| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126862264, MEFV (K695R) | Single nucleotide variant (missense variant +1 more) | Heart, malformation of +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Familial Mediterranean fever, autosomal dominant +24 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Familial Mediterranean fever +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +6 more | GConflicting classifications of pathogenicity |
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