"Clinical Genetics, Academic Medical Center"[submitter] AND "RYR2"[gen - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1284662	NM_001035.3(RYR2):c.464-8A>T	RYR2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 43790	NM_001035.3(RYR2):c.464-8A>C	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GBenign
Select item 1284298	NM_001035.3(RYR2):c.473G>A (p.Cys158Tyr)	RYR2 (C158Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 43810	NM_001035.3(RYR2):c.576+7G>C	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GBenign/Likely benign
Select item 296702	NM_001035.3(RYR2):c.577-14G>A	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GConflicting classifications of pathogenicity
Select item 138935	NM_001035.3(RYR2):c.726C>T (p.Asp242=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia +4 more	GBenign/Likely benign
Select item 640529	NM_001035.3(RYR2):c.782A>G (p.His261Arg)	RYR2 (H261R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +5 more	GUncertain significance
Select item 463649	NM_001035.3(RYR2):c.892C>T (p.Arg298Cys)	RYR2 (R298C)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GConflicting classifications of pathogenicity
Select item 179775	NM_001035.3(RYR2):c.1005+13A>G	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GBenign/Likely benign
Select item 296708	NM_001035.3(RYR2):c.1006-12C>T	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GConflicting classifications of pathogenicity
Select item 519533	NM_001035.3(RYR2):c.1069G>A (p.Gly357Ser)	RYR2 (G357S)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GPathogenic
Select item 36730	NM_001035.3(RYR2):c.1134C>T (p.Asp378=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 201209	NM_001035.3(RYR2):c.1144G>A (p.Val382Met)	RYR2 (V382M)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 138937	NM_001035.3(RYR2):c.1218G>A (p.Ser406=)	RYR2	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 201212	NM_001035.3(RYR2):c.1240C>T (p.Arg414Cys)	RYR2 (R414C)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 846341	NM_001035.3(RYR2):c.1241G>A (p.Arg414His)	RYR2 (R414H)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +5 more	GConflicting classifications of pathogenicity
Select item 138938	NM_001035.3(RYR2):c.1292+20C>T	RYR2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 628514	NM_001035.3(RYR2):c.1293-14A>G	RYR2	Single nucleotide variant (intron variant)	Cardiomyopathy +1 more	GLikely benign
Select item 771674	NM_001035.3(RYR2):c.1335C>T (p.Val445=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 43728	NM_001035.3(RYR2):c.1359C>T (p.Ser453=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GBenign
Select item 463573	NM_001035.3(RYR2):c.1395C>A (p.Pro465=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GLikely benign
Select item 862465	NM_001035.3(RYR2):c.1476+5G>A	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia +3 more	GUncertain significance
Select item 43750	NM_001035.3(RYR2):c.1519G>A (p.Val507Ile)	RYR2 (V507I)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 43751	NM_001035.3(RYR2):c.1548T>C (p.Asp516=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GConflicting classifications of pathogenicity
Select item 644440	NM_001035.3(RYR2):c.1574C>G (p.Ser525Cys)	RYR2 (S525C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 36736	NM_001035.3(RYR2):c.1611G>A (p.Leu537=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign
Select item 179814	NM_001035.3(RYR2):c.1612+13A>G	RYR2	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 43752	NM_001035.3(RYR2):c.1612+14T>C	RYR2	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 43753	NM_001035.3(RYR2):c.1776A>T (p.Gly592=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign
Select item 36737	NM_001035.3(RYR2):c.1863C>T (p.His621=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +6 more	GBenign/Likely benign
Select item 928176	NM_001035.3(RYR2):c.1987G>A (p.Val663Ile)	RYR2 (V663I)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +2 more	GConflicting classifications of pathogenicity
Select item 43755	NM_001035.3(RYR2):c.2046A>G (p.Thr682=)	RYR2	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 201377	NM_001035.3(RYR2):c.2050C>A (p.Pro684Thr)	RYR2 (P684T)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 36738	NM_001035.3(RYR2):c.2204-7C>G	RYR2	Single nucleotide variant (intron variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 93477	NM_001035.3(RYR2):c.2301G>T (p.Ser767=)	RYR2	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 43758	NM_001035.3(RYR2):c.2397-6C>T	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GBenign
Select item 806395	NM_001035.3(RYR2):c.2423A>G (p.His808Arg)	RYR2 (H808R)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 201165	NM_001035.3(RYR2):c.2574G>A (p.Thr858=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 43762	NM_001035.3(RYR2):c.2760G>A (p.Glu920=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 296716	NM_001035.3(RYR2):c.2772G>A (p.Leu924=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GConflicting classifications of pathogenicity
Select item 463591	NM_001035.3(RYR2):c.2922T>C (p.Ser974=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GLikely benign
Select item 43763	NM_001035.3(RYR2):c.2973A>G (p.Ser991=)	RYR2	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign
Select item 378486	NM_001035.3(RYR2):c.3024G>A (p.Ala1008=)	RYR2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 43764	NM_001035.3(RYR2):c.3030T>C (p.Asp1010=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +7 more	GBenign/Likely benign
Select item 201235	NM_001035.3(RYR2):c.3151C>T (p.Arg1051Cys)	RYR2 (R1051C)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +7 more	GConflicting classifications of pathogenicity
Select item 43765	NM_001035.3(RYR2):c.3152G>A (p.Arg1051His)	RYR2 (R1051H)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GConflicting classifications of pathogenicity
Select item 296718	NM_001035.3(RYR2):c.3181G>A (p.Gly1061Ser)	RYR2 (G1061S)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +2 more	GUncertain significance
Select item 1172224	NM_001035.3(RYR2):c.3270C>T (p.Ala1090=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 43770	NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val)	RYR2 (A1136V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +6 more	GBenign/Likely benign
Select item 36741	NM_001035.3(RYR2):c.3599-9del	RYR2	Deletion (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 138943	NM_001035.3(RYR2):c.3888C>T (p.Asn1296=)	LOC126806067, RYR2	Single nucleotide variant (synonymous variant)	RYR2-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 1284371	NM_001035.3(RYR2):c.4148G>A (p.Arg1383His)	LOC126806067, RYR2 (R1383H)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +3 more	GConflicting classifications of pathogenicity
Select item 43782	NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly)	RYR2 (S1400G)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +7 more	GBenign/Likely benign
Select item 43784	NM_001035.3(RYR2):c.4596+12G>A	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GBenign/Likely benign
Select item 43786	NM_001035.3(RYR2):c.4597-11del	RYR2	Deletion	Catecholaminergic polymorphic ventricular tachycardia 1 +6 more	GBenign/Likely benign
Select item 43787	NM_001035.3(RYR2):c.4605G>A (p.Pro1535=)	RYR2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 2 +6 more	GBenign/Likely benign
Select item 43792	NM_001035.3(RYR2):c.4684-5G>C	RYR2	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 740067	NM_001035.3(RYR2):c.4755C>T (p.Arg1585=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia +1 more	GLikely benign
Select item 43797	NM_001035.3(RYR2):c.4989C>T (p.Ala1663=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GBenign/Likely benign
Select item 43805	NM_001035.3(RYR2):c.5400A>G (p.Lys1800=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +6 more	GBenign
Select item 705932	NM_001035.3(RYR2):c.5454T>C (p.Phe1818=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 36745	NM_001035.3(RYR2):c.5586C>T (p.Asp1862=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 138946	NM_001035.3(RYR2):c.5613C>T (p.Asp1871=)	RYR2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 43807	NM_001035.3(RYR2):c.5619A>G (p.Ala1873=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 36746	NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu)	RYR2 (G1885E)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +6 more	GBenign
Select item 191483	NM_001035.3(RYR2):c.5923A>G (p.Met1975Val)	RYR2 (M1975V)	Single nucleotide variant (missense variant)	Conduction disorder of the heart +5 more	GConflicting classifications of pathogenicity
Select item 138947	NM_001035.3(RYR2):c.6440+20C>T	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GBenign
Select item 138948	NM_001035.3(RYR2):c.6441-19C>T	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GBenign
Select item 201175	NM_001035.3(RYR2):c.6738G>T (p.Ser2246=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GBenign/Likely benign
Select item 1284872	NM_001035.3(RYR2):c.6764T>A (p.Leu2255Ter)	RYR2 (L2255*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 43819	NM_001035.3(RYR2):c.6906T>C (p.Leu2302=)	RYR2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 2 +7 more	GBenign
Select item 43820	NM_001035.3(RYR2):c.6928+4G>A	RYR2	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 43821	NM_001035.3(RYR2):c.7038A>C (p.Ala2346=)	RYR2	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 257217	NM_001035.3(RYR2):c.7342+16A>G	RYR2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 36748	NM_001035.3(RYR2):c.7365C>T (p.Asp2455=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 36749	NM_001035.3(RYR2):c.7488C>T (p.Leu2496=)	RYR2	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 1284550	NM_001035.3(RYR2):c.7697G>C (p.Arg2566Pro)	RYR2 (R2566P)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 43827	NM_001035.3(RYR2):c.7806C>T (p.His2602=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GBenign
Select item 378490	NM_001035.3(RYR2):c.7824+20G>A	RYR2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 180497	NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp)	RYR2 (E2715D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 197961	NM_001035.3(RYR2):c.8147A>T (p.Lys2716Ile)	RYR2 (K2716I)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 43828	NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr)	RYR2 (I2721T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +6 more	GConflicting classifications of pathogenicity
Select item 43832	NM_001035.3(RYR2):c.8437-7dup	RYR2	Duplication	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GBenign/Likely benign
Select item 43833	NM_001035.3(RYR2):c.8448C>T (p.Asp2816=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +6 more	GBenign
Select item 282719	NM_001035.3(RYR2):c.8831-9A>C	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia +10 more	GConflicting classifications of pathogenicity
Select item 36750	NM_001035.3(RYR2):c.8873A>G (p.Gln2958Arg)	RYR2 (Q2958R)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 43835	NM_001035.3(RYR2):c.9067+12C>T	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GConflicting classifications of pathogenicity
Select item 43836	NM_001035.3(RYR2):c.9318T>G (p.Ser3106=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +8 more	GBenign/Likely benign
Select item 43837	NM_001035.3(RYR2):c.9449+8T>A	RYR2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 2 +4 more	GBenign
Select item 43838	NM_001035.3(RYR2):c.9450-3T>C	RYR2	Single nucleotide variant (intron variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 43839	NM_001035.3(RYR2):c.9519T>C (p.Thr3173=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 138951	NM_001035.3(RYR2):c.9672C>T (p.Ser3224=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia +4 more	GBenign/Likely benign
Select item 412820	NM_001035.3(RYR2):c.9963G>A (p.Pro3321=)	RYR2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 2 +5 more	GConflicting classifications of pathogenicity
Select item 138952	NM_001035.3(RYR2):c.10017C>T (p.His3339=)	RYR2	Single nucleotide variant (synonymous variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 1283367	NM_001035.3(RYR2):c.10143-18A>G	RYR2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 138953	NM_001035.3(RYR2):c.10221G>A (p.Ser3407=)	RYR2	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 36728	NM_001035.3(RYR2):c.10230+20T>C	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GBenign/Likely benign
Select item 138954	NM_001035.3(RYR2):c.10231-5C>T	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GConflicting classifications of pathogenicity
Select item 36729	NM_001035.3(RYR2):c.10254C>T (p.Asn3418=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 43698	NM_001035.3(RYR2):c.10324-4A>G	RYR2	Single nucleotide variant (intron variant)	RYR2-related disorder +6 more	GConflicting classifications of pathogenicity

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