| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Ellis-van Creveld syndrome | Skeletal, ectodermal and cardiac defects | Autosomal Recessive | 4p16 | Missense | EVC | 617G>A | Ser206Asn | Amino Acid Substitution | Kalsoom et al., 2010/2010 |
| EVC | skeletal,dental,nail & cardiac defects | Autosomal Recessive | 4p16 | Missense | EVC | 617G>A | Ser206Asn | Amino Acid Substitution | Kalsoom et al., 2010/2010 |
| EVC | skeletal,dental,nail & cardiac defects | Autosomal Recessive | 4p16 | Duplication | EVC | 1932_1946dup 15bp | Aziz et al., 2016/2016 |
