RYR2 — 9055 ClinVar variants

All ClinVar germline RYR2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 2270 flagged for review →

68 Pathogenic · 30 Pathogenic/Likely pathogenic · 133 Likely pathogenic · 643 Conflicting · 364 Benign · 185 Benign/Likely benign · 3068 Likely benign · 4564 Uncertain significance

Full RYR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 2270

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 3

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

RYR2 p.Val4771Ile Pathogenic Multiple submitters
RYR2-related disorder
RYR2 p.Gln3230Arg Likely pathogenic Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Gln3230Lys Likely pathogenic Single submitter
catecholaminergic polymorphic ventricular tachycardia 1

Predictors agree, ClinVar conflicts 178

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 178

RYR2 p.Ala1134Ser Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Ala1717Ser Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Ala1806Thr Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Ala2403Val Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Ala2499Thr Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Ala2673Val Conflicting Single submitter
cardiomyopathy
RYR2 p.Ala2817Thr Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Ala440Thr Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Ala440Val Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Ala4510Thr Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Ala4510Val Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Ala763Thr Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Arg1041Gln Conflicting Single submitter
cardiomyopathy
RYR2 p.Arg1051Cys Conflicting Single submitter
ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
RYR2 p.Arg1133Cys Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Arg1133His Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Arg1461Gly Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Arg1463Cys Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Arg1585His Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Arg1760Gln Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Arg1807Gln Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Arg1888Gln Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Arg1888Trp Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Arg1919Gln Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Arg2401Cys Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Arg2420Thr Conflicting Single submitter
RYR2-related disorder
RYR2 p.Arg2518Trp Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Arg3248His Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Arg3260Gln Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Arg3260Trp Conflicting Single submitter
cardiomyopathy
RYR2 p.Arg3567His Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Arg3567Pro Conflicting Single submitter
cardiomyopathy
RYR2 p.Arg3570Gln Conflicting Single submitter
cardiomyopathy
RYR2 p.Arg417Leu Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Arg4608Gln Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Arg4608Trp Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Arg4822His Conflicting Single submitter
RYR2-related disorder
RYR2 p.Arg4959Trp Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Arg929Cys Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Asn1149Ser Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Asn1551Ser Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Asn1836Ser Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Asn1978Ser Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Asn2365Ser Conflicting Single submitter
cardiomyopathy
RYR2 p.Asn2899Ser Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Asn3095Ser Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Asn3200Thr Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Asn3257Ser Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Asn3989His Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Asn4111His Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Asn547Lys Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Asp1199Asn Conflicting Single submitter
cardiomyopathy
RYR2 p.Asp1872Asn Conflicting Single submitter
Arrhythmogenic right ventricular dysplasia 2
RYR2 p.Asp1931Glu Conflicting Single submitter
cardiomyopathy
RYR2 p.Asp2300Gly Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Asp358Gly Conflicting Single submitter
RYR2-related disorder
RYR2 p.Asp4001Asn Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Asp4112Asn Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Asp446Asn Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Asp4745Asn Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Asp680Gly Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Asp868Gly Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Asp959Glu Conflicting Single submitter
cardiomyopathy
RYR2 p.Cys2277Arg Conflicting Single submitter
RYR2 p.Cys3800Ser Conflicting Single submitter
Arrhythmogenic right ventricular dysplasia 2
RYR2 p.Cys3800Tyr Conflicting Single submitter
cardiomyopathy
RYR2 p.Gln1762Arg Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Gln3727Arg Conflicting Single submitter
ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
RYR2 p.Gln4460Arg Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Gln4936Arg Conflicting Single submitter
cardiomyopathy
RYR2 p.Glu1091Lys Conflicting Single submitter
RYR2-related disorder
RYR2 p.Glu1837Lys Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Glu1865Lys Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Glu1882Gly Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Glu1891Lys Conflicting Single submitter
Arrhythmogenic right ventricular dysplasia 2
RYR2 p.Glu3216Lys Conflicting Single submitter
Arrhythmogenic right ventricular dysplasia 2
RYR2 p.Glu3262Lys Conflicting Single submitter
cardiomyopathy
RYR2 p.Glu3750Asp Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Glu4081Lys Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Gly1208Arg Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Gly1832Ser Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Gly1885Ala Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Gly1885Trp Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Gly2145Arg Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Gly220Glu Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Gly230Asp Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Gly2337Glu Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Gly2337Val Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Gly2459Arg Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Gly385Arg Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Gly3863Asp Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Gly3946Arg Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Gly4671Val Conflicting Single submitter
RYR2-related disorder
RYR2 p.Gly4828Arg Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Gly4904Asp Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Gly4904Ser Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Gly4Ala Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Gly786Asp Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.His3252Arg Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.His4552Arg Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.His4579Tyr Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Ile1771Val Conflicting Single submitter
Arrhythmogenic right ventricular dysplasia 2
RYR2 p.Ile1973Val Conflicting Single submitter
cardiomyopathy
RYR2 p.Ile2746Met Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Ile2960Thr Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Ile3133Val Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Ile403Leu Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Ile4635Asn Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Ile4857Val Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Ile4926Thr Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Ile559Val Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Ile881Arg Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Leu14Pro Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Leu1864Met Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Leu1868Ile Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Leu2426Phe Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Leu4105Phe Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Leu4115Arg Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Leu4720Pro Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Leu677Met Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Leu900Phe Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Leu943Ser Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Lys1884Arg Conflicting Single submitter
cardiomyopathy
RYR2 p.Lys2053Arg Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Lys3997Glu Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Lys4457Asn Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Lys4543Glu Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Met1173Val Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Met317Thr Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Met3246Val Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Met4109Thr Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Phe13Leu Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Phe4851Leu Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Pro1565Ala Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Pro1583Ser Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Pro1857Leu Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Pro2328Leu Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Pro2404Ser Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Pro3087Ser Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Pro3258Ser Conflicting Single submitter
cardiomyopathy
RYR2 p.Pro4534Ser Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Pro817Ala Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Ser2050Arg Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Ser273Phe Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Ser2750Thr Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Ser2797Asn Conflicting Single submitter
arrhythmogenic right ventricular cardiomyopathy
RYR2 p.Ser525Ala Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Thr1036Ser Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Thr1056Met Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Thr1107Met Conflicting Single submitter
Cardiovascular phenotype

Predicted LoF vs a conflicting call 4

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

RYR2 c.848+1G>A Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Arg2068Ter Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Arg4790Ter Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Cys2991fs Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia

Predictors lean, ClinVar uncertain 1776

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 1776

RYR2 p.Ala1000Ser Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Ala1000Val Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Ala1008Glu Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Ala1008Val Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Ala1073Thr Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Ala1098Ser Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Ala1098Val Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Ala1142Val Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Ala1513Val Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Ala1542Val Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Ala1568Val Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Ala1806Val Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Ala1873Thr Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Ala1934Val Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Ala2317Val Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Ala2334Thr Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Ala2439Gly Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Ala2513Val Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Ala2515Thr Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Ala2825Asp Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Ala2841Glu Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Ala2883Asp Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Ala3065Glu Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Ala3169Val Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Ala3267Thr Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Ala3294Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Ala3482Thr Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Ala3675Gly Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Ala3690Pro Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Ala3736Gly Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Ala3736Thr Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Ala3746Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Ala3909Thr Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Ala4070Val Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Ala435Val Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Ala442Pro Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Ala442Ser Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Ala4542Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Ala4542Thr Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Ala4556Ser Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Ala4741Thr Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Ala4741Val Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Ala567Pro Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Ala738Gly Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Ala763Val Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Ala886Pro Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Arg1009Pro Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Arg1009Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Arg1031His Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Arg1055Cys Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Arg1055His Uncertain significance Multiple submitters
ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
RYR2 p.Arg1055Leu Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Arg1089Cys Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Arg1089His Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Arg111Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Arg111Gly Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Arg1133Gly Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Arg1133Leu Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Arg1500Leu Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Arg1585Cys Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Arg1671Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Arg1699Cys Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Arg1699His Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Arg1807Trp Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Arg190Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Arg190Ser Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Arg1921Gln Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Arg1921Trp Uncertain significance Multiple submitters
Arrhythmogenic right ventricular dysplasia 2
RYR2 p.Arg2026Thr Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Arg2068Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Arg2127Gln Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Arg2127Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Arg2198Cys Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Arg2198His Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Arg2205Cys Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Arg2205His Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Arg2258Pro Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Arg2326Trp Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Arg2497Trp Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Arg2566Pro Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Arg2566Trp Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Arg272Cys Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Arg272His Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Arg272Leu Uncertain significance Multiple submitters
ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
RYR2 p.Arg2772Leu Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Arg2920Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Arg2920Leu Uncertain significance Multiple submitters
Arrhythmogenic right ventricular dysplasia 2
RYR2 p.Arg2920Pro Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Arg296Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Arg3016Gly Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Arg3018Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Arg3190Gln Uncertain significance Multiple submitters
Arrhythmogenic right ventricular dysplasia 2
RYR2 p.Arg3550Gly Uncertain significance Multiple submitters
ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
RYR2 p.Arg3597Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Arg3604Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Arg3604Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Arg3613Gly Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Arg3615Gln Uncertain significance Multiple submitters
RYR2-related disorder
RYR2 p.Arg3615Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Arg3730Gln Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Arg3734His Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Arg3810Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Arg3841Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Arg3880Thr Uncertain significance Multiple submitters
ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
RYR2 p.Arg389Cys Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Arg389Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Arg4114Gly Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Arg4602Gln Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Arg4790Gln Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Arg4790Leu Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Arg4822Gly Uncertain significance Multiple submitters
arrhythmogenic right ventricular cardiomyopathy
RYR2 p.Arg485Trp Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Arg4947Ser Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Arg545Cys Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Arg626Cys Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Arg640Gly Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Arg694Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Arg76Gln Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Arg76Trp Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Arg929Gly Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Arg929Ser Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Asn1503Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Asn1723Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Asn2177Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Asn2210Asp Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Asn2291Asp Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Asn4514Ser Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Asn544Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Asn888Ser Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Asp1010Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Asp1023Asn Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Asp1039Gly Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Asp1048Gly Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Asp1070His Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Asp1184His Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Asp1741Glu Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Asp1862Gly Uncertain significance Multiple submitters
Arrhythmogenic right ventricular dysplasia 2
RYR2 p.Asp1872Glu Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Asp204Val Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Asp2077Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Asp2077Gly Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Asp2148Val Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Asp242Val Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Asp2473Gly Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Asp2595Gly Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Asp2836Glu Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Asp2885Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Asp3067Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Asp3457Ala Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Asp3662Glu Uncertain significance Multiple submitters
Cardiovascular phenotype

Predictors split 309

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 309

RYR2 p.Ala157Ser Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Ala2083Thr Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Ala26Thr Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Ala2725Ser Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Ala38Thr Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Ala4556Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Ala979Val Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Arg1013Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Arg122Cys Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Arg137Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Arg1500His Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Arg1610Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Arg1614His Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Arg1659Trp Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Arg2090Gln Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Arg2100Trp Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Arg2144His Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Arg257Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Arg2772His Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Arg3084Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Arg332Gln Uncertain significance Multiple submitters
ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
RYR2 p.Arg3454His Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Arg3673Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Arg3904Trp Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Arg417Gln Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Arg504Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Asn3851Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Asn658Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Asp17Asn Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Asp2455Asn Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Asp318Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Asp3706Tyr Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Asp94Val Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Cys24Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Gln209Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Gln32Pro Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Glu1478Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Glu2079Ala Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Glu2079Lys Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Glu3502Ala Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Glu3630Gly Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Glu4082Ala Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Glu4659Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Glu468Gly Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Gly108Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Gly1701Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Gly199Val Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Gly2182Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Gly2271Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Gly2786Ser Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Gly3113Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Gly3225Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Gly385Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Gly432Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Gly432Val Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Gly4471Arg Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Gly5Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.His261Arg Uncertain significance Multiple submitters
ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
RYR2 p.His270Tyr Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Ile1446Thr Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Ile1689Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Ile2108Val Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Ile2288Thr Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Ile2353Val Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Ile2770Met Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Ile3290Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Ile460Thr Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Ile4701Thr Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Leu1650Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Leu1658Val Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Leu2299Val Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Leu245Val Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Leu306Val Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Leu46Ile Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Lys1043Arg Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Lys2894Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Lys3717Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Lys799Asn Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Lys841Glu Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Lys923Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Met1628Val Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Met2084Val Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Met2389Leu Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Met2782Val Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Met3754Val Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Met4728Val Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Phe1825Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Pro2078Ser Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Pro2260Leu Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Pro294Leu Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Pro3544Leu Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Pro466Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Pro4802Leu Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Ser134Cys Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Ser213Ile Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Ser2764Cys Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Ser3143Arg Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Ser4695Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Ser4700Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Ser532Tyr Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Ser560Gly Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Ser667Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Thr1093Pro Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Thr1423Met Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Thr2057Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Thr2504Met Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Thr4907Ile Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Thr854Ile Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Tyr1060Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Tyr1427Cys Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Tyr1655Cys Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Tyr1687Ser Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Tyr2743Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Tyr3184Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Tyr706Cys Uncertain significance Multiple submitters
Arrhythmogenic right ventricular dysplasia 2
RYR2 p.Val1488Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Val186Met Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Val214Leu Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Val214Met Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Val686Gly Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Val75Ile Uncertain significance Multiple submitters
cardiomyopathy
RYR2 p.Val873Met Uncertain significance Multiple submitters
Cardiovascular phenotype
RYR2 p.Ala1072Gly Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Ala1675Ser Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Ala2101Thr Uncertain significance Single submitter
cardiomyopathy
RYR2 p.Ala2345Glu Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Ala2458Gly Uncertain significance Single submitter
Cardiovascular phenotype
RYR2 p.Ala2458Val Conflicting Single submitter
RYR2-related disorder
RYR2 p.Ala2532Gly Uncertain significance Single submitter
RYR2 p.Ala2673Ser Uncertain significance Single submitter
cardiomyopathy
RYR2 p.Ala328Gly Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Ala38Ser Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Ala3909Ser Uncertain significance Single submitter
ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
RYR2 p.Ala3913Ser Uncertain significance Single submitter
cardiomyopathy
RYR2 p.Ala539Thr Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Arg1013Gln Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Arg1119His Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Arg122His Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Arg1614Cys Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Arg2082Lys Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
RYR2 p.Arg2144Cys Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Arg2144Leu Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Arg2258Cys Conflicting Single submitter
Arrhythmogenic right ventricular dysplasia 2
RYR2 p.Arg2258Gly Uncertain significance Single submitter
RYR2 p.Arg2359Gln Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Arg2772Cys Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia
RYR2 p.Arg414Cys Conflicting Single submitter
RYR2-related disorder
RYR2 p.Arg647Cys Conflicting Single submitter
Cardiovascular phenotype
RYR2 p.Asn1026Lys Uncertain significance Single submitter
RYR2 p.Asn1484Lys Uncertain significance Single submitter
hypertrophic cardiomyopathy

All RYR2 variants

Pathogenic 68

p.Arg176Gln Multiple submitters RYR2-related disorder
p.Arg2474Lys Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Arg420Trp Multiple submitters RYR2-related disorder
p.Arg4497Cys Multiple submitters Cardiovascular phenotype
p.Gly357Ser Multiple submitters Cardiovascular phenotype
p.Gly3946Ser Multiple submitters RYR2-related disorder
p.Gly4955Glu Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.His2217Tyr Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Leu433Pro Multiple submitters Cardiovascular phenotype
p.Pro2328Ser Multiple submitters RYR2-related disorder
p.Ser2246Leu Multiple submitters Cardiovascular phenotype
p.Ser3938Arg Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Ser4124Arg Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Val4653Phe Multiple submitters RYR2-related disorder
p.Val4771Ile Multiple submitters RYR2-related disorder ⚠
c.(168+1_169-1 Single submitter Cardiovascular phenotype
p.(? Single submitter catecholaminergic polymorphic ventricular tachycardia
p.Ala3943Asp Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Ala624Thr Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Arg190Gly Single submitter
p.Asn2386Ile Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Asn3864Asp Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Asn4104Lys Single submitter RYR2-related disorder
p.Asp2216His Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Asp2300Glu Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Asp2397Tyr Single submitter
p.Asp400Ala Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Asp400Asn Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Asp4646Ala Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Asp4745Gly Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Cys2201Tyr Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Gln2211Pro Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Glu189Asp Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Glu2296Lys Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Glu2311Asp Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Glu2405Lys Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Glu3987Gln Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Glu4076Lys Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Glu80Gly Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Gly172Arg Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Gly4671Asp Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Gly4825Arg Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Gly4864Cys Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Gly605Val Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.His2168Gln Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.His4108Tyr Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Ile2325Val Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Ile419Phe Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Ile4862Met Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Leu2426Arg Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Leu2527Trp Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Leu4966Pro Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Lys4674Glu Single submitter arrhythmogenic right ventricular cardiomyopathy
p.Met3999Leu Single submitter
p.Phe4600Leu Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Phe4612Leu Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Pro164Ser Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Pro2328Ala Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Pro4090Leu Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Ser4006Phe Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Thr4770Ile Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Val2171Ala Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Val2306Leu Single submitter
p.Val4880Ile Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.169-198_273+820del No assertion criteria catecholaminergic polymorphic ventricular tachycardia 1
p.Arg2474Ser No assertion criteria catecholaminergic polymorphic ventricular tachycardia 1
p.Ile3995Leu No assertion criteria ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
p.Val3551_Leu3552insGlnArgArgArgTer No assertion criteria catecholaminergic polymorphic ventricular tachycardia 1

Pathogenic/Likely pathogenic 30

p.Ala2387Thr Multiple submitters RYR2-related disorder
p.Ala2387Val Multiple submitters Cardiovascular phenotype
p.Ala4091Val Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Ala4510Pro Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Ala77Val Multiple submitters Cardiovascular phenotype
p.Arg169Gln Multiple submitters Cardiovascular phenotype
p.Arg169Leu Multiple submitters Cardiovascular phenotype
p.Arg176Leu Multiple submitters RYR2-related disorder
p.Arg2401His Multiple submitters Cardiovascular phenotype
p.Arg2401Leu Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Arg2474Gly Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Arg420Gln Multiple submitters RYR2-related disorder
p.Arg4959Gln Multiple submitters RYR2-related disorder
p.Asn3989Asp Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Asn4763Ser Multiple submitters cardiomyopathy
p.Asp3291Val Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Glu1724Lys Multiple submitters RYR2-related disorder
p.Glu2636Lys Multiple submitters Cardiovascular phenotype
p.Gly3946Asp Multiple submitters RYR2-related disorder
p.Ile4867Thr Multiple submitters catecholaminergic polymorphic ventricular tachycardia
p.Lys4751Gln Multiple submitters Cardiovascular phenotype
p.Lys4751Glu Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Met3978Ile Multiple submitters cardiomyopathy
p.Pro4902Ser Multiple submitters RYR2-related disorder
p.Tyr115Cys Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Tyr2392Cys Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Tyr4725Cys Multiple submitters RYR2-related disorder
p.Tyr4962Cys Multiple submitters Cardiovascular phenotype
p.Val2306Ile Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Val3875Ile Multiple submitters Cardiovascular phenotype

Likely pathogenic 133

p.Ala391Asp Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Ala4510Ser Multiple submitters Arrhythmogenic right ventricular dysplasia 2
p.Arg3734Cys Multiple submitters RYR2-related disorder
p.Asp2216Gly Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Glu2314Lys Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Leu4101Phe Multiple submitters Cardiovascular phenotype
p.Met3972Val Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Pro4090Ser Multiple submitters RYR2-related disorder
p.Ser616Leu Multiple submitters RYR2-related disorder
p.Trp4949Arg Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Val3875Leu Multiple submitters ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
p.Val4771Phe Multiple submitters Cardiovascular phenotype
c.1006-44_1007delinsATTTTG Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1143_1170+62del Single submitter
c.(1708+1_1709-1 Single submitter Cardiovascular phenotype
p.Ala165Asp Single submitter
p.Ala2317Glu Single submitter
p.Ala2467Val Single submitter Cardiovascular phenotype
p.Ala3794_Leu3796del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Ala4091Gly Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Ala4954Gly Single submitter Cardiovascular phenotype
p.Ala549Val Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Arg15Pro Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Arg169Gly Single submitter Cardiovascular phenotype
p.Arg176Gly Single submitter
p.Arg4608Leu Single submitter Cardiovascular phenotype
p.Arg4843Leu Single submitter Cardiovascular phenotype
p.Asn2250Ile Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Asn2291Lys Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Asn4895His Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Asp179Glu Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Asp2300His Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Asp3977Tyr Single submitter RYR2-related disorder
p.Asp4001Gly Single submitter
p.Asp400Gly Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Asp4646Glu Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Asp4716Gly Single submitter Cardiovascular phenotype
p.Asp4875His Single submitter
p.Cys3800Arg Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Cys47Arg Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Gln168Glu Single submitter
p.Gln208Ter Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Gln3230Arg Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Gln3230Lys Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Gln3774Arg Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Gln3861His Single submitter
p.Gln3932Glu Single submitter ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
p.Gln3955Glu Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Gln3955His Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Gln3955Lys Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Gln4766Pro Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Gln746His Single submitter childhood-onset schizophrenia
p.Gln746Ter Single submitter childhood-onset schizophrenia
p.Glu10Ter Single submitter
p.Glu171del Single submitter
p.Glu2138Lys Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Glu2329Asp Single submitter RYR2-related disorder
p.Glu243Ter Single submitter RYR2-related disorder
p.Glu2887fs Single submitter Arrhythmogenic right ventricular dysplasia 2
p.Glu336Gly Single submitter Cardiovascular phenotype
p.Glu3815Gly Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Glu3987Lys Single submitter
p.Glu4005Lys Single submitter RYR2-related disorder
p.Glu4950Gly Single submitter
p.Glu4950Lys Single submitter RYR2-related disorder
p.Gly172Glu Single submitter catecholaminergic polymorphic ventricular tachycardia
p.Gly2228Val Single submitter
p.Gly226Glu Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Gly2284Asp Single submitter ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
p.Gly2295Arg Single submitter
p.Gly2337Arg Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Gly2342Arg Single submitter Cardiovascular phenotype
p.Gly2628Glu Single submitter RYR2-related disorder
p.Gly264Arg Single submitter
p.Gly357Val Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Gly3894Trp Single submitter RYR2-related disorder
p.Gly3946Val Single submitter Cardiovascular phenotype
p.Gly4772Ser Single submitter cardiac rhythm disease
p.Gly4935Ala Single submitter
p.Gly605Arg Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.His4579Gln Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.His4742Gln Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.His4913Tyr Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Ile2419Ser Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Ile2419Thr Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Ile3283Asn Single submitter cardiac conduction defect
p.Ile3404fs Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Ile4862Thr Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Leu2200Phe Single submitter
p.Leu2229Ile Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Leu2229Pro Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Leu2280Pro Single submitter
p.Leu2487_Val2490del Single submitter cardiomyopathy
p.Leu3935Phe Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Leu4115Phe Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Leu4593Ser Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Leu4694del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Leu46fs Single submitter
p.Leu4720Phe Single submitter
p.Lys167Glu Single submitter
p.Lys3311fs Single submitter ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
p.Lys344fs Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Lys4751Met Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Met3999Thr Single submitter catecholaminergic polymorphic ventricular tachycardia 2
p.Met3999Val Single submitter
p.Met4002Ile Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Met4884delinsIlePro Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Met4923Ile Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Phe2215Leu Single submitter RYR2-related disorder
p.Phe4087Leu Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Phe4600Ile Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Pro2462Leu Single submitter
p.Pro3612Leu Single submitter ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
p.Pro4090Ala Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Ser285Ile Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Ser4006Thr Single submitter
p.Ser4583Tyr Single submitter
p.Thr2390Ile Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Thr3860Ile Single submitter catecholaminergic polymorphic ventricular tachycardia
p.Thr3866Lys Single submitter RYR2-related disorder
p.Thr3874Ile Single submitter
p.Thr415Ile Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Thr415Lys Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Thr4770Ala Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Tyr2298Cys Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Tyr2392Phe Single submitter catecholaminergic polymorphic ventricular tachycardia
p.Tyr356Asp Single submitter
p.Tyr4781His Single submitter
p.Val2306Phe Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Val2475Ala Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Val3875Ala Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Val4084Asp Single submitter RYR2-related disorder
p.Val4880Ala Single submitter catecholaminergic polymorphic ventricular tachycardia 1

Conflicting classifications of pathogenicity 643

Showing the top 300 by review status; the full set is in the sitemap.

c.1006-12C>T Single submitter catecholaminergic polymorphic ventricular tachycardia
c.10142+4T>C Single submitter Cardiovascular phenotype
c.10231-4T>C Single submitter Cardiovascular phenotype
c.10231-5C>T Single submitter Cardiovascular phenotype
c.10324-4A>G Single submitter Cardiovascular phenotype
c.10494+8_10494+9del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.10495-14A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.10495-16AT[2] Single submitter catecholaminergic polymorphic ventricular tachycardia
c.10555-5T>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.10725+4A>T Single submitter catecholaminergic polymorphic ventricular tachycardia
c.10838+3C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.10838+4G>A Single submitter Cardiovascular phenotype
c.11039+6G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.11040-14C>A Single submitter cardiomyopathy
c.11040-3C>T Single submitter catecholaminergic polymorphic ventricular tachycardia
c.11092-6A>T Single submitter cardiomyopathy
c.11146-15G>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.11146-6G>A Single submitter Arrhythmogenic right ventricular dysplasia 2
c.11146-8G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.11245+6G>A Single submitter cardiomyopathy
c.11246-11del Single submitter cardiomyopathy
c.11402+6G>A Single submitter catecholaminergic polymorphic ventricular tachycardia
c.11476+10A>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.11557+14C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.11557+15G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.11647-5C>T Single submitter catecholaminergic polymorphic ventricular tachycardia
c.11775+5A>G Single submitter catecholaminergic polymorphic ventricular tachycardia
c.11880+4AACT[4] Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.11962+9_11962+13dup Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.11963-11T>G Single submitter catecholaminergic polymorphic ventricular tachycardia
c.13261-4C>A Single submitter Cardiovascular phenotype
c.13261-9T>C Single submitter catecholaminergic polymorphic ventricular tachycardia
c.13329-10G>C Single submitter cardiomyopathy
c.13329-11T>G Single submitter catecholaminergic polymorphic ventricular tachycardia
c.13329-3T>C Single submitter cardiomyopathy
c.13476+8_13476+11dup Single submitter cardiomyopathy
c.13563+4C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.13783-4G>A Single submitter Cardiovascular phenotype
c.13957-5C>G Single submitter catecholaminergic polymorphic ventricular tachycardia
c.13957-7C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.14152-3T>C Single submitter Cardiovascular phenotype
c.14434-5T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.14591-9del Single submitter cardiomyopathy
c.14656-13C>A Single submitter catecholaminergic polymorphic ventricular tachycardia
c.14756+3G>A Single submitter Cardiovascular phenotype
c.14757-7_14757-6delinsAT Single submitter cardiomyopathy
c.1476+3C>T Single submitter Cardiovascular phenotype
c.1476+4C>T Single submitter Cardiovascular phenotype
c.14808+12A>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.14808+3A>G Single submitter Cardiovascular phenotype
c.1612+10A>G Single submitter Arrhythmogenic right ventricular dysplasia 2
c.1612+13A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1709-15T>A Single submitter catecholaminergic polymorphic ventricular tachycardia
c.1828-12T>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.2203+4C>T Single submitter cardiomyopathy
c.2203+5G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.2613+4C>G Single submitter Cardiovascular phenotype
c.2719-4T>A Single submitter Cardiovascular phenotype
c.274-3C>T Single submitter cardiomyopathy
c.274-5C>A Single submitter catecholaminergic polymorphic ventricular tachycardia
c.295-3C>T Single submitter catecholaminergic polymorphic ventricular tachycardia
c.295-6C>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.295-9C>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.3066+5A>G Single submitter Cardiovascular phenotype
c.3067-14G>C Single submitter catecholaminergic polymorphic ventricular tachycardia
c.309+5G>T Single submitter Cardiovascular phenotype
c.310-15del Single submitter catecholaminergic polymorphic ventricular tachycardia
c.310-5T>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.3423+6T>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.3424-4A>G Single submitter catecholaminergic polymorphic ventricular tachycardia
c.3598+13T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.4276-9T>C Single submitter cardiomyopathy
c.4596+6C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.4596+7G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.4597-4T>A Single submitter cardiomyopathy
c.463+14G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.463+6C>T Single submitter Cardiovascular phenotype
c.463+9C>T Single submitter cardiomyopathy
c.4684-11C>G Single submitter cardiomyopathy
c.4910+6C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.5716-5C>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.577-14G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.5916+9A>G Single submitter cardiomyopathy
c.6022+5G>A Single submitter Cardiovascular phenotype
c.6023-14T>G Single submitter catecholaminergic polymorphic ventricular tachycardia
c.6166+6C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.6167-3C>T Single submitter Cardiovascular phenotype
c.6556-11T>C Single submitter cardiomyopathy
c.6688+13C>A Single submitter Arrhythmogenic right ventricular dysplasia 2
c.6689-12T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.6689-5A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.677-3C>T Single submitter catecholaminergic polymorphic ventricular tachycardia
c.677-7C>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.6793-17_6793-10del Single submitter cardiomyopathy
c.6793-3C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.6793-4G>A Single submitter Cardiovascular phenotype
c.6793-4G>T Single submitter Cardiovascular phenotype
c.7222-15T>A Single submitter cardiomyopathy
c.7342+4A>T Single submitter Cardiovascular phenotype
c.7513-8T>G Single submitter catecholaminergic polymorphic ventricular tachycardia
c.773+4A>G Single submitter cardiomyopathy
c.7733+3G>A Single submitter cardiomyopathy
c.774-14G>T Single submitter catecholaminergic polymorphic ventricular tachycardia
c.8209-3A>G Single submitter Cardiovascular phenotype
c.8209-4T>C Single submitter Cardiovascular phenotype
c.8209-7_8209-4del Single submitter catecholaminergic polymorphic ventricular tachycardia
c.8437-3T>C Single submitter Cardiovascular phenotype
c.8437-5T>C Single submitter Cardiovascular phenotype
c.848+1G>A Single submitter Cardiovascular phenotype ⚠
c.848+8G>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.849-10T>C Single submitter Arrhythmogenic right ventricular dysplasia 2
c.8515-7A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.8590+6A>G Single submitter cardiomyopathy
c.8715-4C>G Single submitter Cardiovascular phenotype
c.8831-9A>C Single submitter catecholaminergic polymorphic ventricular tachycardia
c.8895+5A>G Single submitter Cardiovascular phenotype
c.8896-9T>C Single submitter catecholaminergic polymorphic ventricular tachycardia
c.9017+6C>T Single submitter cardiomyopathy
c.9018-6del Single submitter catecholaminergic polymorphic ventricular tachycardia
c.9067+10C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.9067+12C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.9068-3T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.9129-10T>A Single submitter catecholaminergic polymorphic ventricular tachycardia
c.9129-7T>C Single submitter catecholaminergic polymorphic ventricular tachycardia
c.9368-11T>C Single submitter catecholaminergic polymorphic ventricular tachycardia
c.9449+3A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.9450-3T>C Single submitter Cardiovascular phenotype
c.9581-8T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.-63G>T Single submitter Arrhythmogenic right ventricular dysplasia 2
c.*1108A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.*399A>G Single submitter Arrhythmogenic right ventricular dysplasia 2
c.*509A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.*711C>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Ala1075= Single submitter Cardiovascular phenotype
p.Ala1134Ser Single submitter Cardiovascular phenotype ⚠
p.Ala1542= Single submitter Cardiovascular phenotype
p.Ala1568= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Ala1717Ser Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ala1806Thr Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ala1873= Single submitter Cardiovascular phenotype
p.Ala205= Single submitter Cardiovascular phenotype
p.Ala2345= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Ala2354Thr Single submitter Cardiovascular phenotype
p.Ala2403Val Single submitter Cardiovascular phenotype ⚠
p.Ala2439Thr Single submitter cardiomyopathy
p.Ala2458Val Single submitter RYR2-related disorder ⚠
p.Ala2498Val Single submitter Cardiovascular phenotype
p.Ala2499Thr Single submitter Cardiovascular phenotype ⚠
p.Ala2542Ser Single submitter Cardiovascular phenotype
p.Ala2542Thr Single submitter catecholaminergic polymorphic ventricular tachycardia
p.Ala2603Gly Single submitter catecholaminergic polymorphic ventricular tachycardia
p.Ala2603Thr Single submitter Cardiovascular phenotype
p.Ala266= Single submitter Cardiovascular phenotype
p.Ala266Ser Single submitter catecholaminergic polymorphic ventricular tachycardia
p.Ala266Thr Single submitter Cardiovascular phenotype
p.Ala2673Val Single submitter cardiomyopathy ⚠
p.Ala2817Thr Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ala2817Val Single submitter Cardiovascular phenotype
p.Ala3064Thr Single submitter Cardiovascular phenotype
p.Ala328Thr Single submitter Arrhythmogenic right ventricular dysplasia 2
p.Ala3400= Single submitter Cardiovascular phenotype
p.Ala38Ser Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ala4091Arg Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Ala440Thr Single submitter Cardiovascular phenotype ⚠
p.Ala440Val Single submitter Cardiovascular phenotype ⚠
p.Ala4442= Single submitter cardiomyopathy
p.Ala4486Gly Single submitter catecholaminergic polymorphic ventricular tachycardia
p.Ala4510Thr Single submitter catecholaminergic polymorphic ventricular tachycardia ⚠
p.Ala4510Val Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ala4723Thr Single submitter Cardiovascular phenotype
p.Ala4740= Single submitter Cardiovascular phenotype
p.Ala538= Single submitter Cardiovascular phenotype
p.Ala763Thr Single submitter catecholaminergic polymorphic ventricular tachycardia ⚠
p.Ala979Ser Single submitter Cardiovascular phenotype
p.Arg1013Gln Single submitter Cardiovascular phenotype ⚠
p.Arg1041Gln Single submitter cardiomyopathy ⚠
p.Arg1051= Single submitter Cardiovascular phenotype
p.Arg1051Cys Single submitter ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome ⚠
p.Arg1051His Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Arg1084Lys Single submitter Cardiovascular phenotype
p.Arg1119His Single submitter Cardiovascular phenotype ⚠
p.Arg1133Cys Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Arg1133His Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Arg1144Gln Single submitter Cardiovascular phenotype
p.Arg1154His Single submitter cardiomyopathy
p.Arg122His Single submitter Cardiovascular phenotype ⚠
p.Arg1414Gln Single submitter Cardiovascular phenotype
p.Arg1461Gly Single submitter Cardiovascular phenotype ⚠
p.Arg1463Cys Single submitter catecholaminergic polymorphic ventricular tachycardia ⚠
p.Arg1463His Single submitter Cardiovascular phenotype
p.Arg1482Cys Single submitter Cardiovascular phenotype
p.Arg1482His Single submitter Cardiovascular phenotype
p.Arg1585His Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Arg1614Cys Single submitter catecholaminergic polymorphic ventricular tachycardia ⚠
p.Arg1637= Single submitter Cardiovascular phenotype
p.Arg1760Gln Single submitter catecholaminergic polymorphic ventricular tachycardia ⚠
p.Arg1760Trp Single submitter catecholaminergic polymorphic ventricular tachycardia
p.Arg1807Gln Single submitter catecholaminergic polymorphic ventricular tachycardia ⚠
p.Arg1888Gln Single submitter Cardiovascular phenotype ⚠
p.Arg1888Trp Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Arg1919Gln Single submitter Cardiovascular phenotype ⚠
p.Arg1921= Single submitter Cardiovascular phenotype
p.Arg1941Ser Single submitter catecholaminergic polymorphic ventricular tachycardia
p.Arg1993Cys Single submitter Cardiovascular phenotype
p.Arg2028Cys Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Arg2028His Single submitter catecholaminergic polymorphic ventricular tachycardia
p.Arg2068Ter Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Arg2144Cys Single submitter Cardiovascular phenotype ⚠
p.Arg2258Cys Single submitter Arrhythmogenic right ventricular dysplasia 2 ⚠
p.Arg2267His Single submitter catecholaminergic polymorphic ventricular tachycardia
p.Arg2359Gln Single submitter Cardiovascular phenotype ⚠
p.Arg2401Cys Single submitter Cardiovascular phenotype ⚠
p.Arg2420Thr Single submitter RYR2-related disorder ⚠
p.Arg2518Trp Single submitter Cardiovascular phenotype ⚠
p.Arg276= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Arg2772Cys Single submitter catecholaminergic polymorphic ventricular tachycardia ⚠
p.Arg2793Gln Single submitter Cardiovascular phenotype
p.Arg2803Gln Single submitter catecholaminergic polymorphic ventricular tachycardia
p.Arg2803Trp Single submitter Cardiovascular phenotype
p.Arg2806Cys Single submitter Cardiovascular phenotype
p.Arg2931Leu Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Arg2979His Single submitter Cardiovascular phenotype
p.Arg298Cys Single submitter Cardiovascular phenotype
p.Arg3227Cys Single submitter Cardiovascular phenotype
p.Arg3227His Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Arg3248His Single submitter Cardiovascular phenotype ⚠
p.Arg3260Gln Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Arg3260Trp Single submitter cardiomyopathy ⚠
p.Arg332Trp Single submitter RYR2-related disorder
p.Arg3345= Single submitter Cardiovascular phenotype
p.Arg3375= Single submitter catecholaminergic polymorphic ventricular tachycardia
p.Arg3397Cys Single submitter Cardiovascular phenotype
p.Arg3397His Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Arg3397Leu Single submitter Cardiovascular phenotype
p.Arg3472Trp Single submitter catecholaminergic polymorphic ventricular tachycardia
p.Arg3506Gln Single submitter catecholaminergic polymorphic ventricular tachycardia
p.Arg3510His Single submitter catecholaminergic polymorphic ventricular tachycardia
p.Arg3567Cys Single submitter Cardiovascular phenotype
p.Arg3567His Single submitter Cardiovascular phenotype ⚠
p.Arg3567Pro Single submitter cardiomyopathy ⚠
p.Arg3570Gln Single submitter cardiomyopathy ⚠
p.Arg3570Trp Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Arg414Cys Single submitter RYR2-related disorder ⚠
p.Arg414His Single submitter ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
p.Arg417Gly Single submitter Cardiovascular phenotype
p.Arg417Leu Single submitter Cardiovascular phenotype ⚠
p.Arg4573His Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Arg4608Gln Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Arg4608Trp Single submitter Cardiovascular phenotype ⚠
p.Arg4790Ter Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Arg4822His Single submitter RYR2-related disorder ⚠
p.Arg485Gln Single submitter Cardiovascular phenotype
p.Arg4959Trp Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Arg504His Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Arg520Gln Single submitter catecholaminergic polymorphic ventricular tachycardia
p.Arg647Cys Single submitter Cardiovascular phenotype ⚠
p.Arg801Leu Single submitter Cardiovascular phenotype
p.Arg838Gln Single submitter catecholaminergic polymorphic ventricular tachycardia
p.Arg838Gly Single submitter catecholaminergic polymorphic ventricular tachycardia
p.Arg929Cys Single submitter catecholaminergic polymorphic ventricular tachycardia ⚠
p.Asn1149Ser Single submitter Cardiovascular phenotype ⚠
p.Asn1501Lys Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Asn1523Ser Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Asn1551Ser Single submitter Cardiovascular phenotype ⚠
p.Asn1836Ser Single submitter Cardiovascular phenotype ⚠
p.Asn1978Ser Single submitter Cardiovascular phenotype ⚠
p.Asn2195Lys Single submitter Cardiovascular phenotype
p.Asn2365Ser Single submitter cardiomyopathy ⚠
p.Asn2386= Single submitter Cardiovascular phenotype
p.Asn2517Ser Single submitter catecholaminergic polymorphic ventricular tachycardia
p.Asn2722Asp Single submitter catecholaminergic polymorphic ventricular tachycardia
p.Asn2899Ser Single submitter catecholaminergic polymorphic ventricular tachycardia ⚠
p.Asn3095Ser Single submitter Cardiovascular phenotype ⚠
p.Asn3200Thr Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Asn3207Asp Single submitter Cardiovascular phenotype
p.Asn3257Ser Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Asn3274Asp Single submitter cardiomyopathy
p.Asn3989His Single submitter Cardiovascular phenotype ⚠
p.Asn4009= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Asn4111His Single submitter catecholaminergic polymorphic ventricular tachycardia ⚠
p.Asn4717= Single submitter catecholaminergic polymorphic ventricular tachycardia
p.Asn547Lys Single submitter Cardiovascular phenotype ⚠
p.Asn969= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Asp1199Asn Single submitter cardiomyopathy ⚠
p.Asp1220Glu Single submitter Cardiovascular phenotype
p.Asp17= Single submitter Cardiovascular phenotype
p.Asp1862= Single submitter catecholaminergic polymorphic ventricular tachycardia
p.Asp1872Asn Single submitter Arrhythmogenic right ventricular dysplasia 2 ⚠
p.Asp1931Glu Single submitter cardiomyopathy ⚠
p.Asp2300Gly Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Asp2735Glu Single submitter Cardiovascular phenotype
p.Asp358Gly Single submitter RYR2-related disorder ⚠
p.Asp3706= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Asp3706Asn Single submitter Cardiovascular phenotype
p.Asp3733Asn Single submitter Cardiovascular phenotype
p.Asp4001Asn Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Asp4112Asn Single submitter Cardiovascular phenotype ⚠
p.Asp446Asn Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Asp458Asn Single submitter Cardiovascular phenotype
p.Asp4745Asn Single submitter catecholaminergic polymorphic ventricular tachycardia ⚠

Benign 364

Showing the top 300 by review status; the full set is in the sitemap.

c.10143-18A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.10494+23C>T Multiple submitters
c.10935+18C>T Multiple submitters cardiac rhythm disease
c.11092-25T>C Multiple submitters
c.11246-66G>A Multiple submitters
c.11326-23C>T Multiple submitters cardiac rhythm disease
c.11402+91A>G Multiple submitters
c.11403-143C>A Multiple submitters
c.11557+19C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.11776-185T>G Multiple submitters
c.11880+13_11880+16del Multiple submitters Cardiovascular phenotype
c.11881-51C>T Multiple submitters
c.11963-11T>C Multiple submitters cardiac rhythm disease
c.13329-62A>G Multiple submitters
c.13476+47G>A Multiple submitters cardiac rhythm disease
c.13564-41A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.13782+55T>C Multiple submitters
c.13782+57T>C Multiple submitters
c.13782+59C>T Multiple submitters
c.13782+61T>C Multiple submitters
c.13782+78G>A Multiple submitters
c.13783-21G>A Multiple submitters cardiac rhythm disease
c.13783-6A>G Multiple submitters cardiac rhythm disease
c.13913+12A>C Multiple submitters cardiac rhythm disease
c.13914-122A>C Multiple submitters
c.14090+14C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.14091-113A>G Multiple submitters
c.14091-12_14091-11dup Multiple submitters cardiomyopathy
c.14091-121C>A Multiple submitters
c.14091-222A>G Multiple submitters
c.14091-25G>A Multiple submitters cardiac rhythm disease
c.14091-62G>T Multiple submitters
c.14151+201G>T Multiple submitters
c.14298+55A>G Multiple submitters
c.14434-66C>T Multiple submitters
c.14655+130G>A Multiple submitters
c.1477-114A>G Multiple submitters
c.14808+92G>A Multiple submitters
c.14809-20C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1612+14T>C Multiple submitters Cardiovascular phenotype
c.1709-275G>T Multiple submitters
c.2718+26A>G Multiple submitters cardiac rhythm disease
c.2719-132G>A Multiple submitters
c.274-100G>T Multiple submitters
c.274-128T>A Multiple submitters
c.2822+72G>A Multiple submitters
c.2906+111A>G Multiple submitters
c.2906+77C>A Multiple submitters
c.2907-87T>C Multiple submitters
c.310-71T>G Multiple submitters
c.3214+112G>A Multiple submitters
c.3215-93G>A Multiple submitters
c.3423+49A>G Multiple submitters cardiac rhythm disease
c.3423+94C>T Multiple submitters
c.3424-50G>A Multiple submitters
c.3598+54C>T Multiple submitters
c.4275+35C>T Multiple submitters
c.4275+50T>C Multiple submitters
c.4436+479G>A Multiple submitters
c.4436+91G>A Multiple submitters
c.4597-11del Multiple submitters Cardiovascular phenotype
c.4597-125G>A Multiple submitters
c.464-8A>C Multiple submitters cardiac rhythm disease
c.4683+59A>T Multiple submitters
c.4684-11C>T Multiple submitters cardiomyopathy
c.4684-5G>C Multiple submitters Cardiovascular phenotype
c.48+37G>A Multiple submitters
c.49-172C>T Multiple submitters
c.49-273C>T Multiple submitters
c.6022+81C>T Multiple submitters
c.6023-99T>C Multiple submitters
c.6440+20C>T Multiple submitters Cardiovascular phenotype
c.6441-124A>G Multiple submitters
c.6556-119G>C Multiple submitters
c.6556-28A>G Multiple submitters
c.6556-41G>A Multiple submitters cardiac rhythm disease
c.6688+72T>G Multiple submitters
c.6688+93C>A Multiple submitters
c.676+51G>A Multiple submitters
c.677-11T>A Multiple submitters Cardiovascular phenotype
c.6792+158G>A Multiple submitters
c.7342+16A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.7342+72G>A Multiple submitters
c.7513-51A>G Multiple submitters
c.7734-66T>C Multiple submitters
c.7824+97C>A Multiple submitters
c.7825-114T>C Multiple submitters
c.7965+70A>G Multiple submitters
c.7966-107C>G Multiple submitters
c.8130-135T>A Multiple submitters
c.8209-29A>C Multiple submitters
c.8436+85G>A Multiple submitters
c.8437-7dup Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.848+183G>T Multiple submitters
c.848+189G>C Multiple submitters
c.849-8T>C Multiple submitters Cardiovascular phenotype
c.8515-80C>A Multiple submitters
c.9128+111T>C Multiple submitters
c.9128+112A>G Multiple submitters
c.9368-75C>T Multiple submitters
c.9449+8T>A Multiple submitters cardiomyopathy
c.-200C>A Multiple submitters
c.-307C>T Multiple submitters
c.*1140A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.*129C>G Multiple submitters Arrhythmogenic right ventricular dysplasia 2
c.*1307C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.*328C>T Multiple submitters Arrhythmogenic right ventricular dysplasia 2
c.*56C>A Multiple submitters Arrhythmogenic right ventricular dysplasia 2
c.*714C>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Asp4807= Multiple submitters Cardiovascular phenotype
p.Gly592= Multiple submitters Cardiovascular phenotype
p.His2602= Multiple submitters cardiac rhythm disease
p.Leu537= Multiple submitters Cardiovascular phenotype
p.Lys1800= Multiple submitters Cardiovascular phenotype
p.Ser3592= Multiple submitters cardiac rhythm disease
p.Ser453= Multiple submitters Cardiovascular phenotype
c.1006-309del Single submitter
c.10143-54del Single submitter
c.10143-66del Single submitter
c.10323+280C>T Single submitter
c.10555-229_10555-228del Single submitter
c.10555-282C>A Single submitter
c.10555-335A>C Single submitter
c.10689+158A>C Single submitter
c.10689+177C>T Single submitter
c.10725+233C>A Single submitter
c.10726-296G>T Single submitter
c.10838+21dup Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.10936-127_10936-126insACACACCCAC Single submitter
c.10936-154AC[15] Single submitter
c.10936-154AC[17] Single submitter
c.10936-154AC[18] Single submitter
c.10936-154AC[19] Single submitter
c.10936-154AC[20] Single submitter
c.10936-5dup Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.11040-269G>A Single submitter
c.11092-13_11092-11dup Single submitter
c.11092-175T>G Single submitter
c.11092-254G>A Single submitter
c.11092-26dup Single submitter
c.11146-170A>C Single submitter
c.11146-170del Single submitter
c.11146-171_11146-170del Single submitter
c.11146-204A>G Single submitter
c.11146-232_11146-231dup Single submitter
c.11245+21del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.11403-140_11403-124dup Single submitter
c.11403-16dup Single submitter
c.11403-211T>C Single submitter
c.11403-266G>A Single submitter
c.11477-204G>A Single submitter
c.11558-12dup Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1170+265T>C Single submitter
c.1171-266C>T Single submitter
c.11776-18T>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.11776-257dup Single submitter
c.11776-258_11776-257dup Single submitter
c.11880+13del Single submitter
c.11881-254A>G Single submitter
c.1292+20C>A Single submitter
c.1293-266T>C Single submitter
c.1293-272T>A Single submitter
c.1293-292A>C Single submitter
c.13261-218G>C Single submitter
c.13261-249_13261-248insG Single submitter
c.13328+120T>C Single submitter
c.13329-28C>T Single submitter
c.13477-184G>C Single submitter
c.13782+261G>A Single submitter
c.13782+27TG[11] Single submitter
c.13782+27TG[12] Single submitter
c.13782+27TG[13] Single submitter
c.13782+27TG[14] Single submitter
c.13782+27TG[15] Single submitter
c.13782+50_13782+51insCGCGCGTGTG Single submitter
c.13782+52_13782+53insCGCGCG Single submitter
c.13782+60GT[2] Single submitter
c.13782+60GT[9] Single submitter
c.13782+75_13782+100del Single submitter
c.13782+75_13782+76del Single submitter
c.13913+330_13913+331insGG Single submitter
c.13914-308C>T Single submitter
c.13956+131dup Single submitter
c.13956+296_13956+299dup Single submitter
c.14090+106ATAG[3] Single submitter
c.14090+217T>C Single submitter
c.14090+245_14090+246insTTAT Single submitter
c.14090+270T>C Single submitter
c.14090+271G>A Single submitter
c.14090+319T>C Single submitter
c.14091-299del Single submitter
c.14152-11del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.14152-16dup Single submitter
c.14152-273G>C Single submitter
c.14298+159A>T Single submitter
c.14299-233del Single submitter
c.14299-233dup Single submitter
c.14299-234_14299-233del Single submitter
c.14590+171G>A Single submitter
c.14590+283C>T Single submitter
c.14655+119del Single submitter
c.1476+160G>A Single submitter
c.1476+18C>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1477-12_1477-11del Single submitter
c.1477-13_1477-11del Single submitter
c.1477-13_1477-11dup Single submitter
c.1477-247A>G Single submitter
c.1477-257T>C Single submitter
c.14808+225C>A Single submitter
c.14808+300_14808+301insATTG Single submitter
c.14809-181A>G Single submitter
c.1613-107_1613-106insT Single submitter
c.168+265G>A Single submitter
c.168+335A>T Single submitter
c.169-324C>A Single submitter
c.1708+109GTG[4] Single submitter
c.1708+183C>T Single submitter
c.1708+91_1708+92dup Single submitter
c.1708+92del Single submitter
c.1708+92dup Single submitter
c.1828-129_1828-128insGGA Single submitter
c.1828-129_1828-128insGGAAGGA Single submitter
c.1828-129_1828-128insGGAAGGAAGGAAGGA Single submitter
c.1828-129AAGG[12] Single submitter
c.1828-130_1828-127del Single submitter
c.1828-130A>G Single submitter
c.1828-131dup Single submitter
c.1828-236A>C Single submitter
c.1828-49G>T Single submitter
c.1962-204C>T Single submitter
c.1962-242G>A Single submitter
c.1962-282T>C Single submitter
c.2204-12del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.2204-254G>A Single submitter
c.2396+286del Single submitter
c.2396+286dup Single submitter
c.2397-296C>G Single submitter
c.2614-152dup Single submitter
c.2614-346C>T Single submitter
c.2822+164T>C Single submitter
c.2822+59_2822+60insG Single submitter
c.2822+59_2822+68del Single submitter
c.2822+60_2822+68del Single submitter
c.2822+68del Single submitter
c.2822+68dup Single submitter
c.2823-102dup Single submitter
c.2823-248C>T Single submitter
c.2823-256T>C Single submitter
c.2823-299G>A Single submitter
c.2906+229G>A Single submitter
c.2907-172T>G Single submitter
c.2907-274A>G Single submitter
c.294+329dup Single submitter
c.309+185G>A Single submitter
c.3423+142C>T Single submitter
c.3424-113C>T Single submitter
c.3424-212G>A Single submitter
c.3424-226T>A Single submitter
c.3599-10_3599-9del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.3599-225T>C Single submitter
c.3599-227C>T Single submitter
c.384+245_384+246del Single submitter
c.4160+168TCCCCCTTCTCCTCC[2] Single submitter
c.4160+168TCCCCCTTCTCCTCC[3] Single submitter
c.4160+313G>A Single submitter
c.4161-189A>G Single submitter
c.4275+195T>C Single submitter
c.4275+249T>G Single submitter
c.4436+21dup Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.4597-247G>A Single submitter
c.4683+241dup Single submitter
c.4683+246G>A Single submitter
c.4683+264G>C Single submitter
c.4683+265C>T Single submitter
c.4910+326C>T Single submitter
c.4911-136G>A Single submitter
c.5716-57T>C Single submitter
c.577-214C>A Single submitter
c.577-258A>C Single submitter
c.5917-320G>T Single submitter
c.6022+13del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.6022+27dup Single submitter
c.6023-117T>C Single submitter
c.6023-135C>G Single submitter
c.6023-175G>A Single submitter
c.6023-8dup Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.6166+203A>G Single submitter
c.6166+213A>G Single submitter
c.6167-294A>G Single submitter
c.6440+294C>T Single submitter
c.6555+146_6555+147insAAG Single submitter
c.6555+149_6555+150del Single submitter
c.6555+242T>A Single submitter
c.6555+277C>T Single submitter
c.6555+309G>C Single submitter
c.6555+325G>A Single submitter
c.6555+338T>C Single submitter
c.6689-144dup Single submitter
c.6689-192A>G Single submitter
c.6689-216C>T Single submitter

Benign/Likely benign 185

c.1005+13A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.10143-19T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.10230+20T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.10495-10T>C Multiple submitters cardiomyopathy
c.10554+16T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.10555-7dup Multiple submitters cardiomyopathy
c.10935+17_10935+18delinsTT Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.10935+17G>T Multiple submitters
c.11092-10A>T Multiple submitters Arrhythmogenic right ventricular dysplasia 2
c.11092-11del Multiple submitters
c.11092-11dup Multiple submitters cardiomyopathy
c.11326-4A>G Multiple submitters Cardiovascular phenotype
c.11402+7_11402+9del Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.11476+15C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.11646+18T>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1170+19dup Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1171-14T>G Multiple submitters cardiomyopathy
c.11880+16G>A Multiple submitters Cardiovascular phenotype
c.1292+19G>A Multiple submitters Arrhythmogenic right ventricular dysplasia 2
c.1292+20C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.13261-18C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.13476+16A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.13477-5C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.13782+20A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.14091-11dup Multiple submitters cardiomyopathy
c.14152-16C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.14152-17C>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.14299-12A>G Multiple submitters cardiomyopathy
c.14434-14T>A Multiple submitters cardiomyopathy
c.14655+22T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.14756+12C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.14757-19A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.14757-6C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.14757-7T>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.1477-11del Multiple submitters cardiac rhythm disease
c.1477-11dup Multiple submitters cardiomyopathy
c.1477-12_1477-11dup Multiple submitters
c.14808+17A>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.14809-15C>G Multiple submitters cardiomyopathy
c.1962-13C>T Multiple submitters cardiomyopathy
c.2204-16G>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.2204-7C>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.2396+10T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.2396+17T>G Multiple submitters Arrhythmogenic right ventricular dysplasia 2
c.2397-16C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.2397-6C>T Multiple submitters cardiomyopathy
c.2613+16C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.2613+5_2613+6insTTGC Multiple submitters Cardiovascular phenotype
c.273+18G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.2907-19C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.294+15G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.3067-15T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.3067-16_3067-15del Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.309+7C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.3599-9del Multiple submitters Cardiovascular phenotype
c.3599-9dup Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.385-14T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.385-9A>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.385-9A>G Multiple submitters cardiomyopathy
c.4596+12G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.463+6dup Multiple submitters cardiomyopathy
c.463+7A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.4911-19A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.576+7G>C Multiple submitters Cardiovascular phenotype
c.5917-12T>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.6166+8G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.6441-19C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.6555+6G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.6555+8C>G Multiple submitters cardiomyopathy
c.6555+8C>T Multiple submitters Cardiovascular phenotype
c.6792+50G>A Multiple submitters
c.6928+4G>A Multiple submitters Cardiovascular phenotype
c.7222-12del Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.7222-12dup Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.7222-12T>C Multiple submitters cardiomyopathy
c.7343-9C>T Multiple submitters ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
c.7824+20G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.8208+15A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.8209-13G>C Multiple submitters cardiomyopathy
c.8209-4del Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.8591-8A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.8715-30G>A Multiple submitters
c.8830+19T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.9129-20C>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.9449+16G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.9580+9G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.*130G>A Multiple submitters Arrhythmogenic right ventricular dysplasia 2
c.*55T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.*647C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.*787C>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Ala1008= Multiple submitters cardiomyopathy
p.Ala1136Val Multiple submitters Cardiovascular phenotype
p.Ala1240= Multiple submitters Cardiovascular phenotype
p.Ala2346= Multiple submitters cardiomyopathy
p.Ala2354= Multiple submitters Cardiovascular phenotype
p.Ala2387= Multiple submitters Cardiovascular phenotype
p.Ala2411= Multiple submitters catecholaminergic polymorphic ventricular tachycardia
p.Ala2536= Multiple submitters Cardiovascular phenotype
p.Ala3222= Multiple submitters Cardiovascular phenotype
p.Ala77= Multiple submitters Cardiovascular phenotype
p.Arg1718= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Arg2359= Multiple submitters Cardiovascular phenotype
p.Arg3084= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Asn1169= Multiple submitters Cardiovascular phenotype
p.Asn1945= Multiple submitters Cardiovascular phenotype
p.Asn198= Multiple submitters Cardiovascular phenotype
p.Asn3308Ser Multiple submitters Cardiovascular phenotype
p.Asn3418= Multiple submitters Cardiovascular phenotype
p.Asp1010= Multiple submitters Arrhythmogenic right ventricular dysplasia 2
p.Asp1449= Multiple submitters Cardiovascular phenotype
p.Asp1871= Multiple submitters Cardiovascular phenotype
p.Asp242= Multiple submitters Cardiovascular phenotype
p.Asp2455= Multiple submitters Cardiovascular phenotype
p.Asp2816= Multiple submitters Cardiovascular phenotype
p.Asp378= Multiple submitters Cardiovascular phenotype
p.Asp3832= Multiple submitters Cardiovascular phenotype
p.Gln1554= Multiple submitters cardiomyopathy
p.Gln2958Arg Multiple submitters Cardiovascular phenotype
p.Gln4911= Multiple submitters Cardiovascular phenotype
p.Glu3271= Multiple submitters cardiomyopathy
p.Glu3709= Multiple submitters catecholaminergic polymorphic ventricular tachycardia
p.Glu4431= Multiple submitters catecholaminergic polymorphic ventricular tachycardia
p.Glu4659= Multiple submitters Cardiovascular phenotype
p.Gly116= Multiple submitters Cardiovascular phenotype
p.Gly1179= Multiple submitters Cardiovascular phenotype
p.Gly1879= Multiple submitters Cardiovascular phenotype
p.Gly1885Glu Multiple submitters cardiomyopathy
p.Gly1886Ala Multiple submitters Cardiovascular phenotype
p.Gly1886Ser Multiple submitters Cardiovascular phenotype
p.Gly2361= Multiple submitters cardiomyopathy
p.Gly3289= Multiple submitters cardiomyopathy
p.Gly3484= Multiple submitters Cardiovascular phenotype
p.Gly3996= Multiple submitters Cardiovascular phenotype
p.Gly432= Multiple submitters Cardiovascular phenotype
p.Gly4658= Multiple submitters ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
p.His1587= Multiple submitters Cardiovascular phenotype
p.His3937= Multiple submitters Cardiovascular phenotype
p.His4552= Multiple submitters Cardiovascular phenotype
p.His506= Multiple submitters Cardiovascular phenotype
p.His621= Multiple submitters catecholaminergic polymorphic ventricular tachycardia
p.Ile2789= Multiple submitters Cardiovascular phenotype
p.Ile4701Val Multiple submitters Cardiovascular phenotype
p.Ile4827= Multiple submitters Arrhythmogenic right ventricular dysplasia 2
p.Ile881= Multiple submitters catecholaminergic polymorphic ventricular tachycardia
p.Leu1667= Multiple submitters Cardiovascular phenotype
p.Leu2496= Multiple submitters cardiomyopathy
p.Leu3385= Multiple submitters Cardiovascular phenotype
p.Leu370= Multiple submitters cardiomyopathy
p.Leu3878= Multiple submitters catecholaminergic polymorphic ventricular tachycardia
p.Lys2563= Multiple submitters cardiomyopathy
p.Lys3187Arg Multiple submitters Cardiovascular phenotype
p.Met3461Val Multiple submitters Cardiovascular phenotype
p.Pro1124= Multiple submitters Cardiovascular phenotype
p.Pro1496= Multiple submitters cardiomyopathy
p.Pro1535= Multiple submitters cardiomyopathy
p.Pro1565= Multiple submitters Cardiovascular phenotype
p.Pro1580= Multiple submitters Cardiovascular phenotype
p.Pro2462= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Ser134= Multiple submitters Cardiovascular phenotype
p.Ser1400Gly Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Ser1712= Multiple submitters Cardiovascular phenotype
p.Ser3224= Multiple submitters Cardiovascular phenotype
p.Ser3407= Multiple submitters Cardiovascular phenotype
p.Ser359= Multiple submitters Cardiovascular phenotype
p.Ser381= Multiple submitters Cardiovascular phenotype
p.Ser451= Multiple submitters catecholaminergic polymorphic ventricular tachycardia
p.Ser4565= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Thr3173= Multiple submitters Cardiovascular phenotype
p.Thr351= Multiple submitters Cardiovascular phenotype
p.Thr4580= Multiple submitters Cardiovascular phenotype
p.Thr4886= Multiple submitters catecholaminergic polymorphic ventricular tachycardia
p.Thr682= Multiple submitters Cardiovascular phenotype
p.Thr863= Multiple submitters Cardiovascular phenotype
p.Tyr115= Multiple submitters Cardiovascular phenotype
p.Tyr125= Multiple submitters Cardiovascular phenotype
p.Tyr2956= Multiple submitters catecholaminergic polymorphic ventricular tachycardia
p.Tyr4661= Multiple submitters Cardiovascular phenotype
p.Val1918= Multiple submitters Cardiovascular phenotype
p.Val3945= Multiple submitters Cardiovascular phenotype
p.Val4522= Multiple submitters Cardiovascular phenotype
p.Val507Ile Multiple submitters Cardiovascular phenotype
c.*218T>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.*980T>C Single submitter Arrhythmogenic right ventricular dysplasia 2
c.464-8A>T No assertion criteria
p.Phe4739fs No assertion criteria

Likely benign 3068

Showing the top 300 by review status; the full set is in the sitemap.

c.1005+7C>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1005+7C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1006-15C>T Multiple submitters cardiomyopathy
c.1006-6C>T Multiple submitters cardiomyopathy
c.10142+73A>G Multiple submitters
c.10143-11A>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.10143-144A>T Multiple submitters
c.10143-15_10143-12del Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.10230+15A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.10230+9_10230+15del Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.10231-11C>T Multiple submitters cardiomyopathy
c.10323+19T>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.10324-11_10324-10del Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.10324-12T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.10324-13C>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.10324-13C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.10324-14T>C Multiple submitters cardiomyopathy
c.10324-5C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.10324-9G>A Multiple submitters cardiomyopathy
c.10494+13T>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.10495-12A>G Multiple submitters cardiomyopathy
c.10495-9T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.10555-10T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.10555-68A>G Multiple submitters
c.10555-9T>C Multiple submitters cardiomyopathy
c.10690-301C>A Multiple submitters
c.10690-4T>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.10726-33G>A Multiple submitters
c.10839-8C>T Multiple submitters cardiomyopathy
c.10839-93A>G Multiple submitters
c.10936-108G>A Multiple submitters
c.10936-13G>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.10936-14T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.10936-15T>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.11039+13G>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.11039+144G>C Multiple submitters
c.11040-127G>A Multiple submitters
c.11040-6C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.11040-8T>C Multiple submitters cardiomyopathy
c.11091+16dup Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.11092-11T>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.11092-4A>G Multiple submitters cardiomyopathy
c.11092-5T>C Multiple submitters cardiomyopathy
c.11145+18G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.11245+9C>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.11403-11T>C Multiple submitters cardiomyopathy
c.11403-16T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.11476+9G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.11477-14T>C Multiple submitters cardiomyopathy
c.11558-15T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.11647-18A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.11647-7T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.1170+10T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1171-11C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1171-188T>C Multiple submitters
c.1171-18A>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.11776-13G>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.11776-21G>A Multiple submitters
c.11776-6C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.11880+4AACT[2] Multiple submitters cardiomyopathy
c.11881-19G>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.11962+10A>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.11962+17C>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.11963-4C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.11963-9T>C Multiple submitters cardiomyopathy
c.1293-14A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.1293-14A>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1293-15T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1293-18G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1293-6T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1293-7A>G Multiple submitters cardiomyopathy
c.13261-11A>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.13261-6T>C Multiple submitters cardiomyopathy
c.13329-4A>G Multiple submitters cardiomyopathy
c.13329-4A>T Multiple submitters Cardiovascular phenotype
c.13477-18_13477-16del Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.13477-18A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.13477-9C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.13563+68C>T Multiple submitters
c.13564-12G>A Multiple submitters cardiomyopathy
c.13564-232C>T Multiple submitters
c.13564-7G>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.13782+10_13782+13del Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.13782+53T>C Multiple submitters
c.13782+67T>C Multiple submitters
c.13783-5T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.13783-6A>T Multiple submitters cardiomyopathy
c.13783-7_13783-6delinsCG Multiple submitters cardiomyopathy
c.13783-9C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.13913+17A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.13913+19G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.13914-11G>C Multiple submitters cardiomyopathy
c.13914-11G>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.13914-8T>C Multiple submitters cardiomyopathy
c.13956+13G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.14090+16G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.14091-11del Multiple submitters
c.14091-4G>A Multiple submitters cardiomyopathy
c.14151+8T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.14152-15G>A Multiple submitters cardiomyopathy
c.14152-16C>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.14298+20C>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.14299-49T>C Multiple submitters
c.14433+10T>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.14434-15A>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.14434-15A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.14434-15A>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.14434-5dup Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.14590+7A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.14591-4C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.14591-5A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.14656-105G>A Multiple submitters
c.14656-4C>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.14757-10G>A Multiple submitters cardiomyopathy
c.14757-14C>A Multiple submitters cardiomyopathy
c.14757-8A>G Multiple submitters cardiomyopathy
c.1477-17_1477-16insC Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1477-7G>A Multiple submitters cardiomyopathy
c.1477-7G>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1477-8C>T Multiple submitters cardiomyopathy
c.14809-10A>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.14809-14C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1612+13_1612+14delinsGC Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1613-12C>A Multiple submitters cardiomyopathy
c.1613-9C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.169-126G>A Multiple submitters
c.1709-13G>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1709-17_1709-14del Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1709-4T>C Multiple submitters cardiomyopathy
c.1827+43T>C Multiple submitters
c.1828-10C>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.1962-12G>A Multiple submitters cardiomyopathy
c.1962-12G>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.1962-7T>C Multiple submitters cardiomyopathy
c.2203+13C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.2204-14T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.2204-14T>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.2204-15T>C Multiple submitters cardiomyopathy
c.2396+12T>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.2397-11A>G Multiple submitters cardiomyopathy
c.2397-12C>T Multiple submitters cardiomyopathy
c.2397-15G>A Multiple submitters cardiomyopathy
c.2613+8G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.2614-11G>C Multiple submitters cardiomyopathy
c.2614-12T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.2718+159G>A Multiple submitters
c.2718+19T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.2718+246G>C Multiple submitters
c.2719-10C>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.2719-14C>G Multiple submitters cardiomyopathy
c.273+12A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.273+9C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.274-5C>G Multiple submitters cardiomyopathy
c.2823-19C>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.2823-4C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.2907-4G>A Multiple submitters cardiomyopathy
c.295-107A>G Multiple submitters
c.295-43G>A Multiple submitters
c.295-8C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.309+16A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.309+9_309+13del Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.3214+7T>G Multiple submitters ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
c.3214+80G>T Multiple submitters
c.3215-9A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.3423+10C>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.3598+10_3598+12del Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.3598+10C>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.3598+16T>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.384+19T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.385-8C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.4160+10T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.4161-76A>G Multiple submitters
c.4275+8G>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.4276-10A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.4276-13G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.4276-18G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.4596+10C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.463+10T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.463+18C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.464-10A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.464-12G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.464-12G>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.464-13C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.464-9_464-8delinsCC Multiple submitters cardiomyopathy
c.4683+9A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.4684-14T>C Multiple submitters cardiomyopathy
c.4684-15C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.4684-4C>T Multiple submitters cardiomyopathy
c.4684-5G>A Multiple submitters cardiomyopathy
c.4684-5G>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.4684-6C>T Multiple submitters cardiomyopathy
c.49-10C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.49-156C>T Multiple submitters
c.49-20C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.49-4G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.49-8C>T Multiple submitters cardiomyopathy
c.49-9C>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.4911-10C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.4911-14C>T Multiple submitters cardiomyopathy
c.4911-4A>G Multiple submitters cardiomyopathy
c.5716-6T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.577-5T>C Multiple submitters cardiomyopathy
c.5917-12T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.5917-81G>A Multiple submitters
c.6022+14G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.6023-7A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.6023-8T>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.6166+10A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.6167-15A>G Multiple submitters cardiomyopathy
c.6167-4G>A Multiple submitters cardiomyopathy
c.6167-7T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.6441-15C>T Multiple submitters cardiomyopathy
c.6441-16_6441-13dup Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.6441-18G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.6441-8C>G Multiple submitters cardiomyopathy
c.6441-9C>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.6441-9C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.6556-15A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.6556-16C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.6556-9T>C Multiple submitters cardiomyopathy
c.6689-15C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.6689-37G>A Multiple submitters
c.677-11T>C Multiple submitters cardiomyopathy
c.677-13T>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.6792+122G>A Multiple submitters
c.6793-11G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.6793-12T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.6793-17_6793-16dup Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.6929-15C>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.6929-8T>G Multiple submitters cardiomyopathy
c.7115+13T>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.7115+19C>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.7116-11A>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.7116-12C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.7116-15A>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.7222-11C>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.7222-11C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.7222-12T>G Multiple submitters cardiomyopathy
c.7222-4A>G Multiple submitters Cardiovascular phenotype
c.7342+42G>A Multiple submitters
c.7343-13T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.7343-9C>G Multiple submitters cardiomyopathy
c.7513-13G>A Multiple submitters cardiomyopathy
c.7513-18T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.7513-4T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.773+141C>T Multiple submitters
c.773+18T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.7733+12A>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.7734-5A>G Multiple submitters cardiomyopathy
c.7824+46G>C Multiple submitters
c.7825-121T>A Multiple submitters
c.7825-5C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.7966-11A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.7966-15C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.8129+20C>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.8130-12C>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.8130-5C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.8209-12C>A Multiple submitters cardiomyopathy
c.8209-12C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.8209-9T>C Multiple submitters cardiomyopathy
c.8298+18_8298+21del Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.8436+15C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.8436+9T>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.8437-7G>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.8437-8T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.848+18A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.849-12del Multiple submitters cardiomyopathy
c.849-13C>T Multiple submitters cardiomyopathy
c.8590+124G>A Multiple submitters
c.8590+19G>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.8591-11C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.8591-13G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.8591-6T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.8714+13A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.8714+20A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.8715-7C>G Multiple submitters cardiomyopathy
c.8830+17C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.8831-4A>G Multiple submitters cardiomyopathy
c.8895+17A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.8896-14T>C Multiple submitters cardiomyopathy
c.9017+91G>A Multiple submitters
c.9018-11T>C Multiple submitters cardiomyopathy
c.9067+9A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.9129-7T>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.9129-9A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.9368-12C>T Multiple submitters cardiomyopathy
c.9450-15A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.9450-17G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.9450-9C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.9580+19C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.9581-46C>T Multiple submitters
c.9902-14C>T Multiple submitters cardiomyopathy
c.9902-7T>C Multiple submitters cardiomyopathy
c.-420G>C Multiple submitters
c.*1160A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Ala1090= Multiple submitters Cardiovascular phenotype
p.Ala1098= Multiple submitters Cardiovascular phenotype
p.Ala1134= Multiple submitters catecholaminergic polymorphic ventricular tachycardia
p.Ala1136= Multiple submitters cardiomyopathy
p.Ala1403= Multiple submitters Cardiovascular phenotype

Uncertain significance 4564

Showing the top 300 by review status; the full set is in the sitemap.

c.10142+3A>G Multiple submitters Cardiovascular phenotype
c.10231-13del Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.10324-3T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.10494+1G>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.10554+6C>A Multiple submitters cardiomyopathy
c.10555-3C>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.10555-3C>T Multiple submitters Cardiovascular phenotype
c.10936-2A>G Multiple submitters cardiomyopathy
c.11039+4del Multiple submitters cardiomyopathy
c.11092-3C>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.11145+5G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.11402+4A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.11557+3T>C Multiple submitters Cardiovascular phenotype
c.11558-10T>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.11558-13T>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.11646+1G>T Multiple submitters cardiomyopathy
c.11646+3A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.11775+6C>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.11880+3_11880+6del Multiple submitters Cardiovascular phenotype
c.11962+2T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.13328+3A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.13328+4T>C Multiple submitters Cardiovascular phenotype
c.13476+6A>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.13913+3G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.14090+3_14090+6dup Multiple submitters Cardiovascular phenotype
c.14091-5T>G Multiple submitters cardiomyopathy
c.14151+1G>A Multiple submitters Cardiovascular phenotype
c.14151+4A>G Multiple submitters cardiomyopathy
c.14151+6C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.14299-3C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.14590+5G>A Multiple submitters cardiomyopathy
c.1476+5G>A Multiple submitters Cardiovascular phenotype
c.1612+6A>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.168+4G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.2203+3_2203+4dup Multiple submitters Cardiovascular phenotype
c.2204-4A>G Multiple submitters
c.2396+3_2396+12del Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.2718+3A>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.2906+6T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.2907-1G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.294+3A>G Multiple submitters Cardiovascular phenotype
c.309+1G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.3215-14T>G Multiple submitters cardiomyopathy
c.3423+2T>C Multiple submitters Cardiovascular phenotype
c.3599-3C>A Multiple submitters Cardiovascular phenotype
c.3599-3C>T Multiple submitters Cardiovascular phenotype
c.4161-5T>C Multiple submitters Cardiovascular phenotype
c.4596+4C>T Multiple submitters Cardiovascular phenotype
c.4596+5G>A Multiple submitters Cardiovascular phenotype
c.4684-1G>A Multiple submitters cardiomyopathy
c.4684-7C>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.48+6C>A Multiple submitters cardiomyopathy
c.4910+3C>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.6440+6T>C Multiple submitters cardiomyopathy
c.6441-12T>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.6555+5C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.6688+3A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.6689-3T>A Multiple submitters Cardiovascular phenotype
c.676+3A>G Multiple submitters cardiomyopathy
c.6792+5G>A Multiple submitters cardiomyopathy
c.7221+5G>T Multiple submitters cardiomyopathy
c.7343-2A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.7512+3G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.774-4A>G Multiple submitters cardiomyopathy
c.8129+4T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.8298+5G>A Multiple submitters cardiomyopathy
c.848+1G>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.848+2dup Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.8515-5T>G Multiple submitters Cardiovascular phenotype
c.8590+4A>G Multiple submitters ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
c.8596_8598del Multiple submitters Cardiovascular phenotype
c.8715-2A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.8830+4G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.9017+1G>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.9017+5A>G Multiple submitters Cardiovascular phenotype
c.9128+5del Multiple submitters Cardiovascular phenotype
c.9367+3A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.9367+4T>C Multiple submitters Cardiovascular phenotype
c.9449+6A>G Multiple submitters cardiomyopathy
c.9580+6A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.-15A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.*142C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.*717G>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.*723G>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Ala1000Ser Multiple submitters cardiomyopathy ⚠
p.Ala1000Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala1008Glu Multiple submitters cardiomyopathy ⚠
p.Ala1008Val Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ala1073Thr Multiple submitters catecholaminergic polymorphic ventricular tachycardia ⚠
p.Ala1073Val Multiple submitters cardiomyopathy
p.Ala1098Ser Multiple submitters cardiomyopathy ⚠
p.Ala1098Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala1134Asp Multiple submitters cardiomyopathy
p.Ala1134Gly Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Ala1142Val Multiple submitters cardiomyopathy ⚠
p.Ala1191Val Multiple submitters catecholaminergic polymorphic ventricular tachycardia
p.Ala1513Val Multiple submitters catecholaminergic polymorphic ventricular tachycardia ⚠
p.Ala1542Val Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ala1568Thr Multiple submitters Cardiovascular phenotype
p.Ala1568Val Multiple submitters catecholaminergic polymorphic ventricular tachycardia ⚠
p.Ala157Ser Multiple submitters catecholaminergic polymorphic ventricular tachycardia ⚠
p.Ala1806Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala1873Thr Multiple submitters cardiomyopathy ⚠
p.Ala1924Gly Multiple submitters Cardiovascular phenotype
p.Ala1934Val Multiple submitters catecholaminergic polymorphic ventricular tachycardia ⚠
p.Ala1959Thr Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Ala206Thr Multiple submitters catecholaminergic polymorphic ventricular tachycardia
p.Ala2083Thr Multiple submitters catecholaminergic polymorphic ventricular tachycardia ⚠
p.Ala215Gly Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Ala215Thr Multiple submitters Cardiovascular phenotype
p.Ala2213Ser Multiple submitters Cardiovascular phenotype
p.Ala2233Thr Multiple submitters Cardiovascular phenotype
p.Ala2317Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala2334Thr Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ala2354Ser Multiple submitters catecholaminergic polymorphic ventricular tachycardia
p.Ala2411Gly Multiple submitters cardiomyopathy
p.Ala2439Gly Multiple submitters cardiomyopathy ⚠
p.Ala2499Ser Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Ala2513Val Multiple submitters catecholaminergic polymorphic ventricular tachycardia ⚠
p.Ala2515Thr Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ala2603Val Multiple submitters Cardiovascular phenotype
p.Ala2632Val Multiple submitters Cardiovascular phenotype
p.Ala2633Thr Multiple submitters catecholaminergic polymorphic ventricular tachycardia
p.Ala2651Thr Multiple submitters catecholaminergic polymorphic ventricular tachycardia
p.Ala2651Val Multiple submitters Cardiovascular phenotype
p.Ala2665Thr Multiple submitters cardiomyopathy
p.Ala26Thr Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ala2725Ser Multiple submitters cardiomyopathy ⚠
p.Ala2784Ser Multiple submitters catecholaminergic polymorphic ventricular tachycardia
p.Ala2818Val Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Ala2825Asp Multiple submitters cardiomyopathy ⚠
p.Ala283Val Multiple submitters cardiomyopathy
p.Ala2841Glu Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ala2841Val Multiple submitters Cardiovascular phenotype
p.Ala2883Asp Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ala2986Thr Multiple submitters Cardiovascular phenotype
p.Ala3042Glu Multiple submitters Cardiovascular phenotype
p.Ala3065Glu Multiple submitters catecholaminergic polymorphic ventricular tachycardia ⚠
p.Ala3165Thr Multiple submitters cardiomyopathy
p.Ala3169Gly Multiple submitters cardiomyopathy
p.Ala3169Val Multiple submitters catecholaminergic polymorphic ventricular tachycardia ⚠
p.Ala3267Thr Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ala328Ser Multiple submitters catecholaminergic polymorphic ventricular tachycardia
p.Ala3294Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala3330Thr Multiple submitters Cardiovascular phenotype
p.Ala3342Pro Multiple submitters Cardiovascular phenotype
p.Ala3351Thr Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Ala3363Pro Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Ala3392Ser Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Ala3392Thr Multiple submitters Cardiovascular phenotype
p.Ala3442Val Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Ala3482Thr Multiple submitters catecholaminergic polymorphic ventricular tachycardia ⚠
p.Ala3490Ser Multiple submitters catecholaminergic polymorphic ventricular tachycardia
p.Ala3523Thr Multiple submitters catecholaminergic polymorphic ventricular tachycardia
p.Ala3555Ser Multiple submitters Cardiovascular phenotype
p.Ala3555Thr Multiple submitters cardiomyopathy
p.Ala3606Thr Multiple submitters catecholaminergic polymorphic ventricular tachycardia
p.Ala3616Ser Multiple submitters cardiomyopathy
p.Ala3645Thr Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Ala3645Val Multiple submitters catecholaminergic polymorphic ventricular tachycardia
p.Ala3675Gly Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ala3690Pro Multiple submitters catecholaminergic polymorphic ventricular tachycardia ⚠
p.Ala3736Gly Multiple submitters cardiomyopathy ⚠
p.Ala3736Thr Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ala3736Val Multiple submitters catecholaminergic polymorphic ventricular tachycardia
p.Ala3746Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala3756Thr Multiple submitters catecholaminergic polymorphic ventricular tachycardia
p.Ala38Thr Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ala3909Thr Multiple submitters catecholaminergic polymorphic ventricular tachycardia ⚠
p.Ala391Gly Multiple submitters Cardiovascular phenotype
p.Ala4051Val Multiple submitters Cardiovascular phenotype
p.Ala4070= Multiple submitters catecholaminergic polymorphic ventricular tachycardia
p.Ala4070Val Multiple submitters catecholaminergic polymorphic ventricular tachycardia ⚠
p.Ala435Val Multiple submitters cardiomyopathy ⚠
p.Ala4424Pro Multiple submitters catecholaminergic polymorphic ventricular tachycardia
p.Ala442Pro Multiple submitters catecholaminergic polymorphic ventricular tachycardia ⚠
p.Ala442Ser Multiple submitters catecholaminergic polymorphic ventricular tachycardia ⚠
p.Ala4442Val Multiple submitters catecholaminergic polymorphic ventricular tachycardia
p.Ala4486Thr Multiple submitters catecholaminergic polymorphic ventricular tachycardia
p.Ala4512Gly Multiple submitters catecholaminergic polymorphic ventricular tachycardia
p.Ala4542Gly Multiple submitters Cardiovascular phenotype ⚠
p.Ala4542Thr Multiple submitters cardiomyopathy ⚠
p.Ala4556Pro Multiple submitters Cardiovascular phenotype ⚠
p.Ala4556Ser Multiple submitters catecholaminergic polymorphic ventricular tachycardia ⚠
p.Ala4556Thr Multiple submitters Cardiovascular phenotype
p.Ala4675Glu Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Ala4723Gly Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Ala4740fs Multiple submitters Arrhythmogenic right ventricular dysplasia 2
p.Ala4741Thr Multiple submitters catecholaminergic polymorphic ventricular tachycardia ⚠
p.Ala4741Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala481Thr Multiple submitters cardiomyopathy
p.Ala567Pro Multiple submitters catecholaminergic polymorphic ventricular tachycardia ⚠
p.Ala738Gly Multiple submitters catecholaminergic polymorphic ventricular tachycardia ⚠
p.Ala763Val Multiple submitters cardiomyopathy ⚠
p.Ala820Gly Multiple submitters Arrhythmogenic right ventricular dysplasia 2
p.Ala886Pro Multiple submitters catecholaminergic polymorphic ventricular tachycardia ⚠
p.Ala945Ser Multiple submitters Cardiovascular phenotype
p.Ala979Val Multiple submitters Cardiovascular phenotype ⚠
p.Arg1009Gln Multiple submitters Cardiovascular phenotype
p.Arg1009Pro Multiple submitters catecholaminergic polymorphic ventricular tachycardia ⚠
p.Arg1009Trp Multiple submitters Cardiovascular phenotype ⚠
p.Arg1013Trp Multiple submitters Cardiovascular phenotype ⚠
p.Arg1031His Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Arg1041Ter Multiple submitters catecholaminergic polymorphic ventricular tachycardia
p.Arg1055Cys Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Arg1055His Multiple submitters ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome ⚠
p.Arg1055Leu Multiple submitters cardiomyopathy ⚠
p.Arg1074Gly Multiple submitters cardiomyopathy
p.Arg1086Gln Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Arg1089Cys Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Arg1089His Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Arg1100Gln Multiple submitters catecholaminergic polymorphic ventricular tachycardia
p.Arg1119Cys Multiple submitters RYR2-related disorder
p.Arg111Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg111Gly Multiple submitters cardiomyopathy ⚠
p.Arg1133Gly Multiple submitters cardiomyopathy ⚠
p.Arg1133Leu Multiple submitters cardiomyopathy ⚠
p.Arg1154Cys Multiple submitters catecholaminergic polymorphic ventricular tachycardia
p.Arg1154Ser Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Arg122Cys Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Arg1254Gly Multiple submitters Cardiovascular phenotype
p.Arg1254Lys Multiple submitters Cardiovascular phenotype
p.Arg137Gln Multiple submitters catecholaminergic polymorphic ventricular tachycardia
p.Arg137Trp Multiple submitters Cardiovascular phenotype ⚠
p.Arg1392Lys Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Arg1414Trp Multiple submitters cardiomyopathy
p.Arg1431Lys Multiple submitters cardiomyopathy
p.Arg1500Cys Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Arg1500His Multiple submitters catecholaminergic polymorphic ventricular tachycardia ⚠
p.Arg1500Leu Multiple submitters cardiomyopathy ⚠
p.Arg1585Cys Multiple submitters cardiomyopathy ⚠
p.Arg1598Lys Multiple submitters catecholaminergic polymorphic ventricular tachycardia
p.Arg1610Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg1610Ter Multiple submitters Cardiovascular phenotype
p.Arg1614His Multiple submitters catecholaminergic polymorphic ventricular tachycardia ⚠
p.Arg1659Gln Multiple submitters Cardiovascular phenotype
p.Arg1659Trp Multiple submitters cardiomyopathy ⚠
p.Arg1671Gln Multiple submitters catecholaminergic polymorphic ventricular tachycardia
p.Arg1671Trp Multiple submitters Cardiovascular phenotype ⚠
p.Arg1699Cys Multiple submitters catecholaminergic polymorphic ventricular tachycardia ⚠
p.Arg1699His Multiple submitters Cardiovascular phenotype ⚠
p.Arg169Ter Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Arg1718Ser Multiple submitters Cardiovascular phenotype
p.Arg1760Pro Multiple submitters cardiomyopathy
p.Arg176Ter Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Arg1807Trp Multiple submitters catecholaminergic polymorphic ventricular tachycardia ⚠
p.Arg190Lys Multiple submitters Cardiovascular phenotype ⚠
p.Arg190Ser Multiple submitters catecholaminergic polymorphic ventricular tachycardia ⚠
p.Arg1919Trp Multiple submitters Cardiovascular phenotype
p.Arg1921Gln Multiple submitters catecholaminergic polymorphic ventricular tachycardia ⚠
p.Arg1921Trp Multiple submitters Arrhythmogenic right ventricular dysplasia 2 ⚠
p.Arg1941Cys Multiple submitters Cardiovascular phenotype
p.Arg1941His Multiple submitters catecholaminergic polymorphic ventricular tachycardia
p.Arg1993His Multiple submitters Cardiovascular phenotype
p.Arg2026Thr Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Arg2068Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg2090Gln Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Arg2090Trp Multiple submitters cardiomyopathy
p.Arg2100Gln Multiple submitters RYR2-related disorder
p.Arg2100Trp Multiple submitters cardiomyopathy ⚠
p.Arg2127Gln Multiple submitters cardiomyopathy ⚠
p.Arg2127Trp Multiple submitters Cardiovascular phenotype ⚠
p.Arg2144His Multiple submitters cardiomyopathy ⚠
p.Arg2198Cys Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Arg2198His Multiple submitters Cardiovascular phenotype ⚠
p.Arg2205Cys Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Arg2205His Multiple submitters catecholaminergic polymorphic ventricular tachycardia ⚠
p.Arg2258His Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Arg2258Pro Multiple submitters catecholaminergic polymorphic ventricular tachycardia ⚠
p.Arg2267Cys Multiple submitters cardiomyopathy
p.Arg2326Trp Multiple submitters cardiomyopathy ⚠
p.Arg2359Ter Multiple submitters Cardiovascular phenotype
p.Arg2497Trp Multiple submitters catecholaminergic polymorphic ventricular tachycardia ⚠
p.Arg2566Gln Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Arg2566Pro Multiple submitters cardiomyopathy ⚠
p.Arg2566Trp Multiple submitters cardiomyopathy ⚠
p.Arg257Gln Multiple submitters Cardiovascular phenotype
p.Arg257Trp Multiple submitters Cardiovascular phenotype ⚠
p.Arg2581Lys Multiple submitters Cardiovascular phenotype
p.Arg272Cys Multiple submitters catecholaminergic polymorphic ventricular tachycardia ⚠
p.Arg272His Multiple submitters cardiomyopathy ⚠
p.Arg272Leu Multiple submitters ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome ⚠
p.Arg2772His Multiple submitters cardiomyopathy ⚠
p.Arg2772Leu Multiple submitters cardiomyopathy ⚠
p.Arg2788Lys Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Arg2793Trp Multiple submitters catecholaminergic polymorphic ventricular tachycardia
p.Arg2805Cys Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Arg2805His Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Arg2806His Multiple submitters Cardiovascular phenotype
p.Arg2824Gln Multiple submitters cardiomyopathy
p.Arg2824Trp Multiple submitters catecholaminergic polymorphic ventricular tachycardia
p.Arg2886Lys Multiple submitters cardiomyopathy
p.Arg2920Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg2920Leu Multiple submitters Arrhythmogenic right ventricular dysplasia 2 ⚠
p.Arg2920Pro Multiple submitters cardiomyopathy ⚠
p.Arg2931Cys Multiple submitters catecholaminergic polymorphic ventricular tachycardia
p.Arg2931His Multiple submitters catecholaminergic polymorphic ventricular tachycardia
p.Arg296Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg2979Cys Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Arg298His Multiple submitters catecholaminergic polymorphic ventricular tachycardia