List of variants in gene GJC2 reported as uncertain significance by Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,

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: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_020435.4(GJC2):c.1096dup (p.Asp366fs)	rs1391047082
NM_020435.4(GJC2):c.118G>C (p.Ala40Pro)	rs1302747902
NM_020435.4(GJC2):c.571_572insG (p.Thr191fs)	rs2034716505
NM_020435.4(GJC2):c.733T>A (p.Cys245Ser)	rs1571908056
NM_020435.4(GJC2):c.883C>T (p.Gln295Ter)	rs1375875748
NM_020435.4(GJC2):c.907_923del (p.Gly303fs)	rs1423370842

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.