| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GBA1, LOC106627981 (H326P +2 more) | Single nucleotide variant (missense variant) | Gaucher disease type I | |
| | GBA1, LOC106627981 (S405T +2 more) | Single nucleotide variant (missense variant) | Gaucher disease type I | |
| | GBA1, LOC106627981 (F186fs +2 more) | Deletion (frameshift variant) | Gaucher disease type I | |
| | GBA1, LOC106627981 (L48fs +1 more) | Deletion (frameshift variant +1 more) | Gaucher disease type I | |
Click to view in NCBI Gene