| 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 |
| | | Single nucleotide variant (nonsense +2 more) | Short stature-brachydactyly-obesity-global developmental delay syndrome +17 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Acanthosis nigricans +14 more | |
Click to view in NCBI Gene