| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Autoinflammatory syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (nonsense) | Chédiak-Higashi syndrome | |
Click to view in NCBI Gene