| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GBA1, LOC106627981 (S376T +2 more) | Single nucleotide variant (missense variant) | Gaucher disease type I +6 more | |
| | GBA1, LOC106627981 (N409S +2 more) | Single nucleotide variant (missense variant) | Gaucher disease perinatal lethal +13 more | GPathogenic/Likely pathogenic; risk factor |
| | | Single nucleotide variant (synonymous variant) | not provided +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Gaucher disease perinatal lethal +9 more | |
| | GBA1, LOC106627981 (T75del) | Deletion (inframe_deletion +1 more) | Parkinson disease, late-onset +8 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene