| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GBA1, LOC106627981 (R502C +2 more) | Single nucleotide variant (missense variant) | not specified +9 more | |
| | GBA1, LOC106627981 (N414K +2 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | GBA1, LOC106627981 (L483R +2 more) | Single nucleotide variant (missense variant) | GBA-related disorder +6 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (N409S +2 more) | Single nucleotide variant (missense variant) | Gaucher disease type I +12 more | GPathogenic/Likely pathogenic; risk factor |
Click to view in NCBI Gene