Variants with conflicting interpretations "likely pathogenic" from Department of Vascular Biology, Beijing Anzhen Hospital and "pathogenic" from any submitter

Minimum review status of the submission from Department of Vascular Biology, Beijing Anzhen Hospital:		Collection method of the submission from Department of Vascular Biology, Beijing Anzhen Hospital:
Minimum review status of the other submission:		Collection method of the other submission:
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter)	rs137854466	0.00001
NM_000138.5(FBN1):c.1090C>T (p.Arg364Ter)	rs794728165
NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter)	rs140583
NM_000138.5(FBN1):c.2723G>A (p.Cys908Tyr)	rs1057523406
NM_000138.5(FBN1):c.4567C>T (p.Arg1523Ter)	rs397515812
NM_000138.5(FBN1):c.4930C>T (p.Arg1644Ter)	rs140630
NM_000138.5(FBN1):c.493C>T (p.Arg165Ter)	rs113905529
NM_000138.5(FBN1):c.6487G>T (p.Glu2163Ter)	rs1555395191
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter)	rs113001196
NM_000138.5(FBN1):c.7453+1G>A	rs397515851
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)	rs363811
NM_000138.5(FBN1):c.7726C>T (p.Arg2576Cys)	rs147195031
NM_001613.4(ACTA2):c.635G>A (p.Arg212Gln)	rs397516685

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.