| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | HPS6, LOC130004578 (V52fs) | Deletion (frameshift variant) | Hermansky-Pudlak syndrome +1 more | |
| | HPS6, LOC130004578 (D80fs) | Duplication (frameshift variant) | Hermansky-Pudlak syndrome +2 more | GConflicting classifications of pathogenicity |
| | HPS6, LOC130004578 (V95fs) | Deletion (frameshift variant) | Hermansky-Pudlak syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | HPS6-related disorder +3 more | |
| | | Microsatellite (frameshift variant) | Hermansky-Pudlak syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hermansky-Pudlak syndrome | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Storage pool disease of platelets | |
| | | Single nucleotide variant (missense variant) | Hermansky-Pudlak syndrome | |
| | | Deletion (frameshift variant) | Hermansky-Pudlak syndrome | |
| | | Deletion (frameshift variant) | Hermansky-Pudlak syndrome | |
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