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 |
|---|---|---|---|
| RS760066386 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS762947212 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS768380281 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS769799880 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Thyroid cancer |
| RS779707723 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS781096099 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS868183689 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS1159674022 | Health Risk | Pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS1221185345 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1253403779 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1265421045 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1282621867 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1284395468 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1301855639 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1302074641 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Curry-Hall syndrome |
| RS1305301849 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1339651649 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1345487794 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1369020144 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS137852924 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Short-rib thoracic dysplasia 6 with or without polydactyly, Curry-Hall syndrome |
| RS137852925 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS137852926 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS137852927 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases |
| RS1383803030 | Health Risk | Pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS1396804493 | Health Risk | Pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS1420414097 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Curry-Hall syndrome |
| RS1421156255 | Health Risk | Pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS1430962566 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS144167138 | Health Risk | Pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS145425340 | Health Risk | Pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS146538906 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1553812417 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS1553815019 | Health Risk | Pathogenic | Jeune thoracic dystrophy, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS1553836165 | Health Risk | Pathogenic | Jeune thoracic dystrophy, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1553846613 | Health Risk | Pathogenic | — |
| RS1553850677 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1553851462 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases |
| RS1553855074 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS1560121645 | Health Risk | Pathogenic | Curry-Hall syndrome, Curry-Hall syndrome |
| RS1560126707 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1560172761 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1560180583 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1560208675 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1577093161 | Health Risk | Pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS1577093203 | Health Risk | Pathogenic | — |
| RS1577093258 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1715435004 | Health Risk | Pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS1715453232 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1715768907 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1715829134 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |