| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GBA1, LOC106627981 (R296Q +2 more) | Single nucleotide variant (missense variant) | Gaucher disease type I +9 more | |
| | GBA1, LOC106627981 (G241R +2 more) | Single nucleotide variant (missense variant) | not provided +6 more | |
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