| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GBA1, LOC106627981 (L483P +2 more) | Single nucleotide variant (missense variant) | Gaucher disease perinatal lethal +15 more | |
| | LOC106627981, GBA1 (S115R +2 more) | Single nucleotide variant (missense variant) | Gaucher disease type I +2 more | |
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