| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Indel (missense variant) | Hermansky-Pudlak syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Hermansky-Pudlak syndrome 2 | |
| | | Single nucleotide variant (splice acceptor variant) | Hermansky-Pudlak syndrome 2 | |
Click to view in NCBI Gene