| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GBA1, LOC106627981 (G416S +2 more) | Single nucleotide variant (missense variant) | Gaucher disease type II +8 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (N409S +2 more) | Single nucleotide variant (missense variant) | Gaucher disease perinatal lethal +12 more | GPathogenic/Likely pathogenic; risk factor |
| | GBA1, LOC106627981 (W218* +2 more) | Single nucleotide variant (nonsense) | Parkinson disease, late-onset +2 more | |
Click to view in NCBI Gene