| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Hermansky-Pudlak syndrome 2 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Hermansky-Pudlak syndrome 2 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Indel (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Hermansky-Pudlak syndrome 2 +2 more | |
| | | Single nucleotide variant (missense variant) | Hermansky-Pudlak syndrome 2 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hermansky-Pudlak syndrome 2 +1 more | |
Click to view in NCBI Gene