| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Autoinflammatory syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | TNF receptor-associated periodic fever syndrome (TRAPS) +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | TNF receptor-associated periodic fever syndrome (TRAPS) +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | TNF receptor-associated periodic fever syndrome (TRAPS) +2 more | |
Click to view in NCBI Gene