TRDN — 1548 ClinVar variants

All ClinVar germline TRDN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 466 flagged for review →

23 Pathogenic · 8 Pathogenic/Likely pathogenic · 24 Likely pathogenic · 78 Conflicting · 118 Benign · 29 Benign/Likely benign · 677 Likely benign · 591 Uncertain significance

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

⚑ Evidence disagreements 466

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 1

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

TRDN p.Gly8Arg Likely pathogenic Single submitter
Cardiovascular phenotype

Predictors agree, ClinVar conflicts 44

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

TRDN p.Ala202Thr Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Ala202Val Conflicting Single submitter
Cardiovascular phenotype
TRDN p.Ala435Val Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Ala6Val Conflicting Single submitter
Cardiovascular phenotype
TRDN p.Arg428Gly Conflicting Single submitter
Cardiovascular phenotype
TRDN p.Arg585Gln Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Arg632Lys Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Arg656Gly Conflicting Single submitter
Cardiovascular phenotype
TRDN p.Arg656Lys Conflicting Single submitter
Cardiovascular phenotype
TRDN p.Arg711Cys Conflicting Single submitter
Cardiovascular phenotype
TRDN p.Arg93Cys Conflicting Single submitter
Cardiovascular phenotype
TRDN p.Asn698Ser Conflicting Single submitter
Cardiovascular phenotype
TRDN p.Asp123Asn Conflicting Single submitter
Cardiovascular phenotype
TRDN p.Asp379Glu Conflicting Single submitter
Cardiovascular phenotype
TRDN p.Asp419Glu Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Gln456Arg Conflicting Single submitter
Cardiovascular phenotype
TRDN p.Gln543Lys Conflicting Single submitter
Cardiovascular phenotype
TRDN p.Gln729His Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Glu120Asp Conflicting Single submitter
Cardiovascular phenotype
TRDN p.Glu340Gly Conflicting Single submitter
Cardiovascular phenotype
TRDN p.Glu340Lys Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia
TRDN p.Glu398Val Conflicting Single submitter
Cardiovascular phenotype
TRDN p.Glu571Asp Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 5
TRDN p.Gly29Arg Conflicting Single submitter
Cardiovascular phenotype
TRDN p.Gly516Ala Conflicting Single submitter
Cardiovascular phenotype
TRDN p.Gly603Ala Conflicting Single submitter
Cardiovascular phenotype
TRDN p.His541Arg Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Ile534Val Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Leu56Pro Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Lys140Arg Conflicting Single submitter
Cardiovascular phenotype
TRDN p.Lys372Arg Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 5
TRDN p.Pro295Leu Conflicting Single submitter
Cardiovascular phenotype
TRDN p.Pro304Leu Conflicting Single submitter
Cardiovascular phenotype
TRDN p.Pro601Ala Conflicting Single submitter
Cardiovascular phenotype
TRDN p.Pro722Ala Conflicting Single submitter
Cardiovascular phenotype
TRDN p.Ser715Gly Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Thr198Ala Conflicting Single submitter
Cardiovascular phenotype
TRDN p.Thr243Ala Conflicting Single submitter
Cardiovascular phenotype
TRDN p.Thr426Ala Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Thr426Pro Conflicting Single submitter
Cardiovascular phenotype
TRDN p.Thr59Met Conflicting Single submitter
Cardiovascular phenotype
TRDN p.Thr604Ile Conflicting Single submitter
Cardiovascular phenotype
TRDN p.Val363Ile Conflicting Single submitter
Cardiovascular phenotype
TRDN p.Val664Ile Conflicting Single submitter
Cardiovascular phenotype

Predictors lean, ClinVar uncertain 379

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 379

TRDN p.Ala184Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Ala289Thr Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Ala355Ser Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Ala369Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Ala429Asp Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Ala435Glu Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Ala485Val Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Ala530Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Ala567Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Ala62Val Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Ala666Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Ala666Thr Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Ala709Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Ala82Val Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Ala95Val Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 5
TRDN p.Arg271Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Arg301Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Arg428Gln Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Arg711His Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Arg93Ser Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Asn9Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Asp118Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Asp122Gly Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Asp146Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Asp252Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Asp544Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Asp595Asn Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Asp627His Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Asp676Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Asp72Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Gln227Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Gln232Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Gln515Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Gln515His Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Gln564Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Gln564His Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Gln727Arg Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Glu119Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Glu126Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Glu155Lys Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Glu176Val Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Glu181Ala Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Glu197Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Glu204Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Glu331Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Glu348Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Glu348Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Glu378Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Glu457Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Glu491Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Glu523Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Glu523Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Glu588Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Glu621Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Glu652Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Gly713Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Gly728Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.His186Gln Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.His403Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Ile133Thr Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Ile143Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Ile276Val Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Ile345Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Ile526Ser Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Ile534Arg Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Ile570Val Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Lys147Glu Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Lys161Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Lys192Thr Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 5
TRDN p.Lys219Glu Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Lys220Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Lys238Arg Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Lys250Asn Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Lys317Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Lys377Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Lys382Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Lys384Glu Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Lys402Asn Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 5
TRDN p.Lys408Glu Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Lys408Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Lys420Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Lys465Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Lys517Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Lys527Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Lys527Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Lys528Glu Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Lys550Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Lys577Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Lys623Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Lys635Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Met500Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Pro137Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Pro244Thr Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Pro284Arg Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Pro288Leu Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Pro292Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Pro352Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Pro352Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Pro386Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Pro392Leu Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 5
TRDN p.Pro417Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Pro492Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Pro578Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Pro589His Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Pro589Thr Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Pro708Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Pro712Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Ser116Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Ser11Phe Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Ser501Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Ser687Asn Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Thr163Ile Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Thr218Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Thr383Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Thr42Met Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Thr43Met Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Thr466Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Thr551Ala Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Tyr104Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Tyr697Cys Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Val222Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Val389Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Val454Ala Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Val561Asp Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Val607Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Val66Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Val66Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Val692Ile Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Ala10Glu Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Ala184Glu Uncertain significance Single submitter
Cardiovascular phenotype
TRDN p.Ala184Thr Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Ala208Thr Uncertain significance Single submitter
Cardiovascular phenotype
TRDN p.Ala235Glu Uncertain significance Single submitter
Cardiovascular phenotype
TRDN p.Ala268Thr Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Ala268Val Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Ala308Val Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Ala319Pro Uncertain significance Single submitter
Cardiovascular phenotype
TRDN p.Ala367Ser Uncertain significance Single submitter
Cardiovascular phenotype
TRDN p.Ala369Ser Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Ala369Val Uncertain significance Single submitter
Cardiovascular phenotype
TRDN p.Ala370Thr Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Ala441Thr Uncertain significance Single submitter
Cardiovascular phenotype
TRDN p.Ala441Val Uncertain significance Single submitter
Cardiovascular phenotype
TRDN p.Ala48Glu Uncertain significance Single submitter
TRDN p.Ala49Pro Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Ala55Val Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Ala574Thr Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia
TRDN p.Ala626Ser Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Ala666Asp Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Arg139Lys Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1

Predictors split 42

The independent predictors disagree with each other — read with care.

TRDN p.Asn75Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Asp112Val Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Asp18His Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Asp695Val Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Gln703His Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Glu98Lys Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Gly22Val Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Ile40Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Lys496Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Phe277Val Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Phe704Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Ser27Phe Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Thr37Ile Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Thr43Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Trp102Cys Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Val16Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Val24Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
TRDN p.Asp265Glu Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Asp265Tyr Uncertain significance Single submitter
Cardiovascular phenotype
TRDN p.Cys270Tyr Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Cys691Ser Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Gln266His Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Gln690His Uncertain significance Single submitter
Cardiovascular phenotype
TRDN p.Glu3Asp Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Gly105Asp Uncertain significance Single submitter
TRDN p.Gly280Glu Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Gly285Glu Uncertain significance Single submitter
Cardiovascular phenotype
TRDN p.Lys179Asn Uncertain significance Single submitter
Cardiovascular phenotype
TRDN p.Lys187Asn Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Lys30Asn Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Lys490Ile Uncertain significance Single submitter
Cardiovascular phenotype
TRDN p.Lys74Glu Uncertain significance Single submitter
Cardiovascular phenotype
TRDN p.Phe269Val Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Phe76Leu Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Ser300Cys Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Ser622Cys Uncertain significance Single submitter
Cardiovascular phenotype
TRDN p.Ser80Phe Conflicting Single submitter
Cardiovascular phenotype
TRDN p.Thr14Ile Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
TRDN p.Thr37Arg Uncertain significance Single submitter
Cardiovascular phenotype
TRDN p.Thr5Ile Uncertain significance Single submitter
Cardiovascular phenotype
TRDN p.Tyr693His Uncertain significance Single submitter
Cardiovascular phenotype
TRDN p.Val53Ile Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1

All TRDN variants

Pathogenic 23

c.22+1G>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 5
c.22+29A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Asp146_Lys147insTer Multiple submitters Cardiovascular phenotype
p.Asp18fs Multiple submitters TRDN-related disorder
p.Lys147fs Multiple submitters Cardiovascular phenotype
p.Lys177Ter Multiple submitters Cardiovascular phenotype
p.Lys20delinsPheTer Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Met1Thr Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Thr99fs Multiple submitters Cardiovascular phenotype
c.232+2T>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Ala208fs Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Asp112fs Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Gln151Ter Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Glu142Ter Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Glu197fs Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Glu98fs Single submitter Cardiovascular phenotype
p.Gly170fs Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Gly170Ter Single submitter catecholaminergic polymorphic ventricular tachycardia 5
p.Lys192fs Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Trp102Ter Single submitter Cardiovascular phenotype
p.Val174fs Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Val31fs Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Thr59Arg No assertion criteria catecholaminergic polymorphic ventricular tachycardia 5

Pathogenic/Likely pathogenic 8

p.Gln205Ter Multiple submitters catecholaminergic polymorphic ventricular tachycardia 5
p.Glu142fs Multiple submitters catecholaminergic polymorphic ventricular tachycardia
p.Glu168Ter Multiple submitters Cardiovascular phenotype
p.Glu178fs Multiple submitters catecholaminergic polymorphic ventricular tachycardia 5
p.Glu181Ter Multiple submitters catecholaminergic polymorphic ventricular tachycardia 5
p.Ile190fs Multiple submitters catecholaminergic polymorphic ventricular tachycardia 5
p.Leu109fs Multiple submitters catecholaminergic polymorphic ventricular tachycardia 5
p.Val162fs Multiple submitters catecholaminergic polymorphic ventricular tachycardia 5

Likely pathogenic 24

c.391+1G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 5
c.1246+1G>T Single submitter catecholaminergic polymorphic ventricular tachycardia 5
c.1673-1G>C Single submitter TRDN-related disorder
c.1720+2T>C Single submitter TRDN-related disorder
c.1783+1G>A Single submitter TRDN-related disorder
c.1784-1G>T Single submitter catecholaminergic polymorphic ventricular tachycardia 5
c.19_22+8del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.23-2A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.424+1G>T Single submitter catecholaminergic polymorphic ventricular tachycardia 5
c.484+1189G>A Single submitter TRDN-related disorder
c.485-2A>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.611-1G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.793+2T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.991+1G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Asn75fs Single submitter catecholaminergic polymorphic ventricular tachycardia 5
p.Gln227fs Single submitter catecholaminergic polymorphic ventricular tachycardia 5
p.Gln298Ter Single submitter catecholaminergic polymorphic ventricular tachycardia 5
p.Glu168fs Single submitter
p.Glu194Ter Single submitter Cardiovascular phenotype
p.Gly8Arg Single submitter Cardiovascular phenotype ⚠
p.His144fs Single submitter TRDN-related disorder
p.Ile54fs Single submitter
p.Lys465Ter Single submitter catecholaminergic polymorphic ventricular tachycardia 5
p.Thr128fs Single submitter catecholaminergic polymorphic ventricular tachycardia 5

Conflicting classifications of pathogenicity 78

c.1052-5C>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1187-2A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1220-3C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1274-6T>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1369+3dup Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1420+1G>T Single submitter Cardiovascular phenotype
c.1472-12G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1472-5C>T Single submitter Cardiovascular phenotype
c.1567+2T>C Single submitter TRDN-related disorder
c.1568-4T>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1598-15ATTT[2] Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1598-4_1598-3insTTTAT Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1672+6T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 5
c.1721-4A>T Single submitter Cardiovascular phenotype
c.1832-4C>T Single submitter Cardiovascular phenotype
c.1951+6C>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1952-5T>C Single submitter Cardiovascular phenotype
c.232+2T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.520_550+494del Single submitter Cardiovascular phenotype
c.550+1_550+2insA Single submitter Cardiovascular phenotype
c.601_610+45delinsG Single submitter Cardiovascular phenotype
c.*15C>T Single submitter
c.*20A>G Single submitter
p.Ala202Thr Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ala202Val Single submitter Cardiovascular phenotype ⚠
p.Ala435Val Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ala6Val Single submitter Cardiovascular phenotype ⚠
p.Arg428Gly Single submitter Cardiovascular phenotype ⚠
p.Arg428Ter Single submitter Cardiovascular phenotype
p.Arg585Gln Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Arg632Lys Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Arg656Gly Single submitter Cardiovascular phenotype ⚠
p.Arg656Lys Single submitter Cardiovascular phenotype ⚠
p.Arg711Cys Single submitter Cardiovascular phenotype ⚠
p.Arg93Cys Single submitter Cardiovascular phenotype ⚠
p.Asn698Ser Single submitter Cardiovascular phenotype ⚠
p.Asp123Asn Single submitter Cardiovascular phenotype ⚠
p.Asp275= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Asp379Glu Single submitter Cardiovascular phenotype ⚠
p.Asp419Glu Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Gln266Arg Single submitter Cardiovascular phenotype
p.Gln456Arg Single submitter Cardiovascular phenotype ⚠
p.Gln543Lys Single submitter Cardiovascular phenotype ⚠
p.Gln729His Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Glu120Asp Single submitter Cardiovascular phenotype ⚠
p.Glu340Gly Single submitter Cardiovascular phenotype ⚠
p.Glu340Lys Single submitter catecholaminergic polymorphic ventricular tachycardia ⚠
p.Glu351fs Single submitter Cardiovascular phenotype
p.Glu398Val Single submitter Cardiovascular phenotype ⚠
p.Glu431fs Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Glu455= Single submitter Cardiovascular phenotype
p.Glu571Asp Single submitter catecholaminergic polymorphic ventricular tachycardia 5 ⚠
p.Gly29Arg Single submitter Cardiovascular phenotype ⚠
p.Gly516Ala Single submitter Cardiovascular phenotype ⚠
p.Gly603Ala Single submitter Cardiovascular phenotype ⚠
p.Gly603fs Single submitter catecholaminergic polymorphic ventricular tachycardia 5
p.His541Arg Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.His554= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Ile534Val Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Leu56Pro Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Lys140Arg Single submitter Cardiovascular phenotype ⚠
p.Lys372Arg Single submitter catecholaminergic polymorphic ventricular tachycardia 5 ⚠
p.Lys531= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Pro295Leu Single submitter Cardiovascular phenotype ⚠
p.Pro304Leu Single submitter Cardiovascular phenotype ⚠
p.Pro601Ala Single submitter Cardiovascular phenotype ⚠
p.Pro722Ala Single submitter Cardiovascular phenotype ⚠
p.Ser715Gly Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ser80Phe Single submitter Cardiovascular phenotype ⚠
p.Thr198Ala Single submitter Cardiovascular phenotype ⚠
p.Thr243Ala Single submitter Cardiovascular phenotype ⚠
p.Thr426Ala Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Thr426Pro Single submitter Cardiovascular phenotype ⚠
p.Thr59Met Single submitter Cardiovascular phenotype ⚠
p.Thr604Ile Single submitter Cardiovascular phenotype ⚠
p.Val363Ile Single submitter Cardiovascular phenotype ⚠
p.Val561= Single submitter Cardiovascular phenotype
p.Val664Ile Single submitter Cardiovascular phenotype ⚠

Benign 118

c.1105+5G>A Multiple submitters Cardiovascular phenotype
c.1186+16C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1370-11C>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1805-21_1805-20dup Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.2051-19G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 5
c.392-148C>T Multiple submitters
c.484+1457C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.484+41C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 5
p.Ile438Ser Multiple submitters Cardiovascular phenotype
p.Leu201Val Multiple submitters Cardiovascular phenotype
p.Lys396= Multiple submitters Cardiovascular phenotype
c.1051+232A>C Single submitter
c.1052-10del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1052-10dup Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1105+112G>A Single submitter
c.1105+113C>A Single submitter
c.1106-137A>G Single submitter
c.1135+17dup Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1165+130AG[15] Single submitter
c.1165+130AG[17] Single submitter
c.1165+130AG[18] Single submitter
c.1165+95G>A Single submitter
c.1166-107A>C Single submitter
c.1220-19del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1220-19dup Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1220-20_1220-19del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1246+199C>T Single submitter
c.1246+317C>T Single submitter
c.1274-105A>G Single submitter
c.1274-290A>C Single submitter
c.1321+39G>C Single submitter
c.1369+229C>A Single submitter
c.1369+2599del Single submitter
c.1370-44C>T Single submitter
c.1370-83A>C Single submitter
c.1420+84T>C Single submitter
c.1420+93A>G Single submitter
c.1472-269G>A Single submitter
c.1511-13del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1511-13dup Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1511-5del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1537+100del Single submitter
c.1537+135G>T Single submitter
c.1537+30C>T Single submitter
c.1567+123dup Single submitter
c.1568-54T>G Single submitter
c.1598-36G>A Single submitter
c.1672+221C>A Single submitter
c.1720+76CA[13] Single submitter
c.1720+76CA[14] Single submitter
c.1720+76CA[15] Single submitter
c.1721-127A>T Single submitter
c.1721-24T>C Single submitter
c.1738+216C>T Single submitter
c.1739-210G>A Single submitter
c.1739-45_1739-42dup Single submitter
c.1784-10dup Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1784-17dup Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1804+163G>T Single submitter
c.1804+295A>G Single submitter
c.1805-156C>T Single submitter
c.1870+109G>A Single submitter
c.1870+94G>A Single submitter
c.1871-219C>T Single submitter
c.1906+122T>C Single submitter
c.1906+14del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1907-13dup Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1952-58del Single submitter
c.1976-12dup Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1976-225C>G Single submitter
c.1976-96G>A Single submitter
c.2014+78del Single submitter
c.2015-10del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.2015-10dup Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.22+276T>G Single submitter
c.23-155C>T Single submitter
c.23-227G>T Single submitter
c.23-228A>C Single submitter
c.23-60C>T Single submitter
c.232+186C>T Single submitter
c.232+24T>C Single submitter
c.232+67C>T Single submitter
c.233-149C>A Single submitter
c.391+140T>C Single submitter
c.392-153dup Single submitter
c.424+197T>C Single submitter
c.425-155T>A Single submitter
c.484+113C>G Single submitter
c.484+1458G>A Single submitter
c.484+153_484+179del Single submitter
c.484+204A>T Single submitter
c.484+61C>T Single submitter
c.484+921T>C Single submitter
c.485-266T>C Single submitter
c.550+98A>C Single submitter
c.611-321A>G Single submitter
c.793+611G>T Single submitter
c.794-183T>C Single submitter
c.794-231C>G Single submitter
c.853+243C>T Single submitter
c.854-134del Single submitter
c.854-237A>G Single submitter
c.854-325C>T Single submitter
c.931+18dup Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.932-271A>G Single submitter
c.991+122G>A Single submitter
c.992-203_992-202insA Single submitter
c.992-203_992-202insAAA Single submitter
c.992-203G>A Single submitter
c.992-206_992-204dup Single submitter
c.992-215dup Single submitter
c.-135A>G Single submitter
c.-459C>G Single submitter
c.-573A>C Single submitter
c.*137G>A Single submitter
c.*220C>T Single submitter
c.*61A>G Single submitter
c.*62G>A Single submitter

Benign/Likely benign 29

c.1105+13del Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1538-13T>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 5
c.1567+19T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 5
c.1598-6dup Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1721-4A>G Multiple submitters Cardiovascular phenotype
c.1784-17del Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1805-21dup Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1805-6C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1805-7del Multiple submitters
c.1871-15G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 5
c.1975+9G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.2050+16G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.233-13del Multiple submitters
c.233-14_233-13del Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.233-15_233-13del Multiple submitters Cardiovascular phenotype
c.931+18del Multiple submitters catecholaminergic polymorphic ventricular tachycardia 5
c.932-4C>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.166EK[1] Multiple submitters Cardiovascular phenotype
p.Ala366Thr Multiple submitters Cardiovascular phenotype
p.Glu135Lys Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.His144Tyr Multiple submitters Cardiovascular phenotype
p.Ile438Asn Multiple submitters Cardiovascular phenotype
p.Ile540Met Multiple submitters Cardiovascular phenotype
p.Leu470Met Multiple submitters Cardiovascular phenotype
p.Pro511Thr Multiple submitters Cardiovascular phenotype
p.Ser339Asn Multiple submitters Cardiovascular phenotype
p.Thr128Ser Multiple submitters Cardiovascular phenotype
p.Val404Gly Multiple submitters Cardiovascular phenotype
p.Val92Ile Multiple submitters Cardiovascular phenotype

Likely benign 677

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

c.1051+7C>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1106-19G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1106-19G>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1106-20C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1135+10A>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1186+13A>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1219+4A>G Multiple submitters Cardiovascular phenotype
c.1247-8A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1321+15A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 5
c.1321+17G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1322-130G>C Multiple submitters
c.1322-21_1322-20del Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1369+9A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1420+16T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1420+20A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1420+7G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1421-15G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1472-13C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1510+10T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1511-14T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1537+17C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1538-19T>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1597+10G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1598-20_1598-19del Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1598-20A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1624+40C>A Multiple submitters
c.1625-61C>T Multiple submitters
c.1673-141A>G Multiple submitters
c.1721-202G>T Multiple submitters
c.1783+18G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1805-19_1805-18insC Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1805-21_1805-19dup Multiple submitters
c.1831+12C>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1831+17T>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1831+39G>C Multiple submitters
c.1832-4C>A Multiple submitters Cardiovascular phenotype
c.1951+15C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 5
c.1951+16G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1952-10C>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1952-8C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1975+8C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 5
c.2050+9A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.22+8T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.23-19T>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 5
c.232+15A>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.425-11dup Multiple submitters catecholaminergic polymorphic ventricular tachycardia 5
c.484+7del Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.485-7T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 5
c.551-20T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.551-4T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.611-19A>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.931+10T>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.932-11G>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.991+11T>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.*19T>G Multiple submitters
p.Ala202= Multiple submitters Cardiovascular phenotype
p.Ala268= Multiple submitters Cardiovascular phenotype
p.Ala366= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Ala435= Multiple submitters Cardiovascular phenotype
p.Ala49= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Arg301= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Asn698= Multiple submitters Cardiovascular phenotype
p.Asp125= Multiple submitters Cardiovascular phenotype
p.Asp39= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Asp472= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Asp663= Multiple submitters Cardiovascular phenotype
p.Cys691= Multiple submitters Cardiovascular phenotype
p.Gln644= Multiple submitters Cardiovascular phenotype
p.Glu168Lys Multiple submitters catecholaminergic polymorphic ventricular tachycardia 5
p.Glu197= Multiple submitters Cardiovascular phenotype
p.Glu320= Multiple submitters Cardiovascular phenotype
p.Glu405= Multiple submitters Cardiovascular phenotype
p.Glu520= Multiple submitters Cardiovascular phenotype
p.Glu536= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Gly170= Multiple submitters Cardiovascular phenotype
p.Gly274Arg Multiple submitters catecholaminergic polymorphic ventricular tachycardia 5
p.Gly361= Multiple submitters Cardiovascular phenotype
p.Gly504= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Gly504Ser Multiple submitters Cardiovascular phenotype
p.Gly723= Multiple submitters Cardiovascular phenotype
p.Gly8= Multiple submitters Cardiovascular phenotype
p.Gly85= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Ile345= Multiple submitters Cardiovascular phenotype
p.Ile526Leu Multiple submitters Cardiovascular phenotype
p.Ile592= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Ile65= Multiple submitters Cardiovascular phenotype
p.Leu470= Multiple submitters Cardiovascular phenotype
p.Leu51= Multiple submitters Cardiovascular phenotype
p.Leu91= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Lys182= Multiple submitters Cardiovascular phenotype
p.Lys192= Multiple submitters Cardiovascular phenotype
p.Lys193= Multiple submitters Cardiovascular phenotype
p.Lys217= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Lys223= Multiple submitters Cardiovascular phenotype
p.Lys260= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Lys321= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Lys337= Multiple submitters Cardiovascular phenotype
p.Lys465= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Lys477= Multiple submitters Cardiovascular phenotype
p.Lys521= Multiple submitters Cardiovascular phenotype
p.Lys593= Multiple submitters Cardiovascular phenotype
p.Lys669= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Lys681= Multiple submitters Cardiovascular phenotype
p.Met285Thr Multiple submitters catecholaminergic polymorphic ventricular tachycardia 5
p.Pro180= Multiple submitters Cardiovascular phenotype
p.Pro28= Multiple submitters Cardiovascular phenotype
p.Pro292= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Pro295= Multiple submitters Cardiovascular phenotype
p.Pro352= Multiple submitters Cardiovascular phenotype
p.Pro88= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Ser115= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Ser116= Multiple submitters Cardiovascular phenotype
p.Ser287= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Ser501= Multiple submitters Cardiovascular phenotype
p.Ter730= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Thr100= Multiple submitters Cardiovascular phenotype
p.Thr160= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Thr210= Multiple submitters Cardiovascular phenotype
p.Thr243Ile Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Thr42= Multiple submitters Cardiovascular phenotype
p.Thr426= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Thr43= Multiple submitters Cardiovascular phenotype
p.Tyr104= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Tyr697= Multiple submitters Cardiovascular phenotype
p.Val416= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Val538= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Val657= Multiple submitters Cardiovascular phenotype
p.Val71= Multiple submitters Cardiovascular phenotype
c.1051+10_1051+11insTGTT Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1051+13_1051+16del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1051+14T>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1051+18T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1051+20T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1051+7C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1051+8A>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1051+9C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1052-15T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1052-16T>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1052-18T>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1052-18T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1052-19_1052-18del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1052-9C>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1052-9C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1052-9del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1105+11A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1106-16A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1106-18C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1106-5T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1106-7A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1106-8T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1136-10G>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1136-13T>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1136-14C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1136-19T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1136-213G>A Single submitter
c.1136-7T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1165+130AG[19] Single submitter
c.1165+130AG[21] Single submitter
c.1165+16C>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1165+48A>G Single submitter
c.1165+9C>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1166-10T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1166-52C>T Single submitter
c.1166-6T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1186+11G>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1186+12C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1186+13A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1186+93T>C Single submitter
c.1186+9A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1187-13T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1187-15A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1187-16T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1187-19C>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1187-19C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1187-31TAA[3] Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1219+7_1219+8del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1219+8T>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1220-12T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1220-17T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1220-19T>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1220-7G>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1246+10A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1246+11C>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1246+12C>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1246+15T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1246+8A>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1247-17T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1247-19T>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1247-201C>A Single submitter
c.1247-20T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1247-281T>C Single submitter
c.1247-8A>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1247-9C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1273+16T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1273+16T>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1273+31A>G Single submitter
c.1273+7T>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1273+8G>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1274-11T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1274-16A>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1321+10G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1321+10G>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1321+11C>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1321+11C>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1321+17G>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1321+19T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1321+7G>T Single submitter
c.1321+9A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1322-179C>T Single submitter
c.1322-17T>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1322-224A>G Single submitter
c.1322-9_1322-6dup Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1369+107_1369+109del Single submitter
c.1369+11A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1369+15A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1369+16G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1369+1729A>C Single submitter
c.1369+20G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1369+9A>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1370-13A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1370-14G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1370-15T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1370-19C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1370-20_1370-8del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1420+14T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1420+17A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1420+17A>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1420+18A>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1420+18A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1420+196T>C Single submitter
c.1420+37T>A Single submitter
c.1420+8_1420+9del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1421-13T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1421-147_1421-145dup Single submitter
c.1421-14A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1421-16C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1421-19G>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1421-20T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1471+10T>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1471+10T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1471+11A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1471+14A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1471+15T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1471+16G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1471+193T>C Single submitter
c.1471+20T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1471+7T>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1471+8_1471+10del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1472-4C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1510+14G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1510+14G>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1510+17A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1510+20T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1511-11C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1511-12A>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1511-20A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1511-20A>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1511-9T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1537+16G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1537+17C>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1537+18_1537+19insTAAA Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1537+18T>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1537+19C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1537+280A>T Single submitter
c.1538-12C>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1538-17T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1538-19T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1538-20A>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1567+10T>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1567+15T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1567+16T>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1567+18A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1567+19_1567+20del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1567+9A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1568-14T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1568-15T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1568-16C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1568-17C>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1568-18G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1568-20del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1568-5C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1597+10G>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1597+11C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1597+15A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1597+20A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1598-11A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1598-12T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1598-12T>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1598-15_1598-13del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1598-16T>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1598-16T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1598-18_1598-14del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1598-23_1598-19del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1598-266G>A Single submitter
c.1598-6T>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1624+20T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1624+30G>A Single submitter
c.1624+9T>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1625-11A>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1625-15T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1

Uncertain significance 591

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

c.1051+1G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1051+1G>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1136-1G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1136-2_1136-1delinsTA Multiple submitters Cardiovascular phenotype
c.1166-1G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1166-2A>C Multiple submitters Cardiovascular phenotype
c.1187-3C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1273+4T>C Multiple submitters Cardiovascular phenotype
c.1273+5G>A Multiple submitters Cardiovascular phenotype
c.1321+2T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1322-10T>A Multiple submitters Cardiovascular phenotype
c.1370-11_1370-10delinsAC Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1471+5T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1537+1G>A Multiple submitters Cardiovascular phenotype
c.1597+3A>G Multiple submitters Cardiovascular phenotype
c.1624+1G>A Multiple submitters Cardiovascular phenotype
c.1624+1G>C Multiple submitters Cardiovascular phenotype
c.1624+3A>G Multiple submitters Cardiovascular phenotype
c.1673-3C>G Multiple submitters Cardiovascular phenotype
c.1804+2T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1805-2A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1975+4del Multiple submitters Cardiovascular phenotype
c.1975+5G>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.1976-3T>C Multiple submitters Cardiovascular phenotype
c.22+4T>C Multiple submitters Cardiovascular phenotype
c.604_610+47del Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.853+3A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.991+3A>G Multiple submitters Cardiovascular phenotype
p.176EK[1] Multiple submitters Cardiovascular phenotype
p.Ala184Ser Multiple submitters Cardiovascular phenotype ⚠
p.Ala289Thr Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ala355Ser Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ala369Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala429Asp Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ala435Glu Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ala485Val Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ala530Gly Multiple submitters Cardiovascular phenotype ⚠
p.Ala567Asp Multiple submitters Cardiovascular phenotype ⚠
p.Ala62Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala666Pro Multiple submitters Cardiovascular phenotype ⚠
p.Ala666Thr Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ala709Glu Multiple submitters Cardiovascular phenotype ⚠
p.Ala82Val Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ala95Val Multiple submitters catecholaminergic polymorphic ventricular tachycardia 5 ⚠
p.Arg271Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg271Ter Multiple submitters Cardiovascular phenotype
p.Arg301Lys Multiple submitters Cardiovascular phenotype ⚠
p.Arg428Gln Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Arg711His Multiple submitters Cardiovascular phenotype ⚠
p.Arg93Ser Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Asn75Ile Multiple submitters Cardiovascular phenotype ⚠
p.Asn9Asp Multiple submitters Cardiovascular phenotype ⚠
p.Asp112Val Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Asp118Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Asp122Gly Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Asp123del Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Asp146Gly Multiple submitters Cardiovascular phenotype ⚠
p.Asp18His Multiple submitters Cardiovascular phenotype ⚠
p.Asp252Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Asp544Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp595Asn Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Asp627His Multiple submitters Cardiovascular phenotype ⚠
p.Asp676Gly Multiple submitters Cardiovascular phenotype ⚠
p.Asp695Val Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Asp72Asn Multiple submitters Cardiovascular phenotype ⚠
p.Gln227Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gln232Lys Multiple submitters Cardiovascular phenotype ⚠
p.Gln513Ter Multiple submitters Cardiovascular phenotype
p.Gln515Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gln515His Multiple submitters Cardiovascular phenotype ⚠
p.Gln564Glu Multiple submitters Cardiovascular phenotype ⚠
p.Gln564His Multiple submitters Cardiovascular phenotype ⚠
p.Gln703His Multiple submitters Cardiovascular phenotype ⚠
p.Gln726Ter Multiple submitters Cardiovascular phenotype
p.Gln727Arg Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Gln727Ter Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Gln729Ter Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Glu119Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu126Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu155Lys Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Glu176Val Multiple submitters Cardiovascular phenotype ⚠
p.Glu181Ala Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Glu197Asp Multiple submitters Cardiovascular phenotype ⚠
p.Glu204Gly Multiple submitters Cardiovascular phenotype ⚠
p.Glu331Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu348Gln Multiple submitters Cardiovascular phenotype ⚠
p.Glu348Gly Multiple submitters Cardiovascular phenotype ⚠
p.Glu378Gly Multiple submitters Cardiovascular phenotype ⚠
p.Glu457Gly Multiple submitters Cardiovascular phenotype ⚠
p.Glu491Gln Multiple submitters Cardiovascular phenotype ⚠
p.Glu523Asp Multiple submitters Cardiovascular phenotype ⚠
p.Glu523Gln Multiple submitters Cardiovascular phenotype ⚠
p.Glu588Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu621Gly Multiple submitters Cardiovascular phenotype ⚠
p.Glu634fs Multiple submitters Cardiovascular phenotype
p.Glu652Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu98Lys Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Gly22Val Multiple submitters Cardiovascular phenotype ⚠
p.Gly434_Val436del Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Gly713Glu Multiple submitters Cardiovascular phenotype ⚠
p.Gly728Arg Multiple submitters Cardiovascular phenotype ⚠
p.His186Gln Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.His403Pro Multiple submitters Cardiovascular phenotype ⚠
p.Ile114del Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Ile133Thr Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ile143Leu Multiple submitters Cardiovascular phenotype ⚠
p.Ile276Val Multiple submitters Cardiovascular phenotype ⚠
p.Ile345Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile40Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile526Ser Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ile534Arg Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ile570Val Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Leu643fs Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Lys147Glu Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Lys161Thr Multiple submitters Cardiovascular phenotype ⚠
p.Lys192Thr Multiple submitters catecholaminergic polymorphic ventricular tachycardia 5 ⚠
p.Lys199Asn Multiple submitters Cardiovascular phenotype
p.Lys219Glu Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Lys220Arg Multiple submitters Cardiovascular phenotype ⚠
p.Lys238Arg Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Lys250Asn Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Lys317Glu Multiple submitters Cardiovascular phenotype ⚠
p.Lys318del Multiple submitters Cardiovascular phenotype
p.Lys330= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Lys377Arg Multiple submitters Cardiovascular phenotype ⚠
p.Lys382Glu Multiple submitters Cardiovascular phenotype ⚠
p.Lys384Glu Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Lys402Asn Multiple submitters catecholaminergic polymorphic ventricular tachycardia 5 ⚠
p.Lys408Glu Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Lys408Thr Multiple submitters Cardiovascular phenotype ⚠
p.Lys412fs Multiple submitters Cardiovascular phenotype
p.Lys420Arg Multiple submitters Cardiovascular phenotype ⚠
p.Lys465Asn Multiple submitters Cardiovascular phenotype ⚠
p.Lys496Ile Multiple submitters Cardiovascular phenotype ⚠
p.Lys517Glu Multiple submitters Cardiovascular phenotype ⚠
p.Lys527Arg Multiple submitters Cardiovascular phenotype ⚠
p.Lys527Glu Multiple submitters Cardiovascular phenotype ⚠
p.Lys528Glu Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Lys550Glu Multiple submitters Cardiovascular phenotype ⚠
p.Lys577Glu Multiple submitters Cardiovascular phenotype ⚠
p.Lys598fs Multiple submitters Cardiovascular phenotype
p.Lys623Gln Multiple submitters Cardiovascular phenotype ⚠
p.Lys635Arg Multiple submitters Cardiovascular phenotype ⚠
p.Met500Thr Multiple submitters Cardiovascular phenotype ⚠
p.Phe277Val Multiple submitters Cardiovascular phenotype ⚠
p.Phe704Ile Multiple submitters Cardiovascular phenotype ⚠
p.Pro137Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro244fs Multiple submitters Cardiovascular phenotype
p.Pro244Thr Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Pro284Arg Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Pro288Leu Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Pro292Ser Multiple submitters Cardiovascular phenotype ⚠
p.Pro352Gln Multiple submitters Cardiovascular phenotype ⚠
p.Pro352Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro386Thr Multiple submitters Cardiovascular phenotype ⚠
p.Pro392Leu Multiple submitters catecholaminergic polymorphic ventricular tachycardia 5 ⚠
p.Pro417Ala Multiple submitters Cardiovascular phenotype ⚠
p.Pro492Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro557= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 5
p.Pro578Gln Multiple submitters Cardiovascular phenotype ⚠
p.Pro589His Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Pro589Thr Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Pro708Ser Multiple submitters Cardiovascular phenotype ⚠
p.Pro712Leu Multiple submitters Cardiovascular phenotype ⚠
p.Ser116Pro Multiple submitters Cardiovascular phenotype ⚠
p.Ser11Phe Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ser27Phe Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ser501Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ser687Asn Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ter730Gln Multiple submitters Cardiovascular phenotype
p.Thr15_Val16del Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Thr163Ile Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Thr218Pro Multiple submitters Cardiovascular phenotype ⚠
p.Thr37Ile Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Thr383Ile Multiple submitters Cardiovascular phenotype ⚠
p.Thr42Met Multiple submitters Cardiovascular phenotype ⚠
p.Thr43Ala Multiple submitters Cardiovascular phenotype ⚠
p.Thr43Met Multiple submitters Cardiovascular phenotype ⚠
p.Thr466Ser Multiple submitters Cardiovascular phenotype ⚠
p.Thr551Ala Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Thr573fs Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Trp102Cys Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Tyr104Asn Multiple submitters Cardiovascular phenotype ⚠
p.Tyr104Cys Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Tyr697Cys Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Val16Leu Multiple submitters Cardiovascular phenotype ⚠
p.Val222Gly Multiple submitters Cardiovascular phenotype ⚠
p.Val24Glu Multiple submitters Cardiovascular phenotype ⚠
p.Val389Leu Multiple submitters Cardiovascular phenotype ⚠
p.Val454Ala Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Val561Asp Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Val607Leu Multiple submitters Cardiovascular phenotype ⚠
p.Val66Ile Multiple submitters Cardiovascular phenotype ⚠
p.Val66Phe Multiple submitters Cardiovascular phenotype ⚠
p.Val692Ile Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Val71Met Multiple submitters Cardiovascular phenotype
c.1051+3A>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1051+5T>C Single submitter Cardiovascular phenotype
c.1051+6G>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1052-1G>C Single submitter Cardiovascular phenotype
c.1105+1del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1135+1G>A Single submitter Cardiovascular phenotype
c.1186+1G>C Single submitter
c.1273+1G>A Single submitter
c.1274-3C>G Single submitter
c.1274-8A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1321+1del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1321+1G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1321+1G>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1322-1G>A Single submitter Cardiovascular phenotype
c.1369+2del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1370-15T>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1420+2T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1421-13T>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1510+1G>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1510+5G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1537+5G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1538-7T>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1597+5C>A Single submitter Cardiovascular phenotype
c.1624+6T>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1625-3C>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1672+3A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1673-18C>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1721-3C>G Single submitter Cardiovascular phenotype
c.1783+2T>C Single submitter
c.(1804+1_1805-1 Single submitter Cardiovascular phenotype
c.1804+6T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1805-6_1805-4delinsT Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1805-6_1805-4delinsTTT Single submitter Cardiovascular phenotype
c.1870+5A>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1871-2A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1871-9T>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1906+4A>C Single submitter Cardiovascular phenotype
c.1906+6T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1906+6T>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1907-2A>G Single submitter Cardiovascular phenotype
c.1907-3_1907-2del Single submitter Cardiovascular phenotype
c.1907-3C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1907-6T>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1952-1G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1975+14G>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1975+1G>C Single submitter Cardiovascular phenotype
c.1975+8C>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1976-6C>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.2014+1G>T Single submitter
c.2014+5G>A Single submitter Cardiovascular phenotype
c.2014+6T>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.2015-2A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.2015-6C>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.2050+1G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.2050+2_2050+16delinsATTATT Single submitter Cardiovascular phenotype
c.2050+2T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.23-1G>A Single submitter Cardiovascular phenotype
c.23-3T>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.232+6T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.232+6T>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.233-11A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.424+2T>C Single submitter Cardiovascular phenotype
c.425-11T>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.425-3_(484+1243_485-1 Single submitter Cardiovascular phenotype
c.425-4_425-3insLINE1 Single submitter catecholaminergic polymorphic ventricular tachycardia
c.484+6C>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.484+6C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.485-2A>G Single submitter
c.793+1G>A Single submitter Cardiovascular phenotype
c.794-5del Single submitter Cardiovascular phenotype
c.853+6C>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.854-2A>T Single submitter Cardiovascular phenotype
c.931+6T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.932-1G>C Single submitter Cardiovascular phenotype
p.Ala10Glu Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ala184Glu Single submitter Cardiovascular phenotype ⚠
p.Ala184Thr Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ala208Thr Single submitter Cardiovascular phenotype ⚠
p.Ala235Glu Single submitter Cardiovascular phenotype ⚠
p.Ala268Thr Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ala268Val Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ala308Val Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ala319Pro Single submitter Cardiovascular phenotype ⚠
p.Ala367Ser Single submitter Cardiovascular phenotype ⚠
p.Ala369Ser Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ala369Val Single submitter Cardiovascular phenotype ⚠
p.Ala370Thr Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ala441Thr Single submitter Cardiovascular phenotype ⚠
p.Ala441Val Single submitter Cardiovascular phenotype ⚠
p.Ala48Glu Single submitter ⚠
p.Ala49Pro Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ala55Val Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ala574Thr Single submitter catecholaminergic polymorphic ventricular tachycardia ⚠
p.Ala626fs Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Ala626Ser Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ala666Asp Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Arg139Lys Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Arg271Pro Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Arg459Ter Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Arg585Ter Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Arg632fs Single submitter Cardiovascular phenotype
p.Arg639del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Arg93His Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Asn21Thr Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠