| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Gaucher disease type II +4 more | GConflicting classifications of pathogenicity |
| | GBA1, LOC106627981 (L483R +2 more) | Single nucleotide variant (missense variant) | GBA-related disorder +6 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (L483P +2 more) | Single nucleotide variant (missense variant) | not specified +14 more | |
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