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 |
|---|---|---|---|
| RS1366496332 | Health Risk | Pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS1381525157 | Health Risk | Pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS1425513399 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1428798262 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1439712140 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1443064804 | Health Risk | Pathogenic | EVC-related disorder, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1460597472 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS146232611 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Inborn genetic diseases |
| RS1553857828 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1553867117 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1553871764 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS1553871792 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1553873969 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1553876034 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1553876870 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS1553894457 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS1560274093 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1560315890 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Curry-Hall syndrome |
| RS1560323242 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1560329339 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1560340993 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1577395250 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1577638781 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS1714412021 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1722986802 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1729197529 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1729200967 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1729654379 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1729663828 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1730623318 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1730760070 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1735952327 | Health Risk | Pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS1736000365 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Curry-Hall syndrome |
| RS2151766718 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS2151768710 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS2151842413 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS2151842550 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS2151919221 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS2151935061 | Health Risk | Pathogenic | — |
| RS2151935449 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS2151935987 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS2151945937 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS2151946081 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS2152000498 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS2152001027 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS2152076522 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS2152076745 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS2152094799 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS2152289369 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS2152326431 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |