTGTGTGATGCTGATGGTTATGTCTCTAATCCCTTTACAAGACTGGGTCTACATTCACACACAACTCCCAGGGATGCAGAACAGCTCCTACTCTGATCTCAAAGGGAGATGGATTTTGGGCAAGGTCTCATACAGCAGGGTCTAAGGCATAGGAAAATGTAATGAATTATTGCTCATTAAGACTTTCAAAGGCCACAGTCCAATATGTTGTGTATTTTTTCAAAATTAGATTAAGGGATTGGTGATACTCTAAAAAGTAGTAATTATCAGTGTTGCTGAAGGTACTCTCAAATACTGGTGAGACGAAAAAAT... |
Task1_train_9507 | With a mutation on Chromosome 5 in gene KLHL3 (kelch like family member 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Pseudohypoaldosteronism type 2A | ATGGTTATGTCTCTAATCCCTTTACAAGACTGGGTCTACATTCACACACAACTCCCAGGGATGCAGAACAGCTCCTACTCTGATCTCAAAGGGAGATGGATTTTGGGCAAGGTCTCATACAGCAGGGTCTAAGGCATAGGAAAATGTAATGAATTATTGCTCATTAAGACTTTCAAAGGCCACAGTCCAATATGTTGTGTATTTTTTCAAAATTAGATTAAGGGATTGGTGATACTCTAAAAAGTAGTAATTATCAGTGTTGCTGAAGGTACTCTCAAATACTGGTGAGACGAAAAAATGGACACCCTCCTGGATGGCGT... | ATGGTTATGTCTCTAATCCCTTTACAAGACTGGGTCTACATTCACACACAACTCCCAGGGATGCAGAACAGCTCCTACTCTGATCTCAAAGGGAGATGGATTTTGGGCAAGGTCTCATACAGCAGGGTCTAAGGCATAGGAAAATGTAATGAATTATTGCTCATTAAGACTTTCAAAGGCCACAGTCCAATATGTTGTGTATTTTTTCAAAATTAGATTAAGGGATTGGTGATACTCTAAAAAGTAGTAATTATCAGTGTTGCTGAAGGTACTCTCAAATACTGGTGAGACGAAAAAATGGACACCCTCCTGGATGGCGT... |
Task1_train_9508 | Consider a variant on Chromosome 5 in gene KLHL3 (kelch like family member 3). Determine its clinical classification and disease relevance. | Pathogenic; Pseudohypoaldosteronism type 2D | GGTCCTCTCAATTGACCCATCTAAAAGAAAGAAACACATCGTCCTCAGTTCTGCACTCACCAAAGTCAAAATTTTTTAAAAACCTGACTAAGCAGCTCTTCTAGGGTCCAGGCTACTTGCATGGTATGTGCTGGTTCAGATGCGAAATATCCATAGCACACTCTCTGCTCTCTTAGGAGCTTCTGCCTACACTCCAATCCACAGAGTCTTTTCCTAAATAGGTATTCTTCGAGGCAGCCAGTAGCAAATTATTGTGATTTCCTCCATTTTTTTGTTCAGTGTCATTCAAACTGTATAGCCATGGTAATGAGATGATGAGA... | GGTCCTCTCAATTGACCCATCTAAAAGAAAGAAACACATCGTCCTCAGTTCTGCACTCACCAAAGTCAAAATTTTTTAAAAACCTGACTAAGCAGCTCTTCTAGGGTCCAGGCTACTTGCATGGTATGTGCTGGTTCAGATGCGAAATATCCATAGCACACTCTCTGCTCTCTTAGGAGCTTCTGCCTACACTCCAATCCACAGAGTCTTTTCCTAAATAGGTATTCTTCGAGGCAGCCAGTAGCAAATTATTGTGATTTCCTCCATTTTTTTGTTCAGTGTCATTCAAACTGTATAGCCATGGTAATGAGATGATGAGA... |
Task1_train_9509 | Here is a variant affecting KLHL3 (kelch like family member 3) on Chromosome 5. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not specified | CTCAATTGACCCATCTAAAAGAAAGAAACACATCGTCCTCAGTTCTGCACTCACCAAAGTCAAAATTTTTTAAAAACCTGACTAAGCAGCTCTTCTAGGGTCCAGGCTACTTGCATGGTATGTGCTGGTTCAGATGCGAAATATCCATAGCACACTCTCTGCTCTCTTAGGAGCTTCTGCCTACACTCCAATCCACAGAGTCTTTTCCTAAATAGGTATTCTTCGAGGCAGCCAGTAGCAAATTATTGTGATTTCCTCCATTTTTTTGTTCAGTGTCATTCAAACTGTATAGCCATGGTAATGAGATGATGAGAGGGAGG... | CTCAATTGACCCATCTAAAAGAAAGAAACACATCGTCCTCAGTTCTGCACTCACCAAAGTCAAAATTTTTTAAAAACCTGACTAAGCAGCTCTTCTAGGGTCCAGGCTACTTGCATGGTATGTGCTGGTTCAGATGCGAAATATCCATAGCACACTCTCTGCTCTCTTAGGAGCTTCTGCCTACACTCCAATCCACAGAGTCTTTTCCTAAATAGGTATTCTTCGAGGCAGCCAGTAGCAAATTATTGTGATTTCCTCCATTTTTTTGTTCAGTGTCATTCAAACTGTATAGCCATGGTAATGAGATGATGAGAGGGAGG... |
Task1_train_9510 | The gene KLHL3 (kelch like family member 3), on Chromosome 5, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Pseudohypoaldosteronism type 2D | ATCTAAAAGAAAGAAACACATCGTCCTCAGTTCTGCACTCACCAAAGTCAAAATTTTTTAAAAACCTGACTAAGCAGCTCTTCTAGGGTCCAGGCTACTTGCATGGTATGTGCTGGTTCAGATGCGAAATATCCATAGCACACTCTCTGCTCTCTTAGGAGCTTCTGCCTACACTCCAATCCACAGAGTCTTTTCCTAAATAGGTATTCTTCGAGGCAGCCAGTAGCAAATTATTGTGATTTCCTCCATTTTTTTGTTCAGTGTCATTCAAACTGTATAGCCATGGTAATGAGATGATGAGAGGGAGGAGAGGAAGCCAG... | ATCTAAAAGAAAGAAACACATCGTCCTCAGTTCTGCACTCACCAAAGTCAAAATTTTTTAAAAACCTGACTAAGCAGCTCTTCTAGGGTCCAGGCTACTTGCATGGTATGTGCTGGTTCAGATGCGAAATATCCATAGCACACTCTCTGCTCTCTTAGGAGCTTCTGCCTACACTCCAATCCACAGAGTCTTTTCCTAAATAGGTATTCTTCGAGGCAGCCAGTAGCAAATTATTGTGATTTCCTCCATTTTTTTGTTCAGTGTCATTCAAACTGTATAGCCATGGTAATGAGATGATGAGAGGGAGGAGAGGAAGCCAG... |
Task1_train_9511 | Gene KLHL3 (kelch like family member 3) on Chromosome 5 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Pseudohypoaldosteronism type 2D | TAAAAGAAAGAAACACATCGTCCTCAGTTCTGCACTCACCAAAGTCAAAATTTTTTAAAAACCTGACTAAGCAGCTCTTCTAGGGTCCAGGCTACTTGCATGGTATGTGCTGGTTCAGATGCGAAATATCCATAGCACACTCTCTGCTCTCTTAGGAGCTTCTGCCTACACTCCAATCCACAGAGTCTTTTCCTAAATAGGTATTCTTCGAGGCAGCCAGTAGCAAATTATTGTGATTTCCTCCATTTTTTTGTTCAGTGTCATTCAAACTGTATAGCCATGGTAATGAGATGATGAGAGGGAGGAGAGGAAGCCAGACA... | TAAAAGAAAGAAACACATCGTCCTCAGTTCTGCACTCACCAAAGTCAAAATTTTTTAAAAACCTGACTAAGCAGCTCTTCTAGGGTCCAGGCTACTTGCATGGTATGTGCTGGTTCAGATGCGAAATATCCATAGCACACTCTCTGCTCTCTTAGGAGCTTCTGCCTACACTCCAATCCACAGAGTCTTTTCCTAAATAGGTATTCTTCGAGGCAGCCAGTAGCAAATTATTGTGATTTCCTCCATTTTTTTGTTCAGTGTCATTCAAACTGTATAGCCATGGTAATGAGATGATGAGAGGGAGGAGAGGAAGCCAGACA... |
Task1_train_9512 | The gene KLHL3 (kelch like family member 3) is located on Chromosome 5, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Pseudohypoaldosteronism type 2A | AATTTTTTAAAAACCTGACTAAGCAGCTCTTCTAGGGTCCAGGCTACTTGCATGGTATGTGCTGGTTCAGATGCGAAATATCCATAGCACACTCTCTGCTCTCTTAGGAGCTTCTGCCTACACTCCAATCCACAGAGTCTTTTCCTAAATAGGTATTCTTCGAGGCAGCCAGTAGCAAATTATTGTGATTTCCTCCATTTTTTTGTTCAGTGTCATTCAAACTGTATAGCCATGGTAATGAGATGATGAGAGGGAGGAGAGGAAGCCAGACAGTGTGGAGAGCTGTCTCTTCAAGGCCACAGTGAAGAAGACAGAGTCCA... | AATTTTTTAAAAACCTGACTAAGCAGCTCTTCTAGGGTCCAGGCTACTTGCATGGTATGTGCTGGTTCAGATGCGAAATATCCATAGCACACTCTCTGCTCTCTTAGGAGCTTCTGCCTACACTCCAATCCACAGAGTCTTTTCCTAAATAGGTATTCTTCGAGGCAGCCAGTAGCAAATTATTGTGATTTCCTCCATTTTTTTGTTCAGTGTCATTCAAACTGTATAGCCATGGTAATGAGATGATGAGAGGGAGGAGAGGAAGCCAGACAGTGTGGAGAGCTGTCTCTTCAAGGCCACAGTGAAGAAGACAGAGTCCA... |
Task1_train_9513 | Mutation context: Chromosome 5, Gene KLHL3 (kelch like family member 3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Pseudohypoaldosteronism type 2D | AATTTTTTAAAAACCTGACTAAGCAGCTCTTCTAGGGTCCAGGCTACTTGCATGGTATGTGCTGGTTCAGATGCGAAATATCCATAGCACACTCTCTGCTCTCTTAGGAGCTTCTGCCTACACTCCAATCCACAGAGTCTTTTCCTAAATAGGTATTCTTCGAGGCAGCCAGTAGCAAATTATTGTGATTTCCTCCATTTTTTTGTTCAGTGTCATTCAAACTGTATAGCCATGGTAATGAGATGATGAGAGGGAGGAGAGGAAGCCAGACAGTGTGGAGAGCTGTCTCTTCAAGGCCACAGTGAAGAAGACAGAGTCCA... | AATTTTTTAAAAACCTGACTAAGCAGCTCTTCTAGGGTCCAGGCTACTTGCATGGTATGTGCTGGTTCAGATGCGAAATATCCATAGCACACTCTCTGCTCTCTTAGGAGCTTCTGCCTACACTCCAATCCACAGAGTCTTTTCCTAAATAGGTATTCTTCGAGGCAGCCAGTAGCAAATTATTGTGATTTCCTCCATTTTTTTGTTCAGTGTCATTCAAACTGTATAGCCATGGTAATGAGATGATGAGAGGGAGGAGAGGAAGCCAGACAGTGTGGAGAGCTGTCTCTTCAAGGCCACAGTGAAGAAGACAGAGTCCA... |
Task1_train_9514 | A variant on Chromosome 5 in gene KLHL3 (kelch like family member 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Pseudohypoaldosteronism type 2D | CTCTCACTCTACTACATTATCCTCCTGGGTTATATGCTGAATATGGATTCCCTACTCCCTTCCCTTCCCCAACTTCTAGCAGAGCTATTGACACAGGGCCAAACCACAGGCCGGCATTTCCCCTCTAGGCTCCTTCTACTCCCCCAGCCCAGCTCCAACATTTAGCAGCCTTGGGCCAGGAGCTCCACCACCTCTCTGAGTCTCAACTTTCCTCATCCGCTAAATCAGGATAATAGTACCTAACCCAGAGGAGTGATCTCAGGAAAAAAAACACGGTAGAGGAAGCACCAAGCATGATGCTGGACCCAGGACAAGGCCCG... | CTCTCACTCTACTACATTATCCTCCTGGGTTATATGCTGAATATGGATTCCCTACTCCCTTCCCTTCCCCAACTTCTAGCAGAGCTATTGACACAGGGCCAAACCACAGGCCGGCATTTCCCCTCTAGGCTCCTTCTACTCCCCCAGCCCAGCTCCAACATTTAGCAGCCTTGGGCCAGGAGCTCCACCACCTCTCTGAGTCTCAACTTTCCTCATCCGCTAAATCAGGATAATAGTACCTAACCCAGAGGAGTGATCTCAGGAAAAAAAACACGGTAGAGGAAGCACCAAGCATGATGCTGGACCCAGGACAAGGCCCG... |
Task1_train_9515 | This variant impacts the gene KLHL3 (kelch like family member 3) on Chromosome 5. Is the change likely to result in a pathogenic outcome? | Pathogenic; Pseudohypoaldosteronism type 2A | ATGGATTCCCTACTCCCTTCCCTTCCCCAACTTCTAGCAGAGCTATTGACACAGGGCCAAACCACAGGCCGGCATTTCCCCTCTAGGCTCCTTCTACTCCCCCAGCCCAGCTCCAACATTTAGCAGCCTTGGGCCAGGAGCTCCACCACCTCTCTGAGTCTCAACTTTCCTCATCCGCTAAATCAGGATAATAGTACCTAACCCAGAGGAGTGATCTCAGGAAAAAAAACACGGTAGAGGAAGCACCAAGCATGATGCTGGACCCAGGACAAGGCCCGTGGGCCAGGTAGGCCTGGCCACTGGCCACTGCCGCCTCCTTA... | ATGGATTCCCTACTCCCTTCCCTTCCCCAACTTCTAGCAGAGCTATTGACACAGGGCCAAACCACAGGCCGGCATTTCCCCTCTAGGCTCCTTCTACTCCCCCAGCCCAGCTCCAACATTTAGCAGCCTTGGGCCAGGAGCTCCACCACCTCTCTGAGTCTCAACTTTCCTCATCCGCTAAATCAGGATAATAGTACCTAACCCAGAGGAGTGATCTCAGGAAAAAAAACACGGTAGAGGAAGCACCAAGCATGATGCTGGACCCAGGACAAGGCCCGTGGGCCAGGTAGGCCTGGCCACTGGCCACTGCCGCCTCCTTA... |
Task1_train_9516 | Here is a variant affecting KLHL3 (kelch like family member 3) on Chromosome 5. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Pseudohypoaldosteronism type 2D | ATGAGACCTAAGCAGAAGTCTACGGGGATTTCAGAAACAGCCTTTGCTTTTCTAATATAGATACCATTCCCCTTTTTGATTCTTGCTACCTGGAACACAAATGTGTTGGCTGGAGGTATAACAGCCATCTCACGATCATGAGAAAAAGGCCAAGAGAATCTTAAAGAATGTGGCCTCAATGTCCATGAGTTACTGGACCAACTCAGCAACTGCTAACCTCTAGGCTTCTTGTTTCATGAGTAAAGCAAAATCCCTCGTGTTTTAAGGCAGAGTATAATCAGGTTCTCTACTTATAGCCAAAAGTAATTCCCAAAAGAAAC... | ATGAGACCTAAGCAGAAGTCTACGGGGATTTCAGAAACAGCCTTTGCTTTTCTAATATAGATACCATTCCCCTTTTTGATTCTTGCTACCTGGAACACAAATGTGTTGGCTGGAGGTATAACAGCCATCTCACGATCATGAGAAAAAGGCCAAGAGAATCTTAAAGAATGTGGCCTCAATGTCCATGAGTTACTGGACCAACTCAGCAACTGCTAACCTCTAGGCTTCTTGTTTCATGAGTAAAGCAAAATCCCTCGTGTTTTAAGGCAGAGTATAATCAGGTTCTCTACTTATAGCCAAAAGTAATTCCCAAAAGAAAC... |
Task1_train_9517 | The gene KLHL3 (kelch like family member 3), on Chromosome 5, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Pseudohypoaldosteronism type 2A | TTTGCTTTTCTAATATAGATACCATTCCCCTTTTTGATTCTTGCTACCTGGAACACAAATGTGTTGGCTGGAGGTATAACAGCCATCTCACGATCATGAGAAAAAGGCCAAGAGAATCTTAAAGAATGTGGCCTCAATGTCCATGAGTTACTGGACCAACTCAGCAACTGCTAACCTCTAGGCTTCTTGTTTCATGAGTAAAGCAAAATCCCTCGTGTTTTAAGGCAGAGTATAATCAGGTTCTCTACTTATAGCCAAAAGTAATTCCCAAAAGAAACAATGCACCACTACCCTTTCCTTCTCTTTGTTCCACTCACTAA... | TTTGCTTTTCTAATATAGATACCATTCCCCTTTTTGATTCTTGCTACCTGGAACACAAATGTGTTGGCTGGAGGTATAACAGCCATCTCACGATCATGAGAAAAAGGCCAAGAGAATCTTAAAGAATGTGGCCTCAATGTCCATGAGTTACTGGACCAACTCAGCAACTGCTAACCTCTAGGCTTCTTGTTTCATGAGTAAAGCAAAATCCCTCGTGTTTTAAGGCAGAGTATAATCAGGTTCTCTACTTATAGCCAAAAGTAATTCCCAAAAGAAACAATGCACCACTACCCTTTCCTTCTCTTTGTTCCACTCACTAA... |
Task1_train_9518 | A variant has been detected on Chromosome 5 in KLHL3 (kelch like family member 3). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Pseudohypoaldosteronism type 2D | TTTGCTTTTCTAATATAGATACCATTCCCCTTTTTGATTCTTGCTACCTGGAACACAAATGTGTTGGCTGGAGGTATAACAGCCATCTCACGATCATGAGAAAAAGGCCAAGAGAATCTTAAAGAATGTGGCCTCAATGTCCATGAGTTACTGGACCAACTCAGCAACTGCTAACCTCTAGGCTTCTTGTTTCATGAGTAAAGCAAAATCCCTCGTGTTTTAAGGCAGAGTATAATCAGGTTCTCTACTTATAGCCAAAAGTAATTCCCAAAAGAAACAATGCACCACTACCCTTTCCTTCTCTTTGTTCCACTCACTAA... | TTTGCTTTTCTAATATAGATACCATTCCCCTTTTTGATTCTTGCTACCTGGAACACAAATGTGTTGGCTGGAGGTATAACAGCCATCTCACGATCATGAGAAAAAGGCCAAGAGAATCTTAAAGAATGTGGCCTCAATGTCCATGAGTTACTGGACCAACTCAGCAACTGCTAACCTCTAGGCTTCTTGTTTCATGAGTAAAGCAAAATCCCTCGTGTTTTAAGGCAGAGTATAATCAGGTTCTCTACTTATAGCCAAAAGTAATTCCCAAAAGAAACAATGCACCACTACCCTTTCCTTCTCTTTGTTCCACTCACTAA... |
Task1_train_9519 | This variant affects gene KLHL3 (kelch like family member 3) located on Chromosome 5. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | CTTGCTACCTGGAACACAAATGTGTTGGCTGGAGGTATAACAGCCATCTCACGATCATGAGAAAAAGGCCAAGAGAATCTTAAAGAATGTGGCCTCAATGTCCATGAGTTACTGGACCAACTCAGCAACTGCTAACCTCTAGGCTTCTTGTTTCATGAGTAAAGCAAAATCCCTCGTGTTTTAAGGCAGAGTATAATCAGGTTCTCTACTTATAGCCAAAAGTAATTCCCAAAAGAAACAATGCACCACTACCCTTTCCTTCTCTTTGTTCCACTCACTAAAGGCAGCCTCCAGAGGGGCTAAAGACCCTGGAATTATAT... | CTTGCTACCTGGAACACAAATGTGTTGGCTGGAGGTATAACAGCCATCTCACGATCATGAGAAAAAGGCCAAGAGAATCTTAAAGAATGTGGCCTCAATGTCCATGAGTTACTGGACCAACTCAGCAACTGCTAACCTCTAGGCTTCTTGTTTCATGAGTAAAGCAAAATCCCTCGTGTTTTAAGGCAGAGTATAATCAGGTTCTCTACTTATAGCCAAAAGTAATTCCCAAAAGAAACAATGCACCACTACCCTTTCCTTCTCTTTGTTCCACTCACTAAAGGCAGCCTCCAGAGGGGCTAAAGACCCTGGAATTATAT... |
Task1_train_9520 | Given a variant located on Chromosome 5 and affecting KLHL3 (kelch like family member 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Pseudohypoaldosteronism type 2A | AGCCGAGATTGCACCACTGCACTCCAGCCCAGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAATCTGCAGAGAAAATGCTTGCCTTAGCACACCCATCCATCTAGAAAGTGACCTCTTCAAAGGCTTCACTGGGAGCCCTCCCCAGGAAGAGAAAGGGCTCCCTAAGTGAAGGTGGAAAGGCAGTGGAGAATATGCAGGGAAAAGAGAGCACAGGAACGGCAGAGAAGCAGAAGGGTCAAGGTTCAGAGCCAGAAAGAATCAGCAGGACTCAGAATTGAGGCTACTGGGTAATGTCCTTCACAAAAATCAT... | AGCCGAGATTGCACCACTGCACTCCAGCCCAGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAATCTGCAGAGAAAATGCTTGCCTTAGCACACCCATCCATCTAGAAAGTGACCTCTTCAAAGGCTTCACTGGGAGCCCTCCCCAGGAAGAGAAAGGGCTCCCTAAGTGAAGGTGGAAAGGCAGTGGAGAATATGCAGGGAAAAGAGAGCACAGGAACGGCAGAGAAGCAGAAGGGTCAAGGTTCAGAGCCAGAAAGAATCAGCAGGACTCAGAATTGAGGCTACTGGGTAATGTCCTTCACAAAAATCAT... |
Task1_train_9521 | This variant affects the gene KLHL3 (kelch like family member 3) found on Chromosome 5. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Pseudohypoaldosteronism type 2A | AGATGAACAGGAAAGCTGGCAGAACAGCACTGTGATTAAGCGTCATTTTGAATTTTGACTCCTCCACTTACCAGCCATGCAACTGAGGACAAATTACTTAACCTCTCAATGCCTCTGTCTCCTCAAAAATAAAATGAGGACAATAAGGTTTGTTATGAGGATCAAATGAGAAAAATTTAAAGCAGTTAGCACAGTGCTTGGTACATAGGAAGTGCTCAGTTGATGTTAGTTTTTATTATTGTAAATAATTATGAGCCAAAGTCAAGGTTCTGATCATTCATTTCATGAGAAACTAGAATTCATCATAGCCACAGAGCACA... | AGATGAACAGGAAAGCTGGCAGAACAGCACTGTGATTAAGCGTCATTTTGAATTTTGACTCCTCCACTTACCAGCCATGCAACTGAGGACAAATTACTTAACCTCTCAATGCCTCTGTCTCCTCAAAAATAAAATGAGGACAATAAGGTTTGTTATGAGGATCAAATGAGAAAAATTTAAAGCAGTTAGCACAGTGCTTGGTACATAGGAAGTGCTCAGTTGATGTTAGTTTTTATTATTGTAAATAATTATGAGCCAAAGTCAAGGTTCTGATCATTCATTTCATGAGAAACTAGAATTCATCATAGCCACAGAGCACA... |
Task1_train_9522 | A mutation on Chromosome 5 affecting KLHL3 (kelch like family member 3) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Pseudohypoaldosteronism type 2A | GCATTACACTGCTTTCTTCTCTTGATTCTCCCGTCCCTTCCATTCCTAGAATCTAAGAATGCCCCAGAAGCACTTTTTCTTCCAATTTGTAAAATCACTTTGGTTTTGCTATGACACTTCCGCTACTTCAGAGGCAAGTTCGTTAACAAAAAGTGGAGCCAGCATGACAATTCATTGCAATTCCAAACAGATTCCTCTCTCAACACTGAACTTTCCAAACTCCACACACAAAGAATAACTGGCAGAGCTATTTATTGAAGTTACAGCTAAATAACTATTACAGACAAGATGAACTATTTTAAAATAGAGATTGATGAAGG... | GCATTACACTGCTTTCTTCTCTTGATTCTCCCGTCCCTTCCATTCCTAGAATCTAAGAATGCCCCAGAAGCACTTTTTCTTCCAATTTGTAAAATCACTTTGGTTTTGCTATGACACTTCCGCTACTTCAGAGGCAAGTTCGTTAACAAAAAGTGGAGCCAGCATGACAATTCATTGCAATTCCAAACAGATTCCTCTCTCAACACTGAACTTTCCAAACTCCACACACAAAGAATAACTGGCAGAGCTATTTATTGAAGTTACAGCTAAATAACTATTACAGACAAGATGAACTATTTTAAAATAGAGATTGATGAAGG... |
Task1_train_9523 | This gene mutation involves KLHL3 (kelch like family member 3) on Chromosome 5. Is it associated with any clinical condition, or is it benign? | Pathogenic; Pseudohypoaldosteronism type 2A | ATTACACTGCTTTCTTCTCTTGATTCTCCCGTCCCTTCCATTCCTAGAATCTAAGAATGCCCCAGAAGCACTTTTTCTTCCAATTTGTAAAATCACTTTGGTTTTGCTATGACACTTCCGCTACTTCAGAGGCAAGTTCGTTAACAAAAAGTGGAGCCAGCATGACAATTCATTGCAATTCCAAACAGATTCCTCTCTCAACACTGAACTTTCCAAACTCCACACACAAAGAATAACTGGCAGAGCTATTTATTGAAGTTACAGCTAAATAACTATTACAGACAAGATGAACTATTTTAAAATAGAGATTGATGAAGGAA... | ATTACACTGCTTTCTTCTCTTGATTCTCCCGTCCCTTCCATTCCTAGAATCTAAGAATGCCCCAGAAGCACTTTTTCTTCCAATTTGTAAAATCACTTTGGTTTTGCTATGACACTTCCGCTACTTCAGAGGCAAGTTCGTTAACAAAAAGTGGAGCCAGCATGACAATTCATTGCAATTCCAAACAGATTCCTCTCTCAACACTGAACTTTCCAAACTCCACACACAAAGAATAACTGGCAGAGCTATTTATTGAAGTTACAGCTAAATAACTATTACAGACAAGATGAACTATTTTAAAATAGAGATTGATGAAGGAA... |
Task1_train_9524 | A sequence alteration has been identified in MYOT, PKD2L2-DT (myotilin| PKD2L2 divergent transcript) on Chromosome 5. Is it disease-inducing or harmless? | Pathogenic; Myofibrillar myopathy 3 | TAAACCGATAACTACAAAACTACTTGCCTTGAAATAGACTTTTTTTTTAGATCTACTCAAGGCCCTCCTTCAGGATGTTTTTCCCCAACAATTTAAATGCCTAAAGTAGTTCATTTCTAAAATGCATTCTAGTTTAATGTATTTGTGTTCATAAACTTGAAATTAAGGAATATTTAACTTTTTAAGTATTCTTTCTCAATAGCGTCTTTCTCTTGGCTGTTTAGTTGCATTTCTGTTTTTTCCTAAAATTGCTAGTTTTAATTTAACTCTAAACTACATAGGCAACTTTGAAATACTATTTTTTGAAGGTATCCTATTAT... | TAAACCGATAACTACAAAACTACTTGCCTTGAAATAGACTTTTTTTTTAGATCTACTCAAGGCCCTCCTTCAGGATGTTTTTCCCCAACAATTTAAATGCCTAAAGTAGTTCATTTCTAAAATGCATTCTAGTTTAATGTATTTGTGTTCATAAACTTGAAATTAAGGAATATTTAACTTTTTAAGTATTCTTTCTCAATAGCGTCTTTCTCTTGGCTGTTTAGTTGCATTTCTGTTTTTTCCTAAAATTGCTAGTTTTAATTTAACTCTAAACTACATAGGCAACTTTGAAATACTATTTTTTGAAGGTATCCTATTAT... |
Task1_train_9525 | An alteration has been detected in MYOT, PKD2L2-DT (myotilin| PKD2L2 divergent transcript) on Chromosome 5. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Myofibrillar myopathy 3 | AACTACAAAACTACTTGCCTTGAAATAGACTTTTTTTTTAGATCTACTCAAGGCCCTCCTTCAGGATGTTTTTCCCCAACAATTTAAATGCCTAAAGTAGTTCATTTCTAAAATGCATTCTAGTTTAATGTATTTGTGTTCATAAACTTGAAATTAAGGAATATTTAACTTTTTAAGTATTCTTTCTCAATAGCGTCTTTCTCTTGGCTGTTTAGTTGCATTTCTGTTTTTTCCTAAAATTGCTAGTTTTAATTTAACTCTAAACTACATAGGCAACTTTGAAATACTATTTTTTGAAGGTATCCTATTATTTAGGATGA... | AACTACAAAACTACTTGCCTTGAAATAGACTTTTTTTTTAGATCTACTCAAGGCCCTCCTTCAGGATGTTTTTCCCCAACAATTTAAATGCCTAAAGTAGTTCATTTCTAAAATGCATTCTAGTTTAATGTATTTGTGTTCATAAACTTGAAATTAAGGAATATTTAACTTTTTAAGTATTCTTTCTCAATAGCGTCTTTCTCTTGGCTGTTTAGTTGCATTTCTGTTTTTTCCTAAAATTGCTAGTTTTAATTTAACTCTAAACTACATAGGCAACTTTGAAATACTATTTTTTGAAGGTATCCTATTATTTAGGATGA... |
Task1_train_9526 | This gene mutation involves MYOT, PKD2L2-DT (myotilin| PKD2L2 divergent transcript) on Chromosome 5. Is it associated with any clinical condition, or is it benign? | Pathogenic; Myofibrillar myopathy 3 | TTCTAAAATGCATTCTAGTTTAATGTATTTGTGTTCATAAACTTGAAATTAAGGAATATTTAACTTTTTAAGTATTCTTTCTCAATAGCGTCTTTCTCTTGGCTGTTTAGTTGCATTTCTGTTTTTTCCTAAAATTGCTAGTTTTAATTTAACTCTAAACTACATAGGCAACTTTGAAATACTATTTTTTGAAGGTATCCTATTATTTAGGATGAAACTCTTTGGTCTGGAAAAGTTTTATTAACATTTTATCCAAGACAGTAACTAAAATAATTAGAAGACTTCGTTTCAATGATGACAAACAATTTGGTTAATTTTTC... | TTCTAAAATGCATTCTAGTTTAATGTATTTGTGTTCATAAACTTGAAATTAAGGAATATTTAACTTTTTAAGTATTCTTTCTCAATAGCGTCTTTCTCTTGGCTGTTTAGTTGCATTTCTGTTTTTTCCTAAAATTGCTAGTTTTAATTTAACTCTAAACTACATAGGCAACTTTGAAATACTATTTTTTGAAGGTATCCTATTATTTAGGATGAAACTCTTTGGTCTGGAAAAGTTTTATTAACATTTTATCCAAGACAGTAACTAAAATAATTAGAAGACTTCGTTTCAATGATGACAAACAATTTGGTTAATTTTTC... |
Task1_train_9527 | A genetic alteration is present in KIF20A (kinesin family member 20A) on Chromosome 5. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | AGTTCCATGAGAGCATGGTCCTTGATGATGTCTCTCACTATGGACTATCAGAGCTTCTCGGTTCCTAGGCCATAGTAGACACTCTAAATATCTGGGTTTTTTTTGTTTTTTGGGTTTTTTTGTTTTCGAGATGGAGTCTCGCTCTGTCCCCCAGGCTGGTGTGCAGTGGCACAATCTCTGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAGTTCTCCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGCACCTACCACCAAGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCA... | AGTTCCATGAGAGCATGGTCCTTGATGATGTCTCTCACTATGGACTATCAGAGCTTCTCGGTTCCTAGGCCATAGTAGACACTCTAAATATCTGGGTTTTTTTTGTTTTTTGGGTTTTTTTGTTTTCGAGATGGAGTCTCGCTCTGTCCCCCAGGCTGGTGTGCAGTGGCACAATCTCTGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAGTTCTCCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGCACCTACCACCAAGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCA... |
Task1_train_9528 | Consider this mutation in KDM3B (lysine demethylase 3B) on Chromosome 5. Is this a benign change or a disease-causing variant? | Pathogenic; Diets-Jongmans syndrome | CGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGACTTAAAAAAAAAAAAAAAAGTCAAAAGAAAACAACACTTAGCAAACAGATAAAGTTCTTGAATGAAAGGTTTAGAGGCTGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCCGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCTCATCTCTACTAAAAAAATACAAAAATTAGGCCAGGTGCAGTGGCTCACACTTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGTAGATTAC... | CGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGACTTAAAAAAAAAAAAAAAAGTCAAAAGAAAACAACACTTAGCAAACAGATAAAGTTCTTGAATGAAAGGTTTAGAGGCTGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCCGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCTCATCTCTACTAAAAAAATACAAAAATTAGGCCAGGTGCAGTGGCTCACACTTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGTAGATTAC... |
Task1_train_9529 | The gene KDM3B (lysine demethylase 3B) on Chromosome 5 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Diets-Jongmans syndrome | CCTGAGCTCAGGCCTGTGTAAAGGCAGATCCGTTCTTGGAACAGACACTAAGCCAGGCTCTAAGGCTGGCAGCTCTGTGGACCGGAAAGTGCCTGCAGAGTCCATGCCCACCCTCACTCCAGCCTTCCCACGGAGCCTCCTAAATGCCCGTACCCCAGAGAATCATGAAAATCTATTTTTACAGCCCCCCAAATTGTCCCGAGAAGAGCCTTCTAATCCTTTCCTGGCATTTGTGGAGAAAGTTGAACACAGCCCTTTCAGTAGTTTTGCATCTCAGGCATCAGGTAGCTCCTCTTCTGCTACCACTGTCACCTCCAAGG... | CCTGAGCTCAGGCCTGTGTAAAGGCAGATCCGTTCTTGGAACAGACACTAAGCCAGGCTCTAAGGCTGGCAGCTCTGTGGACCGGAAAGTGCCTGCAGAGTCCATGCCCACCCTCACTCCAGCCTTCCCACGGAGCCTCCTAAATGCCCGTACCCCAGAGAATCATGAAAATCTATTTTTACAGCCCCCCAAATTGTCCCGAGAAGAGCCTTCTAATCCTTTCCTGGCATTTGTGGAGAAAGTTGAACACAGCCCTTTCAGTAGTTTTGCATCTCAGGCATCAGGTAGCTCCTCTTCTGCTACCACTGTCACCTCCAAGG... |
Task1_train_9530 | The gene KDM3B (lysine demethylase 3B) is located on Chromosome 5, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Diets-Jongmans syndrome | TAAAAAAAAAAAAAAAATTGGAAAGTAGGTCTGTGTTTTTATCTGGTCACATTCAGCAGTATGGGTGCAGGTGTAGAACAGGTGAATGGAAAAACTAAGAGGAACTCTGGGACAGCTTTTTAAAGAATCTAGACCTACTAAATGTTATGTTAACAAGCTTTACTATTAGCAGAGAATGCATACTGTTTTGGTCGACTGGTGAAAATTCTTAGTCTGATTCCTGTTGTCTCATTTTACTTCTGTTTAGGTCCCAGGAGTTTAGGTGTGTGTTAGTTTGCGTTGCTCCTGCGATTTACCATGTATTTGATCATGTCTCAGGT... | TAAAAAAAAAAAAAAAATTGGAAAGTAGGTCTGTGTTTTTATCTGGTCACATTCAGCAGTATGGGTGCAGGTGTAGAACAGGTGAATGGAAAAACTAAGAGGAACTCTGGGACAGCTTTTTAAAGAATCTAGACCTACTAAATGTTATGTTAACAAGCTTTACTATTAGCAGAGAATGCATACTGTTTTGGTCGACTGGTGAAAATTCTTAGTCTGATTCCTGTTGTCTCATTTTACTTCTGTTTAGGTCCCAGGAGTTTAGGTGTGTGTTAGTTTGCGTTGCTCCTGCGATTTACCATGTATTTGATCATGTCTCAGGT... |
Task1_train_9531 | Given this context: Chromosome 5, gene KDM3B (lysine demethylase 3B) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Diets-Jongmans syndrome | ATGGATTATACAACTAGGAAAGAACAGTAGAGCTTCCTGGAGAAGAGGAGGCCCTCCTCAGGAAACCCTCCTATTCTGTCTCAGCCCTAGAGCTGGAAGTTTTTCCTAGATTGCTCTGATTGGGATATTTTTGTTTCCACAGCCAGTGCTGGTTTCGGGGGTACATAAAAAGCTCAAGTCTGAGCTCTGGAAGCCAGAAGCCTTTAGCCAGGAATTTGGAGACCAGGATGTAGACTTGGTGAACTGCAGGAACTGTGCTATAATTTCCGATGTGAAAGTTCGGGATTTCTGGGATGGTTTCGAGATCATATGCAGTAAGT... | ATGGATTATACAACTAGGAAAGAACAGTAGAGCTTCCTGGAGAAGAGGAGGCCCTCCTCAGGAAACCCTCCTATTCTGTCTCAGCCCTAGAGCTGGAAGTTTTTCCTAGATTGCTCTGATTGGGATATTTTTGTTTCCACAGCCAGTGCTGGTTTCGGGGGTACATAAAAAGCTCAAGTCTGAGCTCTGGAAGCCAGAAGCCTTTAGCCAGGAATTTGGAGACCAGGATGTAGACTTGGTGAACTGCAGGAACTGTGCTATAATTTCCGATGTGAAAGTTCGGGATTTCTGGGATGGTTTCGAGATCATATGCAGTAAGT... |
Task1_train_9532 | Chromosome 5 houses a mutation in gene KDM3B (lysine demethylase 3B). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Diets-Jongmans syndrome | GGGTCTTGAGAAAATATACAGACTCCATATACTTGTAGCGGAAGATAACCTGCAAGTTAAACATAAGATATGGCAACACAGTTTAAGCAAAAAATATGTTTTAAGGGGAAATTATACCTCCAAAAATGCTGAATCTCTAATAAGTAAGGAAGGTTTAATGTTGTTCTGTGTGTAGGGAGCTTAGACCAGTATCAATTTTCTGATTCTGCCTTACATTATTCCAGAGATGGAGAAGAGTAAAACTCAATTTATTTAAATTGGACATTTCATTTCACTCAGTGGTACTGAAATGGCTGACTACATTGAAAGTGTCATTTTGC... | GGGTCTTGAGAAAATATACAGACTCCATATACTTGTAGCGGAAGATAACCTGCAAGTTAAACATAAGATATGGCAACACAGTTTAAGCAAAAAATATGTTTTAAGGGGAAATTATACCTCCAAAAATGCTGAATCTCTAATAAGTAAGGAAGGTTTAATGTTGTTCTGTGTGTAGGGAGCTTAGACCAGTATCAATTTTCTGATTCTGCCTTACATTATTCCAGAGATGGAGAAGAGTAAAACTCAATTTATTTAAATTGGACATTTCATTTCACTCAGTGGTACTGAAATGGCTGACTACATTGAAAGTGTCATTTTGC... |
Task1_train_9533 | Assess the clinical impact of this variant on gene REEP2 (receptor accessory protein 2), found on Chromosome 5. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Hereditary spastic paraplegia 72 | ACCTAAAGGCGCTGCGTCCTTATTTGGGGCCCCCAGAGACATGGAGATGTGGCACCCAGGACTGGAGGGGGGAATATTAGGGGAGCGTGGCAGGCCTGGCTTCCCAGGGACCTCACCCACATTCTTTATTAATAACCTCTTTTATTTCTACCGTCCTTGCTCCTGCGCCCATCCTAGAGGCTGAGCAGCACGGCTTGATTTAAAAGGGGAGGCAGGCGCGTCCCCTCCCCCACCTAGCAGGTCTGGGCTGGAGGAGATCCTCAGACCCGGGCCCTGTCCCTCTGGGGGAGGTAACAGGGTGATGGAAGAGAGTGGAGCAA... | ACCTAAAGGCGCTGCGTCCTTATTTGGGGCCCCCAGAGACATGGAGATGTGGCACCCAGGACTGGAGGGGGGAATATTAGGGGAGCGTGGCAGGCCTGGCTTCCCAGGGACCTCACCCACATTCTTTATTAATAACCTCTTTTATTTCTACCGTCCTTGCTCCTGCGCCCATCCTAGAGGCTGAGCAGCACGGCTTGATTTAAAAGGGGAGGCAGGCGCGTCCCCTCCCCCACCTAGCAGGTCTGGGCTGGAGGAGATCCTCAGACCCGGGCCCTGTCCCTCTGGGGGAGGTAACAGGGTGATGGAAGAGAGTGGAGCAA... |
Task1_train_9534 | Given this context: Chromosome 5, gene REEP2 (receptor accessory protein 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Hereditary spastic paraplegia 72 | TGCGTCCTTATTTGGGGCCCCCAGAGACATGGAGATGTGGCACCCAGGACTGGAGGGGGGAATATTAGGGGAGCGTGGCAGGCCTGGCTTCCCAGGGACCTCACCCACATTCTTTATTAATAACCTCTTTTATTTCTACCGTCCTTGCTCCTGCGCCCATCCTAGAGGCTGAGCAGCACGGCTTGATTTAAAAGGGGAGGCAGGCGCGTCCCCTCCCCCACCTAGCAGGTCTGGGCTGGAGGAGATCCTCAGACCCGGGCCCTGTCCCTCTGGGGGAGGTAACAGGGTGATGGAAGAGAGTGGAGCAAGGCAGGGCCTCA... | TGCGTCCTTATTTGGGGCCCCCAGAGACATGGAGATGTGGCACCCAGGACTGGAGGGGGGAATATTAGGGGAGCGTGGCAGGCCTGGCTTCCCAGGGACCTCACCCACATTCTTTATTAATAACCTCTTTTATTTCTACCGTCCTTGCTCCTGCGCCCATCCTAGAGGCTGAGCAGCACGGCTTGATTTAAAAGGGGAGGCAGGCGCGTCCCCTCCCCCACCTAGCAGGTCTGGGCTGGAGGAGATCCTCAGACCCGGGCCCTGTCCCTCTGGGGGAGGTAACAGGGTGATGGAAGAGAGTGGAGCAAGGCAGGGCCTCA... |
Task1_train_9535 | Located on Chromosome 5, this mutation impacts REEP2 (receptor accessory protein 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Spastic paraplegia 72b, autosomal recessive | GATGGAGAGATGGGTTAAAAATTGAGGGTAAAGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTAGGCATGGCAGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAAGTCAGGAGATGGAGAGCATCCTGTCCAATACGGTGAAACCCCATCTCTACTAAAAAACAAAACACAAAAAATTAGCCG... | GATGGAGAGATGGGTTAAAAATTGAGGGTAAAGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTAGGCATGGCAGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAAGTCAGGAGATGGAGAGCATCCTGTCCAATACGGTGAAACCCCATCTCTACTAAAAAACAAAACACAAAAAATTAGCCG... |
Task1_train_9536 | This sequence variant lies in HSPA9 (heat shock protein family A (Hsp70) member 9) on Chromosome 5. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Even-plus syndrome | ATCTTCATCAACACAAATGCTCCAATCTGACTCGGAGAATACAATTTCCCATGAGCCTCAACCCAGGCATCACCATTGGAGGCACGGACAATTTTAAAGGGAACATTTTTACTGTAAGACACAAAAATTCTATTAGAGAAAACTACCTGAACAACTTACCATGACAAAATTACCACATACCATGAACATCCATCTTCCACCCCAAGAGACTCATTCATGGCCAACAAATGACAGTTTGTGAAATTCTTTAGAAAGCAATCACTAACATGGTTTATGAGAATTACAAGGCAAAATGAAATAAATAAATAAAAAGAAAGCAA... | ATCTTCATCAACACAAATGCTCCAATCTGACTCGGAGAATACAATTTCCCATGAGCCTCAACCCAGGCATCACCATTGGAGGCACGGACAATTTTAAAGGGAACATTTTTACTGTAAGACACAAAAATTCTATTAGAGAAAACTACCTGAACAACTTACCATGACAAAATTACCACATACCATGAACATCCATCTTCCACCCCAAGAGACTCATTCATGGCCAACAAATGACAGTTTGTGAAATTCTTTAGAAAGCAATCACTAACATGGTTTATGAGAATTACAAGGCAAAATGAAATAAATAAATAAAAAGAAAGCAA... |
Task1_train_9537 | Here is a variant affecting HSPA9 (heat shock protein family A (Hsp70) member 9) on Chromosome 5. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Even-plus syndrome | TCAACACAAATGCTCCAATCTGACTCGGAGAATACAATTTCCCATGAGCCTCAACCCAGGCATCACCATTGGAGGCACGGACAATTTTAAAGGGAACATTTTTACTGTAAGACACAAAAATTCTATTAGAGAAAACTACCTGAACAACTTACCATGACAAAATTACCACATACCATGAACATCCATCTTCCACCCCAAGAGACTCATTCATGGCCAACAAATGACAGTTTGTGAAATTCTTTAGAAAGCAATCACTAACATGGTTTATGAGAATTACAAGGCAAAATGAAATAAATAAATAAAAAGAAAGCAATCACTAA... | TCAACACAAATGCTCCAATCTGACTCGGAGAATACAATTTCCCATGAGCCTCAACCCAGGCATCACCATTGGAGGCACGGACAATTTTAAAGGGAACATTTTTACTGTAAGACACAAAAATTCTATTAGAGAAAACTACCTGAACAACTTACCATGACAAAATTACCACATACCATGAACATCCATCTTCCACCCCAAGAGACTCATTCATGGCCAACAAATGACAGTTTGTGAAATTCTTTAGAAAGCAATCACTAACATGGTTTATGAGAATTACAAGGCAAAATGAAATAAATAAATAAAAAGAAAGCAATCACTAA... |
Task1_train_9538 | This sequence variant lies in CTNNA1 (catenin alpha 1) on Chromosome 5. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Patterned macular dystrophy 2 | ATTAAAAAAAAAAAAAACAAACCAAAAAACAGAAATTGTGTTCCAGGTGACCAGCATCCTTTCATAAAGTAGGGATGCTATGAAATATAGAATAAAAAAAAATTACAATGGAGTGCATTTTGTTTTTAAGTTTTTCCTTGCCTTTACCTTTTCTTTCTTTTGCCACTTTACTTTCGCTTAGGTAGCTGATCCTTGTTGATATGCATGGCCGATTTAAGACTTTTTCATAAAGCAAGAAGGCAGTGTTAAGTCTAAAGACCATGGTGTTAGAACTCAGTTTTTACCATGGAGCTTTAAACATTAAATTATTTTATAACAAA... | ATTAAAAAAAAAAAAAACAAACCAAAAAACAGAAATTGTGTTCCAGGTGACCAGCATCCTTTCATAAAGTAGGGATGCTATGAAATATAGAATAAAAAAAAATTACAATGGAGTGCATTTTGTTTTTAAGTTTTTCCTTGCCTTTACCTTTTCTTTCTTTTGCCACTTTACTTTCGCTTAGGTAGCTGATCCTTGTTGATATGCATGGCCGATTTAAGACTTTTTCATAAAGCAAGAAGGCAGTGTTAAGTCTAAAGACCATGGTGTTAGAACTCAGTTTTTACCATGGAGCTTTAAACATTAAATTATTTTATAACAAA... |
Task1_train_9539 | Here’s a variant in CTNNA1 (catenin alpha 1) located on Chromosome 5. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Patterned macular dystrophy 2 | ATTGTGTTCCAGGTGACCAGCATCCTTTCATAAAGTAGGGATGCTATGAAATATAGAATAAAAAAAAATTACAATGGAGTGCATTTTGTTTTTAAGTTTTTCCTTGCCTTTACCTTTTCTTTCTTTTGCCACTTTACTTTCGCTTAGGTAGCTGATCCTTGTTGATATGCATGGCCGATTTAAGACTTTTTCATAAAGCAAGAAGGCAGTGTTAAGTCTAAAGACCATGGTGTTAGAACTCAGTTTTTACCATGGAGCTTTAAACATTAAATTATTTTATAACAAACTCTTATGGTGCATGTTAAAATTTACTAGCAATG... | ATTGTGTTCCAGGTGACCAGCATCCTTTCATAAAGTAGGGATGCTATGAAATATAGAATAAAAAAAAATTACAATGGAGTGCATTTTGTTTTTAAGTTTTTCCTTGCCTTTACCTTTTCTTTCTTTTGCCACTTTACTTTCGCTTAGGTAGCTGATCCTTGTTGATATGCATGGCCGATTTAAGACTTTTTCATAAAGCAAGAAGGCAGTGTTAAGTCTAAAGACCATGGTGTTAGAACTCAGTTTTTACCATGGAGCTTTAAACATTAAATTATTTTATAACAAACTCTTATGGTGCATGTTAAAATTTACTAGCAATG... |
Task1_train_9540 | This variant affects gene SIL1 (SIL1 nucleotide exchange factor) located on Chromosome 5. Evaluate its biological effect and specify any disease association. | Pathogenic; Marinesco-Sjögren syndrome | TGGGGGCAGAGGGGACACTGGGGACTGCAGTTAGGCCCCTACTAGTGGCACTCCTCCCATAGGGACGCTTTCCACACCCCGGGCCAGACCCTGGTGGTCACAGAGGCCTCCAGGGCCAGCCTGGTCCTGACACAGCCGAGCGCCCGGCCTGGCCTCCCCACAAGGCCCCACACTCTCGCCTGTCCACTGTTCCCACTGTCCAGCCTTGGTGCTCACCTCTGAATGCTGAAAGCCTAGAATAGATTCATCCCCAGCCCAGCCCCAAGTCCTCCTGTCTTCCAAGCCTCTGCTGAGGCAGCCCCTCTCCCCATCAAACCTCA... | TGGGGGCAGAGGGGACACTGGGGACTGCAGTTAGGCCCCTACTAGTGGCACTCCTCCCATAGGGACGCTTTCCACACCCCGGGCCAGACCCTGGTGGTCACAGAGGCCTCCAGGGCCAGCCTGGTCCTGACACAGCCGAGCGCCCGGCCTGGCCTCCCCACAAGGCCCCACACTCTCGCCTGTCCACTGTTCCCACTGTCCAGCCTTGGTGCTCACCTCTGAATGCTGAAAGCCTAGAATAGATTCATCCCCAGCCCAGCCCCAAGTCCTCCTGTCTTCCAAGCCTCTGCTGAGGCAGCCCCTCTCCCCATCAAACCTCA... |
Task1_train_9541 | The gene MATR3 (matrin 3) on Chromosome 5 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Amyotrophic lateral sclerosis type 21 | CAAAGAAACTTTCATCTGAAGAAGTCCACTTATTCTCGTCTTTATTAATCTTAAAGCTTAAGTAGTTTACATAGTGGATCTTGTCTAGAACTATTAATAGTTTCTTTGGTGTATTTTCTCAAATTCATCTTTCTTGGTGTGCAAAAACATCTTCCTGTAACTCCAGCCACCTCTTATAGCATTTCTGTGTCTTTTAAAACTTGATTATATCTATTTTTTAAAATCCAGTCTAAATCTTTCTTGCCTGCAACTTTTTTTATACTTCCTTTGCCACTGTATTTGTCCATTGTATCCTTGCTTTAATCTATCATTGGTGAAAT... | CAAAGAAACTTTCATCTGAAGAAGTCCACTTATTCTCGTCTTTATTAATCTTAAAGCTTAAGTAGTTTACATAGTGGATCTTGTCTAGAACTATTAATAGTTTCTTTGGTGTATTTTCTCAAATTCATCTTTCTTGGTGTGCAAAAACATCTTCCTGTAACTCCAGCCACCTCTTATAGCATTTCTGTGTCTTTTAAAACTTGATTATATCTATTTTTTAAAATCCAGTCTAAATCTTTCTTGCCTGCAACTTTTTTTATACTTCCTTTGCCACTGTATTTGTCCATTGTATCCTTGCTTTAATCTATCATTGGTGAAAT... |
Task1_train_9542 | A mutation on Chromosome 5 affecting MATR3 (matrin 3) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Amyotrophic lateral sclerosis type 21 | ATATCTATTTTTTAAAATCCAGTCTAAATCTTTCTTGCCTGCAACTTTTTTTATACTTCCTTTGCCACTGTATTTGTCCATTGTATCCTTGCTTTAATCTATCATTGGTGAAATTGATCCTGTAATAGACTTGTAACTACTGGATATTGTCTGGTTTTACTGTTAAAGTTTCACATATTAAGCTACCAGTGCTGAGTGTATTGGTGATCAAAAAATAGAAAATTTAAGCAATGCCTCATAGAATTCTGTACCAAACAACTTCAGATTTACCTCTGTATGTAGTTGTGATTATAAAATTGTTTCACTGAAGATGTTATGTA... | ATATCTATTTTTTAAAATCCAGTCTAAATCTTTCTTGCCTGCAACTTTTTTTATACTTCCTTTGCCACTGTATTTGTCCATTGTATCCTTGCTTTAATCTATCATTGGTGAAATTGATCCTGTAATAGACTTGTAACTACTGGATATTGTCTGGTTTTACTGTTAAAGTTTCACATATTAAGCTACCAGTGCTGAGTGTATTGGTGATCAAAAAATAGAAAATTTAAGCAATGCCTCATAGAATTCTGTACCAAACAACTTCAGATTTACCTCTGTATGTAGTTGTGATTATAAAATTGTTTCACTGAAGATGTTATGTA... |
Task1_train_9543 | The gene LOC126807526, MATR3 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:138657767-138658966| matrin 3) is located on Chromosome 5, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Amyotrophic lateral sclerosis type 21 | TTTGTTTTTCTTTTTTTGTTTTAAACACTTCTGTAATTCAGCATTGCAAGTTTGTGTTCTTCCAGACTTTTATTTTTCTTACACTATTTTAATATCTTAAGCTTATTACTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCCGGCTGTAGTGCAGTGGTGCAATCTCAGCTTACTGCAAGTTCTGCCTCCCCGGTTCATGGCATTCTCCTGCCTCAGCTTCCCCAGTAGCTGGGACCACAGGCACCCGCCACCACGCCTGGCTAATTTTTTTTTTTTTTTTTTTGTATTTTTACTAGAGACGGGT... | TTTGTTTTTCTTTTTTTGTTTTAAACACTTCTGTAATTCAGCATTGCAAGTTTGTGTTCTTCCAGACTTTTATTTTTCTTACACTATTTTAATATCTTAAGCTTATTACTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCCGGCTGTAGTGCAGTGGTGCAATCTCAGCTTACTGCAAGTTCTGCCTCCCCGGTTCATGGCATTCTCCTGCCTCAGCTTCCCCAGTAGCTGGGACCACAGGCACCCGCCACCACGCCTGGCTAATTTTTTTTTTTTTTTTTTTGTATTTTTACTAGAGACGGGT... |
Task1_train_9544 | A variant on Chromosome 5 in gene STING1 (stimulator of interferon response cGAMP interactor 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; STING-associated vasculopathy with onset in infancy | GGTAAATGACACGCAGCACCCTGCTGCCCTGTACCAAGATGAGGAGGGGTGCAGGGAGGCATGCATGTGCAGGCAGGTTTGGACATTAGGGACAGTAATTCCCATCTGTTATATCGGTCAGAGTCCAGCAGGAAAAAGACGACACACTCACATTGGGTAATCTGAGATGTGCTTTAAAAAAGGACCGTTGAGAAAGGGGTGGAGTATAAGGAAACCGCAAGTGAGAGGGAGTACTCTAGTGGGGTGGGGGTGCCGATACACAGCTAGGCTTAAGGGGCCAGGGAAGGAAGTGGTGCCAGAATCCTAGAGATAGTCATGAT... | GGTAAATGACACGCAGCACCCTGCTGCCCTGTACCAAGATGAGGAGGGGTGCAGGGAGGCATGCATGTGCAGGCAGGTTTGGACATTAGGGACAGTAATTCCCATCTGTTATATCGGTCAGAGTCCAGCAGGAAAAAGACGACACACTCACATTGGGTAATCTGAGATGTGCTTTAAAAAAGGACCGTTGAGAAAGGGGTGGAGTATAAGGAAACCGCAAGTGAGAGGGAGTACTCTAGTGGGGTGGGGGTGCCGATACACAGCTAGGCTTAAGGGGCCAGGGAAGGAAGTGGTGCCAGAATCCTAGAGATAGTCATGAT... |
Task1_train_9545 | This genomic variant is located on Chromosome 5, within the STING1 (stimulator of interferon response cGAMP interactor 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; STING-associated vasculopathy with onset in infancy | GAGGTGACATTTCCAGCATTCTCGTGTGCACAGAGGGAGGCCTCTAGCCCCAGATCAGTCTCCTAGCGGAAGCCCTAGGAGATAGCAATGAGATATGGAAGAGCTGCCGCTTTAGCCTGCAAGTCAGAAGAATAAAACACACAGGCTTAGGGCAGGCACAGTGGCTCACGCCTGTAATCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCATTTGAGGTCAGGAGTTTGAGACTAGCCTGGGCAACATGGTGAAACATTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCTAGCTA... | GAGGTGACATTTCCAGCATTCTCGTGTGCACAGAGGGAGGCCTCTAGCCCCAGATCAGTCTCCTAGCGGAAGCCCTAGGAGATAGCAATGAGATATGGAAGAGCTGCCGCTTTAGCCTGCAAGTCAGAAGAATAAAACACACAGGCTTAGGGCAGGCACAGTGGCTCACGCCTGTAATCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCATTTGAGGTCAGGAGTTTGAGACTAGCCTGGGCAACATGGTGAAACATTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCTAGCTA... |
Task1_train_9546 | The following genetic variant occurs in STING1 (stimulator of interferon response cGAMP interactor 1) on Chromosome 5. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; STING-associated vasculopathy with onset in infancy | GGTGACATTTCCAGCATTCTCGTGTGCACAGAGGGAGGCCTCTAGCCCCAGATCAGTCTCCTAGCGGAAGCCCTAGGAGATAGCAATGAGATATGGAAGAGCTGCCGCTTTAGCCTGCAAGTCAGAAGAATAAAACACACAGGCTTAGGGCAGGCACAGTGGCTCACGCCTGTAATCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCATTTGAGGTCAGGAGTTTGAGACTAGCCTGGGCAACATGGTGAAACATTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCTAGCTATT... | GGTGACATTTCCAGCATTCTCGTGTGCACAGAGGGAGGCCTCTAGCCCCAGATCAGTCTCCTAGCGGAAGCCCTAGGAGATAGCAATGAGATATGGAAGAGCTGCCGCTTTAGCCTGCAAGTCAGAAGAATAAAACACACAGGCTTAGGGCAGGCACAGTGGCTCACGCCTGTAATCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCATTTGAGGTCAGGAGTTTGAGACTAGCCTGGGCAACATGGTGAAACATTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCTAGCTATT... |
Task1_train_9547 | Consider this mutation in STING1 (stimulator of interferon response cGAMP interactor 1) on Chromosome 5. Is this a benign change or a disease-causing variant? | Pathogenic; STING-associated vasculopathy with onset in infancy | ACATTTCCAGCATTCTCGTGTGCACAGAGGGAGGCCTCTAGCCCCAGATCAGTCTCCTAGCGGAAGCCCTAGGAGATAGCAATGAGATATGGAAGAGCTGCCGCTTTAGCCTGCAAGTCAGAAGAATAAAACACACAGGCTTAGGGCAGGCACAGTGGCTCACGCCTGTAATCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCATTTGAGGTCAGGAGTTTGAGACTAGCCTGGGCAACATGGTGAAACATTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCTAGCTATTCAAG... | ACATTTCCAGCATTCTCGTGTGCACAGAGGGAGGCCTCTAGCCCCAGATCAGTCTCCTAGCGGAAGCCCTAGGAGATAGCAATGAGATATGGAAGAGCTGCCGCTTTAGCCTGCAAGTCAGAAGAATAAAACACACAGGCTTAGGGCAGGCACAGTGGCTCACGCCTGTAATCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCATTTGAGGTCAGGAGTTTGAGACTAGCCTGGGCAACATGGTGAAACATTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCTAGCTATTCAAG... |
Task1_train_9548 | With a mutation on Chromosome 5 in gene STING1 (stimulator of interferon response cGAMP interactor 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; STING-associated vasculopathy with onset in infancy | TGTGCACAGAGGGAGGCCTCTAGCCCCAGATCAGTCTCCTAGCGGAAGCCCTAGGAGATAGCAATGAGATATGGAAGAGCTGCCGCTTTAGCCTGCAAGTCAGAAGAATAAAACACACAGGCTTAGGGCAGGCACAGTGGCTCACGCCTGTAATCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCATTTGAGGTCAGGAGTTTGAGACTAGCCTGGGCAACATGGTGAAACATTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCTAGCTATTCAAGAGGCTCAGGCAGGAGAAT... | TGTGCACAGAGGGAGGCCTCTAGCCCCAGATCAGTCTCCTAGCGGAAGCCCTAGGAGATAGCAATGAGATATGGAAGAGCTGCCGCTTTAGCCTGCAAGTCAGAAGAATAAAACACACAGGCTTAGGGCAGGCACAGTGGCTCACGCCTGTAATCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCATTTGAGGTCAGGAGTTTGAGACTAGCCTGGGCAACATGGTGAAACATTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCTAGCTATTCAAGAGGCTCAGGCAGGAGAAT... |
Task1_train_9549 | The gene PURA (purine rich element binding protein A) on Chromosome 5 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | CAGGAATCAGCAAGGCTTATTCCCTAGCCTGCTCTTGGTTTCTTGATCGTTAGTCCACTCTTTTCTAGGAAGCTGGGCAATCATATTCCCAGTTGTCCCTCGGGCTAAGAGTGAGGGAGGCAAGTCTCCTTACTTTTGGGGGAAGCGGGAGATGCTCAATGGGAATAGAACCCACAAATGGAATAGGTATACTTTTCTCAGGATAGAGGCAACGATCTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCC... | CAGGAATCAGCAAGGCTTATTCCCTAGCCTGCTCTTGGTTTCTTGATCGTTAGTCCACTCTTTTCTAGGAAGCTGGGCAATCATATTCCCAGTTGTCCCTCGGGCTAAGAGTGAGGGAGGCAAGTCTCCTTACTTTTGGGGGAAGCGGGAGATGCTCAATGGGAATAGAACCCACAAATGGAATAGGTATACTTTTCTCAGGATAGAGGCAACGATCTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCC... |
Task1_train_9550 | This is a variant in PURA (purine rich element binding protein A), located on Chromosome 5. Is this mutation a likely cause of disease or not? | Pathogenic; PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | GGAATCAGCAAGGCTTATTCCCTAGCCTGCTCTTGGTTTCTTGATCGTTAGTCCACTCTTTTCTAGGAAGCTGGGCAATCATATTCCCAGTTGTCCCTCGGGCTAAGAGTGAGGGAGGCAAGTCTCCTTACTTTTGGGGGAAGCGGGAGATGCTCAATGGGAATAGAACCCACAAATGGAATAGGTATACTTTTCTCAGGATAGAGGCAACGATCTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCT... | GGAATCAGCAAGGCTTATTCCCTAGCCTGCTCTTGGTTTCTTGATCGTTAGTCCACTCTTTTCTAGGAAGCTGGGCAATCATATTCCCAGTTGTCCCTCGGGCTAAGAGTGAGGGAGGCAAGTCTCCTTACTTTTGGGGGAAGCGGGAGATGCTCAATGGGAATAGAACCCACAAATGGAATAGGTATACTTTTCTCAGGATAGAGGCAACGATCTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCT... |
Task1_train_9551 | Given this context: Chromosome 5, gene PURA (purine rich element binding protein A) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | GATCTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGAGAAATCAGGTATCTCTGAGCTCCTCTACTCCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAA... | GATCTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGAGAAATCAGGTATCTCTGAGCTCCTCTACTCCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAA... |
Task1_train_9552 | Assess the clinical impact of this variant on gene PURA (purine rich element binding protein A), found on Chromosome 5. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | CTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGAGAAATCAGGTATCTCTGAGCTCCTCTACTCCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTA... | CTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGAGAAATCAGGTATCTCTGAGCTCCTCTACTCCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTA... |
Task1_train_9553 | A mutation on Chromosome 5 affecting PURA (purine rich element binding protein A) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | TGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGAGAAATCAGGTATCTCTGAGCTCCTCTACTCCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCA... | TGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGAGAAATCAGGTATCTCTGAGCTCCTCTACTCCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCA... |
Task1_train_9554 | This variant impacts the gene PURA (purine rich element binding protein A) on Chromosome 5. Is the change likely to result in a pathogenic outcome? | Pathogenic; PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | GCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGAGAAATCAGGTATCTCTGAGCTCCTCTACTCCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATA... | GCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGAGAAATCAGGTATCTCTGAGCTCCTCTACTCCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATA... |
Task1_train_9555 | Here’s a variant in PURA (purine rich element binding protein A) located on Chromosome 5. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | AGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGAGAAATCAGGTATCTCTGAGCTCCTCTACTCCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTC... | AGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGAGAAATCAGGTATCTCTGAGCTCCTCTACTCCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTC... |
Task1_train_9556 | Mutation context: Chromosome 5, Gene PURA (purine rich element binding protein A). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | GGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGAGAAATCAGGTATCTCTGAGCTCCTCTACTCCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTT... | GGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGAGAAATCAGGTATCTCTGAGCTCCTCTACTCCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTT... |
Task1_train_9557 | An alteration has been detected in PURA (purine rich element binding protein A) on Chromosome 5. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Global developmental delay | CCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGT... | CCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGT... |
Task1_train_9558 | Here is a mutation in PURA (purine rich element binding protein A) on Chromosome 5. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Intellectual disability | CCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGT... | CCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGT... |
Task1_train_9559 | A variant on Chromosome 5 in gene PURA (purine rich element binding protein A) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Neonatal hypotonia | CCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGT... | CCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGT... |
Task1_train_9560 | Here’s a variant in PURA (purine rich element binding protein A) located on Chromosome 5. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Delayed speech and language development | CCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGT... | CCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGT... |
Task1_train_9561 | Gene PURA (purine rich element binding protein A), found on Chromosome 5, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | CCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGC... | CCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGC... |
Task1_train_9562 | This genomic variant is located on Chromosome 5, within the PURA (purine rich element binding protein A) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | GATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTT... | GATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTT... |
Task1_train_9563 | Gene PURA (purine rich element binding protein A), found on Chromosome 5, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Inborn genetic diseases | TATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCT... | TATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCT... |
Task1_train_9564 | Mutation context: Chromosome 5, Gene PURA (purine rich element binding protein A). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | CGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAG... | CGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAG... |
Task1_train_9565 | This genomic variant is located on Chromosome 5, within the PURA (purine rich element binding protein A) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | CACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGG... | CACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGG... |
Task1_train_9566 | A variant on Chromosome 5 in gene PURA (purine rich element binding protein A) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Inborn genetic diseases | AAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGACGG... | AAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGACGG... |
Task1_train_9567 | Given this context: Chromosome 5, gene NDUFA2, TMCO6 (NADH:ubiquinone oxidoreductase subunit A2| transmembrane and coiled-coil domains 6) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 13 | CTTCCACTCAGCACTATCCAGGCAGGAGGACCAAAAGGGACTCAGTGTGGTCTACTTACTCTGGGGCCCTAGAATCCCTGCCCCCCCGCCACCCTTCATGTTTGCTTCAGCAGCTGGTAGCTTTTGATGAGACAGAATAAAGTTTTATTTTTATATTAAGCTACTTTGCCTCAGTGGTTGCACAGTAAGGGGTAGAGGGTAGATGAGGACAAGAACACCCTGAGAAAGTATTTTACAGCACAAGCTTTATGAGGAATAGGAGAACACATTTTTTTCACATTATACTAAGTCCAGCAGAGCCCAGGCTCTGGGGCTGTTGC... | CTTCCACTCAGCACTATCCAGGCAGGAGGACCAAAAGGGACTCAGTGTGGTCTACTTACTCTGGGGCCCTAGAATCCCTGCCCCCCCGCCACCCTTCATGTTTGCTTCAGCAGCTGGTAGCTTTTGATGAGACAGAATAAAGTTTTATTTTTATATTAAGCTACTTTGCCTCAGTGGTTGCACAGTAAGGGGTAGAGGGTAGATGAGGACAAGAACACCCTGAGAAAGTATTTTACAGCACAAGCTTTATGAGGAATAGGAGAACACATTTTTTTCACATTATACTAAGTCCAGCAGAGCCCAGGCTCTGGGGCTGTTGC... |
Task1_train_9568 | Here’s a variant in NDUFA2, TMCO6 (NADH:ubiquinone oxidoreductase subunit A2| transmembrane and coiled-coil domains 6) located on Chromosome 5. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Cystic Leukoencephalopathy | GGGACTCAGTGTGGTCTACTTACTCTGGGGCCCTAGAATCCCTGCCCCCCCGCCACCCTTCATGTTTGCTTCAGCAGCTGGTAGCTTTTGATGAGACAGAATAAAGTTTTATTTTTATATTAAGCTACTTTGCCTCAGTGGTTGCACAGTAAGGGGTAGAGGGTAGATGAGGACAAGAACACCCTGAGAAAGTATTTTACAGCACAAGCTTTATGAGGAATAGGAGAACACATTTTTTTCACATTATACTAAGTCCAGCAGAGCCCAGGCTCTGGGGCTGTTGCTCTTAATCCTCAGTGGAGGCTTCAGGCTTTACCACT... | GGGACTCAGTGTGGTCTACTTACTCTGGGGCCCTAGAATCCCTGCCCCCCCGCCACCCTTCATGTTTGCTTCAGCAGCTGGTAGCTTTTGATGAGACAGAATAAAGTTTTATTTTTATATTAAGCTACTTTGCCTCAGTGGTTGCACAGTAAGGGGTAGAGGGTAGATGAGGACAAGAACACCCTGAGAAAGTATTTTACAGCACAAGCTTTATGAGGAATAGGAGAACACATTTTTTTCACATTATACTAAGTCCAGCAGAGCCCAGGCTCTGGGGCTGTTGCTCTTAATCCTCAGTGGAGGCTTCAGGCTTTACCACT... |
Task1_train_9569 | Given a variant located on Chromosome 5 and affecting HARS1 (histidyl-tRNA synthetase 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Autosomal dominant Charcot-Marie-Tooth disease type 2W | ATGACCCCATCCTTGAGTTCCTGCTCGCCGATGATAGCCACCAGTGGGATGCCTGCCTCCTCACAGTACTGTAACTGGTTCAGTAGCTTTGGGTTCTTCTTGTACAGCAGCTCAGCCTGCAGGGGACAAGAGCAGAAGATGAAGGCTGGCTTCTGCTGTCCTCAGGGACAGAGGGTGTCCAAGCTGGCACCCTGTTCTTAGCTCTACTTTTGAGAAGTAATGGCAGGATCCATTATGGGTGAGCTTTTATTCAGTTTGTGTCCAGCACACCTAAGTTTGCTGCCACCCTGGGGCTTGCCTCCCATACCTTGATCCCAGCA... | ATGACCCCATCCTTGAGTTCCTGCTCGCCGATGATAGCCACCAGTGGGATGCCTGCCTCCTCACAGTACTGTAACTGGTTCAGTAGCTTTGGGTTCTTCTTGTACAGCAGCTCAGCCTGCAGGGGACAAGAGCAGAAGATGAAGGCTGGCTTCTGCTGTCCTCAGGGACAGAGGGTGTCCAAGCTGGCACCCTGTTCTTAGCTCTACTTTTGAGAAGTAATGGCAGGATCCATTATGGGTGAGCTTTTATTCAGTTTGTGTCCAGCACACCTAAGTTTGCTGCCACCCTGGGGCTTGCCTCCCATACCTTGATCCCAGCA... |
Task1_train_9570 | This sequence change occurs on Chromosome 5, altering HARS1 (histidyl-tRNA synthetase 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Spastic ataxia | GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTT... | GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTT... |
Task1_train_9571 | Assess the clinical impact of this variant on gene HARS1 (histidyl-tRNA synthetase 1), found on Chromosome 5. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Intellectual disability | GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTT... | GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTT... |
Task1_train_9572 | This variant impacts the gene HARS1 (histidyl-tRNA synthetase 1) on Chromosome 5. Is the change likely to result in a pathogenic outcome? | Pathogenic; Choreoathetosis | GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTT... | GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTT... |
Task1_train_9573 | This variant impacts the gene HARS1 (histidyl-tRNA synthetase 1) on Chromosome 5. Is the change likely to result in a pathogenic outcome? | Pathogenic; Spastic ataxia | GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTT... | GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTT... |
Task1_train_9574 | This mutation is located in gene HARS1 (histidyl-tRNA synthetase 1) on Chromosome 5. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Peripheral neuropathy | GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTT... | GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTT... |
Task1_train_9575 | A genomic change on Chromosome 5 affects HARS1 (histidyl-tRNA synthetase 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Cerebellar atrophy | GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTT... | GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTT... |
Task1_train_9576 | Located on Chromosome 5, this mutation impacts HARS1 (histidyl-tRNA synthetase 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Dysmetria | GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTT... | GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTT... |
Task1_train_9577 | Given this variant in gene HARS1 (histidyl-tRNA synthetase 1) on Chromosome 5, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Tremor | GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTT... | GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTT... |
Task1_train_9578 | An alteration has been detected in HARS1 (histidyl-tRNA synthetase 1) on Chromosome 5. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Oculomotor apraxia | GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTT... | GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTT... |
Task1_train_9579 | This alteration occurs within gene HARS1 (histidyl-tRNA synthetase 1) located on Chromosome 5. Is it associated with a disease or is it a benign variant? | Pathogenic; Dysarthria | GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTT... | GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTT... |
Task1_train_9580 | A genomic change on Chromosome 5 affects HARS1 (histidyl-tRNA synthetase 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Nystagmus | GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTT... | GAAAAATGATCTCAACTGGGAAATGGGTGGTTTCCACCCTAGAGAAAAGGCATAGGACTGTGGGGAGGTTGCCAGAGCATTTCCCAGAAGATGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTT... |
Task1_train_9581 | A variant on Chromosome 5 in gene HARS1 (histidyl-tRNA synthetase 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Autosomal dominant Charcot-Marie-Tooth disease type 2W | TGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTTTCATGGCCTTAAGCAAATTATTTGATCTATAATGCTTCAGTGTTCTCATCTGGAAAATGCAATTAATAAAATTAGCTACTCTCACAGGGCT... | TGAAATGCAACCAGCCACTTAAGACCAGCAGCAACAAAGGAGGGCTTGAGGCTACAAGAGGCTTCCTTGGTGTTACTCTAGGTGCTAGAGAGTCACGGTAGCCATCTGAGGGATCCCAGGGCCTCAGACACATGCTTCCCATTTAGAGACAGTATTGCAGTGTGGTTAGTGGCAAGACTTTGGAGTCAGACTGCCTGGATTCAAATTCTGACCCTACCACTTACAAGTTTCATGGCCTTAAGCAAATTATTTGATCTATAATGCTTCAGTGTTCTCATCTGGAAAATGCAATTAATAAAATTAGCTACTCTCACAGGGCT... |
Task1_train_9582 | A variant affecting Chromosome 5, within the gene HARS1 (histidyl-tRNA synthetase 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Autosomal dominant Charcot-Marie-Tooth disease type 2W | GTTTAGGATCCTGGAGCAGCTGTTCCACCAGGGATACCCCACCTGGGGAGACAGACTTGTGAGTGAGGCTGACAAGGAAACAAAAAAGGTAAGGAGGGTTGACCTTCTTGCCTGGACTCTAGTCGCCCATGCATGTGTGTGTACATATGCATAGACACACTCACTCCCCTACATACATAACACAGAACAGTTTCAACTTTAGGACTGAGGGCAGTGGGACGGCTGCTGGGGAGGCTTGGTTCTGTTCCTCACCATGTTGCTGGACATAGTCCCCAATGCGGTCAGCCACCTCAGGTGCAAGGCCCTTCTCTCCCACCATC... | GTTTAGGATCCTGGAGCAGCTGTTCCACCAGGGATACCCCACCTGGGGAGACAGACTTGTGAGTGAGGCTGACAAGGAAACAAAAAAGGTAAGGAGGGTTGACCTTCTTGCCTGGACTCTAGTCGCCCATGCATGTGTGTGTACATATGCATAGACACACTCACTCCCCTACATACATAACACAGAACAGTTTCAACTTTAGGACTGAGGGCAGTGGGACGGCTGCTGGGGAGGCTTGGTTCTGTTCCTCACCATGTTGCTGGACATAGTCCCCAATGCGGTCAGCCACCTCAGGTGCAAGGCCCTTCTCTCCCACCATC... |
Task1_train_9583 | A variant found in Chromosome 5 affects HARS2 (histidyl-tRNA synthetase 2, mitochondrial). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Perrault syndrome 2 | AAAGAGTACGTGCAACCTCACTCACTTCTTCAATGGCGTTCAGTGTCCCAAAGGGCTTCTCATCTGTGTTTTGGAGTCATGCTTTCAACTGTGGCTCATTCTGTTTGACCCCTATAGGAAACCCTGACTGAGAAGTATGGAGAGGACTCTGGGCTCATGTATGATCTGAAGGATCAAGGTGGAGAGCTGTTGTCCCTCCGCTATGACCTTACTGTATCCTTTTGAGTACTGGAGCCTGACCTGTCTCTTTCCAAATCCAGCGGGCTTTCTCTGACAAAAGTGGAGAACGTGACTTTGGGATCTTAGAGGTCCATTGCCTA... | AAAGAGTACGTGCAACCTCACTCACTTCTTCAATGGCGTTCAGTGTCCCAAAGGGCTTCTCATCTGTGTTTTGGAGTCATGCTTTCAACTGTGGCTCATTCTGTTTGACCCCTATAGGAAACCCTGACTGAGAAGTATGGAGAGGACTCTGGGCTCATGTATGATCTGAAGGATCAAGGTGGAGAGCTGTTGTCCCTCCGCTATGACCTTACTGTATCCTTTTGAGTACTGGAGCCTGACCTGTCTCTTTCCAAATCCAGCGGGCTTTCTCTGACAAAAGTGGAGAACGTGACTTTGGGATCTTAGAGGTCCATTGCCTA... |
Task1_train_9584 | This variant affects the gene HARS2 (histidyl-tRNA synthetase 2, mitochondrial) found on Chromosome 5. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Perrault syndrome | TCCATCCTTTTTGTGTGTCAGGAAAGTAGGTACTGCCATTGTTTTGAGTGGAAGGGCATTGACAAGCACTTGGGTCACTGACATTGAGTTCTCAGGTAAATGACCGGCGGATTGTGGATGGGATGTTTGCTGTCTGTGGTGTTCCTGAAAGCAAGTTCCGTGCCATCTGCTCCTCCATAGATAAACTAGACAAGGTAACAAAGAAGACATACTTCAGTAGACCCTATCTAGCTTCTGCCCTGCCCTCAAATCCATACCACTAGTGAAAAATAAGGAGATTGTGGCTGGAAGTGGGCTATTTTGGGGTGGAAGGTAAGGAG... | TCCATCCTTTTTGTGTGTCAGGAAAGTAGGTACTGCCATTGTTTTGAGTGGAAGGGCATTGACAAGCACTTGGGTCACTGACATTGAGTTCTCAGGTAAATGACCGGCGGATTGTGGATGGGATGTTTGCTGTCTGTGGTGTTCCTGAAAGCAAGTTCCGTGCCATCTGCTCCTCCATAGATAAACTAGACAAGGTAACAAAGAAGACATACTTCAGTAGACCCTATCTAGCTTCTGCCCTGCCCTCAAATCCATACCACTAGTGAAAAATAAGGAGATTGTGGCTGGAAGTGGGCTATTTTGGGGTGGAAGGTAAGGAG... |
Task1_train_9585 | Assess the clinical impact of this variant on gene PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA10, PCDHGA11, PCDHG@, PCDHGA1, PCDHGA12, PCDHGA2, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC4 (protocadherin gamma subfamily A, 3| protocadherin gamma subfamily A, ... | Pathogenic; Neurodevelopmental disorder with poor growth and skeletal anomalies | GAGACGGAAGCTACTCATTTAGAATACTGGTTGATGACAACACTGGCTTGAACAAAGTGACCACTCTCCAATGGCTACTCTCCCTCTCAGTGGGCCGCAGGTTGCTAGGGCTCAGGCTGTGGCTGTTTTCCCCGCCGAAAAGGGGCGGGGTCAGTCGGTGTGTTAGGAAAAAAAATGTATATATATATATATGTTGTCTGCCTCCCCACAGAGATAACAACCCGTGGAAAAACATGCCGTTGAGCGGGAGGAAGGCGAAAAGATAGGCTGGGTTTTTTGGGGGGTGGGGGAGCGTGGAGGATAGGGTGGGCTTTTTCCCC... | GAGACGGAAGCTACTCATTTAGAATACTGGTTGATGACAACACTGGCTTGAACAAAGTGACCACTCTCCAATGGCTACTCTCCCTCTCAGTGGGCCGCAGGTTGCTAGGGCTCAGGCTGTGGCTGTTTTCCCCGCCGAAAAGGGGCGGGGTCAGTCGGTGTGTTAGGAAAAAAAATGTATATATATATATATGTTGTCTGCCTCCCCACAGAGATAACAACCCGTGGAAAAACATGCCGTTGAGCGGGAGGAAGGCGAAAAGATAGGCTGGGTTTTTTGGGGGGTGGGGGAGCGTGGAGGATAGGGTGGGCTTTTTCCCC... |
Task1_train_9586 | Chromosome 5 houses a mutation in gene PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA5, PCDHGA6, PCDHGA4, PCDHGA7, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC4, PCDHG@, PCDHGA1, PCDHGA10, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4 (protocadherin gamma subfamily A, 11| protocadherin gamma subfamily A, 12| protoca... | Pathogenic; not provided | TCATTTAGAATACTGGTTGATGACAACACTGGCTTGAACAAAGTGACCACTCTCCAATGGCTACTCTCCCTCTCAGTGGGCCGCAGGTTGCTAGGGCTCAGGCTGTGGCTGTTTTCCCCGCCGAAAAGGGGCGGGGTCAGTCGGTGTGTTAGGAAAAAAAATGTATATATATATATATGTTGTCTGCCTCCCCACAGAGATAACAACCCGTGGAAAAACATGCCGTTGAGCGGGAGGAAGGCGAAAAGATAGGCTGGGTTTTTTGGGGGGTGGGGGAGCGTGGAGGATAGGGTGGGCTTTTTCCCCTCCAATGCTGCGAC... | TCATTTAGAATACTGGTTGATGACAACACTGGCTTGAACAAAGTGACCACTCTCCAATGGCTACTCTCCCTCTCAGTGGGCCGCAGGTTGCTAGGGCTCAGGCTGTGGCTGTTTTCCCCGCCGAAAAGGGGCGGGGTCAGTCGGTGTGTTAGGAAAAAAAATGTATATATATATATATGTTGTCTGCCTCCCCACAGAGATAACAACCCGTGGAAAAACATGCCGTTGAGCGGGAGGAAGGCGAAAAGATAGGCTGGGTTTTTTGGGGGGTGGGGGAGCGTGGAGGATAGGGTGGGCTTTTTCCCCTCCAATGCTGCGAC... |
Task1_train_9587 | This alteration in SPRY4 (sprouty RTK signaling antagonist 4) on Chromosome 5 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hypogonadotropic hypogonadism 17 with or without anosmia | ATACACAAAAGGCTATGACAGTGAGCAGCAGAATCAGAAGAGAAGAAACCCAAACCCAGCCTGGCTCAGCGGTCATTCTGCCAATGGGAGGTGCTGCCTCTCTTCTTTGCTGTTAAAATCCTCTTGTTGATAGGGAGGGAAATTGTGTTCCTTGAGGTTGCTCGCCCCCAGATTTTGAAATCAGCCCTTCCTGGGGGTGGCCAAAAGGAAACAAGTTGTTTTATTATTATTTTTTAAAACACCGTTAGCATCCGGTTTAATTATTCTATAAAAACATAATGACTGGATCCAGAGACCACAGCCTCAGACTCATTGGCAAA... | ATACACAAAAGGCTATGACAGTGAGCAGCAGAATCAGAAGAGAAGAAACCCAAACCCAGCCTGGCTCAGCGGTCATTCTGCCAATGGGAGGTGCTGCCTCTCTTCTTTGCTGTTAAAATCCTCTTGTTGATAGGGAGGGAAATTGTGTTCCTTGAGGTTGCTCGCCCCCAGATTTTGAAATCAGCCCTTCCTGGGGGTGGCCAAAAGGAAACAAGTTGTTTTATTATTATTTTTTAAAACACCGTTAGCATCCGGTTTAATTATTCTATAAAAACATAATGACTGGATCCAGAGACCACAGCCTCAGACTCATTGGCAAA... |
Task1_train_9588 | A variant was discovered in gene ARHGAP26 (Rho GTPase activating protein 26), Chromosome 5. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Juvenile myelomonocytic leukemia | ATAAATACAATAAGTAGGAGAAGAAGAGGTGTACAAGTTCCTCTTCCCCCTCTAAAATGAAAATGGAAATGATGTATTTTAACTTCTACGAAAGTCTTCATTGAGCACAAAGAAGAAATAAGGACAGTATGAGTTAGGTGCCATTTTAGCGTAAATAGTTGAAAAAAGTGGGTATCTCCCGATTGCAGTGTGTGTATGTGCATACGTATTTATGGTGATCAGAGATGAACAGACTTCCCATACTCTCTGGGATTTGACAATTGTCCAGTGGGAGGTGGGATTGTGTAAAGTCCCGGGAAAGCACAAGGATAGAAGAAGTA... | ATAAATACAATAAGTAGGAGAAGAAGAGGTGTACAAGTTCCTCTTCCCCCTCTAAAATGAAAATGGAAATGATGTATTTTAACTTCTACGAAAGTCTTCATTGAGCACAAAGAAGAAATAAGGACAGTATGAGTTAGGTGCCATTTTAGCGTAAATAGTTGAAAAAAGTGGGTATCTCCCGATTGCAGTGTGTGTATGTGCATACGTATTTATGGTGATCAGAGATGAACAGACTTCCCATACTCTCTGGGATTTGACAATTGTCCAGTGGGAGGTGGGATTGTGTAAAGTCCCGGGAAAGCACAAGGATAGAAGAAGTA... |
Task1_train_9589 | Here is a genetic alteration in NR3C1 (nuclear receptor subfamily 3 group C member 1) on Chromosome 5. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Glucocorticoid resistance | GGTGCCTTTAAGGATGTAAGCACCACCTTCCTGTCTCCTGTTTACATACTTTACATACTTTAGTGCAAGGGGAGATTGAGTAAACTAAACCTGCGCTGACAGACTCACTGTTGGAATGAGAAGGGTGGTCAGAATGGGAGGCAGAGGATAACTTCCTCTGTAATCTCACTGGGTCAGAGCCTCAGCAACCTTCACTGCACACAGGACCAGTCTCCATCTCCCTCTTCCCCTAGAGCAAACTGTTTGGTTTCTGAGACCATCGCTGCCTGTATGAATGCATGTACAAACTATAAATCATATAGGTTATCCATCAGCATTTC... | GGTGCCTTTAAGGATGTAAGCACCACCTTCCTGTCTCCTGTTTACATACTTTACATACTTTAGTGCAAGGGGAGATTGAGTAAACTAAACCTGCGCTGACAGACTCACTGTTGGAATGAGAAGGGTGGTCAGAATGGGAGGCAGAGGATAACTTCCTCTGTAATCTCACTGGGTCAGAGCCTCAGCAACCTTCACTGCACACAGGACCAGTCTCCATCTCCCTCTTCCCCTAGAGCAAACTGTTTGGTTTCTGAGACCATCGCTGCCTGTATGAATGCATGTACAAACTATAAATCATATAGGTTATCCATCAGCATTTC... |
Task1_train_9590 | This gene mutation involves NR3C1 (nuclear receptor subfamily 3 group C member 1) on Chromosome 5. Is it associated with any clinical condition, or is it benign? | Pathogenic; GLUCOCORTICOID RESISTANCE, CELLULAR | TTAGTGCAAGGGGAGATTGAGTAAACTAAACCTGCGCTGACAGACTCACTGTTGGAATGAGAAGGGTGGTCAGAATGGGAGGCAGAGGATAACTTCCTCTGTAATCTCACTGGGTCAGAGCCTCAGCAACCTTCACTGCACACAGGACCAGTCTCCATCTCCCTCTTCCCCTAGAGCAAACTGTTTGGTTTCTGAGACCATCGCTGCCTGTATGAATGCATGTACAAACTATAAATCATATAGGTTATCCATCAGCATTTCTTTGACCCCTACAAAAAATATATAACATGTCATGATAAAACAATCTCATCTAAAAATCA... | TTAGTGCAAGGGGAGATTGAGTAAACTAAACCTGCGCTGACAGACTCACTGTTGGAATGAGAAGGGTGGTCAGAATGGGAGGCAGAGGATAACTTCCTCTGTAATCTCACTGGGTCAGAGCCTCAGCAACCTTCACTGCACACAGGACCAGTCTCCATCTCCCTCTTCCCCTAGAGCAAACTGTTTGGTTTCTGAGACCATCGCTGCCTGTATGAATGCATGTACAAACTATAAATCATATAGGTTATCCATCAGCATTTCTTTGACCCCTACAAAAAATATATAACATGTCATGATAAAACAATCTCATCTAAAAATCA... |
Task1_train_9591 | Gene NR3C1 (nuclear receptor subfamily 3 group C member 1) on Chromosome 5 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Glucocorticoid resistance | GAGTAAACTAAACCTGCGCTGACAGACTCACTGTTGGAATGAGAAGGGTGGTCAGAATGGGAGGCAGAGGATAACTTCCTCTGTAATCTCACTGGGTCAGAGCCTCAGCAACCTTCACTGCACACAGGACCAGTCTCCATCTCCCTCTTCCCCTAGAGCAAACTGTTTGGTTTCTGAGACCATCGCTGCCTGTATGAATGCATGTACAAACTATAAATCATATAGGTTATCCATCAGCATTTCTTTGACCCCTACAAAAAATATATAACATGTCATGATAAAACAATCTCATCTAAAAATCATTCTTATTTTACACTATA... | GAGTAAACTAAACCTGCGCTGACAGACTCACTGTTGGAATGAGAAGGGTGGTCAGAATGGGAGGCAGAGGATAACTTCCTCTGTAATCTCACTGGGTCAGAGCCTCAGCAACCTTCACTGCACACAGGACCAGTCTCCATCTCCCTCTTCCCCTAGAGCAAACTGTTTGGTTTCTGAGACCATCGCTGCCTGTATGAATGCATGTACAAACTATAAATCATATAGGTTATCCATCAGCATTTCTTTGACCCCTACAAAAAATATATAACATGTCATGATAAAACAATCTCATCTAAAAATCATTCTTATTTTACACTATA... |
Task1_train_9592 | A variant found in Chromosome 5 affects NR3C1 (nuclear receptor subfamily 3 group C member 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Glucocorticoid resistance | GTTGGAATGAGAAGGGTGGTCAGAATGGGAGGCAGAGGATAACTTCCTCTGTAATCTCACTGGGTCAGAGCCTCAGCAACCTTCACTGCACACAGGACCAGTCTCCATCTCCCTCTTCCCCTAGAGCAAACTGTTTGGTTTCTGAGACCATCGCTGCCTGTATGAATGCATGTACAAACTATAAATCATATAGGTTATCCATCAGCATTTCTTTGACCCCTACAAAAAATATATAACATGTCATGATAAAACAATCTCATCTAAAAATCATTCTTATTTTACACTATACAAGCTATTTTACAATCATTTTAATAAATTGC... | GTTGGAATGAGAAGGGTGGTCAGAATGGGAGGCAGAGGATAACTTCCTCTGTAATCTCACTGGGTCAGAGCCTCAGCAACCTTCACTGCACACAGGACCAGTCTCCATCTCCCTCTTCCCCTAGAGCAAACTGTTTGGTTTCTGAGACCATCGCTGCCTGTATGAATGCATGTACAAACTATAAATCATATAGGTTATCCATCAGCATTTCTTTGACCCCTACAAAAAATATATAACATGTCATGATAAAACAATCTCATCTAAAAATCATTCTTATTTTACACTATACAAGCTATTTTACAATCATTTTAATAAATTGC... |
Task1_train_9593 | A genetic alteration is present in NR3C1 (nuclear receptor subfamily 3 group C member 1) on Chromosome 5. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Glucocorticoid resistance | CAGTAGCTGAGCTTTCCTGTACCATCAGGAAAGATTAACCAATTGGTGACAGATGGGAATGTGAAAATGGGTGTCTAGCCATTTTTGCCATATTAGAGATTTAGTTTTTGGGTAAAGTTTAGTGAGAGGAATTACTTTGTCTGATTAAAAGTCTCTCAGCTGTGTTACAGCTGGTTATCTGGAATCACAACTTTTAAGAAGTTATACAAACTACTTCAAAAGGTCCTGAAAGACAAATAGTTTACCAGCTTTCTTGCCATATAGCCATTGCAAAAATAGGGCGTTAGGTACAGACAGGGCCTCTTGGTAGTTATTTTTTA... | CAGTAGCTGAGCTTTCCTGTACCATCAGGAAAGATTAACCAATTGGTGACAGATGGGAATGTGAAAATGGGTGTCTAGCCATTTTTGCCATATTAGAGATTTAGTTTTTGGGTAAAGTTTAGTGAGAGGAATTACTTTGTCTGATTAAAAGTCTCTCAGCTGTGTTACAGCTGGTTATCTGGAATCACAACTTTTAAGAAGTTATACAAACTACTTCAAAAGGTCCTGAAAGACAAATAGTTTACCAGCTTTCTTGCCATATAGCCATTGCAAAAATAGGGCGTTAGGTACAGACAGGGCCTCTTGGTAGTTATTTTTTA... |
Task1_train_9594 | Gene NR3C1 (nuclear receptor subfamily 3 group C member 1) on Chromosome 5 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Glucocorticoid resistance | CCTATTGAAATCATTTTAAAAAAGATTATAAACTTAAAAAAACCCCAACTTACTAAACTTACTAATTTACCAGGTTCTACAAATGCCGTCAAAGAGCAAGTTGGCTTGAGTTCCACTTATCTCTGTAGGTTCCTGCCTTCACTTAGTTCTTAATTTTTTTAGTCTAGCATTTTTGGTGGGAGGTTATATACCTATTCCAGTAGTCTATCATAGTAGAAGTCTATATCTTAAGGTATATATTTCCATCCTTATGATTCTATTATTTTTTAACAAGAAGAACTCGTGATATTATTTACAATGAAAAAAATCATATAGCTCAA... | CCTATTGAAATCATTTTAAAAAAGATTATAAACTTAAAAAAACCCCAACTTACTAAACTTACTAATTTACCAGGTTCTACAAATGCCGTCAAAGAGCAAGTTGGCTTGAGTTCCACTTATCTCTGTAGGTTCCTGCCTTCACTTAGTTCTTAATTTTTTTAGTCTAGCATTTTTGGTGGGAGGTTATATACCTATTCCAGTAGTCTATCATAGTAGAAGTCTATATCTTAAGGTATATATTTCCATCCTTATGATTCTATTATTTTTTAACAAGAAGAACTCGTGATATTATTTACAATGAAAAAAATCATATAGCTCAA... |
Task1_train_9595 | Here is a mutation in NR3C1 (nuclear receptor subfamily 3 group C member 1) on Chromosome 5. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; GLUCOCORTICOID RESISTANCE, ATYPICAL | GCCACATGTACATTTGCTTTACATTACACTTGTCCTGCCCCAAGCACTCATAACTCTATTTCCAGTTTGCCTAGATCCTAGATACCTAGTAGGATTGTTTCAGTCCTGAATTATCACAATAGCAGTCAATCAGGAAAACATCAGCTGGTTAAAGATACCCTATGAATACAGGGAAAATGACACACATACAACTTACTCATTAATAATCAGATCAGGAGCAAAACACAGCAGGTTTGCACTTGATTGTCTATATGATCTCCACCCCAGAGCAAATGCCATAAGAAACATCCAGGAGTACTGCAGTAGGGTCATTTGGTCAT... | GCCACATGTACATTTGCTTTACATTACACTTGTCCTGCCCCAAGCACTCATAACTCTATTTCCAGTTTGCCTAGATCCTAGATACCTAGTAGGATTGTTTCAGTCCTGAATTATCACAATAGCAGTCAATCAGGAAAACATCAGCTGGTTAAAGATACCCTATGAATACAGGGAAAATGACACACATACAACTTACTCATTAATAATCAGATCAGGAGCAAAACACAGCAGGTTTGCACTTGATTGTCTATATGATCTCCACCCCAGAGCAAATGCCATAAGAAACATCCAGGAGTACTGCAGTAGGGTCATTTGGTCAT... |
Task1_train_9596 | This variant affects gene NR3C1 (nuclear receptor subfamily 3 group C member 1) located on Chromosome 5. Evaluate its biological effect and specify any disease association. | Pathogenic; Glucocorticoid resistance | GCCCCAAGCACTCATAACTCTATTTCCAGTTTGCCTAGATCCTAGATACCTAGTAGGATTGTTTCAGTCCTGAATTATCACAATAGCAGTCAATCAGGAAAACATCAGCTGGTTAAAGATACCCTATGAATACAGGGAAAATGACACACATACAACTTACTCATTAATAATCAGATCAGGAGCAAAACACAGCAGGTTTGCACTTGATTGTCTATATGATCTCCACCCCAGAGCAAATGCCATAAGAAACATCCAGGAGTACTGCAGTAGGGTCATTTGGTCATCCAGGTGTAAGTTCCTGAAACCTGAATTAAGAGAAA... | GCCCCAAGCACTCATAACTCTATTTCCAGTTTGCCTAGATCCTAGATACCTAGTAGGATTGTTTCAGTCCTGAATTATCACAATAGCAGTCAATCAGGAAAACATCAGCTGGTTAAAGATACCCTATGAATACAGGGAAAATGACACACATACAACTTACTCATTAATAATCAGATCAGGAGCAAAACACAGCAGGTTTGCACTTGATTGTCTATATGATCTCCACCCCAGAGCAAATGCCATAAGAAACATCCAGGAGTACTGCAGTAGGGTCATTTGGTCATCCAGGTGTAAGTTCCTGAAACCTGAATTAAGAGAAA... |
Task1_train_9597 | This mutation is located in gene NR3C1 (nuclear receptor subfamily 3 group C member 1) on Chromosome 5. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | CATAAATCTATTTTCTATTTAACAAGATGTCTACACACAGTGTGTGCTAGATAGCACCAACAATTAGTCTCTCCTATCAAAAGAACCACATAGGTCAGTTGCAGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCCACGTTGGGAGGATCACTTAAGGCCAGGAGTTAGACACCAGCCTGGGAACATAGCAAGACCCCTTTGTCTCTACAAAAAATTAAAACAAAAATTAAAAAAAAATCAGCTGGGCATGGTAGTGTACATCCGTAGCCCTACTGGGTGGGAAGATGGCTTGAGTCTAGGAGTTCAAGGCTGCAG... | CATAAATCTATTTTCTATTTAACAAGATGTCTACACACAGTGTGTGCTAGATAGCACCAACAATTAGTCTCTCCTATCAAAAGAACCACATAGGTCAGTTGCAGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCCACGTTGGGAGGATCACTTAAGGCCAGGAGTTAGACACCAGCCTGGGAACATAGCAAGACCCCTTTGTCTCTACAAAAAATTAAAACAAAAATTAAAAAAAAATCAGCTGGGCATGGTAGTGTACATCCGTAGCCCTACTGGGTGGGAAGATGGCTTGAGTCTAGGAGTTCAAGGCTGCAG... |
Task1_train_9598 | The gene YIPF5 (Yip1 domain family member 5) on Chromosome 5 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Microcephaly, epilepsy, and diabetes syndrome 2 | TTTGGCTGAAGATTAACAGTGTTAAGTCTAACCAACAGCGAGATAATTTTAATTTCCAAAGCATCTTCTACCGTTTATTAGCAATATTTGGATATTAAGGGAAGACATTTGCCTTAACAAAAACTATACTGAAAAAGACAAATGAATTGAAAAAGACAAAAATACTATCCAAGAATTACAATAAAAAATTTGGTTAAGTTGGAAAGCCTATCAAATTACCTTCCAAATTGCTTTTTTAAAGCAATTTGGTAAGTTTGAAAACCTAGCCCAAAACAAATTAATGACAAGTGGGTTTCTCCAGACGATTAATGAAGAAAAAC... | TTTGGCTGAAGATTAACAGTGTTAAGTCTAACCAACAGCGAGATAATTTTAATTTCCAAAGCATCTTCTACCGTTTATTAGCAATATTTGGATATTAAGGGAAGACATTTGCCTTAACAAAAACTATACTGAAAAAGACAAATGAATTGAAAAAGACAAAAATACTATCCAAGAATTACAATAAAAAATTTGGTTAAGTTGGAAAGCCTATCAAATTACCTTCCAAATTGCTTTTTTAAAGCAATTTGGTAAGTTTGAAAACCTAGCCCAAAACAAATTAATGACAAGTGGGTTTCTCCAGACGATTAATGAAGAAAAAC... |
Task1_train_9599 | Gene YIPF5 (Yip1 domain family member 5) on Chromosome 5 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Microcephaly, epilepsy, and diabetes syndrome 2 | TAAAAATGAACAAGAGATACACGTTTACTTTCATTGCTCCAACAGTCAAATGTAAATCTGCATGAGAGTTGCGCTGCAGCAGTTTGCTGGTCCAATTTAAGAGTTCAAGGTCCTTTTTGTACATCTGGCCCACTGATGTCCACATCCCAGATAAATTTTCAAAAGACGGAAATCAGGGCAAAGACTCCATATAACAAAGCGCAAGGATATGCTACTAAAAGTTGCTGTCCTTCCATGGCTAATGCAGAAATAAATATTTTGGAAGCAGAAAAACTACACCATCCAATAATCCCAGCAGTGAGAATGATTCCTACCATTCC... | TAAAAATGAACAAGAGATACACGTTTACTTTCATTGCTCCAACAGTCAAATGTAAATCTGCATGAGAGTTGCGCTGCAGCAGTTTGCTGGTCCAATTTAAGAGTTCAAGGTCCTTTTTGTACATCTGGCCCACTGATGTCCACATCCCAGATAAATTTTCAAAAGACGGAAATCAGGGCAAAGACTCCATATAACAAAGCGCAAGGATATGCTACTAAAAGTTGCTGTCCTTCCATGGCTAATGCAGAAATAAATATTTTGGAAGCAGAAAAACTACACCATCCAATAATCCCAGCAGTGAGAATGATTCCTACCATTCC... |
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