RYR2 Variant Browser

Here we have a comprehensive list of variants in RYR2 found in individuals affected and unaffected with the disease most commonly associated with variants in RYR2, catecholaminergic polymorphic ventricular tachycardia (CPVT; OMIM: 604772). Coding variants are referenced to isoform P21817 (ENST00000366574.7) to match convention. 'Total Carriers' is the number of heterozygotes diagnosed with CPVT or other disease, Unaffected with disease, and found in the genome aggregation database (gnomAD). 'Other' is the number of heterozygotes diagnosed with a cardiac disease which is not CPVT. Use the 'Search Builder' and 'Search Panes' to select subsets of variants based on properties you are interested in.