| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Hermansky-Pudlak syndrome 8 | |
| | | Deletion (frameshift variant) | Hermansky-Pudlak syndrome 8 | |
| | | Deletion (inframe_deletion) | Hermansky-Pudlak syndrome 8 | |
Click to view in NCBI Gene