ClinVar for MedGen (Select 318748) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24422001.	NM_001035.3(RYR2):c.14751T>G (p.Asn4917Lys) GRCh37: Chr1:237993925 GRCh38: Chr1:237830625	RYR2	N4917K	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 24418022.	NM_001035.3(RYR2):c.11805G>C (p.Leu3935Phe) GRCh37: Chr1:237941995 GRCh38: Chr1:237778695	RYR2	L3935F	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic (Nov 3, 2022)	criteria provided, single submitter
Select item 17099043.	NM_001035.3(RYR2):c.1853G>T (p.Cys618Phe) GRCh37: Chr1:237656279 GRCh38: Chr1:237492979	RYR2	C618F	Arrhythmogenic right ventricular dysplasia 2	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 17099034.	NM_001035.3(RYR2):c.5962T>C (p.Cys1988Arg) GRCh37: Chr1:237787110 GRCh38: Chr1:237623810	RYR2	C1988R	Arrhythmogenic right ventricular dysplasia 2	Uncertain significance (Aug 23, 2021)	criteria provided, single submitter
Select item 17096005.	NM_001035.3(RYR2):c.8960G>A (p.Ser2987Asn) GRCh37: Chr1:237843820 GRCh38: Chr1:237680520	RYR2	S2987N	Arrhythmogenic right ventricular dysplasia 2	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 17093216.	NM_001035.3(RYR2):c.1818A>C (p.Arg606Ser) GRCh37: Chr1:237655215 GRCh38: Chr1:237491915	RYR2	R606S	Arrhythmogenic right ventricular dysplasia 2	Uncertain significance (Mar 16, 2022)	criteria provided, single submitter
Select item 17091757.	NM_001035.3(RYR2):c.14014A>T (p.Met4672Leu) GRCh37: Chr1:237961394 GRCh38: Chr1:237798094	RYR2	M4672L	Arrhythmogenic right ventricular dysplasia 2	Uncertain significance (Mar 3, 2022)	criteria provided, single submitter
Select item 16965448.	NM_001035.3(RYR2):c.8437-1390C>T GRCh37: Chr1:237828422 GRCh38: Chr1:237665122	RYR2		Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Jul 16, 2021)	criteria provided, single submitter
Select item 16913059.	NM_001035.3(RYR2):c.6484A>C (p.Met2162Leu) GRCh37: Chr1:237794770 GRCh38: Chr1:237631470	RYR2	M2162L	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 167795410.	NM_001035.3(RYR2):c.808C>T (p.His270Tyr) GRCh37: Chr1:237580383 GRCh38: Chr1:237417083	RYR2	H270Y	not provided, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Feb 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167764411.	NM_001035.3(RYR2):c.14843G>A (p.Cys4948Tyr) GRCh37: Chr1:237995886 GRCh38: Chr1:237832586	RYR2	C4948Y	not provided, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Nov 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 158831312.	NM_001035.3(RYR2):c.1320G>A (p.Ala440=) GRCh37: Chr1:237617718 GRCh38: Chr1:237454418	RYR2		Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2	Likely benign (Jul 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 149450713.	NM_001035.3(RYR2):c.6322A>G (p.Ile2108Val) GRCh37: Chr1:237791262 GRCh38: Chr1:237627962	RYR2	I2108V	Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2	Uncertain significance (Dec 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 149171914.	NM_001035.3(RYR2):c.9693G>A (p.Met3231Ile) GRCh37: Chr1:237870361 GRCh38: Chr1:237707061	RYR2	M3231I	Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2	Uncertain significance (Oct 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 148058115.	NM_001035.3(RYR2):c.11623G>T (p.Val3875Leu) GRCh37: Chr1:237935377 GRCh38: Chr1:237772077	RYR2	V3875L	Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2	Likely pathogenic (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 146911916.	NM_001035.3(RYR2):c.14080T>G (p.Leu4694Val) GRCh37: Chr1:237961460 GRCh38: Chr1:237798160	RYR2	L4694V	Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2	Uncertain significance (May 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145083117.	NM_001035.3(RYR2):c.7940G>A (p.Gly2647Asp) GRCh37: Chr1:237817689 GRCh38: Chr1:237654389	RYR2	G2647D	Catecholaminergic polymorphic ventricular tachycardia 1, not provided, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144196518.	NM_001035.3(RYR2):c.10837A>G (p.Arg3613Gly) GRCh37: Chr1:237890498 GRCh38: Chr1:237727198	RYR2	R3613G	Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2	Uncertain significance (Dec 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 144053819.	NM_001035.3(RYR2):c.8543A>G (p.Tyr2848Cys) GRCh37: Chr1:237831211 GRCh38: Chr1:237667911	RYR2	Y2848C	Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2	Uncertain significance (Dec 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 143688820.	NM_001035.3(RYR2):c.596G>T (p.Gly199Val) GRCh37: Chr1:237550600 GRCh38: Chr1:237387300	RYR2	G199V	Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2	Uncertain significance (Sep 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 143463021.	NM_001035.3(RYR2):c.12861C>G (p.Tyr4287Ter) GRCh37: Chr1:237947873 GRCh38: Chr1:237784573	LOC126806068, RYR2	Y4287*	Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2	Uncertain significance (Mar 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142810922.	NM_001035.3(RYR2):c.9787A>T (p.Met3263Leu) GRCh37: Chr1:237870455 GRCh38: Chr1:237707155	RYR2	M3263L	Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2	Uncertain significance (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140984423.	NM_001035.3(RYR2):c.2641A>G (p.Ile881Val) GRCh37: Chr1:237670037 GRCh38: Chr1:237506737	RYR2	I881V	Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Oct 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140467424.	NM_001035.3(RYR2):c.13984G>C (p.Gly4662Arg) GRCh37: Chr1:237961364 GRCh38: Chr1:237798064	RYR2	G4662R	Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Nov 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 139713225.	NM_001035.3(RYR2):c.6938T>C (p.Val2313Ala) GRCh37: Chr1:237802324 GRCh38: Chr1:237639024	RYR2	V2313A	not provided, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Jan 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135996726.	NM_001035.3(RYR2):c.392G>A (p.Cys131Tyr) GRCh37: Chr1:237538024 GRCh38: Chr1:237374724	RYR2	C131Y	Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Sep 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 134947627.	NM_001035.3(RYR2):c.4294A>G (p.Ile1432Val) GRCh37: Chr1:237756794 GRCh38: Chr1:237593494	RYR2	I1432V	Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Dec 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 133905728.	NM_001035.3(RYR2):c.13900G>A (p.Val4634Ile) GRCh37: Chr1:237957284 GRCh38: Chr1:237793984	RYR2	V4634I	Arrhythmogenic right ventricular dysplasia 2	Uncertain significance	criteria provided, single submitter
Select item 133318129.	NM_015978.3(TNNI3K):c.1538T>C (p.Leu513Pro) GRCh37: Chr1:74835140 GRCh38: Chr1:74369456	FPGT-TNNI3K, TNNI3K	L513P, L614P	Arrhythmogenic right ventricular dysplasia 2	Likely pathogenic (Oct 20, 2021)	criteria provided, single submitter
Select item 133260830.	NM_001035.3(RYR2):c.6911T>C (p.Phe2304Ser) GRCh37: Chr1:237801775 GRCh38: Chr1:237638475	RYR2	F2304S	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133251731.	NM_001035.3(RYR2):c.13734G>A (p.Leu4578=) GRCh37: Chr1:237955575 GRCh38: Chr1:237792275	RYR2		Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Likely benign (Jul 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 133223632.	NM_001035.3(RYR2):c.12664G>A (p.Glu4222Lys) GRCh37: Chr1:237947676 GRCh38: Chr1:237784376	LOC126806068, RYR2	E4222K	Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Oct 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 133021533.	NM_001035.3(RYR2):c.1646C>T (p.Ala549Val) GRCh37: Chr1:237632425 GRCh38: Chr1:237469125	RYR2	A549V	Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic	criteria provided, single submitter
Select item 132663034.	NM_001035.3(RYR2):c.3304T>G (p.Tyr1102Asp) GRCh37: Chr1:237729956 GRCh38: Chr1:237566656	RYR2	Y1102D	not provided, Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Sep 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 131571935.	NM_001035.3(RYR2):c.5662C>T (p.Arg1888Trp) GRCh37: Chr1:237778090 GRCh38: Chr1:237614790	RYR2	R1888W	Cardiovascular phenotype, not provided, Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Oct 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 117495036.	NM_001035.3(RYR2):c.8366T>C (p.Ile2789Thr) GRCh37: Chr1:237824177 GRCh38: Chr1:237660877	RYR2	I2789T	not provided, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2	Uncertain significance (Oct 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 117217837.	NM_001035.3(RYR2):c.824G>A (p.Trp275Ter) GRCh37: Chr1:237580399 GRCh38: Chr1:237417099	RYR2	W275*	Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2	Uncertain significance (Sep 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117166838.	NM_001035.3(RYR2):c.3414T>A (p.Asp1138Glu) GRCh37: Chr1:237730066 GRCh38: Chr1:237566766	RYR2	D1138E	Cardiomyopathy, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Oct 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 106401939.	NM_001035.3(RYR2):c.9686C>T (p.Thr3229Ile) GRCh37: Chr1:237870354 GRCh38: Chr1:237707054	RYR2	T3229I	Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Sep 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 106053940.	NM_001035.3(RYR2):c.5311A>G (p.Ile1771Val) GRCh37: Chr1:237777739 GRCh38: Chr1:237614439	RYR2	I1771V	Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Conflicting interpretations of pathogenicity (Feb 15, 2022)	criteria provided, conflicting interpretations
Select item 104642941.	NM_001035.3(RYR2):c.6811G>T (p.Gly2271Cys) GRCh37: Chr1:237801675 GRCh38: Chr1:237638375	RYR2	G2271C	Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Dec 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 104462542.	NM_001035.3(RYR2):c.1043G>A (p.Gly348Asp) GRCh37: Chr1:237604656 GRCh38: Chr1:237441356	RYR2	G348D	not provided, Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 104323643.	NM_001035.3(RYR2):c.995G>A (p.Arg332Gln) GRCh37: Chr1:237586538 GRCh38: Chr1:237423238	RYR2	R332Q	Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Oct 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 103690644.	NM_001035.3(RYR2):c.9703A>G (p.Met3235Val) GRCh37: Chr1:237870371 GRCh38: Chr1:237707071	RYR2	M3235V	Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Nov 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 101976745.	NM_001035.3(RYR2):c.4910+3C>G GRCh37: Chr1:237774291 GRCh38: Chr1:237610991	RYR2		Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 101464846.	NM_001035.3(RYR2):c.12865A>G (p.Ser4289Gly) GRCh37: Chr1:237947877 GRCh38: Chr1:237784577	LOC126806068, RYR2	S4289G	Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Oct 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 101398947.	NM_001035.3(RYR2):c.2416G>C (p.Gly806Arg) GRCh37: Chr1:237666608 GRCh38: Chr1:237503308	RYR2	G806R	Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Jul 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100324548.	NM_001035.3(RYR2):c.12638A>G (p.Glu4213Gly) GRCh37: Chr1:237947650 GRCh38: Chr1:237784350	LOC126806068, RYR2	E4213G	Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2	Uncertain significance (Mar 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100288149.	NM_001035.3(RYR2):c.10612A>C (p.Thr3538Pro) GRCh37: Chr1:237886485 GRCh38: Chr1:237723185	RYR2	T3538P	Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 100176850.	NM_001035.3(RYR2):c.4457A>G (p.Tyr1486Cys) GRCh37: Chr1:237758818 GRCh38: Chr1:237595518	RYR2	Y1486C	Cardiomyopathy, Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2	Uncertain significance (Sep 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100062751.	NM_001035.3(RYR2):c.1316A>C (p.Lys439Thr) GRCh37: Chr1:237617714 GRCh38: Chr1:237454414	RYR2	K439T	Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2	Uncertain significance (Sep 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 98314752.	NM_001035.3(RYR2):c.6202C>T (p.Arg2068Ter) GRCh37: Chr1:237791142 GRCh38: Chr1:237627842	RYR2	R2068*	Arrhythmogenic right ventricular dysplasia 2	Pathogenic (Jan 1, 2019)	criteria provided, single submitter
Select item 98263453.	NM_001035.3(RYR2):c.8659dup (p.Glu2887fs) GRCh37: Chr1:237837463-237837464 GRCh38: Chr1:237674163-237674164	RYR2	E2887fs	Arrhythmogenic right ventricular dysplasia 2	Likely pathogenic (Jan 1, 2019)	criteria provided, single submitter
Select item 97001754.	NM_001035.3(RYR2):c.14161T>C (p.Tyr4721His) GRCh37: Chr1:237969446 GRCh38: Chr1:237806146	RYR2	Y4721H	Catecholaminergic polymorphic ventricular tachycardia	Uncertain significance (Nov 18, 2019)	criteria provided, single submitter
Select item 96964255.	NM_001035.3(RYR2):c.13615A>C (p.Ser4539Arg) GRCh37: Chr1:237955456 GRCh38: Chr1:237792156	RYR2	S4539R	Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2	Uncertain significance (Oct 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 95986656.	NM_001035.3(RYR2):c.1179G>A (p.Met393Ile) GRCh37: Chr1:237608709 GRCh38: Chr1:237445409	RYR2	M393I	Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Uncertain significance (Sep 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 94933357.	NM_001035.3(RYR2):c.5671G>A (p.Glu1891Lys) GRCh37: Chr1:237778099 GRCh38: Chr1:237614799	RYR2	E1891K	Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Conflicting interpretations of pathogenicity (Aug 31, 2022)	criteria provided, conflicting interpretations
Select item 94188058.	NM_001035.3(RYR2):c.7895C>T (p.Ala2632Val) GRCh37: Chr1:237817644 GRCh38: Chr1:237654344	RYR2	A2632V	Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93517459.	NM_001035.3(RYR2):c.2545G>A (p.Asp849Asn) GRCh37: Chr1:237666737 GRCh38: Chr1:237503437	RYR2	D849N	not provided, Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Conflicting interpretations of pathogenicity (Jan 24, 2023)	criteria provided, conflicting interpretations
Select item 93345760.	NM_001035.3(RYR2):c.80C>G (p.Thr27Ser) GRCh37: Chr1:237433828 GRCh38: Chr1:237270528	RYR2	T27S	Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Uncertain significance (Apr 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92825861.	NM_001035.3(RYR2):c.3244G>A (p.Gly1082Arg) GRCh37: Chr1:237729896 GRCh38: Chr1:237566596	RYR2	G1082R	Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Uncertain significance (Jan 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92771262.	NM_001035.3(RYR2):c.12920G>A (p.Arg4307His) GRCh37: Chr1:237947932 GRCh38: Chr1:237784632	LOC126806068, RYR2	R4307H	Cardiovascular phenotype, Cardiomyopathy, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 92766063.	NM_001035.3(RYR2):c.14217dup (p.Ala4740fs) GRCh37: Chr1:237969493-237969494 GRCh38: Chr1:237806193-237806194	RYR2	A4740fs	Cardiomyopathy, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Mar 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92749864.	NM_001035.3(RYR2):c.3167C>T (p.Thr1056Met) GRCh37: Chr1:237713944 GRCh38: Chr1:237550644	RYR2	T1056M	Cardiomyopathy, not provided, Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Uncertain significance (Jan 19, 2023)	criteria provided, multiple submitters, no conflicts
Select item 92747365.	NM_001035.3(RYR2):c.13630G>A (p.Val4544Met) GRCh37: Chr1:237955471 GRCh38: Chr1:237792171	RYR2	V4544M	Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Uncertain significance (May 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92733266.	NM_001035.3(RYR2):c.10663G>A (p.Ala3555Thr) GRCh37: Chr1:237886536 GRCh38: Chr1:237723236	RYR2	A3555T	Cardiomyopathy, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Nov 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 92691967.	NM_001035.3(RYR2):c.2275T>G (p.Leu759Val) GRCh37: Chr1:237664082 GRCh38: Chr1:237500782	RYR2	L759V	Cardiomyopathy, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Jul 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 92639468.	NM_001035.3(RYR2):c.7501T>G (p.Ser2501Ala) GRCh37: Chr1:237811902 GRCh38: Chr1:237648602	RYR2	S2501A	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy	Uncertain significance (Jul 21, 2021)	criteria provided, multiple submitters, no conflicts
Select item 92622769.	NM_001035.3(RYR2):c.2459C>G (p.Ala820Gly) GRCh37: Chr1:237666651 GRCh38: Chr1:237503351	RYR2	A820G	Cardiomyopathy, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92613170.	NM_001035.3(RYR2):c.4531G>T (p.Val1511Leu) GRCh37: Chr1:237758892 GRCh38: Chr1:237595592	RYR2	V1511L	Cardiomyopathy, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Sep 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 92603671.	NM_001035.3(RYR2):c.6772C>T (p.Arg2258Cys) GRCh37: Chr1:237798272 GRCh38: Chr1:237634972	RYR2	R2258C	Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Feb 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92603372.	NM_001035.3(RYR2):c.6849G>C (p.Lys2283Asn) GRCh37: Chr1:237801713 GRCh38: Chr1:237638413	RYR2	K2283N	Cardiomyopathy, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Jul 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 92575073.	NM_001035.3(RYR2):c.5509G>A (p.Glu1837Lys) GRCh37: Chr1:237777937 GRCh38: Chr1:237614637	RYR2	E1837K	Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Conflicting interpretations of pathogenicity (Mar 18, 2022)	criteria provided, conflicting interpretations
Select item 92549474.	NM_001035.3(RYR2):c.6233C>T (p.Pro2078Leu) GRCh37: Chr1:237791173 GRCh38: Chr1:237627873	RYR2	P2078L	Cardiovascular phenotype, Cardiomyopathy, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Jun 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92536775.	NM_001035.3(RYR2):c.13061T>G (p.Leu4354Arg) GRCh37: Chr1:237948073 GRCh38: Chr1:237784773	LOC126806068, RYR2	L4354R	Cardiomyopathy, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Aug 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 92487776.	NM_001035.3(RYR2):c.1556G>C (p.Gly519Ala) GRCh37: Chr1:237619979 GRCh38: Chr1:237456679	RYR2	G519A	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy	Uncertain significance (Aug 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 92371777.	NM_001035.3(RYR2):c.5525T>C (p.Ile1842Thr) GRCh37: Chr1:237777953 GRCh38: Chr1:237614653	RYR2	I1842T	Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Nov 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 92354978.	NM_001035.3(RYR2):c.1864G>A (p.Gly622Arg) GRCh37: Chr1:237656290 GRCh38: Chr1:237492990	RYR2	G622R	Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (May 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92352079.	NM_001035.3(RYR2):c.1964T>C (p.Met655Thr) GRCh37: Chr1:237659813 GRCh38: Chr1:237496513	RYR2	M655T	Cardiomyopathy, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Oct 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 92294880.	NM_001035.3(RYR2):c.12192A>C (p.Glu4064Asp) GRCh37: Chr1:237947204 GRCh38: Chr1:237783904	RYR2	E4064D	Cardiomyopathy, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Aug 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 92294481.	NM_001035.3(RYR2):c.14151C>T (p.Asn4717=) GRCh37: Chr1:237965216 GRCh38: Chr1:237801916	RYR2		Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Conflicting interpretations of pathogenicity (Apr 1, 2022)	criteria provided, conflicting interpretations
Select item 92251582.	NM_001035.3(RYR2):c.12770G>A (p.Arg4257Gln) GRCh37: Chr1:237947782 GRCh38: Chr1:237784482	LOC126806068, RYR2	R4257Q	Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Mar 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92223883.	NM_001035.3(RYR2):c.5917A>G (p.Ile1973Val) GRCh37: Chr1:237787065 GRCh38: Chr1:237623765	RYR2	I1973V	Cardiomyopathy, Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Aug 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92109484.	NM_001035.3(RYR2):c.7570G>A (p.Val2524Ile) GRCh37: Chr1:237813234 GRCh38: Chr1:237649934	RYR2	V2524I	Cardiomyopathy, Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Sep 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92084985.	NM_001035.3(RYR2):c.10529G>T (p.Arg3510Leu) GRCh37: Chr1:237881796 GRCh38: Chr1:237718496	RYR2	R3510L	not specified, Cardiomyopathy, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91902486.	NM_001035.3(RYR2):c.5600A>C (p.Glu1867Ala) GRCh37: Chr1:237778028 GRCh38: Chr1:237614728	RYR2	E1867A	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy	Uncertain significance (Sep 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91894287.	NM_001035.3(RYR2):c.5821C>T (p.Arg1941Cys) GRCh37: Chr1:237780691 GRCh38: Chr1:237617391	RYR2	R1941C	Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Mar 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91885588.	NM_001035.3(RYR2):c.4161-5T>C GRCh37: Chr1:237755034 GRCh38: Chr1:237591734	RYR2		Cardiovascular phenotype, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Sep 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91873089.	NM_001035.3(RYR2):c.14062C>G (p.Pro4688Ala) GRCh37: Chr1:237961442 GRCh38: Chr1:237798142	RYR2	P4688A	Cardiovascular phenotype, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy	Uncertain significance (Jul 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91872990.	NM_001035.3(RYR2):c.1559G>T (p.Arg520Leu) GRCh37: Chr1:237619982 GRCh38: Chr1:237456682	RYR2	R520L	Cardiovascular phenotype, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy	Uncertain significance (Jul 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91869091.	NM_001035.3(RYR2):c.2353G>A (p.Asp785Asn) GRCh37: Chr1:237664160 GRCh38: Chr1:237500860	RYR2	D785N	Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91839592.	NM_001035.3(RYR2):c.7750A>G (p.Met2584Val) GRCh37: Chr1:237814727 GRCh38: Chr1:237651427	RYR2	M2584V	Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Sep 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91832693.	NM_001035.3(RYR2):c.2617G>A (p.Val873Met) GRCh37: Chr1:237670013 GRCh38: Chr1:237506713	RYR2	V873M	Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87691794.	NM_001035.3(RYR2):c.*1268G>A GRCh37: Chr1:237997215 GRCh38: Chr1:237833915	RYR2		Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87681695.	NM_001035.3(RYR2):c.*55T>C GRCh37: Chr1:237996002 GRCh38: Chr1:237832702	RYR2		Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 87648096.	NM_001035.3(RYR2):c.7897G>A (p.Ala2633Thr) GRCh37: Chr1:237817646 GRCh38: Chr1:237654346	RYR2	A2633T	Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2	Uncertain significance (Mar 24, 2020)	criteria provided, multiple submitters, no conflicts
Select item 87647997.	NM_001035.3(RYR2):c.7634T>C (p.Ile2545Thr) GRCh37: Chr1:237813298 GRCh38: Chr1:237649998	RYR2	I2545T	Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87643398.	NM_001035.3(RYR2):c.7035A>T (p.Ala2345=) GRCh37: Chr1:237802421 GRCh38: Chr1:237639121	RYR2		Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2	Conflicting interpretations of pathogenicity (Mar 11, 2019)	criteria provided, conflicting interpretations
Select item 87635499.	NM_001035.3(RYR2):c.4703C>T (p.Ala1568Val) GRCh37: Chr1:237774081 GRCh38: Chr1:237610781	RYR2	A1568V	Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Arrhythmogenic right ventricular dysplasia 2	Uncertain significance (Jun 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 876308100.	NM_001035.3(RYR2):c.3766C>A (p.Pro1256Thr) GRCh37: Chr1:237753260 GRCh38: Chr1:237589960	LOC126806067, RYR2	P1256T	Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Conflicting interpretations of pathogenicity (Aug 24, 2021)	criteria provided, conflicting interpretations

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