List of variants in gene combination LOC126806068, RYR2 reported as likely pathogenic for Catecholaminergic polymorphic ventricular tachycardia 1

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: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001035.3(RYR2):c.12455T>A (p.Ile4152Asn)	rs1695358851
NM_001035.3(RYR2):c.12457A>C (p.Ser4153Arg)
NM_001035.3(RYR2):c.12463T>A (p.Ser4155Thr)	rs1060500135
NM_001035.3(RYR2):c.12499G>A (p.Glu4167Lys)	rs1695363148
NM_001035.3(RYR2):c.12511C>G (p.Gln4171Glu)
NM_001035.3(RYR2):c.12539G>T (p.Gly4180Val)	rs1558405816
NM_001035.3(RYR2):c.12550_12552del (p.Glu4184del)	rs1558405887
NM_001035.3(RYR2):c.12578G>A (p.Cys4193Tyr)	rs1573935244
NM_001035.3(RYR2):c.12587C>T (p.Thr4196Ile)	rs2149354389
NM_001035.3(RYR2):c.12589A>C (p.Ile4197Leu)	rs765238394
NM_001035.3(RYR2):c.12608C>T (p.Ala4203Val)	rs794728792

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.