Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn)	SNV Germline	Chr1:237500774	Conflicting classifications of pathogenicity	not specified Ventricular fibrillation, paroxysmal familial, type 1 Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA008736	rs_193922623	12 SubmittersRCV000036714 RCV000157446 RCV000242970 RCV000287643 RCV001093912 RCV000786207 RCV001181067
NM_001035.3(RYR2):c.4069G>C (p.Asp1357His)	SNV Germline	Chr1:237590901	Conflicting classifications of pathogenicity	Cardiomyopathy not specified Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA009446	rs_193922626	7 SubmittersRCV000030422 RCV000154818 RCV001097194 RCV001097193 RCV003996140 RCV004018690
NM_001035.3(RYR2):c.5586C>T (p.Asp1862=)	SNV Germline	Chr1:237614714	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Cardiovascular phenotype Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Cardiac arrhythmia Condition: not provided Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA009888	rs_193922628	15 SubmittersRCV000036768 RCV000272540 RCV000252666 RCV000769786 RCV001093868 RCV001841543 RCV001530065 RCV003996141
NM_001035.3(RYR2):c.10324-4A>G	SNV Germline	Chr1:237717194	Conflicting classifications of pathogenicity	not specified Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Cardiomyopathy Condition: not provided Arrhythmogenic right ventricular dysplasia 2 RYR2-related disorder	Criteria Provided Conflicting Classifications	CA006610	rs_72751287	20 SubmittersRCV000036649 RCV000202863 RCV000246904 RCV000768787 RCV001528231 RCV001097852 RCV004534774
NM_001035.3(RYR2):c.10641G>A (p.Thr3547=)	SNV Germline	Chr1:237723214	Conflicting classifications of pathogenicity	not specified Condition: not provided Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA006725	rs_144256966	11 SubmittersRCV000036652 RCV000723746 RCV000391538 RCV000769800 RCV001093894 RCV003996236
NM_001035.3(RYR2):c.11398T>A (p.Cys3800Ser)	SNV Germline	Chr1:237759848	Conflicting classifications of pathogenicity	not specified 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 Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA006987	rs_397516504	6 SubmittersRCV000036661 RCV001525529 RCV002496571 RCV003996240 RCV004566804 RCV002513397
NM_001035.3(RYR2):c.1163A>G (p.Gln388Arg)	SNV Germline	Chr1:237441476	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA007114	rs_397516506	4 SubmittersRCV000036665 RCV002482979 RCV002513400 RCV003996243
NM_001035.3(RYR2):c.12047T>A (p.Phe4016Tyr)	SNV Germline	Chr1:237783759	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Criteria Provided Conflicting Classifications	CA007324	rs_375021201	8 SubmittersRCV000036670 RCV000378772 RCV001182008 RCV001093785 RCV000766732 RCV003996246 RCV004018804 RCV002482980
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=)	SNV Germline	Chr1:237783871	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 2 Condition: not provided Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA007352	rs_41267517	17 SubmittersRCV000036671 RCV000247809 RCV000349414 RCV000724810 RCV000769809 RCV001093786 RCV003996247
NM_001035.3(RYR2):c.13137C>A (p.Ile4379=)	SNV Germline	Chr1:237784849	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 2 Condition: not provided Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA007810	rs_369917806	10 SubmittersRCV000036675 RCV000617184 RCV001101824 RCV001529567 RCV000777845 RCV001101823 RCV003996249
NM_001035.3(RYR2):c.1548T>C (p.Asp516=)	SNV Germline	Chr1:237456671	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Condition: not provided Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA008488	rs_146129084	13 SubmittersRCV000036706 RCV000618567 RCV001100322 RCV001100323 RCV000771845 RCV001528256 RCV003996261
NM_001035.3(RYR2):c.2760G>A (p.Glu920=)	SNV Germline	Chr1:237511729	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Cardiovascular phenotype Condition: not provided Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA008950	rs_186181155	18 SubmittersRCV000036721 RCV000368575 RCV000618697 RCV000724532 RCV000769780 RCV001093756 RCV003996268
NM_001035.3(RYR2):c.3153C>T (p.Arg1051=)	SNV Germline	Chr1:237550630	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Cardiomyopathy Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA009112	rs_397516524	7 SubmittersRCV000036725 RCV000251649 RCV000769782 RCV001097096 RCV001097097
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly)	SNV Germline	Chr1:237566732	Conflicting classifications of pathogenicity	not specified Condition: not provided Sudden cardiac death Hypertrophic cardiomyopathy Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Sudden unexplained death Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA009209	rs_200525962	17 SubmittersRCV000036729 RCV000171762 RCV000157454 RCV001293091 RCV001098853 RCV001098854 RCV000769783 RCV001254751 RCV002453307
NM_001035.3(RYR2):c.4068C>T (p.Pro1356=)	SNV Germline	Chr1:237590900	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Condition: not provided Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia RYR2-related disorder	Criteria Provided Conflicting Classifications	CA009440	rs_199821105	9 SubmittersRCV000036739 RCV000405365 RCV001719733 RCV001189398 RCV001093761 RCV002321507 RCV003996279 RCV004739325
NM_001035.3(RYR2):c.4734C>T (p.Pro1578=)	SNV Germline	Chr1:237610812	Conflicting classifications of pathogenicity	not specified Condition: not provided Arrhythmogenic right ventricular dysplasia 2 Cardiovascular phenotype Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA009663	rs_201880756	9 SubmittersRCV000036755 RCV000589910 RCV000300038 RCV000620163 RCV000771249 RCV001093874 RCV003996285
NM_001035.3(RYR2):c.5619A>G (p.Ala1873=)	SNV Germline	Chr1:237614747	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Condition: not provided Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA009911	rs_373282364	15 SubmittersRCV000036769 RCV000245051 RCV000309384 RCV001093879 RCV000777598 RCV001528654 RCV003996292
NM_001035.3(RYR2):c.6337G>A (p.Val2113Met)	SNV Germline	Chr1:237627977	Conflicting classifications of pathogenicity	not specified Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Condition: not provided Cardiomyopathy Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA010110	rs_186906598	11 SubmittersRCV000036777 RCV000171764 RCV000620555 RCV000766718 RCV000769789 RCV001099125 RCV004803128
NM_001035.3(RYR2):c.684C>T (p.Leu228=)	SNV Germline	Chr1:237388094	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Condition: not provided Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA010348	rs_72549417	11 SubmittersRCV000036782 RCV000265346 RCV000589666 RCV000768754 RCV001093846 RCV003996296 RCV002362626
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr)	SNV Germline	Chr1:237657976	Conflicting classifications of pathogenicity	not specified Condition: not provided Wolff-Parkinson-White pattern Arrhythmogenic right ventricular cardiomyopathy Cardiovascular phenotype Cardiomyopathy Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia RYR2-related disorder	Criteria Provided Conflicting Classifications	CA010859	rs_201500134	19 SubmittersRCV000036794 RCV000227013 RCV000656198 RCV000590879 RCV000621651 RCV000771869 RCV001095884 RCV001095885 RCV004803129 RCV004541108
NM_001035.3(RYR2):c.8309T>C (p.Ile2770Thr)	SNV Germline	Chr1:237660820	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA010940	rs_397516550	7 SubmittersRCV000036796 RCV001095886 RCV001095887 RCV001175860 RCV002496576 RCV003996303 RCV004017312
NM_001035.3(RYR2):c.9067+12C>T	SNV Germline	Chr1:237687516	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA011108	rs_112365440	11 SubmittersRCV000036802 RCV001101435 RCV001101436 RCV001529841
NM_001035.3(RYR2):c.982G>A (p.Ala328Thr)	SNV Germline	Chr1:237423225	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic right ventricular dysplasia 2 Wolff-Parkinson-White pattern Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA011326	rs_201669522	9 SubmittersRCV000079381 RCV000391386 RCV000656194 RCV001093747 RCV001189215 RCV002498396 RCV003380409 RCV003997206
NM_001035.3(RYR2):c.5571G>A (p.Pro1857=)	SNV Germline	Chr1:237614699	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Condition: not provided Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA009882	rs_371934582	9 SubmittersRCV000151763 RCV000621601 RCV000402454 RCV001093867 RCV001190173 RCV003221817 RCV003997458
NM_001035.3(RYR2):c.10017C>T (p.His3339=)	SNV Germline	Chr1:237708973	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Cardiovascular phenotype Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia RYR2-related disorder	Criteria Provided Conflicting Classifications	CA006488	rs_376439588	13 SubmittersRCV000127846 RCV000263240 RCV000619991 RCV000858422 RCV001093729 RCV001186657 RCV003997463 RCV004544284
NM_001035.3(RYR2):c.10231-5C>T	SNV Germline	Chr1:237711740	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA006571	rs_186326951	12 SubmittersRCV000127848 RCV000373146 RCV000777784 RCV001093730 RCV001705921 RCV002371972
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln)	SNV Germline	Chr1:237548562	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 not specified Condition: not provided Cardiovascular phenotype Cardiomyopathy Arrhythmogenic right ventricular dysplasia 2	Criteria Provided Conflicting Classifications	CA009033	rs_149514924	15 SubmittersRCV000148833 RCV000182707 RCV000589142 RCV000619628 RCV000771801 RCV001102502
NM_001035.3(RYR2):c.649A>G (p.Ile217Val)	SNV Germline	Chr1:237387353	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA010179	rs_200642525	13 SubmittersRCV000151754 RCV000171760 RCV000619874 RCV000415633 RCV001171188 RCV001098450
NM_001035.3(RYR2):c.1612+13A>G	SNV Germline	Chr1:237456748	Conflicting classifications of pathogenicity	not specified Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA008512	rs_368200572	5 SubmittersRCV000156613 RCV000339701 RCV000393529 RCV001701536
NM_001035.3(RYR2):c.1939C>T (p.Arg647Cys)	SNV Germline	Chr1:237493065	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy Cardiovascular phenotype 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 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Arrhythmogenic right ventricular dysplasia 2	Criteria Provided Conflicting Classifications	CA008643	rs_202040519	9 SubmittersRCV000154813 RCV000656970 RCV000771900 RCV000619369 RCV002470780 RCV002478454 RCV003147363 RCV003147362
NM_001035.3(RYR2):c.2755G>A (p.Val919Met)	SNV Germline	Chr1:237511724	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA008944	rs_201079716	9 SubmittersRCV000154815 RCV000515405 RCV001186656 RCV002514976 RCV002433679 RCV001256781
NM_001035.3(RYR2):c.2935G>T (p.Ala979Ser)	SNV Germline	Chr1:237548459	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy	Criteria Provided Conflicting Classifications	CA008979	rs_202015519	7 SubmittersRCV000154816 RCV000246594 RCV000766712 RCV001100557 RCV001100558 RCV001178122
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg)	SNV Germline	Chr1:237595526	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Long QT syndrome Condition: not provided Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA009541	rs_200450676	12 SubmittersRCV000154819 RCV000515200 RCV000678836 RCV000725016 RCV000768765 RCV002326882 RCV002514978
NM_001035.3(RYR2):c.6689-12T>C	SNV Germline	Chr1:237634877	Conflicting classifications of pathogenicity	not specified Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA010256	rs_370972311	7 SubmittersRCV000151764 RCV000306276 RCV000405632 RCV000771789 RCV003221825
NM_001035.3(RYR2):c.9619A>G (p.Asn3207Asp)	SNV Germline	Chr1:237706987	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA011262	rs_372601642	8 SubmittersRCV000154822 RCV000266128 RCV000777709 RCV000618927 RCV001093778 RCV003998277
NM_001035.3(RYR2):c.10495-14A>G	SNV Germline	Chr1:237718448	Conflicting classifications of pathogenicity	not specified Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy	Criteria Provided Conflicting Classifications	CA006644	rs_727505057	4 SubmittersRCV000156487 RCV000346271 RCV000384549 RCV001185015
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys)	SNV Germline	Chr1:237785999	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Left ventricular noncompaction Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Condition: not provided Hypertrophic cardiomyopathy Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA007871	rs_571985775	15 SubmittersRCV000151775 RCV000577997 RCV000577938 RCV000578054 RCV000620731 RCV000766733 RCV000852418 RCV000777878 RCV003998229
NM_001035.3(RYR2):c.1822C>T (p.His608Tyr)	SNV Germline	Chr1:237491919	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA008596	rs_727504718	9 SubmittersRCV000156007 RCV000477834 RCV000766708 RCV001177069 RCV002515008 RCV002408693
NM_001035.3(RYR2):c.3054T>C (p.Tyr1018=)	SNV Germline	Chr1:237548578	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Cardiomyopathy Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA009048	rs_113422365	9 SubmittersRCV000154814 RCV000252643 RCV000777999 RCV001102503 RCV001102504 RCV003998274
NM_001035.3(RYR2):c.10231-4T>C	SNV Germline	Chr1:237711741	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 2 Condition: not provided Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA006564	rs_117180147	16 SubmittersRCV000154633 RCV000253861 RCV000333639 RCV000587853 RCV000768786 RCV001093782
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=)	SNV Germline	Chr1:237732051	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 RYR2-related disorder Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA006813	rs_370332882	17 SubmittersRCV000151772 RCV000229147 RCV000621644 RCV000769804 RCV001096209 RCV001096208 RCV004544362 RCV003998227
NM_001035.3(RYR2):c.1318G>A (p.Ala440Thr)	SNV Germline	Chr1:237454416	Conflicting classifications of pathogenicity	Long QT syndrome 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 Condition: not provided	Criteria Provided Conflicting Classifications	CA007818	rs_371878264	5 SubmittersRCV000157443 RCV002381509 RCV002516363 RCV002478470 RCV005051754
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp)	SNV Germline	Chr1:237657959	Conflicting classifications of pathogenicity	Primary dilated cardiomyopathy not specified Condition: not provided Cardiovascular phenotype Cardiomyopathy Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA010841	rs_200420897	15 SubmittersRCV000157460 RCV000212982 RCV000171765 RCV000618062 RCV000769797 RCV001095882 RCV001095883 RCV003998341
NM_001035.3(RYR2):c.4445G>A (p.Arg1482His)	SNV Germline	Chr1:237595506	Conflicting classifications of pathogenicity	Condition: not provided not specified Cardiomyopathy Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA009533	rs_373024059	9 SubmittersRCV000171763 RCV000212979 RCV000773225 RCV001098955 RCV001100766 RCV002326941
NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys)	SNV Germline	Chr1:237784631	Conflicting classifications of pathogenicity	Condition: not provided not specified Cardiovascular phenotype Cardiomyopathy Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 RYR2-related disorder	Criteria Provided Conflicting Classifications	CA007750	rs_200092869	11 SubmittersRCV000171768 RCV000212983 RCV000618657 RCV000776390 RCV001101822 RCV001101821 RCV004539578
NM_001035.3(RYR2):c.13712C>T (p.Thr4571Met)	SNV Germline	Chr1:237792253	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA008025	rs_200803276	8 SubmittersRCV000171689 RCV001179791 RCV002381553 RCV002478547 RCV002515251 RCV003995653
NM_001035.3(RYR2):c.3356G>A (p.Arg1119His)	SNV Germline	Chr1:237566708	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 not specified	Criteria Provided Conflicting Classifications	CA009195	rs_201312753	9 SubmittersRCV000724470 RCV000771974 RCV002321702 RCV002298503 RCV002517704 RCV003993857
NM_001035.3(RYR2):c.239A>G (p.Glu80Gly)	SNV Germline	Chr1:237330948	Pathogenic	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Single Submitter	CA008831	rs_794728706	2 SubmittersRCV000477870 RCV002516866
NM_001035.3(RYR2):c.527G>A (p.Arg176Gln)	SNV Germline	Chr1:237377386	Pathogenic	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Cardiovascular phenotype RYR2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA009819	rs_794728708	8 SubmittersRCV000182659 RCV000208033 RCV001332696 RCV002345634 RCV005222807
NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp)	SNV Germline	Chr1:237445488	Pathogenic	Condition: not provided Ventricular fibrillation Catecholaminergic polymorphic ventricular tachycardia Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Multiple Submitters No Conflicts	CA007622	rs_190140598	12 SubmittersRCV000182680 RCV000202619 RCV000219729 RCV000515377 RCV001194068 RCV002426877 RCV002470799
NM_001035.3(RYR2):c.1646C>T (p.Ala549Val)	SNV Germline	Chr1:237469125	Likely pathogenic	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Single Submitter	CA008543	rs_794728817	1 SubmittersRCV001801232
NM_001035.3(RYR2):c.2253T>G (p.Thr751=)	SNV Germline	Chr1:237500760	Conflicting classifications of pathogenicity	not specified Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA008732	rs_762905211	7 SubmittersRCV000182621 RCV001100450 RCV001102404 RCV001184503 RCV002444732 RCV003996726
NM_001035.3(RYR2):c.2574G>A (p.Thr858=)	SNV Germline	Chr1:237503466	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Cardiovascular phenotype Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA008888	rs_367992907	13 SubmittersRCV000182624 RCV000404420 RCV000619882 RCV000769778 RCV001093754 RCV001172025 RCV003996727
NM_001035.3(RYR2):c.3151C>T (p.Arg1051Cys)	SNV Germline	Chr1:237550628	Conflicting classifications of pathogenicity	Condition: not provided not specified Cardiomyopathy Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA009097	rs_533330664	11 SubmittersRCV000182708 RCV000456036 RCV001191860 RCV002254283 RCV002321722 RCV002516878 RCV003996752
NM_001035.3(RYR2):c.3517A>G (p.Met1173Val)	SNV Germline	Chr1:237569238	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA009247	rs_762372863	6 SubmittersRCV000182625 RCV001100668 RCV001100667 RCV001189913 RCV003996728 RCV005404352
NM_001035.3(RYR2):c.3950C>T (p.Thr1317Met)	SNV Germline	Chr1:237590782	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype 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	Criteria Provided Conflicting Classifications	CA009414	rs_752107643	4 SubmittersRCV000182717 RCV002354480 RCV002500539 RCV002515324
NM_001035.3(RYR2):c.4094C>T (p.Ala1365Val)	SNV Germline	Chr1:237590926	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Criteria Provided Conflicting Classifications	CA009452	rs_373261115	8 SubmittersRCV000182870 RCV000415707 RCV000777782 RCV001093762 RCV002321724 RCV003227703
NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser)	SNV Germline	Chr1:237602080	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Cardiomyopathy Arrhythmogenic right ventricular dysplasia 2 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA009626	rs_185237690	10 SubmittersRCV000490424 RCV000619293 RCV000776180 RCV001100767 RCV001704872 RCV003235105
NM_001035.3(RYR2):c.5373C>A (p.Thr1791=)	SNV Germline	Chr1:237614501	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA009837	rs_765283048	6 SubmittersRCV000182632 RCV000406951 RCV000777693 RCV001093820 RCV002345633 RCV003996731
NM_001035.3(RYR2):c.6532G>A (p.Val2178Ile)	SNV Germline	Chr1:237631518	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA010204	rs_794728821	3 SubmittersRCV000182874 RCV001253231 RCV005089919
NM_001035.3(RYR2):c.7160C>T (p.Ala2387Val)	SNV Germline	Chr1:237640941	Pathogenic/Likely pathogenic	Condition: not provided Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA010582	rs_794728754	5 SubmittersRCV000182758 RCV001535748 RCV002272163 RCV002372117
NM_001035.3(RYR2):c.7542G>A (p.Leu2514=)	SNV Germline	Chr1:237649906	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided Catecholaminergic polymorphic ventricular tachycardia RYR2-related disorder	Criteria Provided Conflicting Classifications	CA010733	rs_371088367	8 SubmittersRCV000182635 RCV000252731 RCV000343987 RCV000777732 RCV001093830 RCV003884379 RCV003996733 RCV004537529
NM_001035.3(RYR2):c.8262G>C (p.Gln2754His)	SNV Germline	Chr1:237660038	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Arrhythmogenic right ventricular dysplasia 2 Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA010917	rs_773748242	6 SubmittersRCV000182880 RCV001175683 RCV001337100 RCV002426879 RCV002515342 RCV003996798
NM_001035.3(RYR2):c.9655G>A (p.Val3219Met)	SNV Germline	Chr1:237707023	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA011287	rs_371147744	11 SubmittersRCV000216905 RCV000590419 RCV000768781 RCV001099559 RCV001099558 RCV002372115 RCV003996735
NM_001035.3(RYR2):c.12492G>A (p.Gln4164=)	SNV Germline	Chr1:237784204	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Cardiomyopathy Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA007543	rs_377293019	7 SubmittersRCV000182645 RCV000620224 RCV000771837 RCV001099829 RCV001099830 RCV003996736
NM_001035.3(RYR2):c.12858C>T (p.Ser4286=)	SNV Germline	Chr1:237784570	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA007721	rs_185482345	7 SubmittersRCV000182647 RCV000589602 RCV000778051 RCV001099836 RCV001099835 RCV004658979 RCV003996737
NM_001035.3(RYR2):c.13528G>T (p.Ala4510Ser)	SNV Germline	Chr1:237791480	Likely pathogenic	Condition: not provided Arrhythmogenic right ventricular dysplasia 2	Criteria Provided Multiple Submitters No Conflicts	CA007958	rs_397516510	2 SubmittersRCV000182838 RCV001254617
NM_001035.3(RYR2):c.5663G>A (p.Arg1888Gln)	SNV Germline	Chr1:237614791	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Primary familial hypertrophic cardiomyopathy Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA351717	rs_869025511	5 SubmittersRCV000375573 RCV000208027 RCV002298528 RCV000320906 RCV002347815
NM_001035.3(RYR2):c.12837G>A (p.Met4279Ile)	SNV Germline	Chr1:237784549	Conflicting classifications of pathogenicity	Primary dilated cardiomyopathy not specified Cardiovascular phenotype 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	Criteria Provided Conflicting Classifications	CA085245	rs_750117613	5 SubmittersRCV000208489 RCV001194102 RCV002381717 RCV002515553 RCV002494544
NM_001035.3(RYR2):c.8913T>C (p.Ile2971=)	SNV Germline	Chr1:237680473	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided Catecholaminergic polymorphic ventricular tachycardia RYR2-related disorder Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA087786	rs_755520825	10 SubmittersRCV000219778 RCV000393090 RCV000777731 RCV001093833 RCV000845308 RCV003997723 RCV004530315 RCV002372220
NM_001035.3(RYR2):c.9442G>A (p.Val3148Met)	SNV Germline	Chr1:237702052	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome RYR2-related disorder	Criteria Provided Conflicting Classifications	CA10576409	rs_876657994	9 SubmittersRCV000223326 RCV000771970 RCV003997755 RCV001249323 RCV001762465 RCV002444864 RCV002485398 RCV004739606
NM_001035.3(RYR2):c.11040-3C>T	SNV Germline	Chr1:237733702	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA10576411	rs_876657984	5 SubmittersRCV000222809 RCV001097952 RCV001097953 RCV001182284 RCV003997747
NM_001035.3(RYR2):c.13593G>A (p.Lys4531=)	SNV Germline	Chr1:237792134	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Condition: not provided Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA10576413	rs_548313130	9 SubmittersRCV000221328 RCV000263558 RCV001170491 RCV001706238 RCV002381735 RCV001093790 RCV003997716
NM_001035.3(RYR2):c.10035G>A (p.Arg3345=)	SNV Germline	Chr1:237708991	Conflicting classifications of pathogenicity	Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 not specified Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy RYR2-related disorder Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA084095	rs_754976419	8 SubmittersRCV000253028 RCV001096093 RCV000427858 RCV001096092 RCV001179774 RCV004542953 RCV003995719
NM_001035.3(RYR2):c.14220C>T (p.Ala4740=)	SNV Germline	Chr1:237806205	Conflicting classifications of pathogenicity	Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Condition: not provided Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA085611	rs_368971586	6 SubmittersRCV000253045 RCV001096511 RCV001096512 RCV001525672 RCV001705400 RCV003995733
NM_001035.3(RYR2):c.12627G>A (p.Ser4209=)	SNV Germline	Chr1:237784339	Conflicting classifications of pathogenicity	Cardiovascular phenotype Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA085204	rs_3753631	5 SubmittersRCV000247128 RCV001182015 RCV001099831 RCV001099832 RCV003999002
NM_001035.3(RYR2):c.13665C>T (p.Ile4555=)	SNV Germline	Chr1:237792206	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA085430	rs_375213838	7 SubmittersRCV000372481 RCV000388524 RCV001093792 RCV001181804 RCV003995768 RCV002379122
NM_001035.3(RYR2):c.1404G>A (p.Glu468=)	SNV Germline	Chr1:237454502	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA085551	rs_768538183	5 SubmittersRCV000328522 RCV001093800 RCV001188880 RCV003995808 RCV005480351
NM_001035.3(RYR2):c.1612+10A>G	SNV Germline	Chr1:237456745	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2	Criteria Provided Conflicting Classifications	CA10609549	rs_886046262	2 SubmittersRCV000282403 RCV000374594
NM_001035.3(RYR2):c.3105C>T (p.Tyr1035=)	SNV Germline	Chr1:237550582	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA086309	rs_747358776	4 SubmittersRCV000266767 RCV000321920 RCV002321973 RCV003995812
NM_001035.3(RYR2):c.4044G>A (p.Lys1348=)	SNV Germline	Chr1:237590876	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Cardiovascular phenotype Cardiomyopathy not specified Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided Catecholaminergic polymorphic ventricular tachycardia RYR2-related disorder	Criteria Provided Conflicting Classifications	CA086525	rs_755391572	9 SubmittersRCV000308159 RCV000617753 RCV000777776 RCV000605932 RCV001093870 RCV001532584 RCV003995814 RCV004739669
NM_001035.3(RYR2):c.8493T>C (p.Val2831=)	SNV Germline	Chr1:237666568	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA087653	rs_755660659	6 SubmittersRCV000276193 RCV000333568 RCV001179330 RCV001431862 RCV002446541 RCV005418064
NM_001035.3(RYR2):c.8515-7A>G	SNV Germline	Chr1:237667876	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia not specified	Criteria Provided Conflicting Classifications	CA087670	rs_766622060	5 SubmittersRCV000327567 RCV000384491 RCV001187867 RCV003995819 RCV003330632
NM_001035.3(RYR2):c.9755A>G (p.His3252Arg)	SNV Germline	Chr1:237707123	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA087952	rs_760379293	7 SubmittersRCV000336208 RCV000388355 RCV001178094 RCV003995821 RCV003362750 RCV003226918 RCV005407032
NM_001035.3(RYR2):c.9927A>G (p.Lys3309=)	SNV Germline	Chr1:237708883	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy not specified Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA087982	rs_184937795	6 SubmittersRCV000347849 RCV000404124 RCV001180286 RCV003330633 RCV004804984 RCV002379162
NM_001035.3(RYR2):c.10008G>A (p.Glu3336=)	SNV Germline	Chr1:237708964	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA084084	rs_753175584	5 SubmittersRCV000264362 RCV001093890 RCV001805006 RCV003995823 RCV005268587
NM_001035.3(RYR2):c.10962A>C (p.Glu3654Asp)	SNV Germline	Chr1:237732072	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 not specified Cardiomyopathy Condition: not provided Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA084638	rs_547005691	7 SubmittersRCV000298794 RCV001093733 RCV001582919 RCV001188871 RCV001764262 RCV002450844 RCV003995825
NM_001035.3(RYR2):c.-63G>T	SNV Germline	Chr1:237042459	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided Arrhythmogenic right ventricular dysplasia 2	Criteria Provided Conflicting Classifications	CA10609770	rs_578020342	2 SubmittersRCV000264698 RCV001668650 RCV000375824
NM_001035.3(RYR2):c.849-10T>C	SNV Germline	Chr1:237423082	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy	Criteria Provided Conflicting Classifications	CA087648	rs_771173251	3 SubmittersRCV000291767 RCV001093908 RCV001525478
NM_001035.3(RYR2):c.3400G>T (p.Ala1134Ser)	SNV Germline	Chr1:237566752	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA10609773	rs_886046265	6 SubmittersRCV000336721 RCV000372653 RCV001178100 RCV002450843 RCV002504044 RCV004804983
NM_001035.3(RYR2):c.9067+10C>T	SNV Germline	Chr1:237687514	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided not specified Cardiomyopathy	Criteria Provided Conflicting Classifications	CA087820	rs_372631657	8 SubmittersRCV000282361 RCV000335017 RCV001528938 RCV001175583 RCV001798778
NM_001035.3(RYR2):c.11766G>A (p.Glu3922=)	SNV Germline	Chr1:237773639	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Cardiovascular phenotype not specified Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Condition: not provided Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA085044	rs_774625105	10 SubmittersRCV000337602 RCV000621893 RCV001000975 RCV001093897 RCV001179551 RCV001553008 RCV003995828
NM_001035.3(RYR2):c.14808+12A>C	SNV Germline	Chr1:237831577	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2	Criteria Provided Conflicting Classifications	CA10609817	rs_886046281	2 SubmittersRCV000280510 RCV000349479
NM_001035.3(RYR2):c.577-14G>A	SNV Germline	Chr1:237387267	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 not specified Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia Condition: not provided	Criteria Provided Conflicting Classifications	CA086965	rs_148019277	7 SubmittersRCV000312964 RCV000351465 RCV000439987 RCV001178366 RCV003995803 RCV001699290
NM_001035.3(RYR2):c.828A>G (p.Arg276=)	SNV Germline	Chr1:237417103	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 not specified Cardiovascular phenotype Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided Catecholaminergic polymorphic ventricular tachycardia RYR2-related disorder	Criteria Provided Conflicting Classifications	CA087597	rs_180711819	9 SubmittersRCV000361184 RCV000432303 RCV000621348 RCV000768757 RCV001093847 RCV001718598 RCV003995805 RCV004543169
NM_001035.3(RYR2):c.2772G>A (p.Leu924=)	SNV Germline	Chr1:237511741	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Cardiovascular phenotype not specified Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy RYR2-related disorder Condition: not provided Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA086195	rs_780664060	11 SubmittersRCV000310234 RCV000617646 RCV000418654 RCV001093810 RCV001191830 RCV004739668 RCV001723881 RCV003995811
NM_001035.3(RYR2):c.5220T>G (p.Pro1740=)	SNV Germline	Chr1:237614348	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2	Criteria Provided Conflicting Classifications	CA10610619	rs_886046269	2 SubmittersRCV000282078 RCV000376490
NM_001035.3(RYR2):c.9601G>A (p.Val3201Met)	SNV Germline	Chr1:237706969	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA087934	rs_762549821	6 SubmittersRCV000324884 RCV000377072 RCV001192119 RCV001195553 RCV002379161
NM_001035.3(RYR2):c.9995C>T (p.Thr3332Met)	SNV Germline	Chr1:237708951	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA087992	rs_774437805	5 SubmittersRCV000361343 RCV001093889 RCV001187921 RCV002379163 RCV003995822
NM_001035.3(RYR2):c.13482T>C (p.Tyr4494=)	SNV Germline	Chr1:237791434	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA10610628	rs_886046279	3 SubmittersRCV000298647 RCV002379164 RCV000353478
NM_001035.3(RYR2):c.13718G>A (p.Arg4573His)	SNV Germline	Chr1:237792259	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Condition: not provided Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA085440	rs_371157286	8 SubmittersRCV000344574 RCV001093841 RCV001177067 RCV001590913 RCV002502178 RCV002379165 RCV003995832
NM_001035.3(RYR2):c.*711C>G	SNV Germline	Chr1:237833358	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA10610667	rs_544493822	2 SubmittersRCV000284444 RCV000376366 RCV002510838
NM_001035.3(RYR2):c.*1108A>G	SNV Germline	Chr1:237833755	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA10610682	rs_540171235	1 SubmittersRCV000345410 RCV000399388
NM_001035.3(RYR2):c.837G>A (p.Thr279=)	SNV Germline	Chr1:237417112	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia not specified	Criteria Provided Conflicting Classifications	CA087614	rs_769682840	5 SubmittersRCV000326370 RCV000383327 RCV001178101 RCV003995806 RCV005404483
NM_001035.3(RYR2):c.1006-12C>T	SNV Germline	Chr1:237441307	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Condition: not provided not specified Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA084121	rs_367998175	9 SubmittersRCV000280870 RCV000338236 RCV000777686 RCV001651346 RCV001699344 RCV003995807
NM_001035.3(RYR2):c.1444C>T (p.Leu482=)	SNV Germline	Chr1:237454542	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2	Criteria Provided Conflicting Classifications	CA085665	rs_117903753	2 SubmittersRCV000274601 RCV000366756
NM_001035.3(RYR2):c.5763G>A (p.Arg1921=)	SNV Germline	Chr1:237617333	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10610719	rs_886046270	5 SubmittersRCV000281373 RCV001093771 RCV001711777 RCV005402902 RCV002356406
NM_001035.3(RYR2):c.7599T>C (p.Pro2533=)	SNV Germline	Chr1:237649963	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10610728	rs_886046274	5 SubmittersRCV000285379 RCV000342737 RCV001525493 RCV003995818 RCV002392828
NM_001035.3(RYR2):c.9435T>C (p.Ser3145=)	SNV Germline	Chr1:237702045	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 not specified Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA087892	rs_774657844	6 SubmittersRCV000307391 RCV000424468 RCV001093727 RCV001180601 RCV002446542 RCV003995820
NM_001035.3(RYR2):c.10517G>A (p.Arg3506Gln)	SNV Germline	Chr1:237718484	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Condition: not provided Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA084368	rs_748805290	9 SubmittersRCV000305852 RCV000391540 RCV001183237 RCV001256775 RCV002392829 RCV003995824
NM_001035.3(RYR2):c.11146-6G>A	SNV Germline	Chr1:237756282	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA10610736	rs_886046277	4 SubmittersRCV000272050 RCV000329474 RCV001178092 RCV003995827
NM_001035.3(RYR2):c.11557+14C>T	SNV Germline	Chr1:237770901	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided Arrhythmogenic right ventricular dysplasia 2 not specified	Criteria Provided Conflicting Classifications	CA065703	rs_374155447	5 SubmittersRCV000321372 RCV005230232 RCV000380613 RCV000419639
NM_001035.3(RYR2):c.11557+15G>A	SNV Germline	Chr1:237770902	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 not specified	Criteria Provided Conflicting Classifications	CA084994	rs_761490797	3 SubmittersRCV000286175 RCV000336517 RCV001255471
NM_001035.3(RYR2):c.12027C>T (p.Asn4009=)	SNV Germline	Chr1:237783739	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 not specified Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia RYR2-related disorder	Criteria Provided Conflicting Classifications	CA085112	rs_763374929	9 SubmittersRCV000264286 RCV000433519 RCV001093737 RCV000727442 RCV001178371 RCV002348035 RCV003995829 RCV004537660
NM_001035.3(RYR2):c.12315C>T (p.Leu4105=)	SNV Germline	Chr1:237784027	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia not specified	Criteria Provided Conflicting Classifications	CA066382	rs_184625125	6 SubmittersRCV000296211 RCV000398770 RCV001180285 RCV002365341 RCV003995830 RCV003330634
NM_001035.3(RYR2):c.*509A>G	SNV Germline	Chr1:237833156	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA10610761	rs_565288028	2 SubmittersRCV000289309 RCV000381395 RCV003417954
NM_001035.3(RYR2):c.10551C>A (p.Gly3517=)	SNV Germline	Chr1:237718518	Conflicting classifications of pathogenicity	not specified Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2	Criteria Provided Conflicting Classifications	CA084382	rs_768797598	3 SubmittersRCV000420297 RCV001101641 RCV001101642
NM_001035.3(RYR2):c.3729A>C (p.Thr1243=)	SNV Germline	Chr1:237589923	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Condition: not provided Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA086436	rs_536080941	7 SubmittersRCV000419994 RCV001178358 RCV001100936 RCV001100935 RCV004567904 RCV003995980 RCV002348152
NM_001035.3(RYR2):c.2808G>A (p.Ser936=)	SNV Germline	Chr1:237511777	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA16603638	rs_1057521205	6 SubmittersRCV000417432 RCV001098741 RCV001098740 RCV001187663 RCV004984872 RCV004000350
NM_001035.3(RYR2):c.7158C>T (p.Asn2386=)	SNV Germline	Chr1:237640939	Conflicting classifications of pathogenicity	not specified Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Cardiovascular phenotype Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA087311	rs_376057173	7 SubmittersRCV000428607 RCV001097471 RCV001097470 RCV002365524 RCV001183033 RCV004000429
NM_001035.3(RYR2):c.9318T>A (p.Ser3106=)	SNV Germline	Chr1:237700418	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Condition: not provided Catecholaminergic polymorphic ventricular tachycardia RYR2-related disorder	Criteria Provided Conflicting Classifications	CA087858	rs_2797436	10 SubmittersRCV000427003 RCV001101440 RCV002374639 RCV001101439 RCV001179773 RCV001712361 RCV003996011 RCV004530556
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys)	SNV Germline	Chr1:237614422	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic right ventricular dysplasia 2 Cardiovascular phenotype Cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 RYR2-related disorder not specified	Criteria Provided Conflicting Classifications	CA086866	rs_564806219	13 SubmittersRCV000756606 RCV001099048 RCV000620181 RCV000769785 RCV000852597 RCV001099049 RCV004539926 RCV005056009
NM_001035.3(RYR2):c.8416C>T (p.Arg2806Cys)	SNV Germline	Chr1:237660927	Conflicting classifications of pathogenicity	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	Criteria Provided Conflicting Classifications	CA16610006	rs_727504134	3 SubmittersRCV002411425 RCV002526384 RCV002480340
NM_001035.3(RYR2):c.9561G>C (p.Lys3187Asn)	SNV Germline	Chr1:237705324	Conflicting classifications of pathogenicity	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA16610010	rs_1060500168	5 SubmittersRCV002480341 RCV003532125 RCV004000630 RCV002379411 RCV002523282
NM_001035.3(RYR2):c.9963G>A (p.Pro3321=)	SNV Germline	Chr1:237708919	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Cardiomyopathy not specified Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA087988	rs_199730192	10 SubmittersRCV000589442 RCV001101534 RCV001101535 RCV002383853 RCV001178578 RCV001700119 RCV004002015
NM_001035.3(RYR2):c.12463T>A (p.Ser4155Thr)	SNV Germline	Chr1:237784175	Conflicting classifications of pathogenicity	not specified 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 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA16610026	rs_1060500135	4 SubmittersRCV002282148 RCV002488998 RCV003153575 RCV005480368
NM_001035.3(RYR2):c.5824T>C (p.Phe1942Leu)	SNV Germline	Chr1:237617394	Conflicting classifications of pathogenicity	Cardiomyopathy Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia Condition: not provided Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 not specified	Criteria Provided Conflicting Classifications	CA086981	rs_368669045	7 SubmittersRCV001185258 RCV002506090 RCV004000624 RCV004691233 RCV002356633 RCV003103770 RCV005239016
NM_001035.3(RYR2):c.4899T>C (p.Pro1633=)	SNV Germline	Chr1:237610977	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA16610071	rs_1060503853	5 SubmittersRCV001097294 RCV001188149 RCV001097295 RCV004002020 RCV002341060
NM_001035.3(RYR2):c.7354G>A (p.Val2452Met)	SNV Germline	Chr1:237648455	Conflicting classifications of pathogenicity	Cardiovascular phenotype Cardiomyopathy 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 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA087378	rs_377136047	5 SubmittersRCV000620494 RCV001184262 RCV002522785 RCV002488999 RCV004000622
NM_001035.3(RYR2):c.1392C>A (p.His464Gln)	SNV Germline	Chr1:237454490	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy Condition: not provided Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA085521	rs_749032742	9 SubmittersRCV000498149 RCV000522514 RCV000769774 RCV002526064 RCV004003435 RCV002489201 RCV004023275 RCV005404617
NM_001035.3(RYR2):c.950T>C (p.Met317Thr)	SNV Germline	Chr1:237423193	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype 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 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA087910	rs_367601258	8 SubmittersRCV000522925 RCV000620365 RCV001188885 RCV002525200 RCV002481717 RCV003993997
NM_001035.3(RYR2):c.1217C>T (p.Ser406Leu)	SNV Germline	Chr1:237445447	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA085140	rs_759830423	6 SubmittersRCV000521452 RCV001190504 RCV002481695 RCV002525113 RCV004984938 RCV004003599
NM_001035.3(RYR2):c.2910C>T (p.Tyr970=)	SNV Germline	Chr1:237548434	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Cardiovascular phenotype Condition: not provided Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA086238	rs_575899061	6 SubmittersRCV001098742 RCV001098743 RCV001182242 RCV002438350 RCV003419948 RCV003999104
NM_001035.3(RYR2):c.9129-7T>C	SNV Germline	Chr1:237700222	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA658656996	rs_1466669135	3 SubmittersRCV001101437 RCV001101438 RCV003999133
NM_001035.3(RYR2):c.12541G>A (p.Gly4181Arg)	SNV Germline	Chr1:237784253	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia not specified Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Arrhythmogenic right ventricular dysplasia 2	Criteria Provided Conflicting Classifications	CA085196	rs_775477470	9 SubmittersRCV000592307 RCV001189668 RCV002532446 RCV004002458 RCV005431790 RCV002420573 RCV002476301
NM_001035.3(RYR2):c.5614G>A (p.Asp1872Asn)	SNV Germline	Chr1:237614742	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 not specified Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA086920	rs_761770946	6 SubmittersRCV001101129 RCV000613748 RCV001101128 RCV001176522 RCV002275071 RCV002350472
NM_001035.3(RYR2):c.10200T>C (p.Ala3400=)	SNV Germline	Chr1:237709537	Conflicting classifications of pathogenicity	Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 not specified Catecholaminergic polymorphic ventricular tachycardia Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA084211	rs_779316628	7 SubmittersRCV000621241 RCV001096094 RCV001096095 RCV002282264 RCV004002637 RCV001180586 RCV001613406
NM_001035.3(RYR2):c.13220G>A (p.Ser4407Asn)	SNV Germline	Chr1:237784932	Conflicting classifications of pathogenicity	Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA085311	rs_755585430	5 SubmittersRCV000621019 RCV001101827 RCV001101828 RCV000772659 RCV004002654
NM_001035.3(RYR2):c.848+8G>C	SNV Germline	Chr1:237417131	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 not specified Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA087647	rs_373075790	3 SubmittersRCV001102205 RCV001823741 RCV001102206
NM_001035.3(RYR2):c.3660T>A (p.Asp1220Glu)	SNV Germline	Chr1:237589854	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Condition: not provided Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA39802038	rs_1019112544	6 SubmittersRCV000765088 RCV001766367 RCV002458037 RCV002529899 RCV003532214 RCV004003864
NM_001035.3(RYR2):c.2573C>T (p.Thr858Met)	SNV Germline	Chr1:237503465	Conflicting classifications of pathogenicity	Sudden death Hypertrophic cardiomyopathy Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA086075	rs_377068202	9 SubmittersRCV000678750 RCV000768528 RCV000773287 RCV002492993 RCV002458039 RCV002529925 RCV004691265 RCV004702230
NM_001035.3(RYR2):c.12091A>G (p.Thr4031Ala)	SNV Germline	Chr1:237783803	Conflicting classifications of pathogenicity	Cardiomyopathy Condition: not provided 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 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA085124	rs_755148895	6 SubmittersRCV000771485 RCV001509129 RCV002343257 RCV002507087 RCV002533221 RCV004003867
NM_001035.3(RYR2):c.3883A>G (p.Ser1295Gly)	SNV Germline	Chr1:237590715	Conflicting classifications of pathogenicity	Cardiomyopathy Condition: not provided 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 Catecholaminergic polymorphic ventricular tachycardia not specified	Criteria Provided Conflicting Classifications	CA072160	rs_200574919	11 SubmittersRCV000773286 RCV001090708 RCV002358805 RCV002499074 RCV002529892 RCV004003860 RCV004782484
NM_001035.3(RYR2):c.3371C>T (p.Pro1124Leu)	SNV Germline	Chr1:237566723	Conflicting classifications of pathogenicity	Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA086359	rs_779640835	5 SubmittersRCV001191182 RCV002483823 RCV002458038 RCV002529903 RCV004003865
NM_001035.3(RYR2):c.13410C>T (p.Tyr4470=)	SNV Germline	Chr1:237788069	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia not specified	Criteria Provided Conflicting Classifications	CA085368	rs_183933829	6 SubmittersRCV001096403 RCV001096404 RCV001175625 RCV002386041 RCV004003894 RCV005056362
NM_001035.3(RYR2):c.1423A>C (p.Lys475Gln)	SNV Germline	Chr1:237454521	Conflicting classifications of pathogenicity	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 Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA085612	rs_765389300	5 SubmittersRCV001187697 RCV002531479 RCV002477572 RCV003362898 RCV003999607
NM_001035.3(RYR2):c.3477C>T (p.Gly1159=)	SNV Germline	Chr1:237569198	Conflicting classifications of pathogenicity	Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 2 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA086393	rs_780861754	3 SubmittersRCV002334324 RCV002485693 RCV002534331
NM_001035.3(RYR2):c.13175A>G (p.Lys4392Arg)	SNV Germline	Chr1:237784887	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Cardiovascular phenotype not specified Catecholaminergic polymorphic ventricular tachycardia Condition: not provided	Criteria Provided Conflicting Classifications	CA085303	rs_753733164	7 SubmittersRCV001101825 RCV001101826 RCV001181816 RCV002386225 RCV003235360 RCV003999677 RCV004691284
NM_001035.3(RYR2):c.3877C>G (p.Gln1293Glu)	SNV Germline	Chr1:237590709	Conflicting classifications of pathogenicity	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 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 Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA39802811	rs_962100875	3 SubmittersRCV003227834 RCV002493209 RCV003525945
NM_001035.3(RYR2):c.1024G>A (p.Val342Met)	SNV Germline	Chr1:237441337	Conflicting classifications of pathogenicity	Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA077002	rs_371898166	4 SubmittersRCV002386171 RCV002477531 RCV002544768 RCV004004259
NM_001035.3(RYR2):c.4387C>T (p.Arg1463Cys)	SNV Germline	Chr1:237593587	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy 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 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA086601	rs_764144130	5 SubmittersRCV000768530 RCV001805820 RCV002533705 RCV002507234 RCV003999747
NM_001035.3(RYR2):c.10725+4A>T	SNV Germline	Chr1:237726312	Conflicting classifications of pathogenicity	Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Condition: not provided Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA084497	rs_116444428	7 SubmittersRCV000769801 RCV001101643 RCV001101644 RCV002260667 RCV002422653 RCV003999931
NM_001035.3(RYR2):c.5428G>C (p.Val1810Leu)	SNV Germline	Chr1:237614556	Conflicting classifications of pathogenicity	Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 not specified Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA086888	rs_754364233	6 SubmittersRCV000774172 RCV001100856 RCV001100857 RCV003317363 RCV004659197 RCV004001359
NM_001035.3(RYR2):c.9190G>A (p.Ala3064Thr)	SNV Germline	Chr1:237700290	Conflicting classifications of pathogenicity	Cardiomyopathy Arrhythmogenic right ventricular dysplasia 2 Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA087845	rs_375482798	7 SubmittersRCV000774129 RCV001332697 RCV002370037 RCV002507343 RCV002509530 RCV002536675
NM_001035.3(RYR2):c.5654G>C (p.Gly1885Ala)	SNV Germline	Chr1:237614782	Conflicting classifications of pathogenicity	Cardiomyopathy Cardiovascular phenotype 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 Catecholaminergic polymorphic ventricular tachycardia Condition: not provided	Criteria Provided Conflicting Classifications	CA086927	rs_41315858	6 SubmittersRCV001525050 RCV002345761 RCV002537034 RCV002507378 RCV004001606 RCV004721609
NM_001035.3(RYR2):c.6284T>C (p.Ile2095Thr)	SNV Germline	Chr1:237627924	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia Cardiomyopathy Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Criteria Provided Conflicting Classifications	CA087086	rs_142498105	5 SubmittersRCV002537392 RCV004001772 RCV001188546 RCV002363125 RCV002487791
NM_001035.3(RYR2):c.2223A>G (p.Val741=)	SNV Germline	Chr1:237500730	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Cardiovascular phenotype not specified Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA085996	rs_117242563	6 SubmittersRCV001100448 RCV001100449 RCV001189324 RCV002427103 RCV003317392 RCV004002928
NM_001035.3(RYR2):c.5454T>C (p.Phe1818=)	SNV Germline	Chr1:237614582	Conflicting classifications of pathogenicity	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Cardiovascular phenotype not specified Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA086890	rs_201218861	8 SubmittersRCV000876375 RCV001100858 RCV001100859 RCV001179314 RCV003307650 RCV001701338 RCV004003114
NM_001035.3(RYR2):c.11877G>A (p.Ser3959=)	SNV Germline	Chr1:237778767	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 not specified Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA085067	rs_754610647	6 SubmittersRCV001096313 RCV001585832 RCV001096314 RCV001190600 RCV004003067 RCV002336826
NM_001035.3(RYR2):c.8419A>G (p.Ile2807Val)	SNV Germline	Chr1:237660930	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 not specified	Criteria Provided Conflicting Classifications	CA345401986	rs_1394059438	7 SubmittersRCV000981786 RCV001185012 RCV002445137 RCV001097673 RCV001097674 RCV003317403
NM_001035.3(RYR2):c.8936G>A (p.Arg2979His)	SNV Germline	Chr1:237680496	Conflicting classifications of pathogenicity	Cardiomyopathy 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 Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA087789	rs_753179691	5 SubmittersRCV001189434 RCV002549863 RCV002481766 RCV004004427 RCV004986728
NM_001035.3(RYR2):c.1241G>A (p.Arg414His)	SNV Germline	Chr1:237445471	Conflicting classifications of pathogenicity	Cardiomyopathy Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 not specified Condition: not provided Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA39779763	rs_371121679	8 SubmittersRCV001176534 RCV001098557 RCV001098556 RCV001249002 RCV001700968 RCV005005000 RCV004004794
NM_001035.3(RYR2):c.4294A>C (p.Ile1432Leu)	SNV Germline	Chr1:237593494	Conflicting classifications of pathogenicity	Cardiomyopathy Cardiovascular phenotype 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 Catecholaminergic polymorphic ventricular tachycardia Condition: not provided	Criteria Provided Conflicting Classifications	CA086595	rs_769163639	6 SubmittersRCV001524517 RCV002327263 RCV002481872 RCV002553057 RCV004004726 RCV005004991
NM_001035.3(RYR2):c.1789A>G (p.Ile597Val)	SNV Germline	Chr1:237491886	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy	Criteria Provided Conflicting Classifications	CA085890	rs_770408945	3 SubmittersRCV001096890 RCV001096891 RCV005401732
NM_001035.3(RYR2):c.2175T>C (p.Tyr725=)	SNV Germline	Chr1:237496724	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA085964	rs_758813812	5 SubmittersRCV001100447 RCV001100446 RCV001182621 RCV003363108 RCV004000235
NM_001035.3(RYR2):c.3766C>A (p.Pro1256Thr)	SNV Germline	Chr1:237589960	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy	Criteria Provided Conflicting Classifications	CA086440	rs_769729405	3 SubmittersRCV001100938 RCV001100937 RCV001177232
NM_001035.3(RYR2):c.7035A>T (p.Ala2345=)	SNV Germline	Chr1:237639121	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA423819059	rs_1681182291	4 SubmittersRCV001101222 RCV001101223 RCV001176192 RCV004000237
NM_001035.3(RYR2):c.7233C>A (p.Ala2411=)	SNV Germline	Chr1:237643338	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA423819403	rs_367994477	4 SubmittersRCV001097474 RCV001097475 RCV001189684 RCV003293875
NM_001035.3(RYR2):c.9646G>A (p.Glu3216Lys)	SNV Germline	Chr1:237707014	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA087938	rs_760965671	1 SubmittersRCV001097764 RCV001097765
NM_001035.3(RYR2):c.10414C>T (p.Arg3472Trp)	SNV Germline	Chr1:237717288	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia Cardiomyopathy	Criteria Provided Conflicting Classifications	CA345414530	rs_1689344988	4 SubmittersRCV001097853 RCV001097854 RCV004000227 RCV005401733
NM_001035.3(RYR2):c.11427G>A (p.Glu3809=)	SNV Germline	Chr1:237760979	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA084958	rs_553350678	5 SubmittersRCV001099747 RCV001099748 RCV003160627 RCV001182052 RCV004000234
NM_001035.3(RYR2):c.14085A>C (p.Ser4695=)	SNV Germline	Chr1:237798165	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Cardiovascular phenotype Cardiomyopathy	Criteria Provided Conflicting Classifications	CA085556	rs_758566439	4 SubmittersRCV001096510 RCV001096509 RCV004659348 RCV005401731
NM_001035.3(RYR2):c.*399A>G	SNV Germline	Chr1:237833046	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2	Criteria Provided Conflicting Classifications	CA39835439	rs_184537159	1 SubmittersRCV001100127 RCV001100128
NM_001035.3(RYR2):c.463+14G>A	SNV Germline	Chr1:237374809	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA086659	rs_776302587	4 SubmittersRCV001096713 RCV001096714 RCV001692349 RCV004702638
NM_001035.3(RYR2):c.3067-14G>C	SNV Germline	Chr1:237550530	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia Cardiomyopathy	Criteria Provided Conflicting Classifications	CA086281	rs_757471501	4 SubmittersRCV001102505 RCV001097095 RCV004000224 RCV001180848
NM_001035.3(RYR2):c.3598+13T>C	SNV Germline	Chr1:237569332	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 not specified	Criteria Provided Conflicting Classifications	CA086411	rs_145104355	3 SubmittersRCV001100934 RCV001100669 RCV005056886
NM_001035.3(RYR2):c.6688+13C>A	SNV Germline	Chr1:237633723	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2	Criteria Provided Conflicting Classifications	CA733309631	rs_1262322008	2 SubmittersRCV001099219 RCV001099220
NM_001035.3(RYR2):c.5509G>A (p.Glu1837Lys)	SNV Germline	Chr1:237614637	Conflicting classifications of pathogenicity	Cardiomyopathy Cardiovascular phenotype 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 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA086896	rs_749184443	5 SubmittersRCV001187879 RCV002348630 RCV002484027 RCV002559996 RCV004008746
NM_001035.3(RYR2):c.12920G>A (p.Arg4307His)	SNV Germline	Chr1:237784632	Conflicting classifications of pathogenicity	Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA085257	rs_769146715	5 SubmittersRCV001191177 RCV002559186 RCV004803547 RCV002484047 RCV002379735
NM_001035.3(RYR2):c.14151C>T (p.Asn4717=)	SNV Germline	Chr1:237801916	Conflicting classifications of pathogenicity	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 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA424051584	rs_1479892874	4 SubmittersRCV001183300 RCV002491534 RCV002559832 RCV004008370
NM_001035.3(RYR2):c.5671G>A (p.Glu1891Lys)	SNV Germline	Chr1:237614799	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 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 Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA345405773	rs_1224597817	5 SubmittersRCV004010737 RCV002491688 RCV002562514 RCV005402993 RCV005480618
NM_001035.3(RYR2):c.2545G>A (p.Asp849Asn)	SNV Germline	Chr1:237503437	Conflicting classifications of pathogenicity	Condition: not provided Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Cardiomyopathy Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA086068	rs_372569289	8 SubmittersRCV001256776 RCV002484100 RCV002429871 RCV003532891 RCV004819240 RCV004010632 RCV002561131
NM_001035.3(RYR2):c.14161T>C (p.Tyr4721His)	SNV Germline	Chr1:237806146	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA345422601	rs_1660612706	3 SubmittersRCV001261974 RCV001245502 RCV005623088
NM_001035.3(RYR2):c.6202C>T (p.Arg2068Ter)	SNV Germline	Chr1:237627842	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA345410438	rs_1679845277	2 SubmittersRCV001263016 RCV004762039 RCV004720830
NM_001035.3(RYR2):c.12638A>G (p.Glu4213Gly)	SNV Germline	Chr1:237784350	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia Arrhythmogenic right ventricular dysplasia 2 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA345413806	rs_1178157004	4 SubmittersRCV002541904 RCV002447282 RCV004004991 RCV002493581
NM_001035.3(RYR2):c.12865A>G (p.Ser4289Gly)	SNV Germline	Chr1:237784577	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia Cardiomyopathy	Criteria Provided Conflicting Classifications	CA345414501	rs_1386632671	4 SubmittersRCV002476447 RCV003153986 RCV004005069 RCV003532941
NM_001035.3(RYR2):c.6811G>T (p.Gly2271Cys)	SNV Germline	Chr1:237638375	Conflicting classifications of pathogenicity	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 Catecholaminergic polymorphic ventricular tachycardia Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Criteria Provided Conflicting Classifications	CA087230	rs_375371340	5 SubmittersRCV002368152 RCV002499702 RCV002547513 RCV004005237 RCV005400760
NM_001035.3(RYR2):c.5311A>G (p.Ile1771Val)	SNV Germline	Chr1:237614439	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA345404748	rs_1678240011	3 SubmittersRCV002493885 RCV002350711 RCV002548634
NM_001035.3(RYR2):c.5662C>T (p.Arg1888Trp)	SNV Germline	Chr1:237614790	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 2 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA39828812	rs_1006109370	4 SubmittersRCV001755381 RCV002343837 RCV002489811 RCV003526106
NM_001035.3(RYR2):c.12664G>A (p.Glu4222Lys)	SNV Germline	Chr1:237784376	Conflicting classifications of pathogenicity	Cardiomyopathy 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 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA085213	rs_758453646	4 SubmittersRCV001805282 RCV002541424 RCV002482337 RCV004009117
NM_015978.3(TNNI3K):c.1538T>C (p.Leu513Pro)	SNV Unknown	Chr1:74369456	Likely pathogenic	Arrhythmogenic right ventricular dysplasia 2	Criteria Provided Single Submitter	CA340786188	rs_1294489336	1 SubmittersRCV001807868
NM_001035.3(RYR2):c.11623G>T (p.Val3875Leu)	SNV Germline	Chr1:237772077	Likely pathogenic	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Criteria Provided Multiple Submitters No Conflicts	CA345407225	rs_1060500137	2 SubmittersRCV003147725 RCV002579534 RCV003147726
NM_001035.3(RYR2):c.11805G>C (p.Leu3935Phe)	SNV Unknown	Chr1:237778695	Likely pathogenic	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Criteria Provided Single Submitter	CA345409132	rs_2527697526	1 SubmittersRCV003148098 RCV003148099 RCV003148100

NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn)

SNV
Germline

Chr1:237500774

Conflicting classifications of pathogenicity

not specified
Ventricular fibrillation, paroxysmal familial, type 1
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA008736

rs_193922623

12 SubmittersRCV000036714 RCV000157446 RCV000242970 RCV000287643 RCV001093912 RCV000786207 RCV001181067

NM_001035.3(RYR2):c.4069G>C (p.Asp1357His)

SNV
Germline

Chr1:237590901

Conflicting classifications of pathogenicity

Cardiomyopathy
not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA009446

rs_193922626

7 SubmittersRCV000030422 RCV000154818 RCV001097194 RCV001097193 RCV003996140 RCV004018690

NM_001035.3(RYR2):c.5586C>T (p.Asp1862=)

SNV
Germline

Chr1:237614714

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Cardiovascular phenotype
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiac arrhythmia
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA009888

rs_193922628

15 SubmittersRCV000036768 RCV000272540 RCV000252666 RCV000769786 RCV001093868 RCV001841543 RCV001530065 RCV003996141

NM_001035.3(RYR2):c.10324-4A>G

SNV
Germline

Chr1:237717194

Conflicting classifications of pathogenicity

not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Cardiomyopathy
Condition: not provided
Arrhythmogenic right ventricular dysplasia 2
RYR2-related disorder

Criteria Provided
Conflicting Classifications

CA006610

rs_72751287

20 SubmittersRCV000036649 RCV000202863 RCV000246904 RCV000768787 RCV001528231 RCV001097852 RCV004534774

NM_001035.3(RYR2):c.10641G>A (p.Thr3547=)

SNV
Germline

Chr1:237723214

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA006725

rs_144256966

11 SubmittersRCV000036652 RCV000723746 RCV000391538 RCV000769800 RCV001093894 RCV003996236

NM_001035.3(RYR2):c.11398T>A (p.Cys3800Ser)

SNV
Germline

Chr1:237759848

Conflicting classifications of pathogenicity

not specified
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
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA006987

rs_397516504

6 SubmittersRCV000036661 RCV001525529 RCV002496571 RCV003996240 RCV004566804 RCV002513397

NM_001035.3(RYR2):c.1163A>G (p.Gln388Arg)

SNV
Germline

Chr1:237441476

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA007114

rs_397516506

4 SubmittersRCV000036665 RCV002482979 RCV002513400 RCV003996243

NM_001035.3(RYR2):c.12047T>A (p.Phe4016Tyr)

SNV
Germline

Chr1:237783759

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome

Criteria Provided
Conflicting Classifications

CA007324

rs_375021201

8 SubmittersRCV000036670 RCV000378772 RCV001182008 RCV001093785 RCV000766732 RCV003996246 RCV004018804 RCV002482980

NM_001035.3(RYR2):c.12159G>A (p.Glu4053=)

SNV
Germline

Chr1:237783871

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 2
Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA007352

rs_41267517

17 SubmittersRCV000036671 RCV000247809 RCV000349414 RCV000724810 RCV000769809 RCV001093786 RCV003996247

NM_001035.3(RYR2):c.13137C>A (p.Ile4379=)

SNV
Germline

Chr1:237784849

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 2
Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA007810

rs_369917806

10 SubmittersRCV000036675 RCV000617184 RCV001101824 RCV001529567 RCV000777845 RCV001101823 RCV003996249

NM_001035.3(RYR2):c.1548T>C (p.Asp516=)

SNV
Germline

Chr1:237456671

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA008488

rs_146129084

13 SubmittersRCV000036706 RCV000618567 RCV001100322 RCV001100323 RCV000771845 RCV001528256 RCV003996261

NM_001035.3(RYR2):c.2760G>A (p.Glu920=)

SNV
Germline

Chr1:237511729

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA008950

rs_186181155

18 SubmittersRCV000036721 RCV000368575 RCV000618697 RCV000724532 RCV000769780 RCV001093756 RCV003996268

NM_001035.3(RYR2):c.3153C>T (p.Arg1051=)

SNV
Germline

Chr1:237550630

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA009112

rs_397516524

7 SubmittersRCV000036725 RCV000251649 RCV000769782 RCV001097096 RCV001097097

NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly)

SNV
Germline

Chr1:237566732

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Sudden cardiac death
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Sudden unexplained death
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA009209

rs_200525962

17 SubmittersRCV000036729 RCV000171762 RCV000157454 RCV001293091 RCV001098853 RCV001098854 RCV000769783 RCV001254751 RCV002453307

NM_001035.3(RYR2):c.4068C>T (p.Pro1356=)

SNV
Germline

Chr1:237590900

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia
RYR2-related disorder

Criteria Provided
Conflicting Classifications

CA009440

rs_199821105

9 SubmittersRCV000036739 RCV000405365 RCV001719733 RCV001189398 RCV001093761 RCV002321507 RCV003996279 RCV004739325

NM_001035.3(RYR2):c.4734C>T (p.Pro1578=)

SNV
Germline

Chr1:237610812

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Arrhythmogenic right ventricular dysplasia 2
Cardiovascular phenotype
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA009663

rs_201880756

9 SubmittersRCV000036755 RCV000589910 RCV000300038 RCV000620163 RCV000771249 RCV001093874 RCV003996285

NM_001035.3(RYR2):c.5619A>G (p.Ala1873=)

SNV
Germline

Chr1:237614747

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA009911

rs_373282364

15 SubmittersRCV000036769 RCV000245051 RCV000309384 RCV001093879 RCV000777598 RCV001528654 RCV003996292

NM_001035.3(RYR2):c.6337G>A (p.Val2113Met)

SNV
Germline

Chr1:237627977

Conflicting classifications of pathogenicity

not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA010110

rs_186906598

11 SubmittersRCV000036777 RCV000171764 RCV000620555 RCV000766718 RCV000769789 RCV001099125 RCV004803128

NM_001035.3(RYR2):c.684C>T (p.Leu228=)

SNV
Germline

Chr1:237388094

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA010348

rs_72549417

11 SubmittersRCV000036782 RCV000265346 RCV000589666 RCV000768754 RCV001093846 RCV003996296 RCV002362626

NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr)

SNV
Germline

Chr1:237657976

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Wolff-Parkinson-White pattern
Arrhythmogenic right ventricular cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
RYR2-related disorder

Criteria Provided
Conflicting Classifications

CA010859

rs_201500134

19 SubmittersRCV000036794 RCV000227013 RCV000656198 RCV000590879 RCV000621651 RCV000771869 RCV001095884 RCV001095885 RCV004803129 RCV004541108

NM_001035.3(RYR2):c.8309T>C (p.Ile2770Thr)

SNV
Germline

Chr1:237660820

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA010940

rs_397516550

7 SubmittersRCV000036796 RCV001095886 RCV001095887 RCV001175860 RCV002496576 RCV003996303 RCV004017312

NM_001035.3(RYR2):c.9067+12C>T

SNV
Germline

Chr1:237687516

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA011108

rs_112365440

11 SubmittersRCV000036802 RCV001101435 RCV001101436 RCV001529841

NM_001035.3(RYR2):c.982G>A (p.Ala328Thr)

SNV
Germline

Chr1:237423225

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic right ventricular dysplasia 2
Wolff-Parkinson-White pattern
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA011326

rs_201669522

9 SubmittersRCV000079381 RCV000391386 RCV000656194 RCV001093747 RCV001189215 RCV002498396 RCV003380409 RCV003997206

NM_001035.3(RYR2):c.5571G>A (p.Pro1857=)

SNV
Germline

Chr1:237614699

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA009882

rs_371934582

9 SubmittersRCV000151763 RCV000621601 RCV000402454 RCV001093867 RCV001190173 RCV003221817 RCV003997458

NM_001035.3(RYR2):c.10017C>T (p.His3339=)

SNV
Germline

Chr1:237708973

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Cardiovascular phenotype
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
RYR2-related disorder

Criteria Provided
Conflicting Classifications

CA006488

rs_376439588

13 SubmittersRCV000127846 RCV000263240 RCV000619991 RCV000858422 RCV001093729 RCV001186657 RCV003997463 RCV004544284

NM_001035.3(RYR2):c.10231-5C>T

SNV
Germline

Chr1:237711740

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA006571

rs_186326951

12 SubmittersRCV000127848 RCV000373146 RCV000777784 RCV001093730 RCV001705921 RCV002371972

NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln)

SNV
Germline

Chr1:237548562

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 2

Criteria Provided
Conflicting Classifications

CA009033

rs_149514924

15 SubmittersRCV000148833 RCV000182707 RCV000589142 RCV000619628 RCV000771801 RCV001102502

NM_001035.3(RYR2):c.649A>G (p.Ile217Val)

SNV
Germline

Chr1:237387353

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA010179

rs_200642525

13 SubmittersRCV000151754 RCV000171760 RCV000619874 RCV000415633 RCV001171188 RCV001098450

NM_001035.3(RYR2):c.1612+13A>G

SNV
Germline

Chr1:237456748

Conflicting classifications of pathogenicity

not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA008512

rs_368200572

5 SubmittersRCV000156613 RCV000339701 RCV000393529 RCV001701536

NM_001035.3(RYR2):c.1939C>T (p.Arg647Cys)

SNV
Germline

Chr1:237493065

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
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
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Arrhythmogenic right ventricular dysplasia 2

Criteria Provided
Conflicting Classifications

CA008643

rs_202040519

9 SubmittersRCV000154813 RCV000656970 RCV000771900 RCV000619369 RCV002470780 RCV002478454 RCV003147363 RCV003147362

NM_001035.3(RYR2):c.2755G>A (p.Val919Met)

SNV
Germline

Chr1:237511724

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA008944

rs_201079716

9 SubmittersRCV000154815 RCV000515405 RCV001186656 RCV002514976 RCV002433679 RCV001256781

NM_001035.3(RYR2):c.2935G>T (p.Ala979Ser)

SNV
Germline

Chr1:237548459

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA008979

rs_202015519

7 SubmittersRCV000154816 RCV000246594 RCV000766712 RCV001100557 RCV001100558 RCV001178122

NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg)

SNV
Germline

Chr1:237595526

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Long QT syndrome
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA009541

rs_200450676

12 SubmittersRCV000154819 RCV000515200 RCV000678836 RCV000725016 RCV000768765 RCV002326882 RCV002514978

NM_001035.3(RYR2):c.6689-12T>C

SNV
Germline

Chr1:237634877

Conflicting classifications of pathogenicity

not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA010256

rs_370972311

7 SubmittersRCV000151764 RCV000306276 RCV000405632 RCV000771789 RCV003221825

NM_001035.3(RYR2):c.9619A>G (p.Asn3207Asp)

SNV
Germline

Chr1:237706987

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA011262

rs_372601642

8 SubmittersRCV000154822 RCV000266128 RCV000777709 RCV000618927 RCV001093778 RCV003998277

NM_001035.3(RYR2):c.10495-14A>G

SNV
Germline

Chr1:237718448

Conflicting classifications of pathogenicity

not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA006644

rs_727505057

4 SubmittersRCV000156487 RCV000346271 RCV000384549 RCV001185015

NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys)

SNV
Germline

Chr1:237785999

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Left ventricular noncompaction
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Condition: not provided
Hypertrophic cardiomyopathy
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA007871

rs_571985775

15 SubmittersRCV000151775 RCV000577997 RCV000577938 RCV000578054 RCV000620731 RCV000766733 RCV000852418 RCV000777878 RCV003998229

NM_001035.3(RYR2):c.1822C>T (p.His608Tyr)

SNV
Germline

Chr1:237491919

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA008596

rs_727504718

9 SubmittersRCV000156007 RCV000477834 RCV000766708 RCV001177069 RCV002515008 RCV002408693

NM_001035.3(RYR2):c.3054T>C (p.Tyr1018=)

SNV
Germline

Chr1:237548578

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA009048

rs_113422365

9 SubmittersRCV000154814 RCV000252643 RCV000777999 RCV001102503 RCV001102504 RCV003998274

NM_001035.3(RYR2):c.10231-4T>C

SNV
Germline

Chr1:237711741

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 2
Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA006564

rs_117180147

16 SubmittersRCV000154633 RCV000253861 RCV000333639 RCV000587853 RCV000768786 RCV001093782

NM_001035.3(RYR2):c.10941T>G (p.Pro3647=)

SNV
Germline

Chr1:237732051

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
RYR2-related disorder
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA006813

rs_370332882

17 SubmittersRCV000151772 RCV000229147 RCV000621644 RCV000769804 RCV001096209 RCV001096208 RCV004544362 RCV003998227

NM_001035.3(RYR2):c.1318G>A (p.Ala440Thr)

SNV
Germline

Chr1:237454416

Conflicting classifications of pathogenicity

Long QT syndrome
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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA007818

rs_371878264

5 SubmittersRCV000157443 RCV002381509 RCV002516363 RCV002478470 RCV005051754

NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp)

SNV
Germline

Chr1:237657959

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA010841

rs_200420897

15 SubmittersRCV000157460 RCV000212982 RCV000171765 RCV000618062 RCV000769797 RCV001095882 RCV001095883 RCV003998341

NM_001035.3(RYR2):c.4445G>A (p.Arg1482His)

SNV
Germline

Chr1:237595506

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA009533

rs_373024059

9 SubmittersRCV000171763 RCV000212979 RCV000773225 RCV001098955 RCV001100766 RCV002326941

NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys)

SNV
Germline

Chr1:237784631

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
RYR2-related disorder

Criteria Provided
Conflicting Classifications

CA007750

rs_200092869

11 SubmittersRCV000171768 RCV000212983 RCV000618657 RCV000776390 RCV001101822 RCV001101821 RCV004539578

NM_001035.3(RYR2):c.13712C>T (p.Thr4571Met)

SNV
Germline

Chr1:237792253

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA008025

rs_200803276

8 SubmittersRCV000171689 RCV001179791 RCV002381553 RCV002478547 RCV002515251 RCV003995653

NM_001035.3(RYR2):c.3356G>A (p.Arg1119His)

SNV
Germline

Chr1:237566708

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
not specified

Criteria Provided
Conflicting Classifications

CA009195

rs_201312753

9 SubmittersRCV000724470 RCV000771974 RCV002321702 RCV002298503 RCV002517704 RCV003993857

NM_001035.3(RYR2):c.239A>G (p.Glu80Gly)

SNV
Germline

Chr1:237330948

Pathogenic

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA008831

rs_794728706

2 SubmittersRCV000477870 RCV002516866

NM_001035.3(RYR2):c.527G>A (p.Arg176Gln)

SNV
Germline

Chr1:237377386

Pathogenic

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiovascular phenotype
RYR2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA009819

rs_794728708

8 SubmittersRCV000182659 RCV000208033 RCV001332696 RCV002345634 RCV005222807

NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp)

SNV
Germline

Chr1:237445488

Pathogenic

Condition: not provided
Ventricular fibrillation
Catecholaminergic polymorphic ventricular tachycardia
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA007622

rs_190140598

12 SubmittersRCV000182680 RCV000202619 RCV000219729 RCV000515377 RCV001194068 RCV002426877 RCV002470799

NM_001035.3(RYR2):c.1646C>T (p.Ala549Val)

SNV
Germline

Chr1:237469125

Likely pathogenic

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA008543

rs_794728817

1 SubmittersRCV001801232

NM_001035.3(RYR2):c.2253T>G (p.Thr751=)

SNV
Germline

Chr1:237500760

Conflicting classifications of pathogenicity

not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA008732

rs_762905211

7 SubmittersRCV000182621 RCV001100450 RCV001102404 RCV001184503 RCV002444732 RCV003996726

NM_001035.3(RYR2):c.2574G>A (p.Thr858=)

SNV
Germline

Chr1:237503466

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Cardiovascular phenotype
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA008888

rs_367992907

13 SubmittersRCV000182624 RCV000404420 RCV000619882 RCV000769778 RCV001093754 RCV001172025 RCV003996727

NM_001035.3(RYR2):c.3151C>T (p.Arg1051Cys)

SNV
Germline

Chr1:237550628

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA009097

rs_533330664

11 SubmittersRCV000182708 RCV000456036 RCV001191860 RCV002254283 RCV002321722 RCV002516878 RCV003996752

NM_001035.3(RYR2):c.3517A>G (p.Met1173Val)

SNV
Germline

Chr1:237569238

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA009247

rs_762372863

6 SubmittersRCV000182625 RCV001100668 RCV001100667 RCV001189913 RCV003996728 RCV005404352

NM_001035.3(RYR2):c.3950C>T (p.Thr1317Met)

SNV
Germline

Chr1:237590782

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
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

Criteria Provided
Conflicting Classifications

CA009414

rs_752107643

4 SubmittersRCV000182717 RCV002354480 RCV002500539 RCV002515324

NM_001035.3(RYR2):c.4094C>T (p.Ala1365Val)

SNV
Germline

Chr1:237590926

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome

Criteria Provided
Conflicting Classifications

CA009452

rs_373261115

8 SubmittersRCV000182870 RCV000415707 RCV000777782 RCV001093762 RCV002321724 RCV003227703

NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser)

SNV
Germline

Chr1:237602080

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA009626

rs_185237690

10 SubmittersRCV000490424 RCV000619293 RCV000776180 RCV001100767 RCV001704872 RCV003235105

NM_001035.3(RYR2):c.5373C>A (p.Thr1791=)

SNV
Germline

Chr1:237614501

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA009837

rs_765283048

6 SubmittersRCV000182632 RCV000406951 RCV000777693 RCV001093820 RCV002345633 RCV003996731

NM_001035.3(RYR2):c.6532G>A (p.Val2178Ile)

SNV
Germline

Chr1:237631518

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA010204

rs_794728821

3 SubmittersRCV000182874 RCV001253231 RCV005089919

NM_001035.3(RYR2):c.7160C>T (p.Ala2387Val)

SNV
Germline

Chr1:237640941

Pathogenic/Likely pathogenic

Condition: not provided
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA010582

rs_794728754

5 SubmittersRCV000182758 RCV001535748 RCV002272163 RCV002372117

NM_001035.3(RYR2):c.7542G>A (p.Leu2514=)

SNV
Germline

Chr1:237649906

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia
RYR2-related disorder

Criteria Provided
Conflicting Classifications

CA010733

rs_371088367

8 SubmittersRCV000182635 RCV000252731 RCV000343987 RCV000777732 RCV001093830 RCV003884379 RCV003996733 RCV004537529

NM_001035.3(RYR2):c.8262G>C (p.Gln2754His)

SNV
Germline

Chr1:237660038

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 2
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA010917

rs_773748242

6 SubmittersRCV000182880 RCV001175683 RCV001337100 RCV002426879 RCV002515342 RCV003996798

NM_001035.3(RYR2):c.9655G>A (p.Val3219Met)

SNV
Germline

Chr1:237707023

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA011287

rs_371147744

11 SubmittersRCV000216905 RCV000590419 RCV000768781 RCV001099559 RCV001099558 RCV002372115 RCV003996735

NM_001035.3(RYR2):c.12492G>A (p.Gln4164=)

SNV
Germline

Chr1:237784204

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA007543

rs_377293019

7 SubmittersRCV000182645 RCV000620224 RCV000771837 RCV001099829 RCV001099830 RCV003996736

NM_001035.3(RYR2):c.12858C>T (p.Ser4286=)

SNV
Germline

Chr1:237784570

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA007721

rs_185482345

7 SubmittersRCV000182647 RCV000589602 RCV000778051 RCV001099836 RCV001099835 RCV004658979 RCV003996737

NM_001035.3(RYR2):c.13528G>T (p.Ala4510Ser)

SNV
Germline

Chr1:237791480

Likely pathogenic

Condition: not provided
Arrhythmogenic right ventricular dysplasia 2

Criteria Provided
Multiple Submitters
No Conflicts

CA007958

rs_397516510

2 SubmittersRCV000182838 RCV001254617

NM_001035.3(RYR2):c.5663G>A (p.Arg1888Gln)

SNV
Germline

Chr1:237614791

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Primary familial hypertrophic cardiomyopathy
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA351717

rs_869025511

5 SubmittersRCV000375573 RCV000208027 RCV002298528 RCV000320906 RCV002347815

NM_001035.3(RYR2):c.12837G>A (p.Met4279Ile)

SNV
Germline

Chr1:237784549

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
not specified
Cardiovascular phenotype
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

Criteria Provided
Conflicting Classifications

CA085245

rs_750117613

5 SubmittersRCV000208489 RCV001194102 RCV002381717 RCV002515553 RCV002494544

NM_001035.3(RYR2):c.8913T>C (p.Ile2971=)

SNV
Germline

Chr1:237680473

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia
RYR2-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA087786

rs_755520825

10 SubmittersRCV000219778 RCV000393090 RCV000777731 RCV001093833 RCV000845308 RCV003997723 RCV004530315 RCV002372220

NM_001035.3(RYR2):c.9442G>A (p.Val3148Met)

SNV
Germline

Chr1:237702052

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
RYR2-related disorder

Criteria Provided
Conflicting Classifications

CA10576409

rs_876657994

9 SubmittersRCV000223326 RCV000771970 RCV003997755 RCV001249323 RCV001762465 RCV002444864 RCV002485398 RCV004739606

NM_001035.3(RYR2):c.11040-3C>T

SNV
Germline

Chr1:237733702

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA10576411

rs_876657984

5 SubmittersRCV000222809 RCV001097952 RCV001097953 RCV001182284 RCV003997747

NM_001035.3(RYR2):c.13593G>A (p.Lys4531=)

SNV
Germline

Chr1:237792134

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA10576413

rs_548313130

9 SubmittersRCV000221328 RCV000263558 RCV001170491 RCV001706238 RCV002381735 RCV001093790 RCV003997716

NM_001035.3(RYR2):c.10035G>A (p.Arg3345=)

SNV
Germline

Chr1:237708991

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
not specified
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
RYR2-related disorder
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA084095

rs_754976419

8 SubmittersRCV000253028 RCV001096093 RCV000427858 RCV001096092 RCV001179774 RCV004542953 RCV003995719

NM_001035.3(RYR2):c.14220C>T (p.Ala4740=)

SNV
Germline

Chr1:237806205

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA085611

rs_368971586

6 SubmittersRCV000253045 RCV001096511 RCV001096512 RCV001525672 RCV001705400 RCV003995733

NM_001035.3(RYR2):c.12627G>A (p.Ser4209=)

SNV
Germline

Chr1:237784339

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA085204

rs_3753631

5 SubmittersRCV000247128 RCV001182015 RCV001099831 RCV001099832 RCV003999002

NM_001035.3(RYR2):c.13665C>T (p.Ile4555=)

SNV
Germline

Chr1:237792206

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA085430

rs_375213838

7 SubmittersRCV000372481 RCV000388524 RCV001093792 RCV001181804 RCV003995768 RCV002379122

NM_001035.3(RYR2):c.1404G>A (p.Glu468=)

SNV
Germline

Chr1:237454502

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA085551

rs_768538183

5 SubmittersRCV000328522 RCV001093800 RCV001188880 RCV003995808 RCV005480351

NM_001035.3(RYR2):c.1612+10A>G

SNV
Germline

Chr1:237456745

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2

Criteria Provided
Conflicting Classifications

CA10609549

rs_886046262

2 SubmittersRCV000282403 RCV000374594

NM_001035.3(RYR2):c.3105C>T (p.Tyr1035=)

SNV
Germline

Chr1:237550582

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA086309

rs_747358776

4 SubmittersRCV000266767 RCV000321920 RCV002321973 RCV003995812

NM_001035.3(RYR2):c.4044G>A (p.Lys1348=)

SNV
Germline

Chr1:237590876

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Cardiovascular phenotype
Cardiomyopathy
not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia
RYR2-related disorder

Criteria Provided
Conflicting Classifications

CA086525

rs_755391572

9 SubmittersRCV000308159 RCV000617753 RCV000777776 RCV000605932 RCV001093870 RCV001532584 RCV003995814 RCV004739669

NM_001035.3(RYR2):c.8493T>C (p.Val2831=)

SNV
Germline

Chr1:237666568

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA087653

rs_755660659

6 SubmittersRCV000276193 RCV000333568 RCV001179330 RCV001431862 RCV002446541 RCV005418064

NM_001035.3(RYR2):c.8515-7A>G

SNV
Germline

Chr1:237667876

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
not specified

Criteria Provided
Conflicting Classifications

CA087670

rs_766622060

5 SubmittersRCV000327567 RCV000384491 RCV001187867 RCV003995819 RCV003330632

NM_001035.3(RYR2):c.9755A>G (p.His3252Arg)

SNV
Germline

Chr1:237707123

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA087952

rs_760379293

7 SubmittersRCV000336208 RCV000388355 RCV001178094 RCV003995821 RCV003362750 RCV003226918 RCV005407032

NM_001035.3(RYR2):c.9927A>G (p.Lys3309=)

SNV
Germline

Chr1:237708883

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
not specified
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA087982

rs_184937795

6 SubmittersRCV000347849 RCV000404124 RCV001180286 RCV003330633 RCV004804984 RCV002379162

NM_001035.3(RYR2):c.10008G>A (p.Glu3336=)

SNV
Germline

Chr1:237708964

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA084084

rs_753175584

5 SubmittersRCV000264362 RCV001093890 RCV001805006 RCV003995823 RCV005268587

NM_001035.3(RYR2):c.10962A>C (p.Glu3654Asp)

SNV
Germline

Chr1:237732072

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
not specified
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA084638

rs_547005691

7 SubmittersRCV000298794 RCV001093733 RCV001582919 RCV001188871 RCV001764262 RCV002450844 RCV003995825

NM_001035.3(RYR2):c.-63G>T

SNV
Germline

Chr1:237042459

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Arrhythmogenic right ventricular dysplasia 2

Criteria Provided
Conflicting Classifications

CA10609770

rs_578020342

2 SubmittersRCV000264698 RCV001668650 RCV000375824

NM_001035.3(RYR2):c.849-10T>C

SNV
Germline

Chr1:237423082

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA087648

rs_771173251

3 SubmittersRCV000291767 RCV001093908 RCV001525478

NM_001035.3(RYR2):c.3400G>T (p.Ala1134Ser)

SNV
Germline

Chr1:237566752

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA10609773

rs_886046265

6 SubmittersRCV000336721 RCV000372653 RCV001178100 RCV002450843 RCV002504044 RCV004804983

NM_001035.3(RYR2):c.9067+10C>T

SNV
Germline

Chr1:237687514

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
not specified
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA087820

rs_372631657

8 SubmittersRCV000282361 RCV000335017 RCV001528938 RCV001175583 RCV001798778

NM_001035.3(RYR2):c.11766G>A (p.Glu3922=)

SNV
Germline

Chr1:237773639

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Cardiovascular phenotype
not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA085044

rs_774625105

10 SubmittersRCV000337602 RCV000621893 RCV001000975 RCV001093897 RCV001179551 RCV001553008 RCV003995828

NM_001035.3(RYR2):c.14808+12A>C

SNV
Germline

Chr1:237831577

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2

Criteria Provided
Conflicting Classifications

CA10609817

rs_886046281

2 SubmittersRCV000280510 RCV000349479

NM_001035.3(RYR2):c.577-14G>A

SNV
Germline

Chr1:237387267

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
not specified
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA086965

rs_148019277

7 SubmittersRCV000312964 RCV000351465 RCV000439987 RCV001178366 RCV003995803 RCV001699290

NM_001035.3(RYR2):c.828A>G (p.Arg276=)

SNV
Germline

Chr1:237417103

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
not specified
Cardiovascular phenotype
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia
RYR2-related disorder

Criteria Provided
Conflicting Classifications

CA087597

rs_180711819

9 SubmittersRCV000361184 RCV000432303 RCV000621348 RCV000768757 RCV001093847 RCV001718598 RCV003995805 RCV004543169

NM_001035.3(RYR2):c.2772G>A (p.Leu924=)

SNV
Germline

Chr1:237511741

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Cardiovascular phenotype
not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
RYR2-related disorder
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA086195

rs_780664060

11 SubmittersRCV000310234 RCV000617646 RCV000418654 RCV001093810 RCV001191830 RCV004739668 RCV001723881 RCV003995811

NM_001035.3(RYR2):c.5220T>G (p.Pro1740=)

SNV
Germline

Chr1:237614348

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2

Criteria Provided
Conflicting Classifications

CA10610619

rs_886046269

2 SubmittersRCV000282078 RCV000376490

NM_001035.3(RYR2):c.9601G>A (p.Val3201Met)

SNV
Germline

Chr1:237706969

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA087934

rs_762549821

6 SubmittersRCV000324884 RCV000377072 RCV001192119 RCV001195553 RCV002379161

NM_001035.3(RYR2):c.9995C>T (p.Thr3332Met)

SNV
Germline

Chr1:237708951

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA087992

rs_774437805

5 SubmittersRCV000361343 RCV001093889 RCV001187921 RCV002379163 RCV003995822

NM_001035.3(RYR2):c.13482T>C (p.Tyr4494=)

SNV
Germline

Chr1:237791434

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA10610628

rs_886046279

3 SubmittersRCV000298647 RCV002379164 RCV000353478

NM_001035.3(RYR2):c.13718G>A (p.Arg4573His)

SNV
Germline

Chr1:237792259

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Condition: not provided
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA085440

rs_371157286

8 SubmittersRCV000344574 RCV001093841 RCV001177067 RCV001590913 RCV002502178 RCV002379165 RCV003995832

NM_001035.3(RYR2):c.*711C>G

SNV
Germline

Chr1:237833358

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10610667

rs_544493822

2 SubmittersRCV000284444 RCV000376366 RCV002510838

NM_001035.3(RYR2):c.*1108A>G

SNV
Germline

Chr1:237833755

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA10610682

rs_540171235

1 SubmittersRCV000345410 RCV000399388

NM_001035.3(RYR2):c.837G>A (p.Thr279=)

SNV
Germline

Chr1:237417112

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
not specified

Criteria Provided
Conflicting Classifications

CA087614

rs_769682840

5 SubmittersRCV000326370 RCV000383327 RCV001178101 RCV003995806 RCV005404483

NM_001035.3(RYR2):c.1006-12C>T

SNV
Germline

Chr1:237441307

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Condition: not provided
not specified
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA084121

rs_367998175

9 SubmittersRCV000280870 RCV000338236 RCV000777686 RCV001651346 RCV001699344 RCV003995807

NM_001035.3(RYR2):c.1444C>T (p.Leu482=)

SNV
Germline

Chr1:237454542

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2

Criteria Provided
Conflicting Classifications

CA085665

rs_117903753

2 SubmittersRCV000274601 RCV000366756

NM_001035.3(RYR2):c.5763G>A (p.Arg1921=)

SNV
Germline

Chr1:237617333

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10610719

rs_886046270

5 SubmittersRCV000281373 RCV001093771 RCV001711777 RCV005402902 RCV002356406

NM_001035.3(RYR2):c.7599T>C (p.Pro2533=)

SNV
Germline

Chr1:237649963

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10610728

rs_886046274

5 SubmittersRCV000285379 RCV000342737 RCV001525493 RCV003995818 RCV002392828

NM_001035.3(RYR2):c.9435T>C (p.Ser3145=)

SNV
Germline

Chr1:237702045

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA087892

rs_774657844

6 SubmittersRCV000307391 RCV000424468 RCV001093727 RCV001180601 RCV002446542 RCV003995820

NM_001035.3(RYR2):c.10517G>A (p.Arg3506Gln)

SNV
Germline

Chr1:237718484

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA084368

rs_748805290

9 SubmittersRCV000305852 RCV000391540 RCV001183237 RCV001256775 RCV002392829 RCV003995824

NM_001035.3(RYR2):c.11146-6G>A

SNV
Germline

Chr1:237756282

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA10610736

rs_886046277

4 SubmittersRCV000272050 RCV000329474 RCV001178092 RCV003995827

NM_001035.3(RYR2):c.11557+14C>T

SNV
Germline

Chr1:237770901

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Arrhythmogenic right ventricular dysplasia 2
not specified

Criteria Provided
Conflicting Classifications

CA065703

rs_374155447

5 SubmittersRCV000321372 RCV005230232 RCV000380613 RCV000419639

NM_001035.3(RYR2):c.11557+15G>A

SNV
Germline

Chr1:237770902

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
not specified

Criteria Provided
Conflicting Classifications

CA084994

rs_761490797

3 SubmittersRCV000286175 RCV000336517 RCV001255471

NM_001035.3(RYR2):c.12027C>T (p.Asn4009=)

SNV
Germline

Chr1:237783739

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia
RYR2-related disorder

Criteria Provided
Conflicting Classifications

CA085112

rs_763374929

9 SubmittersRCV000264286 RCV000433519 RCV001093737 RCV000727442 RCV001178371 RCV002348035 RCV003995829 RCV004537660

NM_001035.3(RYR2):c.12315C>T (p.Leu4105=)

SNV
Germline

Chr1:237784027

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia
not specified

Criteria Provided
Conflicting Classifications

CA066382

rs_184625125

6 SubmittersRCV000296211 RCV000398770 RCV001180285 RCV002365341 RCV003995830 RCV003330634

NM_001035.3(RYR2):c.*509A>G

SNV
Germline

Chr1:237833156

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10610761

rs_565288028

2 SubmittersRCV000289309 RCV000381395 RCV003417954

NM_001035.3(RYR2):c.10551C>A (p.Gly3517=)

SNV
Germline

Chr1:237718518

Conflicting classifications of pathogenicity

not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2

Criteria Provided
Conflicting Classifications

CA084382

rs_768797598

3 SubmittersRCV000420297 RCV001101641 RCV001101642

NM_001035.3(RYR2):c.3729A>C (p.Thr1243=)

SNV
Germline

Chr1:237589923

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA086436

rs_536080941

7 SubmittersRCV000419994 RCV001178358 RCV001100936 RCV001100935 RCV004567904 RCV003995980 RCV002348152

NM_001035.3(RYR2):c.2808G>A (p.Ser936=)

SNV
Germline

Chr1:237511777

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA16603638

rs_1057521205

6 SubmittersRCV000417432 RCV001098741 RCV001098740 RCV001187663 RCV004984872 RCV004000350

NM_001035.3(RYR2):c.7158C>T (p.Asn2386=)

SNV
Germline

Chr1:237640939

Conflicting classifications of pathogenicity

not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiovascular phenotype
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA087311

rs_376057173

7 SubmittersRCV000428607 RCV001097471 RCV001097470 RCV002365524 RCV001183033 RCV004000429

NM_001035.3(RYR2):c.9318T>A (p.Ser3106=)

SNV
Germline

Chr1:237700418

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia
RYR2-related disorder

Criteria Provided
Conflicting Classifications

CA087858

rs_2797436

10 SubmittersRCV000427003 RCV001101440 RCV002374639 RCV001101439 RCV001179773 RCV001712361 RCV003996011 RCV004530556

NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys)

SNV
Germline

Chr1:237614422

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic right ventricular dysplasia 2
Cardiovascular phenotype
Cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
RYR2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA086866

rs_564806219

13 SubmittersRCV000756606 RCV001099048 RCV000620181 RCV000769785 RCV000852597 RCV001099049 RCV004539926 RCV005056009

NM_001035.3(RYR2):c.8416C>T (p.Arg2806Cys)

SNV
Germline

Chr1:237660927

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16610006

rs_727504134

3 SubmittersRCV002411425 RCV002526384 RCV002480340

NM_001035.3(RYR2):c.9561G>C (p.Lys3187Asn)

SNV
Germline

Chr1:237705324

Conflicting classifications of pathogenicity

Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA16610010

rs_1060500168

5 SubmittersRCV002480341 RCV003532125 RCV004000630 RCV002379411 RCV002523282

NM_001035.3(RYR2):c.9963G>A (p.Pro3321=)

SNV
Germline

Chr1:237708919

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Cardiomyopathy
not specified
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA087988

rs_199730192

10 SubmittersRCV000589442 RCV001101534 RCV001101535 RCV002383853 RCV001178578 RCV001700119 RCV004002015

NM_001035.3(RYR2):c.12463T>A (p.Ser4155Thr)

SNV
Germline

Chr1:237784175

Conflicting classifications of pathogenicity

not specified
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
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16610026

rs_1060500135

4 SubmittersRCV002282148 RCV002488998 RCV003153575 RCV005480368

NM_001035.3(RYR2):c.5824T>C (p.Phe1942Leu)

SNV
Germline

Chr1:237617394

Conflicting classifications of pathogenicity

Cardiomyopathy
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia
Condition: not provided
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
not specified

Criteria Provided
Conflicting Classifications

CA086981

rs_368669045

7 SubmittersRCV001185258 RCV002506090 RCV004000624 RCV004691233 RCV002356633 RCV003103770 RCV005239016

NM_001035.3(RYR2):c.4899T>C (p.Pro1633=)

SNV
Germline

Chr1:237610977

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16610071

rs_1060503853

5 SubmittersRCV001097294 RCV001188149 RCV001097295 RCV004002020 RCV002341060

NM_001035.3(RYR2):c.7354G>A (p.Val2452Met)

SNV
Germline

Chr1:237648455

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Cardiomyopathy
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
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA087378

rs_377136047

5 SubmittersRCV000620494 RCV001184262 RCV002522785 RCV002488999 RCV004000622

NM_001035.3(RYR2):c.1392C>A (p.His464Gln)

SNV
Germline

Chr1:237454490

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy
Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA085521

rs_749032742

9 SubmittersRCV000498149 RCV000522514 RCV000769774 RCV002526064 RCV004003435 RCV002489201 RCV004023275 RCV005404617

NM_001035.3(RYR2):c.950T>C (p.Met317Thr)

SNV
Germline

Chr1:237423193

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
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
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA087910

rs_367601258

8 SubmittersRCV000522925 RCV000620365 RCV001188885 RCV002525200 RCV002481717 RCV003993997

NM_001035.3(RYR2):c.1217C>T (p.Ser406Leu)

SNV
Germline

Chr1:237445447

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA085140

rs_759830423

6 SubmittersRCV000521452 RCV001190504 RCV002481695 RCV002525113 RCV004984938 RCV004003599

NM_001035.3(RYR2):c.2910C>T (p.Tyr970=)

SNV
Germline

Chr1:237548434

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Cardiovascular phenotype
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA086238

rs_575899061

6 SubmittersRCV001098742 RCV001098743 RCV001182242 RCV002438350 RCV003419948 RCV003999104

NM_001035.3(RYR2):c.9129-7T>C

SNV
Germline

Chr1:237700222

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA658656996

rs_1466669135

3 SubmittersRCV001101437 RCV001101438 RCV003999133

NM_001035.3(RYR2):c.12541G>A (p.Gly4181Arg)

SNV
Germline

Chr1:237784253

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
not specified
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Arrhythmogenic right ventricular dysplasia 2

Criteria Provided
Conflicting Classifications

CA085196

rs_775477470

9 SubmittersRCV000592307 RCV001189668 RCV002532446 RCV004002458 RCV005431790 RCV002420573 RCV002476301

NM_001035.3(RYR2):c.5614G>A (p.Asp1872Asn)

SNV
Germline

Chr1:237614742

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA086920

rs_761770946

6 SubmittersRCV001101129 RCV000613748 RCV001101128 RCV001176522 RCV002275071 RCV002350472

NM_001035.3(RYR2):c.10200T>C (p.Ala3400=)

SNV
Germline

Chr1:237709537

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
not specified
Catecholaminergic polymorphic ventricular tachycardia
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA084211

rs_779316628

7 SubmittersRCV000621241 RCV001096094 RCV001096095 RCV002282264 RCV004002637 RCV001180586 RCV001613406

NM_001035.3(RYR2):c.13220G>A (p.Ser4407Asn)

SNV
Germline

Chr1:237784932

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA085311

rs_755585430

5 SubmittersRCV000621019 RCV001101827 RCV001101828 RCV000772659 RCV004002654

NM_001035.3(RYR2):c.848+8G>C

SNV
Germline

Chr1:237417131

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
not specified
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA087647

rs_373075790

3 SubmittersRCV001102205 RCV001823741 RCV001102206

NM_001035.3(RYR2):c.3660T>A (p.Asp1220Glu)

SNV
Germline

Chr1:237589854

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Condition: not provided
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA39802038

rs_1019112544

6 SubmittersRCV000765088 RCV001766367 RCV002458037 RCV002529899 RCV003532214 RCV004003864

NM_001035.3(RYR2):c.2573C>T (p.Thr858Met)

SNV
Germline

Chr1:237503465

Conflicting classifications of pathogenicity

Sudden death
Hypertrophic cardiomyopathy
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA086075

rs_377068202

9 SubmittersRCV000678750 RCV000768528 RCV000773287 RCV002492993 RCV002458039 RCV002529925 RCV004691265 RCV004702230

NM_001035.3(RYR2):c.12091A>G (p.Thr4031Ala)

SNV
Germline

Chr1:237783803

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided
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
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA085124

rs_755148895

6 SubmittersRCV000771485 RCV001509129 RCV002343257 RCV002507087 RCV002533221 RCV004003867

NM_001035.3(RYR2):c.3883A>G (p.Ser1295Gly)

SNV
Germline

Chr1:237590715

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided
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
Catecholaminergic polymorphic ventricular tachycardia
not specified

Criteria Provided
Conflicting Classifications

CA072160

rs_200574919

11 SubmittersRCV000773286 RCV001090708 RCV002358805 RCV002499074 RCV002529892 RCV004003860 RCV004782484

NM_001035.3(RYR2):c.3371C>T (p.Pro1124Leu)

SNV
Germline

Chr1:237566723

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA086359

rs_779640835

5 SubmittersRCV001191182 RCV002483823 RCV002458038 RCV002529903 RCV004003865

NM_001035.3(RYR2):c.13410C>T (p.Tyr4470=)

SNV
Germline

Chr1:237788069

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia
not specified

Criteria Provided
Conflicting Classifications

CA085368

rs_183933829

6 SubmittersRCV001096403 RCV001096404 RCV001175625 RCV002386041 RCV004003894 RCV005056362

NM_001035.3(RYR2):c.1423A>C (p.Lys475Gln)

SNV
Germline

Chr1:237454521

Conflicting classifications of pathogenicity

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
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA085612

rs_765389300

5 SubmittersRCV001187697 RCV002531479 RCV002477572 RCV003362898 RCV003999607

NM_001035.3(RYR2):c.3477C>T (p.Gly1159=)

SNV
Germline

Chr1:237569198

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 2
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA086393

rs_780861754

3 SubmittersRCV002334324 RCV002485693 RCV002534331

NM_001035.3(RYR2):c.13175A>G (p.Lys4392Arg)

SNV
Germline

Chr1:237784887

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Cardiovascular phenotype
not specified
Catecholaminergic polymorphic ventricular tachycardia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA085303

rs_753733164

7 SubmittersRCV001101825 RCV001101826 RCV001181816 RCV002386225 RCV003235360 RCV003999677 RCV004691284

NM_001035.3(RYR2):c.3877C>G (p.Gln1293Glu)

SNV
Germline

Chr1:237590709

Conflicting classifications of pathogenicity

Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
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
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA39802811

rs_962100875

3 SubmittersRCV003227834 RCV002493209 RCV003525945

NM_001035.3(RYR2):c.1024G>A (p.Val342Met)

SNV
Germline

Chr1:237441337

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA077002

rs_371898166

4 SubmittersRCV002386171 RCV002477531 RCV002544768 RCV004004259

NM_001035.3(RYR2):c.4387C>T (p.Arg1463Cys)

SNV
Germline

Chr1:237593587

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy
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
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA086601

rs_764144130

5 SubmittersRCV000768530 RCV001805820 RCV002533705 RCV002507234 RCV003999747

NM_001035.3(RYR2):c.10725+4A>T

SNV
Germline

Chr1:237726312

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Condition: not provided
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA084497

rs_116444428

7 SubmittersRCV000769801 RCV001101643 RCV001101644 RCV002260667 RCV002422653 RCV003999931

NM_001035.3(RYR2):c.5428G>C (p.Val1810Leu)

SNV
Germline

Chr1:237614556

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
not specified
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA086888

rs_754364233

6 SubmittersRCV000774172 RCV001100856 RCV001100857 RCV003317363 RCV004659197 RCV004001359

NM_001035.3(RYR2):c.9190G>A (p.Ala3064Thr)

SNV
Germline

Chr1:237700290

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 2
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA087845

rs_375482798

7 SubmittersRCV000774129 RCV001332697 RCV002370037 RCV002507343 RCV002509530 RCV002536675

NM_001035.3(RYR2):c.5654G>C (p.Gly1885Ala)

SNV
Germline

Chr1:237614782

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
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
Catecholaminergic polymorphic ventricular tachycardia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA086927

rs_41315858

6 SubmittersRCV001525050 RCV002345761 RCV002537034 RCV002507378 RCV004001606 RCV004721609

NM_001035.3(RYR2):c.6284T>C (p.Ile2095Thr)

SNV
Germline

Chr1:237627924

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome

Criteria Provided
Conflicting Classifications

CA087086

rs_142498105

5 SubmittersRCV002537392 RCV004001772 RCV001188546 RCV002363125 RCV002487791

NM_001035.3(RYR2):c.2223A>G (p.Val741=)

SNV
Germline

Chr1:237500730

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Cardiovascular phenotype
not specified
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA085996

rs_117242563

6 SubmittersRCV001100448 RCV001100449 RCV001189324 RCV002427103 RCV003317392 RCV004002928

NM_001035.3(RYR2):c.5454T>C (p.Phe1818=)

SNV
Germline

Chr1:237614582

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Cardiovascular phenotype
not specified
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA086890

rs_201218861

8 SubmittersRCV000876375 RCV001100858 RCV001100859 RCV001179314 RCV003307650 RCV001701338 RCV004003114

NM_001035.3(RYR2):c.11877G>A (p.Ser3959=)

SNV
Germline

Chr1:237778767

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
not specified
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA085067

rs_754610647

6 SubmittersRCV001096313 RCV001585832 RCV001096314 RCV001190600 RCV004003067 RCV002336826

NM_001035.3(RYR2):c.8419A>G (p.Ile2807Val)

SNV
Germline

Chr1:237660930

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
not specified

Criteria Provided
Conflicting Classifications

CA345401986

rs_1394059438

7 SubmittersRCV000981786 RCV001185012 RCV002445137 RCV001097673 RCV001097674 RCV003317403

NM_001035.3(RYR2):c.8936G>A (p.Arg2979His)

SNV
Germline

Chr1:237680496

Conflicting classifications of pathogenicity

Cardiomyopathy
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
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA087789

rs_753179691

5 SubmittersRCV001189434 RCV002549863 RCV002481766 RCV004004427 RCV004986728

NM_001035.3(RYR2):c.1241G>A (p.Arg414His)

SNV
Germline

Chr1:237445471

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
not specified
Condition: not provided
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA39779763

rs_371121679

8 SubmittersRCV001176534 RCV001098557 RCV001098556 RCV001249002 RCV001700968 RCV005005000 RCV004004794

NM_001035.3(RYR2):c.4294A>C (p.Ile1432Leu)

SNV
Germline

Chr1:237593494

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
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
Catecholaminergic polymorphic ventricular tachycardia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA086595

rs_769163639

6 SubmittersRCV001524517 RCV002327263 RCV002481872 RCV002553057 RCV004004726 RCV005004991

NM_001035.3(RYR2):c.1789A>G (p.Ile597Val)

SNV
Germline

Chr1:237491886

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA085890

rs_770408945

3 SubmittersRCV001096890 RCV001096891 RCV005401732

NM_001035.3(RYR2):c.2175T>C (p.Tyr725=)

SNV
Germline

Chr1:237496724

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA085964

rs_758813812

5 SubmittersRCV001100447 RCV001100446 RCV001182621 RCV003363108 RCV004000235

NM_001035.3(RYR2):c.3766C>A (p.Pro1256Thr)

SNV
Germline

Chr1:237589960

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA086440

rs_769729405

3 SubmittersRCV001100938 RCV001100937 RCV001177232

NM_001035.3(RYR2):c.7035A>T (p.Ala2345=)

SNV
Germline

Chr1:237639121

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA423819059

rs_1681182291

4 SubmittersRCV001101222 RCV001101223 RCV001176192 RCV004000237

NM_001035.3(RYR2):c.7233C>A (p.Ala2411=)

SNV
Germline

Chr1:237643338

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA423819403

rs_367994477

4 SubmittersRCV001097474 RCV001097475 RCV001189684 RCV003293875

NM_001035.3(RYR2):c.9646G>A (p.Glu3216Lys)

SNV
Germline

Chr1:237707014

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA087938

rs_760965671

1 SubmittersRCV001097764 RCV001097765

NM_001035.3(RYR2):c.10414C>T (p.Arg3472Trp)

SNV
Germline

Chr1:237717288

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA345414530

rs_1689344988

4 SubmittersRCV001097853 RCV001097854 RCV004000227 RCV005401733

NM_001035.3(RYR2):c.11427G>A (p.Glu3809=)

SNV
Germline

Chr1:237760979

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA084958

rs_553350678

5 SubmittersRCV001099747 RCV001099748 RCV003160627 RCV001182052 RCV004000234

NM_001035.3(RYR2):c.14085A>C (p.Ser4695=)

SNV
Germline

Chr1:237798165

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA085556

rs_758566439

4 SubmittersRCV001096510 RCV001096509 RCV004659348 RCV005401731

NM_001035.3(RYR2):c.*399A>G

SNV
Germline

Chr1:237833046

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2

Criteria Provided
Conflicting Classifications

CA39835439

rs_184537159

1 SubmittersRCV001100127 RCV001100128

NM_001035.3(RYR2):c.463+14G>A

SNV
Germline

Chr1:237374809

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA086659

rs_776302587

4 SubmittersRCV001096713 RCV001096714 RCV001692349 RCV004702638

NM_001035.3(RYR2):c.3067-14G>C

SNV
Germline

Chr1:237550530

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA086281

rs_757471501

4 SubmittersRCV001102505 RCV001097095 RCV004000224 RCV001180848

NM_001035.3(RYR2):c.3598+13T>C

SNV
Germline

Chr1:237569332

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
not specified

Criteria Provided
Conflicting Classifications

CA086411

rs_145104355

3 SubmittersRCV001100934 RCV001100669 RCV005056886

NM_001035.3(RYR2):c.6688+13C>A

SNV
Germline

Chr1:237633723

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2

Criteria Provided
Conflicting Classifications

CA733309631

rs_1262322008

2 SubmittersRCV001099219 RCV001099220

NM_001035.3(RYR2):c.5509G>A (p.Glu1837Lys)

SNV
Germline

Chr1:237614637

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
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
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA086896

rs_749184443

5 SubmittersRCV001187879 RCV002348630 RCV002484027 RCV002559996 RCV004008746

NM_001035.3(RYR2):c.12920G>A (p.Arg4307His)

SNV
Germline

Chr1:237784632

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA085257

rs_769146715

5 SubmittersRCV001191177 RCV002559186 RCV004803547 RCV002484047 RCV002379735

NM_001035.3(RYR2):c.14151C>T (p.Asn4717=)

SNV
Germline

Chr1:237801916

Conflicting classifications of pathogenicity

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
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA424051584

rs_1479892874

4 SubmittersRCV001183300 RCV002491534 RCV002559832 RCV004008370

NM_001035.3(RYR2):c.5671G>A (p.Glu1891Lys)

SNV
Germline

Chr1:237614799

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia
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
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA345405773

rs_1224597817

5 SubmittersRCV004010737 RCV002491688 RCV002562514 RCV005402993 RCV005480618

NM_001035.3(RYR2):c.2545G>A (p.Asp849Asn)

SNV
Germline

Chr1:237503437

Conflicting classifications of pathogenicity

Condition: not provided
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Cardiomyopathy
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA086068

rs_372569289

8 SubmittersRCV001256776 RCV002484100 RCV002429871 RCV003532891 RCV004819240 RCV004010632 RCV002561131

NM_001035.3(RYR2):c.14161T>C (p.Tyr4721His)

SNV
Germline

Chr1:237806146

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA345422601

rs_1660612706

3 SubmittersRCV001261974 RCV001245502 RCV005623088

NM_001035.3(RYR2):c.6202C>T (p.Arg2068Ter)

SNV
Germline

Chr1:237627842

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA345410438

rs_1679845277

2 SubmittersRCV001263016 RCV004762039 RCV004720830

NM_001035.3(RYR2):c.12638A>G (p.Glu4213Gly)

SNV
Germline

Chr1:237784350

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia
Arrhythmogenic right ventricular dysplasia 2
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA345413806

rs_1178157004

4 SubmittersRCV002541904 RCV002447282 RCV004004991 RCV002493581

NM_001035.3(RYR2):c.12865A>G (p.Ser4289Gly)

SNV
Germline

Chr1:237784577

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA345414501

rs_1386632671

4 SubmittersRCV002476447 RCV003153986 RCV004005069 RCV003532941

NM_001035.3(RYR2):c.6811G>T (p.Gly2271Cys)

SNV
Germline

Chr1:237638375

Conflicting classifications of pathogenicity

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
Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome

Criteria Provided
Conflicting Classifications

CA087230

rs_375371340

5 SubmittersRCV002368152 RCV002499702 RCV002547513 RCV004005237 RCV005400760

NM_001035.3(RYR2):c.5311A>G (p.Ile1771Val)

SNV
Germline

Chr1:237614439

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA345404748

rs_1678240011

3 SubmittersRCV002493885 RCV002350711 RCV002548634

NM_001035.3(RYR2):c.5662C>T (p.Arg1888Trp)

SNV
Germline

Chr1:237614790

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 2
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA39828812

rs_1006109370

4 SubmittersRCV001755381 RCV002343837 RCV002489811 RCV003526106

NM_001035.3(RYR2):c.12664G>A (p.Glu4222Lys)

SNV
Germline

Chr1:237784376

Conflicting classifications of pathogenicity

Cardiomyopathy
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
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA085213

rs_758453646

4 SubmittersRCV001805282 RCV002541424 RCV002482337 RCV004009117

NM_015978.3(TNNI3K):c.1538T>C (p.Leu513Pro)

SNV
Unknown

Chr1:74369456

Likely pathogenic

Arrhythmogenic right ventricular dysplasia 2

Criteria Provided
Single Submitter

CA340786188

rs_1294489336

1 SubmittersRCV001807868

NM_001035.3(RYR2):c.11623G>T (p.Val3875Leu)

SNV
Germline

Chr1:237772077

Likely pathogenic

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA345407225

rs_1060500137

2 SubmittersRCV003147725 RCV002579534 RCV003147726

NM_001035.3(RYR2):c.11805G>C (p.Leu3935Phe)

SNV
Unknown

Chr1:237778695

Likely pathogenic

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome

Criteria Provided
Single Submitter

CA345409132

rs_2527697526

1 SubmittersRCV003148098 RCV003148099 RCV003148100