| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Autoinflammatory syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Griscelli syndrome type 2 +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene