| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GBA1, LOC106627981 (H442R +2 more) | Single nucleotide variant (missense variant) | Parkinson disease, late-onset | |
| | GBA1, LOC106627981 (R502C +2 more) | Single nucleotide variant (missense variant) | Parkinson disease, late-onset +9 more | |
| | GBA1, LOC106627981 (L483P +2 more) | Single nucleotide variant (missense variant) | Parkinson disease, late-onset +15 more | |
| | GBA1, LOC106627981 (N409S +2 more) | Single nucleotide variant (missense variant) | not provided +13 more | GPathogenic/Likely pathogenic; risk factor |
| | GBA1, LOC106627981 (G145E +2 more) | Single nucleotide variant (missense variant) | Alpha thalassemia-X-linked intellectual disability syndrome | |
| | GBA1, LOC106627981 (N227S +2 more) | Single nucleotide variant (missense variant) | not provided +8 more | |
| | LOC106627981, GBA1 (S146L +1 more) | Single nucleotide variant (missense variant +1 more) | Gaucher disease type I +3 more | GConflicting classifications of pathogenicity |
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