{{Rsnum
|rsid=41315858
|Gene=RYR2
|Chromosome=1
|position=237614782
|Orientation=plus
|GMAF=0.01837
|Gene_s=RYR2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{ClinVar
|rsid=41315858
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=237614782
|CHROM=1
|GMAF=0.0183
|dbSNPBuildID=127
|SSR=0
|SAO=1
|VP=0x050068000a05150516100100
|GENEINFO=RYR2:6262
|GENE_NAME=RYR2
|GENE_ID=6262
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.237614782G>A
|CLNSRC=ClinVar; LabCorp
|CLNORIGIN=1
|CLNSIG=4
|CLNDBN=Arrhythmogenic right ventricular cardiomyopathy; AllHighlyPenetrant
|Disease=Arrhythmogenic right ventricular cardiomyopathy; AllHighlyPenetrant
|Tags=PM;PMC;NSM;REF;ASP;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD
|CAF=0.9816; 0.01837
|CLNACC=RCV000030425.1; RCV000036770.1
|CLNDSDB=GeneReviews:MedGen:SNOMED_CT:SNOMED_CT; MedGen
|CLNDSDBID=NBK1131:C0349788:253528005:281170005; CN169374
|COMMON=1
|CLNSRCID=NM_001035.2:c.5654G>A
}}

{{PMID|11159936}} Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2).

{{PMID|16769042}} Composite polymorphisms in the ryanodine receptor 2 gene associated with arrhythmogenic right ventricular cardiomyopathy.

{{PMID|18326664|OA=1
}} ARVC-related mutations in divergent region 3 alter functional properties of the cardiac ryanodine receptor.

{{PMID|19709828}} Genetic variability of RyR2 and CASQ2 genes in an Asian population.

{{GET Evidence
|gene=RYR2
|aa_change=Gly1885Glu
|aa_change_short=G1885E
|impact=pathogenic
|qualified_impact=High clinical importance, Uncertain pathogenic
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs41315858
|overall_frequency_n=180
|overall_frequency_d=10046
|overall_frequency=0.0179176
|n_genomes=3
|n_genomes_annotated=0
|n_haplomes=3
|n_articles=2
|n_articles_annotated=2
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=1
|qualitycomment_in_vitro=Y
|qualityscore_case_control=2
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualitycomment_familial=Y
|qualityscore_severity=4
|qualitycomment_severity=Y
|qualityscore_treatability=3
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=6
|autoscore=4
|n_web_uneval=10
|variant_evidence=2
|clinical_importance=0
|summary_short=Reported to cause arrhythmogenic right ventricular cardiomyopathy when compound heterozygous with G1886S, although this finding is weakened after correcting for multiple hypotheses and it is unclear what penetrance such a genotype might have, if it is causal.
}}

{{on chip | FTDNA}}