List of variants reported as pathogenic for Klippel-Feil syndrome by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu)	rs121909352	0.00200
NM_020634.3(GDF3):c.796C>T (p.Arg266Cys)	rs140926412	0.00188
NM_001001557.4(GDF6):c.125G>T (p.Gly42Val)	rs121909354	0.00098
NM_001001557.4(GDF6):c.866T>C (p.Leu289Pro)	rs63751220	0.00090
NM_001001557.4(GDF6):c.1271A>G (p.Lys424Arg)	rs121909353	0.00003
NM_032608.7(MYO18B):c.6433C>T (p.Arg2145Ter)	rs753585568	0.00002
NM_004527.4(MEOX1):c.250C>T (p.Gln84Ter)	rs713993044
NM_004527.4(MEOX1):c.664C>T (p.Arg222Ter)	rs772798486
NM_004527.4(MEOX1):c.94del (p.Ala32fs)	rs1567750527
NM_032608.7(MYO18B):c.6496G>T (p.Glu2166Ter)	rs869312740
NM_032608.7(MYO18B):c.6660_6670del (p.Arg2220fs)	rs756408696
NM_032608.7(MYO18B):c.6768del (p.Leu2257fs)	rs1569308524
NM_032608.7(MYO18B):c.6905C>A (p.Ser2302Ter)	rs556752387

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.