| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC126862264, MEFV (V722M) | Single nucleotide variant (missense variant +1 more) | Acute febrile neutrophilic dermatosis +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +5 more | GConflicting classifications of pathogenicity |
| | 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) | Familial Mediterranean fever, autosomal dominant +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Familial Mediterranean fever, autosomal dominant +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +6 more | |
| | LOC126862264, MEFV (G436R) | Single nucleotide variant (no sequence alteration +2 more) | not specified +3 more | |
| | LOC126862264, MEFV (R433H) | Single nucleotide variant (missense variant +1 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | LOC126862264, MEFV (F425Y) | Single nucleotide variant (missense variant +1 more) | not specified +4 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene