| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GBA1, LOC106627981 (L483P +2 more) | Single nucleotide variant (missense variant) | Parkinson disease, late-onset +15 more | |
| | | Deletion (inframe_deletion +1 more) | Abortive cerebellar ataxia +12 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene