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 |
|---|---|---|---|
| RS1003816966 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1006097259 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS111779557 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS115466792 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS115810595 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS1192584069 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1331241591 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS137884710 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS139129327 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS139936564 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS140864640 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, EVC2-related disorder |
| RS141287105 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, EVC2-related disorder |
| RS141371552 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS142231129 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS144511301 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Inborn genetic diseases |
| RS144532809 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS144670544 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, EVC2-related disorder |
| RS145693546 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Type IV short rib polydactyly syndrome, Curry-Hall syndrome |
| RS145758016 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS145786485 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases |
| RS146588335 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, EVC2-related disorder |
| RS148248777 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS150215092 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Inborn genetic diseases, Ellis-van Creveld syndrome |
| RS150367317 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, EVC2-related disorder |
| RS150444745 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, EVC2-related disorder |
| RS150691722 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS1577095782 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Inborn genetic diseases |
| RS1720934756 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases |
| RS1720937470 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS190540235 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases |
| RS200000369 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS200609501 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, EVC2-related disorder |
| RS200743695 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases |
| RS201048030 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS201083070 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS201173415 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS201460514 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS201651890 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS201835379 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS202093384 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Inborn genetic diseases |
| RS202191109 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Inborn genetic diseases |
| RS202198132 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Inborn genetic diseases, Curry-Hall syndrome |
| RS35103377 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS367655073 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS368314615 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases |
| RS370232376 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS370769794 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS371526145 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS374178504 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS377393052 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Inborn genetic diseases |