EVC Chromosome 4
EvC ciliary complex subunit 1
Upload your DNA to see your personal genotypes for variants in EVC.
What This Gene Does
This gene encodes a protein containing a leucine zipper and a transmembrane domain. This gene has been implicated in both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis. [provided by RefSeq, Jul 2008]
Associated Conditions (11)
Ellis-van Creveld syndrome
Curry-Hall syndrome
Inborn genetic diseases
EVC-related disorder
Malignant tumor of esophagus
Uterine corpus endometrial carcinoma
Clear cell carcinoma of kidney
Short-rib thoracic dysplasia 6 with or without polydactyly
Hepatocellular carcinoma
EVC-associated disorder
Chronic lymphocytic leukemia/small lymphocytic lymphoma
Key Variants
RS1035520087
Conflicting classifications of pathogenicity
Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases
Health Risk
RS113002470
Conflicting classifications of pathogenicity
Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases
Health Risk
RS115507440
Conflicting classifications of pathogenicity
Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases
Health Risk
RS1219807707
Conflicting classifications of pathogenicity
Ellis-van Creveld syndrome, Curry-Hall syndrome, EVC-related disorder
Health Risk
RS1237999856
Conflicting classifications of pathogenicity
Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome
Health Risk
RS1252318929
Conflicting classifications of pathogenicity
Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome
Health Risk
RS1314509668
Conflicting classifications of pathogenicity
Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome
Health Risk
RS1361442490
Conflicting classifications of pathogenicity
Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases
Health Risk
RS1373148885
Conflicting classifications of pathogenicity
Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases
Health Risk
RS1373632260
Conflicting classifications of pathogenicity
Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome
Health Risk
RS138808610
Conflicting classifications of pathogenicity
Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome
Health Risk
RS139157869
Conflicting classifications of pathogenicity
Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases
Health Risk
All Variants (342)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS753152908 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS759106605 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS760043559 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS760607210 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS762136199 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS762795511 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS767913372 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS768485560 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS770649751 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS774949132 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS775555999 | Health Risk | Pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS779833768 | Health Risk | Pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS779915989 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS780000441 | Health Risk | Pathogenic | — |
| RS794726665 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Short-rib thoracic dysplasia 6 with or without polydactyly, Curry-Hall syndrome |
| RS794726666 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS886059495 | Health Risk | Pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS909612975 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Curry-Hall syndrome |
| RS1007534611 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1017946059 | Health Risk | Pathogenic/Likely pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS121908426 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1262933856 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1312383000 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Curry-Hall syndrome |
| RS1317662938 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1424976594 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, EVC-associated disorder |
| RS1437174284 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1446547358 | Health Risk | Pathogenic/Likely pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, EVC-related disorder |
| RS1447653524 | Health Risk | Pathogenic/Likely pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS1553865348 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, EVC-related disorder, Ellis-van Creveld syndrome |
| RS1553889992 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS1553891936 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1553892090 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1560340266 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, EVC-related disorder |
| RS1714132239 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS2474424607 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS2474717066 | Health Risk | Pathogenic/Likely pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS561852174 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS764397417 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS765269619 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS767186464 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Chronic lymphocytic leukemia/small lymphocytic lymphoma |
| RS767400887 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS779275317 | Health Risk | Pathogenic/Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, EVC-related disorder |