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_3300 | An alteration has been detected in SPAST (spastin) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hereditary spastic paraplegia 4 | TCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATTGCCTGAGCCCAGGAGTTCGAGACCAGCCTAGGCAACATAGTGAGTGAGACCCTGTTTCTATAAAAAAAATTTTTAATTAGTCCGGTCTGGTGGTGCACAACTGATGTCCCAGCTACTTGGGAGTTTGAGGTGGGAGGATGGATCACTTGAGCCCAGGAAGATTAAGGCCACAATGAGCTGTGATCATGCCACTGCACTCCAGCCCAGGCCACAGGTTTCAAAAAAAGAGAAAATTAGAATTATACGTTAGGGGGAAAAAACCTAATAACCATATTCCTATCTACCT... | TCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATTGCCTGAGCCCAGGAGTTCGAGACCAGCCTAGGCAACATAGTGAGTGAGACCCTGTTTCTATAAAAAAAATTTTTAATTAGTCCGGTCTGGTGGTGCACAACTGATGTCCCAGCTACTTGGGAGTTTGAGGTGGGAGGATGGATCACTTGAGCCCAGGAAGATTAAGGCCACAATGAGCTGTGATCATGCCACTGCACTCCAGCCCAGGCCACAGGTTTCAAAAAAAGAGAAAATTAGAATTATACGTTAGGGGGAAAAAACCTAATAACCATATTCCTATCTACCT... |
Task1_train_3301 | Given this context: Chromosome 2, gene SPAST (spastin) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | AGCACAGTGGATTTTTAAGGCAGTGAAACTGTTCTTTATGATAATCCAATGGTGGATACATGTCATTATACCTTTGTCAAAACCCACAGAATATAAAACATAAGAGTGAACCCTAATGTAAAATATGGACTTCAGTTAATAATAATATATGAATATTTTTTCATTAGTTCTAACAAGTGTACTACACTAATACAAGATATTCAGAGTAGGGGAAATTGGAAAGGAATGAGAGGTTATATGGGAACTCTGTACTTTCTGCTCAATTTTCTGTAAACCTAAAATCACTAAAAAAAAAGTTTATTTTTATTTTTATTTTTTTT... | AGCACAGTGGATTTTTAAGGCAGTGAAACTGTTCTTTATGATAATCCAATGGTGGATACATGTCATTATACCTTTGTCAAAACCCACAGAATATAAAACATAAGAGTGAACCCTAATGTAAAATATGGACTTCAGTTAATAATAATATATGAATATTTTTTCATTAGTTCTAACAAGTGTACTACACTAATACAAGATATTCAGAGTAGGGGAAATTGGAAAGGAATGAGAGGTTATATGGGAACTCTGTACTTTCTGCTCAATTTTCTGTAAACCTAAAATCACTAAAAAAAAAGTTTATTTTTATTTTTATTTTTTTT... |
Task1_train_3302 | A genetic alteration is present in SPAST (spastin) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hereditary spastic paraplegia 4 | GCACAGTGGATTTTTAAGGCAGTGAAACTGTTCTTTATGATAATCCAATGGTGGATACATGTCATTATACCTTTGTCAAAACCCACAGAATATAAAACATAAGAGTGAACCCTAATGTAAAATATGGACTTCAGTTAATAATAATATATGAATATTTTTTCATTAGTTCTAACAAGTGTACTACACTAATACAAGATATTCAGAGTAGGGGAAATTGGAAAGGAATGAGAGGTTATATGGGAACTCTGTACTTTCTGCTCAATTTTCTGTAAACCTAAAATCACTAAAAAAAAAGTTTATTTTTATTTTTATTTTTTTTT... | GCACAGTGGATTTTTAAGGCAGTGAAACTGTTCTTTATGATAATCCAATGGTGGATACATGTCATTATACCTTTGTCAAAACCCACAGAATATAAAACATAAGAGTGAACCCTAATGTAAAATATGGACTTCAGTTAATAATAATATATGAATATTTTTTCATTAGTTCTAACAAGTGTACTACACTAATACAAGATATTCAGAGTAGGGGAAATTGGAAAGGAATGAGAGGTTATATGGGAACTCTGTACTTTCTGCTCAATTTTCTGTAAACCTAAAATCACTAAAAAAAAAGTTTATTTTTATTTTTATTTTTTTTT... |
Task1_train_3303 | Here is a genetic alteration in SPAST (spastin) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Hereditary spastic paraplegia 4 | AGGCAGTGAAACTGTTCTTTATGATAATCCAATGGTGGATACATGTCATTATACCTTTGTCAAAACCCACAGAATATAAAACATAAGAGTGAACCCTAATGTAAAATATGGACTTCAGTTAATAATAATATATGAATATTTTTTCATTAGTTCTAACAAGTGTACTACACTAATACAAGATATTCAGAGTAGGGGAAATTGGAAAGGAATGAGAGGTTATATGGGAACTCTGTACTTTCTGCTCAATTTTCTGTAAACCTAAAATCACTAAAAAAAAAGTTTATTTTTATTTTTATTTTTTTTTAATTTTTAATTTTTTG... | AGGCAGTGAAACTGTTCTTTATGATAATCCAATGGTGGATACATGTCATTATACCTTTGTCAAAACCCACAGAATATAAAACATAAGAGTGAACCCTAATGTAAAATATGGACTTCAGTTAATAATAATATATGAATATTTTTTCATTAGTTCTAACAAGTGTACTACACTAATACAAGATATTCAGAGTAGGGGAAATTGGAAAGGAATGAGAGGTTATATGGGAACTCTGTACTTTCTGCTCAATTTTCTGTAAACCTAAAATCACTAAAAAAAAAGTTTATTTTTATTTTTATTTTTTTTTAATTTTTAATTTTTTG... |
Task1_train_3304 | Gene SPAST (spastin) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Hereditary spastic paraplegia | TGTTCTTTATGATAATCCAATGGTGGATACATGTCATTATACCTTTGTCAAAACCCACAGAATATAAAACATAAGAGTGAACCCTAATGTAAAATATGGACTTCAGTTAATAATAATATATGAATATTTTTTCATTAGTTCTAACAAGTGTACTACACTAATACAAGATATTCAGAGTAGGGGAAATTGGAAAGGAATGAGAGGTTATATGGGAACTCTGTACTTTCTGCTCAATTTTCTGTAAACCTAAAATCACTAAAAAAAAAGTTTATTTTTATTTTTATTTTTTTTTAATTTTTAATTTTTTGAGATGGAGTTTC... | TGTTCTTTATGATAATCCAATGGTGGATACATGTCATTATACCTTTGTCAAAACCCACAGAATATAAAACATAAGAGTGAACCCTAATGTAAAATATGGACTTCAGTTAATAATAATATATGAATATTTTTTCATTAGTTCTAACAAGTGTACTACACTAATACAAGATATTCAGAGTAGGGGAAATTGGAAAGGAATGAGAGGTTATATGGGAACTCTGTACTTTCTGCTCAATTTTCTGTAAACCTAAAATCACTAAAAAAAAAGTTTATTTTTATTTTTATTTTTTTTTAATTTTTAATTTTTTGAGATGGAGTTTC... |
Task1_train_3305 | This sequence variant lies in SPAST (spastin) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hereditary spastic paraplegia 4 | TCCAATGGTGGATACATGTCATTATACCTTTGTCAAAACCCACAGAATATAAAACATAAGAGTGAACCCTAATGTAAAATATGGACTTCAGTTAATAATAATATATGAATATTTTTTCATTAGTTCTAACAAGTGTACTACACTAATACAAGATATTCAGAGTAGGGGAAATTGGAAAGGAATGAGAGGTTATATGGGAACTCTGTACTTTCTGCTCAATTTTCTGTAAACCTAAAATCACTAAAAAAAAAGTTTATTTTTATTTTTATTTTTTTTTAATTTTTAATTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAG... | TCCAATGGTGGATACATGTCATTATACCTTTGTCAAAACCCACAGAATATAAAACATAAGAGTGAACCCTAATGTAAAATATGGACTTCAGTTAATAATAATATATGAATATTTTTTCATTAGTTCTAACAAGTGTACTACACTAATACAAGATATTCAGAGTAGGGGAAATTGGAAAGGAATGAGAGGTTATATGGGAACTCTGTACTTTCTGCTCAATTTTCTGTAAACCTAAAATCACTAAAAAAAAAGTTTATTTTTATTTTTATTTTTTTTTAATTTTTAATTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAG... |
Task1_train_3306 | This variant affects gene SPAST (spastin) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Hereditary spastic paraplegia 4 | AATGGTGGATACATGTCATTATACCTTTGTCAAAACCCACAGAATATAAAACATAAGAGTGAACCCTAATGTAAAATATGGACTTCAGTTAATAATAATATATGAATATTTTTTCATTAGTTCTAACAAGTGTACTACACTAATACAAGATATTCAGAGTAGGGGAAATTGGAAAGGAATGAGAGGTTATATGGGAACTCTGTACTTTCTGCTCAATTTTCTGTAAACCTAAAATCACTAAAAAAAAAGTTTATTTTTATTTTTATTTTTTTTTAATTTTTAATTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCT... | AATGGTGGATACATGTCATTATACCTTTGTCAAAACCCACAGAATATAAAACATAAGAGTGAACCCTAATGTAAAATATGGACTTCAGTTAATAATAATATATGAATATTTTTTCATTAGTTCTAACAAGTGTACTACACTAATACAAGATATTCAGAGTAGGGGAAATTGGAAAGGAATGAGAGGTTATATGGGAACTCTGTACTTTCTGCTCAATTTTCTGTAAACCTAAAATCACTAAAAAAAAAGTTTATTTTTATTTTTATTTTTTTTTAATTTTTAATTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCT... |
Task1_train_3307 | Gene SPAST (spastin) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hereditary spastic paraplegia | GGATACATGTCATTATACCTTTGTCAAAACCCACAGAATATAAAACATAAGAGTGAACCCTAATGTAAAATATGGACTTCAGTTAATAATAATATATGAATATTTTTTCATTAGTTCTAACAAGTGTACTACACTAATACAAGATATTCAGAGTAGGGGAAATTGGAAAGGAATGAGAGGTTATATGGGAACTCTGTACTTTCTGCTCAATTTTCTGTAAACCTAAAATCACTAAAAAAAAAGTTTATTTTTATTTTTATTTTTTTTTAATTTTTAATTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAATA... | GGATACATGTCATTATACCTTTGTCAAAACCCACAGAATATAAAACATAAGAGTGAACCCTAATGTAAAATATGGACTTCAGTTAATAATAATATATGAATATTTTTTCATTAGTTCTAACAAGTGTACTACACTAATACAAGATATTCAGAGTAGGGGAAATTGGAAAGGAATGAGAGGTTATATGGGAACTCTGTACTTTCTGCTCAATTTTCTGTAAACCTAAAATCACTAAAAAAAAAGTTTATTTTTATTTTTATTTTTTTTTAATTTTTAATTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAATA... |
Task1_train_3308 | Given this variant in gene SPAST (spastin) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hereditary spastic paraplegia 4 | GGATACATGTCATTATACCTTTGTCAAAACCCACAGAATATAAAACATAAGAGTGAACCCTAATGTAAAATATGGACTTCAGTTAATAATAATATATGAATATTTTTTCATTAGTTCTAACAAGTGTACTACACTAATACAAGATATTCAGAGTAGGGGAAATTGGAAAGGAATGAGAGGTTATATGGGAACTCTGTACTTTCTGCTCAATTTTCTGTAAACCTAAAATCACTAAAAAAAAAGTTTATTTTTATTTTTATTTTTTTTTAATTTTTAATTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAATA... | GGATACATGTCATTATACCTTTGTCAAAACCCACAGAATATAAAACATAAGAGTGAACCCTAATGTAAAATATGGACTTCAGTTAATAATAATATATGAATATTTTTTCATTAGTTCTAACAAGTGTACTACACTAATACAAGATATTCAGAGTAGGGGAAATTGGAAAGGAATGAGAGGTTATATGGGAACTCTGTACTTTCTGCTCAATTTTCTGTAAACCTAAAATCACTAAAAAAAAAGTTTATTTTTATTTTTATTTTTTTTTAATTTTTAATTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAATA... |
Task1_train_3309 | A sequence alteration has been identified in SPAST (spastin) on Chromosome 2. Is it disease-inducing or harmless? | Pathogenic; Hereditary spastic paraplegia 4 | ATGTCATTATACCTTTGTCAAAACCCACAGAATATAAAACATAAGAGTGAACCCTAATGTAAAATATGGACTTCAGTTAATAATAATATATGAATATTTTTTCATTAGTTCTAACAAGTGTACTACACTAATACAAGATATTCAGAGTAGGGGAAATTGGAAAGGAATGAGAGGTTATATGGGAACTCTGTACTTTCTGCTCAATTTTCTGTAAACCTAAAATCACTAAAAAAAAAGTTTATTTTTATTTTTATTTTTTTTTAATTTTTAATTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAATACAATGG... | ATGTCATTATACCTTTGTCAAAACCCACAGAATATAAAACATAAGAGTGAACCCTAATGTAAAATATGGACTTCAGTTAATAATAATATATGAATATTTTTTCATTAGTTCTAACAAGTGTACTACACTAATACAAGATATTCAGAGTAGGGGAAATTGGAAAGGAATGAGAGGTTATATGGGAACTCTGTACTTTCTGCTCAATTTTCTGTAAACCTAAAATCACTAAAAAAAAAGTTTATTTTTATTTTTATTTTTTTTTAATTTTTAATTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAATACAATGG... |
Task1_train_3310 | A genomic change on Chromosome 2 affects SPAST (spastin). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hereditary spastic paraplegia 4 | TGTCATTATACCTTTGTCAAAACCCACAGAATATAAAACATAAGAGTGAACCCTAATGTAAAATATGGACTTCAGTTAATAATAATATATGAATATTTTTTCATTAGTTCTAACAAGTGTACTACACTAATACAAGATATTCAGAGTAGGGGAAATTGGAAAGGAATGAGAGGTTATATGGGAACTCTGTACTTTCTGCTCAATTTTCTGTAAACCTAAAATCACTAAAAAAAAAGTTTATTTTTATTTTTATTTTTTTTTAATTTTTAATTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAATACAATGGC... | TGTCATTATACCTTTGTCAAAACCCACAGAATATAAAACATAAGAGTGAACCCTAATGTAAAATATGGACTTCAGTTAATAATAATATATGAATATTTTTTCATTAGTTCTAACAAGTGTACTACACTAATACAAGATATTCAGAGTAGGGGAAATTGGAAAGGAATGAGAGGTTATATGGGAACTCTGTACTTTCTGCTCAATTTTCTGTAAACCTAAAATCACTAAAAAAAAAGTTTATTTTTATTTTTATTTTTTTTTAATTTTTAATTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAATACAATGGC... |
Task1_train_3311 | Here is a variant affecting SPAST (spastin) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hereditary spastic paraplegia 4 | TGTCATTATACCTTTGTCAAAACCCACAGAATATAAAACATAAGAGTGAACCCTAATGTAAAATATGGACTTCAGTTAATAATAATATATGAATATTTTTTCATTAGTTCTAACAAGTGTACTACACTAATACAAGATATTCAGAGTAGGGGAAATTGGAAAGGAATGAGAGGTTATATGGGAACTCTGTACTTTCTGCTCAATTTTCTGTAAACCTAAAATCACTAAAAAAAAAGTTTATTTTTATTTTTATTTTTTTTTAATTTTTAATTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAATACAATGGC... | TGTCATTATACCTTTGTCAAAACCCACAGAATATAAAACATAAGAGTGAACCCTAATGTAAAATATGGACTTCAGTTAATAATAATATATGAATATTTTTTCATTAGTTCTAACAAGTGTACTACACTAATACAAGATATTCAGAGTAGGGGAAATTGGAAAGGAATGAGAGGTTATATGGGAACTCTGTACTTTCTGCTCAATTTTCTGTAAACCTAAAATCACTAAAAAAAAAGTTTATTTTTATTTTTATTTTTTTTTAATTTTTAATTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAATACAATGGC... |
Task1_train_3312 | Gene SPAST (spastin) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Hereditary spastic paraplegia 4 | GTCATTATACCTTTGTCAAAACCCACAGAATATAAAACATAAGAGTGAACCCTAATGTAAAATATGGACTTCAGTTAATAATAATATATGAATATTTTTTCATTAGTTCTAACAAGTGTACTACACTAATACAAGATATTCAGAGTAGGGGAAATTGGAAAGGAATGAGAGGTTATATGGGAACTCTGTACTTTCTGCTCAATTTTCTGTAAACCTAAAATCACTAAAAAAAAAGTTTATTTTTATTTTTATTTTTTTTTAATTTTTAATTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAATACAATGGCA... | GTCATTATACCTTTGTCAAAACCCACAGAATATAAAACATAAGAGTGAACCCTAATGTAAAATATGGACTTCAGTTAATAATAATATATGAATATTTTTTCATTAGTTCTAACAAGTGTACTACACTAATACAAGATATTCAGAGTAGGGGAAATTGGAAAGGAATGAGAGGTTATATGGGAACTCTGTACTTTCTGCTCAATTTTCTGTAAACCTAAAATCACTAAAAAAAAAGTTTATTTTTATTTTTATTTTTTTTTAATTTTTAATTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAATACAATGGCA... |
Task1_train_3313 | The gene SPAST (spastin) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Inborn genetic diseases | ATTATACCTTTGTCAAAACCCACAGAATATAAAACATAAGAGTGAACCCTAATGTAAAATATGGACTTCAGTTAATAATAATATATGAATATTTTTTCATTAGTTCTAACAAGTGTACTACACTAATACAAGATATTCAGAGTAGGGGAAATTGGAAAGGAATGAGAGGTTATATGGGAACTCTGTACTTTCTGCTCAATTTTCTGTAAACCTAAAATCACTAAAAAAAAAGTTTATTTTTATTTTTATTTTTTTTTAATTTTTAATTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAATACAATGGCACGA... | ATTATACCTTTGTCAAAACCCACAGAATATAAAACATAAGAGTGAACCCTAATGTAAAATATGGACTTCAGTTAATAATAATATATGAATATTTTTTCATTAGTTCTAACAAGTGTACTACACTAATACAAGATATTCAGAGTAGGGGAAATTGGAAAGGAATGAGAGGTTATATGGGAACTCTGTACTTTCTGCTCAATTTTCTGTAAACCTAAAATCACTAAAAAAAAAGTTTATTTTTATTTTTATTTTTTTTTAATTTTTAATTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAATACAATGGCACGA... |
Task1_train_3314 | Located on Chromosome 2, this mutation impacts SPAST (spastin). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hereditary spastic paraplegia 4 | ATTATACCTTTGTCAAAACCCACAGAATATAAAACATAAGAGTGAACCCTAATGTAAAATATGGACTTCAGTTAATAATAATATATGAATATTTTTTCATTAGTTCTAACAAGTGTACTACACTAATACAAGATATTCAGAGTAGGGGAAATTGGAAAGGAATGAGAGGTTATATGGGAACTCTGTACTTTCTGCTCAATTTTCTGTAAACCTAAAATCACTAAAAAAAAAGTTTATTTTTATTTTTATTTTTTTTTAATTTTTAATTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAATACAATGGCACGA... | ATTATACCTTTGTCAAAACCCACAGAATATAAAACATAAGAGTGAACCCTAATGTAAAATATGGACTTCAGTTAATAATAATATATGAATATTTTTTCATTAGTTCTAACAAGTGTACTACACTAATACAAGATATTCAGAGTAGGGGAAATTGGAAAGGAATGAGAGGTTATATGGGAACTCTGTACTTTCTGCTCAATTTTCTGTAAACCTAAAATCACTAAAAAAAAAGTTTATTTTTATTTTTATTTTTTTTTAATTTTTAATTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAATACAATGGCACGA... |
Task1_train_3315 | A variant affecting Chromosome 2, within the gene SPAST (spastin), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hereditary spastic paraplegia 4 | TTATACCTTTGTCAAAACCCACAGAATATAAAACATAAGAGTGAACCCTAATGTAAAATATGGACTTCAGTTAATAATAATATATGAATATTTTTTCATTAGTTCTAACAAGTGTACTACACTAATACAAGATATTCAGAGTAGGGGAAATTGGAAAGGAATGAGAGGTTATATGGGAACTCTGTACTTTCTGCTCAATTTTCTGTAAACCTAAAATCACTAAAAAAAAAGTTTATTTTTATTTTTATTTTTTTTTAATTTTTAATTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAATACAATGGCACGAT... | TTATACCTTTGTCAAAACCCACAGAATATAAAACATAAGAGTGAACCCTAATGTAAAATATGGACTTCAGTTAATAATAATATATGAATATTTTTTCATTAGTTCTAACAAGTGTACTACACTAATACAAGATATTCAGAGTAGGGGAAATTGGAAAGGAATGAGAGGTTATATGGGAACTCTGTACTTTCTGCTCAATTTTCTGTAAACCTAAAATCACTAAAAAAAAAGTTTATTTTTATTTTTATTTTTTTTTAATTTTTAATTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAATACAATGGCACGAT... |
Task1_train_3316 | This variant lies on Chromosome 2 and affects the gene SPAST (spastin). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hereditary spastic paraplegia 4 | ATTTTTTGGTGGGATTTCTAAGTAGAGAAACATGCCTATGTTCAATATGTCTTGTTTAAGCAGTCTGCTTTCATTTTTACCACCGAGGAGTTGGTTTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTCAGCCAGGCTGGAGTACAGTGGCACAATCAAAGCTCACTGCACCCTTGGCCTCCCAAGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAATAGCTGGGAGCTCAGGTGATCCAGCACACCCAGCTAATTTTTTTTTTTTTTAATTTTTTGTAGAAGCAGAGTTCCCCT... | ATTTTTTGGTGGGATTTCTAAGTAGAGAAACATGCCTATGTTCAATATGTCTTGTTTAAGCAGTCTGCTTTCATTTTTACCACCGAGGAGTTGGTTTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTCAGCCAGGCTGGAGTACAGTGGCACAATCAAAGCTCACTGCACCCTTGGCCTCCCAAGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAATAGCTGGGAGCTCAGGTGATCCAGCACACCCAGCTAATTTTTTTTTTTTTTAATTTTTTGTAGAAGCAGAGTTCCCCT... |
Task1_train_3317 | Here’s a variant in SPAST (spastin) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hereditary spastic paraplegia 4 | TGTTCAATATGTCTTGTTTAAGCAGTCTGCTTTCATTTTTACCACCGAGGAGTTGGTTTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTCAGCCAGGCTGGAGTACAGTGGCACAATCAAAGCTCACTGCACCCTTGGCCTCCCAAGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAATAGCTGGGAGCTCAGGTGATCCAGCACACCCAGCTAATTTTTTTTTTTTTTAATTTTTTGTAGAAGCAGAGTTCCCCTATGTTGCCCAAGCTGGTCTTGAACTCTTGGGCTCATGT... | TGTTCAATATGTCTTGTTTAAGCAGTCTGCTTTCATTTTTACCACCGAGGAGTTGGTTTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTCAGCCAGGCTGGAGTACAGTGGCACAATCAAAGCTCACTGCACCCTTGGCCTCCCAAGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAATAGCTGGGAGCTCAGGTGATCCAGCACACCCAGCTAATTTTTTTTTTTTTTAATTTTTTGTAGAAGCAGAGTTCCCCTATGTTGCCCAAGCTGGTCTTGAACTCTTGGGCTCATGT... |
Task1_train_3318 | A variant found in Chromosome 2 affects SPAST (spastin). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Hereditary spastic paraplegia 4 | TATGTCTTGTTTAAGCAGTCTGCTTTCATTTTTACCACCGAGGAGTTGGTTTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTCAGCCAGGCTGGAGTACAGTGGCACAATCAAAGCTCACTGCACCCTTGGCCTCCCAAGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAATAGCTGGGAGCTCAGGTGATCCAGCACACCCAGCTAATTTTTTTTTTTTTTAATTTTTTGTAGAAGCAGAGTTCCCCTATGTTGCCCAAGCTGGTCTTGAACTCTTGGGCTCATGTAATCCTC... | TATGTCTTGTTTAAGCAGTCTGCTTTCATTTTTACCACCGAGGAGTTGGTTTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTCAGCCAGGCTGGAGTACAGTGGCACAATCAAAGCTCACTGCACCCTTGGCCTCCCAAGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAATAGCTGGGAGCTCAGGTGATCCAGCACACCCAGCTAATTTTTTTTTTTTTTAATTTTTTGTAGAAGCAGAGTTCCCCTATGTTGCCCAAGCTGGTCTTGAACTCTTGGGCTCATGTAATCCTC... |
Task1_train_3319 | Chromosome 2 houses a mutation in gene SPAST (spastin). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Hereditary spastic paraplegia 4 | TATGTCTTGTTTAAGCAGTCTGCTTTCATTTTTACCACCGAGGAGTTGGTTTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTCAGCCAGGCTGGAGTACAGTGGCACAATCAAAGCTCACTGCACCCTTGGCCTCCCAAGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAATAGCTGGGAGCTCAGGTGATCCAGCACACCCAGCTAATTTTTTTTTTTTTTAATTTTTTGTAGAAGCAGAGTTCCCCTATGTTGCCCAAGCTGGTCTTGAACTCTTGGGCTCATGTAATCCTC... | TATGTCTTGTTTAAGCAGTCTGCTTTCATTTTTACCACCGAGGAGTTGGTTTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTCAGCCAGGCTGGAGTACAGTGGCACAATCAAAGCTCACTGCACCCTTGGCCTCCCAAGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAATAGCTGGGAGCTCAGGTGATCCAGCACACCCAGCTAATTTTTTTTTTTTTTAATTTTTTGTAGAAGCAGAGTTCCCCTATGTTGCCCAAGCTGGTCTTGAACTCTTGGGCTCATGTAATCCTC... |
Task1_train_3320 | This variant affects the gene SPAST (spastin) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hereditary spastic paraplegia 4 | AAGCAGTCTGCTTTCATTTTTACCACCGAGGAGTTGGTTTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTCAGCCAGGCTGGAGTACAGTGGCACAATCAAAGCTCACTGCACCCTTGGCCTCCCAAGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAATAGCTGGGAGCTCAGGTGATCCAGCACACCCAGCTAATTTTTTTTTTTTTTAATTTTTTGTAGAAGCAGAGTTCCCCTATGTTGCCCAAGCTGGTCTTGAACTCTTGGGCTCATGTAATCCTCCTGTCTTTGCCC... | AAGCAGTCTGCTTTCATTTTTACCACCGAGGAGTTGGTTTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTCAGCCAGGCTGGAGTACAGTGGCACAATCAAAGCTCACTGCACCCTTGGCCTCCCAAGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAATAGCTGGGAGCTCAGGTGATCCAGCACACCCAGCTAATTTTTTTTTTTTTTAATTTTTTGTAGAAGCAGAGTTCCCCTATGTTGCCCAAGCTGGTCTTGAACTCTTGGGCTCATGTAATCCTCCTGTCTTTGCCC... |
Task1_train_3321 | A genomic change on Chromosome 2 affects SPAST (spastin). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hereditary spastic paraplegia 4 | GTCTCAAACTTCTGGGCTCAAGTGATCCTCCCATTTCGGCCTCCCAAAGTGCTAGGATCACAGGCATGAGTCACTGTGCCTGGTCTTCAAGTTGTTATTAAAGCATGTTTACCCACATTATGCACATGGTATAATGGAAAGTATTGTTGTGGAAGTTAGGAGATAGGGATTCTAGCCTAGCTTTTTATTTTTTTGGGACAAGGTCTCACTTTTTCGCCCCAGGCCGAAGTGCAGTTGTGCGATCTCGGCTCACTGCAACCTCCAACTCTCAGGTTCAAGCAATTCTCCCACGTCAGCCTCCCGAGTAGCTGGGATTACAG... | GTCTCAAACTTCTGGGCTCAAGTGATCCTCCCATTTCGGCCTCCCAAAGTGCTAGGATCACAGGCATGAGTCACTGTGCCTGGTCTTCAAGTTGTTATTAAAGCATGTTTACCCACATTATGCACATGGTATAATGGAAAGTATTGTTGTGGAAGTTAGGAGATAGGGATTCTAGCCTAGCTTTTTATTTTTTTGGGACAAGGTCTCACTTTTTCGCCCCAGGCCGAAGTGCAGTTGTGCGATCTCGGCTCACTGCAACCTCCAACTCTCAGGTTCAAGCAATTCTCCCACGTCAGCCTCCCGAGTAGCTGGGATTACAG... |
Task1_train_3322 | The variant affects gene SPAST (spastin), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Hereditary spastic paraplegia 4 | TCAAACTTCTGGGCTCAAGTGATCCTCCCATTTCGGCCTCCCAAAGTGCTAGGATCACAGGCATGAGTCACTGTGCCTGGTCTTCAAGTTGTTATTAAAGCATGTTTACCCACATTATGCACATGGTATAATGGAAAGTATTGTTGTGGAAGTTAGGAGATAGGGATTCTAGCCTAGCTTTTTATTTTTTTGGGACAAGGTCTCACTTTTTCGCCCCAGGCCGAAGTGCAGTTGTGCGATCTCGGCTCACTGCAACCTCCAACTCTCAGGTTCAAGCAATTCTCCCACGTCAGCCTCCCGAGTAGCTGGGATTACAGGCA... | TCAAACTTCTGGGCTCAAGTGATCCTCCCATTTCGGCCTCCCAAAGTGCTAGGATCACAGGCATGAGTCACTGTGCCTGGTCTTCAAGTTGTTATTAAAGCATGTTTACCCACATTATGCACATGGTATAATGGAAAGTATTGTTGTGGAAGTTAGGAGATAGGGATTCTAGCCTAGCTTTTTATTTTTTTGGGACAAGGTCTCACTTTTTCGCCCCAGGCCGAAGTGCAGTTGTGCGATCTCGGCTCACTGCAACCTCCAACTCTCAGGTTCAAGCAATTCTCCCACGTCAGCCTCCCGAGTAGCTGGGATTACAGGCA... |
Task1_train_3323 | Given this context: Chromosome 2, gene SPAST (spastin) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Hereditary spastic paraplegia 4 | TTCTGGGCTCAAGTGATCCTCCCATTTCGGCCTCCCAAAGTGCTAGGATCACAGGCATGAGTCACTGTGCCTGGTCTTCAAGTTGTTATTAAAGCATGTTTACCCACATTATGCACATGGTATAATGGAAAGTATTGTTGTGGAAGTTAGGAGATAGGGATTCTAGCCTAGCTTTTTATTTTTTTGGGACAAGGTCTCACTTTTTCGCCCCAGGCCGAAGTGCAGTTGTGCGATCTCGGCTCACTGCAACCTCCAACTCTCAGGTTCAAGCAATTCTCCCACGTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCC... | TTCTGGGCTCAAGTGATCCTCCCATTTCGGCCTCCCAAAGTGCTAGGATCACAGGCATGAGTCACTGTGCCTGGTCTTCAAGTTGTTATTAAAGCATGTTTACCCACATTATGCACATGGTATAATGGAAAGTATTGTTGTGGAAGTTAGGAGATAGGGATTCTAGCCTAGCTTTTTATTTTTTTGGGACAAGGTCTCACTTTTTCGCCCCAGGCCGAAGTGCAGTTGTGCGATCTCGGCTCACTGCAACCTCCAACTCTCAGGTTCAAGCAATTCTCCCACGTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCC... |
Task1_train_3324 | A genomic change on Chromosome 2 affects SPAST (spastin). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hereditary spastic paraplegia 4 | CTCAAGTGATCCTCCCATTTCGGCCTCCCAAAGTGCTAGGATCACAGGCATGAGTCACTGTGCCTGGTCTTCAAGTTGTTATTAAAGCATGTTTACCCACATTATGCACATGGTATAATGGAAAGTATTGTTGTGGAAGTTAGGAGATAGGGATTCTAGCCTAGCTTTTTATTTTTTTGGGACAAGGTCTCACTTTTTCGCCCCAGGCCGAAGTGCAGTTGTGCGATCTCGGCTCACTGCAACCTCCAACTCTCAGGTTCAAGCAATTCTCCCACGTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGC... | CTCAAGTGATCCTCCCATTTCGGCCTCCCAAAGTGCTAGGATCACAGGCATGAGTCACTGTGCCTGGTCTTCAAGTTGTTATTAAAGCATGTTTACCCACATTATGCACATGGTATAATGGAAAGTATTGTTGTGGAAGTTAGGAGATAGGGATTCTAGCCTAGCTTTTTATTTTTTTGGGACAAGGTCTCACTTTTTCGCCCCAGGCCGAAGTGCAGTTGTGCGATCTCGGCTCACTGCAACCTCCAACTCTCAGGTTCAAGCAATTCTCCCACGTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGC... |
Task1_train_3325 | The variant affects gene SPAST (spastin), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Hereditary spastic paraplegia 4 | GTGATCCTCCCATTTCGGCCTCCCAAAGTGCTAGGATCACAGGCATGAGTCACTGTGCCTGGTCTTCAAGTTGTTATTAAAGCATGTTTACCCACATTATGCACATGGTATAATGGAAAGTATTGTTGTGGAAGTTAGGAGATAGGGATTCTAGCCTAGCTTTTTATTTTTTTGGGACAAGGTCTCACTTTTTCGCCCCAGGCCGAAGTGCAGTTGTGCGATCTCGGCTCACTGCAACCTCCAACTCTCAGGTTCAAGCAATTCTCCCACGTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCGGC... | GTGATCCTCCCATTTCGGCCTCCCAAAGTGCTAGGATCACAGGCATGAGTCACTGTGCCTGGTCTTCAAGTTGTTATTAAAGCATGTTTACCCACATTATGCACATGGTATAATGGAAAGTATTGTTGTGGAAGTTAGGAGATAGGGATTCTAGCCTAGCTTTTTATTTTTTTGGGACAAGGTCTCACTTTTTCGCCCCAGGCCGAAGTGCAGTTGTGCGATCTCGGCTCACTGCAACCTCCAACTCTCAGGTTCAAGCAATTCTCCCACGTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCGGC... |
Task1_train_3326 | A variant has been detected on Chromosome 2 in SPAST (spastin). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hereditary spastic paraplegia 4 | CCTCCCATTTCGGCCTCCCAAAGTGCTAGGATCACAGGCATGAGTCACTGTGCCTGGTCTTCAAGTTGTTATTAAAGCATGTTTACCCACATTATGCACATGGTATAATGGAAAGTATTGTTGTGGAAGTTAGGAGATAGGGATTCTAGCCTAGCTTTTTATTTTTTTGGGACAAGGTCTCACTTTTTCGCCCCAGGCCGAAGTGCAGTTGTGCGATCTCGGCTCACTGCAACCTCCAACTCTCAGGTTCAAGCAATTCTCCCACGTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCGGCTAATT... | CCTCCCATTTCGGCCTCCCAAAGTGCTAGGATCACAGGCATGAGTCACTGTGCCTGGTCTTCAAGTTGTTATTAAAGCATGTTTACCCACATTATGCACATGGTATAATGGAAAGTATTGTTGTGGAAGTTAGGAGATAGGGATTCTAGCCTAGCTTTTTATTTTTTTGGGACAAGGTCTCACTTTTTCGCCCCAGGCCGAAGTGCAGTTGTGCGATCTCGGCTCACTGCAACCTCCAACTCTCAGGTTCAAGCAATTCTCCCACGTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCGGCTAATT... |
Task1_train_3327 | A mutation on Chromosome 2 affecting SPAST (spastin) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hereditary spastic paraplegia 4 | GGATCACAGGCATGAGTCACTGTGCCTGGTCTTCAAGTTGTTATTAAAGCATGTTTACCCACATTATGCACATGGTATAATGGAAAGTATTGTTGTGGAAGTTAGGAGATAGGGATTCTAGCCTAGCTTTTTATTTTTTTGGGACAAGGTCTCACTTTTTCGCCCCAGGCCGAAGTGCAGTTGTGCGATCTCGGCTCACTGCAACCTCCAACTCTCAGGTTCAAGCAATTCTCCCACGTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCGGCTAATTTTTGTAGTTTTAGTAGACACAGGGTTTC... | GGATCACAGGCATGAGTCACTGTGCCTGGTCTTCAAGTTGTTATTAAAGCATGTTTACCCACATTATGCACATGGTATAATGGAAAGTATTGTTGTGGAAGTTAGGAGATAGGGATTCTAGCCTAGCTTTTTATTTTTTTGGGACAAGGTCTCACTTTTTCGCCCCAGGCCGAAGTGCAGTTGTGCGATCTCGGCTCACTGCAACCTCCAACTCTCAGGTTCAAGCAATTCTCCCACGTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCGGCTAATTTTTGTAGTTTTAGTAGACACAGGGTTTC... |
Task1_train_3328 | Gene SPAST (spastin), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Hereditary spastic paraplegia 4 | ATCACAGGCATGAGTCACTGTGCCTGGTCTTCAAGTTGTTATTAAAGCATGTTTACCCACATTATGCACATGGTATAATGGAAAGTATTGTTGTGGAAGTTAGGAGATAGGGATTCTAGCCTAGCTTTTTATTTTTTTGGGACAAGGTCTCACTTTTTCGCCCCAGGCCGAAGTGCAGTTGTGCGATCTCGGCTCACTGCAACCTCCAACTCTCAGGTTCAAGCAATTCTCCCACGTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCGGCTAATTTTTGTAGTTTTAGTAGACACAGGGTTTCAC... | ATCACAGGCATGAGTCACTGTGCCTGGTCTTCAAGTTGTTATTAAAGCATGTTTACCCACATTATGCACATGGTATAATGGAAAGTATTGTTGTGGAAGTTAGGAGATAGGGATTCTAGCCTAGCTTTTTATTTTTTTGGGACAAGGTCTCACTTTTTCGCCCCAGGCCGAAGTGCAGTTGTGCGATCTCGGCTCACTGCAACCTCCAACTCTCAGGTTCAAGCAATTCTCCCACGTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCGGCTAATTTTTGTAGTTTTAGTAGACACAGGGTTTCAC... |
Task1_train_3329 | This is a variant in SPAST (spastin), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Hereditary spastic paraplegia 4 | TCACAGGCATGAGTCACTGTGCCTGGTCTTCAAGTTGTTATTAAAGCATGTTTACCCACATTATGCACATGGTATAATGGAAAGTATTGTTGTGGAAGTTAGGAGATAGGGATTCTAGCCTAGCTTTTTATTTTTTTGGGACAAGGTCTCACTTTTTCGCCCCAGGCCGAAGTGCAGTTGTGCGATCTCGGCTCACTGCAACCTCCAACTCTCAGGTTCAAGCAATTCTCCCACGTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCGGCTAATTTTTGTAGTTTTAGTAGACACAGGGTTTCACC... | TCACAGGCATGAGTCACTGTGCCTGGTCTTCAAGTTGTTATTAAAGCATGTTTACCCACATTATGCACATGGTATAATGGAAAGTATTGTTGTGGAAGTTAGGAGATAGGGATTCTAGCCTAGCTTTTTATTTTTTTGGGACAAGGTCTCACTTTTTCGCCCCAGGCCGAAGTGCAGTTGTGCGATCTCGGCTCACTGCAACCTCCAACTCTCAGGTTCAAGCAATTCTCCCACGTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCGGCTAATTTTTGTAGTTTTAGTAGACACAGGGTTTCACC... |
Task1_train_3330 | Here is a mutation in SPAST (spastin) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Hereditary spastic paraplegia 4 | TCACAGGCATGAGTCACTGTGCCTGGTCTTCAAGTTGTTATTAAAGCATGTTTACCCACATTATGCACATGGTATAATGGAAAGTATTGTTGTGGAAGTTAGGAGATAGGGATTCTAGCCTAGCTTTTTATTTTTTTGGGACAAGGTCTCACTTTTTCGCCCCAGGCCGAAGTGCAGTTGTGCGATCTCGGCTCACTGCAACCTCCAACTCTCAGGTTCAAGCAATTCTCCCACGTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCGGCTAATTTTTGTAGTTTTAGTAGACACAGGGTTTCACC... | TCACAGGCATGAGTCACTGTGCCTGGTCTTCAAGTTGTTATTAAAGCATGTTTACCCACATTATGCACATGGTATAATGGAAAGTATTGTTGTGGAAGTTAGGAGATAGGGATTCTAGCCTAGCTTTTTATTTTTTTGGGACAAGGTCTCACTTTTTCGCCCCAGGCCGAAGTGCAGTTGTGCGATCTCGGCTCACTGCAACCTCCAACTCTCAGGTTCAAGCAATTCTCCCACGTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCGGCTAATTTTTGTAGTTTTAGTAGACACAGGGTTTCACC... |
Task1_train_3331 | The gene SPAST (spastin), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hereditary spastic paraplegia 4 | GGGATTACAGGCATGCGCCACCACGCCCGGCTAATTTTTGTAGTTTTAGTAGACACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG... | GGGATTACAGGCATGCGCCACCACGCCCGGCTAATTTTTGTAGTTTTAGTAGACACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG... |
Task1_train_3332 | Consider a variant on Chromosome 2 in gene SPAST (spastin). Determine its clinical classification and disease relevance. | Pathogenic; Hereditary spastic paraplegia 4 | GGCATGCGCCACCACGCCCGGCTAATTTTTGTAGTTTTAGTAGACACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGT... | GGCATGCGCCACCACGCCCGGCTAATTTTTGTAGTTTTAGTAGACACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGT... |
Task1_train_3333 | This is a variant in SPAST (spastin), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Hereditary spastic paraplegia 4 | TGCGCCACCACGCCCGGCTAATTTTTGTAGTTTTAGTAGACACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTG... | TGCGCCACCACGCCCGGCTAATTTTTGTAGTTTTAGTAGACACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTG... |
Task1_train_3334 | Here is a genetic alteration in SPAST (spastin) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Hereditary spastic paraplegia 4 | CACGCCCGGCTAATTTTTGTAGTTTTAGTAGACACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCG... | CACGCCCGGCTAATTTTTGTAGTTTTAGTAGACACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCG... |
Task1_train_3335 | Here is a mutation in SPAST (spastin) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Hereditary spastic paraplegia 4 | TGTAGTTTTAGTAGACACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAG... | TGTAGTTTTAGTAGACACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAG... |
Task1_train_3336 | Given this variant in gene SPAST (spastin) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hereditary spastic paraplegia 4 | CACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGC... | CACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGC... |
Task1_train_3337 | A variant found in Chromosome 2 affects SPAST (spastin). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Hereditary spastic paraplegia 4 | AGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCA... | AGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCA... |
Task1_train_3338 | The following genetic variant occurs in SPAST (spastin) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hereditary spastic paraplegia | AGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCA... | AGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCA... |
Task1_train_3339 | A variant has been detected on Chromosome 2 in SPAST (spastin). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hereditary spastic paraplegia 4 | GGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCAC... | GGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCAC... |
Task1_train_3340 | Gene SPAST (spastin) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | TTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGC... | TTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGC... |
Task1_train_3341 | A variant has been detected on Chromosome 2 in SPAST (spastin). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hereditary spastic paraplegia 4 | TCACCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAA... | TCACCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAA... |
Task1_train_3342 | The gene SPAST (spastin) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Hereditary spastic paraplegia 4 | CCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAAGCTCCACCTCCT... | CCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAAGCTCCACCTCCT... |
Task1_train_3343 | Assess the clinical impact of this variant on gene SPAST (spastin), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Hereditary spastic paraplegia 4 | TCTTGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACG... | TCTTGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACG... |
Task1_train_3344 | A sequence alteration has been identified in SPAST (spastin) on Chromosome 2. Is it disease-inducing or harmless? | Pathogenic; Hereditary spastic paraplegia 4 | GAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCAT... | GAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCAT... |
Task1_train_3345 | With a mutation on Chromosome 2 in gene SPAST (spastin), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Hereditary spastic paraplegia 4 | CTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCT... | CTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCT... |
Task1_train_3346 | Given this variant in gene SPAST (spastin) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hereditary spastic paraplegia 4 | TCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTCTGAGCCGCCGCGC... | TCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTCTGAGCCGCCGCGC... |
Task1_train_3347 | A genomic change on Chromosome 2 affects SPAST (spastin). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | CTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTCTGAGCCGCCGCGCCCGG... | CTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTCTGAGCCGCCGCGCCCGG... |
Task1_train_3348 | A variant was discovered in gene SPAST (spastin), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Hereditary spastic paraplegia 4 | CTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTCTGAGCCGCCGCGCCCGGCC... | CTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTCTGAGCCGCCGCGCCCGGCC... |
Task1_train_3349 | A variant found in Chromosome 2 affects SPAST (spastin). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Spastic paraparesis | TAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTCTGAGCCGCCGCGCCCGGCCTAGA... | TAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTCTGAGCCGCCGCGCCCGGCCTAGA... |
Task1_train_3350 | An alteration has been detected in SPAST (spastin) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hereditary spastic paraplegia 4 | TAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTCTGAGCCGCCGCGCCCGGCCTAGA... | TAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTCTGAGCCGCCGCGCCCGGCCTAGA... |
Task1_train_3351 | Mutation context: Chromosome 2, Gene SPAST (spastin). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Hereditary spastic paraplegia 4 | TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTCTGAGCCGCCGCGCCCGGCCTAGAATATTT... | TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTCTGAGCCGCCGCGCCCGGCCTAGAATATTT... |
Task1_train_3352 | The following genetic variant occurs in SPAST (spastin) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hereditary spastic paraplegia 4 | AAAAAAAGACAATGGAGTACCTAGGAATACGGCTGATGAAGGAGGTGAAAGAATCTGTATGAGGAGAAGTGTAAAGCACTGCTAAAATAAATCAGAGGTGACACAAATAAATGGAAAAACACTCCATGCTCATGGATTGGAAGAATCAATATCGTTAAAATGGGAAATTTATCTTAATTTTTTTCCCTAGTTCATTTTTCTGTTTTCTTTTGCACATAAATTATGTGTTATGTTGCGTCCTTTTGTTTTCCCTATCTGTAATTTTCTTCTTCATCCTTTTAAACTCTTAGGTCTTTTTGTTTTGTTCTGTTTTCCCAAGC... | AAAAAAAGACAATGGAGTACCTAGGAATACGGCTGATGAAGGAGGTGAAAGAATCTGTATGAGGAGAAGTGTAAAGCACTGCTAAAATAAATCAGAGGTGACACAAATAAATGGAAAAACACTCCATGCTCATGGATTGGAAGAATCAATATCGTTAAAATGGGAAATTTATCTTAATTTTTTTCCCTAGTTCATTTTTCTGTTTTCTTTTGCACATAAATTATGTGTTATGTTGCGTCCTTTTGTTTTCCCTATCTGTAATTTTCTTCTTCATCCTTTTAAACTCTTAGGTCTTTTTGTTTTGTTCTGTTTTCCCAAGC... |
Task1_train_3353 | Gene SPAST (spastin) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Hereditary spastic paraplegia 4 | TCTCACCTTCCTTGCCATTCCTATGCTATCAATTAGGGTTTATATGGTCTGCAGAGCCAGGCTTCATATGCTTGTTTAAATGTGGAGGGACTGGCCTTATTACCCTTTAGGGTGTGCTATCTCTTTTTGGGAGGAAAACTGTACTCTGACAGTCATGTCCATGATCTTTAGCGGCAGATCCTTTGTGTGTCTTCCTTTGTCAGTGTAATTTTCACTGCCCTAGGCAGTTCACCTTTATGTATTTTAGTTCCATAAATGTTACCTAGTTTGTTGATGAAGTGTATGTTTCTGTTTCTATTATCCTTGCTGATTTTAGTTTT... | TCTCACCTTCCTTGCCATTCCTATGCTATCAATTAGGGTTTATATGGTCTGCAGAGCCAGGCTTCATATGCTTGTTTAAATGTGGAGGGACTGGCCTTATTACCCTTTAGGGTGTGCTATCTCTTTTTGGGAGGAAAACTGTACTCTGACAGTCATGTCCATGATCTTTAGCGGCAGATCCTTTGTGTGTCTTCCTTTGTCAGTGTAATTTTCACTGCCCTAGGCAGTTCACCTTTATGTATTTTAGTTCCATAAATGTTACCTAGTTTGTTGATGAAGTGTATGTTTCTGTTTCTATTATCCTTGCTGATTTTAGTTTT... |
Task1_train_3354 | A variant has been detected on Chromosome 2 in SPAST (spastin). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hereditary spastic paraplegia 4 | CTTGCCATTCCTATGCTATCAATTAGGGTTTATATGGTCTGCAGAGCCAGGCTTCATATGCTTGTTTAAATGTGGAGGGACTGGCCTTATTACCCTTTAGGGTGTGCTATCTCTTTTTGGGAGGAAAACTGTACTCTGACAGTCATGTCCATGATCTTTAGCGGCAGATCCTTTGTGTGTCTTCCTTTGTCAGTGTAATTTTCACTGCCCTAGGCAGTTCACCTTTATGTATTTTAGTTCCATAAATGTTACCTAGTTTGTTGATGAAGTGTATGTTTCTGTTTCTATTATCCTTGCTGATTTTAGTTTTTTTCAGATTC... | CTTGCCATTCCTATGCTATCAATTAGGGTTTATATGGTCTGCAGAGCCAGGCTTCATATGCTTGTTTAAATGTGGAGGGACTGGCCTTATTACCCTTTAGGGTGTGCTATCTCTTTTTGGGAGGAAAACTGTACTCTGACAGTCATGTCCATGATCTTTAGCGGCAGATCCTTTGTGTGTCTTCCTTTGTCAGTGTAATTTTCACTGCCCTAGGCAGTTCACCTTTATGTATTTTAGTTCCATAAATGTTACCTAGTTTGTTGATGAAGTGTATGTTTCTGTTTCTATTATCCTTGCTGATTTTAGTTTTTTTCAGATTC... |
Task1_train_3355 | This variant affects gene SPAST (spastin) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Hereditary spastic paraplegia 4 | CTTGCCATTCCTATGCTATCAATTAGGGTTTATATGGTCTGCAGAGCCAGGCTTCATATGCTTGTTTAAATGTGGAGGGACTGGCCTTATTACCCTTTAGGGTGTGCTATCTCTTTTTGGGAGGAAAACTGTACTCTGACAGTCATGTCCATGATCTTTAGCGGCAGATCCTTTGTGTGTCTTCCTTTGTCAGTGTAATTTTCACTGCCCTAGGCAGTTCACCTTTATGTATTTTAGTTCCATAAATGTTACCTAGTTTGTTGATGAAGTGTATGTTTCTGTTTCTATTATCCTTGCTGATTTTAGTTTTTTTCAGATTC... | CTTGCCATTCCTATGCTATCAATTAGGGTTTATATGGTCTGCAGAGCCAGGCTTCATATGCTTGTTTAAATGTGGAGGGACTGGCCTTATTACCCTTTAGGGTGTGCTATCTCTTTTTGGGAGGAAAACTGTACTCTGACAGTCATGTCCATGATCTTTAGCGGCAGATCCTTTGTGTGTCTTCCTTTGTCAGTGTAATTTTCACTGCCCTAGGCAGTTCACCTTTATGTATTTTAGTTCCATAAATGTTACCTAGTTTGTTGATGAAGTGTATGTTTCTGTTTCTATTATCCTTGCTGATTTTAGTTTTTTTCAGATTC... |
Task1_train_3356 | Consider this mutation in SPAST (spastin) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Hereditary spastic paraplegia 4 | CTTCATATGCTTGTTTAAATGTGGAGGGACTGGCCTTATTACCCTTTAGGGTGTGCTATCTCTTTTTGGGAGGAAAACTGTACTCTGACAGTCATGTCCATGATCTTTAGCGGCAGATCCTTTGTGTGTCTTCCTTTGTCAGTGTAATTTTCACTGCCCTAGGCAGTTCACCTTTATGTATTTTAGTTCCATAAATGTTACCTAGTTTGTTGATGAAGTGTATGTTTCTGTTTCTATTATCCTTGCTGATTTTAGTTTTTTTCAGATTCAAGAAGACAGATCTACTTATATCAGATATTTTGTTTGTTTTAAAGCATTAC... | CTTCATATGCTTGTTTAAATGTGGAGGGACTGGCCTTATTACCCTTTAGGGTGTGCTATCTCTTTTTGGGAGGAAAACTGTACTCTGACAGTCATGTCCATGATCTTTAGCGGCAGATCCTTTGTGTGTCTTCCTTTGTCAGTGTAATTTTCACTGCCCTAGGCAGTTCACCTTTATGTATTTTAGTTCCATAAATGTTACCTAGTTTGTTGATGAAGTGTATGTTTCTGTTTCTATTATCCTTGCTGATTTTAGTTTTTTTCAGATTCAAGAAGACAGATCTACTTATATCAGATATTTTGTTTGTTTTAAAGCATTAC... |
Task1_train_3357 | Given a variant located on Chromosome 2 and affecting SPAST (spastin), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Hereditary spastic paraplegia 4 | ATAAAACTGGTTTTTTGCAGCAAAATATTTATTGCTATGTTTTTATTCAAGTGTGGTGAATTATTGCTATGTTTTTATCCAGGTGTGGTGTCTCACGCCTATAATCCCAACACTTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCAGGAATTCAAGACCAGCCTGGGCAACATAGGGAGACCCTGTCTCTACAAAAACTTTTTTAGAAATTAACCAGGCATGGTGGCACGTGCCTTTGGTCCCAGTTACTCGGGAGGCTGAGATGGGAGGATTGCTTGAACCCAGGATATCGAGGCTATAGTGAGCTATGATTGTGCC... | ATAAAACTGGTTTTTTGCAGCAAAATATTTATTGCTATGTTTTTATTCAAGTGTGGTGAATTATTGCTATGTTTTTATCCAGGTGTGGTGTCTCACGCCTATAATCCCAACACTTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCAGGAATTCAAGACCAGCCTGGGCAACATAGGGAGACCCTGTCTCTACAAAAACTTTTTTAGAAATTAACCAGGCATGGTGGCACGTGCCTTTGGTCCCAGTTACTCGGGAGGCTGAGATGGGAGGATTGCTTGAACCCAGGATATCGAGGCTATAGTGAGCTATGATTGTGCC... |
Task1_train_3358 | This is a variant in SPAST (spastin), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Hereditary spastic paraplegia 4 | TAAAACTGGTTTTTTGCAGCAAAATATTTATTGCTATGTTTTTATTCAAGTGTGGTGAATTATTGCTATGTTTTTATCCAGGTGTGGTGTCTCACGCCTATAATCCCAACACTTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCAGGAATTCAAGACCAGCCTGGGCAACATAGGGAGACCCTGTCTCTACAAAAACTTTTTTAGAAATTAACCAGGCATGGTGGCACGTGCCTTTGGTCCCAGTTACTCGGGAGGCTGAGATGGGAGGATTGCTTGAACCCAGGATATCGAGGCTATAGTGAGCTATGATTGTGCCC... | TAAAACTGGTTTTTTGCAGCAAAATATTTATTGCTATGTTTTTATTCAAGTGTGGTGAATTATTGCTATGTTTTTATCCAGGTGTGGTGTCTCACGCCTATAATCCCAACACTTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCAGGAATTCAAGACCAGCCTGGGCAACATAGGGAGACCCTGTCTCTACAAAAACTTTTTTAGAAATTAACCAGGCATGGTGGCACGTGCCTTTGGTCCCAGTTACTCGGGAGGCTGAGATGGGAGGATTGCTTGAACCCAGGATATCGAGGCTATAGTGAGCTATGATTGTGCCC... |
Task1_train_3359 | A variant on Chromosome 2 in gene SPAST (spastin) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hereditary spastic paraplegia 4 | ATTGCTATGTTTTTATTCAAGTGTGGTGAATTATTGCTATGTTTTTATCCAGGTGTGGTGTCTCACGCCTATAATCCCAACACTTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCAGGAATTCAAGACCAGCCTGGGCAACATAGGGAGACCCTGTCTCTACAAAAACTTTTTTAGAAATTAACCAGGCATGGTGGCACGTGCCTTTGGTCCCAGTTACTCGGGAGGCTGAGATGGGAGGATTGCTTGAACCCAGGATATCGAGGCTATAGTGAGCTATGATTGTGCCCTGCACTCCAGCCTGGGTAACAGCACAAGA... | ATTGCTATGTTTTTATTCAAGTGTGGTGAATTATTGCTATGTTTTTATCCAGGTGTGGTGTCTCACGCCTATAATCCCAACACTTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCAGGAATTCAAGACCAGCCTGGGCAACATAGGGAGACCCTGTCTCTACAAAAACTTTTTTAGAAATTAACCAGGCATGGTGGCACGTGCCTTTGGTCCCAGTTACTCGGGAGGCTGAGATGGGAGGATTGCTTGAACCCAGGATATCGAGGCTATAGTGAGCTATGATTGTGCCCTGCACTCCAGCCTGGGTAACAGCACAAGA... |
Task1_train_3360 | This alteration in SPAST (spastin) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hereditary spastic paraplegia 4 | TTGCTATGTTTTTATTCAAGTGTGGTGAATTATTGCTATGTTTTTATCCAGGTGTGGTGTCTCACGCCTATAATCCCAACACTTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCAGGAATTCAAGACCAGCCTGGGCAACATAGGGAGACCCTGTCTCTACAAAAACTTTTTTAGAAATTAACCAGGCATGGTGGCACGTGCCTTTGGTCCCAGTTACTCGGGAGGCTGAGATGGGAGGATTGCTTGAACCCAGGATATCGAGGCTATAGTGAGCTATGATTGTGCCCTGCACTCCAGCCTGGGTAACAGCACAAGAC... | TTGCTATGTTTTTATTCAAGTGTGGTGAATTATTGCTATGTTTTTATCCAGGTGTGGTGTCTCACGCCTATAATCCCAACACTTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCAGGAATTCAAGACCAGCCTGGGCAACATAGGGAGACCCTGTCTCTACAAAAACTTTTTTAGAAATTAACCAGGCATGGTGGCACGTGCCTTTGGTCCCAGTTACTCGGGAGGCTGAGATGGGAGGATTGCTTGAACCCAGGATATCGAGGCTATAGTGAGCTATGATTGTGCCCTGCACTCCAGCCTGGGTAACAGCACAAGAC... |
Task1_train_3361 | A genetic alteration is present in SPAST (spastin) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hereditary spastic paraplegia 4 | AAGTGTGGTGAATTATTGCTATGTTTTTATCCAGGTGTGGTGTCTCACGCCTATAATCCCAACACTTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCAGGAATTCAAGACCAGCCTGGGCAACATAGGGAGACCCTGTCTCTACAAAAACTTTTTTAGAAATTAACCAGGCATGGTGGCACGTGCCTTTGGTCCCAGTTACTCGGGAGGCTGAGATGGGAGGATTGCTTGAACCCAGGATATCGAGGCTATAGTGAGCTATGATTGTGCCCTGCACTCCAGCCTGGGTAACAGCACAAGACCCTGTCTCAATATAAAA... | AAGTGTGGTGAATTATTGCTATGTTTTTATCCAGGTGTGGTGTCTCACGCCTATAATCCCAACACTTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCAGGAATTCAAGACCAGCCTGGGCAACATAGGGAGACCCTGTCTCTACAAAAACTTTTTTAGAAATTAACCAGGCATGGTGGCACGTGCCTTTGGTCCCAGTTACTCGGGAGGCTGAGATGGGAGGATTGCTTGAACCCAGGATATCGAGGCTATAGTGAGCTATGATTGTGCCCTGCACTCCAGCCTGGGTAACAGCACAAGACCCTGTCTCAATATAAAA... |
Task1_train_3362 | Given a variant located on Chromosome 2 and affecting SPAST (spastin), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Hereditary spastic paraplegia 4 | ATTCTCCCACCCAGCCTTCCCAGTAGCTGGGACTACAGGCATGCACCATCATGCCCAGATAATTATTTTATTTTATTTCTTGTAGAGACAGGGTTTCACCATGTTGCCCAAGCTGGTCTTGAACTCCCGGGCTCAAGTGAGCAGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCTTAAAACCATTCTTAGCTCACAGATCATACAAAAACAGTCTATGAGCCAGTAGACTGTGACCCCTGTTCTAGGCAAGAGGTTTCATTTCTTGATAGTAAGTAAGCAGCAGAAAACTCAAA... | ATTCTCCCACCCAGCCTTCCCAGTAGCTGGGACTACAGGCATGCACCATCATGCCCAGATAATTATTTTATTTTATTTCTTGTAGAGACAGGGTTTCACCATGTTGCCCAAGCTGGTCTTGAACTCCCGGGCTCAAGTGAGCAGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCTTAAAACCATTCTTAGCTCACAGATCATACAAAAACAGTCTATGAGCCAGTAGACTGTGACCCCTGTTCTAGGCAAGAGGTTTCATTTCTTGATAGTAAGTAAGCAGCAGAAAACTCAAA... |
Task1_train_3363 | A variant on Chromosome 2 in gene SPAST (spastin) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hereditary spastic paraplegia 4 | CATTGGATCCCTTGAGCTCAGGAATTCGAGACCAGCCTGGATAACATGGTGAAATCCTCATCTCTACAAAAATTACAAAAAGTTAGCTGGGCGTGGTGGCGCACACCTATAGTCCTAGCTACTTGGGAGGATCTCTTAAGCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTAACAGTGAGACCCTGTCTCAAAACAAAAATATTAATTTCTATAACAAATAAATTTTATTTAGTAATATCATGTTTAATACCCATGTTACATTCATTATTCTTCTACACTTTGGCCTTTAGGAA... | CATTGGATCCCTTGAGCTCAGGAATTCGAGACCAGCCTGGATAACATGGTGAAATCCTCATCTCTACAAAAATTACAAAAAGTTAGCTGGGCGTGGTGGCGCACACCTATAGTCCTAGCTACTTGGGAGGATCTCTTAAGCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTAACAGTGAGACCCTGTCTCAAAACAAAAATATTAATTTCTATAACAAATAAATTTTATTTAGTAATATCATGTTTAATACCCATGTTACATTCATTATTCTTCTACACTTTGGCCTTTAGGAA... |
Task1_train_3364 | Assess the clinical impact of this variant on gene NLRC4 (NLR family CARD domain containing 4), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Familial cold autoinflammatory syndrome 4 | AGGCAAAGGCTAAGTCATTCAGCTCTACGCTTAAAGAATAAACTGTCCTAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAACAGTTTGGAAGGTGGAGGCAGTAGAACTGCTTGATCCCAGGAGTTCAAGACCAGCCTGGGAAACATAGTGAGACCTCATCTCCCCATAAAAAATCAAACAATGAGGATCAACTGAGCCCAGGAGGTTGAGGCTGCAATGAGCTGTGATCGCACCACTGCACTCCCACCTGGGTGACAGAGCAAGACCCAACCTCGAAAAAAAAAAAAAATTTAAAAAGAATAAACTCTGTCGTAAC... | AGGCAAAGGCTAAGTCATTCAGCTCTACGCTTAAAGAATAAACTGTCCTAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAACAGTTTGGAAGGTGGAGGCAGTAGAACTGCTTGATCCCAGGAGTTCAAGACCAGCCTGGGAAACATAGTGAGACCTCATCTCCCCATAAAAAATCAAACAATGAGGATCAACTGAGCCCAGGAGGTTGAGGCTGCAATGAGCTGTGATCGCACCACTGCACTCCCACCTGGGTGACAGAGCAAGACCCAACCTCGAAAAAAAAAAAAAATTTAAAAAGAATAAACTCTGTCGTAAC... |
Task1_train_3365 | Here is a genetic alteration in NLRC4 (NLR family CARD domain containing 4) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Periodic fever-infantile enterocolitis-autoinflammatory syndrome | AGGCAAAGGCTAAGTCATTCAGCTCTACGCTTAAAGAATAAACTGTCCTAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAACAGTTTGGAAGGTGGAGGCAGTAGAACTGCTTGATCCCAGGAGTTCAAGACCAGCCTGGGAAACATAGTGAGACCTCATCTCCCCATAAAAAATCAAACAATGAGGATCAACTGAGCCCAGGAGGTTGAGGCTGCAATGAGCTGTGATCGCACCACTGCACTCCCACCTGGGTGACAGAGCAAGACCCAACCTCGAAAAAAAAAAAAAATTTAAAAAGAATAAACTCTGTCGTAAC... | AGGCAAAGGCTAAGTCATTCAGCTCTACGCTTAAAGAATAAACTGTCCTAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAACAGTTTGGAAGGTGGAGGCAGTAGAACTGCTTGATCCCAGGAGTTCAAGACCAGCCTGGGAAACATAGTGAGACCTCATCTCCCCATAAAAAATCAAACAATGAGGATCAACTGAGCCCAGGAGGTTGAGGCTGCAATGAGCTGTGATCGCACCACTGCACTCCCACCTGGGTGACAGAGCAAGACCCAACCTCGAAAAAAAAAAAAAATTTAAAAAGAATAAACTCTGTCGTAAC... |
Task1_train_3366 | The gene NLRC4 (NLR family CARD domain containing 4), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Familial cold autoinflammatory syndrome 4 | AACTCTGTCGTAACTGCCACAGATTTTTCTTCTTTGGTAGCTAAACAAGCATTGGTCTCAAGATAAGCAATATTGATAGTTGTGAATATTAAACAATTCGCAACTCATCCAGCTCACAAATGCTAACAATCCCTGTTCCATCTGCCATAACTACAGCTTTGATTGGAGAAGAGAGTGATTTCAGTAACTTTCTCCTGATCAGAGGACCACCAACCACAGACTGGTTCTGGCTGGTTTACAGAGATTGCGTACCTGCTTACCTTTGTGCTCTGAAAAGAACTTCTGAAGTATAGGCCTAATTGTAATACATTTAAATCATT... | AACTCTGTCGTAACTGCCACAGATTTTTCTTCTTTGGTAGCTAAACAAGCATTGGTCTCAAGATAAGCAATATTGATAGTTGTGAATATTAAACAATTCGCAACTCATCCAGCTCACAAATGCTAACAATCCCTGTTCCATCTGCCATAACTACAGCTTTGATTGGAGAAGAGAGTGATTTCAGTAACTTTCTCCTGATCAGAGGACCACCAACCACAGACTGGTTCTGGCTGGTTTACAGAGATTGCGTACCTGCTTACCTTTGTGCTCTGAAAAGAACTTCTGAAGTATAGGCCTAATTGTAATACATTTAAATCATT... |
Task1_train_3367 | A mutation in NLRC4 (NLR family CARD domain containing 4), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Periodic fever-infantile enterocolitis-autoinflammatory syndrome | AACTCTGTCGTAACTGCCACAGATTTTTCTTCTTTGGTAGCTAAACAAGCATTGGTCTCAAGATAAGCAATATTGATAGTTGTGAATATTAAACAATTCGCAACTCATCCAGCTCACAAATGCTAACAATCCCTGTTCCATCTGCCATAACTACAGCTTTGATTGGAGAAGAGAGTGATTTCAGTAACTTTCTCCTGATCAGAGGACCACCAACCACAGACTGGTTCTGGCTGGTTTACAGAGATTGCGTACCTGCTTACCTTTGTGCTCTGAAAAGAACTTCTGAAGTATAGGCCTAATTGTAATACATTTAAATCATT... | AACTCTGTCGTAACTGCCACAGATTTTTCTTCTTTGGTAGCTAAACAAGCATTGGTCTCAAGATAAGCAATATTGATAGTTGTGAATATTAAACAATTCGCAACTCATCCAGCTCACAAATGCTAACAATCCCTGTTCCATCTGCCATAACTACAGCTTTGATTGGAGAAGAGAGTGATTTCAGTAACTTTCTCCTGATCAGAGGACCACCAACCACAGACTGGTTCTGGCTGGTTTACAGAGATTGCGTACCTGCTTACCTTTGTGCTCTGAAAAGAACTTCTGAAGTATAGGCCTAATTGTAATACATTTAAATCATT... |
Task1_train_3368 | The gene NLRC4 (NLR family CARD domain containing 4) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4) | AACTCTGTCGTAACTGCCACAGATTTTTCTTCTTTGGTAGCTAAACAAGCATTGGTCTCAAGATAAGCAATATTGATAGTTGTGAATATTAAACAATTCGCAACTCATCCAGCTCACAAATGCTAACAATCCCTGTTCCATCTGCCATAACTACAGCTTTGATTGGAGAAGAGAGTGATTTCAGTAACTTTCTCCTGATCAGAGGACCACCAACCACAGACTGGTTCTGGCTGGTTTACAGAGATTGCGTACCTGCTTACCTTTGTGCTCTGAAAAGAACTTCTGAAGTATAGGCCTAATTGTAATACATTTAAATCATT... | AACTCTGTCGTAACTGCCACAGATTTTTCTTCTTTGGTAGCTAAACAAGCATTGGTCTCAAGATAAGCAATATTGATAGTTGTGAATATTAAACAATTCGCAACTCATCCAGCTCACAAATGCTAACAATCCCTGTTCCATCTGCCATAACTACAGCTTTGATTGGAGAAGAGAGTGATTTCAGTAACTTTCTCCTGATCAGAGGACCACCAACCACAGACTGGTTCTGGCTGGTTTACAGAGATTGCGTACCTGCTTACCTTTGTGCTCTGAAAAGAACTTCTGAAGTATAGGCCTAATTGTAATACATTTAAATCATT... |
Task1_train_3369 | Here is a mutation in NLRC4 (NLR family CARD domain containing 4) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Periodic fever-infantile enterocolitis-autoinflammatory syndrome | ACTCTGTCGTAACTGCCACAGATTTTTCTTCTTTGGTAGCTAAACAAGCATTGGTCTCAAGATAAGCAATATTGATAGTTGTGAATATTAAACAATTCGCAACTCATCCAGCTCACAAATGCTAACAATCCCTGTTCCATCTGCCATAACTACAGCTTTGATTGGAGAAGAGAGTGATTTCAGTAACTTTCTCCTGATCAGAGGACCACCAACCACAGACTGGTTCTGGCTGGTTTACAGAGATTGCGTACCTGCTTACCTTTGTGCTCTGAAAAGAACTTCTGAAGTATAGGCCTAATTGTAATACATTTAAATCATTT... | ACTCTGTCGTAACTGCCACAGATTTTTCTTCTTTGGTAGCTAAACAAGCATTGGTCTCAAGATAAGCAATATTGATAGTTGTGAATATTAAACAATTCGCAACTCATCCAGCTCACAAATGCTAACAATCCCTGTTCCATCTGCCATAACTACAGCTTTGATTGGAGAAGAGAGTGATTTCAGTAACTTTCTCCTGATCAGAGGACCACCAACCACAGACTGGTTCTGGCTGGTTTACAGAGATTGCGTACCTGCTTACCTTTGTGCTCTGAAAAGAACTTCTGAAGTATAGGCCTAATTGTAATACATTTAAATCATTT... |
Task1_train_3370 | The gene NLRC4 (NLR family CARD domain containing 4) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Periodic fever-infantile enterocolitis-autoinflammatory syndrome | ACTCTGTCGTAACTGCCACAGATTTTTCTTCTTTGGTAGCTAAACAAGCATTGGTCTCAAGATAAGCAATATTGATAGTTGTGAATATTAAACAATTCGCAACTCATCCAGCTCACAAATGCTAACAATCCCTGTTCCATCTGCCATAACTACAGCTTTGATTGGAGAAGAGAGTGATTTCAGTAACTTTCTCCTGATCAGAGGACCACCAACCACAGACTGGTTCTGGCTGGTTTACAGAGATTGCGTACCTGCTTACCTTTGTGCTCTGAAAAGAACTTCTGAAGTATAGGCCTAATTGTAATACATTTAAATCATTT... | ACTCTGTCGTAACTGCCACAGATTTTTCTTCTTTGGTAGCTAAACAAGCATTGGTCTCAAGATAAGCAATATTGATAGTTGTGAATATTAAACAATTCGCAACTCATCCAGCTCACAAATGCTAACAATCCCTGTTCCATCTGCCATAACTACAGCTTTGATTGGAGAAGAGAGTGATTTCAGTAACTTTCTCCTGATCAGAGGACCACCAACCACAGACTGGTTCTGGCTGGTTTACAGAGATTGCGTACCTGCTTACCTTTGTGCTCTGAAAAGAACTTCTGAAGTATAGGCCTAATTGTAATACATTTAAATCATTT... |
Task1_train_3371 | A mutation on Chromosome 2 affecting NLRC4 (NLR family CARD domain containing 4) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Familial cold autoinflammatory syndrome 4 | GTCGTAACTGCCACAGATTTTTCTTCTTTGGTAGCTAAACAAGCATTGGTCTCAAGATAAGCAATATTGATAGTTGTGAATATTAAACAATTCGCAACTCATCCAGCTCACAAATGCTAACAATCCCTGTTCCATCTGCCATAACTACAGCTTTGATTGGAGAAGAGAGTGATTTCAGTAACTTTCTCCTGATCAGAGGACCACCAACCACAGACTGGTTCTGGCTGGTTTACAGAGATTGCGTACCTGCTTACCTTTGTGCTCTGAAAAGAACTTCTGAAGTATAGGCCTAATTGTAATACATTTAAATCATTTAAAGG... | GTCGTAACTGCCACAGATTTTTCTTCTTTGGTAGCTAAACAAGCATTGGTCTCAAGATAAGCAATATTGATAGTTGTGAATATTAAACAATTCGCAACTCATCCAGCTCACAAATGCTAACAATCCCTGTTCCATCTGCCATAACTACAGCTTTGATTGGAGAAGAGAGTGATTTCAGTAACTTTCTCCTGATCAGAGGACCACCAACCACAGACTGGTTCTGGCTGGTTTACAGAGATTGCGTACCTGCTTACCTTTGTGCTCTGAAAAGAACTTCTGAAGTATAGGCCTAATTGTAATACATTTAAATCATTTAAAGG... |
Task1_train_3372 | This mutation is located in gene NLRC4 (NLR family CARD domain containing 4) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Familial cold autoinflammatory syndrome 4 | CTGCCACAGATTTTTCTTCTTTGGTAGCTAAACAAGCATTGGTCTCAAGATAAGCAATATTGATAGTTGTGAATATTAAACAATTCGCAACTCATCCAGCTCACAAATGCTAACAATCCCTGTTCCATCTGCCATAACTACAGCTTTGATTGGAGAAGAGAGTGATTTCAGTAACTTTCTCCTGATCAGAGGACCACCAACCACAGACTGGTTCTGGCTGGTTTACAGAGATTGCGTACCTGCTTACCTTTGTGCTCTGAAAAGAACTTCTGAAGTATAGGCCTAATTGTAATACATTTAAATCATTTAAAGGGGTGTAC... | CTGCCACAGATTTTTCTTCTTTGGTAGCTAAACAAGCATTGGTCTCAAGATAAGCAATATTGATAGTTGTGAATATTAAACAATTCGCAACTCATCCAGCTCACAAATGCTAACAATCCCTGTTCCATCTGCCATAACTACAGCTTTGATTGGAGAAGAGAGTGATTTCAGTAACTTTCTCCTGATCAGAGGACCACCAACCACAGACTGGTTCTGGCTGGTTTACAGAGATTGCGTACCTGCTTACCTTTGTGCTCTGAAAAGAACTTCTGAAGTATAGGCCTAATTGTAATACATTTAAATCATTTAAAGGGGTGTAC... |
Task1_train_3373 | The gene NLRC4 (NLR family CARD domain containing 4) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Periodic fever-infantile enterocolitis-autoinflammatory syndrome | CTGCCACAGATTTTTCTTCTTTGGTAGCTAAACAAGCATTGGTCTCAAGATAAGCAATATTGATAGTTGTGAATATTAAACAATTCGCAACTCATCCAGCTCACAAATGCTAACAATCCCTGTTCCATCTGCCATAACTACAGCTTTGATTGGAGAAGAGAGTGATTTCAGTAACTTTCTCCTGATCAGAGGACCACCAACCACAGACTGGTTCTGGCTGGTTTACAGAGATTGCGTACCTGCTTACCTTTGTGCTCTGAAAAGAACTTCTGAAGTATAGGCCTAATTGTAATACATTTAAATCATTTAAAGGGGTGTAC... | CTGCCACAGATTTTTCTTCTTTGGTAGCTAAACAAGCATTGGTCTCAAGATAAGCAATATTGATAGTTGTGAATATTAAACAATTCGCAACTCATCCAGCTCACAAATGCTAACAATCCCTGTTCCATCTGCCATAACTACAGCTTTGATTGGAGAAGAGAGTGATTTCAGTAACTTTCTCCTGATCAGAGGACCACCAACCACAGACTGGTTCTGGCTGGTTTACAGAGATTGCGTACCTGCTTACCTTTGTGCTCTGAAAAGAACTTCTGAAGTATAGGCCTAATTGTAATACATTTAAATCATTTAAAGGGGTGTAC... |
Task1_train_3374 | Consider this mutation in CYP1B1 (cytochrome P450 family 1 subfamily B member 1) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Glaucoma 3A | AGAATGAGTGGGAAAATGTTTAACCATCTTTCCTTCTTTTCAGTGTTTCTCTCTTTTCTCTTACCATCCCCCCACCCCACACACACATACACACAACTATCAAAAACTCCCTTTTTTAAAATTTTGGTACAAAGATTCCAAAAAGCTTAATAAAATGTAATAAGCACTTAGCACTTAGGACACTGTAGAACTTTCTTTGGAAGTTTAATTGCAATGAACTTTAAAACTTGAAACTTCAATTCACTTTTCTAAATGTGAATGCATACATTTCATTTGAGCTTTATGCTTTCCCAGCTACCAAAGTAATTGCCATCTTAAAA... | AGAATGAGTGGGAAAATGTTTAACCATCTTTCCTTCTTTTCAGTGTTTCTCTCTTTTCTCTTACCATCCCCCCACCCCACACACACATACACACAACTATCAAAAACTCCCTTTTTTAAAATTTTGGTACAAAGATTCCAAAAAGCTTAATAAAATGTAATAAGCACTTAGCACTTAGGACACTGTAGAACTTTCTTTGGAAGTTTAATTGCAATGAACTTTAAAACTTGAAACTTCAATTCACTTTTCTAAATGTGAATGCATACATTTCATTTGAGCTTTATGCTTTCCCAGCTACCAAAGTAATTGCCATCTTAAAA... |
Task1_train_3375 | This sequence change occurs on Chromosome 2, altering CYP1B1, LOC128772254 (cytochrome P450 family 1 subfamily B member 1| melanoma risk locus-associated MPRA allelic enhancer 2:38298139). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Anterior segment dysgenesis 6 | TTCTCTTACCATCCCCCCACCCCACACACACATACACACAACTATCAAAAACTCCCTTTTTTAAAATTTTGGTACAAAGATTCCAAAAAGCTTAATAAAATGTAATAAGCACTTAGCACTTAGGACACTGTAGAACTTTCTTTGGAAGTTTAATTGCAATGAACTTTAAAACTTGAAACTTCAATTCACTTTTCTAAATGTGAATGCATACATTTCATTTGAGCTTTATGCTTTCCCAGCTACCAAAGTAATTGCCATCTTAAAAAACACAACTGACCTCATCTCCACTGTCTTTTCCAAACAGCTTCCAAGACTATCTT... | TTCTCTTACCATCCCCCCACCCCACACACACATACACACAACTATCAAAAACTCCCTTTTTTAAAATTTTGGTACAAAGATTCCAAAAAGCTTAATAAAATGTAATAAGCACTTAGCACTTAGGACACTGTAGAACTTTCTTTGGAAGTTTAATTGCAATGAACTTTAAAACTTGAAACTTCAATTCACTTTTCTAAATGTGAATGCATACATTTCATTTGAGCTTTATGCTTTCCCAGCTACCAAAGTAATTGCCATCTTAAAAAACACAACTGACCTCATCTCCACTGTCTTTTCCAAACAGCTTCCAAGACTATCTT... |
Task1_train_3376 | With a mutation on Chromosome 2 in gene CYP1B1, LOC128772254 (cytochrome P450 family 1 subfamily B member 1| melanoma risk locus-associated MPRA allelic enhancer 2:38298139), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Primary congenital glaucoma | TTCTCTTACCATCCCCCCACCCCACACACACATACACACAACTATCAAAAACTCCCTTTTTTAAAATTTTGGTACAAAGATTCCAAAAAGCTTAATAAAATGTAATAAGCACTTAGCACTTAGGACACTGTAGAACTTTCTTTGGAAGTTTAATTGCAATGAACTTTAAAACTTGAAACTTCAATTCACTTTTCTAAATGTGAATGCATACATTTCATTTGAGCTTTATGCTTTCCCAGCTACCAAAGTAATTGCCATCTTAAAAAACACAACTGACCTCATCTCCACTGTCTTTTCCAAACAGCTTCCAAGACTATCTT... | TTCTCTTACCATCCCCCCACCCCACACACACATACACACAACTATCAAAAACTCCCTTTTTTAAAATTTTGGTACAAAGATTCCAAAAAGCTTAATAAAATGTAATAAGCACTTAGCACTTAGGACACTGTAGAACTTTCTTTGGAAGTTTAATTGCAATGAACTTTAAAACTTGAAACTTCAATTCACTTTTCTAAATGTGAATGCATACATTTCATTTGAGCTTTATGCTTTCCCAGCTACCAAAGTAATTGCCATCTTAAAAAACACAACTGACCTCATCTCCACTGTCTTTTCCAAACAGCTTCCAAGACTATCTT... |
Task1_train_3377 | A mutation in CYP1B1, LOC128772254 (cytochrome P450 family 1 subfamily B member 1| melanoma risk locus-associated MPRA allelic enhancer 2:38298139), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Congenital glaucoma | TTCTCTTACCATCCCCCCACCCCACACACACATACACACAACTATCAAAAACTCCCTTTTTTAAAATTTTGGTACAAAGATTCCAAAAAGCTTAATAAAATGTAATAAGCACTTAGCACTTAGGACACTGTAGAACTTTCTTTGGAAGTTTAATTGCAATGAACTTTAAAACTTGAAACTTCAATTCACTTTTCTAAATGTGAATGCATACATTTCATTTGAGCTTTATGCTTTCCCAGCTACCAAAGTAATTGCCATCTTAAAAAACACAACTGACCTCATCTCCACTGTCTTTTCCAAACAGCTTCCAAGACTATCTT... | TTCTCTTACCATCCCCCCACCCCACACACACATACACACAACTATCAAAAACTCCCTTTTTTAAAATTTTGGTACAAAGATTCCAAAAAGCTTAATAAAATGTAATAAGCACTTAGCACTTAGGACACTGTAGAACTTTCTTTGGAAGTTTAATTGCAATGAACTTTAAAACTTGAAACTTCAATTCACTTTTCTAAATGTGAATGCATACATTTCATTTGAGCTTTATGCTTTCCCAGCTACCAAAGTAATTGCCATCTTAAAAAACACAACTGACCTCATCTCCACTGTCTTTTCCAAACAGCTTCCAAGACTATCTT... |
Task1_train_3378 | Gene CYP1B1, LOC128772254 (cytochrome P450 family 1 subfamily B member 1| melanoma risk locus-associated MPRA allelic enhancer 2:38298139) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Anterior segment dysgenesis 6 | TTCTCTTACCATCCCCCCACCCCACACACACATACACACAACTATCAAAAACTCCCTTTTTTAAAATTTTGGTACAAAGATTCCAAAAAGCTTAATAAAATGTAATAAGCACTTAGCACTTAGGACACTGTAGAACTTTCTTTGGAAGTTTAATTGCAATGAACTTTAAAACTTGAAACTTCAATTCACTTTTCTAAATGTGAATGCATACATTTCATTTGAGCTTTATGCTTTCCCAGCTACCAAAGTAATTGCCATCTTAAAAAACACAACTGACCTCATCTCCACTGTCTTTTCCAAACAGCTTCCAAGACTATCTT... | TTCTCTTACCATCCCCCCACCCCACACACACATACACACAACTATCAAAAACTCCCTTTTTTAAAATTTTGGTACAAAGATTCCAAAAAGCTTAATAAAATGTAATAAGCACTTAGCACTTAGGACACTGTAGAACTTTCTTTGGAAGTTTAATTGCAATGAACTTTAAAACTTGAAACTTCAATTCACTTTTCTAAATGTGAATGCATACATTTCATTTGAGCTTTATGCTTTCCCAGCTACCAAAGTAATTGCCATCTTAAAAAACACAACTGACCTCATCTCCACTGTCTTTTCCAAACAGCTTCCAAGACTATCTT... |
Task1_train_3379 | A genetic alteration is present in CYP1B1, LOC128772254 (cytochrome P450 family 1 subfamily B member 1| melanoma risk locus-associated MPRA allelic enhancer 2:38298139) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Glaucoma 3A | TTCTCTTACCATCCCCCCACCCCACACACACATACACACAACTATCAAAAACTCCCTTTTTTAAAATTTTGGTACAAAGATTCCAAAAAGCTTAATAAAATGTAATAAGCACTTAGCACTTAGGACACTGTAGAACTTTCTTTGGAAGTTTAATTGCAATGAACTTTAAAACTTGAAACTTCAATTCACTTTTCTAAATGTGAATGCATACATTTCATTTGAGCTTTATGCTTTCCCAGCTACCAAAGTAATTGCCATCTTAAAAAACACAACTGACCTCATCTCCACTGTCTTTTCCAAACAGCTTCCAAGACTATCTT... | TTCTCTTACCATCCCCCCACCCCACACACACATACACACAACTATCAAAAACTCCCTTTTTTAAAATTTTGGTACAAAGATTCCAAAAAGCTTAATAAAATGTAATAAGCACTTAGCACTTAGGACACTGTAGAACTTTCTTTGGAAGTTTAATTGCAATGAACTTTAAAACTTGAAACTTCAATTCACTTTTCTAAATGTGAATGCATACATTTCATTTGAGCTTTATGCTTTCCCAGCTACCAAAGTAATTGCCATCTTAAAAAACACAACTGACCTCATCTCCACTGTCTTTTCCAAACAGCTTCCAAGACTATCTT... |
Task1_train_3380 | This genomic variant is located on Chromosome 2, within the CYP1B1, LOC128772254 (cytochrome P450 family 1 subfamily B member 1| melanoma risk locus-associated MPRA allelic enhancer 2:38298139) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Glaucoma 3A | TTCTCTTACCATCCCCCCACCCCACACACACATACACACAACTATCAAAAACTCCCTTTTTTAAAATTTTGGTACAAAGATTCCAAAAAGCTTAATAAAATGTAATAAGCACTTAGCACTTAGGACACTGTAGAACTTTCTTTGGAAGTTTAATTGCAATGAACTTTAAAACTTGAAACTTCAATTCACTTTTCTAAATGTGAATGCATACATTTCATTTGAGCTTTATGCTTTCCCAGCTACCAAAGTAATTGCCATCTTAAAAAACACAACTGACCTCATCTCCACTGTCTTTTCCAAACAGCTTCCAAGACTATCTT... | TTCTCTTACCATCCCCCCACCCCACACACACATACACACAACTATCAAAAACTCCCTTTTTTAAAATTTTGGTACAAAGATTCCAAAAAGCTTAATAAAATGTAATAAGCACTTAGCACTTAGGACACTGTAGAACTTTCTTTGGAAGTTTAATTGCAATGAACTTTAAAACTTGAAACTTCAATTCACTTTTCTAAATGTGAATGCATACATTTCATTTGAGCTTTATGCTTTCCCAGCTACCAAAGTAATTGCCATCTTAAAAAACACAACTGACCTCATCTCCACTGTCTTTTCCAAACAGCTTCCAAGACTATCTT... |
Task1_train_3381 | A mutation in CYP1B1, LOC128772254 (cytochrome P450 family 1 subfamily B member 1| melanoma risk locus-associated MPRA allelic enhancer 2:38298139), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Congenital glaucoma | CAAAGATTCCAAAAAGCTTAATAAAATGTAATAAGCACTTAGCACTTAGGACACTGTAGAACTTTCTTTGGAAGTTTAATTGCAATGAACTTTAAAACTTGAAACTTCAATTCACTTTTCTAAATGTGAATGCATACATTTCATTTGAGCTTTATGCTTTCCCAGCTACCAAAGTAATTGCCATCTTAAAAAACACAACTGACCTCATCTCCACTGTCTTTTCCAAACAGCTTCCAAGACTATCTTCTGATTCTGACTTTCCAAAAAGCAGGCATTAATGTTAACTTTCAAAAAATCATCTAGAAGAGAAACTTGGTCAG... | CAAAGATTCCAAAAAGCTTAATAAAATGTAATAAGCACTTAGCACTTAGGACACTGTAGAACTTTCTTTGGAAGTTTAATTGCAATGAACTTTAAAACTTGAAACTTCAATTCACTTTTCTAAATGTGAATGCATACATTTCATTTGAGCTTTATGCTTTCCCAGCTACCAAAGTAATTGCCATCTTAAAAAACACAACTGACCTCATCTCCACTGTCTTTTCCAAACAGCTTCCAAGACTATCTTCTGATTCTGACTTTCCAAAAAGCAGGCATTAATGTTAACTTTCAAAAAATCATCTAGAAGAGAAACTTGGTCAG... |
Task1_train_3382 | A genomic change on Chromosome 2 affects CYP1B1, LOC128772254 (cytochrome P450 family 1 subfamily B member 1| melanoma risk locus-associated MPRA allelic enhancer 2:38298139). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Anterior segment dysgenesis 6 | CAAAGATTCCAAAAAGCTTAATAAAATGTAATAAGCACTTAGCACTTAGGACACTGTAGAACTTTCTTTGGAAGTTTAATTGCAATGAACTTTAAAACTTGAAACTTCAATTCACTTTTCTAAATGTGAATGCATACATTTCATTTGAGCTTTATGCTTTCCCAGCTACCAAAGTAATTGCCATCTTAAAAAACACAACTGACCTCATCTCCACTGTCTTTTCCAAACAGCTTCCAAGACTATCTTCTGATTCTGACTTTCCAAAAAGCAGGCATTAATGTTAACTTTCAAAAAATCATCTAGAAGAGAAACTTGGTCAG... | CAAAGATTCCAAAAAGCTTAATAAAATGTAATAAGCACTTAGCACTTAGGACACTGTAGAACTTTCTTTGGAAGTTTAATTGCAATGAACTTTAAAACTTGAAACTTCAATTCACTTTTCTAAATGTGAATGCATACATTTCATTTGAGCTTTATGCTTTCCCAGCTACCAAAGTAATTGCCATCTTAAAAAACACAACTGACCTCATCTCCACTGTCTTTTCCAAACAGCTTCCAAGACTATCTTCTGATTCTGACTTTCCAAAAAGCAGGCATTAATGTTAACTTTCAAAAAATCATCTAGAAGAGAAACTTGGTCAG... |
Task1_train_3383 | A mutation in CYP1B1, LOC128772254 (cytochrome P450 family 1 subfamily B member 1| melanoma risk locus-associated MPRA allelic enhancer 2:38298139), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Glaucoma 3A | CAAAGATTCCAAAAAGCTTAATAAAATGTAATAAGCACTTAGCACTTAGGACACTGTAGAACTTTCTTTGGAAGTTTAATTGCAATGAACTTTAAAACTTGAAACTTCAATTCACTTTTCTAAATGTGAATGCATACATTTCATTTGAGCTTTATGCTTTCCCAGCTACCAAAGTAATTGCCATCTTAAAAAACACAACTGACCTCATCTCCACTGTCTTTTCCAAACAGCTTCCAAGACTATCTTCTGATTCTGACTTTCCAAAAAGCAGGCATTAATGTTAACTTTCAAAAAATCATCTAGAAGAGAAACTTGGTCAG... | CAAAGATTCCAAAAAGCTTAATAAAATGTAATAAGCACTTAGCACTTAGGACACTGTAGAACTTTCTTTGGAAGTTTAATTGCAATGAACTTTAAAACTTGAAACTTCAATTCACTTTTCTAAATGTGAATGCATACATTTCATTTGAGCTTTATGCTTTCCCAGCTACCAAAGTAATTGCCATCTTAAAAAACACAACTGACCTCATCTCCACTGTCTTTTCCAAACAGCTTCCAAGACTATCTTCTGATTCTGACTTTCCAAAAAGCAGGCATTAATGTTAACTTTCAAAAAATCATCTAGAAGAGAAACTTGGTCAG... |
Task1_train_3384 | A mutation found in CYP1B1, LOC128772254 (cytochrome P450 family 1 subfamily B member 1| melanoma risk locus-associated MPRA allelic enhancer 2:38298139) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Anterior segment dysgenesis 6 | CAAAGATTCCAAAAAGCTTAATAAAATGTAATAAGCACTTAGCACTTAGGACACTGTAGAACTTTCTTTGGAAGTTTAATTGCAATGAACTTTAAAACTTGAAACTTCAATTCACTTTTCTAAATGTGAATGCATACATTTCATTTGAGCTTTATGCTTTCCCAGCTACCAAAGTAATTGCCATCTTAAAAAACACAACTGACCTCATCTCCACTGTCTTTTCCAAACAGCTTCCAAGACTATCTTCTGATTCTGACTTTCCAAAAAGCAGGCATTAATGTTAACTTTCAAAAAATCATCTAGAAGAGAAACTTGGTCAG... | CAAAGATTCCAAAAAGCTTAATAAAATGTAATAAGCACTTAGCACTTAGGACACTGTAGAACTTTCTTTGGAAGTTTAATTGCAATGAACTTTAAAACTTGAAACTTCAATTCACTTTTCTAAATGTGAATGCATACATTTCATTTGAGCTTTATGCTTTCCCAGCTACCAAAGTAATTGCCATCTTAAAAAACACAACTGACCTCATCTCCACTGTCTTTTCCAAACAGCTTCCAAGACTATCTTCTGATTCTGACTTTCCAAAAAGCAGGCATTAATGTTAACTTTCAAAAAATCATCTAGAAGAGAAACTTGGTCAG... |
Task1_train_3385 | Consider a variant on Chromosome 2 in gene CYP1B1 (cytochrome P450 family 1 subfamily B member 1). Determine its clinical classification and disease relevance. | Pathogenic; Congenital glaucoma | AGCTACCAAAGTAATTGCCATCTTAAAAAACACAACTGACCTCATCTCCACTGTCTTTTCCAAACAGCTTCCAAGACTATCTTCTGATTCTGACTTTCCAAAAAGCAGGCATTAATGTTAACTTTCAAAAAATCATCTAGAAGAGAAACTTGGTCAGTTGTAATGGGAGTTCTGTCCCCAACTCTTGTCACCTCGTAAAAAGAACATCCAGGTAATTCATGGCATTTTCCATTATTCATTGGGCAGACACAGCTTAGATTTCTCTGCCTTCCACAGGAGAATGTTCAGATTTCCACTAACTTCAACTGGAACTCAATAAT... | AGCTACCAAAGTAATTGCCATCTTAAAAAACACAACTGACCTCATCTCCACTGTCTTTTCCAAACAGCTTCCAAGACTATCTTCTGATTCTGACTTTCCAAAAAGCAGGCATTAATGTTAACTTTCAAAAAATCATCTAGAAGAGAAACTTGGTCAGTTGTAATGGGAGTTCTGTCCCCAACTCTTGTCACCTCGTAAAAAGAACATCCAGGTAATTCATGGCATTTTCCATTATTCATTGGGCAGACACAGCTTAGATTTCTCTGCCTTCCACAGGAGAATGTTCAGATTTCCACTAACTTCAACTGGAACTCAATAAT... |
Task1_train_3386 | Given this variant in gene CYP1B1 (cytochrome P450 family 1 subfamily B member 1) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Anterior segment dysgenesis 6 | AGCTACCAAAGTAATTGCCATCTTAAAAAACACAACTGACCTCATCTCCACTGTCTTTTCCAAACAGCTTCCAAGACTATCTTCTGATTCTGACTTTCCAAAAAGCAGGCATTAATGTTAACTTTCAAAAAATCATCTAGAAGAGAAACTTGGTCAGTTGTAATGGGAGTTCTGTCCCCAACTCTTGTCACCTCGTAAAAAGAACATCCAGGTAATTCATGGCATTTTCCATTATTCATTGGGCAGACACAGCTTAGATTTCTCTGCCTTCCACAGGAGAATGTTCAGATTTCCACTAACTTCAACTGGAACTCAATAAT... | AGCTACCAAAGTAATTGCCATCTTAAAAAACACAACTGACCTCATCTCCACTGTCTTTTCCAAACAGCTTCCAAGACTATCTTCTGATTCTGACTTTCCAAAAAGCAGGCATTAATGTTAACTTTCAAAAAATCATCTAGAAGAGAAACTTGGTCAGTTGTAATGGGAGTTCTGTCCCCAACTCTTGTCACCTCGTAAAAAGAACATCCAGGTAATTCATGGCATTTTCCATTATTCATTGGGCAGACACAGCTTAGATTTCTCTGCCTTCCACAGGAGAATGTTCAGATTTCCACTAACTTCAACTGGAACTCAATAAT... |
Task1_train_3387 | Mutation context: Chromosome 2, Gene CYP1B1 (cytochrome P450 family 1 subfamily B member 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Primary congenital glaucoma | AGCTACCAAAGTAATTGCCATCTTAAAAAACACAACTGACCTCATCTCCACTGTCTTTTCCAAACAGCTTCCAAGACTATCTTCTGATTCTGACTTTCCAAAAAGCAGGCATTAATGTTAACTTTCAAAAAATCATCTAGAAGAGAAACTTGGTCAGTTGTAATGGGAGTTCTGTCCCCAACTCTTGTCACCTCGTAAAAAGAACATCCAGGTAATTCATGGCATTTTCCATTATTCATTGGGCAGACACAGCTTAGATTTCTCTGCCTTCCACAGGAGAATGTTCAGATTTCCACTAACTTCAACTGGAACTCAATAAT... | AGCTACCAAAGTAATTGCCATCTTAAAAAACACAACTGACCTCATCTCCACTGTCTTTTCCAAACAGCTTCCAAGACTATCTTCTGATTCTGACTTTCCAAAAAGCAGGCATTAATGTTAACTTTCAAAAAATCATCTAGAAGAGAAACTTGGTCAGTTGTAATGGGAGTTCTGTCCCCAACTCTTGTCACCTCGTAAAAAGAACATCCAGGTAATTCATGGCATTTTCCATTATTCATTGGGCAGACACAGCTTAGATTTCTCTGCCTTCCACAGGAGAATGTTCAGATTTCCACTAACTTCAACTGGAACTCAATAAT... |
Task1_train_3388 | A variant was discovered on Chromosome 2, affecting CYP1B1 (cytochrome P450 family 1 subfamily B member 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Glaucoma 3A | ACTATCTTCTGATTCTGACTTTCCAAAAAGCAGGCATTAATGTTAACTTTCAAAAAATCATCTAGAAGAGAAACTTGGTCAGTTGTAATGGGAGTTCTGTCCCCAACTCTTGTCACCTCGTAAAAAGAACATCCAGGTAATTCATGGCATTTTCCATTATTCATTGGGCAGACACAGCTTAGATTTCTCTGCCTTCCACAGGAGAATGTTCAGATTTCCACTAACTTCAACTGGAACTCAATAATCAGAATGGCTTTAAAATTTAGTTAAAATTTAAGCATGCCATGAATTTGGAATTTTAATATATTAATTAGGTTATT... | ACTATCTTCTGATTCTGACTTTCCAAAAAGCAGGCATTAATGTTAACTTTCAAAAAATCATCTAGAAGAGAAACTTGGTCAGTTGTAATGGGAGTTCTGTCCCCAACTCTTGTCACCTCGTAAAAAGAACATCCAGGTAATTCATGGCATTTTCCATTATTCATTGGGCAGACACAGCTTAGATTTCTCTGCCTTCCACAGGAGAATGTTCAGATTTCCACTAACTTCAACTGGAACTCAATAATCAGAATGGCTTTAAAATTTAGTTAAAATTTAAGCATGCCATGAATTTGGAATTTTAATATATTAATTAGGTTATT... |
Task1_train_3389 | A variant was discovered in gene CYP1B1 (cytochrome P450 family 1 subfamily B member 1), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Anterior segment dysgenesis 6 | ATCTTCTGATTCTGACTTTCCAAAAAGCAGGCATTAATGTTAACTTTCAAAAAATCATCTAGAAGAGAAACTTGGTCAGTTGTAATGGGAGTTCTGTCCCCAACTCTTGTCACCTCGTAAAAAGAACATCCAGGTAATTCATGGCATTTTCCATTATTCATTGGGCAGACACAGCTTAGATTTCTCTGCCTTCCACAGGAGAATGTTCAGATTTCCACTAACTTCAACTGGAACTCAATAATCAGAATGGCTTTAAAATTTAGTTAAAATTTAAGCATGCCATGAATTTGGAATTTTAATATATTAATTAGGTTATTTTC... | ATCTTCTGATTCTGACTTTCCAAAAAGCAGGCATTAATGTTAACTTTCAAAAAATCATCTAGAAGAGAAACTTGGTCAGTTGTAATGGGAGTTCTGTCCCCAACTCTTGTCACCTCGTAAAAAGAACATCCAGGTAATTCATGGCATTTTCCATTATTCATTGGGCAGACACAGCTTAGATTTCTCTGCCTTCCACAGGAGAATGTTCAGATTTCCACTAACTTCAACTGGAACTCAATAATCAGAATGGCTTTAAAATTTAGTTAAAATTTAAGCATGCCATGAATTTGGAATTTTAATATATTAATTAGGTTATTTTC... |
Task1_train_3390 | Here is a mutation in CYP1B1 (cytochrome P450 family 1 subfamily B member 1) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Primary congenital glaucoma | ATCTTCTGATTCTGACTTTCCAAAAAGCAGGCATTAATGTTAACTTTCAAAAAATCATCTAGAAGAGAAACTTGGTCAGTTGTAATGGGAGTTCTGTCCCCAACTCTTGTCACCTCGTAAAAAGAACATCCAGGTAATTCATGGCATTTTCCATTATTCATTGGGCAGACACAGCTTAGATTTCTCTGCCTTCCACAGGAGAATGTTCAGATTTCCACTAACTTCAACTGGAACTCAATAATCAGAATGGCTTTAAAATTTAGTTAAAATTTAAGCATGCCATGAATTTGGAATTTTAATATATTAATTAGGTTATTTTC... | ATCTTCTGATTCTGACTTTCCAAAAAGCAGGCATTAATGTTAACTTTCAAAAAATCATCTAGAAGAGAAACTTGGTCAGTTGTAATGGGAGTTCTGTCCCCAACTCTTGTCACCTCGTAAAAAGAACATCCAGGTAATTCATGGCATTTTCCATTATTCATTGGGCAGACACAGCTTAGATTTCTCTGCCTTCCACAGGAGAATGTTCAGATTTCCACTAACTTCAACTGGAACTCAATAATCAGAATGGCTTTAAAATTTAGTTAAAATTTAAGCATGCCATGAATTTGGAATTTTAATATATTAATTAGGTTATTTTC... |
Task1_train_3391 | This alteration in CYP1B1 (cytochrome P450 family 1 subfamily B member 1) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Congenital glaucoma | ATCTTCTGATTCTGACTTTCCAAAAAGCAGGCATTAATGTTAACTTTCAAAAAATCATCTAGAAGAGAAACTTGGTCAGTTGTAATGGGAGTTCTGTCCCCAACTCTTGTCACCTCGTAAAAAGAACATCCAGGTAATTCATGGCATTTTCCATTATTCATTGGGCAGACACAGCTTAGATTTCTCTGCCTTCCACAGGAGAATGTTCAGATTTCCACTAACTTCAACTGGAACTCAATAATCAGAATGGCTTTAAAATTTAGTTAAAATTTAAGCATGCCATGAATTTGGAATTTTAATATATTAATTAGGTTATTTTC... | ATCTTCTGATTCTGACTTTCCAAAAAGCAGGCATTAATGTTAACTTTCAAAAAATCATCTAGAAGAGAAACTTGGTCAGTTGTAATGGGAGTTCTGTCCCCAACTCTTGTCACCTCGTAAAAAGAACATCCAGGTAATTCATGGCATTTTCCATTATTCATTGGGCAGACACAGCTTAGATTTCTCTGCCTTCCACAGGAGAATGTTCAGATTTCCACTAACTTCAACTGGAACTCAATAATCAGAATGGCTTTAAAATTTAGTTAAAATTTAAGCATGCCATGAATTTGGAATTTTAATATATTAATTAGGTTATTTTC... |
Task1_train_3392 | A variant on Chromosome 2 in gene CYP1B1 (cytochrome P450 family 1 subfamily B member 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Glaucoma 3A | ATCTTCTGATTCTGACTTTCCAAAAAGCAGGCATTAATGTTAACTTTCAAAAAATCATCTAGAAGAGAAACTTGGTCAGTTGTAATGGGAGTTCTGTCCCCAACTCTTGTCACCTCGTAAAAAGAACATCCAGGTAATTCATGGCATTTTCCATTATTCATTGGGCAGACACAGCTTAGATTTCTCTGCCTTCCACAGGAGAATGTTCAGATTTCCACTAACTTCAACTGGAACTCAATAATCAGAATGGCTTTAAAATTTAGTTAAAATTTAAGCATGCCATGAATTTGGAATTTTAATATATTAATTAGGTTATTTTC... | ATCTTCTGATTCTGACTTTCCAAAAAGCAGGCATTAATGTTAACTTTCAAAAAATCATCTAGAAGAGAAACTTGGTCAGTTGTAATGGGAGTTCTGTCCCCAACTCTTGTCACCTCGTAAAAAGAACATCCAGGTAATTCATGGCATTTTCCATTATTCATTGGGCAGACACAGCTTAGATTTCTCTGCCTTCCACAGGAGAATGTTCAGATTTCCACTAACTTCAACTGGAACTCAATAATCAGAATGGCTTTAAAATTTAGTTAAAATTTAAGCATGCCATGAATTTGGAATTTTAATATATTAATTAGGTTATTTTC... |
Task1_train_3393 | This variant affects gene CYP1B1 (cytochrome P450 family 1 subfamily B member 1) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Anterior segment dysgenesis 6 | ATCTTCTGATTCTGACTTTCCAAAAAGCAGGCATTAATGTTAACTTTCAAAAAATCATCTAGAAGAGAAACTTGGTCAGTTGTAATGGGAGTTCTGTCCCCAACTCTTGTCACCTCGTAAAAAGAACATCCAGGTAATTCATGGCATTTTCCATTATTCATTGGGCAGACACAGCTTAGATTTCTCTGCCTTCCACAGGAGAATGTTCAGATTTCCACTAACTTCAACTGGAACTCAATAATCAGAATGGCTTTAAAATTTAGTTAAAATTTAAGCATGCCATGAATTTGGAATTTTAATATATTAATTAGGTTATTTTC... | ATCTTCTGATTCTGACTTTCCAAAAAGCAGGCATTAATGTTAACTTTCAAAAAATCATCTAGAAGAGAAACTTGGTCAGTTGTAATGGGAGTTCTGTCCCCAACTCTTGTCACCTCGTAAAAAGAACATCCAGGTAATTCATGGCATTTTCCATTATTCATTGGGCAGACACAGCTTAGATTTCTCTGCCTTCCACAGGAGAATGTTCAGATTTCCACTAACTTCAACTGGAACTCAATAATCAGAATGGCTTTAAAATTTAGTTAAAATTTAAGCATGCCATGAATTTGGAATTTTAATATATTAATTAGGTTATTTTC... |
Task1_train_3394 | This alteration in CYP1B1 (cytochrome P450 family 1 subfamily B member 1) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Anterior segment dysgenesis 6 | AAAACAAGTAACTGATTGTTTGCAACTCCGAAAAAAAATGTATACACGTATGTGATGAAGTGGAGTTATTTTTAGAATCGCTTCTTCAACATTATATTGCAGGAGTCTGCCAACTTTTTTCATAGAAACATGTATGGTGGGGAGAGCCAGAGAGTATCTATTTTAGACTTTGTGGACCAAACCCTCTTTGTTGCACTACTCTGCTCTGCCTTGTGTTGTAGAGTGAACGCAGCCATCGACAATGTATAAATGAATGGGCATGACTGCGTCAATAAAACGTATATACAAAAACAGATCGTGTAATTTGCCAAGCCCTGTCA... | AAAACAAGTAACTGATTGTTTGCAACTCCGAAAAAAAATGTATACACGTATGTGATGAAGTGGAGTTATTTTTAGAATCGCTTCTTCAACATTATATTGCAGGAGTCTGCCAACTTTTTTCATAGAAACATGTATGGTGGGGAGAGCCAGAGAGTATCTATTTTAGACTTTGTGGACCAAACCCTCTTTGTTGCACTACTCTGCTCTGCCTTGTGTTGTAGAGTGAACGCAGCCATCGACAATGTATAAATGAATGGGCATGACTGCGTCAATAAAACGTATATACAAAAACAGATCGTGTAATTTGCCAAGCCCTGTCA... |
Task1_train_3395 | A change on Chromosome 2 affects gene CYP1B1 (cytochrome P450 family 1 subfamily B member 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Primary congenital glaucoma | CATTATATTGCAGGAGTCTGCCAACTTTTTTCATAGAAACATGTATGGTGGGGAGAGCCAGAGAGTATCTATTTTAGACTTTGTGGACCAAACCCTCTTTGTTGCACTACTCTGCTCTGCCTTGTGTTGTAGAGTGAACGCAGCCATCGACAATGTATAAATGAATGGGCATGACTGCGTCAATAAAACGTATATACAAAAACAGATCGTGTAATTTGCCAAGCCCTGTCATACGTCTTTTCACTAAAAAGGAAAAAAAAAGTATCAGCATATTGAATTGAAAGTGACCTCCAAATTGTTTTATTTCTTTTTGCCGCCTA... | CATTATATTGCAGGAGTCTGCCAACTTTTTTCATAGAAACATGTATGGTGGGGAGAGCCAGAGAGTATCTATTTTAGACTTTGTGGACCAAACCCTCTTTGTTGCACTACTCTGCTCTGCCTTGTGTTGTAGAGTGAACGCAGCCATCGACAATGTATAAATGAATGGGCATGACTGCGTCAATAAAACGTATATACAAAAACAGATCGTGTAATTTGCCAAGCCCTGTCATACGTCTTTTCACTAAAAAGGAAAAAAAAAGTATCAGCATATTGAATTGAAAGTGACCTCCAAATTGTTTTATTTCTTTTTGCCGCCTA... |
Task1_train_3396 | A sequence alteration has been identified in CYP1B1 (cytochrome P450 family 1 subfamily B member 1) on Chromosome 2. Is it disease-inducing or harmless? | Pathogenic; Congenital glaucoma | CGTCAATAAAACGTATATACAAAAACAGATCGTGTAATTTGCCAAGCCCTGTCATACGTCTTTTCACTAAAAAGGAAAAAAAAAGTATCAGCATATTGAATTGAAAGTGACCTCCAAATTGTTTTATTTCTTTTTGCCGCCTAATTGGAGTACTCGGAGAACTATTGTGGTTCTAATGAAAAACAAAGGCCGTTTCAAAAGTTAAAATGCCTATCTGCGGATGCACAAAAACCTATGGAACCTATTCCGGGATTTCCTTTTCCCTGATCTCTGGTTGACTTTTCTTTATTCGATTTCTGCCTCTCCCTCACCCACCATGG... | CGTCAATAAAACGTATATACAAAAACAGATCGTGTAATTTGCCAAGCCCTGTCATACGTCTTTTCACTAAAAAGGAAAAAAAAAGTATCAGCATATTGAATTGAAAGTGACCTCCAAATTGTTTTATTTCTTTTTGCCGCCTAATTGGAGTACTCGGAGAACTATTGTGGTTCTAATGAAAAACAAAGGCCGTTTCAAAAGTTAAAATGCCTATCTGCGGATGCACAAAAACCTATGGAACCTATTCCGGGATTTCCTTTTCCCTGATCTCTGGTTGACTTTTCTTTATTCGATTTCTGCCTCTCCCTCACCCACCATGG... |
Task1_train_3397 | Gene CYP1B1 (cytochrome P450 family 1 subfamily B member 1), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Glaucoma 3A | CGTCAATAAAACGTATATACAAAAACAGATCGTGTAATTTGCCAAGCCCTGTCATACGTCTTTTCACTAAAAAGGAAAAAAAAAGTATCAGCATATTGAATTGAAAGTGACCTCCAAATTGTTTTATTTCTTTTTGCCGCCTAATTGGAGTACTCGGAGAACTATTGTGGTTCTAATGAAAAACAAAGGCCGTTTCAAAAGTTAAAATGCCTATCTGCGGATGCACAAAAACCTATGGAACCTATTCCGGGATTTCCTTTTCCCTGATCTCTGGTTGACTTTTCTTTATTCGATTTCTGCCTCTCCCTCACCCACCATGG... | CGTCAATAAAACGTATATACAAAAACAGATCGTGTAATTTGCCAAGCCCTGTCATACGTCTTTTCACTAAAAAGGAAAAAAAAAGTATCAGCATATTGAATTGAAAGTGACCTCCAAATTGTTTTATTTCTTTTTGCCGCCTAATTGGAGTACTCGGAGAACTATTGTGGTTCTAATGAAAAACAAAGGCCGTTTCAAAAGTTAAAATGCCTATCTGCGGATGCACAAAAACCTATGGAACCTATTCCGGGATTTCCTTTTCCCTGATCTCTGGTTGACTTTTCTTTATTCGATTTCTGCCTCTCCCTCACCCACCATGG... |
Task1_train_3398 | This sequence change occurs on Chromosome 2, altering CYP1B1 (cytochrome P450 family 1 subfamily B member 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Anterior segment dysgenesis 6 | CGTCAATAAAACGTATATACAAAAACAGATCGTGTAATTTGCCAAGCCCTGTCATACGTCTTTTCACTAAAAAGGAAAAAAAAAGTATCAGCATATTGAATTGAAAGTGACCTCCAAATTGTTTTATTTCTTTTTGCCGCCTAATTGGAGTACTCGGAGAACTATTGTGGTTCTAATGAAAAACAAAGGCCGTTTCAAAAGTTAAAATGCCTATCTGCGGATGCACAAAAACCTATGGAACCTATTCCGGGATTTCCTTTTCCCTGATCTCTGGTTGACTTTTCTTTATTCGATTTCTGCCTCTCCCTCACCCACCATGG... | CGTCAATAAAACGTATATACAAAAACAGATCGTGTAATTTGCCAAGCCCTGTCATACGTCTTTTCACTAAAAAGGAAAAAAAAAGTATCAGCATATTGAATTGAAAGTGACCTCCAAATTGTTTTATTTCTTTTTGCCGCCTAATTGGAGTACTCGGAGAACTATTGTGGTTCTAATGAAAAACAAAGGCCGTTTCAAAAGTTAAAATGCCTATCTGCGGATGCACAAAAACCTATGGAACCTATTCCGGGATTTCCTTTTCCCTGATCTCTGGTTGACTTTTCTTTATTCGATTTCTGCCTCTCCCTCACCCACCATGG... |
Task1_train_3399 | Given this context: Chromosome 2, gene CYP1B1 (cytochrome P450 family 1 subfamily B member 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Anterior segment dysgenesis 6 | CGTCAATAAAACGTATATACAAAAACAGATCGTGTAATTTGCCAAGCCCTGTCATACGTCTTTTCACTAAAAAGGAAAAAAAAAGTATCAGCATATTGAATTGAAAGTGACCTCCAAATTGTTTTATTTCTTTTTGCCGCCTAATTGGAGTACTCGGAGAACTATTGTGGTTCTAATGAAAAACAAAGGCCGTTTCAAAAGTTAAAATGCCTATCTGCGGATGCACAAAAACCTATGGAACCTATTCCGGGATTTCCTTTTCCCTGATCTCTGGTTGACTTTTCTTTATTCGATTTCTGCCTCTCCCTCACCCACCATGG... | CGTCAATAAAACGTATATACAAAAACAGATCGTGTAATTTGCCAAGCCCTGTCATACGTCTTTTCACTAAAAAGGAAAAAAAAAGTATCAGCATATTGAATTGAAAGTGACCTCCAAATTGTTTTATTTCTTTTTGCCGCCTAATTGGAGTACTCGGAGAACTATTGTGGTTCTAATGAAAAACAAAGGCCGTTTCAAAAGTTAAAATGCCTATCTGCGGATGCACAAAAACCTATGGAACCTATTCCGGGATTTCCTTTTCCCTGATCTCTGGTTGACTTTTCTTTATTCGATTTCTGCCTCTCCCTCACCCACCATGG... |
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