| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GBA1, LOC106627981 (R535H +2 more) | Single nucleotide variant (missense variant) | Gaucher disease type I +9 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (E427* +2 more) | Single nucleotide variant (nonsense) | Gaucher disease | |
| | GBA1, LOC106627981 (N409S +2 more) | Single nucleotide variant (missense variant) | GBA1-related disorder +13 more | GPathogenic/Likely pathogenic; risk factor |
| | GBA1, LOC106627981 (E365K +2 more) | Single nucleotide variant (missense variant) | Parkinsonian disorder +13 more | GBenign/Likely benign; risk factor |
Click to view in NCBI Gene