| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autoinflammation with episodic fever and lymphadenopathy | |
Click to view in NCBI Gene