KCNJ8 — 270 ClinVar variants
All ClinVar germline KCNJ8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 128 flagged for review →
2 Likely pathogenic · 7 Conflicting · 12 Benign · 6 Benign/Likely benign · 106 Likely benign · 137 Uncertain significance
Full KCNJ8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 128
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 agree, ClinVar conflicts 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
KCNJ8 p.Ala88Gly
Conflicting
Single submitter
long QT syndrome
-
KCNJ8 p.Glu111Gly
Conflicting
Single submitter
Brugada syndrome
-
KCNJ8 p.Thr118Ala
Conflicting
Single submitter
Brugada syndrome
-
KCNJ8 p.Val346Ile
Conflicting
Single submitter
Brugada syndrome
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.
-
KCNJ8 p.Arg274Cys
Uncertain significance
Multiple submitters
Brugada syndrome
-
KCNJ8 p.Arg274His
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
KCNJ8 p.Arg28Pro
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
KCNJ8 p.Arg30Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
KCNJ8 p.Arg352Gln
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
KCNJ8 p.Arg352Trp
Uncertain significance
Multiple submitters
Brugada syndrome
-
KCNJ8 p.Arg356Gln
Uncertain significance
Multiple submitters
Brugada syndrome
-
KCNJ8 p.Arg399Gln
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
KCNJ8 p.Asn389Ser
Uncertain significance
Multiple submitters
Brugada syndrome
-
KCNJ8 p.Asn402Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
KCNJ8 p.Gln411Pro
Uncertain significance
Multiple submitters
Brugada syndrome
-
KCNJ8 p.Glu255Asp
Uncertain significance
Multiple submitters
Brugada syndrome
-
KCNJ8 p.Glu357Gly
Uncertain significance
Multiple submitters
Brugada syndrome
-
KCNJ8 p.Gly109Arg
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
KCNJ8 p.Ile254Val
Uncertain significance
Multiple submitters
Brugada syndrome
-
KCNJ8 p.Ile314Thr
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
KCNJ8 p.Ile89Val
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
KCNJ8 p.Leu2Phe
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
KCNJ8 p.Lys33Arg
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
KCNJ8 p.Lys382Arg
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
KCNJ8 p.Pro253Thr
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
KCNJ8 p.Thr118Ile
Uncertain significance
Multiple submitters
Brugada syndrome
-
KCNJ8 p.Thr118Ser
Uncertain significance
Multiple submitters
Brugada syndrome
-
KCNJ8 p.Thr234Ile
Uncertain significance
Multiple submitters
Brugada syndrome
-
KCNJ8 p.Thr283Ile
Uncertain significance
Multiple submitters
Brugada syndrome
-
KCNJ8 p.Val201Ile
Uncertain significance
Multiple submitters
Cardiovascular phenotype
- KCNJ8 p.Ala103Gly Uncertain significance Single submitter
-
KCNJ8 p.Ala15Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Ala18Val
Uncertain significance
Single submitter
Brugada syndrome
-
KCNJ8 p.Ala19Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Ala19Thr
Uncertain significance
Single submitter
Brugada syndrome
-
KCNJ8 p.Ala349Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Ala38Ser
Uncertain significance
Single submitter
Brugada syndrome
-
KCNJ8 p.Ala97Asp
Uncertain significance
Single submitter
Brugada syndrome
-
KCNJ8 p.Ala97Pro
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Arg16His
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Arg195Cys
Uncertain significance
Single submitter
Brugada syndrome
-
KCNJ8 p.Arg195His
Uncertain significance
Single submitter
Brugada syndrome
-
KCNJ8 p.Arg26Cys
Uncertain significance
Single submitter
Brugada syndrome
-
KCNJ8 p.Arg30His
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Arg323Cys
Uncertain significance
Single submitter
Brugada syndrome
-
KCNJ8 p.Arg323His
Uncertain significance
Single submitter
Brugada syndrome
-
KCNJ8 p.Arg352Leu
Uncertain significance
Single submitter
Brugada syndrome
-
KCNJ8 p.Arg35Gly
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Asn390Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Asp251Glu
Uncertain significance
Single submitter
Brugada syndrome
-
KCNJ8 p.Asp284Glu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Asp289Glu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Asp359Glu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Cys207Phe
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Gln319Leu
Uncertain significance
Single submitter
Brugada syndrome
-
KCNJ8 p.Glu151Gln
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Glu423Asp
Uncertain significance
Single submitter
Cardiovascular phenotype
- KCNJ8 p.Gly142Glu Uncertain significance Single submitter
-
KCNJ8 p.Gly417Arg
Uncertain significance
Single submitter
Brugada syndrome
-
KCNJ8 p.Gly41Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Gly41Glu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Ile17Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Ile243Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Ile271Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Ile280Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Ile314Met
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Ile318Ser
Uncertain significance
Single submitter
Brugada syndrome
-
KCNJ8 p.Leu246Met
Uncertain significance
Single submitter
Brugada syndrome
-
KCNJ8 p.Leu405Phe
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Leu405Pro
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Lys112Ile
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Lys180Glu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Met110Leu
Uncertain significance
Single submitter
Brugada syndrome
-
KCNJ8 p.Met110Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Met148Ile
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Met148Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Met386Leu
Uncertain significance
Single submitter
Brugada syndrome
-
KCNJ8 p.Met392Ile
Uncertain significance
Single submitter
Brugada syndrome
-
KCNJ8 p.Met392Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Met406Ile
Uncertain significance
Single submitter
Brugada syndrome
-
KCNJ8 p.Met406Leu
Uncertain significance
Single submitter
Brugada syndrome
-
KCNJ8 p.Met406Thr
Uncertain significance
Single submitter
Brugada syndrome
- KCNJ8 p.Met413Thr Uncertain significance Single submitter
-
KCNJ8 p.Met78Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Pro32Ser
Uncertain significance
Single submitter
Brugada syndrome
-
KCNJ8 p.Ser222Gly
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Ser391Pro
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Ser40Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Val13Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Val229Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Val292Ile
Uncertain significance
Single submitter
Cardiovascular phenotype
- KCNJ8 p.Val65Met Uncertain significance No assertion criteria
Predictors split 36
The independent predictors disagree with each other — read with care.
-
KCNJ8 p.Arg226Cys
Uncertain significance
Multiple submitters
Brugada syndrome
-
KCNJ8 p.Arg30Cys
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
KCNJ8 p.Arg394Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
KCNJ8 p.Ile327Thr
Uncertain significance
Multiple submitters
Brugada syndrome
-
KCNJ8 p.Pro153Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
KCNJ8 p.Val240Ala
Uncertain significance
Multiple submitters
Brugada syndrome
-
KCNJ8 p.Val270Met
Uncertain significance
Multiple submitters
Brugada syndrome
-
KCNJ8 p.Ala263Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Ala46Gly
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Ala95Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
- KCNJ8 p.Arg146Lys Uncertain significance Single submitter
-
KCNJ8 p.Arg211Gln
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Arg226His
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Arg383His
Uncertain significance
Single submitter
Brugada syndrome
-
KCNJ8 p.Arg51Pro
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Asn258Tyr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Asn44Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Cys268Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.His196Tyr
Uncertain significance
Single submitter
Brugada syndrome
-
KCNJ8 p.Ile141Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Ile221Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Ile266Thr
Uncertain significance
Single submitter
Brugada syndrome
-
KCNJ8 p.Ile305Asn
Uncertain significance
Single submitter
Brugada syndrome
-
KCNJ8 p.Ile318Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Leu64Phe
Uncertain significance
Single submitter
Brugada syndrome
-
KCNJ8 p.Phe127Leu
Uncertain significance
Single submitter
Brugada syndrome
-
KCNJ8 p.Phe260Leu
Uncertain significance
Single submitter
Brugada syndrome
-
KCNJ8 p.Phe412Leu
Uncertain significance
Single submitter
Brugada syndrome
-
KCNJ8 p.Phe96Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Pro236Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Pro9Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Ser375Phe
Uncertain significance
Single submitter
Brugada syndrome
-
KCNJ8 p.Ser403Phe
Uncertain significance
Single submitter
Cardiovascular phenotype
-
KCNJ8 p.Val212Ala
Uncertain significance
Single submitter
Brugada syndrome
- KCNJ8 p.Cys176Ser Uncertain significance No assertion criteria
- KCNJ8 p.His47Arg Likely pathogenic No assertion criteria
All KCNJ8 variants
Likely pathogenic 2
- p.Gly238Arg Single submitter hypertrichotic osteochondrodysplasia Cantu type
- p.His47Arg No assertion criteria ⚠
Conflicting classifications of pathogenicity 7
- p.Ala46Val Single submitter Brugada syndrome
- p.Ala88Gly Single submitter long QT syndrome ⚠
- p.Glu111Gly Single submitter Brugada syndrome ⚠
- p.Thr118Ala Single submitter Brugada syndrome ⚠
- p.Thr157= Single submitter Cardiovascular phenotype
- p.Val240= Single submitter Cardiovascular phenotype
- p.Val346Ile Single submitter Brugada syndrome ⚠
Benign 12
- c.-66A>T Multiple submitters
- p.Ala97= Multiple submitters Cardiovascular phenotype
- p.Leu265= Multiple submitters Cardiovascular phenotype
- p.Leu285= Multiple submitters Cardiovascular phenotype
- c.-40G>A Single submitter
- c.-70-247_-70-244del Single submitter
- c.-71+196dup Single submitter
- c.-71+214_-71+215del Single submitter
- c.-77G>A Single submitter
- c.*255T>A Single submitter
- c.*3G>A Single submitter
- p.Ile101= Single submitter Brugada syndrome
Benign/Likely benign 6
- p.Ile169= Multiple submitters Brugada syndrome
- p.Ile37= Multiple submitters Cardiovascular phenotype
- p.Leu22= Multiple submitters Cardiovascular phenotype
- p.Ser422Leu Multiple submitters Cardiovascular phenotype
- p.Val299= Multiple submitters Cardiovascular phenotype
- p.Val334Ala Multiple submitters Brugada syndrome
Likely benign 106
- p.Ala155= Multiple submitters Cardiovascular phenotype
- p.Ala197= Multiple submitters Cardiovascular phenotype
- p.Ala200= Multiple submitters Brugada syndrome
- p.Ala46= Multiple submitters Cardiovascular phenotype
- p.Arg216= Multiple submitters Brugada syndrome
- p.Arg323= Multiple submitters Brugada syndrome
- p.Asn44= Multiple submitters Brugada syndrome
- p.Gln245= Multiple submitters Cardiovascular phenotype
- p.Gln319= Multiple submitters Brugada syndrome
- p.Gln419= Multiple submitters Brugada syndrome
- p.His196= Multiple submitters Cardiovascular phenotype
- p.His269= Multiple submitters Cardiovascular phenotype
- p.Ile254= Multiple submitters Cardiovascular phenotype
- p.Leu290= Multiple submitters Brugada syndrome
- p.Leu358= Multiple submitters Brugada syndrome
- p.Lys112= Multiple submitters Cardiovascular phenotype
- p.Lys231= Multiple submitters Brugada syndrome
- p.Lys48= Multiple submitters Brugada syndrome
- p.Ser129= Multiple submitters Brugada syndrome
- p.Ser256= Multiple submitters Brugada syndrome
- p.Ser40= Multiple submitters Cardiovascular phenotype
- p.Ser422= Multiple submitters Cardiovascular phenotype
- p.Ser6= Multiple submitters Brugada syndrome
- p.Thr63= Multiple submitters Cardiovascular phenotype
- p.Tyr102= Multiple submitters Cardiovascular phenotype
- p.Val198= Multiple submitters Cardiovascular phenotype
- p.Val328= Multiple submitters Brugada syndrome
- p.Pro9= Single submitter Cardiovascular phenotype
- c.374+8T>C Single submitter Brugada syndrome
- c.375-11A>C Single submitter Brugada syndrome
- c.375-168C>G Single submitter
- c.-70-11C>T Single submitter
- c.-71+166dup Single submitter
- c.-71+215del Single submitter
- c.-88_-87delinsTT Single submitter
- p.Ala15= Single submitter Brugada syndrome
- p.Ala171= Single submitter Cardiovascular phenotype
- p.Ala18= Single submitter Cardiovascular phenotype
- p.Ala19= Single submitter Cardiovascular phenotype
- p.Ala282= Single submitter Cardiovascular phenotype
- p.Ala34= Single submitter Cardiovascular phenotype
- p.Ala350= Single submitter Cardiovascular phenotype
- p.Ala355= Single submitter Cardiovascular phenotype
- p.Ala42= Single submitter Cardiovascular phenotype
- p.Ala88= Single submitter Cardiovascular phenotype
- p.Arg211= Single submitter Brugada syndrome
- p.Arg26= Single submitter Cardiovascular phenotype
- p.Arg28= Single submitter Cardiovascular phenotype
- p.Arg352= Single submitter Cardiovascular phenotype
- p.Arg356= Single submitter Brugada syndrome
- p.Arg381= Single submitter Brugada syndrome
- p.Arg4= Single submitter Brugada syndrome
- p.Arg51= Single submitter Cardiovascular phenotype
- p.Arg55= Single submitter Cardiovascular phenotype
- p.Arg70= Single submitter Cardiovascular phenotype
- p.Asn21= Single submitter Cardiovascular phenotype
- p.Asn401= Single submitter Cardiovascular phenotype
- p.Asn402= Single submitter Cardiovascular phenotype
- p.Asp214= Single submitter Brugada syndrome
- p.Asp66= Single submitter Brugada syndrome
- p.Cys43= Single submitter Brugada syndrome
- p.Gln370= Single submitter Cardiovascular phenotype
- p.Gly304= Single submitter Cardiovascular phenotype
- p.Gly333= Single submitter Cardiovascular phenotype
- p.Gly54= Single submitter Cardiovascular phenotype
- p.His244= Single submitter Cardiovascular phenotype
- p.His322= Single submitter Cardiovascular phenotype
- p.His47= Single submitter Cardiovascular phenotype
- p.His98= Single submitter Cardiovascular phenotype
- p.Ile135= Single submitter
- p.Ile168= Single submitter Cardiovascular phenotype
- p.Ile17= Single submitter Cardiovascular phenotype
- p.Ile220= Single submitter Brugada syndrome
- p.Ile266= Single submitter Brugada syndrome
- p.Ile267= Single submitter Brugada syndrome
- p.Ile398Met Single submitter hypertrophic cardiomyopathy
- p.Ile75= Single submitter Brugada syndrome
- p.Leu132= Single submitter Cardiovascular phenotype
- p.Leu161= Single submitter Brugada syndrome
- p.Leu374= Single submitter Brugada syndrome
- p.Leu57= Single submitter Cardiovascular phenotype
- p.Leu81= Single submitter Brugada syndrome
- p.Lys24= Single submitter Cardiovascular phenotype
- p.Lys273= Single submitter Brugada syndrome
- p.Lys33= Single submitter Cardiovascular phenotype
- p.Phe260= Single submitter
- p.Pro25= Single submitter Cardiovascular phenotype
- p.Pro276= Single submitter Cardiovascular phenotype
- p.Pro9= Single submitter Cardiovascular phenotype
- p.Ser108= Single submitter Cardiovascular phenotype
- p.Ser117= Single submitter Cardiovascular phenotype
- p.Ser312= Single submitter Cardiovascular phenotype
- p.Ser385= Single submitter Cardiovascular phenotype
- p.Ser404= Single submitter Cardiovascular phenotype
- p.Ser79= Single submitter Cardiovascular phenotype
- p.Thr368= Single submitter Brugada syndrome
- p.Thr414= Single submitter Cardiovascular phenotype
- p.Thr421= Single submitter Cardiovascular phenotype
- p.Thr72= Single submitter Cardiovascular phenotype
- p.Tyr12= Single submitter Brugada syndrome
- p.Val13= Single submitter Cardiovascular phenotype
- p.Val139= Single submitter Cardiovascular phenotype
- p.Val212= Single submitter Brugada syndrome
- p.Val262= Single submitter Brugada syndrome
- p.Val334= Single submitter Cardiovascular phenotype
- p.Val94= Single submitter Cardiovascular phenotype
Uncertain significance 137
- p.Arg226Cys Multiple submitters Brugada syndrome ⚠
- p.Arg274Cys Multiple submitters Brugada syndrome ⚠
- p.Arg274His Multiple submitters Cardiovascular phenotype ⚠
- p.Arg28Pro Multiple submitters Cardiovascular phenotype ⚠
- p.Arg30Cys Multiple submitters Cardiovascular phenotype ⚠
- p.Arg30Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Arg352Gln Multiple submitters Cardiovascular phenotype ⚠
- p.Arg352Trp Multiple submitters Brugada syndrome ⚠
- p.Arg356Gln Multiple submitters Brugada syndrome ⚠
- p.Arg394Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Arg399Gln Multiple submitters Cardiovascular phenotype ⚠
- p.Asn389Ser Multiple submitters Brugada syndrome ⚠
- p.Asn402Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Gln411Pro Multiple submitters Brugada syndrome ⚠
- p.Glu255Asp Multiple submitters Brugada syndrome ⚠
- p.Glu357Gly Multiple submitters Brugada syndrome ⚠
- p.Gly109Arg Multiple submitters Cardiovascular phenotype ⚠
- p.Gly114_Leu115insMetGluLysSerGly Multiple submitters Cardiovascular phenotype
- p.Ile254Val Multiple submitters Brugada syndrome ⚠
- p.Ile314Thr Multiple submitters Cardiovascular phenotype ⚠
- p.Ile327Thr Multiple submitters Brugada syndrome ⚠
- p.Ile89Val Multiple submitters Cardiovascular phenotype ⚠
- p.Leu2Phe Multiple submitters Cardiovascular phenotype ⚠
- p.Lys33Arg Multiple submitters Cardiovascular phenotype ⚠
- p.Lys382Arg Multiple submitters Cardiovascular phenotype ⚠
- p.Pro153Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Pro253Thr Multiple submitters Cardiovascular phenotype ⚠
- p.Thr118Ile Multiple submitters Brugada syndrome ⚠
- p.Thr118Ser Multiple submitters Brugada syndrome ⚠
- p.Thr234Ile Multiple submitters Brugada syndrome ⚠
- p.Thr283Ile Multiple submitters Brugada syndrome ⚠
- p.Val201Ile Multiple submitters Cardiovascular phenotype ⚠
- p.Val240Ala Multiple submitters Brugada syndrome ⚠
- p.Val270Met Multiple submitters Brugada syndrome ⚠
- c.375-8C>A Single submitter Brugada syndrome
- p.105MEKSG[1] Single submitter Brugada syndrome
- p.Ala103Gly Single submitter ⚠
- p.Ala15Ser Single submitter Cardiovascular phenotype ⚠
- p.Ala18Val Single submitter Brugada syndrome ⚠
- p.Ala19Ser Single submitter Cardiovascular phenotype ⚠
- p.Ala19Thr Single submitter Brugada syndrome ⚠
- p.Ala263Val Single submitter Cardiovascular phenotype ⚠
- p.Ala349Val Single submitter Cardiovascular phenotype ⚠
- p.Ala38Ser Single submitter Brugada syndrome ⚠
- p.Ala46Gly Single submitter Cardiovascular phenotype ⚠
- p.Ala95Ser Single submitter Cardiovascular phenotype ⚠
- p.Ala97Asp Single submitter Brugada syndrome ⚠
- p.Ala97Pro Single submitter Cardiovascular phenotype ⚠
- p.Arg146Lys Single submitter ⚠
- p.Arg16His Single submitter Cardiovascular phenotype ⚠
- p.Arg195Cys Single submitter Brugada syndrome ⚠
- p.Arg195His Single submitter Brugada syndrome ⚠
- p.Arg202Ter Single submitter
- p.Arg211Gln Single submitter Cardiovascular phenotype ⚠
- p.Arg226His Single submitter Cardiovascular phenotype ⚠
- p.Arg26Cys Single submitter Brugada syndrome ⚠
- p.Arg30_Leu31insAspArg Single submitter Brugada syndrome
- p.Arg30His Single submitter Cardiovascular phenotype ⚠
- p.Arg323Cys Single submitter Brugada syndrome ⚠
- p.Arg323His Single submitter Brugada syndrome ⚠
- p.Arg352Leu Single submitter Brugada syndrome ⚠
- p.Arg35Gly Single submitter Cardiovascular phenotype ⚠
- p.Arg383His Single submitter Brugada syndrome ⚠
- p.Arg51Pro Single submitter Cardiovascular phenotype ⚠
- p.Asn258Tyr Single submitter Cardiovascular phenotype ⚠
- p.Asn390Ser Single submitter Cardiovascular phenotype ⚠
- p.Asn44Ser Single submitter Cardiovascular phenotype ⚠
- p.Asp251Glu Single submitter Brugada syndrome ⚠
- p.Asp284Glu Single submitter Cardiovascular phenotype ⚠
- p.Asp289Glu Single submitter Cardiovascular phenotype ⚠
- p.Asp359Glu Single submitter Cardiovascular phenotype ⚠
- p.Cys207Phe Single submitter Cardiovascular phenotype ⚠
- p.Cys268Arg Single submitter Cardiovascular phenotype ⚠
- p.Gln319Leu Single submitter Brugada syndrome ⚠
- p.Glu151Gln Single submitter Cardiovascular phenotype ⚠
- p.Glu423Asp Single submitter Cardiovascular phenotype ⚠
- p.Gly142Glu Single submitter ⚠
- p.Gly417Arg Single submitter Brugada syndrome ⚠
- p.Gly41Arg Single submitter Cardiovascular phenotype ⚠
- p.Gly41Glu Single submitter Cardiovascular phenotype ⚠
- p.Gly41Lys Single submitter Cardiovascular phenotype
- p.His196Tyr Single submitter Brugada syndrome ⚠
- p.Ile141Leu Single submitter Cardiovascular phenotype ⚠
- p.Ile17Val Single submitter Cardiovascular phenotype ⚠
- p.Ile221Val Single submitter Cardiovascular phenotype ⚠
- p.Ile243Val Single submitter Cardiovascular phenotype ⚠
- p.Ile266Thr Single submitter Brugada syndrome ⚠
- p.Ile271Thr Single submitter Cardiovascular phenotype ⚠
- p.Ile280Val Single submitter Cardiovascular phenotype ⚠
- p.Ile305Asn Single submitter Brugada syndrome ⚠
- p.Ile314Met Single submitter Cardiovascular phenotype ⚠
- p.Ile318Ser Single submitter Brugada syndrome ⚠
- p.Ile318Val Single submitter Cardiovascular phenotype ⚠
- p.Ile398_Ser403dup Single submitter Brugada syndrome
- p.Ile50Val Single submitter Cardiovascular phenotype
- p.Leu246Met Single submitter Brugada syndrome ⚠
- p.Leu405Phe Single submitter Cardiovascular phenotype ⚠
- p.Leu405Pro Single submitter Cardiovascular phenotype ⚠
- p.Leu64Phe Single submitter Brugada syndrome ⚠
- p.Lys112Ile Single submitter Cardiovascular phenotype ⚠
- p.Lys180Glu Single submitter Cardiovascular phenotype ⚠
- p.Lys24_Arg26dup Single submitter Brugada syndrome
- p.Lys409Glu Single submitter Cardiovascular phenotype
- p.Met110Leu Single submitter Brugada syndrome ⚠
- p.Met110Thr Single submitter Cardiovascular phenotype ⚠
- p.Met148Ile Single submitter Cardiovascular phenotype ⚠
- p.Met148Val Single submitter Cardiovascular phenotype ⚠
- p.Met1fs Single submitter Brugada syndrome
- p.Met386Leu Single submitter Brugada syndrome ⚠
- p.Met392Ile Single submitter Brugada syndrome ⚠
- p.Met392Val Single submitter Cardiovascular phenotype ⚠
- p.Met406Ile Single submitter Brugada syndrome ⚠
- p.Met406Leu Single submitter Brugada syndrome ⚠
- p.Met406Thr Single submitter Brugada syndrome ⚠
- p.Met413Thr Single submitter ⚠
- p.Met78Thr Single submitter Cardiovascular phenotype ⚠
- p.Phe127Leu Single submitter Brugada syndrome ⚠
- p.Phe260Leu Single submitter Brugada syndrome ⚠
- p.Phe412Leu Single submitter Brugada syndrome ⚠
- p.Phe96Val Single submitter Cardiovascular phenotype ⚠
- p.Pro236Arg Single submitter Cardiovascular phenotype ⚠
- p.Pro32Ser Single submitter Brugada syndrome ⚠
- p.Pro415fs Single submitter Brugada syndrome
- p.Pro9Ser Single submitter Cardiovascular phenotype ⚠
- p.Ser222Gly Single submitter Cardiovascular phenotype ⚠
- p.Ser375Phe Single submitter Brugada syndrome ⚠
- p.Ser391Pro Single submitter Cardiovascular phenotype ⚠
- p.Ser403Phe Single submitter Cardiovascular phenotype ⚠
- p.Ser40Thr Single submitter Cardiovascular phenotype ⚠
- p.Thr128fs Single submitter
- p.Val13Leu Single submitter Cardiovascular phenotype ⚠
- p.Val212Ala Single submitter Brugada syndrome ⚠
- p.Val229Leu Single submitter Cardiovascular phenotype ⚠
- p.Val292Ile Single submitter Cardiovascular phenotype ⚠
- p.Val410Met Single submitter Cardiovascular phenotype
- p.Cys176Ser No assertion criteria ⚠
- p.Val65Met No assertion criteria ⚠