EVC2 Chromosome 4
EvC ciliary complex subunit 2
Upload your DNA to see your personal genotypes for variants in EVC2.
What This Gene Does
This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Associated Conditions (12)
Ellis-van Creveld syndrome
Curry-Hall syndrome
EVC2-related disorder
Inborn genetic diseases
Type IV short rib polydactyly syndrome
Papillary renal cell carcinoma type 1
Thyroid cancer
nonmedullary
1
Short-rib thoracic dysplasia 6 with or without polydactyly
Jeune thoracic dystrophy
Familial cancer of breast
Key Variants
RS1003816966
Conflicting classifications of pathogenicity
Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome
Health Risk
RS1006097259
Conflicting classifications of pathogenicity
Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome
Health Risk
RS111779557
Conflicting classifications of pathogenicity
Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome
Health Risk
RS115466792
Conflicting classifications of pathogenicity
Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome
Health Risk
RS115810595
Conflicting classifications of pathogenicity
Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
Health Risk
RS1192584069
Conflicting classifications of pathogenicity
Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome
Health Risk
RS1331241591
Conflicting classifications of pathogenicity
Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome
Health Risk
RS137884710
Conflicting classifications of pathogenicity
Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome
Health Risk
RS139129327
Conflicting classifications of pathogenicity
Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome
Health Risk
RS139936564
Conflicting classifications of pathogenicity
Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome
Health Risk
RS140864640
Conflicting classifications of pathogenicity
Ellis-van Creveld syndrome, Curry-Hall syndrome, EVC2-related disorder
Health Risk
RS141287105
Conflicting classifications of pathogenicity
Ellis-van Creveld syndrome, Curry-Hall syndrome, EVC2-related disorder
Health Risk
All Variants (348)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2151724043 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS2151736638 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2474100970 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2474109890 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2474141903 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475182808 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475183787 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475184249 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475201744 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475207726 | Health Risk | Likely pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS2475208623 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475235098 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475236631 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475236700 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475350092 | Health Risk | Likely pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS2475350406 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475350575 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475373423 | Health Risk | Likely pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS2475374125 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475375376 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475376434 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475376968 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475385703 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475385758 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475395424 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475395618 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475406567 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475407458 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475407465 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475407728 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475436920 | Health Risk | Likely pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS2475437004 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475438200 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475438203 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475438306 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475438548 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475505734 | Health Risk | Likely pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS2475506558 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475514671 | Health Risk | Likely pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS2475515135 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475515476 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475566241 | Health Risk | Likely pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS2475578663 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475578805 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475579060 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475591015 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475591881 | Health Risk | Likely pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS2475597907 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS749251178 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Curry-Hall syndrome |
| RS752255602 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |