| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | HPS5, LOC130005404 (M115I +1 more) | Single nucleotide variant (missense variant +1 more) | HPS5-related condition +4 more | |
| | HPS5, LOC130005404 (R109H) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
Click to view in NCBI Gene