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