| | | Single nucleotide variant (synonymous variant) | Ellis-van Creveld syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Ellis-van Creveld syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Curry-Hall syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Ellis-van Creveld syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Curry-Hall syndrome +3 more | |
| | | Indel (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Curry-Hall syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | EVC2-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ellis-van Creveld syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | EVC2-related disorder +2 more | |
| | | Single nucleotide variant (intron variant) | EVC2-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | EVC2-related disorder +1 more | |
| | | Single nucleotide variant (nonsense) | Ellis-van Creveld syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Ellis-van Creveld syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | EVC2-related disorder +2 more | |
| | | Single nucleotide variant (synonymous variant) | EVC2-related disorder +3 more | |
| | | Single nucleotide variant (synonymous variant) | EVC2-related disorder +2 more | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | EVC2-related disorder +3 more | |
| | | Single nucleotide variant (synonymous variant) | Curry-Hall syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Ellis-van Creveld syndrome +4 more | |
| | | Single nucleotide variant (synonymous variant) | EVC2-related disorder +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ellis-van Creveld syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Ellis-van Creveld syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Ellis-van Creveld syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | EVC2-related disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Ellis-van Creveld syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Curry-Hall syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Ellis-van Creveld syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Ellis-van Creveld syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Ellis-van Creveld syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | EVC2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Ellis-van Creveld syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | not specified +4 more | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Ellis-van Creveld syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ellis-van Creveld syndrome +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Ellis-van Creveld syndrome +4 more | |
| | | Single nucleotide variant (intron variant) | EVC2-related disorder +2 more | |
| | | Single nucleotide variant (intron variant) | Ellis-van Creveld syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | EVC2-related disorder +4 more | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | EVC2, LOC126806961 (G488S +1 more) | Single nucleotide variant (missense variant) | EVC2-related disorder +4 more | |
| | | Single nucleotide variant (synonymous variant) | Ellis-van Creveld syndrome +2 more | |
| | EVC2, LOC126806961 (T455R +1 more) | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Curry-Hall syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | EVC2-related disorder +2 more | |
| | | Microsatellite (intron variant) | EVC2-related disorder | |
| | EVC2, LOC126806962 (G248E +1 more) | Single nucleotide variant (missense variant) | EVC2-related disorder +3 more | |
| | | Single nucleotide variant (nonsense) | Ellis-van Creveld syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | EVC2-related disorder +2 more | |
| | | Single nucleotide variant (synonymous variant) | EVC2-related disorder +2 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (intron variant) | EVC2-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | EVC2-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | Curry-Hall syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (nonsense) | EVC2-related disorder +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Ellis-van Creveld syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Ellis-van Creveld syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Ellis-van Creveld syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | EVC2-related disorder +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | EVC2-related disorder +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Ellis-van Creveld syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | EVC2-related disorder +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Ellis-van Creveld syndrome +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Curry-Hall syndrome +2 more | |