| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | EVC2, LOC126806961 (G488S +1 more) | Single nucleotide variant (missense variant) | not specified +4 more | |
| | EVC2, LOC126806961 (T455R +1 more) | Single nucleotide variant (missense variant) | EVC2-related condition +4 more | GConflicting classifications of pathogenicity |
| | EVC2, LOC126806961 (S323N +1 more) | Single nucleotide variant (missense variant) | Ellis-van Creveld syndrome +2 more | |
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