| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | GBA1, LOC106627981 (D448H +2 more) | Single nucleotide variant (missense variant) | Gaucher disease perinatal lethal +9 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (N409S +2 more) | Single nucleotide variant (missense variant) | not provided +12 more | GPathogenic/Likely pathogenic; risk factor |
| | LOC106627981, GBA1 (H294Q +2 more) | Single nucleotide variant (missense variant) | Gaucher disease type I +7 more | GConflicting classifications of pathogenicity; other |
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