| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GBA1, LOC106627981 (R502C +2 more) | Single nucleotide variant (missense variant) | not specified +9 more | |
| | GBA1, LOC106627981 (L483P +2 more) | Single nucleotide variant (missense variant) | Gaucher disease type II +14 more | |
| | GBA1, LOC106627981 (N409S +2 more) | Single nucleotide variant (missense variant) | Gaucher disease perinatal lethal +12 more | GPathogenic/Likely pathogenic; risk factor |
| | GBA1, LOC106627981 (N227S +2 more) | Single nucleotide variant (missense variant) | Gaucher disease +8 more | |
| | GBA1, LOC106627981 (S146L +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene