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 |
|---|---|---|---|
| RS1035520087 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases |
| RS113002470 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases |
| RS115507440 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases |
| RS1219807707 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, EVC-related disorder |
| RS1237999856 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS1252318929 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS1314509668 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1361442490 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases |
| RS1373148885 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases |
| RS1373632260 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS138808610 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS139157869 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases |
| RS139481521 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS139931919 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, EVC-related disorder |
| RS140546984 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS1407007311 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS141755737 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, EVC-related disorder |
| RS141859946 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, EVC-related disorder |
| RS141896077 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS143464806 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases |
| RS143631233 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS143678893 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Inborn genetic diseases |
| RS143971158 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, EVC-related disorder |
| RS144029167 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases |
| RS144637923 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS144906677 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases |
| RS144943762 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, EVC-related disorder |
| RS145300726 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS145645536 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Inborn genetic diseases |
| RS146729456 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases |
| RS146739019 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases |
| RS146829332 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS147772724 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases |
| RS148418233 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS149344570 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases |
| RS149537641 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS149898884 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, EVC-related disorder |
| RS150373930 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, EVC-related disorder |
| RS150425919 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, EVC-related disorder |
| RS151293705 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS1553893423 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS183114391 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS199611644 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases |
| RS199875230 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS199916502 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS200403160 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS200479973 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS201776972 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases |
| RS202093497 | Health Risk | Conflicting classifications of pathogenicity | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS202150959 | Health Risk | Conflicting classifications of pathogenicity | Curry-Hall syndrome, Ellis-van Creveld syndrome, Inborn genetic diseases |