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 |
|---|---|---|---|
| RS554022197 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS555652075 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS556910528 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS557830930 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases |
| RS572056540 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS61218140 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS745889694 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS748514374 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases |
| RS750108569 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS756424912 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS757570584 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS762404021 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS762696562 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS771435248 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Inborn genetic diseases |
| RS771841841 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases |
| RS772234395 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS780172151 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS781009014 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS985034372 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS1036371676 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1159758018 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS1214848359 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1294715119 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1307502841 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS1319211611 | Health Risk | Likely pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS1360260333 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1383783171 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS1447633595 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1484464278 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1490912913 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS1553811863 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS1553818428 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1553833239 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1553836169 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1553837446 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS1553840713 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS1553849875 | Health Risk | Likely pathogenic | — |
| RS1553849894 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1553851870 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1553852469 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS1577194652 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1717279590 | Health Risk | Likely pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS1721107398 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1722942071 | Health Risk | Likely pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS186197620 | Health Risk | Likely pathogenic | Curry-Hall syndrome, Curry-Hall syndrome |
| RS2108777040 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS2108833043 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS2108851273 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS2108851279 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS2108864342 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |