| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | Hermansky-Pudlak syndrome +3 more | |
| | | Single nucleotide variant (missense variant +3 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified +4 more | |
| | | Indel (missense variant +1 more) | not specified +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene