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 |
|---|---|---|---|---|
Task1_train_1600 | Gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Gaucher disease type I | GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCT... | GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCT... |
Task1_train_1601 | The following genetic variant occurs in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Gaucher disease type II | GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCT... | GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCT... |
Task1_train_1602 | A variant was discovered in gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Gaucher disease type III | GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCT... | GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCT... |
Task1_train_1603 | This genomic variant is located on Chromosome 1, within the GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Lewy body dementia | GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCT... | GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCT... |
Task1_train_1604 | A change on Chromosome 1 affects gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Parkinson disease, late-onset | GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCT... | GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCT... |
Task1_train_1605 | Here is a variant affecting GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Gaucher disease perinatal lethal | GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCT... | GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCT... |
Task1_train_1606 | This alteration occurs within gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; not specified | GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCT... | GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCT... |
Task1_train_1607 | Chromosome 1 houses a mutation in gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Lewy body dementia | GGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATT... | GGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATT... |
Task1_train_1608 | A variant affecting Chromosome 1, within the gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Gaucher disease type II | GGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATT... | GGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATT... |
Task1_train_1609 | A mutation in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Gaucher disease | ATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCT... | ATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCT... |
Task1_train_1610 | Here is a variant affecting GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Gaucher disease type I | ATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTA... | ATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTA... |
Task1_train_1611 | Located on Chromosome 1, this mutation impacts GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Gaucher disease | CCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCA... | CCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCA... |
Task1_train_1612 | A variant was discovered in gene LOC106627981, GBA1 (GBA recombination region| glucosylceramidase beta 1), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Gaucher disease perinatal lethal | ATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGAT... | ATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGAT... |
Task1_train_1613 | A mutation in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Parkinson disease, late-onset | CTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCT... | CTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCT... |
Task1_train_1614 | This variant affects gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Gaucher disease perinatal lethal | TGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGA... | TGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGA... |
Task1_train_1615 | A genetic alteration is present in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Gaucher disease type I | CCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCT... | CCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCT... |
Task1_train_1616 | Gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTG... | CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTG... |
Task1_train_1617 | Gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Gaucher disease type I | CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTG... | CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTG... |
Task1_train_1618 | This is a variant in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Gaucher disease type II | CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTG... | CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTG... |
Task1_train_1619 | This sequence variant lies in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Gaucher disease type III | CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTG... | CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTG... |
Task1_train_1620 | The gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Gaucher disease perinatal lethal | CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTG... | CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTG... |
Task1_train_1621 | A variant affecting Chromosome 1, within the gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTG... | CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTG... |
Task1_train_1622 | A change on Chromosome 1 affects gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Gaucher disease type I | CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTG... | CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTG... |
Task1_train_1623 | Chromosome 1 houses a mutation in gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Gaucher disease type II | CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTG... | CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTG... |
Task1_train_1624 | Here’s a variant in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Gaucher disease type III | CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTG... | CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTG... |
Task1_train_1625 | Consider this mutation in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Gaucher disease type III | CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTG... | CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTG... |
Task1_train_1626 | Consider a variant on Chromosome 1 in gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). Determine its clinical classification and disease relevance. | Pathogenic; Gaucher disease type II | AGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCT... | AGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCT... |
Task1_train_1627 | The variant affects gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Gaucher disease type I | ATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTAC... | ATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTAC... |
Task1_train_1628 | Gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not specified | CCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAG... | CCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAG... |
Task1_train_1629 | A mutation in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Gaucher disease type I | TTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGA... | TTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGA... |
Task1_train_1630 | Here is a mutation in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Gaucher disease | TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGT... | TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGT... |
Task1_train_1631 | A genetic alteration is present in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; GBA1-related disorder | TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGT... | TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGT... |
Task1_train_1632 | Located on Chromosome 1, this mutation impacts GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Gaucher disease type I | TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGT... | TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGT... |
Task1_train_1633 | This sequence change occurs on Chromosome 1, altering GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGT... | TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGT... |
Task1_train_1634 | Consider a variant on Chromosome 1 in gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). Determine its clinical classification and disease relevance. | Pathogenic; Gaucher disease type I | TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGT... | TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGT... |
Task1_train_1635 | Assess the clinical impact of this variant on gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Gaucher disease type II | TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGT... | TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGT... |
Task1_train_1636 | A variant was discovered in gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Gaucher disease type III | TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGT... | TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGT... |
Task1_train_1637 | The gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGT... | TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGT... |
Task1_train_1638 | A genetic alteration is present in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Gaucher disease type I | TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGT... | TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGT... |
Task1_train_1639 | Located on Chromosome 1, this mutation impacts GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Gaucher disease type II | TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGT... | TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGT... |
Task1_train_1640 | Given a variant located on Chromosome 1 and affecting GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Gaucher disease type III | TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGT... | TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGT... |
Task1_train_1641 | This alteration occurs within gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Lewy body dementia | TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGT... | TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGT... |
Task1_train_1642 | This sequence change occurs on Chromosome 1, altering GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Parkinson disease, late-onset | TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGT... | TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGT... |
Task1_train_1643 | A variant has been detected on Chromosome 1 in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Gaucher disease perinatal lethal | TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGT... | TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGT... |
Task1_train_1644 | Assess the clinical impact of this variant on gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Parkinson disease, late-onset | TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGT... | TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGT... |
Task1_train_1645 | This is a variant in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Gaucher disease perinatal lethal | CCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTA... | CCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTA... |
Task1_train_1646 | With a mutation on Chromosome 1 in gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Gaucher disease type I | TGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAG... | TGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAG... |
Task1_train_1647 | Mutation context: Chromosome 1, Gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | CTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCA... | CTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCA... |
Task1_train_1648 | This genomic variant is located on Chromosome 1, within the GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Gaucher disease | GGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAG... | GGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAG... |
Task1_train_1649 | Given a variant located on Chromosome 1 and affecting GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Gaucher disease type I | GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAA... | GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAA... |
Task1_train_1650 | The gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Gaucher disease type II | GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAA... | GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAA... |
Task1_train_1651 | Assess the clinical impact of this variant on gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAA... | GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAA... |
Task1_train_1652 | This gene mutation involves GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Gaucher disease type I | GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAA... | GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAA... |
Task1_train_1653 | Consider this mutation in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Gaucher disease type II | GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAA... | GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAA... |
Task1_train_1654 | Here is a variant affecting GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Gaucher disease type III | GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAA... | GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAA... |
Task1_train_1655 | A genetic alteration is present in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAA... | GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAA... |
Task1_train_1656 | Assess the clinical impact of this variant on gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Gaucher disease type I | GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAA... | GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAA... |
Task1_train_1657 | The gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Gaucher disease type II | GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAA... | GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAA... |
Task1_train_1658 | This variant affects the gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Gaucher disease type III | GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAA... | GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAA... |
Task1_train_1659 | The variant affects gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Lewy body dementia | GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAA... | GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAA... |
Task1_train_1660 | A variant was discovered on Chromosome 1, affecting GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Parkinson disease, late-onset | GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAA... | GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAA... |
Task1_train_1661 | Located on Chromosome 1, this mutation impacts GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Gaucher disease perinatal lethal | GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAA... | GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAA... |
Task1_train_1662 | Here’s a variant in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Gaucher disease | GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAA... | GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAA... |
Task1_train_1663 | The gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Gaucher disease type I | TGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCC... | TGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCC... |
Task1_train_1664 | The gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Gaucher disease | GTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTG... | GTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTG... |
Task1_train_1665 | A mutation in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Gaucher disease type I | GTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTG... | GTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTG... |
Task1_train_1666 | The gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Gaucher disease type II | GTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTG... | GTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTG... |
Task1_train_1667 | Consider this mutation in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Gaucher disease type III | GTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTG... | GTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTG... |
Task1_train_1668 | A genomic change on Chromosome 1 affects GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | GTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTG... | GTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTG... |
Task1_train_1669 | A mutation found in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Gaucher disease type I | AGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTC... | AGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTC... |
Task1_train_1670 | Here’s a variant in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Gaucher disease | TTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAG... | TTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAG... |
Task1_train_1671 | A mutation in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Gaucher disease | AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTC... | AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTC... |
Task1_train_1672 | This variant lies on Chromosome 1 and affects the gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Parkinson disease, late-onset | AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTC... | AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTC... |
Task1_train_1673 | A variant was discovered in gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Gaucher disease type I | AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTC... | AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTC... |
Task1_train_1674 | A genomic change on Chromosome 1 affects GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; See cases | AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTC... | AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTC... |
Task1_train_1675 | This variant affects gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Lewy body dementia | AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTC... | AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTC... |
Task1_train_1676 | A sequence alteration has been identified in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Lewy body dementia | AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTC... | AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTC... |
Task1_train_1677 | This variant affects gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTC... | AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTC... |
Task1_train_1678 | Gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Parkinson disease, late-onset | AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTC... | AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTC... |
Task1_train_1679 | The gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Gaucher disease perinatal lethal | AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTC... | AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTC... |
Task1_train_1680 | This alteration occurs within gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Gaucher disease type I | AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTC... | AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTC... |
Task1_train_1681 | Located on Chromosome 1, this mutation impacts GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Gaucher disease type II | AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTC... | AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTC... |
Task1_train_1682 | Gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Gaucher disease type III | AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTC... | AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTC... |
Task1_train_1683 | The gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Gaucher disease | GAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGC... | GAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGC... |
Task1_train_1684 | This variant impacts the gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; Gaucher disease type I | ACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGT... | ACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGT... |
Task1_train_1685 | Mutation context: Chromosome 1, Gene PKLR (pyruvate kinase L/R). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Pyruvate kinase deficiency of red cells | CCAGGACCCTAAGTCTCCTTTCCTTCTGGGTGGGGAGTTCTGGGGTTCTTGGTGTGTGGGAGAAGTTTTATAATTGCTTCCAAACAGCTGGGTTTAAATATAAAATAGACACACTCATTTTTGGCTCTTGGTTTGTGTGTGGGAACAACATGAGTGGGAAGGAATTTCTGGGTGCAGAAGGAAGCAGCCGGGGATTTGACCAAGCAGGGTATCAGGCAGGCATGAGAGCAGCCAGGACAGTGGTCTACAAGCCCAGCACGGAGGTTGTGAAGACAGTGACAAAATCAGCTGCCCAGCCCTCACTTCTCCCCAGCATCCAT... | CCAGGACCCTAAGTCTCCTTTCCTTCTGGGTGGGGAGTTCTGGGGTTCTTGGTGTGTGGGAGAAGTTTTATAATTGCTTCCAAACAGCTGGGTTTAAATATAAAATAGACACACTCATTTTTGGCTCTTGGTTTGTGTGTGGGAACAACATGAGTGGGAAGGAATTTCTGGGTGCAGAAGGAAGCAGCCGGGGATTTGACCAAGCAGGGTATCAGGCAGGCATGAGAGCAGCCAGGACAGTGGTCTACAAGCCCAGCACGGAGGTTGTGAAGACAGTGACAAAATCAGCTGCCCAGCCCTCACTTCTCCCCAGCATCCAT... |
Task1_train_1686 | This gene mutation involves PKLR (pyruvate kinase L/R) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; PKLR-related disorder | CCAGGACCCTAAGTCTCCTTTCCTTCTGGGTGGGGAGTTCTGGGGTTCTTGGTGTGTGGGAGAAGTTTTATAATTGCTTCCAAACAGCTGGGTTTAAATATAAAATAGACACACTCATTTTTGGCTCTTGGTTTGTGTGTGGGAACAACATGAGTGGGAAGGAATTTCTGGGTGCAGAAGGAAGCAGCCGGGGATTTGACCAAGCAGGGTATCAGGCAGGCATGAGAGCAGCCAGGACAGTGGTCTACAAGCCCAGCACGGAGGTTGTGAAGACAGTGACAAAATCAGCTGCCCAGCCCTCACTTCTCCCCAGCATCCAT... | CCAGGACCCTAAGTCTCCTTTCCTTCTGGGTGGGGAGTTCTGGGGTTCTTGGTGTGTGGGAGAAGTTTTATAATTGCTTCCAAACAGCTGGGTTTAAATATAAAATAGACACACTCATTTTTGGCTCTTGGTTTGTGTGTGGGAACAACATGAGTGGGAAGGAATTTCTGGGTGCAGAAGGAAGCAGCCGGGGATTTGACCAAGCAGGGTATCAGGCAGGCATGAGAGCAGCCAGGACAGTGGTCTACAAGCCCAGCACGGAGGTTGTGAAGACAGTGACAAAATCAGCTGCCCAGCCCTCACTTCTCCCCAGCATCCAT... |
Task1_train_1687 | This gene mutation involves PKLR (pyruvate kinase L/R) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Pyruvate kinase deficiency of red cells | TTTTATAATTGCTTCCAAACAGCTGGGTTTAAATATAAAATAGACACACTCATTTTTGGCTCTTGGTTTGTGTGTGGGAACAACATGAGTGGGAAGGAATTTCTGGGTGCAGAAGGAAGCAGCCGGGGATTTGACCAAGCAGGGTATCAGGCAGGCATGAGAGCAGCCAGGACAGTGGTCTACAAGCCCAGCACGGAGGTTGTGAAGACAGTGACAAAATCAGCTGCCCAGCCCTCACTTCTCCCCAGCATCCATCCCACCCAGTTTTCCCAAAAGCGTGGACTTTCATGTAACTGTTAGTCACCATGAAGGGGTAGCCT... | TTTTATAATTGCTTCCAAACAGCTGGGTTTAAATATAAAATAGACACACTCATTTTTGGCTCTTGGTTTGTGTGTGGGAACAACATGAGTGGGAAGGAATTTCTGGGTGCAGAAGGAAGCAGCCGGGGATTTGACCAAGCAGGGTATCAGGCAGGCATGAGAGCAGCCAGGACAGTGGTCTACAAGCCCAGCACGGAGGTTGTGAAGACAGTGACAAAATCAGCTGCCCAGCCCTCACTTCTCCCCAGCATCCATCCCACCCAGTTTTCCCAAAAGCGTGGACTTTCATGTAACTGTTAGTCACCATGAAGGGGTAGCCT... |
Task1_train_1688 | A variant affecting Chromosome 1, within the gene PKLR (pyruvate kinase L/R), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | ACACTCATTTTTGGCTCTTGGTTTGTGTGTGGGAACAACATGAGTGGGAAGGAATTTCTGGGTGCAGAAGGAAGCAGCCGGGGATTTGACCAAGCAGGGTATCAGGCAGGCATGAGAGCAGCCAGGACAGTGGTCTACAAGCCCAGCACGGAGGTTGTGAAGACAGTGACAAAATCAGCTGCCCAGCCCTCACTTCTCCCCAGCATCCATCCCACCCAGTTTTCCCAAAAGCGTGGACTTTCATGTAACTGTTAGTCACCATGAAGGGGTAGCCTGCCCTGGCACGAGATGCCCAGATTATCATGAGGGCTACATATGAG... | ACACTCATTTTTGGCTCTTGGTTTGTGTGTGGGAACAACATGAGTGGGAAGGAATTTCTGGGTGCAGAAGGAAGCAGCCGGGGATTTGACCAAGCAGGGTATCAGGCAGGCATGAGAGCAGCCAGGACAGTGGTCTACAAGCCCAGCACGGAGGTTGTGAAGACAGTGACAAAATCAGCTGCCCAGCCCTCACTTCTCCCCAGCATCCATCCCACCCAGTTTTCCCAAAAGCGTGGACTTTCATGTAACTGTTAGTCACCATGAAGGGGTAGCCTGCCCTGGCACGAGATGCCCAGATTATCATGAGGGCTACATATGAG... |
Task1_train_1689 | This sequence variant lies in PKLR (pyruvate kinase L/R) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Pyruvate kinase deficiency of red cells | CATCCTGTAGGGAATGAGGCAGTGAAGTATGTCCCACGGGTGGCATGCAGGGAATGTGACCACTGCAGTATATTAAAGGTGTAAGAGATGCCAGCACGGTGGCTGACGCCTGTAATCCCAGCACTCTGGGAGTCCGAGGCGGGCGGATCACGTGGTCAAGACATTGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCCAGGCGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCACTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGA... | CATCCTGTAGGGAATGAGGCAGTGAAGTATGTCCCACGGGTGGCATGCAGGGAATGTGACCACTGCAGTATATTAAAGGTGTAAGAGATGCCAGCACGGTGGCTGACGCCTGTAATCCCAGCACTCTGGGAGTCCGAGGCGGGCGGATCACGTGGTCAAGACATTGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCCAGGCGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCACTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGA... |
Task1_train_1690 | This variant affects the gene PKLR (pyruvate kinase L/R) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Pyruvate kinase deficiency of red cells | AGGTGGGAGAATCACTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGATCGTACCCCTGCACTCCAGCCTGGCGACAGAGCAAGACTCTCTCTCAAAAAAAAAAAAAGGTGCAGGAGTATCTGTGGGCTAGGGCAGAGTGTGTTGCTAAGTAGCACGGCCGTCTGCCTGTGTGGCTATGCTGATGGAAGAGGTATTTGTGATATGCCAGACTGATATCTCAGTCTTAGTGACTCTCACAGGGAAAACCTGGGACCACAGGAGAGAGGCAAGGCCCTTTGAGTGGGTATGGGAAGCTGGGTTGGGGGGCTCCTGATAC... | AGGTGGGAGAATCACTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGATCGTACCCCTGCACTCCAGCCTGGCGACAGAGCAAGACTCTCTCTCAAAAAAAAAAAAAGGTGCAGGAGTATCTGTGGGCTAGGGCAGAGTGTGTTGCTAAGTAGCACGGCCGTCTGCCTGTGTGGCTATGCTGATGGAAGAGGTATTTGTGATATGCCAGACTGATATCTCAGTCTTAGTGACTCTCACAGGGAAAACCTGGGACCACAGGAGAGAGGCAAGGCCCTTTGAGTGGGTATGGGAAGCTGGGTTGGGGGGCTCCTGATAC... |
Task1_train_1691 | An alteration has been detected in PKLR (pyruvate kinase L/R) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | GGTGCAGGAGTATCTGTGGGCTAGGGCAGAGTGTGTTGCTAAGTAGCACGGCCGTCTGCCTGTGTGGCTATGCTGATGGAAGAGGTATTTGTGATATGCCAGACTGATATCTCAGTCTTAGTGACTCTCACAGGGAAAACCTGGGACCACAGGAGAGAGGCAAGGCCCTTTGAGTGGGTATGGGAAGCTGGGTTGGGGGGCTCCTGATACAAATGGTAGGAGTGGCAGGGAAGGTCTAGGTAGCTCACCACTTTCAATGCCAAATTGCACCCGGCGATCTACATCATCTGCCCAGATGGCTTCTGGAGGTTCACGGTAAA... | GGTGCAGGAGTATCTGTGGGCTAGGGCAGAGTGTGTTGCTAAGTAGCACGGCCGTCTGCCTGTGTGGCTATGCTGATGGAAGAGGTATTTGTGATATGCCAGACTGATATCTCAGTCTTAGTGACTCTCACAGGGAAAACCTGGGACCACAGGAGAGAGGCAAGGCCCTTTGAGTGGGTATGGGAAGCTGGGTTGGGGGGCTCCTGATACAAATGGTAGGAGTGGCAGGGAAGGTCTAGGTAGCTCACCACTTTCAATGCCAAATTGCACCCGGCGATCTACATCATCTGCCCAGATGGCTTCTGGAGGTTCACGGTAAA... |
Task1_train_1692 | This mutation is located in gene PKLR (pyruvate kinase L/R) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | AACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGG... | AACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGG... |
Task1_train_1693 | Assess the clinical impact of this variant on gene PKLR (pyruvate kinase L/R), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | CCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCA... | CCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCA... |
Task1_train_1694 | A variant affecting Chromosome 1, within the gene PKLR (pyruvate kinase L/R), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Pyruvate kinase deficiency of red cells | AGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTT... | AGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTT... |
Task1_train_1695 | A variant found in Chromosome 1 affects PKLR (pyruvate kinase L/R). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | CAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCT... | CAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCT... |
Task1_train_1696 | This variant affects the gene PKLR (pyruvate kinase L/R) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Pyruvate kinase deficiency of red cells | GTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCA... | GTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCA... |
Task1_train_1697 | A sequence alteration has been identified in PKLR (pyruvate kinase L/R) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Pyruvate kinase deficiency of red cells | TCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAA... | TCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAA... |
Task1_train_1698 | This variant affects the gene PKLR (pyruvate kinase L/R) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Pyruvate kinase hyperactivity | ACGGGGTTTCACCATGTTGGCCAGGATGGTATCGATCTCTTGACCTCGTGATCAGTCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAAACACCACGCCTGGCCTTTTTTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGGGTGCAATGGCACGATCTTGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGCCCGGATAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGAGGCTGG... | ACGGGGTTTCACCATGTTGGCCAGGATGGTATCGATCTCTTGACCTCGTGATCAGTCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAAACACCACGCCTGGCCTTTTTTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGGGTGCAATGGCACGATCTTGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGCCCGGATAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGAGGCTGG... |
Task1_train_1699 | Given a variant located on Chromosome 1 and affecting FDPS, RUSC1-AS1 (farnesyl diphosphate synthase| RUSC1 antisense RNA 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Porokeratosis 9, multiple types | AATAAAAATTAAAACCTGGGTATAGGGCCGGGTGCATTGGCTCACACTTAAAATCCCAGCACTTTGGGAGGCCAAGGTGGATGGATCACGTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCTTGTCTCTACTAAAAACACAAAAATTAGCCGGGTGTGATGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCGTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGACAATGAGAGTGAAACTCCATCTCAAAAACAAAAAC... | AATAAAAATTAAAACCTGGGTATAGGGCCGGGTGCATTGGCTCACACTTAAAATCCCAGCACTTTGGGAGGCCAAGGTGGATGGATCACGTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCTTGTCTCTACTAAAAACACAAAAATTAGCCGGGTGTGATGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCGTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGACAATGAGAGTGAAACTCCATCTCAAAAACAAAAAC... |
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