| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Ellis-van Creveld syndrome +1 more | |
| | EVC2, LOC126806961 (R383fs +1 more) | Deletion (frameshift variant) | Ellis-van Creveld syndrome +1 more | GPathogenic/Likely pathogenic |
| | EVC2, LOC126806961 (E457D +1 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | EVC2, LOC126806961 (R399* +1 more) | Single nucleotide variant (nonsense) | not provided +2 more | |
Click to view in NCBI Gene