CAV3 — 362 ClinVar variants

All ClinVar germline CAV3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 158 flagged for review →

14 Pathogenic · 2 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 34 Conflicting · 34 Benign · 22 Benign/Likely benign · 77 Likely benign · 171 Uncertain significance

Full CAV3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 158

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.

CAV3 p.Ile13Phe Likely pathogenic No assertion criteria
long QT syndrome
CAV3 p.Val14Leu Pathogenic No assertion criteria
long QT syndrome 9

Predictors agree, ClinVar conflicts 12

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

CAV3 p.Ala11Val Conflicting Single submitter
Cardiovascular phenotype
CAV3 p.Ala93Thr Conflicting Single submitter
Elevated circulating creatine kinase activity
CAV3 p.Arg148Gln Conflicting Single submitter
Cardiovascular phenotype
CAV3 p.Arg27Pro Conflicting Single submitter
CAV3-related disorder
CAV3 p.Cys72Trp Conflicting Single submitter
Cardiovascular phenotype
CAV3 p.Glu10Lys Conflicting Single submitter
Cardiovascular phenotype
CAV3 p.Trp101Arg Conflicting Single submitter
long QT syndrome
CAV3 p.Trp101Cys Conflicting Single submitter
long QT syndrome
CAV3 p.Val14Ile Conflicting Single submitter
Cardiovascular phenotype
CAV3 p.Val151Ile Conflicting Single submitter
Cardiovascular phenotype
CAV3 p.Val57Met Conflicting Single submitter
Cardiovascular phenotype
CAV3 p.Val82Ile Conflicting Single submitter
Cardiovascular phenotype

Predictors lean, ClinVar uncertain 88

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

CAV3 p.Ala134Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
CAV3 p.Ala134Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
CAV3 p.Ala134Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
CAV3 p.Ala134Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
CAV3 p.Ala85Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
CAV3 p.Arg126His Uncertain significance Multiple submitters
CAV3-related disorder
CAV3 p.Arg74His Uncertain significance Multiple submitters
cardiomyopathy
CAV3 p.Asp16Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
CAV3 p.Asp43Val Uncertain significance Multiple submitters
long QT syndrome
CAV3 p.Cys19Arg Uncertain significance Multiple submitters
long QT syndrome
CAV3 p.Gln12Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
CAV3 p.Gln138Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
CAV3 p.Glu113Lys Uncertain significance Multiple submitters
long QT syndrome
CAV3 p.Gly81Ser Uncertain significance Multiple submitters
long QT syndrome
CAV3 p.Gly89Asp Uncertain significance Multiple submitters
long QT syndrome
CAV3 p.Gly89Val Uncertain significance Multiple submitters
long QT syndrome
CAV3 p.His6Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
CAV3 p.Ile22Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
CAV3 p.Ile45Asn Uncertain significance Multiple submitters
Elevated circulating creatine kinase activity
CAV3 p.Ile95Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
CAV3 p.Leu123Pro Uncertain significance Multiple submitters
long QT syndrome
CAV3 p.Leu87Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
CAV3 p.Leu91Pro Uncertain significance Multiple submitters
long QT syndrome
CAV3 p.Lys144Arg Uncertain significance Multiple submitters
long QT syndrome
CAV3 p.Lys30Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
CAV3 p.Phe133Leu Uncertain significance Multiple submitters
long QT syndrome
CAV3 p.Phe54Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
CAV3 p.Phe65Ser Uncertain significance Multiple submitters
long QT syndrome
CAV3 p.Phe97Val Uncertain significance Multiple submitters
long QT syndrome
CAV3 p.Pro48Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
CAV3 p.Pro83Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
CAV3 p.Ser53Arg Uncertain significance Multiple submitters
long QT syndrome
CAV3 p.Ser61Asn Uncertain significance Multiple submitters
rippling muscle disease 2
CAV3 p.Ser77Phe Uncertain significance Multiple submitters
long QT syndrome
CAV3 p.Thr63Ile Uncertain significance Multiple submitters
long QT syndrome
CAV3 p.Val37Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
CAV3 p.Val37Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
CAV3 p.Val44Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
CAV3 p.Val44Met Uncertain significance Multiple submitters
Cardiovascular phenotype
CAV3 p.Ala85Asp Uncertain significance Single submitter
long QT syndrome
CAV3 p.Arg74Cys Uncertain significance Single submitter
long QT syndrome
CAV3 p.Arg74Gly Uncertain significance Single submitter
long QT syndrome
CAV3 p.Asp55Asn Uncertain significance Single submitter
long QT syndrome
CAV3 p.Asp55Gly Uncertain significance Single submitter
Cardiovascular phenotype
CAV3 p.Asp8Asn Uncertain significance Single submitter
long QT syndrome 9
CAV3 p.Cys106Arg Uncertain significance Single submitter
Cardiovascular phenotype
CAV3 p.Cys116Arg Uncertain significance Single submitter
CAV3 p.Cys124Arg Uncertain significance Single submitter
long QT syndrome
CAV3 p.Cys124Trp Uncertain significance Single submitter
Cardiovascular phenotype
CAV3 p.Cys140Tyr Uncertain significance Single submitter
long QT syndrome
CAV3 p.Cys19Tyr Uncertain significance Single submitter
long QT syndrome
CAV3 p.Cys72Tyr Uncertain significance Single submitter
long QT syndrome
CAV3 p.Glu21Asp Uncertain significance Single submitter
Cardiovascular phenotype
CAV3 p.Glu47Gly Uncertain significance Single submitter
long QT syndrome
CAV3 p.Glu47Lys Uncertain significance Single submitter
rippling muscle disease 2
CAV3 p.Gly81Val Uncertain significance Single submitter
long QT syndrome
CAV3 p.His6Arg Uncertain significance Single submitter
Cardiovascular phenotype
CAV3 p.Ile112Ser Uncertain significance Single submitter
Cardiovascular phenotype
CAV3 p.Ile112Thr Uncertain significance Single submitter
long QT syndrome
CAV3 p.Ile13Val Uncertain significance Single submitter
Cardiovascular phenotype
CAV3 p.Ile17Thr Uncertain significance Single submitter
long QT syndrome
CAV3 p.Ile32Thr Uncertain significance Single submitter
Cardiovascular phenotype
CAV3 p.Leu136Pro Uncertain significance Single submitter
long QT syndrome
CAV3 p.Leu147Val Uncertain significance Single submitter
Cardiovascular phenotype
CAV3 p.Leu24Pro Uncertain significance Single submitter
long QT syndrome
CAV3 p.Leu76Ser Uncertain significance Single submitter
CAV3 p.Leu79Arg Uncertain significance Single submitter
long QT syndrome
CAV3 p.Leu86Gln Uncertain significance Single submitter
long QT syndrome
CAV3 p.Leu87Phe Uncertain significance Single submitter
caveolinopathy
CAV3 p.Leu91Val Uncertain significance Single submitter
long QT syndrome
CAV3 p.Lys30Gln Uncertain significance Single submitter
long QT syndrome
CAV3 p.Lys59Asn Uncertain significance Single submitter
long QT syndrome
CAV3 p.Lys69Thr Uncertain significance Single submitter
long QT syndrome
CAV3 p.Phe90Ser Uncertain significance Single submitter
CAV3 p.Pro105Ser Uncertain significance Single submitter
Cardiovascular phenotype
CAV3 p.Pro131Thr Uncertain significance Single submitter
cardiomyopathy
CAV3 p.Pro29His Uncertain significance Single submitter
long QT syndrome
CAV3 p.Pro29Leu Uncertain significance Single submitter
long QT syndrome
CAV3 p.Pro29Ser Uncertain significance Single submitter
long QT syndrome
CAV3 p.Ser142Gly Uncertain significance Single submitter
long QT syndrome
CAV3 p.Thr64Asn Uncertain significance Single submitter
long QT syndrome
CAV3 p.Thr7Ala Uncertain significance Single submitter
long QT syndrome
CAV3 p.Trp58Gly Uncertain significance Single submitter
long QT syndrome
CAV3 p.Val139Ile Uncertain significance Single submitter
Cardiovascular phenotype
CAV3 p.Val37Ile Uncertain significance Single submitter
CAV3 p.Val39Met Uncertain significance Single submitter
CAV3 p.Val49Ala Uncertain significance Single submitter
long QT syndrome
CAV3 p.Trp101Leu Uncertain significance No assertion criteria
Joubert syndrome 9

Predictors split 56

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

CAV3 p.Ala102Val Uncertain significance Multiple submitters
Cardiovascular phenotype
CAV3 p.Ala93Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
CAV3 p.Arg126Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
CAV3 p.Asp55Glu Uncertain significance Multiple submitters
long QT syndrome
CAV3 p.Glu150Val Uncertain significance Multiple submitters
long QT syndrome
CAV3 p.Glu42Ala Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
CAV3 p.Gly56Ser Benign/Likely benign Multiple submitters
distal myopathy, Tateyama type
CAV3 p.His18Arg Uncertain significance Multiple submitters
long QT syndrome
CAV3 p.Ile107Thr Uncertain significance Multiple submitters
long QT syndrome
CAV3 p.Thr127Asn Uncertain significance Multiple submitters
long QT syndrome
CAV3 p.Thr127Ile Uncertain significance Multiple submitters
long QT syndrome
CAV3 p.Thr51Ile Uncertain significance Multiple submitters
long QT syndrome
CAV3 p.Thr64Ser Uncertain significance Multiple submitters
long QT syndrome
CAV3 p.Val104Leu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
CAV3 p.Val104Met Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
CAV3 p.Val139Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
CAV3 p.Val145Met Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 1
CAV3 p.Ala3Thr Uncertain significance Single submitter
long QT syndrome
CAV3 p.Ala46Val Likely pathogenic Single submitter
rippling muscle disease 2
CAV3 p.Arg148Trp Conflicting Single submitter
cardiomyopathy
CAV3 p.Asn31Ile Uncertain significance Single submitter
CAV3 p.Asn31Tyr Uncertain significance Single submitter
CAV3 p.Asp35His Uncertain significance Single submitter
long QT syndrome
CAV3 p.Asp55Glu Uncertain significance Single submitter
long QT syndrome
CAV3 p.Cys106Phe Uncertain significance Single submitter
long QT syndrome
CAV3 p.Cys124Tyr Uncertain significance Single submitter
long QT syndrome
CAV3 p.Cys140Gly Uncertain significance Single submitter
long QT syndrome
CAV3 p.Cys94Ser Uncertain significance Single submitter
long QT syndrome
CAV3 p.Gln115His Uncertain significance Single submitter
long QT syndrome
CAV3 p.Gln12His Uncertain significance Single submitter
long QT syndrome
CAV3 p.Glu34Lys Conflicting Single submitter
Cardiovascular phenotype
CAV3 p.Glu4Gly Uncertain significance Single submitter
long QT syndrome
CAV3 p.Glu5Asp Uncertain significance Single submitter
CAV3 p.Ile114Met Uncertain significance Single submitter
long QT syndrome
CAV3 p.Ile143Phe Uncertain significance Single submitter
long QT syndrome
CAV3 p.Ile32Phe Uncertain significance Single submitter
CAV3-related disorder
CAV3 p.Ile45Val Uncertain significance Single submitter
long QT syndrome
CAV3 p.Leu111Gln Uncertain significance Single submitter
long QT syndrome
CAV3 p.Leu84Val Uncertain significance Single submitter
long QT syndrome
CAV3 p.Lys144Met Uncertain significance Single submitter
long QT syndrome
CAV3 p.Lys20Asn Uncertain significance Single submitter
Cardiovascular phenotype
CAV3 p.Lys20Gln Uncertain significance Single submitter
long QT syndrome
CAV3 p.Lys20Glu Uncertain significance Single submitter
long QT syndrome
CAV3 p.Met2Thr Uncertain significance Single submitter
long QT syndrome
CAV3 p.Phe54Val Uncertain significance Single submitter
long QT syndrome
CAV3 p.Ser141Asn Uncertain significance Single submitter
Cardiovascular phenotype
CAV3 p.Ser61Thr Uncertain significance Single submitter
long QT syndrome
CAV3 p.Ser96Cys Uncertain significance Single submitter
CAV3 p.Thr78Met Conflicting Single submitter
Cardiovascular phenotype
CAV3 p.Tyr121Asn Uncertain significance Single submitter
Cardiovascular phenotype
CAV3 p.Tyr121His Uncertain significance Single submitter
Cardiovascular phenotype
CAV3 p.Tyr62His Uncertain significance Single submitter
long QT syndrome
CAV3 p.Val146Met Likely benign Single submitter
Cardiovascular phenotype
CAV3 p.Val67Ile Uncertain significance Single submitter
long QT syndrome
CAV3 p.Val82Ala Uncertain significance Single submitter
Cardiovascular phenotype
CAV3 p.Ser141Arg Pathogenic No assertion criteria
long QT syndrome 9

All CAV3 variants

Pathogenic 14

c.114+2T>C Multiple submitters hypertrophic cardiomyopathy 1
p.Arg27Gln Multiple submitters Elevated circulating creatine kinase activity
p.Arg27Gly Single submitter long QT syndrome
p.Arg27Ter Single submitter long QT syndrome
p.Asn33Lys Single submitter long QT syndrome
p.Leu86fs Single submitter long QT syndrome
p.Pro105Leu Single submitter long QT syndrome
p.Thr66fs Single submitter long QT syndrome
p.Trp88Ter Single submitter long QT syndrome
p.Ala85Thr No assertion criteria long QT syndrome 9
p.Asp28Glu No assertion criteria rippling muscle disease 2
p.Ser141Arg No assertion criteria long QT syndrome 9 ⚠
p.Thr64_Thr66del No assertion criteria rippling muscle disease 2
p.Val14Leu No assertion criteria long QT syndrome 9 ⚠

Pathogenic/Likely pathogenic 2

p.Ala46Thr Multiple submitters tubular aggregate myopathy
p.Trp71Ter Multiple submitters long QT syndrome

Likely pathogenic 8

p.Ala46Val Single submitter rippling muscle disease 2 ⚠
p.Asp43Gly Single submitter rippling muscle disease 2
p.Ile100Asn Single submitter hypertrophic cardiomyopathy 1
p.Leu123fs Single submitter
p.Leu84Pro Single submitter
p.Ser53fs Single submitter Abnormality of the musculature
p.Ser61Arg Single submitter CAV3-related disorder
p.Ile13Phe No assertion criteria long QT syndrome ⚠

Conflicting classifications of pathogenicity 34

c.115-1G>T Single submitter long QT syndrome
c.-2C>T Single submitter cardiomyopathy
c.*85C>A Single submitter caveolinopathy
c.*86G>A Single submitter caveolinopathy
p.Ala11Val Single submitter Cardiovascular phenotype ⚠
p.Ala134= Single submitter Cardiovascular phenotype
p.Ala134= Single submitter Cardiovascular phenotype
p.Ala93Thr Single submitter Elevated circulating creatine kinase activity ⚠
p.Arg148Gln Single submitter Cardiovascular phenotype ⚠
p.Arg148Trp Single submitter cardiomyopathy ⚠
p.Arg27Pro Single submitter CAV3-related disorder ⚠
p.Cys19Ter Single submitter Cardiovascular phenotype
p.Cys72Trp Single submitter Cardiovascular phenotype ⚠
p.Glu10Lys Single submitter Cardiovascular phenotype ⚠
p.Glu34Lys Single submitter Cardiovascular phenotype ⚠
p.Glu4fs Single submitter Cardiovascular phenotype
p.Met2fs Single submitter long QT syndrome
p.Phe128= Single submitter cardiomyopathy
p.Phe133= Single submitter Cardiovascular phenotype
p.Phe92= Single submitter Cardiovascular phenotype
p.Thr78= Single submitter Cardiovascular phenotype
p.Thr78Met Single submitter Cardiovascular phenotype ⚠
p.Trp101Arg Single submitter long QT syndrome ⚠
p.Trp101Cys Single submitter long QT syndrome ⚠
p.Tyr110Ter Single submitter hypertrophic cardiomyopathy 1
p.Val104= Single submitter long QT syndrome
p.Val139= Single submitter Cardiovascular phenotype
p.Val14Ile Single submitter Cardiovascular phenotype ⚠
p.Val151Ile Single submitter Cardiovascular phenotype ⚠
p.Val39= Single submitter Cardiovascular phenotype
p.Val44= Single submitter long QT syndrome
p.Val57Met Single submitter Cardiovascular phenotype ⚠
p.Val67= Single submitter Cardiovascular phenotype
p.Val82Ile Single submitter Cardiovascular phenotype ⚠

Benign 34

c.114+26G>A Multiple submitters
c.115-151A>G Multiple submitters
c.115-23G>C Multiple submitters
c.115-89G>T Multiple submitters
c.-184G>T Multiple submitters
c.-33G>T Multiple submitters caveolinopathy
c.-37G>A Multiple submitters caveolinopathy
c.*116C>G Multiple submitters
c.*276C>T Multiple submitters caveolinopathy
c.*340G>A Multiple submitters caveolinopathy
c.*38G>C Multiple submitters caveolinopathy
c.114+155C>A Single submitter
c.114+171C>G Single submitter
c.114+48G>A Single submitter
c.115-3013G>A Single submitter
c.115-315G>C Single submitter
c.115-315G>T Single submitter
c.-15C>A Single submitter
c.-31A>G Single submitter
c.-340C>A Single submitter
c.-410C>T Single submitter
c.-46G>A Single submitter
c.-47C>T Single submitter
c.*208C>T Single submitter
c.*277G>A Single submitter caveolinopathy
c.*291T>C Single submitter
c.*341C>T Single submitter
c.*36G>A Single submitter
c.*569G>A Single submitter caveolinopathy
c.*598G>C Single submitter caveolinopathy
c.*763G>A Single submitter caveolinopathy
c.*788C>A Single submitter caveolinopathy
c.*80G>A Single submitter
c.*813del Single submitter

Benign/Likely benign 22

c.115-13G>C Multiple submitters long QT syndrome
c.115-45_115-29del Multiple submitters
c.115-45C>T Multiple submitters
c.-1G>A Multiple submitters Cardiovascular phenotype
c.*20G>A Multiple submitters caveolinopathy
c.*543T>C Multiple submitters caveolinopathy
c.*645A>T Multiple submitters caveolinopathy
c.*783A>G Multiple submitters caveolinopathy
c.*805C>A Multiple submitters caveolinopathy
c.*811C>G Multiple submitters caveolinopathy
p.Ala102= Multiple submitters Cardiovascular phenotype
p.Arg148= Multiple submitters Cardiovascular phenotype
p.Asn33= Multiple submitters Cardiovascular phenotype
p.Glu10= Multiple submitters Cardiovascular phenotype
p.Gly56= Multiple submitters Cardiovascular phenotype
p.Gly56Ser Multiple submitters distal myopathy, Tateyama type ⚠
p.Ile112= Multiple submitters hypertrophic cardiomyopathy 1
p.Ile13= Multiple submitters Cardiovascular phenotype
p.Phe41= Multiple submitters Cardiovascular phenotype
p.Pro48= Multiple submitters Cardiovascular phenotype
p.Ser68= Multiple submitters Cardiovascular phenotype
p.Val57= Multiple submitters Cardiovascular phenotype

Likely benign 77

c.114+11C>T Multiple submitters long QT syndrome
c.114+17T>G Multiple submitters long QT syndrome
c.114+20C>T Multiple submitters long QT syndrome
c.114+8C>G Multiple submitters long QT syndrome
p.Ala3= Multiple submitters long QT syndrome
p.Asp43= Multiple submitters Cardiovascular phenotype
p.Cys106= Multiple submitters Cardiovascular phenotype
p.Cys124= Multiple submitters long QT syndrome
p.Gly81= Multiple submitters Cardiovascular phenotype
p.His119= Multiple submitters Cardiovascular phenotype
p.His18= Multiple submitters long QT syndrome
p.His99= Multiple submitters Cardiovascular phenotype
p.Ile143= Multiple submitters long QT syndrome
p.Leu76= Multiple submitters Cardiovascular phenotype
p.Leu91= Multiple submitters Cardiovascular phenotype
p.Lys20= Multiple submitters long QT syndrome
p.Lys59= Multiple submitters long QT syndrome
p.Ter152= Multiple submitters long QT syndrome
p.Val145= Multiple submitters Cardiovascular phenotype
p.Val146= Multiple submitters Cardiovascular phenotype
p.Val49= Multiple submitters Cardiovascular phenotype
c.114+15C>T Single submitter long QT syndrome
c.114+16C>T Single submitter long QT syndrome
c.115-16C>T Single submitter
c.115-17C>T Single submitter long QT syndrome
c.115-273T>C Single submitter
c.115-4G>C Single submitter long QT syndrome
c.115-6C>T Single submitter long QT syndrome
c.115-6del Single submitter
c.115-8C>T Single submitter long QT syndrome
c.115-9C>T Single submitter
c.-268C>T Single submitter
c.-29C>T Single submitter
c.-2C>A Single submitter
c.-33G>A Single submitter
c.-343G>A Single submitter
c.-348G>A Single submitter
c.-48C>T Single submitter
c.*123A>G Single submitter
c.*6G>A Single submitter
p.Ala46= Single submitter Cardiovascular phenotype
p.Ala93= Single submitter long QT syndrome
p.Arg74= Single submitter Cardiovascular phenotype
p.Asp16= Single submitter Cardiovascular phenotype
p.Asp35= Single submitter long QT syndrome
p.Asp55= Single submitter long QT syndrome
p.Glu113= Single submitter long QT syndrome
p.Glu21= Single submitter long QT syndrome
p.Glu5= Single submitter Cardiovascular phenotype
p.Gly137= Single submitter Cardiovascular phenotype
p.Gly89= Single submitter long QT syndrome
p.His6= Single submitter Cardiovascular phenotype
p.Ile107= Single submitter Cardiovascular phenotype
p.Ile114= Single submitter long QT syndrome
p.Ile17= Single submitter
p.Ile45= Single submitter long QT syndrome
p.Leu132= Single submitter long QT syndrome
p.Leu136= Single submitter long QT syndrome
p.Leu24= Single submitter
p.Leu86= Single submitter long QT syndrome
p.Leu9= Single submitter long QT syndrome
p.Lys69= Single submitter Cardiovascular phenotype
p.Phe90= Single submitter
p.Pro105= Single submitter Cardiovascular phenotype
p.Ser109= Single submitter long QT syndrome
p.Ser118= Single submitter Cardiovascular phenotype
p.Ser141= Single submitter long QT syndrome
p.Ser142Asn Single submitter Cardiovascular phenotype
p.Ser61= Single submitter long QT syndrome
p.Ser77= Single submitter long QT syndrome
p.Ser96= Single submitter Cardiovascular phenotype
p.Thr51= Single submitter Cardiovascular phenotype
p.Thr64= Single submitter long QT syndrome
p.Thr66= Single submitter long QT syndrome
p.Tyr62= Single submitter long QT syndrome
p.Val146Met Single submitter Cardiovascular phenotype ⚠
p.Val82= Single submitter Cardiovascular phenotype

Uncertain significance 171

c.114+5G>C Multiple submitters Cardiovascular phenotype
c.*134G>A Multiple submitters hypertrophic cardiomyopathy 1
c.*441T>C Multiple submitters hypertrophic cardiomyopathy 1
c.*592G>A Multiple submitters distal myopathy, Tateyama type
c.*658T>A Multiple submitters hypertrophic cardiomyopathy 1
c.*741G>A Multiple submitters distal myopathy, Tateyama type
c.*834A>T Multiple submitters distal myopathy, Tateyama type
c.*852G>A Multiple submitters distal myopathy, Tateyama type
p.Ala102Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala134Glu Multiple submitters Cardiovascular phenotype ⚠
p.Ala134Pro Multiple submitters Cardiovascular phenotype ⚠
p.Ala134Thr Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Ala134Val Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Ala85Val Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Ala93Ser Multiple submitters Cardiovascular phenotype ⚠
p.Arg126Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg126His Multiple submitters CAV3-related disorder ⚠
p.Arg74His Multiple submitters cardiomyopathy ⚠
p.Asp16Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp43_Ala46del Multiple submitters
p.Asp43Val Multiple submitters long QT syndrome ⚠
p.Asp55fs Multiple submitters Cardiovascular phenotype
p.Asp55Glu Multiple submitters long QT syndrome ⚠
p.Cys106fs Multiple submitters long QT syndrome
p.Cys19Arg Multiple submitters long QT syndrome ⚠
p.Cys98Ter Multiple submitters long QT syndrome
p.Gln12Arg Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Gln138Arg Multiple submitters Cardiovascular phenotype ⚠
p.Glu113Lys Multiple submitters long QT syndrome ⚠
p.Glu150Val Multiple submitters long QT syndrome ⚠
p.Glu42Ala Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Gly81Ser Multiple submitters long QT syndrome ⚠
p.Gly89Asp Multiple submitters long QT syndrome ⚠
p.Gly89Val Multiple submitters long QT syndrome ⚠
p.His18Arg Multiple submitters long QT syndrome ⚠
p.His6Leu Multiple submitters Cardiovascular phenotype ⚠
p.Ile107Thr Multiple submitters long QT syndrome ⚠
p.Ile22Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile45Asn Multiple submitters Elevated circulating creatine kinase activity ⚠
p.Ile95Asn Multiple submitters Cardiovascular phenotype ⚠
p.Leu123Pro Multiple submitters long QT syndrome ⚠
p.Leu87Pro Multiple submitters Cardiovascular phenotype ⚠
p.Leu91Pro Multiple submitters long QT syndrome ⚠
p.Lys144Arg Multiple submitters long QT syndrome ⚠
p.Lys30Arg Multiple submitters Cardiovascular phenotype ⚠
p.Lys30Ter Multiple submitters Cardiovascular phenotype
p.Phe133Leu Multiple submitters long QT syndrome ⚠
p.Phe54Leu Multiple submitters Cardiovascular phenotype ⚠
p.Phe65Ser Multiple submitters long QT syndrome ⚠
p.Phe97del Multiple submitters caveolinopathy
p.Phe97Val Multiple submitters long QT syndrome ⚠
p.Pro48Arg Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Pro83Ser Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Ser53Arg Multiple submitters long QT syndrome ⚠
p.Ser61Asn Multiple submitters rippling muscle disease 2 ⚠
p.Ser77Phe Multiple submitters long QT syndrome ⚠
p.Ter152LysextTer? Multiple submitters long QT syndrome
p.Thr127Asn Multiple submitters long QT syndrome ⚠
p.Thr127Ile Multiple submitters long QT syndrome ⚠
p.Thr51Ile Multiple submitters long QT syndrome ⚠
p.Thr63Ile Multiple submitters long QT syndrome ⚠
p.Thr64Ser Multiple submitters long QT syndrome ⚠
p.Val104Leu Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Val104Met Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Val139Ala Multiple submitters Cardiovascular phenotype ⚠
p.Val145Met Multiple submitters hypertrophic cardiomyopathy 1 ⚠
p.Val37Ala Multiple submitters Cardiovascular phenotype ⚠
p.Val37Leu Multiple submitters Cardiovascular phenotype ⚠
p.Val44Ala Multiple submitters Cardiovascular phenotype ⚠
p.Val44Met Multiple submitters Cardiovascular phenotype ⚠
c.114+3A>G Single submitter long QT syndrome
c.115-1G>A Single submitter cardiomyopathy
c.115-2A>T Single submitter long QT syndrome
c.*13C>A Single submitter caveolinopathy
c.*193T>C Single submitter caveolinopathy
c.*19C>T Single submitter
c.*312G>A Single submitter caveolinopathy
c.*433C>T Single submitter caveolinopathy
c.*435T>A Single submitter caveolinopathy
c.*440G>A Single submitter caveolinopathy
c.*467T>C Single submitter caveolinopathy
c.*722G>A Single submitter caveolinopathy
c.*853T>C Single submitter caveolinopathy
p.Ala3Thr Single submitter long QT syndrome ⚠
p.Ala85Asp Single submitter long QT syndrome ⚠
p.Arg74Cys Single submitter long QT syndrome ⚠
p.Arg74Gly Single submitter long QT syndrome ⚠
p.Asn31Ile Single submitter ⚠
p.Asn31Tyr Single submitter ⚠
p.Asp35His Single submitter long QT syndrome ⚠
p.Asp55Asn Single submitter long QT syndrome ⚠
p.Asp55Glu Single submitter long QT syndrome ⚠
p.Asp55Gly Single submitter Cardiovascular phenotype ⚠
p.Asp8Asn Single submitter long QT syndrome 9 ⚠
p.Cys106Arg Single submitter Cardiovascular phenotype ⚠
p.Cys106Phe Single submitter long QT syndrome ⚠
p.Cys116Arg Single submitter ⚠
p.Cys124Arg Single submitter long QT syndrome ⚠
p.Cys124Trp Single submitter Cardiovascular phenotype ⚠
p.Cys124Tyr Single submitter long QT syndrome ⚠
p.Cys140Gly Single submitter long QT syndrome ⚠
p.Cys140Tyr Single submitter long QT syndrome ⚠
p.Cys19Tyr Single submitter long QT syndrome ⚠
p.Cys72Tyr Single submitter long QT syndrome ⚠
p.Cys94Ser Single submitter long QT syndrome ⚠
p.Gln115His Single submitter long QT syndrome ⚠
p.Gln12His Single submitter long QT syndrome ⚠
p.Glu113_Gln115dup Single submitter long QT syndrome
p.Glu150del Single submitter long QT syndrome 9
p.Glu21Asp Single submitter Cardiovascular phenotype ⚠
p.Glu34del Single submitter
p.Glu42Lys Single submitter long QT syndrome
p.Glu47Gly Single submitter long QT syndrome ⚠
p.Glu47Lys Single submitter rippling muscle disease 2 ⚠
p.Glu4Gly Single submitter long QT syndrome ⚠
p.Glu5Asp Single submitter ⚠
p.Gly81Val Single submitter long QT syndrome ⚠
p.His6Arg Single submitter Cardiovascular phenotype ⚠
p.Ile112Ser Single submitter Cardiovascular phenotype ⚠
p.Ile112Thr Single submitter long QT syndrome ⚠
p.Ile114Met Single submitter long QT syndrome ⚠
p.Ile13Val Single submitter Cardiovascular phenotype ⚠
p.Ile143Phe Single submitter long QT syndrome ⚠
p.Ile17Thr Single submitter long QT syndrome ⚠
p.Ile32Phe Single submitter CAV3-related disorder ⚠
p.Ile32Thr Single submitter Cardiovascular phenotype ⚠
p.Ile45Val Single submitter long QT syndrome ⚠
p.Leu111Gln Single submitter long QT syndrome ⚠
p.Leu136Pro Single submitter long QT syndrome ⚠
p.Leu147Val Single submitter Cardiovascular phenotype ⚠
p.Leu24_Asp28del Single submitter long QT syndrome
p.Leu24Pro Single submitter long QT syndrome ⚠
p.Leu76Ser Single submitter ⚠
p.Leu79Arg Single submitter long QT syndrome ⚠
p.Leu84Val Single submitter long QT syndrome ⚠
p.Leu86Gln Single submitter long QT syndrome ⚠
p.Leu87Phe Single submitter caveolinopathy ⚠
p.Leu91Val Single submitter long QT syndrome ⚠
p.Lys144Met Single submitter long QT syndrome ⚠
p.Lys20Asn Single submitter Cardiovascular phenotype ⚠
p.Lys20Gln Single submitter long QT syndrome ⚠
p.Lys20Glu Single submitter long QT syndrome ⚠
p.Lys30Gln Single submitter long QT syndrome ⚠
p.Lys59Asn Single submitter long QT syndrome ⚠
p.Lys69Thr Single submitter long QT syndrome ⚠
p.Met1Thr Single submitter Cardiovascular phenotype
p.Met2Thr Single submitter long QT syndrome ⚠
p.Phe54Val Single submitter long QT syndrome ⚠
p.Phe90Ser Single submitter ⚠
p.Pro105Ser Single submitter Cardiovascular phenotype ⚠
p.Pro131Thr Single submitter cardiomyopathy ⚠
p.Pro29His Single submitter long QT syndrome ⚠
p.Pro29Leu Single submitter long QT syndrome ⚠
p.Pro29Ser Single submitter long QT syndrome ⚠
p.Ser141Asn Single submitter Cardiovascular phenotype ⚠
p.Ser142Gly Single submitter long QT syndrome ⚠
p.Ser61Thr Single submitter long QT syndrome ⚠
p.Ser96Cys Single submitter ⚠
p.Thr64Asn Single submitter long QT syndrome ⚠
p.Thr7Ala Single submitter long QT syndrome ⚠
p.Trp58Gly Single submitter long QT syndrome ⚠
p.Tyr121Asn Single submitter Cardiovascular phenotype ⚠
p.Tyr121His Single submitter Cardiovascular phenotype ⚠
p.Tyr62His Single submitter long QT syndrome ⚠
p.Val139Ile Single submitter Cardiovascular phenotype ⚠
p.Val37Ile Single submitter ⚠
p.Val39Met Single submitter ⚠
p.Val49Ala Single submitter long QT syndrome ⚠
p.Val67Ile Single submitter long QT syndrome ⚠
p.Val82Ala Single submitter Cardiovascular phenotype ⚠
p.Trp101Leu No assertion criteria Joubert syndrome 9 ⚠