| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GBA1, LOC106627981 (T75del) | Deletion (inframe_deletion +1 more) | Parkinson disease, late-onset +8 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (T69fs) | Duplication (frameshift variant +1 more) | Inborn genetic diseases +9 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene