| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Familial Mediterranean fever | |
| | LOC126862264, MEFV (G687D) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | LOC126862264, MEFV (I666V) | Single nucleotide variant (missense variant +1 more) | Familial Mediterranean fever | |
| | LOC126862264, MEFV (S650Y) | Single nucleotide variant (missense variant +1 more) | Familial Mediterranean fever | |
| | LOC126862264, MEFV (D637G) | Single nucleotide variant (missense variant +1 more) | Familial Mediterranean fever | |
| | | Single nucleotide variant (missense variant) | Familial Mediterranean fever | |
| | | Single nucleotide variant (missense variant +1 more) | Familial Mediterranean fever | |
| | | Single nucleotide variant (missense variant +1 more) | Acute febrile neutrophilic dermatosis +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Familial Mediterranean fever | |
| | | Single nucleotide variant (missense variant +1 more) | Familial Mediterranean fever +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autoinflammatory syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Familial Mediterranean fever | |
Click to view in NCBI Gene