| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Hermansky-Pudlak syndrome 4 | |
| | | Single nucleotide variant (missense variant +2 more) | Hermansky-Pudlak syndrome 4 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hermansky-Pudlak syndrome 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Hermansky-Pudlak syndrome 4 +2 more | |
Click to view in NCBI Gene