| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| EVC2 | skeletal,dental,nail & cardiac defects | Autosomal Recessive | 4p16 | Nonsense | EVC2 | 702G>A | Trp234* | Premature Termination | Aziz et al., 2016/2016 |
| EVC2 | skeletal,dental,nail & cardiac defects,DEM | Autosomal Recessive | 4p16 | Duplication | EVC2 | 30dupC | Thr11Hisfs*45 | FS & PTC | Umair et al., 2017/2017 |
