EVC2

EvC ciliary complex subunit 2

Summary

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]

Known Variants1,521 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1380639434:5,564,181T/C—benign
rs22875764:5,564,191T/A—benign
rs730722824:5,564,368T/C—likely benign
rs5653829694:5,564,434T/C—uncertain significance
rs17220298834:5,564,470G/A—uncertain significance
rs1158105954:5,564,485G/A—conflicting classifications of pathogenicity
rs8860594704:5,564,507A/G—uncertain significance
rs12779691484:5,564,578G/A—likely benign
rs7652070794:5,564,579T/C—uncertain significance
rs2008441304:5,564,583T/G—uncertain significance
rs7516713464:5,564,589A/C—uncertain significance
rs17220376824:5,564,591G/A—uncertain significance
rs21087649004:5,564,593C/T—likely benign
rs9665099954:5,564,611A/G—likely benign
rs9219523174:5,564,620G/A—likely benign
rs13949122754:5,564,625T/A—uncertain significance
rs24751653874:5,564,632C/T—likely benign
rs13710520604:5,564,634T/G—likely benign
rs9533558154:5,564,635G/A—likely benign
rs1381664404:5,564,638A/T—likely benign
rs24751654384:5,564,639G/A—uncertain significance
rs7714352484:5,564,643C/T—conflicting classifications of pathogenicity
rs3681033214:5,564,644G/A—likely benign
rs17220426434:5,564,647C/T—likely benign
rs7465784894:5,564,648A/G—uncertain significance
rs21087649984:5,564,649G/A—likely benign
rs3717713084:5,564,653G/A—likely benign
rs7593641164:5,564,656C/A—uncertain significance
rs2016518904:5,564,665C/T—conflicting classifications of pathogenicity
rs7629577784:5,564,667T/C—uncertain significance
rs7517259594:5,564,675C/A—uncertain significance
rs7725668804:5,564,677G/A—likely benign
rs21087650404:5,564,680T/A—likely benign
rs21087650434:5,564,683A/G—likely benign
rs7619242044:5,564,686G/C—likely benign
rs7507896554:5,564,689C/T—likely benign
rs24751656634:5,564,691T/A—uncertain significance
rs10087810564:5,564,692C/T—likely benign
rs15601216454:5,564,697C/A—pathogenic
rs15770931614:5,564,705A/C—pathogenic
rs24751657104:5,564,706A/G—likely benign
rs13355593694:5,564,707T/C—likely benign
rs5877765684:5,564,709——pathogenic
rs24751657594:5,564,715T/A—uncertain significance
rs9022250884:5,564,720T/A—uncertain significance
rs8948296974:5,564,723G/A—uncertain significance
rs21087651244:5,564,728T/A—likely benign
rs3683597724:5,564,730C/A—uncertain significance
rs7771443794:5,564,731A/G—likely benign
rs12118489214:5,564,732A/G—uncertain significance
rs12601649784:5,564,740A/C—likely benign
rs24751659414:5,564,742G/C—uncertain significance
rs10320447674:5,564,743G/A—likely benign
rs7455405724:5,564,745C/T—uncertain significance
rs7695209284:5,564,751C/A—pathogenic
rs7753556614:5,564,752G/A—likely benign
rs2009686264:5,564,756A/G—uncertain significance
rs7686937334:5,564,761C/T—likely benign
rs24751660404:5,564,768G/T—pathogenic
rs7742695384:5,564,770C/T—likely benign
rs13134375644:5,564,772G/T—uncertain significance
rs24751660684:5,564,773G/A—likely benign
rs7677403494:5,564,776T/G—likely benign
rs24751660924:5,564,778G/T—uncertain significance
rs13996035714:5,564,784T/G—uncertain significance
rs21087652394:5,564,791T/C—likely benign
rs7947273674:5,564,799A/G—uncertain significance
rs3755669434:5,564,800T/C—uncertain significance
rs1505518724:5,564,806C/A—uncertain significance
rs11579264094:5,564,815G/C—likely benign
rs17220604004:5,564,830C/T—likely benign
rs15538118634:5,564,844T/C—likely pathogenic
rs21087653284:5,564,847A/G—likely benign
rs17220622954:5,564,848G/A—likely benign
rs3719004914:5,564,852T/C—likely benign
rs12352600674:5,564,854G/A—likely benign
rs24751664534:5,564,857A/G—likely benign
rs68532374:5,564,860G/A—likely benign
rs737946354:5,564,953G/T—benign
rs787494634:5,565,066A/G—likely benign
rs1407149194:5,566,651G/A—likely benign
rs42347074:5,566,748C/T—benign
rs7480323944:5,566,965G/A—likely benign
rs7722030464:5,566,971G/C—likely benign
rs15770957114:5,566,972T/C—likely benign
rs24751721174:5,566,973G/A—likely benign
rs24751721204:5,566,975C/A—likely benign
rs2001193064:5,566,977A/G—likely benign
rs17222003214:5,566,980A/G—uncertain significance
rs3769644994:5,566,982T/C—uncertain significance
rs2003006124:5,566,983A/Gsplice region variantpathogenic
rs3697395944:5,566,989G/A—pathogenic
rs7701295584:5,566,990C/T—likely benign
rs9627742814:5,566,993T/C—likely benign
rs1395774754:5,567,000C/T—uncertain significance
rs7634339014:5,567,001G/A—uncertain significance
rs24751722504:5,567,002G/A—likely benign
rs7499016744:5,567,008C/G—likely benign
rs13924999414:5,567,010G/A—likely benign
rs3744259664:5,567,017T/C—likely benign

Showing 100 of 1,521 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.