| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GBA1, LOC106627981 (N409S +2 more) | Single nucleotide variant (missense variant) | not provided +13 more | GPathogenic/Likely pathogenic; risk factor |
| | GBA1, LOC106627981 (M113V +2 more) | Single nucleotide variant (missense variant) | Gaucher disease +2 more | GConflicting classifications of pathogenicity |
| | GBA1, LOC106627981 (R159Q +2 more) | Single nucleotide variant (missense variant) | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome +5 more | GPathogenic/Likely pathogenic |
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