| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Chronic infantile neurological, cutaneous and articular syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Cryopyrin associated periodic syndrome +1 more | |
| | | Copy number loss | not provided | |
Click to view in NCBI Gene