| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate E +6 more | GPathogenic/Likely pathogenic |
| | LOC126862264, MEFV (K695R) | Single nucleotide variant (missense variant +1 more) | not specified +9 more | GConflicting classifications of pathogenicity |
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