| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Immunodeficiency 57 +1 more | |
| | | Single nucleotide variant (missense variant) | Autoinflammation with episodic fever and lymphadenopathy +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene