| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Familial Mediterranean fever +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Familial Mediterranean fever, autosomal dominant +5 more | GPathogenic/Likely pathogenic |
| | LOC126862264, MEFV (K695R) | Single nucleotide variant (missense variant +1 more) | Familial Mediterranean fever, autosomal dominant +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Autoinflammatory syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Familial Mediterranean fever +24 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | Autoinflammatory syndrome +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial Mediterranean fever, autosomal dominant +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Familial Mediterranean fever +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene