Total 195 pathogenic variants reported for Arrhythmogenic right ventricular dysplasia 2 
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 SubmittersRCV000036714RCV000157446RCV000242970RCV000287643RCV001093912RCV000786207RCV001181067

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 SubmittersRCV000030422RCV000154818RCV001097194RCV001097193RCV003996140RCV004018690

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 SubmittersRCV000036768RCV000272540RCV000252666RCV000769786RCV001093868RCV001841543RCV001530065RCV003996141

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 SubmittersRCV000036649RCV000202863RCV000246904RCV000768787RCV001528231RCV001097852RCV004534774

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 SubmittersRCV000036652RCV000723746RCV000391538RCV000769800RCV001093894RCV003996236

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 SubmittersRCV000036661RCV001525529RCV002496571RCV003996240RCV004566804RCV002513397

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 SubmittersRCV000036665RCV002482979RCV002513400RCV003996243

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 SubmittersRCV000036670RCV000378772RCV001182008RCV001093785RCV000766732RCV003996246RCV004018804RCV002482980

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 SubmittersRCV000036671RCV000247809RCV000349414RCV000724810RCV000769809RCV001093786RCV003996247

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 SubmittersRCV000036675RCV000617184RCV001101824RCV001529567RCV000777845RCV001101823RCV003996249

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 SubmittersRCV000036706RCV000618567RCV001100322RCV001100323RCV000771845RCV001528256RCV003996261

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 SubmittersRCV000036721RCV000368575RCV000618697RCV000724532RCV000769780RCV001093756RCV003996268

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 SubmittersRCV000036725RCV000251649RCV000769782RCV001097096RCV001097097

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 SubmittersRCV000036729RCV000171762RCV000157454RCV001293091RCV001098853RCV001098854RCV000769783RCV001254751RCV002453307

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 SubmittersRCV000036739RCV000405365RCV001719733RCV001189398RCV001093761RCV002321507RCV003996279RCV004739325

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 SubmittersRCV000036755RCV000589910RCV000300038RCV000620163RCV000771249RCV001093874RCV003996285

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 SubmittersRCV000036769RCV000245051RCV000309384RCV001093879RCV000777598RCV001528654RCV003996292

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 SubmittersRCV000036777RCV000171764RCV000620555RCV000766718RCV000769789RCV001099125RCV004803128

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 SubmittersRCV000036782RCV000265346RCV000589666RCV000768754RCV001093846RCV003996296RCV002362626

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 SubmittersRCV000036794RCV000227013RCV000656198RCV000590879RCV000621651RCV000771869RCV001095884RCV001095885RCV004803129RCV004541108

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 SubmittersRCV000036796RCV001095886RCV001095887RCV001175860RCV002496576RCV003996303RCV004017312

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 SubmittersRCV000036802RCV001101435RCV001101436RCV001529841

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 SubmittersRCV000079381RCV000391386RCV000656194RCV001093747RCV001189215RCV002498396RCV003380409RCV003997206

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 SubmittersRCV000151763RCV000621601RCV000402454RCV001093867RCV001190173RCV003221817RCV003997458

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 SubmittersRCV000127846RCV000263240RCV000619991RCV000858422RCV001093729RCV001186657RCV003997463RCV004544284

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 SubmittersRCV000127848RCV000373146RCV000777784RCV001093730RCV001705921RCV002371972

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 SubmittersRCV000148833RCV000182707RCV000589142RCV000619628RCV000771801RCV001102502

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 SubmittersRCV000151754RCV000171760RCV000619874RCV000415633RCV001171188RCV001098450

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 SubmittersRCV000156613RCV000339701RCV000393529RCV001701536

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 SubmittersRCV000154813RCV000656970RCV000771900RCV000619369RCV002470780RCV002478454RCV003147363RCV003147362

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 SubmittersRCV000154815RCV000515405RCV001186656RCV002514976RCV002433679RCV001256781

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 SubmittersRCV000154816RCV000246594RCV000766712RCV001100557RCV001100558RCV001178122

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 SubmittersRCV000154819RCV000515200RCV000678836RCV000725016RCV000768765RCV002326882RCV002514978

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 SubmittersRCV000151764RCV000306276RCV000405632RCV000771789RCV003221825

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 SubmittersRCV000154822RCV000266128RCV000777709RCV000618927RCV001093778RCV003998277

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 SubmittersRCV000156487RCV000346271RCV000384549RCV001185015

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 SubmittersRCV000151775RCV000577997RCV000577938RCV000578054RCV000620731RCV000766733RCV000852418RCV000777878RCV003998229

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 SubmittersRCV000156007RCV000477834RCV000766708RCV001177069RCV002515008RCV002408693

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 SubmittersRCV000154814RCV000252643RCV000777999RCV001102503RCV001102504RCV003998274

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 SubmittersRCV000154633RCV000253861RCV000333639RCV000587853RCV000768786RCV001093782

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 SubmittersRCV000151772RCV000229147RCV000621644RCV000769804RCV001096209RCV001096208RCV004544362RCV003998227

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 SubmittersRCV000157443RCV002381509RCV002516363RCV002478470RCV005051754

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 SubmittersRCV000157460RCV000212982RCV000171765RCV000618062RCV000769797RCV001095882RCV001095883RCV003998341

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 SubmittersRCV000171763RCV000212979RCV000773225RCV001098955RCV001100766RCV002326941

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 SubmittersRCV000171768RCV000212983RCV000618657RCV000776390RCV001101822RCV001101821RCV004539578

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 SubmittersRCV000171689RCV001179791RCV002381553RCV002478547RCV002515251RCV003995653

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 SubmittersRCV000724470RCV000771974RCV002321702RCV002298503RCV002517704RCV003993857

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 SubmittersRCV000477870RCV002516866

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 SubmittersRCV000182659RCV000208033RCV001332696RCV002345634RCV005222807

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 SubmittersRCV000182680RCV000202619RCV000219729RCV000515377RCV001194068RCV002426877RCV002470799

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 SubmittersRCV000182621RCV001100450RCV001102404RCV001184503RCV002444732RCV003996726

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 SubmittersRCV000182624RCV000404420RCV000619882RCV000769778RCV001093754RCV001172025RCV003996727

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 SubmittersRCV000182708RCV000456036RCV001191860RCV002254283RCV002321722RCV002516878RCV003996752

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 SubmittersRCV000182625RCV001100668RCV001100667RCV001189913RCV003996728RCV005404352

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 SubmittersRCV000182717RCV002354480RCV002500539RCV002515324

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 SubmittersRCV000182870RCV000415707RCV000777782RCV001093762RCV002321724RCV003227703

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 SubmittersRCV000490424RCV000619293RCV000776180RCV001100767RCV001704872RCV003235105

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 SubmittersRCV000182632RCV000406951RCV000777693RCV001093820RCV002345633RCV003996731

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 SubmittersRCV000182874RCV001253231RCV005089919

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 SubmittersRCV000182758RCV001535748RCV002272163RCV002372117

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 SubmittersRCV000182635RCV000252731RCV000343987RCV000777732RCV001093830RCV003884379RCV003996733RCV004537529

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 SubmittersRCV000182880RCV001175683RCV001337100RCV002426879RCV002515342RCV003996798

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 SubmittersRCV000216905RCV000590419RCV000768781RCV001099559RCV001099558RCV002372115RCV003996735

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 SubmittersRCV000182645RCV000620224RCV000771837RCV001099829RCV001099830RCV003996736

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 SubmittersRCV000182647RCV000589602RCV000778051RCV001099836RCV001099835RCV004658979RCV003996737

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 SubmittersRCV000182838RCV001254617

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 SubmittersRCV000375573RCV000208027RCV002298528RCV000320906RCV002347815

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 SubmittersRCV000208489RCV001194102RCV002381717RCV002515553RCV002494544

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 SubmittersRCV000219778RCV000393090RCV000777731RCV001093833RCV000845308RCV003997723RCV004530315RCV002372220

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 SubmittersRCV000223326RCV000771970RCV003997755RCV001249323RCV001762465RCV002444864RCV002485398RCV004739606

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 SubmittersRCV000222809RCV001097952RCV001097953RCV001182284RCV003997747

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 SubmittersRCV000221328RCV000263558RCV001170491RCV001706238RCV002381735RCV001093790RCV003997716

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 SubmittersRCV000253028RCV001096093RCV000427858RCV001096092RCV001179774RCV004542953RCV003995719

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 SubmittersRCV000253045RCV001096511RCV001096512RCV001525672RCV001705400RCV003995733

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 SubmittersRCV000247128RCV001182015RCV001099831RCV001099832RCV003999002

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 SubmittersRCV000372481RCV000388524RCV001093792RCV001181804RCV003995768RCV002379122

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 SubmittersRCV000328522RCV001093800RCV001188880RCV003995808RCV005480351

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 SubmittersRCV000282403RCV000374594

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 SubmittersRCV000266767RCV000321920RCV002321973RCV003995812

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 SubmittersRCV000308159RCV000617753RCV000777776RCV000605932RCV001093870RCV001532584RCV003995814RCV004739669

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 SubmittersRCV000276193RCV000333568RCV001179330RCV001431862RCV002446541RCV005418064

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 SubmittersRCV000327567RCV000384491RCV001187867RCV003995819RCV003330632

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 SubmittersRCV000336208RCV000388355RCV001178094RCV003995821RCV003362750RCV003226918RCV005407032

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 SubmittersRCV000347849RCV000404124RCV001180286RCV003330633RCV004804984RCV002379162

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 SubmittersRCV000264362RCV001093890RCV001805006RCV003995823RCV005268587

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 SubmittersRCV000298794RCV001093733RCV001582919RCV001188871RCV001764262RCV002450844RCV003995825

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 SubmittersRCV000264698RCV001668650RCV000375824

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 SubmittersRCV000291767RCV001093908RCV001525478

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 SubmittersRCV000336721RCV000372653RCV001178100RCV002450843RCV002504044RCV004804983

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 SubmittersRCV000282361RCV000335017RCV001528938RCV001175583RCV001798778

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 SubmittersRCV000337602RCV000621893RCV001000975RCV001093897RCV001179551RCV001553008RCV003995828

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 SubmittersRCV000280510RCV000349479

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 SubmittersRCV000312964RCV000351465RCV000439987RCV001178366RCV003995803RCV001699290

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 SubmittersRCV000361184RCV000432303RCV000621348RCV000768757RCV001093847RCV001718598RCV003995805RCV004543169

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 SubmittersRCV000310234RCV000617646RCV000418654RCV001093810RCV001191830RCV004739668RCV001723881RCV003995811

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 SubmittersRCV000282078RCV000376490

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 SubmittersRCV000324884RCV000377072RCV001192119RCV001195553RCV002379161

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 SubmittersRCV000361343RCV001093889RCV001187921RCV002379163RCV003995822

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 SubmittersRCV000298647RCV002379164RCV000353478

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 SubmittersRCV000344574RCV001093841RCV001177067RCV001590913RCV002502178RCV002379165RCV003995832

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 SubmittersRCV000284444RCV000376366RCV002510838

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 SubmittersRCV000345410RCV000399388

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 SubmittersRCV000326370RCV000383327RCV001178101RCV003995806RCV005404483

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 SubmittersRCV000280870RCV000338236RCV000777686RCV001651346RCV001699344RCV003995807

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 SubmittersRCV000274601RCV000366756

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 SubmittersRCV000281373RCV001093771RCV001711777RCV005402902RCV002356406

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 SubmittersRCV000285379RCV000342737RCV001525493RCV003995818RCV002392828

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 SubmittersRCV000307391RCV000424468RCV001093727RCV001180601RCV002446542RCV003995820

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 SubmittersRCV000305852RCV000391540RCV001183237RCV001256775RCV002392829RCV003995824

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 SubmittersRCV000272050RCV000329474RCV001178092RCV003995827

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 SubmittersRCV000321372RCV005230232RCV000380613RCV000419639

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 SubmittersRCV000286175RCV000336517RCV001255471

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 SubmittersRCV000264286RCV000433519RCV001093737RCV000727442RCV001178371RCV002348035RCV003995829RCV004537660

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 SubmittersRCV000296211RCV000398770RCV001180285RCV002365341RCV003995830RCV003330634

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 SubmittersRCV000289309RCV000381395RCV003417954

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 SubmittersRCV000420297RCV001101641RCV001101642

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 SubmittersRCV000419994RCV001178358RCV001100936RCV001100935RCV004567904RCV003995980RCV002348152

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 SubmittersRCV000417432RCV001098741RCV001098740RCV001187663RCV004984872RCV004000350

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 SubmittersRCV000428607RCV001097471RCV001097470RCV002365524RCV001183033RCV004000429

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 SubmittersRCV000427003RCV001101440RCV002374639RCV001101439RCV001179773RCV001712361RCV003996011RCV004530556

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 SubmittersRCV000756606RCV001099048RCV000620181RCV000769785RCV000852597RCV001099049RCV004539926RCV005056009

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 SubmittersRCV002411425RCV002526384RCV002480340

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 SubmittersRCV002480341RCV003532125RCV004000630RCV002379411RCV002523282

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 SubmittersRCV000589442RCV001101534RCV001101535RCV002383853RCV001178578RCV001700119RCV004002015

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 SubmittersRCV002282148RCV002488998RCV003153575RCV005480368

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 SubmittersRCV001185258RCV002506090RCV004000624RCV004691233RCV002356633RCV003103770RCV005239016

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 SubmittersRCV001097294RCV001188149RCV001097295RCV004002020RCV002341060

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 SubmittersRCV000620494RCV001184262RCV002522785RCV002488999RCV004000622

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 SubmittersRCV000498149RCV000522514RCV000769774RCV002526064RCV004003435RCV002489201RCV004023275RCV005404617

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 SubmittersRCV000522925RCV000620365RCV001188885RCV002525200RCV002481717RCV003993997

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 SubmittersRCV000521452RCV001190504RCV002481695RCV002525113RCV004984938RCV004003599

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 SubmittersRCV001098742RCV001098743RCV001182242RCV002438350RCV003419948RCV003999104

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 SubmittersRCV001101437RCV001101438RCV003999133

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 SubmittersRCV000592307RCV001189668RCV002532446RCV004002458RCV005431790RCV002420573RCV002476301

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 SubmittersRCV001101129RCV000613748RCV001101128RCV001176522RCV002275071RCV002350472

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 SubmittersRCV000621241RCV001096094RCV001096095RCV002282264RCV004002637RCV001180586RCV001613406

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 SubmittersRCV000621019RCV001101827RCV001101828RCV000772659RCV004002654

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 SubmittersRCV001102205RCV001823741RCV001102206

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 SubmittersRCV000765088RCV001766367RCV002458037RCV002529899RCV003532214RCV004003864

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 SubmittersRCV000678750RCV000768528RCV000773287RCV002492993RCV002458039RCV002529925RCV004691265RCV004702230

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 SubmittersRCV000771485RCV001509129RCV002343257RCV002507087RCV002533221RCV004003867

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 SubmittersRCV000773286RCV001090708RCV002358805RCV002499074RCV002529892RCV004003860RCV004782484

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 SubmittersRCV001191182RCV002483823RCV002458038RCV002529903RCV004003865

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 SubmittersRCV001096403RCV001096404RCV001175625RCV002386041RCV004003894RCV005056362

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 SubmittersRCV001187697RCV002531479RCV002477572RCV003362898RCV003999607

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 SubmittersRCV002334324RCV002485693RCV002534331

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 SubmittersRCV001101825RCV001101826RCV001181816RCV002386225RCV003235360RCV003999677RCV004691284

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 SubmittersRCV003227834RCV002493209RCV003525945

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 SubmittersRCV002386171RCV002477531RCV002544768RCV004004259

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 SubmittersRCV000768530RCV001805820RCV002533705RCV002507234RCV003999747

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 SubmittersRCV000769801RCV001101643RCV001101644RCV002260667RCV002422653RCV003999931

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 SubmittersRCV000774172RCV001100856RCV001100857RCV003317363RCV004659197RCV004001359

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 SubmittersRCV000774129RCV001332697RCV002370037RCV002507343RCV002509530RCV002536675

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 SubmittersRCV001525050RCV002345761RCV002537034RCV002507378RCV004001606RCV004721609

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 SubmittersRCV002537392RCV004001772RCV001188546RCV002363125RCV002487791

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 SubmittersRCV001100448RCV001100449RCV001189324RCV002427103RCV003317392RCV004002928

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 SubmittersRCV000876375RCV001100858RCV001100859RCV001179314RCV003307650RCV001701338RCV004003114

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 SubmittersRCV001096313RCV001585832RCV001096314RCV001190600RCV004003067RCV002336826

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 SubmittersRCV000981786RCV001185012RCV002445137RCV001097673RCV001097674RCV003317403

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 SubmittersRCV001189434RCV002549863RCV002481766RCV004004427RCV004986728

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 SubmittersRCV001176534RCV001098557RCV001098556RCV001249002RCV001700968RCV005005000RCV004004794

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 SubmittersRCV001524517RCV002327263RCV002481872RCV002553057RCV004004726RCV005004991

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 SubmittersRCV001096890RCV001096891RCV005401732

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 SubmittersRCV001100447RCV001100446RCV001182621RCV003363108RCV004000235

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 SubmittersRCV001100938RCV001100937RCV001177232

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 SubmittersRCV001101222RCV001101223RCV001176192RCV004000237

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 SubmittersRCV001097474RCV001097475RCV001189684RCV003293875

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 SubmittersRCV001097764RCV001097765

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 SubmittersRCV001097853RCV001097854RCV004000227RCV005401733

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 SubmittersRCV001099747RCV001099748RCV003160627RCV001182052RCV004000234

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 SubmittersRCV001096510RCV001096509RCV004659348RCV005401731

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 SubmittersRCV001100127RCV001100128

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 SubmittersRCV001096713RCV001096714RCV001692349RCV004702638

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 SubmittersRCV001102505RCV001097095RCV004000224RCV001180848

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 SubmittersRCV001100934RCV001100669RCV005056886

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 SubmittersRCV001099219RCV001099220

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 SubmittersRCV001187879RCV002348630RCV002484027RCV002559996RCV004008746

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 SubmittersRCV001191177RCV002559186RCV004803547RCV002484047RCV002379735

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 SubmittersRCV001183300RCV002491534RCV002559832RCV004008370

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 SubmittersRCV004010737RCV002491688RCV002562514RCV005402993RCV005480618

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 SubmittersRCV001256776RCV002484100RCV002429871RCV003532891RCV004819240RCV004010632RCV002561131

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 SubmittersRCV001261974RCV001245502RCV005623088

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 SubmittersRCV001263016RCV004762039RCV004720830

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 SubmittersRCV002541904RCV002447282RCV004004991RCV002493581

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 SubmittersRCV002476447RCV003153986RCV004005069RCV003532941

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 SubmittersRCV002368152RCV002499702RCV002547513RCV004005237RCV005400760

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 SubmittersRCV002493885RCV002350711RCV002548634

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 SubmittersRCV001755381RCV002343837RCV002489811RCV003526106

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 SubmittersRCV001805282RCV002541424RCV002482337RCV004009117

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 SubmittersRCV003147725RCV002579534RCV003147726

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 SubmittersRCV003148098RCV003148099RCV003148100