| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GBA1, LOC106627981 (E365K +2 more) | Single nucleotide variant (missense variant) | Gaucher disease perinatal lethal +13 more | GBenign/Likely benign; risk factor |
| | | Deletion (frameshift variant) | Global developmental delay +5 more | |
Click to view in NCBI Gene