SCN4B — 259 ClinVar variants
All ClinVar germline SCN4B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 103 flagged for review →
2 Pathogenic · 16 Conflicting · 25 Benign · 10 Benign/Likely benign · 80 Likely benign · 126 Uncertain significance
Full SCN4B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 103
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 9
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
SCN4B p.Ala75Thr
Conflicting
Single submitter
Cardiovascular phenotype
-
SCN4B p.Arg195Gln
Conflicting
Single submitter
Cardiovascular phenotype
-
SCN4B p.Asn160Lys
Conflicting
Single submitter
long QT syndrome 10
-
SCN4B p.Asp6Glu
Conflicting
Single submitter
Cardiovascular phenotype
-
SCN4B p.Gly8Ser
Conflicting
Single submitter
Cardiovascular phenotype
-
SCN4B p.His65Leu
Conflicting
Single submitter
Cardiovascular phenotype
-
SCN4B p.Ile174Val
Conflicting
Single submitter
Cardiovascular phenotype
-
SCN4B p.Leu181Pro
Conflicting
Single submitter
Cardiovascular phenotype
-
SCN4B p.Val169Ile
Conflicting
Single submitter
Cardiovascular phenotype
Predictors lean, ClinVar uncertain 60
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
SCN4B p.Ala12Thr
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
SCN4B p.Arg195Trp
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
SCN4B p.Arg67Gln
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
SCN4B p.Asp159His
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
SCN4B p.Glu157Gln
Uncertain significance
Multiple submitters
long QT syndrome 10
-
SCN4B p.Gly3Arg
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
SCN4B p.His65Tyr
Uncertain significance
Multiple submitters
long QT syndrome 10
-
SCN4B p.Ile116Val
Uncertain significance
Multiple submitters
long QT syndrome 10
-
SCN4B p.Lys197Glu
Uncertain significance
Multiple submitters
long QT syndrome 10
-
SCN4B p.Lys77Asn
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
SCN4B p.Pro52Arg
Uncertain significance
Multiple submitters
long QT syndrome 10
-
SCN4B p.Ser89Cys
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
SCN4B p.Thr102Asn
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
SCN4B p.Thr39Ala
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
SCN4B p.Val152Ile
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
SCN4B p.Val35Met
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
SCN4B p.Ala220Thr
Uncertain significance
Single submitter
long QT syndrome 10
-
SCN4B p.Ala38Thr
Uncertain significance
Single submitter
long QT syndrome 10
-
SCN4B p.Arg100Ser
Uncertain significance
Single submitter
long QT syndrome 10
-
SCN4B p.Arg67Leu
Uncertain significance
Single submitter
long QT syndrome 10
-
SCN4B p.Asn45Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SCN4B p.Asp159Glu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SCN4B p.Asp6Gly
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SCN4B p.Asp74Gly
Uncertain significance
Single submitter
long QT syndrome 10
-
SCN4B p.Glu221Gln
Uncertain significance
Single submitter
long QT syndrome 10
-
SCN4B p.Glu221Gly
Uncertain significance
Single submitter
long QT syndrome 10
-
SCN4B p.Glu62Gln
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SCN4B p.Gly175Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SCN4B p.Gly46Asp
Uncertain significance
Single submitter
long QT syndrome 10
-
SCN4B p.Gly5Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SCN4B p.Ile180Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SCN4B p.Ile190Leu
Uncertain significance
Single submitter
long QT syndrome 10
-
SCN4B p.Ile78Ser
Uncertain significance
Single submitter
long QT syndrome 10
-
SCN4B p.Leu118Pro
Uncertain significance
Single submitter
long QT syndrome 10
-
SCN4B p.Leu164His
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SCN4B p.Leu179Phe
Uncertain significance
Single submitter
long QT syndrome 10
-
SCN4B p.Leu182Val
Uncertain significance
Single submitter
long QT syndrome 10
-
SCN4B p.Leu186Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SCN4B p.Leu64Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SCN4B p.Lys185Arg
Uncertain significance
Single submitter
long QT syndrome 10
-
SCN4B p.Lys192Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SCN4B p.Lys192Asn
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SCN4B p.Lys193Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SCN4B p.Lys199Arg
Uncertain significance
Single submitter
long QT syndrome 10
- SCN4B p.Lys227Glu Uncertain significance Single submitter
-
SCN4B p.Lys96Glu
Uncertain significance
Single submitter
long QT syndrome 10
-
SCN4B p.Met111Leu
Uncertain significance
Single submitter
long QT syndrome 10
-
SCN4B p.Pro216Arg
Uncertain significance
Single submitter
long QT syndrome 10
- SCN4B p.Pro216Leu Uncertain significance Single submitter
-
SCN4B p.Pro225Ala
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SCN4B p.Ser204Gly
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SCN4B p.Ser205Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SCN4B p.Ser218Ala
Uncertain significance
Single submitter
long QT syndrome 10
-
SCN4B p.Ser34Pro
Uncertain significance
Single submitter
long QT syndrome 10
-
SCN4B p.Ser57Arg
Uncertain significance
Single submitter
long QT syndrome 10
-
SCN4B p.Thr54Pro
Uncertain significance
Single submitter
long QT syndrome 10
-
SCN4B p.Tyr42Cys
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SCN4B p.Val173Ala
Uncertain significance
Single submitter
long QT syndrome 10
-
SCN4B p.Val228Met
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SCN4B p.Val27Leu
Uncertain significance
Single submitter
long QT syndrome 10
Predictors split 34
The independent predictors disagree with each other — read with care.
-
SCN4B p.Asn45His
Uncertain significance
Multiple submitters
long QT syndrome 10
-
SCN4B p.Gly214Val
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
SCN4B p.Gly217Cys
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
SCN4B p.Phe66Leu
Uncertain significance
Multiple submitters
long QT syndrome 10
-
SCN4B p.Ser205Pro
Uncertain significance
Multiple submitters
long QT syndrome 10
-
SCN4B p.Thr211Met
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
SCN4B p.Thr94Met
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
SCN4B p.Trp14Gly
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
SCN4B p.Val35Ala
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
SCN4B p.Ala38Pro
Conflicting
Single submitter
Cardiovascular phenotype
-
SCN4B p.Ala43Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SCN4B p.Arg154Gly
Uncertain significance
Single submitter
long QT syndrome 10
-
SCN4B p.Asn112Lys
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SCN4B p.Asp125Asn
Uncertain significance
Single submitter
long QT syndrome 10
-
SCN4B p.Cys201Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SCN4B p.Glu200Gly
Uncertain significance
Single submitter
long QT syndrome 10
-
SCN4B p.Glu212Lys
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SCN4B p.Glu32Asp
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SCN4B p.Gly171Ala
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SCN4B p.Gly46Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SCN4B p.Ile178Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SCN4B p.Ile80Thr
Uncertain significance
Single submitter
long QT syndrome 10
-
SCN4B p.Phe59Leu
Uncertain significance
Single submitter
long QT syndrome 10
-
SCN4B p.Phe61Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SCN4B p.Ser205Tyr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SCN4B p.Ser206Leu
Conflicting
Single submitter
Cardiovascular phenotype
-
SCN4B p.Ser72Gly
Uncertain significance
Single submitter
long QT syndrome 10
-
SCN4B p.Thr161Arg
Conflicting
Single submitter
Cardiovascular phenotype
-
SCN4B p.Thr211Arg
Conflicting
Single submitter
Cardiovascular phenotype
-
SCN4B p.Tyr70Cys
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SCN4B p.Val203Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SCN4B p.Val203Met
Conflicting
Single submitter
Cardiovascular phenotype
-
SCN4B p.Ile166Leu
Pathogenic
No assertion criteria
atrial fibrillation, familial, 17
-
SCN4B p.Val162Gly
Pathogenic
No assertion criteria
atrial fibrillation, familial, 17
All SCN4B variants
Pathogenic 2
- p.Ile166Leu No assertion criteria atrial fibrillation, familial, 17 ⚠
- p.Val162Gly No assertion criteria atrial fibrillation, familial, 17 ⚠
Conflicting classifications of pathogenicity 16
- c.464-12C>T Single submitter
- c.62-16G>A Single submitter long QT syndrome 10
- p.Ala38Pro Single submitter Cardiovascular phenotype ⚠
- p.Ala75Thr Single submitter Cardiovascular phenotype ⚠
- p.Arg195Gln Single submitter Cardiovascular phenotype ⚠
- p.Asn160Lys Single submitter long QT syndrome 10 ⚠
- p.Asp6Glu Single submitter Cardiovascular phenotype ⚠
- p.Gly8Ser Single submitter Cardiovascular phenotype ⚠
- p.His65Leu Single submitter Cardiovascular phenotype ⚠
- p.Ile174Val Single submitter Cardiovascular phenotype ⚠
- p.Leu181Pro Single submitter Cardiovascular phenotype ⚠
- p.Ser206Leu Single submitter Cardiovascular phenotype ⚠
- p.Thr161Arg Single submitter Cardiovascular phenotype ⚠
- p.Thr211Arg Single submitter Cardiovascular phenotype ⚠
- p.Val169Ile Single submitter Cardiovascular phenotype ⚠
- p.Val203Met Single submitter Cardiovascular phenotype ⚠
Benign 25
- c.464-100G>A Multiple submitters
- c.464-101G>A Multiple submitters
- c.464-113C>T Multiple submitters
- c.464-127G>A Multiple submitters
- c.464-243T>C Multiple submitters
- c.464-259C>T Multiple submitters
- c.593+117G>A Multiple submitters
- c.593+146C>T Multiple submitters
- c.593+62C>T Multiple submitters
- c.594-80A>C Multiple submitters
- c.463+205_463+206insCTCTTAGC Single submitter
- c.463+270G>C Single submitter
- c.62-79C>A Single submitter
- c.-144T>G Single submitter
- c.-36C>G Single submitter
- c.-49C>T Single submitter
- c.-91T>G Single submitter
- c.*10C>T Single submitter
- c.*125C>T Single submitter
- c.*158C>T Single submitter
- c.*208A>C Single submitter
- c.*2939G>C Single submitter
- c.*328G>A Single submitter
- c.*987_*989dup Single submitter
- p.Phe59fs Single submitter
Benign/Likely benign 10
- c.235-13C>T Multiple submitters long QT syndrome 10
- c.-222T>A Multiple submitters
- c.*362G>T Multiple submitters
- c.*7C>T Multiple submitters
- p.Asn160= Multiple submitters Cardiovascular phenotype
- p.Asn208= Multiple submitters Cardiovascular phenotype
- p.Asn213= Multiple submitters Cardiovascular phenotype
- p.Cys58= Multiple submitters Cardiovascular phenotype
- p.Ser206= Multiple submitters Cardiovascular phenotype
- p.Thr94= Multiple submitters Cardiovascular phenotype
Likely benign 80
- c.464-14C>T Multiple submitters long QT syndrome 10
- c.593+19C>T Multiple submitters long QT syndrome 10
- c.-29C>A Multiple submitters
- p.Arg67= Multiple submitters long QT syndrome 10
- p.Arg67Trp Multiple submitters Cardiovascular phenotype
- p.Asn210= Multiple submitters Cardiovascular phenotype
- p.Asp97= Multiple submitters Cardiovascular phenotype
- p.Glu200= Multiple submitters Cardiovascular phenotype
- p.Gly171= Multiple submitters Cardiovascular phenotype
- p.Gly214Ser Multiple submitters long QT syndrome 10
- p.Gly7= Multiple submitters Cardiovascular phenotype
- p.His132= Multiple submitters Cardiovascular phenotype
- p.Ile190= Multiple submitters Cardiovascular phenotype
- p.Leu167= Multiple submitters Cardiovascular phenotype
- p.Leu182= Multiple submitters Cardiovascular phenotype
- p.Leu202= Multiple submitters long QT syndrome 10
- p.Lys193= Multiple submitters long QT syndrome 10
- p.Pro11= Multiple submitters Cardiovascular phenotype
- p.Ser115= Multiple submitters Cardiovascular phenotype
- p.Val104= Multiple submitters Cardiovascular phenotype
- p.Val169= Multiple submitters Cardiovascular phenotype
- c.234+11G>A Single submitter long QT syndrome 10
- c.234+14G>A Single submitter long QT syndrome 10
- c.235-7C>T Single submitter long QT syndrome 10
- c.463+10A>G Single submitter long QT syndrome 10
- c.464-132del Single submitter
- c.593+10T>C Single submitter long QT syndrome 10
- c.593+274C>T Single submitter
- c.594-10C>T Single submitter
- c.594-15T>C Single submitter long QT syndrome 10
- c.594-17TC[2] Single submitter long QT syndrome 10
- c.594-6C>T Single submitter
- c.594-7T>A Single submitter long QT syndrome 10
- c.61+14A>G Single submitter long QT syndrome 10
- c.61+15G>C Single submitter long QT syndrome 10
- c.61+15G>T Single submitter long QT syndrome 10
- c.61+42A>T Single submitter
- c.62-18G>A Single submitter long QT syndrome 10
- c.62-260G>A Single submitter
- c.62-5C>T Single submitter long QT syndrome 10
- c.62-7T>C Single submitter long QT syndrome 10
- c.-15G>A Single submitter
- c.-27C>G Single submitter
- c.*1334G>A Single submitter
- c.*2120A>C Single submitter
- c.*2623A>G Single submitter
- c.*2879T>C Single submitter
- c.*3054T>C Single submitter
- c.*785G>A Single submitter
- c.*812A>G Single submitter
- c.*986C>G Single submitter
- p.Ala12= Single submitter Cardiovascular phenotype
- p.Asp209= Single submitter long QT syndrome 10
- p.Asp74= Single submitter Cardiovascular phenotype
- p.Asp90= Single submitter long QT syndrome 10
- p.Cys201= Single submitter Cardiovascular phenotype
- p.Gly3= Single submitter Cardiovascular phenotype
- p.Gly5= Single submitter long QT syndrome 10
- p.Gly8= Single submitter Cardiovascular phenotype
- p.Ile174= Single submitter Cardiovascular phenotype
- p.Ile183= Single submitter Cardiovascular phenotype
- p.Leu164= Single submitter Cardiovascular phenotype
- p.Leu177= Single submitter
- p.Leu215= Single submitter long QT syndrome 10
- p.Leu25= Single submitter long QT syndrome 10
- p.Leu25Phe Single submitter
- p.Lys134= Single submitter Cardiovascular phenotype
- p.Lys185= Single submitter long QT syndrome 10
- p.Lys199= Single submitter long QT syndrome 10
- p.Lys37= Single submitter Cardiovascular phenotype
- p.Phe59Ser Single submitter Cardiovascular phenotype
- p.Phe61= Single submitter Cardiovascular phenotype
- p.Pro2= Single submitter Cardiovascular phenotype
- p.Pro26= Single submitter Cardiovascular phenotype
- p.Pro52= Single submitter long QT syndrome 10
- p.Ser205= Single submitter Cardiovascular phenotype
- p.Ser34= Single submitter Cardiovascular phenotype
- p.Thr211= Single submitter Cardiovascular phenotype
- p.Tyr42= Single submitter Cardiovascular phenotype
- p.Val162= Single submitter Cardiovascular phenotype
Uncertain significance 126
- c.234+1G>A Multiple submitters long QT syndrome 10
- c.463+3A>T Multiple submitters Cardiovascular phenotype
- c.594-2A>G Multiple submitters Cardiovascular phenotype
- c.61+1G>A Multiple submitters long QT syndrome 10
- c.62-1G>A Multiple submitters Cardiovascular phenotype
- c.*961A>G Multiple submitters long QT syndrome 10
- p.Ala12Thr Multiple submitters Cardiovascular phenotype ⚠
- p.Arg195Trp Multiple submitters Cardiovascular phenotype ⚠
- p.Arg67Gln Multiple submitters Cardiovascular phenotype ⚠
- p.Asn213fs Multiple submitters Cardiovascular phenotype
- p.Asn45His Multiple submitters long QT syndrome 10 ⚠
- p.Asp159His Multiple submitters Cardiovascular phenotype ⚠
- p.Glu157Gln Multiple submitters long QT syndrome 10 ⚠
- p.Gly214Val Multiple submitters Cardiovascular phenotype ⚠
- p.Gly217Cys Multiple submitters Cardiovascular phenotype ⚠
- p.Gly3Arg Multiple submitters Cardiovascular phenotype ⚠
- p.His65Tyr Multiple submitters long QT syndrome 10 ⚠
- p.Ile116Val Multiple submitters long QT syndrome 10 ⚠
- p.Leu215fs Multiple submitters Cardiovascular phenotype
- p.Lys197Glu Multiple submitters long QT syndrome 10 ⚠
- p.Lys77Asn Multiple submitters Cardiovascular phenotype ⚠
- p.Phe66Leu Multiple submitters long QT syndrome 10 ⚠
- p.Pro52Arg Multiple submitters long QT syndrome 10 ⚠
- p.Ser205Pro Multiple submitters long QT syndrome 10 ⚠
- p.Ser89Cys Multiple submitters Cardiovascular phenotype ⚠
- p.Thr102Asn Multiple submitters Cardiovascular phenotype ⚠
- p.Thr211Met Multiple submitters Cardiovascular phenotype ⚠
- p.Thr39Ala Multiple submitters Cardiovascular phenotype ⚠
- p.Thr94Met Multiple submitters Cardiovascular phenotype ⚠
- p.Trp14Gly Multiple submitters Cardiovascular phenotype ⚠
- p.Val152Ile Multiple submitters Cardiovascular phenotype ⚠
- p.Val170Met Multiple submitters Cardiovascular phenotype
- p.Val35Ala Multiple submitters Cardiovascular phenotype ⚠
- p.Val35Met Multiple submitters Cardiovascular phenotype ⚠
- c.234+1G>C Single submitter Cardiovascular phenotype
- c.234+1G>T Single submitter Cardiovascular phenotype
- c.463+5G>A Single submitter
- c.464-11G>A Single submitter long QT syndrome 10
- c.61+1144T>A Single submitter long QT syndrome 10
- c.61+5G>A Single submitter Cardiovascular phenotype
- c.*1410C>T Single submitter long QT syndrome 10
- c.*2196G>A Single submitter long QT syndrome 10
- c.*2977A>G Single submitter long QT syndrome 10
- c.*670G>T Single submitter long QT syndrome 10
- p.178IL[1] Single submitter long QT syndrome 10
- p.Ala220Thr Single submitter long QT syndrome 10 ⚠
- p.Ala38Thr Single submitter long QT syndrome 10 ⚠
- p.Ala43Thr Single submitter long QT syndrome 10
- p.Ala43Val Single submitter Cardiovascular phenotype ⚠
- p.Arg100Ser Single submitter long QT syndrome 10 ⚠
- p.Arg154Gly Single submitter long QT syndrome 10 ⚠
- p.Arg67Leu Single submitter long QT syndrome 10 ⚠
- p.Asn112Asp Single submitter long QT syndrome 10
- p.Asn112Lys Single submitter Cardiovascular phenotype ⚠
- p.Asn210Ser Single submitter Cardiovascular phenotype
- p.Asn45Ser Single submitter Cardiovascular phenotype ⚠
- p.Asp125Asn Single submitter long QT syndrome 10 ⚠
- p.Asp159Glu Single submitter Cardiovascular phenotype ⚠
- p.Asp6Gly Single submitter Cardiovascular phenotype ⚠
- p.Asp74Gly Single submitter long QT syndrome 10 ⚠
- p.Cys201Ser Single submitter Cardiovascular phenotype ⚠
- p.Cys53Ter Single submitter Cardiovascular phenotype
- p.Glu157fs Single submitter
- p.Glu200Gly Single submitter long QT syndrome 10 ⚠
- p.Glu212Lys Single submitter Cardiovascular phenotype ⚠
- p.Glu221Gln Single submitter long QT syndrome 10 ⚠
- p.Glu221Gly Single submitter long QT syndrome 10 ⚠
- p.Glu32Asp Single submitter Cardiovascular phenotype ⚠
- p.Glu62Gln Single submitter Cardiovascular phenotype ⚠
- p.Gly171Ala Single submitter Cardiovascular phenotype ⚠
- p.Gly175Arg Single submitter Cardiovascular phenotype ⚠
- p.Gly207Val Single submitter long QT syndrome 10
- p.Gly46Asp Single submitter long QT syndrome 10 ⚠
- p.Gly46Ser Single submitter Cardiovascular phenotype ⚠
- p.Gly5Arg Single submitter Cardiovascular phenotype ⚠
- p.Gly8Glu Single submitter Cardiovascular phenotype
- p.Ile178Thr Single submitter Cardiovascular phenotype ⚠
- p.Ile180Leu Single submitter Cardiovascular phenotype ⚠
- p.Ile190Leu Single submitter long QT syndrome 10 ⚠
- p.Ile78Ser Single submitter long QT syndrome 10 ⚠
- p.Ile80Thr Single submitter long QT syndrome 10 ⚠
- p.Leu118Pro Single submitter long QT syndrome 10 ⚠
- p.Leu164Gln Single submitter Cardiovascular phenotype
- p.Leu164His Single submitter Cardiovascular phenotype ⚠
- p.Leu179Phe Single submitter long QT syndrome 10 ⚠
- p.Leu182Val Single submitter long QT syndrome 10 ⚠
- p.Leu186Val Single submitter Cardiovascular phenotype ⚠
- p.Leu19Asp Single submitter Cardiovascular phenotype
- p.Leu64Arg Single submitter Cardiovascular phenotype ⚠
- p.Lys137Glu Single submitter long QT syndrome 10
- p.Lys185Arg Single submitter long QT syndrome 10 ⚠
- p.Lys192Arg Single submitter Cardiovascular phenotype ⚠
- p.Lys192Asn Single submitter Cardiovascular phenotype ⚠
- p.Lys193Arg Single submitter Cardiovascular phenotype ⚠
- p.Lys197Ter Single submitter Cardiovascular phenotype
- p.Lys199Arg Single submitter long QT syndrome 10 ⚠
- p.Lys227Glu Single submitter ⚠
- p.Lys96Glu Single submitter long QT syndrome 10 ⚠
- p.Met111Leu Single submitter long QT syndrome 10 ⚠
- p.Met1Arg Single submitter Cardiovascular phenotype
- p.Phe59Leu Single submitter long QT syndrome 10 ⚠
- p.Phe61Leu Single submitter Cardiovascular phenotype ⚠
- p.Pro216Arg Single submitter long QT syndrome 10 ⚠
- p.Pro216Leu Single submitter ⚠
- p.Pro225Ala Single submitter Cardiovascular phenotype ⚠
- p.Ser204Gly Single submitter Cardiovascular phenotype ⚠
- p.Ser205Asn Single submitter Cardiovascular phenotype
- p.Ser205Thr Single submitter Cardiovascular phenotype ⚠
- p.Ser205Tyr Single submitter Cardiovascular phenotype ⚠
- p.Ser218Ala Single submitter long QT syndrome 10 ⚠
- p.Ser226fs Single submitter long QT syndrome 10
- p.Ser30= Single submitter Cardiovascular phenotype
- p.Ser30_Glu32delinsTer Single submitter long QT syndrome 10
- p.Ser34Pro Single submitter long QT syndrome 10 ⚠
- p.Ser57Arg Single submitter long QT syndrome 10 ⚠
- p.Ser72Gly Single submitter long QT syndrome 10 ⚠
- p.Ter229Ser Single submitter Cardiovascular phenotype
- p.Thr54Pro Single submitter long QT syndrome 10 ⚠
- p.Trp14Cys Single submitter long QT syndrome 10
- p.Tyr42Cys Single submitter Cardiovascular phenotype ⚠
- p.Tyr70Cys Single submitter Cardiovascular phenotype ⚠
- p.Val173Ala Single submitter long QT syndrome 10 ⚠
- p.Val203Leu Single submitter Cardiovascular phenotype ⚠
- p.Val228Met Single submitter Cardiovascular phenotype ⚠
- p.Val27Leu Single submitter long QT syndrome 10 ⚠
- p.Tyr70His No assertion criteria