| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Immunodeficiency 57 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Autoinflammation with episodic fever and lymphadenopathy +2 more | |
| | | Single nucleotide variant (synonymous variant) | Autoinflammation with episodic fever and lymphadenopathy +3 more | |
Click to view in NCBI Gene