List of variants in gene EZH2 reported as likely pathogenic for Weaver syndrome

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

Total variants: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004456.5(EZH2):c.1882G>A (p.Gly628Ser)
NM_004456.5(EZH2):c.1969G>A (p.Asp657Asn)
NM_004456.5(EZH2):c.1990G>T (p.Asp664Tyr)	rs1060503430
NM_004456.5(EZH2):c.2000T>C (p.Met667Thr)	rs1584875099
NM_004456.5(EZH2):c.2015T>G (p.Phe672Cys)
NM_004456.5(EZH2):c.2035G>C (p.Val679Leu)
NM_004456.5(EZH2):c.2048C>A (p.Thr683Asn)	rs1802412684
NM_004456.5(EZH2):c.2132A>T (p.His711Leu)	rs1584862929
NM_004456.5(EZH2):c.2187T>G (p.Phe729Leu)	rs1584862620
NM_004456.5(EZH2):c.2187dup (p.Asp730Ter)	rs797045568
NM_004456.5(EZH2):c.2196-10_2197dup	rs1584844589
NM_004456.5(EZH2):c.2213C>A (p.Ala738Asp)	rs1131692184
NM_004456.5(EZH2):c.2218_2220dup (p.Lys740dup)	rs1563181659
NM_004456.5(EZH2):c.2236A>G (p.Arg746Gly)	rs587783627
NM_004456.5(EZH2):c.235G>A (p.Gly79Arg)
NM_004456.5(EZH2):c.386A>G (p.His129Arg)	rs2129477011
NM_004456.5(EZH2):c.472C>T (p.His158Tyr)	rs2129476891

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.