List of variants studied for Ellis-van Creveld syndrome by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level:
		ClinVar version:

Total variants: 17

Download table as spreadsheet

HGVS	dbSNP
EVC2, 1-BP DEL, 3660C
EVC2, 5-BP INS, NT198
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter)	rs137852924
NM_147127.5(EVC2):c.1855C>T (p.Gln619Ter)	rs137852925
NM_147127.5(EVC2):c.2056dup (p.Gln686fs)	rs1265421045
NM_147127.5(EVC2):c.2653C>T (p.Arg885Ter)	rs146538906
NM_147127.5(EVC2):c.2848C>T (p.Arg950Trp)	rs137852928
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter)	rs137852927
NM_147127.5(EVC2):c.707-2A>G	rs1302074641
NM_147127.5(EVC2):c.848T>G (p.Ile283Arg)	rs137852926
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter)	rs121908425
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln)	rs35953626
NM_153717.3(EVC):c.1886+5G>T	rs794726665
NM_153717.3(EVC):c.2457del (p.Met820fs)	rs794726666
NM_153717.3(EVC):c.2635C>T (p.Gln879Ter)	rs121908424
NM_153717.3(EVC):c.735del (p.Asp246fs)	rs587776619
NM_153717.3(EVC):c.919T>C (p.Ser307Pro)	rs121908426

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.