| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Familial cold autoinflammatory syndrome 4 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autoinflammatory syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more | |
| | | Duplication (frameshift variant) | Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Periodic fever-infantile enterocolitis-autoinflammatory syndrome +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene