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 |
|---|---|---|---|
| RS2474194160 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2474306346 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2474308188 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2474375068 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2474376997 | Health Risk | Likely pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS2474380998 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS2474508277 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2474508727 | Health Risk | Likely pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS2474666866 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS2474673801 | Health Risk | Likely pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS2474716865 | Health Risk | Likely pathogenic | — |
| RS2474716928 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2474947769 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475056620 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS2475058279 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475062325 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475161271 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475161920 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475164777 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475165491 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475378269 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS2475380111 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475380993 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475381257 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475383552 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475386527 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475386875 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475387716 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2475422633 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2476465516 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2476467795 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS2476474498 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS367968708 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS576076928 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS750565190 | Health Risk | Likely pathogenic | — |
| RS753679094 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS755381180 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 6 with or without polydactyly, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS773019082 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS777852863 | Health Risk | Likely pathogenic | Ellis-van Creveld syndrome, Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS1039706882 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1169539647 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1196950486 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS121908424 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS121908425 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Short-rib thoracic dysplasia 6 with or without polydactyly, Curry-Hall syndrome |
| RS1251648799 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1276815916 | Health Risk | Pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS1324604027 | Health Risk | Pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |
| RS1326731095 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1329006994 | Health Risk | Pathogenic | Ellis-van Creveld syndrome, Curry-Hall syndrome, Ellis-van Creveld syndrome |
| RS1344124533 | Health Risk | Pathogenic | Curry-Hall syndrome, Ellis-van Creveld syndrome, Curry-Hall syndrome |