| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Familial cold autoinflammatory syndrome +11 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Chronic infantile neurological, cutaneous and articular syndrome +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hearing loss, autosomal dominant 34, with or without inflammation +5 more | |
| | | Single nucleotide variant (missense variant) | Familial cold autoinflammatory syndrome 1 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Familial amyloid nephropathy with urticaria AND deafness +4 more | |
| | | Single nucleotide variant (missense variant) | Cryopyrin associated periodic syndrome +7 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene