| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | not provided +3 more | |
| | | Deletion (frameshift variant) | Hermansky-Pudlak syndrome +2 more | GPathogenic/Likely pathogenic |
| | HPS1, MIR4685 (M238fs +6 more) | Duplication (frameshift variant) | Hermansky-Pudlak syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Hermansky-Pudlak syndrome 1 +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
Click to view in NCBI Gene