| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Hermansky-Pudlak syndrome 1 +1 more | |
| | | Duplication (frameshift variant) | Hermansky-Pudlak syndrome 1 +3 more | |
| | | Deletion (frameshift variant) | Hermansky-Pudlak syndrome 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hermansky-Pudlak syndrome 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Hermansky-Pudlak syndrome 1 +2 more | GPathogenic/Likely pathogenic |
| | HPS1, MIR4685 (M238fs +6 more) | Duplication (frameshift variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +3 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +2 more) | Hermansky-Pudlak syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | HPS1-related disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Hermansky-Pudlak syndrome 1 +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene