| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Cryopyrin associated periodic syndrome +5 more | |
| | | Single nucleotide variant (synonymous variant) | Chronic infantile neurological, cutaneous and articular syndrome +6 more | |
| | | Single nucleotide variant (nonsense) | Cryopyrin associated periodic syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Cryopyrin associated periodic syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Cryopyrin associated periodic syndrome +4 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +6 more | |
| | | Single nucleotide variant (missense variant) | Autoinflammatory syndrome +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
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