| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | HPS6, LOC130004578 (L22fs) | Microsatellite (frameshift variant) | Hermansky-Pudlak syndrome +2 more | |
| | HPS6, LOC130004578 (D80fs) | Duplication (frameshift variant) | Hermansky-Pudlak syndrome +2 more | GConflicting classifications of pathogenicity |
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