| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hermansky-Pudlak syndrome 5 | |
| | HPS5, LOC130005404 (M115I +1 more) | Single nucleotide variant (missense variant +1 more) | HPS5-related condition +4 more | |
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