CASQ2 — 831 ClinVar variants

All ClinVar germline CASQ2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 294 flagged for review →

32 Pathogenic · 19 Pathogenic/Likely pathogenic · 25 Likely pathogenic · 41 Conflicting · 50 Benign · 22 Benign/Likely benign · 314 Likely benign · 328 Uncertain significance

Full CASQ2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 294

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 2

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

CASQ2 p.Tyr55Cys Pathogenic/Likely pathogenic Multiple submitters
Cardiovascular phenotype
CASQ2 p.Asp32Asn Likely pathogenic Single submitter

Predictors agree, ClinVar conflicts 13

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

CASQ2 p.Arg250Cys Conflicting Single submitter
Cardiovascular phenotype
CASQ2 p.Arg293Pro Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 2
CASQ2 p.Asp300Asn Conflicting Single submitter
Cardiovascular phenotype
CASQ2 p.Asp378Glu Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Asp396Glu Conflicting Single submitter
Cardiovascular phenotype
CASQ2 p.Glu377Asp Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Ile161Val Conflicting Single submitter
Cardiovascular phenotype
CASQ2 p.Ile225Val Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Ile270Thr Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Leu366Pro Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Lys97Glu Conflicting Single submitter
Cardiovascular phenotype
CASQ2 p.Thr27Ile Conflicting Single submitter
Cardiovascular phenotype
CASQ2 p.Val315Ile Conflicting Single submitter
catecholaminergic polymorphic ventricular tachycardia 1

Predictors lean, ClinVar uncertain 138

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

CASQ2 p.Ala130Val Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 2
CASQ2 p.Ala157Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Ala157Pro Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 2
CASQ2 p.Ala226Ser Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Arg160His Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Arg250Leu Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 2
CASQ2 p.Arg253His Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 2
CASQ2 p.Arg293Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Asp132Val Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Asp351Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Asp379Glu Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 2
CASQ2 p.Cys53Phe Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Gln69Glu Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia
CASQ2 p.Glu159Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Glu39Gln Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 2
CASQ2 p.Glu39Lys Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Glu58Lys Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 2
CASQ2 p.Gly22Arg Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 2
CASQ2 p.Gly90Arg Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.His86Arg Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Ile11Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Ile149Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Ile161Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Ile161Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Ile89Val Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Leu265Val Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 2
CASQ2 p.Leu288Val Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Leu79Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Lys205Asn Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Met211Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Met344Leu Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 2
CASQ2 p.Met344Lys Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 2
CASQ2 p.Phe137Leu Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 2
CASQ2 p.Phe311Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Phe91Leu Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 2
CASQ2 p.Pro247Arg Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Pro247Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Pro329Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Ser113Arg Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Ser113Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Ser15Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Trp361Arg Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 2
CASQ2 p.Trp361Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Tyr164Cys Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Tyr178His Uncertain significance Multiple submitters
cardiomyopathy
CASQ2 p.Tyr28Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Val214Phe Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 2
CASQ2 p.Val336Ile Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 2
CASQ2 p.Val34Gly Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Val45Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Ala157Thr Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Ala181Pro Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Ala316Thr Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Ala339Pro Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Ala81Thr Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 2
CASQ2 p.Ala81Val Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Ala96Gly Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Ala96Thr Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Arg160Leu Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Arg160Ser Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Arg253Leu Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Arg253Pro Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Arg33Leu Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Arg3Ile Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Asn229Lys Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Asn384Asp Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Asn390Asp Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Asp163Asn Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Asp307Asn Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Asp307Glu Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Asp351His Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Asp374Asn Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 2
CASQ2 p.Asp374Gly Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Asp383Glu Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Cys53Tyr Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Glu147Gly Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Glu162Lys Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Glu184Lys Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Glu235Asp Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 2
CASQ2 p.Glu239Asp Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Glu262Lys Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Glu275Gln Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Glu275Val Uncertain significance Single submitter
cardiomyopathy
CASQ2 p.Gly112Glu Uncertain significance Single submitter
CASQ2 p.Gly119Asp Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Gly127Asp Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Gly368Arg Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.His86Gln Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Ile123Leu Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Ile165Val Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Ile193Ser Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Ile268Val Uncertain significance Single submitter
CASQ2 p.Ile270Leu Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Ile270Phe Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Ile270Val Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Ile331Thr Uncertain significance Single submitter
CASQ2 p.Ile362Leu Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Ile362Thr Uncertain significance Single submitter
CASQ2 p.Ile8Val Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Leu102His Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Leu134Trp Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Leu141Arg Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Leu313Val Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Leu72Met Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Lys166Asn Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Lys180Gln Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Lys289Glu Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Lys2Arg Uncertain significance Single submitter
cardiomyopathy
CASQ2 p.Lys323Arg Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Lys98Glu Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Met211Thr Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Met211Val Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Met221Ile Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Met221Val Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Met93Ile Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Met93Thr Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Met93Val Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Phe195Leu Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Phe311Cys Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Pro224Ser Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Pro329Thr Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Ser150Asn Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Ser151Asn Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Ser302Thr Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Ser36Asn Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Thr4Ala Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Thr4Ile Uncertain significance Single submitter
CASQ2 p.Thr4Ser Uncertain significance Single submitter
CASQ2 p.Trp261Arg Uncertain significance Single submitter
CASQ2 p.Trp318Cys Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Trp343Cys Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Val203Ile Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Val333Ala Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Val333Leu Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Val336Leu Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Val35Leu Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Val60Leu Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Val9Leu Uncertain significance Single submitter

Predictors split 141

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

CASQ2 p.Ala100Val Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Ala185Val Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Arg121Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Arg121His Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Arg160Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Arg250His Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Arg251Cys Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 2
CASQ2 p.Arg251His Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Arg253Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Arg253Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Arg293Trp Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 2
CASQ2 p.Asp109Val Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Asp126His Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Asp300Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Asp309Gly Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 2
CASQ2 p.Asp309Val Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 2
CASQ2 p.Asp349Val Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 2
CASQ2 p.Asp351Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Asp379Val Uncertain significance Multiple submitters
cardiomyopathy
CASQ2 p.Asp395Gly Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Asp63Glu Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Gln330Glu Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Glu128Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Glu259Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Glu283Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Glu363Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Glu399Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Glu58Val Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.His244Arg Benign/Likely benign Multiple submitters
Cardiovascular phenotype
CASQ2 p.Ile168Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Ile287Asn Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 2
CASQ2 p.Ile324Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Leu77Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Leu84Phe Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Lys40Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Lys47Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Pro231Leu Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 2
CASQ2 p.Pro231Ser Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 2
CASQ2 p.Pro299Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Pro59Leu Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Pro59Ser Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 2
CASQ2 p.Ser150Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Ser173Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
CASQ2 p.Tyr12Asn Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Tyr217Cys Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 2
CASQ2 p.Tyr28Cys Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 2
CASQ2 p.Tyr49Cys Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Val238Ala Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Val76Met Benign/Likely benign Multiple submitters
Cardiovascular phenotype
CASQ2 p.Val94Ala Uncertain significance Multiple submitters
catecholaminergic polymorphic ventricular tachycardia 2
CASQ2 p.Ala197Ser Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Ala292Ser Conflicting Single submitter
Cardiovascular phenotype
CASQ2 p.Arg121Leu Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Arg246Thr Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Asn295Ser Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Asn298Lys Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Asn298Ser Conflicting Single submitter
Cardiovascular phenotype
CASQ2 p.Asp200Glu Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Asp297Asn Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Asp310Asn Conflicting Single submitter
Cardiovascular phenotype
CASQ2 p.Asp374Val Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 2
CASQ2 p.Asp376Gly Uncertain significance Single submitter
CASQ2 p.Asp378Gly Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Asp379Tyr Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Asp380His Conflicting Single submitter
Cardiovascular phenotype
CASQ2 p.Asp383Gly Conflicting Single submitter
Cardiovascular phenotype
CASQ2 p.Asp383Val Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Asp389Tyr Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 2
CASQ2 p.Asp395His Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Asp396Asn Conflicting Single submitter
progressive familial heart block
CASQ2 p.Asp396Val Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Asp397Gly Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Asp398Asn Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Asp398His Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Gln71Pro Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Glu136Lys Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Glu184Gly Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Glu21Lys Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Glu259Gln Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Glu286Val Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Glu357Asp Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 2
CASQ2 p.Glu357Gln Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Glu387Lys Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Glu399Ala Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Gly22Ala Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.His188Tyr Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.His244Tyr Conflicting Single submitter
Cardiovascular phenotype
CASQ2 p.His269Leu Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.His5Asp Uncertain significance Single submitter
CASQ2 p.Ile11Met Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Ile193Met Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Ile225Thr Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Ile287Ser Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Ile8Thr Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Leu249Val Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Leu37Phe Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Leu6Met Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Leu84Val Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Lys104Thr Uncertain significance Single submitter
CASQ2 p.Lys180Arg Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 2
CASQ2 p.Lys194Thr Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Lys2Glu Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Lys31Glu Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Lys320Thr Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Lys43Arg Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Lys48Asn Likely benign Single submitter
Cardiovascular phenotype
CASQ2 p.Lys68Gln Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Lys97Thr Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Met257Val Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Phe13Ser Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Phe189Leu Conflicting Single submitter
Cardiovascular phenotype
CASQ2 p.Phe216Val Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Phe327Leu Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Phe70Leu Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Pro145Ser Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Pro228Arg Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Pro228Ser Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Pro231Thr Uncertain significance Single submitter
CASQ2 p.Pro254Ser Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Pro279Thr Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Pro299Thr Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Pro308Gln Conflicting Single submitter
Cardiovascular phenotype
CASQ2 p.Pro59Thr Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Ser113Gly Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Ser341Gly Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Thr233Ala Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Thr296Ile Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Thr354Ala Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Thr354Pro Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Thr372Ile Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Thr66Met Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Tyr179His Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Tyr217Phe Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Tyr232His Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Tyr49Ser Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Tyr56Cys Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Val155Gly Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Val241Ala Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Val60Met Uncertain significance Single submitter
Cardiovascular phenotype
CASQ2 p.Val76Ala Uncertain significance Single submitter
catecholaminergic polymorphic ventricular tachycardia 1
CASQ2 p.Glu218Lys Uncertain significance No assertion criteria

All CASQ2 variants

Pathogenic 32

c.320-2A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2
p.Asp340Ter Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Gln67Ter Multiple submitters Cardiovascular phenotype
p.Ser113fs Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2
p.Trp343Ter Multiple submitters Cardiovascular phenotype
c.1014+1G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.421-2A>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.737+2T>A Single submitter catecholaminergic polymorphic ventricular tachycardia 2
p.Gln156Ter Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Gln245Ter Single submitter catecholaminergic polymorphic ventricular tachycardia
p.Gln330Ter Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Gln69Ter Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Gln82Ter Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Glu159Ter Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Glu21fs Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Glu286Ter Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Glu58Ter Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Ile11fs Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Leu139fs Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Leu252fs Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Lys194fs Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Lys68fs Single submitter
p.Met1Ile Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Ser16fs Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Thr198fs Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Trp261fs Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Trp318Ter Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Tyr179Ter Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Tyr282fs Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Tyr282Ter Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Asp307His No assertion criteria catecholaminergic polymorphic ventricular tachycardia 2
p.Leu167His No assertion criteria catecholaminergic polymorphic ventricular tachycardia 2

Pathogenic/Likely pathogenic 19

c.532+1G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2
c.606+1G>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2
c.737+1G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.939+1G>T Multiple submitters Cardiovascular phenotype
c.939+5G>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2
p.Ala88fs Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Arg33Gln Multiple submitters catecholaminergic polymorphic ventricular tachycardia
p.Arg33Ter Multiple submitters Cardiovascular phenotype
p.Asp309fs Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Asp325fs Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Gln71fs Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2
p.Glu239Ter Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Glu39Ter Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2
p.Met1Thr Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Phe182fs Multiple submitters Cardiovascular phenotype
p.Pro308Leu Multiple submitters Cardiovascular phenotype
p.Trp261Ter Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2
p.Tyr192Ter Multiple submitters Cardiovascular phenotype
p.Tyr55Cys Multiple submitters Cardiovascular phenotype ⚠

Likely pathogenic 25

c.235-2A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2
c.319+2T>G Multiple submitters Cardiovascular phenotype
c.420+1G>A Multiple submitters Cardiovascular phenotype
c.533-2A>G Multiple submitters Cardiovascular phenotype
c.606+2T>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.738-1G>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.940-1G>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia
c.319+1G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 2
c.319+1G>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.606+1del Single submitter Cardiovascular phenotype
c.606+1G>T Single submitter Cardiovascular phenotype
c.607-11_607-2del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.607-1G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 2
c.784-1G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.839-1G>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.839-2A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.939+1G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Arg246Ter Single submitter catecholaminergic polymorphic ventricular tachycardia 2
p.Arg3fs Single submitter catecholaminergic polymorphic ventricular tachycardia 2
p.Asp32Asn Single submitter ⚠
p.Asp392fs Single submitter catecholaminergic polymorphic ventricular tachycardia
p.Glu128Ter Single submitter catecholaminergic polymorphic ventricular tachycardia 2
p.Gly90fs Single submitter catecholaminergic polymorphic ventricular tachycardia 2
p.Met1Lys Single submitter catecholaminergic polymorphic ventricular tachycardia 2
p.Trp361Ter Single submitter

Conflicting classifications of pathogenicity 41

c.1015-3C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.234+2T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.421-14G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 2
c.421-15C>G Single submitter catecholaminergic polymorphic ventricular tachycardia 2
c.421-15C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 2
c.533-12T>G Single submitter catecholaminergic polymorphic ventricular tachycardia 2
c.533-6C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 2
c.737+6T>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.784-5T>C Single submitter Cardiovascular phenotype
c.*175T>G Single submitter catecholaminergic polymorphic ventricular tachycardia 2
p.Ala292Ser Single submitter Cardiovascular phenotype ⚠
p.Arg250Cys Single submitter Cardiovascular phenotype ⚠
p.Arg293Pro Single submitter catecholaminergic polymorphic ventricular tachycardia 2 ⚠
p.Asn298Ser Single submitter Cardiovascular phenotype ⚠
p.Asp300Asn Single submitter Cardiovascular phenotype ⚠
p.Asp310Asn Single submitter Cardiovascular phenotype ⚠
p.Asp378Glu Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Asp380His Single submitter Cardiovascular phenotype ⚠
p.Asp383del Single submitter Cardiovascular phenotype
p.Asp383dup Single submitter Cardiovascular phenotype
p.Asp383Gly Single submitter Cardiovascular phenotype ⚠
p.Asp396Asn Single submitter progressive familial heart block ⚠
p.Asp396Glu Single submitter Cardiovascular phenotype ⚠
p.Glu377Asp Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Gly90= Single submitter Cardiovascular phenotype
p.His244Cys Single submitter Cardiovascular phenotype
p.His244Tyr Single submitter Cardiovascular phenotype ⚠
p.Ile161Val Single submitter Cardiovascular phenotype ⚠
p.Ile225Val Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ile270Thr Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ile75= Single submitter Cardiovascular phenotype
p.Leu167= Single submitter Cardiovascular phenotype
p.Leu285= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Leu366Pro Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Lys97Glu Single submitter Cardiovascular phenotype ⚠
p.Phe189Leu Single submitter Cardiovascular phenotype ⚠
p.Pro308Gln Single submitter Cardiovascular phenotype ⚠
p.Thr27Ile Single submitter Cardiovascular phenotype ⚠
p.Thr66= Single submitter cardiomyopathy
p.Tyr282= Single submitter catecholaminergic polymorphic ventricular tachycardia 2
p.Val315Ile Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠

Benign 50

c.234+111C>G Multiple submitters
c.234+29G>A Multiple submitters
c.235-101T>C Multiple submitters
c.235-118C>T Multiple submitters
c.235-149A>G Multiple submitters
c.320-77C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2
c.420+6T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2
c.738-109G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2
c.738-27dup Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.738-5del Multiple submitters cardiomyopathy
c.738-6_738-5del Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.784-17T>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2
c.784-29G>A Multiple submitters
c.784-55A>G Multiple submitters
c.784-89C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2
c.939+23C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2
c.940-193G>A Multiple submitters
c.940-39C>G Multiple submitters
c.940-60G>T Multiple submitters
c.-137T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2
c.-218T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2
c.-21G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2
c.1014+161C>A Single submitter
c.1015-119G>A Single submitter
c.1015-251G>T Single submitter
c.234+10704G>A Single submitter
c.234+10789C>T Single submitter
c.235-301C>T Single submitter
c.319+144G>A Single submitter
c.320-176T>C Single submitter
c.320-250T>C Single submitter
c.320-298A>G Single submitter
c.420+220T>C Single submitter
c.737+282G>T Single submitter
c.738-7T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.738-9_738-5del Single submitter
c.783+280C>T Single submitter
c.939+132G>T Single submitter
c.939+256G>C Single submitter
c.939+256G>T Single submitter
c.939+278C>G Single submitter
c.940-11del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.940-283A>G Single submitter
c.-20A>G Single submitter
c.-221_-220GT[11] Single submitter
c.-221_-220GT[12] Single submitter
c.-380A>G Single submitter
c.-581T>G Single submitter
c.-587G>A Single submitter
p.Thr66Ala Single submitter Cardiovascular phenotype

Benign/Likely benign 22

c.1014+9C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2
c.320-18C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2
c.421-18G>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2
c.421-20A>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.421-7A>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2
c.738-10_738-5del Multiple submitters
c.738-11_738-5del Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.738-12_738-5del Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2
c.738-7_738-5del Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2
c.738-8_738-5del Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2
c.784-17T>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2
c.*138T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2
c.*143G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2
c.*482C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2
c.*632G>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2
p.Asn335= Multiple submitters Cardiovascular phenotype
p.Asp395= Multiple submitters Cardiovascular phenotype
p.Asp398= Multiple submitters Cardiovascular phenotype
p.His244Arg Multiple submitters Cardiovascular phenotype ⚠
p.Ile287= Multiple submitters Cardiovascular phenotype
p.Phe258= Multiple submitters Cardiovascular phenotype
p.Val76Met Multiple submitters Cardiovascular phenotype ⚠

Likely benign 314

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

c.235-80T>C Multiple submitters
c.607-113C>T Multiple submitters
c.607-15T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2
c.607-25T>G Multiple submitters
c.737+19G>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.783+19C>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.-206T>C Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2
c.-22C>T Multiple submitters
p.Ala226= Multiple submitters Cardiovascular phenotype
p.Arg251= Multiple submitters Cardiovascular phenotype
p.Arg293= Multiple submitters Cardiovascular phenotype
p.Asp215= Multiple submitters Cardiovascular phenotype
p.Asp29= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Asp307= Multiple submitters Cardiovascular phenotype
p.Asp309= Multiple submitters Cardiovascular phenotype
p.Asp350= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2
p.Asp380= Multiple submitters Cardiovascular phenotype
p.Asp389= Multiple submitters Cardiovascular phenotype
p.Asp391= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Asp392= Multiple submitters Cardiovascular phenotype
p.Asp396= Multiple submitters Cardiovascular phenotype
p.Asp397= Multiple submitters Cardiovascular phenotype
p.Glu111= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2
p.Glu234= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2
p.Gly119= Multiple submitters Cardiovascular phenotype
p.Gly22= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Ile227= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2
p.Leu141= Multiple submitters Cardiovascular phenotype
p.Leu209= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2
p.Leu301= Multiple submitters Cardiovascular phenotype
p.Leu304= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2
p.Leu314= Multiple submitters Cardiovascular phenotype
p.Leu358= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Lys180= Multiple submitters Cardiovascular phenotype
p.Lys276= Multiple submitters Cardiovascular phenotype
p.Phe158= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Phe7Leu Multiple submitters Cardiovascular phenotype
p.Pro231= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Pro299= Multiple submitters Cardiovascular phenotype
p.Pro308= Multiple submitters Cardiovascular phenotype
p.Pro329= Multiple submitters Cardiovascular phenotype
p.Pro353= Multiple submitters Cardiovascular phenotype
p.Pro59= Multiple submitters Cardiovascular phenotype
p.Ser173= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Thr122= Multiple submitters Cardiovascular phenotype
p.Thr296= Multiple submitters Cardiovascular phenotype
p.Thr337= Multiple submitters Cardiovascular phenotype
p.Tyr164= Multiple submitters Cardiovascular phenotype
p.Val146= Multiple submitters Cardiovascular phenotype
p.Val80= Multiple submitters cardiomyopathy
p.Val83= Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.1014+10C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1014+11C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1014+13T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1014+14G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1014+16G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1014+180G>A Single submitter
c.1014+20G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1014+20G>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1014+20G>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1014+8T>A Single submitter
c.1015-10C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1015-16T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1015-20C>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1015-4G>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1015-6C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.234+13A>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.234+17C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.234+18A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.234+20G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.234+297C>A Single submitter
c.234+8A>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.234+9C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.235-10del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.235-14A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.235-15C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.235-17del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.235-20C>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.235-8T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.319+10A>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.319+11T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.319+16G>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.319+18G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.319+20T>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.319+20T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.319+40C>T Single submitter
c.319+7G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.319+92G>A Single submitter
c.320-10T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.320-11G>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.320-12T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.320-15C>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.320-20G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.320-268G>T Single submitter
c.320-278C>T Single submitter
c.320-7C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.420+14C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.420+16_420+17del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.420+16C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.420+17A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.420+18G>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.420+20G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.420+226T>A Single submitter
c.420+8_420+9insATAAATGC Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.421-14G>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.532+13C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.532+14C>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.532+17C>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.532+17C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.532+7T>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.532+7T>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.532+8G>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.532+9T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.532+9T>G Single submitter
c.533-13T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.533-15del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.533-15T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.533-19T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.533-20A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.533-271C>T Single submitter
c.533-297G>C Single submitter
c.533-5C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.606+12T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.606+13G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.606+16A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.606+18C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.606+7_606+9del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.606+7A>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.607-16T>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.607-17A>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.607-17A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.607-18T>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.607-284A>G Single submitter
c.607-3dup Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.607-5T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.607-6T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.607-7G>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.607-8G>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.607-9T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.737+12G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.737+13G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.737+13G>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.737+15A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.737+16T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.737+17G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.737+17G>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.737+19G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.737+28G>A Single submitter
c.737+7G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.737+8A>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.737+9G>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.738-121C>T Single submitter
c.738-13_738-5dup Single submitter Cardiovascular phenotype
c.738-15_738-5del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.738-16_738-15insC Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.738-16_738-5del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.738-16T>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.738-17_738-5del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.738-19_738-5del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.738-19T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.738-20T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.738-28_738-17del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.738-4C>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.738-6_738-4dup Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.738-8T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.783+116C>A Single submitter
c.783+13C>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.783+14A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.783+17del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.783+256C>G Single submitter
c.783+59T>G Single submitter
c.784-11T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.784-11T>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.784-14_784-12dup Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.784-15A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.784-18del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.784-19T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.784-19T>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.784-247T>A Single submitter
c.784-52C>T Single submitter
c.784-6A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.784-7C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.784-9C>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.838+10C>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.838+10C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.838+16C>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.838+18T>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.838+263_838+266del Single submitter
c.838+275C>T Single submitter
c.838+9C>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.838+9C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.839-10C>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.839-18T>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.839-19C>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.839-2_839-1insCTCTTGAATCCTGTTTCAACA Single submitter Cardiovascular phenotype
c.839-253G>A Single submitter
c.839-8T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.939+12C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.939+13A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.939+190G>A Single submitter
c.939+19C>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.939+19C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.939+20G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.939+20G>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.939+268G>A Single submitter
c.939+8G>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.939+9C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.940-10G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.940-12T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.940-12T>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.940-18A>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.940-19T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.940-7G>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.940-9T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.-221_-220GT[5] Single submitter
c.-30T>C Single submitter
c.-47A>G Single submitter
p.Ala100= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Ala181= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Ala292= Single submitter Cardiovascular phenotype
p.Ala88= Single submitter Cardiovascular phenotype
p.Arg253= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Arg33= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Asn212= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Asn298= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Asn41= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Asp144= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Asp175= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Asp264= Single submitter Cardiovascular phenotype
p.Asp297= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Asp300= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Asp310= Single submitter Cardiovascular phenotype
p.Asp338= Single submitter Cardiovascular phenotype
p.Asp349= Single submitter Cardiovascular phenotype
p.Asp364= Single submitter Cardiovascular phenotype
p.Asp374= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Asp381= Single submitter Cardiovascular phenotype
p.Asp382= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Asp395fs Single submitter
p.Asp398del Single submitter
p.Asp50= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Cys17= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Gln44= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Gln69= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Glu174= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Glu213= Single submitter Cardiovascular phenotype
p.Glu223= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Glu275= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Glu286= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Glu319= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Glu345= Single submitter Cardiovascular phenotype
p.Glu377= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Glu399= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Glu58= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Gly127= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Gly281= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Gly332= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.His188= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.His5= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.His57= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Ile11= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Ile116= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Ile142= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Ile148= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Ile165= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Ile225= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Ile303= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Ile306= Single submitter Cardiovascular phenotype
p.Ile324= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Leu102= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Leu114= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Leu134= Single submitter Cardiovascular phenotype
p.Leu207= Single submitter
p.Leu237= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Leu326= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Leu37= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Leu77= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Lys101= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Lys118= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Lys201= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Lys210= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Lys320= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Lys40= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Lys48Asn Single submitter Cardiovascular phenotype ⚠
p.Lys98= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Phe171= Single submitter Cardiovascular phenotype
p.Phe189= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Phe322= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Phe70= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Pro145= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Pro219= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Pro224= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Pro228= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Pro247= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Pro254= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Pro347= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Ser16= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Ser302= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Ser38= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Thr248= Single submitter

Uncertain significance 328

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

c.234+3A>G Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2
c.320-3C>T Multiple submitters Cardiovascular phenotype
c.-206_-205dup Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.-212_-211insATGTGT Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.-218delinsCGTGCGTGC Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.-219_-218insCGTGTG Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2
c.-222C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2
c.-225G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2
c.-234C>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.*332A>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.*457C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.*503G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
c.*929C>T Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2
p.373EDDD[1] Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Ala100Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala130Val Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2 ⚠
p.Ala157Gly Multiple submitters Cardiovascular phenotype ⚠
p.Ala157Pro Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2 ⚠
p.Ala185Val Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ala226Ser Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Arg121Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg121His Multiple submitters Cardiovascular phenotype ⚠
p.Arg160Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg160His Multiple submitters Cardiovascular phenotype ⚠
p.Arg250His Multiple submitters Cardiovascular phenotype ⚠
p.Arg250Leu Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2 ⚠
p.Arg251Cys Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2 ⚠
p.Arg251His Multiple submitters Cardiovascular phenotype ⚠
p.Arg253Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg253His Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2 ⚠
p.Arg253Ser Multiple submitters Cardiovascular phenotype ⚠
p.Arg293Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg293Trp Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2 ⚠
p.Asp109del Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Asp109Val Multiple submitters Cardiovascular phenotype ⚠
p.Asp126His Multiple submitters Cardiovascular phenotype ⚠
p.Asp132Val Multiple submitters Cardiovascular phenotype ⚠
p.Asp300Gly Multiple submitters Cardiovascular phenotype ⚠
p.Asp309Gly Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2 ⚠
p.Asp309Val Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2 ⚠
p.Asp349Val Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2 ⚠
p.Asp351Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp351del Multiple submitters Cardiovascular phenotype
p.Asp351Gly Multiple submitters Cardiovascular phenotype ⚠
p.Asp376del Multiple submitters Cardiovascular phenotype
p.Asp379Glu Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2 ⚠
p.Asp379Val Multiple submitters cardiomyopathy ⚠
p.Asp395Gly Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Asp63Glu Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Cys53Phe Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Gln330Glu Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Gln69Glu Multiple submitters catecholaminergic polymorphic ventricular tachycardia ⚠
p.Glu128Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu159Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu259Gly Multiple submitters Cardiovascular phenotype ⚠
p.Glu283Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu363Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu377_Asp379del Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1
p.Glu377del Multiple submitters Cardiovascular phenotype
p.Glu399Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu39Gln Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2 ⚠
p.Glu39Lys Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Glu58Lys Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2 ⚠
p.Glu58Val Multiple submitters Cardiovascular phenotype ⚠
p.Gly22Arg Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2 ⚠
p.Gly90Arg Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.His86Arg Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ile11Phe Multiple submitters Cardiovascular phenotype ⚠
p.Ile149Ser Multiple submitters Cardiovascular phenotype ⚠
p.Ile161Leu Multiple submitters Cardiovascular phenotype ⚠
p.Ile161Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile168Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile287Asn Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2 ⚠
p.Ile324Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile89Val Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Leu265Val Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2 ⚠
p.Leu288Val Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Leu77Phe Multiple submitters Cardiovascular phenotype ⚠
p.Leu79Phe Multiple submitters Cardiovascular phenotype ⚠
p.Leu84Phe Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Lys205Asn Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Lys40Glu Multiple submitters Cardiovascular phenotype ⚠
p.Lys47Asn Multiple submitters Cardiovascular phenotype ⚠
p.Met211Ile Multiple submitters Cardiovascular phenotype ⚠
p.Met344Leu Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2 ⚠
p.Met344Lys Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2 ⚠
p.Phe137Leu Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2 ⚠
p.Phe311Leu Multiple submitters Cardiovascular phenotype ⚠
p.Phe91Leu Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2 ⚠
p.Pro231Leu Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2 ⚠
p.Pro231Ser Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2 ⚠
p.Pro247Arg Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Pro247Ser Multiple submitters Cardiovascular phenotype ⚠
p.Pro299Arg Multiple submitters Cardiovascular phenotype ⚠
p.Pro329Ser Multiple submitters Cardiovascular phenotype ⚠
p.Pro59Leu Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Pro59Ser Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2 ⚠
p.Ser113Arg Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ser113Asn Multiple submitters Cardiovascular phenotype ⚠
p.Ser150Ile Multiple submitters Cardiovascular phenotype ⚠
p.Ser15Cys Multiple submitters Cardiovascular phenotype ⚠
p.Ser173Ile Multiple submitters Cardiovascular phenotype ⚠
p.Trp361Arg Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2 ⚠
p.Trp361Ser Multiple submitters Cardiovascular phenotype ⚠
p.Tyr12Asn Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Tyr164Cys Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Tyr178His Multiple submitters cardiomyopathy ⚠
p.Tyr217Cys Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2 ⚠
p.Tyr28Cys Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2 ⚠
p.Tyr28Ser Multiple submitters Cardiovascular phenotype ⚠
p.Tyr49Cys Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Val214Phe Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2 ⚠
p.Val238Ala Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Val336Ile Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2 ⚠
p.Val34Gly Multiple submitters catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Val45Phe Multiple submitters Cardiovascular phenotype ⚠
p.Val94Ala Multiple submitters catecholaminergic polymorphic ventricular tachycardia 2 ⚠
c.1014+3G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 2
c.1015-1G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.1015-6C>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.235-3C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.320-5T>C Single submitter Cardiovascular phenotype
c.420+17A>T Single submitter
c.421-11T>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.532+6T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.607-10A>G Single submitter
c.607-4A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 2
c.737+14C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.738-3C>A Single submitter
c.783+3A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.783+3A>T Single submitter
c.838+5G>A Single submitter Cardiovascular phenotype
c.939+3G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 1
c.-105A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 2
c.-221G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 2
c.-226C>G Single submitter catecholaminergic polymorphic ventricular tachycardia 2
c.-261T>A Single submitter catecholaminergic polymorphic ventricular tachycardia 2
c.*1023A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 2
c.*1052A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 2
c.*1207A>G Single submitter catecholaminergic polymorphic ventricular tachycardia 2
c.*38G>A Single submitter catecholaminergic polymorphic ventricular tachycardia 2
c.*574T>C Single submitter catecholaminergic polymorphic ventricular tachycardia 2
c.*636G>C Single submitter catecholaminergic polymorphic ventricular tachycardia 2
c.*655C>T Single submitter catecholaminergic polymorphic ventricular tachycardia 2
p.Ala157Thr Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ala181Pro Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ala197Ser Single submitter Cardiovascular phenotype ⚠
p.Ala316Thr Single submitter Cardiovascular phenotype ⚠
p.Ala339Pro Single submitter Cardiovascular phenotype ⚠
p.Ala81Thr Single submitter catecholaminergic polymorphic ventricular tachycardia 2 ⚠
p.Ala81Val Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ala96Gly Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ala96Thr Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Arg121Leu Single submitter Cardiovascular phenotype ⚠
p.Arg160Leu Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Arg160Ser Single submitter Cardiovascular phenotype ⚠
p.Arg246Thr Single submitter Cardiovascular phenotype ⚠
p.Arg253Leu Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Arg253Pro Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Arg33Leu Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Arg3Ile Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Asn229Lys Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Asn295Ser Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Asn298Lys Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Asn384Asp Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Asn390Asp Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Asp163Asn Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Asp200Glu Single submitter Cardiovascular phenotype ⚠
p.Asp297Asn Single submitter Cardiovascular phenotype ⚠
p.Asp300dup Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Asp307Asn Single submitter Cardiovascular phenotype ⚠
p.Asp307Glu Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Asp351His Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Asp364fs Single submitter
p.Asp374Asn Single submitter catecholaminergic polymorphic ventricular tachycardia 2 ⚠
p.Asp374Gly Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Asp374Val Single submitter catecholaminergic polymorphic ventricular tachycardia 2 ⚠
p.Asp376Gly Single submitter ⚠
p.Asp378Gly Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Asp379Tyr Single submitter Cardiovascular phenotype ⚠
p.Asp381_Asp383del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Asp382_Asp383del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Asp383Glu Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Asp383Val Single submitter Cardiovascular phenotype ⚠
p.Asp389Tyr Single submitter catecholaminergic polymorphic ventricular tachycardia 2 ⚠
p.Asp392del Single submitter
p.Asp395His Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Asp396Val Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Asp397_Ter400delinsXaa Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Asp397Gly Single submitter Cardiovascular phenotype ⚠
p.Asp398Asn Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Asp398dup Single submitter
p.Asp398His Single submitter Cardiovascular phenotype ⚠
p.Cys53Tyr Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Gln156_Glu159del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Gln71Pro Single submitter Cardiovascular phenotype ⚠
p.Glu136Lys Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Glu147Gly Single submitter Cardiovascular phenotype ⚠
p.Glu162Lys Single submitter Cardiovascular phenotype ⚠
p.Glu184Gly Single submitter Cardiovascular phenotype ⚠
p.Glu184Lys Single submitter Cardiovascular phenotype ⚠
p.Glu20Ter Single submitter
p.Glu21Lys Single submitter Cardiovascular phenotype ⚠
p.Glu235Asp Single submitter catecholaminergic polymorphic ventricular tachycardia 2 ⚠
p.Glu239Asp Single submitter Cardiovascular phenotype ⚠
p.Glu259Gln Single submitter Cardiovascular phenotype ⚠
p.Glu262Lys Single submitter Cardiovascular phenotype ⚠
p.Glu275Gln Single submitter Cardiovascular phenotype ⚠
p.Glu275Val Single submitter cardiomyopathy ⚠
p.Glu286Val Single submitter Cardiovascular phenotype ⚠
p.Glu357Asp Single submitter catecholaminergic polymorphic ventricular tachycardia 2 ⚠
p.Glu357Gln Single submitter Cardiovascular phenotype ⚠
p.Glu387Lys Single submitter Cardiovascular phenotype ⚠
p.Glu399Ala Single submitter Cardiovascular phenotype ⚠
p.Gly112Glu Single submitter ⚠
p.Gly119Asp Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Gly127Asp Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Gly202= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Gly22Ala Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Gly368Arg Single submitter Cardiovascular phenotype ⚠
p.His188Tyr Single submitter Cardiovascular phenotype ⚠
p.His269Leu Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.His5Asp Single submitter ⚠
p.His86Gln Single submitter Cardiovascular phenotype ⚠
p.Ile11Met Single submitter Cardiovascular phenotype ⚠
p.Ile123Leu Single submitter Cardiovascular phenotype ⚠
p.Ile165Val Single submitter Cardiovascular phenotype ⚠
p.Ile193Met Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ile193Ser Single submitter Cardiovascular phenotype ⚠
p.Ile225Thr Single submitter Cardiovascular phenotype ⚠
p.Ile268Val Single submitter ⚠
p.Ile270Leu Single submitter Cardiovascular phenotype ⚠
p.Ile270Phe Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ile270Val Single submitter Cardiovascular phenotype ⚠
p.Ile287Ser Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ile331Thr Single submitter ⚠
p.Ile362Leu Single submitter Cardiovascular phenotype ⚠
p.Ile362Thr Single submitter ⚠
p.Ile8Thr Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ile8Val Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Leu102His Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Leu134Trp Single submitter Cardiovascular phenotype ⚠
p.Leu141Arg Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Leu249Val Single submitter Cardiovascular phenotype ⚠
p.Leu313Val Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Leu37Phe Single submitter Cardiovascular phenotype ⚠
p.Leu6del Single submitter
p.Leu6Met Single submitter Cardiovascular phenotype ⚠
p.Leu72Met Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Leu84Val Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Lys104Thr Single submitter ⚠
p.Lys166Asn Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Lys180Arg Single submitter catecholaminergic polymorphic ventricular tachycardia 2 ⚠
p.Lys180Gln Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Lys194Thr Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Lys289Glu Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Lys2Arg Single submitter cardiomyopathy ⚠
p.Lys2Glu Single submitter Cardiovascular phenotype ⚠
p.Lys31Glu Single submitter Cardiovascular phenotype ⚠
p.Lys320del Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Lys320Thr Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Lys323Arg Single submitter Cardiovascular phenotype ⚠
p.Lys43Arg Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Lys68Gln Single submitter Cardiovascular phenotype ⚠
p.Lys97Thr Single submitter Cardiovascular phenotype ⚠
p.Lys98Glu Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Met211Thr Single submitter Cardiovascular phenotype ⚠
p.Met211Val Single submitter Cardiovascular phenotype ⚠
p.Met221Ile Single submitter Cardiovascular phenotype ⚠
p.Met221Val Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Met257Val Single submitter Cardiovascular phenotype ⚠
p.Met93Ile Single submitter Cardiovascular phenotype ⚠
p.Met93Thr Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Met93Val Single submitter Cardiovascular phenotype ⚠
p.Phe13Ser Single submitter Cardiovascular phenotype ⚠
p.Phe195Leu Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Phe216Val Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Phe311Cys Single submitter Cardiovascular phenotype ⚠
p.Phe327Leu Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Phe70Leu Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Pro145Ser Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Pro224Ser Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Pro228Arg Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Pro228Ser Single submitter Cardiovascular phenotype ⚠
p.Pro231Thr Single submitter ⚠
p.Pro254Ser Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Pro279= Single submitter catecholaminergic polymorphic ventricular tachycardia 1
p.Pro279Thr Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Pro299Thr Single submitter Cardiovascular phenotype ⚠
p.Pro329Thr Single submitter Cardiovascular phenotype ⚠
p.Pro59Thr Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ser113Gly Single submitter Cardiovascular phenotype ⚠
p.Ser150Asn Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ser151Asn Single submitter Cardiovascular phenotype ⚠
p.Ser302Thr Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ser341Gly Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Ser36Asn Single submitter Cardiovascular phenotype ⚠
p.Thr233Ala Single submitter catecholaminergic polymorphic ventricular tachycardia 1 ⚠
p.Thr296Ile Single submitter Cardiovascular phenotype ⚠
p.Thr354Ala Single submitter Cardiovascular phenotype ⚠