EVC2 Chromosome 4
EvC ciliary complex subunit 2
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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 |
|---|---|---|---|
| RS770918273 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS771460962 | Health Risk | Pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS772639262 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS772840335 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS774416029 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS778793911 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS779857359 | Health Risk | Pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS781623802 | Health Risk | Pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS886037763 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS886037764 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS886044525 | Health Risk | Pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS942590430 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS992326794 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1043590599 | Health Risk | Pathogenic/Likely pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS1176738073 | Health Risk | Pathogenic/Likely pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS1236566474 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1291275281 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1308566542 | Health Risk | Pathogenic/Likely pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS1355905411 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1367694162 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1368193719 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1391194715 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases |
| RS1400121444 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1431987950 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1442303442 | Health Risk | Pathogenic/Likely pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS1477102573 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1553855127 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1553855151 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1577170055 | Health Risk | Pathogenic/Likely pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS186349183 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS200300612 | Health Risk | Pathogenic/Likely pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, EVC2-related disorder |
| RS2108843158 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS2108900159 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS2151750059 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS2475235455 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS2475236642 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS2475385307 | Health Risk | Pathogenic/Likely pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS376133710 | Health Risk | Pathogenic/Likely pathogenic | Type IV short rib polydactyly syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS748820015 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS757914735 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS760382778 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS761707323 | Health Risk | Pathogenic/Likely pathogenic | Jeune thoracic dystrophy, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS767072839 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS777505711 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS779407729 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS965707319 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS981099037 | Health Risk | Pathogenic/Likely pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS999964757 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, EVC2-related disorder |