| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Ellis-van Creveld syndrome | |
| | | Single nucleotide variant (missense variant) | Ellis-van Creveld syndrome | |
| | | Single nucleotide variant (missense variant) | Ellis-van Creveld syndrome +2 more | |
| | EVC2, LOC126806961 (C458W +1 more) | Single nucleotide variant (missense variant) | Ellis-van Creveld syndrome | |
| | EVC2, LOC126806961 (E457D +1 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | EVC2, LOC126806961 (T455R +1 more) | Single nucleotide variant (missense variant) | Ellis-van Creveld syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Curry-Hall syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Ellis-van Creveld syndrome | |
| | JAKMIP1, KIAA0232
+90 more | Copy number loss | 4p partial monosomy syndrome | |
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