| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | EVC2, LOC126806961 (R383fs +1 more) | Deletion (frameshift variant) | Ellis-van Creveld syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_indel) | Ellis-van Creveld syndrome | |
| | | Deletion (inframe_indel) | Ellis-van Creveld syndrome | |
| | EVC2, LOC126806961 (R399* +1 more) | Single nucleotide variant (nonsense) | not provided +2 more | |
| | EVC2, LOC126806961 (A391fs +1 more) | Indel (frameshift variant) | Ellis-van Creveld syndrome | |
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