Variants in gene KCNJ2 with conflicting interpretations "likely pathogenic" and "pathogenic"

Submission 1 (likely pathogenic) minimum review status:		Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status:		Submission 2 (pathogenic) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000891.3(KCNJ2):c.277G>A (p.Val93Ile)	rs147750704	0.00007
NM_000891.3(KCNJ2):c.245G>A (p.Arg82Gln)	rs199473653
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp)	rs104894578
NM_000891.3(KCNJ2):c.913A>G (p.Thr305Ala)	rs199473387
NM_000891.3(KCNJ2):c.919A>G (p.Met307Val)	rs1555603994
NM_000891.3(KCNJ2):c.935G>A (p.Arg312His)	rs786205820
NM_000891.3(KCNJ2):c.939_944del (p.Ser314_Tyr315del)	rs2074390325

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.