| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hermansky-Pudlak syndrome 5 | |
| | | Deletion (frameshift variant) | Hermansky-Pudlak syndrome 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene