rs104886460

This is a splice region variant variant in the GBA gene.

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ClinVar annotation

Pathogenic★★★☆
22 submitters30 publications

Gaucher disease; Gaucher disease perinatal lethal; Gaucher disease type I (GD1); Gaucher disease type II (GD2); Gaucher disease type III; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Lewy body dementia (DLB); Parkinson disease, late-onset (PD); not specified

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This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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