List of variants in gene ZC4H2 reported as uncertain significance for Wieacker-Wolff 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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_018684.4(ZC4H2):c.527C>T (p.Thr176Met)	rs747730322	0.00001
NM_018684.4(ZC4H2):c.142T>A (p.Tyr48Asn)	rs2519696396
NM_018684.4(ZC4H2):c.170A>C (p.Gln57Pro)	rs1929211117
NM_018684.4(ZC4H2):c.177G>T (p.Lys59Asn)	rs2519696326
NM_018684.4(ZC4H2):c.290T>C (p.Leu97Pro)	rs2519693922
NM_018684.4(ZC4H2):c.406G>C (p.Glu136Gln)	rs751880978
NM_018684.4(ZC4H2):c.551del (p.Pro184fs)	rs2519691749
NM_018684.4(ZC4H2):c.561+7G>A	rs1929057022
NM_018684.4(ZC4H2):c.561G>T (p.Lys187Asn)	rs1929057155

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.