| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Autoinflammatory syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (splice donor variant) | Griscelli syndrome type 2 +1 more | |
| | | Deletion (splice acceptor variant) | Griscelli syndrome type 2 | |
Click to view in NCBI Gene