| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GBA1, LOC106627981 (R502C +2 more) | Single nucleotide variant (missense variant) | Gaucher disease +9 more | |
| | GBA1, LOC106627981 (N409S +2 more) | Single nucleotide variant (missense variant) | Gaucher disease +13 more | GPathogenic/Likely pathogenic; risk factor |
| | GBA1, LOC106627981 (R296Q +2 more) | Single nucleotide variant (missense variant) | Gaucher disease type I +8 more | |
| | GBA1, LOC106627981 (L213F +2 more) | Single nucleotide variant (missense variant) | Gaucher disease type I +5 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene