KCNH2 — 3392 ClinVar variants

All ClinVar germline KCNH2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1459 flagged for review →

374 Pathogenic · 82 Pathogenic/Likely pathogenic · 174 Likely pathogenic · 260 Conflicting · 55 Benign · 70 Benign/Likely benign · 884 Likely benign · 1493 Uncertain significance

Full KCNH2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1459

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 6

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

KCNH2 p.Arg582Cys Pathogenic/Likely pathogenic Multiple submitters
Cardiovascular phenotype
KCNH2 p.Gly601Ser Pathogenic/Likely pathogenic Multiple submitters
Cardiovascular phenotype
KCNH2 p.Asn861Ser Pathogenic Single submitter
KCNH2 p.Pro596Ala Pathogenic Single submitter
long QT syndrome 2
KCNH2 p.Pro596His Pathogenic Single submitter
familial long QT syndrome
KCNH2 p.Val994Met Likely pathogenic Single submitter
long QT syndrome 2

Predictors agree, ClinVar conflicts 153

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 153

KCNH2 p.Ala1116Val Conflicting Single submitter
long QT syndrome
KCNH2 p.Ala190Thr Conflicting Single submitter
long QT syndrome
KCNH2 p.Ala190Val Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Ala285Val Conflicting Single submitter
long QT syndrome
KCNH2 p.Ala32Pro Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Ala448Ser Conflicting Single submitter
long QT syndrome
KCNH2 p.Ala448Thr Conflicting Single submitter
cardiac rhythm disease
KCNH2 p.Ala755Thr Conflicting Single submitter
cardiac rhythm disease
KCNH2 p.Ala797Asp Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Ala85Val Conflicting Single submitter
long QT syndrome
KCNH2 p.Ala913Val Conflicting Single submitter
cardiac rhythm disease
KCNH2 p.Arg100Gly Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Arg100Trp Conflicting Single submitter
cardiac rhythm disease
KCNH2 p.Arg1032Gln Conflicting Single submitter
long QT syndrome
KCNH2 p.Arg1047Cys Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Arg1047Leu Conflicting Single submitter
cardiac rhythm disease
KCNH2 p.Arg148Gln Conflicting Single submitter
short QT syndrome type 1
KCNH2 p.Arg27His Conflicting Single submitter
long QT syndrome
KCNH2 p.Arg328Cys Conflicting Single submitter
long QT syndrome
KCNH2 p.Arg356His Conflicting Single submitter
cardiac rhythm disease
KCNH2 p.Arg35Trp Conflicting Single submitter
KCNH2-related disorder
KCNH2 p.Arg397Cys Conflicting Single submitter
long QT syndrome
KCNH2 p.Arg472Pro Conflicting Single submitter
KCNH2-related disorder
KCNH2 p.Arg528Trp Conflicting Single submitter
long QT syndrome
KCNH2 p.Arg531Pro Conflicting Single submitter
long QT syndrome 2
KCNH2 p.Arg531Trp Conflicting Single submitter
KCNH2-related disorder
KCNH2 p.Arg534Ser Conflicting Single submitter
long QT syndrome
KCNH2 p.Arg685Cys Conflicting Single submitter
cardiac rhythm disease
KCNH2 p.Arg685His Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Arg784Gln Conflicting Single submitter
long QT syndrome
KCNH2 p.Arg784Trp Conflicting Single submitter
cardiac rhythm disease
KCNH2 p.Arg791Trp Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Arg823Gln Conflicting Single submitter
KCNH2-related disorder
KCNH2 p.Arg912Gln Conflicting Single submitter
long QT syndrome
KCNH2 p.Arg920Gln Conflicting Single submitter
cardiac rhythm disease
KCNH2 p.Arg922Gln Conflicting Single submitter
cardiac rhythm disease
KCNH2 p.Arg948Cys Conflicting Single submitter
cardiac rhythm disease
KCNH2 p.Arg948His Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Asn339Tyr Conflicting Single submitter
long QT syndrome 2
KCNH2 p.Asn33Thr Conflicting Single submitter
cardiac rhythm disease
KCNH2 p.Asn635Ile Conflicting Single submitter
long QT syndrome
KCNH2 p.Asn658Ser Conflicting Single submitter
long QT syndrome
KCNH2 p.Asp144Val Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Asp213Gly Conflicting Single submitter
long QT syndrome
KCNH2 p.Asp509Asn Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Asp609Gly Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Asp837Tyr Conflicting Single submitter
long QT syndrome
KCNH2 p.Cys39Arg Conflicting Single submitter
KCNH2-related disorder
KCNH2 p.Cys44Tyr Conflicting Single submitter
long QT syndrome
KCNH2 p.Cys555Tyr Conflicting Single submitter
long QT syndrome
KCNH2 p.Cys66Tyr Conflicting Single submitter
long QT syndrome
KCNH2 p.Cys828Arg Conflicting Single submitter
long QT syndrome 2
KCNH2 p.Cys977Phe Conflicting Single submitter
cardiac rhythm disease
KCNH2 p.Glu637Asp Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Glu788Lys Conflicting Single submitter
long QT syndrome
KCNH2 p.Glu95Ala Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Gly1036Asp Conflicting Single submitter
long QT syndrome
KCNH2 p.Gly149Ala Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Gly246Cys Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Gly53Cys Conflicting Single submitter
long QT syndrome
KCNH2 p.Gly584Cys Conflicting Single submitter
long QT syndrome
KCNH2 p.Gly594Asp Conflicting Single submitter
long QT syndrome
KCNH2 p.Gly601Asp Conflicting Single submitter
short QT syndrome type 1
KCNH2 p.Gly657Ser Conflicting Single submitter
KCNH2-related disorder
KCNH2 p.Gly749Val Conflicting Single submitter
familial long QT syndrome
KCNH2 p.Gly785Asp Conflicting Single submitter
long QT syndrome
KCNH2 p.Gly806Glu Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Gly924Ala Conflicting Single submitter
long QT syndrome
KCNH2 p.Gly924Glu Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.His147Arg Conflicting Single submitter
long QT syndrome
KCNH2 p.His402Arg Conflicting Single submitter
long QT syndrome
KCNH2 p.His492Tyr Conflicting Single submitter
KCNH2-related disorder
KCNH2 p.His562Gln Conflicting Single submitter
long QT syndrome
KCNH2 p.His731Pro Conflicting Single submitter
long QT syndrome
KCNH2 p.His771Arg Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Ile19Ser Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Ile42Phe Conflicting Single submitter
long QT syndrome 2
KCNH2 p.Ile42Thr Conflicting Single submitter
long QT syndrome
KCNH2 p.Ile593Thr Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Ile639Phe Conflicting Single submitter
long QT syndrome
KCNH2 p.Ile787Asn Conflicting Single submitter
long QT syndrome
KCNH2 p.Ile82Thr Conflicting Single submitter
long QT syndrome
KCNH2 p.Leu1027Ile Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Leu1042Pro Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Leu1045Phe Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Leu1108Val Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Leu1150Met Conflicting Single submitter
cardiac rhythm disease
KCNH2 p.Leu127Phe Conflicting Single submitter
KCNH2 p.Leu499Arg Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Leu532Pro Conflicting Single submitter
long QT syndrome 2
KCNH2 p.Leu559Phe Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Leu602Pro Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Leu615Phe Conflicting Single submitter
long QT syndrome
KCNH2 p.Leu693Pro Conflicting Single submitter
Inborn genetic diseases
KCNH2 p.Leu732Pro Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Leu955Val Conflicting Single submitter
cardiac rhythm disease
KCNH2 p.Lys101Glu Conflicting Single submitter
long QT syndrome
KCNH2 p.Lys407Glu Conflicting Single submitter
long QT syndrome 2
KCNH2 p.Lys610Glu Conflicting Single submitter
long QT syndrome
KCNH2 p.Lys638Glu Conflicting Single submitter
long QT syndrome
KCNH2 p.Lys897Arg Conflicting Single submitter
cardiac rhythm disease
KCNH2 p.Phe129Leu Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Phe640Leu Conflicting Single submitter
long QT syndrome 2
KCNH2 p.Phe640Ser Conflicting Single submitter
long QT syndrome
KCNH2 p.Phe68Leu Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Pro1030Leu Conflicting Single submitter
short QT syndrome type 1
KCNH2 p.Pro1084Leu Conflicting Single submitter
cardiac rhythm disease
KCNH2 p.Pro1122Leu Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Pro1125Ala Conflicting Single submitter
short QT syndrome type 1
KCNH2 p.Pro114Ser Conflicting Single submitter
long QT syndrome
KCNH2 p.Pro141Leu Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Pro334Leu Conflicting Single submitter
long QT syndrome
KCNH2 p.Pro347Ser Conflicting Single submitter
cardiac rhythm disease
KCNH2 p.Pro393Leu Conflicting Single submitter
long QT syndrome 2
KCNH2 p.Pro451Leu Conflicting Single submitter
long QT syndrome
KCNH2 p.Pro507Leu Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Pro63His Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Pro72Ser Conflicting Single submitter
KCNH2-related disorder
KCNH2 p.Pro846Ser Conflicting Single submitter
KCNH2-related disorder
KCNH2 p.Pro910Leu Conflicting Single submitter
cardiac rhythm disease
KCNH2 p.Pro917Leu Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Pro923Leu Conflicting Single submitter
long QT syndrome
KCNH2 p.Pro931Leu Conflicting Single submitter
long QT syndrome
KCNH2 p.Pro963Thr Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Ser351Leu Conflicting Single submitter
long QT syndrome
KCNH2 p.Ser428Leu Conflicting Single submitter
long QT syndrome
KCNH2 p.Ser428Pro Conflicting Single submitter
long QT syndrome
KCNH2 p.Ser55Leu Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Ser981Gly Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Thr1083Ala Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Thr1146Ser Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Thr13Asn Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Thr421Met Conflicting Single submitter
long QT syndrome 2
KCNH2 p.Thr473Asn Conflicting Single submitter
familial long QT syndrome
KCNH2 p.Thr473Pro Conflicting Single submitter
KCNH2-related disorder
KCNH2 p.Thr74Arg Conflicting Single submitter
long QT syndrome
KCNH2 p.Thr74Met Conflicting Single submitter
long QT syndrome
KCNH2 p.Thr899Met Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Trp563Cys Conflicting Single submitter
long QT syndrome
KCNH2 p.Trp568Ser Conflicting Single submitter
long QT syndrome
KCNH2 p.Trp585Leu Conflicting Single submitter
long QT syndrome
KCNH2 p.Tyr427Cys Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Tyr427Ser Conflicting Single submitter
long QT syndrome
KCNH2 p.Tyr54His Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Tyr54Ser Conflicting Single submitter
long QT syndrome
KCNH2 p.Tyr99Cys Conflicting Single submitter
KCNH2-related disorder
KCNH2 p.Val1038Leu Conflicting Single submitter
cardiac rhythm disease
KCNH2 p.Val1038Met Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Val1063Leu Conflicting Single submitter
long QT syndrome
KCNH2 p.Val533Met Conflicting Single submitter
cardiac rhythm disease

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

KCNH2 c.916+1G>A Conflicting Single submitter
Cardiovascular phenotype

Predictors lean, ClinVar uncertain 964

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 964

KCNH2 p.Ala1017Ser Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Ala1017Thr Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Ala1017Val Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Ala1077Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Ala1144Thr Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Ala121Val Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Ala142Thr Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Ala160Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Ala172Val Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Ala175Ser Uncertain significance Multiple submitters
progressive familial heart block
KCNH2 p.Ala185Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Ala188Val Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Ala193Val Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Ala203Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Ala228Pro Uncertain significance Multiple submitters
long QT syndrome 2
KCNH2 p.Ala244Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Ala244Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Ala244Thr Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Ala244Val Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Ala260Pro Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Ala260Val Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Ala268Val Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Ala285Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Ala293Thr Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Ala32Thr Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Ala350Ser Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Ala382Thr Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Ala442Val Uncertain significance Multiple submitters
long QT syndrome 2
KCNH2 p.Ala547Thr Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Ala547Val Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Ala558Val Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Ala671Gly Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Ala715Thr Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Ala715Val Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Ala753Ser Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Ala79Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Ala79Thr Uncertain significance Multiple submitters
long QT syndrome 2
KCNH2 p.Ala85Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Ala907Ser Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Ala907Thr Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Ala913Glu Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Ala97Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Ala990Thr Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Ala9Val Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Arg1007Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Arg1007His Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Arg1014Gln Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Arg1032Gly Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Arg1032Pro Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Arg1033Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Arg1035Gln Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Arg1047His Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Arg1055Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Arg20Gly Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Arg231Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Arg231Leu Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Arg232Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Arg232Leu Uncertain significance Multiple submitters
long QT syndrome 2
KCNH2 p.Arg232Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Arg242Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Arg242Gly Uncertain significance Multiple submitters
long QT syndrome 2
KCNH2 p.Arg252Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Arg252Pro Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Arg271His Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Arg366Gln Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Arg394Cys Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Arg394His Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Arg528Gln Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Arg534Leu Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Arg537Trp Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Arg541Cys Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Arg541His Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Arg672Cys Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Arg672His Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Arg679Gln Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Arg679Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Arg681Gln Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Arg694Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Arg694His Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Arg734Cys Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Arg744Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Arg784Pro Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Arg835Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Arg863Gln Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Arg887Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Arg892Leu Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Arg894Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Arg894Leu Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Arg912Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Arg920Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Arg922Leu Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Arg922Pro Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Arg954His Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Asn1024Ser Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Asn128Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Asn257His Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Asn317His Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Asn317Ser Uncertain significance Multiple submitters
long QT syndrome 2
KCNH2 p.Asn33Ser Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Asn635Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Asn714Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Asn802Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Asn861Ile Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Asn985Ser Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Asp1003Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Asp1037Glu Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Asp16Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Asp16His Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Asp197Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Asp219Val Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Asp259Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Asp321Tyr Uncertain significance Multiple submitters
long QT syndrome 2
KCNH2 p.Asp323His Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Asp383Asn Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Asp466Gly Uncertain significance Multiple submitters
long QT syndrome 2
KCNH2 p.Asp46Asn Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Asp46Gly Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Asp591Asn Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Asp850Asn Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Asp850Tyr Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Asp976Asn Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Cys1015Arg Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Cys276Gly Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Cys723Tyr Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Cys977Trp Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Gln11Leu Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Gln25His Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Gln376Glu Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Gln61Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Gln676Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Gln81His Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Gln884Arg Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Glu1119Gln Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Glu1126Gln Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Glu118Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Glu118Lys Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Glu130Lys Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Glu208Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Glu357Asp Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Glu372Lys Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Glu444Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Glu50Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Glu682Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Glu698Lys Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Glu876Lys Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Glu878Asp Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Glu944Asp Uncertain significance Multiple submitters
long QT syndrome 2
KCNH2 p.Glu966Lys Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Glu971Lys Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Glu978Gln Uncertain significance Multiple submitters
long QT syndrome

Predictors split 335

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 335

KCNH2 p.Ala282Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Ala290Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Ala704Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Ala746Ser Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Ala778Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Ala80Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Arg1005Gln Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Arg1005Trp Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Arg1035Trp Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Arg1051Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Arg1055Gly Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Arg1069Trp Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Arg1135Cys Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Arg1135His Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Arg159His Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Arg164His Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Arg273Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Arg280Cys Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Arg292His Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Arg301Leu Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Arg312Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Arg312His Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Arg312Leu Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Arg312Pro Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Arg328His Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Arg356Cys Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Arg397His Uncertain significance Multiple submitters
KCNH2-related disorder
KCNH2 p.Arg488Cys Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Arg488His Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Arg582His Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Arg582Pro Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Arg62Gln Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Arg744Gly Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Arg76Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Arg791Gln Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Arg883Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Arg883Trp Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Arg885His Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Arg885Ser Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Arg887Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Arg892His Uncertain significance Multiple submitters
short QT syndrome type 1
KCNH2 p.Arg920Trp Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Arg922Trp Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Arg92Cys Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Arg954Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Asp1037Asn Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Asp1043Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Asp591His Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Asp712Asn Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Asp793Asn Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Asp850His Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Glu1011Gly Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Glu289Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Glu289Lys Uncertain significance Multiple submitters
short QT syndrome type 1
KCNH2 p.Glu847Asp Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Glu900Lys Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Glu904Val Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Glu91Asp Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Glu929Val Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Gly294Val Uncertain significance Multiple submitters
long QT syndrome 2
KCNH2 p.Gly306Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Gly306Trp Likely pathogenic Multiple submitters
long QT syndrome
KCNH2 p.Gly572Ser Pathogenic Multiple submitters
KCNH2-related disorder
KCNH2 p.Gly925Arg Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.His1153Tyr Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.His221Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.His309Gln Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.His309Tyr Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.His578Pro Uncertain significance Multiple submitters
long QT syndrome 2
KCNH2 p.His70Arg Pathogenic/Likely pathogenic Multiple submitters
Cardiovascular phenotype
KCNH2 p.Ile414Val Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Ile458Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Ile567Val Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Ile583Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Ile583Val Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Ile96Thr Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Leu1136Phe Uncertain significance Multiple submitters
short QT syndrome type 1
KCNH2 p.Leu311Pro Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Leu468Phe Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Leu839Met Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Leu889Ser Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Lys101Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Lys741Gln Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Lys748Arg Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Lys897Met Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Met291Arg Uncertain significance Multiple submitters
long QT syndrome 2
KCNH2 p.Met291Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Met308Arg Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Met867Leu Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Phe551Leu Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Phe881Ile Uncertain significance Multiple submitters
long QT syndrome 2
KCNH2 p.Phe891Cys Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Pro1026Arg Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Pro1075Leu Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Pro1084Arg Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Pro1093Leu Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Pro1139Leu Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Pro1157Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Pro1157Ser Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Pro872Ala Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Pro952Arg Uncertain significance Multiple submitters
long QT syndrome 2
KCNH2 p.Ser275Arg Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Ser581Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Ser735Leu Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Ser818Ala Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Ser871Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Ser890Cys Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Ser930Arg Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Ser932Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Ser988Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Ser995Tyr Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Ser999Thr Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Thr1062Ile Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Thr895Arg Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Thr895Lys Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Trp154Arg Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Trp927Cys Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Tyr1078Cys Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Tyr447His Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Val115Met Uncertain significance Multiple submitters
Cardiovascular phenotype
KCNH2 p.Val476Ile Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Val483Ile Uncertain significance Multiple submitters
long QT syndrome
KCNH2 p.Val644Ile Uncertain significance Multiple submitters
cardiac rhythm disease
KCNH2 p.Ala277Asp Uncertain significance Single submitter
long QT syndrome
KCNH2 p.Ala282Val Uncertain significance Single submitter
long QT syndrome
KCNH2 p.Ala350Val Uncertain significance Single submitter
Cardiovascular phenotype
KCNH2 p.Ala478Asp Uncertain significance Single submitter
cardiac rhythm disease
KCNH2 p.Ala490Val Conflicting Single submitter
long QT syndrome 2
KCNH2 p.Ala565Gly Likely pathogenic Single submitter
long QT syndrome
KCNH2 p.Ala565Ser Uncertain significance Single submitter
Cardiovascular phenotype
KCNH2 p.Ala57Pro Uncertain significance Single submitter
long QT syndrome
KCNH2 p.Ala57Ser Uncertain significance Single submitter
long QT syndrome
KCNH2 p.Ala78Gly Uncertain significance Single submitter
KCNH2 p.Ala78Val Conflicting Single submitter
long QT syndrome
KCNH2 p.Ala80Gly Uncertain significance Single submitter
long QT syndrome
KCNH2 p.Ala80Thr Uncertain significance Single submitter
KCNH2 p.Ala824Gly Uncertain significance Single submitter
KCNH2 p.Ala83Ser Uncertain significance Single submitter
long QT syndrome
KCNH2 p.Arg1005Pro Uncertain significance Single submitter
long QT syndrome
KCNH2 p.Arg1007Leu Uncertain significance Single submitter
long QT syndrome
KCNH2 p.Arg100Gln Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Arg1014Leu Uncertain significance Single submitter
cardiac rhythm disease
KCNH2 p.Arg1032Trp Conflicting Single submitter
Cardiovascular phenotype
KCNH2 p.Arg1033Gly Uncertain significance Single submitter
cardiac rhythm disease
KCNH2 p.Arg1033Leu Uncertain significance Single submitter
long QT syndrome
KCNH2 p.Arg1041Lys Uncertain significance Single submitter
long QT syndrome
KCNH2 p.Arg1152Ser Uncertain significance Single submitter
cardiac rhythm disease
KCNH2 p.Arg148Trp Conflicting Single submitter
cardiac rhythm disease
KCNH2 p.Arg159Cys Uncertain significance Single submitter
long QT syndrome
KCNH2 p.Arg164Cys Uncertain significance Single submitter
long QT syndrome

All KCNH2 variants

Pathogenic 374

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

c.1129-1G>A Multiple submitters long QT syndrome
c.1129-2A>G Multiple submitters long QT syndrome
c.1946-2A>C Multiple submitters Cardiovascular phenotype
c.2398+2T>A Multiple submitters KCNH2-related disorder
p.Ala142fs Multiple submitters Cardiovascular phenotype
p.Ala228fs Multiple submitters long QT syndrome
p.Ala285fs Multiple submitters cardiac rhythm disease
p.Ala34fs Multiple submitters cardiac rhythm disease
p.Ala422Thr Multiple submitters long QT syndrome
p.Ala429fs Multiple submitters long QT syndrome
p.Ala505fs Multiple submitters long QT syndrome
p.Ala561Thr Multiple submitters Cardiovascular phenotype
p.Ala614Val Multiple submitters KCNH2-related disorder
p.Ala715fs Multiple submitters long QT syndrome
p.Ala79fs Multiple submitters long QT syndrome
p.Ala824fs Multiple submitters Cardiovascular phenotype
p.Ala915fs Multiple submitters long QT syndrome 2
p.Arg1014Ter Multiple submitters Cardiovascular phenotype
p.Arg1033fs Multiple submitters long QT syndrome
p.Arg1035fs Multiple submitters Cardiovascular phenotype
p.Arg252fs Multiple submitters cardiac rhythm disease
p.Arg366Ter Multiple submitters Cardiovascular phenotype
p.Arg534Cys Multiple submitters KCNH2-related disorder
p.Arg744Ter Multiple submitters KCNH2-related disorder
p.Arg814fs Multiple submitters long QT syndrome
p.Arg863Ter Multiple submitters Cardiovascular phenotype
p.Arg922fs Multiple submitters Cardiovascular phenotype
p.Asn339fs Multiple submitters long QT syndrome
p.Asn629Asp Multiple submitters Cardiovascular phenotype
p.Asn629Ser Multiple submitters KCNH2-related disorder
p.Asn629Thr Multiple submitters long QT syndrome
p.Asn633Ser Multiple submitters KCNH2-related disorder
p.Asn819fs Multiple submitters long QT syndrome 2
p.Asp1037fs Multiple submitters long QT syndrome
p.Asp460fs Multiple submitters long QT syndrome
p.Asp609Asn Multiple submitters KCNH2-related disorder
p.Cys276fs Multiple submitters long QT syndrome
p.Cys49Ter Multiple submitters long QT syndrome
p.Cys52fs Multiple submitters cardiac rhythm disease
p.Cys977Ter Multiple submitters long QT syndrome
p.Gln11Ter Multiple submitters long QT syndrome
p.Gln335Ter Multiple submitters Cardiovascular phenotype
p.Gln391Ter Multiple submitters KCNH2-related disorder
p.Gln664Ter Multiple submitters long QT syndrome
p.Gln676Ter Multiple submitters long QT syndrome
p.Gln702Ter Multiple submitters cardiac rhythm disease
p.Glu177Ter Multiple submitters long QT syndrome 2
p.Glu229Ter Multiple submitters Cardiovascular phenotype
p.Glu444Ter Multiple submitters long QT syndrome
p.Glu50Ter Multiple submitters Cardiovascular phenotype
p.Glu544fs Multiple submitters cardiac rhythm disease
p.Glu682fs Multiple submitters KCNH2-related disorder
p.Glu807fs Multiple submitters long QT syndrome
p.Glu876Ter Multiple submitters long QT syndrome
p.Gly1006fs Multiple submitters long QT syndrome 2
p.Gly189fs Multiple submitters Cardiovascular phenotype
p.Gly381fs Multiple submitters cardiac rhythm disease
p.Gly53Asp Multiple submitters KCNH2-related disorder
p.Gly572Ser Multiple submitters KCNH2-related disorder ⚠
p.Gly604Ser Multiple submitters KCNH2-related disorder
p.Gly71Arg Multiple submitters long QT syndrome
p.Gly925fs Multiple submitters Cardiovascular phenotype
p.Gly965fs Multiple submitters Cardiovascular phenotype
p.Gly969fs Multiple submitters Cardiovascular phenotype
p.Gly970fs Multiple submitters long QT syndrome
p.Ile500_Phe508del Multiple submitters KCNH2-related disorder
p.Ile593Arg Multiple submitters Cardiovascular phenotype
p.Leu296fs Multiple submitters long QT syndrome
p.Leu552Ser Multiple submitters KCNH2-related disorder
p.Leu552Ter Multiple submitters long QT syndrome
p.Lys135fs Multiple submitters long QT syndrome
p.Lys28Ter Multiple submitters long QT syndrome
p.Lys832Ter Multiple submitters Cardiovascular phenotype
p.Met645Val Multiple submitters KCNH2-related disorder
p.Met651_Tyr652insTer Multiple submitters long QT syndrome
p.Phe125fs Multiple submitters cardiac rhythm disease
p.Phe627Leu Multiple submitters long QT syndrome
p.Pro1076fs Multiple submitters Cardiovascular phenotype
p.Pro191fs Multiple submitters long QT syndrome
p.Pro902fs Multiple submitters Cardiovascular phenotype
p.Pro963fs Multiple submitters cardiac rhythm disease
p.Pro968fs Multiple submitters KCNH2-related disorder
p.Ser182Ter Multiple submitters Cardiovascular phenotype
p.Ser250Ter Multiple submitters Cardiovascular phenotype
p.Ser284fs Multiple submitters long QT syndrome
p.Ser304fs Multiple submitters long QT syndrome
p.Ser331fs Multiple submitters long QT syndrome
p.Ser55Ter Multiple submitters long QT syndrome
p.Ser641Phe Multiple submitters KCNH2-related disorder
p.Ser641Tyr Multiple submitters long QT syndrome
p.Ser818Leu Multiple submitters Cardiovascular phenotype
p.Thr152fs Multiple submitters KCNH2-related disorder
p.Thr618Ile Multiple submitters long QT syndrome
p.Trp1001Ter Multiple submitters long QT syndrome
p.Trp154Ter Multiple submitters long QT syndrome
p.Trp398Ter Multiple submitters Cardiovascular phenotype
p.Trp563Ter Multiple submitters long QT syndrome
p.Trp568Ter Multiple submitters KCNH2-related disorder
p.Trp705fs Multiple submitters Cardiovascular phenotype
p.Trp927Ter Multiple submitters long QT syndrome
p.Tyr1009Ter Multiple submitters long QT syndrome
p.Tyr43Cys Multiple submitters long QT syndrome
p.Tyr652fs Multiple submitters Cardiovascular phenotype
p.Tyr652Ter Multiple submitters long QT syndrome
p.Tyr99Ter Multiple submitters Cardiovascular phenotype
p.Val1038fs Multiple submitters long QT syndrome
p.Val222fs Multiple submitters Cardiovascular phenotype
p.Val822Met Multiple submitters Cardiovascular phenotype
c.1557+1G>A Single submitter Cardiovascular phenotype
c.1557+2T>C Single submitter long QT syndrome 2
c.1720_1945+102del Single submitter long QT syndrome
c.1946-1G>C Single submitter long QT syndrome
c.2145+1G>T Single submitter
c.2146-50_2167del Single submitter long QT syndrome
c.2398+1_2398+8del Single submitter
c.2398+1G>C Single submitter long QT syndrome 2
c.2399-28del Single submitter long QT syndrome 2
c.2692+1G>T Single submitter hypertrophic cardiomyopathy 26
c.2693-2A>T Single submitter
c.2966-3C>G Single submitter
c.307+1del Single submitter long QT syndrome
c.3152+2T>C Single submitter
c.3194_3330+68del Single submitter long QT syndrome
c.3330+1G>A Single submitter Cardiovascular phenotype
c.76+2T>G Single submitter
p.Ala1124fs Single submitter long QT syndrome
p.Ala223fs Single submitter long QT syndrome
p.Ala253fs Single submitter long QT syndrome
p.Ala282fs Single submitter KCNH2-related disorder
p.Ala32Val Single submitter long QT syndrome 2
p.Ala527fs Single submitter long QT syndrome
p.Ala561Pro Single submitter Cardiovascular phenotype
p.Ala746fs Single submitter Cardiovascular phenotype
p.Ala753fs Single submitter long QT syndrome
p.Ala78fs Single submitter long QT syndrome 2
p.Ala913fs Single submitter Cardiovascular phenotype
p.Arg1014fs Single submitter long QT syndrome
p.Arg1032fs Single submitter Cardiovascular phenotype
p.Arg269fs Single submitter long QT syndrome
p.Arg271fs Single submitter Cardiovascular phenotype
p.Arg394fs Single submitter long QT syndrome
p.Arg528fs Single submitter long QT syndrome 2
p.Arg541fs Single submitter Cardiovascular phenotype
p.Arg56fs Single submitter long QT syndrome
p.Arg62Ter Single submitter long QT syndrome
p.Arg685fs Single submitter cardiac rhythm disease
p.Arg694fs Single submitter long QT syndrome
p.Arg734fs Single submitter
p.Arg77fs Single submitter Cardiovascular phenotype
p.Arg883fs Single submitter Cardiovascular phenotype
p.Arg885fs Single submitter long QT syndrome
p.Arg887fs Single submitter long QT syndrome
p.Arg893fs Single submitter cardiac rhythm disease
p.Arg894fs Single submitter long QT syndrome
p.Arg912fs Single submitter Cardiovascular phenotype
p.Asn220fs Single submitter long QT syndrome
p.Asn257fs Single submitter long QT syndrome
p.Asn629_Pro632delinsGluAla Single submitter long QT syndrome
p.Asn633His Single submitter long QT syndrome
p.Asn861Ser Single submitter ⚠
p.Asn985fs Single submitter
p.Asp1003fs Single submitter long QT syndrome
p.Asp102fs Single submitter long QT syndrome
p.Asp16fs Single submitter long QT syndrome
p.Asp259fs Single submitter
p.Asp286fs Single submitter long QT syndrome
p.Asp466Ala Single submitter long QT syndrome 2
p.Asp501Ala Single submitter long QT syndrome
p.Asp501Gly Single submitter familial long QT syndrome
p.Asp580fs Single submitter long QT syndrome
p.Asp609_Lys610del Single submitter long QT syndrome
p.Asp727_Ala772del Single submitter long QT syndrome
p.Asp793fs Single submitter Cardiovascular phenotype
p.Asp896fs Single submitter long QT syndrome
p.Asp976fs Single submitter Cardiovascular phenotype
p.Cys49Trp Single submitter
p.Cys52Ter Single submitter long QT syndrome
p.Cys566fs Single submitter long QT syndrome
p.Cys643Ter Single submitter
p.Cys66Ter Single submitter long QT syndrome
p.Cys740fs Single submitter long QT syndrome
p.Cys828fs Single submitter
p.Cys984Ter Single submitter
p.Gln1010Ter Single submitter long QT syndrome
p.Gln1046fs Single submitter cardiac rhythm disease
p.Gln1046Ter Single submitter Cardiovascular phenotype
p.Gln1068fs Single submitter
p.Gln1068Ter Single submitter long QT syndrome 2
p.Gln1070Ter Single submitter long QT syndrome
p.Gln25fs Single submitter long QT syndrome
p.Gln450fs Single submitter long QT syndrome
p.Gln576Ter Single submitter
p.Gln592Ter Single submitter long QT syndrome
p.Gln688fs Single submitter long QT syndrome
p.Gln688Ter Single submitter long QT syndrome
p.Gln695fs Single submitter
p.Gln702fs Single submitter long QT syndrome
p.Gln725Ter Single submitter long QT syndrome
p.Gln75fs Single submitter long QT syndrome
p.Gln81fs Single submitter long QT syndrome
p.Gln84Ter Single submitter Cardiovascular phenotype
p.Gln884Ter Single submitter long QT syndrome
p.Glu1011fs Single submitter
p.Glu1119Ter Single submitter long QT syndrome 2
p.Glu214Ter Single submitter
p.Glu230Ter Single submitter long QT syndrome
p.Glu289Ter Single submitter
p.Glu372fs Single submitter long QT syndrome
p.Glu58Ter Single submitter long QT syndrome
p.Glu637Lys Single submitter long QT syndrome
p.Glu682Ter Single submitter long QT syndrome
p.Glu857fs Single submitter Cardiovascular phenotype
p.Glu900fs Single submitter long QT syndrome
p.Glu90Ter Single submitter long QT syndrome
p.Glu971fs Single submitter long QT syndrome
p.Glu978fs Single submitter long QT syndrome
p.Glu978Ter Single submitter
p.Gly1036fs Single submitter long QT syndrome
p.Gly1085fs Single submitter long QT syndrome
p.Gly183fs Single submitter long QT syndrome
p.Gly187fs Single submitter Cardiovascular phenotype
p.Gly236fs Single submitter long QT syndrome
p.Gly246fs Single submitter Cardiovascular phenotype
p.Gly306fs Single submitter long QT syndrome
p.Gly439fs Single submitter
p.Gly446fs Single submitter long QT syndrome
p.Gly47Val Single submitter short QT syndrome type 1
p.Gly626fs Single submitter long QT syndrome
p.Gly628fs Single submitter
p.Gly657Cys Single submitter long QT syndrome
p.Gly71fs Single submitter long QT syndrome
p.Gly71Trp Single submitter long QT syndrome
p.Gly785fs Single submitter long QT syndrome
p.Gly785Val Single submitter familial long QT syndrome
p.Gly806Ala Single submitter
p.Gly873fs Single submitter long QT syndrome 2
p.Gly879fs Single submitter long QT syndrome
p.Gly911fs Single submitter
p.Gly921fs Single submitter cardiac rhythm disease
p.Gly924fs Single submitter long QT syndrome
p.Gly928fs Single submitter cardiac rhythm disease
p.Gly947fs Single submitter long QT syndrome
p.Gly989_Ala990insIleProGlyAspGlyArgAlaArgGluAspArgAlaTrpGlnArgTrpCysValTyrProAlaHisProAlaLeuLeuSerGlyCysArgArgLeuLeuArgSerValGlnHisPheGlnLeuLeuGlyGlyGlnSerGlyProProValProGlyAlaProSerMetProArgProHisProGlnProProGlnHisProProLeuGlnProValGlySerProTer Single submitter long QT syndrome 2
p.His1153fs Single submitter long QT syndrome
p.His302fs Single submitter long QT syndrome
p.His402fs Single submitter cardiac rhythm disease
p.His703fs Single submitter
p.His762fs Single submitter long QT syndrome
p.Ile31fs Single submitter long QT syndrome
p.Ile400fs Single submitter long QT syndrome
p.Ile571fs Single submitter long QT syndrome
p.Ile583fs Single submitter long QT syndrome
p.Ile593Lys Single submitter long QT syndrome
p.Ile607fs Single submitter familial long QT syndrome
p.Ile789fs Single submitter long QT syndrome
p.Ile82fs Single submitter
p.Leu1027fs Single submitter cardiac rhythm disease
p.Leu1045fs Single submitter
p.Leu1095fs Single submitter long QT syndrome
p.Leu155fs Single submitter long QT syndrome
p.Leu170fs Single submitter long QT syndrome
p.Leu171fs Single submitter long QT syndrome
p.Leu225fs Single submitter long QT syndrome
p.Leu248fs Single submitter Cardiovascular phenotype
p.Leu343fs Single submitter long QT syndrome
p.Leu433fs Single submitter long QT syndrome
p.Leu559fs Single submitter
p.Leu589fs Single submitter long QT syndrome
p.Leu602fs Single submitter long QT syndrome 2
p.Leu666fs Single submitter long QT syndrome
p.Leu69fs Single submitter Cardiovascular phenotype
p.Leu69Pro Single submitter long QT syndrome 2
p.Leu769fs Single submitter long QT syndrome
p.Leu838fs Single submitter long QT syndrome
p.Leu86Arg Single submitter short QT syndrome type 1
p.Leu953fs Single submitter long QT syndrome
p.Leu973fs Single submitter
p.Lys101Asn Single submitter
p.Lys101Ter Single submitter
p.Lys21fs Single submitter long QT syndrome
p.Lys28fs Single submitter long QT syndrome
p.Lys373fs Single submitter long QT syndrome
p.Lys638Arg Single submitter
p.Lys638fs Single submitter long QT syndrome 2
p.Lys979fs Single submitter long QT syndrome 2
p.Met124Arg Single submitter long QT syndrome
p.Met133fs Single submitter Cardiovascular phenotype
p.Met1fs Single submitter Cardiovascular phenotype
p.Met1Ile Single submitter long QT syndrome
p.Met291fs Single submitter
p.Met308fs Single submitter cardiac rhythm disease
p.Met462fs Single submitter Cardiovascular phenotype
p.Met554fs Single submitter Cardiovascular phenotype
p.Phe14fs Single submitter
p.Phe163fs Single submitter long QT syndrome
p.Phe656_Ile663del Single submitter long QT syndrome
p.Phe656fs Single submitter long QT syndrome 2
p.Phe720fs Single submitter long QT syndrome
p.Phe852fs Single submitter long QT syndrome
p.Phe891fs Single submitter long QT syndrome

Pathogenic/Likely pathogenic 82

c.1557+1G>C Multiple submitters Cardiovascular phenotype
c.1945+6T>C Multiple submitters Cardiovascular phenotype
c.1946-1G>A Multiple submitters KCNH2-related disorder
c.2145+1G>A Multiple submitters Cardiovascular phenotype
c.2398+1G>T Multiple submitters long QT syndrome
c.2399-2A>G Multiple submitters long QT syndrome
c.2592+1G>A Multiple submitters Cardiovascular phenotype
c.2966-2_2967dup Multiple submitters long QT syndrome
c.307_307+1delinsTT Multiple submitters long QT syndrome
c.3152+1G>T Multiple submitters long QT syndrome
c.472+1G>A Multiple submitters long QT syndrome
p.Ala1058fs Multiple submitters long QT syndrome
p.Ala490Thr Multiple submitters Cardiovascular phenotype
p.Ala561Val Multiple submitters KCNH2-related disorder
p.Ala78Thr Multiple submitters long QT syndrome 2
p.Arg273Ter Multiple submitters long QT syndrome 2
p.Arg56Leu Multiple submitters long QT syndrome
p.Arg582Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg752Gln Multiple submitters Cardiovascular phenotype
p.Arg752Trp Multiple submitters cardiac rhythm disease
p.Arg823Trp Multiple submitters KCNH2-related disorder
p.Asn996Ile Multiple submitters long QT syndrome
p.Asp287fs Multiple submitters KCNH2-related disorder
p.Asp501Asn Multiple submitters KCNH2-related disorder
p.Asp774Tyr Multiple submitters KCNH2-related disorder
p.Asp837Asn Multiple submitters long QT syndrome
p.Asp837Gly Multiple submitters cardiac rhythm disease
p.Gln1008Ter Multiple submitters long QT syndrome
p.Gln1065Ter Multiple submitters long QT syndrome 2
p.Gln376= Multiple submitters KCNH2-related disorder
p.Gln450Ter Multiple submitters long QT syndrome
p.Gln695Ter Multiple submitters long QT syndrome
p.Gln84fs Multiple submitters long QT syndrome
p.Gln901Ter Multiple submitters cardiac rhythm disease
p.Glu23Ter Multiple submitters long QT syndrome
p.Glu58Lys Multiple submitters KCNH2-related disorder
p.Glu929fs Multiple submitters KCNH2-related disorder
p.Gly1031fs Multiple submitters Cardiovascular phenotype
p.Gly47Cys Multiple submitters long QT syndrome 2
p.Gly53Arg Multiple submitters cardiac rhythm disease
p.Gly572Val Multiple submitters long QT syndrome
p.Gly584Ser Multiple submitters KCNH2-related disorder
p.Gly601Ser Multiple submitters Cardiovascular phenotype ⚠
p.Gly626Ser Multiple submitters long QT syndrome 2
p.Gly628Ser Multiple submitters KCNH2-related disorder
p.Gly71Glu Multiple submitters KCNH2-related disorder
p.His368fs Multiple submitters long QT syndrome 2
p.His562Arg Multiple submitters cardiac rhythm disease
p.His562Tyr Multiple submitters Cardiovascular phenotype
p.His70Arg Multiple submitters Cardiovascular phenotype ⚠
p.Ile571Val Multiple submitters Cardiovascular phenotype
p.Ile662fs Multiple submitters long QT syndrome
p.Leu380fs Multiple submitters long QT syndrome 2
p.Leu799fs Multiple submitters KCNH2-related disorder
p.Lys638del Multiple submitters KCNH2-related disorder
p.Phe431Leu Multiple submitters Cardiovascular phenotype
p.Phe805Cys Multiple submitters Cardiovascular phenotype
p.Phe805Ser Multiple submitters long QT syndrome
p.Pro1034fs Multiple submitters long QT syndrome
p.Pro298fs Multiple submitters long QT syndrome
p.Pro605Leu Multiple submitters KCNH2-related disorder
p.Pro632Ser Multiple submitters Cardiovascular phenotype
p.Pro721fs Multiple submitters KCNH2-related disorder
p.Pro72Gln Multiple submitters Cardiovascular phenotype
p.Pro72Leu Multiple submitters long QT syndrome
p.Pro910fs Multiple submitters Cardiovascular phenotype
p.Pro926fs Multiple submitters long QT syndrome
p.Ser1021fs Multiple submitters long QT syndrome
p.Ser1028fs Multiple submitters KCNH2-related long QT syndrome
p.Ser581Ter Multiple submitters long QT syndrome
p.Ser620Gly Multiple submitters long QT syndrome
p.Ser621Asn Multiple submitters long QT syndrome
p.Ser660Leu Multiple submitters KCNH2-related disorder
p.Ser668Ter Multiple submitters cardiac rhythm disease
p.Thr474Ile Multiple submitters KCNH2-related disorder
p.Thr613Met Multiple submitters KCNH2-related disorder
p.Thr623Ile Multiple submitters long QT syndrome
p.Thr634Ala Multiple submitters long QT syndrome 2
p.Thr74fs Multiple submitters long QT syndrome
p.Trp568fs Multiple submitters long QT syndrome
p.Tyr597Cys Multiple submitters long QT syndrome
p.Val625Ala Multiple submitters Cardiovascular phenotype

Likely pathogenic 174

c.1945+1G>A Multiple submitters KCNH2-related disorder
c.2146-1G>C Multiple submitters long QT syndrome
c.2966-2A>G Multiple submitters long QT syndrome
c.308-2A>G Multiple submitters long QT syndrome
c.76+1dup Multiple submitters Cardiovascular phenotype
c.76+2T>A Multiple submitters long QT syndrome
c.77-1G>A Multiple submitters long QT syndrome
p.Ala558Glu Multiple submitters long QT syndrome
p.Ala565Pro Multiple submitters Cardiovascular phenotype
p.Gly306Trp Multiple submitters long QT syndrome ⚠
p.Gly628Arg Multiple submitters Cardiovascular phenotype
p.His562Pro Multiple submitters long QT syndrome
p.Leu615Val Multiple submitters KCNH2-related disorder
p.Leu790Pro Multiple submitters long QT syndrome 2
p.Pro605Ser Multiple submitters long QT syndrome
p.Pro721Leu Multiple submitters long QT syndrome
p.Ser818Trp Multiple submitters long QT syndrome
p.Tyr493Cys Multiple submitters long QT syndrome
p.Val822Leu Multiple submitters Cardiovascular phenotype
c.1128+1G>A Single submitter long QT syndrome
c.1128+1G>C Single submitter Cardiovascular phenotype
c.1128+3_1128+15delinsGAC Single submitter KCNH2-related disorder
c.1128+5_1128+15delinsAC Single submitter long QT syndrome 2
c.1129-1G>C Single submitter KCNH2-related disorder
c.1129-831_3109dup Single submitter long QT syndrome
c.1558-1G>C Single submitter long QT syndrome
c.1945+1G>C Single submitter Cardiovascular phenotype
c.1946-4_1948del Single submitter long QT syndrome
c.2013_2145+77del Single submitter Cardiovascular phenotype
c.2145+2T>G Single submitter
c.2146-12_2146-2del Single submitter Cardiovascular phenotype
c.2146-1G>A Single submitter
c.2146-2A>G Single submitter long QT syndrome
c.2146-3_2146-1delinsAA Single submitter long QT syndrome
c.2398_2398+21del Single submitter long QT syndrome
c.2398+2T>G Single submitter long QT syndrome
c.2398+5G>A Single submitter long QT syndrome 2
c.2398+86_2398+120del Single submitter
c.2399-108_2488del Single submitter long QT syndrome
c.2592+2T>G Single submitter KCNH2-related disorder
c.2593-1G>C Single submitter long QT syndrome
c.(2692+1_2693-1 Single submitter Cardiovascular phenotype
c.2692+167_3153-109del Single submitter long QT syndrome 2
c.2692+1del Single submitter familial long QT syndrome
c.2692+1G>A Single submitter
c.2692+2_2692+4del Single submitter familial long QT syndrome
c.2692+5G>T Single submitter
c.3152+1G>C Single submitter KCNH2-related disorder
c.3153-1G>C Single submitter long QT syndrome
c.3153-84_3154del Single submitter KCNH2-related disorder
c.473-2A>C Single submitter long QT syndrome
c.473-2A>G Single submitter long QT syndrome
c.76_76+1del Single submitter long QT syndrome
c.76+1G>A Single submitter long QT syndrome
c.77-1G>T Single submitter cardiac rhythm disease
c.832_916+11del Single submitter Cardiovascular phenotype
c.910_916+11del Single submitter long QT syndrome
c.917-1G>T Single submitter Cardiovascular phenotype
c.917-2A>G Single submitter long QT syndrome
p.Ala1017fs Single submitter familial long QT syndrome
p.Ala185fs Single submitter
p.Ala350fs Single submitter
p.Ala360delinsProTer Single submitter KCNH2-related disorder
p.Ala40Val Single submitter
p.Ala422Asp Single submitter long QT syndrome
p.Ala430Asp Single submitter long QT syndrome
p.Ala565Gly Single submitter long QT syndrome ⚠
p.Ala565Val Single submitter
p.Arg242fs Single submitter long QT syndrome 2
p.Arg27fs Single submitter long QT syndrome 2
p.Arg531Gln Single submitter Cardiovascular phenotype
p.Arg534His Single submitter KCNH2-related disorder
p.Arg537Gln Single submitter
p.Arg56Gln Single submitter long QT syndrome
p.Arg56Trp Single submitter long QT syndrome 2
p.Arg582Leu Single submitter long QT syndrome
p.Asn45_Glu50delinsLys Single submitter
p.Asn45delinsLysSer Single submitter long QT syndrome 2
p.Asn588Lys Single submitter Cardiovascular phenotype ⚠
p.Asn629Lys Single submitter long QT syndrome
p.Asn635Asp Single submitter KCNH2-related disorder ⚠
p.Asn635Lys Single submitter long QT syndrome
p.Asn709fs Single submitter
p.Asp102Val Single submitter KCNH2-related disorder
p.Cys108Arg Single submitter long QT syndrome
p.Cys44Gly Single submitter KCNH2-related disorder
p.Cys49Phe Single submitter long QT syndrome 2
p.Cys555Arg Single submitter long QT syndrome 2
p.Cys566Gly Single submitter long QT syndrome 2
p.Glu1039fs Single submitter KCNH2-related disorder
p.Glu134Ter Single submitter long QT syndrome 2
p.Glu23Lys Single submitter Cardiovascular phenotype
p.Glu365fs Single submitter long QT syndrome 2
p.Glu387_Tyr388insTer Single submitter familial long QT syndrome
p.Glu435Ter Single submitter KCNH2-related disorder
p.Glu438Ter Single submitter KCNH2-related disorder
p.Glu58Gly Single submitter familial long QT syndrome
p.Glu699Ter Single submitter
p.Glu929Ter Single submitter Cardiovascular phenotype
p.Gly1087fs Single submitter long QT syndrome 2
p.Gly47Asp Single submitter KCNH2-related disorder
p.Gly572Ala Single submitter ⚠
p.Gly604Cys Single submitter long QT syndrome
p.Gly604Val Single submitter
p.Gly626Ala Single submitter long QT syndrome 2
p.Gly648Cys Single submitter KCNH2-related disorder
p.Gly657Val Single submitter
p.Gly816fs Single submitter long QT syndrome 2
p.Gly989fs Single submitter long QT syndrome 2
p.His1151fs Single submitter Cardiovascular phenotype
p.His309fs Single submitter KCNH2-related disorder
p.His703Gln Single submitter long QT syndrome 2
p.Ile31Asn Single submitter long QT syndrome 2
p.Ile31Thr Single submitter familial long QT syndrome
p.Ile593Val Single submitter familial long QT syndrome
p.Ile655Asn Single submitter long QT syndrome 2
p.Ile782Thr Single submitter long QT syndrome 2
p.Ile789Met Single submitter Cardiovascular phenotype
p.Leu1042fs Single submitter KCNH2-related disorder
p.Leu378fs Single submitter
p.Leu413Arg Single submitter long QT syndrome 2
p.Leu564Gln Single submitter long QT syndrome
p.Leu589Pro Single submitter long QT syndrome 2
p.Leu622His Single submitter
p.Leu776Phe Single submitter
p.Leu779fs Single submitter
p.Leu830fs Single submitter long QT syndrome 2
p.Leu987fs Single submitter cardiac rhythm disease
p.Lys21Ter Single submitter KCNH2-related disorder
p.Met1Thr Single submitter long QT syndrome 2
p.Met645Arg Single submitter long QT syndrome
p.Met651Arg Single submitter long QT syndrome 2
p.Phe29Leu Single submitter Cardiovascular phenotype
p.Phe340fs Single submitter KCNH2-related disorder
p.Phe805fs Single submitter
p.Pro72Arg Single submitter long QT syndrome
p.Ser178Ter Single submitter
p.Ser320Ter Single submitter
p.Ser624Ile Single submitter long QT syndrome 2
p.Ser631Cys Single submitter KCNH2-related disorder
p.Ser668fs Single submitter KCNH2-related disorder
p.Ser706fs Single submitter long QT syndrome 2
p.Thr1019fs Single submitter familial long QT syndrome
p.Thr473Ile Single submitter
p.Thr613Ala Single submitter long QT syndrome
p.Thr623Ser Single submitter long QT syndrome 2
p.Thr777fs Single submitter KCNH2-related disorder
p.Trp1001fs Single submitter KCNH2-related disorder
p.Trp410Ter Single submitter
p.Trp412Ter Single submitter Cardiovascular phenotype
p.Trp568_Tyr569insTer Single submitter KCNH2-related disorder
p.Trp568Cys Single submitter long QT syndrome
p.Trp585Ter Single submitter long QT syndrome 2
p.Tyr43Asn Single submitter long QT syndrome 2
p.Tyr43Ter Single submitter KCNH2-related disorder
p.Tyr475del Single submitter
p.Tyr542His Single submitter long QT syndrome
p.Tyr54Ter Single submitter
p.Tyr569His Single submitter long QT syndrome
p.Tyr616_Thr618del Single submitter
p.Tyr616Ser Single submitter long QT syndrome 2
p.Val113fs Single submitter
p.Val41Leu Single submitter ⚠
p.Val59Ala Single submitter long QT syndrome 2
p.Val59Glu Single submitter KCNH2-related disorder
p.Val625Leu Single submitter
p.Val630fs Single submitter KCNH2-related disorder
p.Val822Ala Single submitter
p.Val994Met Single submitter long QT syndrome 2 ⚠
c.307+2T>A No assertion criteria long QT syndrome
p.Ala570Ser No assertion criteria
p.Leu87Pro No assertion criteria familial long QT syndrome
p.Ser906fs No assertion criteria
p.Tyr611Asp No assertion criteria long QT syndrome

Conflicting classifications of pathogenicity 260

c.1128+1810C>T Single submitter cardiac rhythm disease
c.1128+1820_1128+1821del Single submitter cardiac rhythm disease
c.1128+1830C>T Single submitter long QT syndrome
c.1128+1860C>T Single submitter long QT syndrome
c.1128+1861G>A Single submitter cardiac rhythm disease
c.1128+1869C>T Single submitter cardiac rhythm disease
c.1128+1884G>A Single submitter long QT syndrome
c.1128+6C>T Single submitter cardiac rhythm disease
c.1557+6G>A Single submitter cardiac rhythm disease
c.1945+18C>T Single submitter short QT syndrome type 1
c.1946-4C>G Single submitter cardiac rhythm disease
c.1946-5C>T Single submitter long QT syndrome
c.2145+9A>T Single submitter long QT syndrome 2
c.2398+105del Single submitter cardiac rhythm disease
c.2398+10G>A Single submitter long QT syndrome
c.2398+156G>A Single submitter cardiac rhythm disease
c.2398+178C>T Single submitter cardiac rhythm disease
c.2398+234C>T Single submitter cardiac rhythm disease
c.2398+25G>T Single submitter cardiac rhythm disease
c.2398+4T>C Single submitter cardiac rhythm disease
c.2398+58C>G Single submitter cardiac rhythm disease
c.2398+5G>T Single submitter Cardiovascular phenotype
c.2398+98G>A Single submitter cardiac rhythm disease
c.2592+3G>A Single submitter Cardiovascular phenotype
c.2692+13A>G Single submitter Cardiovascular phenotype
c.2692+7C>T Single submitter short QT syndrome type 1
c.2965+11C>T Single submitter long QT syndrome 2
c.2965+15G>A Single submitter long QT syndrome
c.2966-12C>G Single submitter long QT syndrome
c.3153-3C>T Single submitter long QT syndrome
c.3153-5C>T Single submitter Cardiovascular phenotype
c.473-5C>T Single submitter Cardiovascular phenotype
c.76+3G>A Single submitter Cardiovascular phenotype
c.77-5C>A Single submitter cardiac rhythm disease
c.77-5C>G Single submitter Cardiovascular phenotype
c.77-5C>T Single submitter cardiac rhythm disease
c.77-6C>G Single submitter long QT syndrome
c.77-7C>A Single submitter long QT syndrome
c.916+1G>A Single submitter Cardiovascular phenotype ⚠
c.917-5C>T Single submitter Cardiovascular phenotype
c.917-8C>G Single submitter long QT syndrome
c.-1G>T Single submitter cardiac rhythm disease
c.-29GGCCCGCCC[3] Single submitter short QT syndrome type 1
p.184GAG[1] Single submitter Cardiovascular phenotype
p.Ala1017= Single submitter cardiac rhythm disease
p.Ala1116Val Single submitter long QT syndrome ⚠
p.Ala190Thr Single submitter long QT syndrome ⚠
p.Ala190Val Single submitter Cardiovascular phenotype ⚠
p.Ala233= Single submitter long QT syndrome
p.Ala285Val Single submitter long QT syndrome ⚠
p.Ala32Pro Single submitter Cardiovascular phenotype ⚠
p.Ala448Ser Single submitter long QT syndrome ⚠
p.Ala448Thr Single submitter cardiac rhythm disease ⚠
p.Ala490Val Single submitter long QT syndrome 2 ⚠
p.Ala548= Single submitter Cardiovascular phenotype
p.Ala57Val Single submitter KCNH2-related disorder
p.Ala671= Single submitter cardiac rhythm disease
p.Ala755Thr Single submitter cardiac rhythm disease ⚠
p.Ala78Val Single submitter long QT syndrome ⚠
p.Ala797Asp Single submitter Cardiovascular phenotype ⚠
p.Ala85Val Single submitter long QT syndrome ⚠
p.Ala913= Single submitter Cardiovascular phenotype
p.Ala913Val Single submitter cardiac rhythm disease ⚠
p.Arg100Gln Single submitter Cardiovascular phenotype ⚠
p.Arg100Gly Single submitter Cardiovascular phenotype ⚠
p.Arg100Trp Single submitter cardiac rhythm disease ⚠
p.Arg1032Gln Single submitter long QT syndrome ⚠
p.Arg1032Trp Single submitter Cardiovascular phenotype ⚠
p.Arg1047Cys Single submitter Cardiovascular phenotype ⚠
p.Arg1047Leu Single submitter cardiac rhythm disease ⚠
p.Arg148Gln Single submitter short QT syndrome type 1 ⚠
p.Arg148Trp Single submitter cardiac rhythm disease ⚠
p.Arg176Trp Single submitter cardiac rhythm disease ⚠
p.Arg27His Single submitter long QT syndrome ⚠
p.Arg328Cys Single submitter long QT syndrome ⚠
p.Arg356His Single submitter cardiac rhythm disease ⚠
p.Arg35Trp Single submitter KCNH2-related disorder ⚠
p.Arg397Cys Single submitter long QT syndrome ⚠
p.Arg472Pro Single submitter KCNH2-related disorder ⚠
p.Arg528Trp Single submitter long QT syndrome ⚠
p.Arg531Pro Single submitter long QT syndrome 2 ⚠
p.Arg531Trp Single submitter KCNH2-related disorder ⚠
p.Arg534Ser Single submitter long QT syndrome ⚠
p.Arg685Cys Single submitter cardiac rhythm disease ⚠
p.Arg685His Single submitter Cardiovascular phenotype ⚠
p.Arg784Gln Single submitter long QT syndrome ⚠
p.Arg784Trp Single submitter cardiac rhythm disease ⚠
p.Arg791Trp Single submitter Cardiovascular phenotype ⚠
p.Arg823Gln Single submitter KCNH2-related disorder ⚠
p.Arg885Cys Single submitter cardiac rhythm disease ⚠
p.Arg887His Single submitter long QT syndrome ⚠
p.Arg892Cys Single submitter Cardiovascular phenotype ⚠
p.Arg894His Single submitter Cardiovascular phenotype ⚠
p.Arg912Gln Single submitter long QT syndrome ⚠
p.Arg920Gln Single submitter cardiac rhythm disease ⚠
p.Arg922Gln Single submitter cardiac rhythm disease ⚠
p.Arg948Cys Single submitter cardiac rhythm disease ⚠
p.Arg948His Single submitter Cardiovascular phenotype ⚠
p.Asn1024= Single submitter Cardiovascular phenotype
p.Asn339Tyr Single submitter long QT syndrome 2 ⚠
p.Asn33Thr Single submitter cardiac rhythm disease ⚠
p.Asn45= Single submitter cardiac rhythm disease
p.Asn588Asp Single submitter long QT syndrome
p.Asn635Ile Single submitter long QT syndrome ⚠
p.Asn658Ser Single submitter long QT syndrome ⚠
p.Asn709= Single submitter Cardiovascular phenotype
p.Asp1003Tyr Single submitter cardiac rhythm disease ⚠
p.Asp102= Single submitter Cardiovascular phenotype
p.Asp1037= Single submitter Cardiovascular phenotype
p.Asp119His Single submitter Cardiovascular phenotype
p.Asp144Val Single submitter Cardiovascular phenotype ⚠
p.Asp213Gly Single submitter long QT syndrome ⚠
p.Asp509Asn Single submitter Cardiovascular phenotype ⚠
p.Asp580His Single submitter long QT syndrome ⚠
p.Asp609Gly Single submitter Cardiovascular phenotype ⚠
p.Asp837Tyr Single submitter long QT syndrome ⚠
p.Asp896Gly Single submitter Cardiovascular phenotype ⚠
p.Asp982Asn Single submitter Cardiovascular phenotype ⚠
p.Cys39Arg Single submitter KCNH2-related disorder ⚠
p.Cys44Tyr Single submitter long QT syndrome ⚠
p.Cys555Tyr Single submitter long QT syndrome ⚠
p.Cys66Tyr Single submitter long QT syndrome ⚠
p.Cys828Arg Single submitter long QT syndrome 2 ⚠
p.Cys977Phe Single submitter cardiac rhythm disease ⚠
p.Gln1068Arg Single submitter cardiac rhythm disease ⚠
p.Gln75= Single submitter Cardiovascular phenotype
p.Glu1119= Single submitter cardiac rhythm disease
p.Glu637Asp Single submitter Cardiovascular phenotype ⚠
p.Glu788Lys Single submitter long QT syndrome ⚠
p.Glu95Ala Single submitter Cardiovascular phenotype ⚠
p.Gly1036Asp Single submitter long QT syndrome ⚠
p.Gly149Ala Single submitter Cardiovascular phenotype ⚠
p.Gly246Cys Single submitter Cardiovascular phenotype ⚠
p.Gly345= Single submitter long QT syndrome
p.Gly487Ser Single submitter Cardiovascular phenotype ⚠
p.Gly53Cys Single submitter long QT syndrome ⚠
p.Gly584Cys Single submitter long QT syndrome ⚠
p.Gly594Asp Single submitter long QT syndrome ⚠
p.Gly601Asp Single submitter short QT syndrome type 1 ⚠
p.Gly603Asp Single submitter long QT syndrome ⚠
p.Gly657Ser Single submitter KCNH2-related disorder ⚠
p.Gly749Val Single submitter familial long QT syndrome ⚠
p.Gly785Asp Single submitter long QT syndrome ⚠
p.Gly806Glu Single submitter Cardiovascular phenotype ⚠
p.Gly903Arg Single submitter Cardiovascular phenotype ⚠
p.Gly924Ala Single submitter long QT syndrome ⚠
p.Gly924Glu Single submitter Cardiovascular phenotype ⚠
p.His147Arg Single submitter long QT syndrome ⚠
p.His309= Single submitter long QT syndrome
p.His402Arg Single submitter long QT syndrome ⚠
p.His492Tyr Single submitter KCNH2-related disorder ⚠
p.His562Gln Single submitter long QT syndrome ⚠
p.His731Pro Single submitter long QT syndrome ⚠
p.His771Arg Single submitter Cardiovascular phenotype ⚠
p.Ile19Ser Single submitter Cardiovascular phenotype ⚠
p.Ile288= Single submitter long QT syndrome 2
p.Ile42Phe Single submitter long QT syndrome 2 ⚠
p.Ile42Thr Single submitter long QT syndrome ⚠
p.Ile593Thr Single submitter Cardiovascular phenotype ⚠
p.Ile607Phe Single submitter Cardiovascular phenotype ⚠
p.Ile639Phe Single submitter long QT syndrome ⚠
p.Ile787Asn Single submitter long QT syndrome ⚠
p.Ile82Thr Single submitter long QT syndrome ⚠
p.Leu1027Ile Single submitter Cardiovascular phenotype ⚠
p.Leu1042Pro Single submitter Cardiovascular phenotype ⚠
p.Leu1045Phe Single submitter Cardiovascular phenotype ⚠
p.Leu1108Val Single submitter Cardiovascular phenotype ⚠
p.Leu1150Met Single submitter cardiac rhythm disease ⚠
p.Leu127Phe Single submitter ⚠
p.Leu499Arg Single submitter Cardiovascular phenotype ⚠
p.Leu532Pro Single submitter long QT syndrome 2 ⚠
p.Leu559Phe Single submitter Cardiovascular phenotype ⚠
p.Leu602Pro Single submitter Cardiovascular phenotype ⚠
p.Leu615Phe Single submitter long QT syndrome ⚠
p.Leu693Pro Single submitter Inborn genetic diseases ⚠
p.Leu732Pro Single submitter Cardiovascular phenotype ⚠
p.Leu889Val Single submitter cardiac rhythm disease ⚠
p.Leu955Val Single submitter cardiac rhythm disease ⚠
p.Lys101Glu Single submitter long QT syndrome ⚠
p.Lys407Glu Single submitter long QT syndrome 2 ⚠
p.Lys610Glu Single submitter long QT syndrome ⚠
p.Lys638Glu Single submitter long QT syndrome ⚠
p.Lys897Arg Single submitter cardiac rhythm disease ⚠
p.Met308Thr Single submitter long QT syndrome ⚠
p.Met756Val Single submitter long QT syndrome ⚠
p.Met867Thr Single submitter Cardiovascular phenotype ⚠
p.Phe129Leu Single submitter Cardiovascular phenotype ⚠
p.Phe640del Single submitter long QT syndrome
p.Phe640Leu Single submitter long QT syndrome 2 ⚠
p.Phe640Ser Single submitter long QT syndrome ⚠
p.Phe68Leu Single submitter Cardiovascular phenotype ⚠
p.Pro1030Leu Single submitter short QT syndrome type 1 ⚠
p.Pro1084Leu Single submitter cardiac rhythm disease ⚠
p.Pro1122Leu Single submitter Cardiovascular phenotype ⚠
p.Pro1125Ala Single submitter short QT syndrome type 1 ⚠
p.Pro114= Single submitter Cardiovascular phenotype
p.Pro114Ser Single submitter long QT syndrome ⚠
p.Pro141Leu Single submitter Cardiovascular phenotype ⚠
p.Pro310= Single submitter Cardiovascular phenotype
p.Pro334Leu Single submitter long QT syndrome ⚠
p.Pro347Ser Single submitter cardiac rhythm disease ⚠
p.Pro393Leu Single submitter long QT syndrome 2 ⚠
p.Pro440= Single submitter cardiac rhythm disease
p.Pro451Leu Single submitter long QT syndrome ⚠
p.Pro507Leu Single submitter Cardiovascular phenotype ⚠
p.Pro632Ala Single submitter Cardiovascular phenotype ⚠
p.Pro63His Single submitter Cardiovascular phenotype ⚠
p.Pro72Ser Single submitter KCNH2-related disorder ⚠
p.Pro846Ser Single submitter KCNH2-related disorder ⚠
p.Pro869= Single submitter Cardiovascular phenotype
p.Pro910Leu Single submitter cardiac rhythm disease ⚠
p.Pro917Leu Single submitter Cardiovascular phenotype ⚠
p.Pro923Leu Single submitter long QT syndrome ⚠
p.Pro931Leu Single submitter long QT syndrome ⚠
p.Pro963Thr Single submitter Cardiovascular phenotype ⚠
p.Ser351Leu Single submitter long QT syndrome ⚠
p.Ser428Leu Single submitter long QT syndrome ⚠
p.Ser428Pro Single submitter long QT syndrome ⚠
p.Ser55Leu Single submitter Cardiovascular phenotype ⚠
p.Ser818= Single submitter Cardiovascular phenotype
p.Ser906Leu Single submitter cardiac rhythm disease ⚠
p.Ser932= Single submitter long QT syndrome
p.Ser937Asn Single submitter Cardiovascular phenotype ⚠
p.Ser981Gly Single submitter Cardiovascular phenotype ⚠
p.Thr1083Ala Single submitter Cardiovascular phenotype ⚠
p.Thr1146Ser Single submitter Cardiovascular phenotype ⚠
p.Thr13Asn Single submitter Cardiovascular phenotype ⚠
p.Thr421= Single submitter long QT syndrome
p.Thr421Met Single submitter long QT syndrome 2 ⚠
p.Thr473Asn Single submitter familial long QT syndrome ⚠
p.Thr473Pro Single submitter KCNH2-related disorder ⚠
p.Thr74Arg Single submitter long QT syndrome ⚠
p.Thr74Met Single submitter long QT syndrome ⚠
p.Thr777= Single submitter Cardiovascular phenotype
p.Thr895Met Single submitter long QT syndrome ⚠
p.Thr899Met Single submitter Cardiovascular phenotype ⚠
p.Thr983Ile Single submitter Cardiovascular phenotype ⚠
p.Trp563Cys Single submitter long QT syndrome ⚠
p.Trp568Ser Single submitter long QT syndrome ⚠
p.Trp585Leu Single submitter long QT syndrome ⚠
p.Trp927Leu Single submitter Cardiovascular phenotype ⚠
p.Tyr427Cys Single submitter Cardiovascular phenotype ⚠
p.Tyr427Ser Single submitter long QT syndrome ⚠
p.Tyr447= Single submitter Cardiovascular phenotype
p.Tyr545= Single submitter long QT syndrome
p.Tyr54His Single submitter Cardiovascular phenotype ⚠
p.Tyr54Ser Single submitter long QT syndrome ⚠
p.Tyr569= Single submitter cardiac rhythm disease
p.Tyr99Cys Single submitter KCNH2-related disorder ⚠
p.Val1038Leu Single submitter cardiac rhythm disease ⚠
p.Val1038Met Single submitter Cardiovascular phenotype ⚠
p.Val1063Leu Single submitter long QT syndrome ⚠
p.Val132= Single submitter long QT syndrome
p.Val409Met Single submitter cardiac rhythm disease ⚠
p.Val503= Single submitter Cardiovascular phenotype
p.Val533Met Single submitter cardiac rhythm disease ⚠
p.Val630Ile Single submitter Cardiovascular phenotype ⚠
p.Val630Leu Single submitter long QT syndrome ⚠
p.Val796Leu Single submitter Cardiovascular phenotype ⚠
p.Val94Gly Single submitter long QT syndrome ⚠

Benign 55

c.1128+1769G>A Multiple submitters
c.1128+1960A>G Multiple submitters
c.1128+2093G>C Multiple submitters
c.1558-63C>G Multiple submitters
c.2145+39G>C Multiple submitters
c.2145+40G>A Multiple submitters
c.2146-61A>G Multiple submitters
c.2593-51C>T Multiple submitters
c.2693-57C>T Multiple submitters
c.307+122C>T Multiple submitters
c.307+30C>T Multiple submitters
c.308-271C>T Multiple submitters
c.308-377T>G Multiple submitters long QT syndrome
c.472+78C>T Multiple submitters
c.473-34A>G Multiple submitters
c.473-53C>T Multiple submitters
p.Gly603= Multiple submitters Cardiovascular phenotype
p.Tyr652= Multiple submitters Cardiovascular phenotype
c.1128+13C>T Single submitter long QT syndrome
c.1128+1497G>A Single submitter
c.1128+1776G>T Single submitter cardiac rhythm disease
c.1128+233A>G Single submitter
c.1128+55del Single submitter
c.1129-244G>A Single submitter
c.1557+111GAGAAAGA[3] Single submitter
c.1557+253del Single submitter
c.1945+96dup Single submitter
c.1946-3dup Single submitter long QT syndrome
c.1946-63G>C Single submitter
c.2145+96dup Single submitter
c.2145+98dup Single submitter
c.2398+155C>A Single submitter cardiac rhythm disease
c.2398+353T>C Single submitter
c.2398+372A>T Single submitter
c.2399-61T>C Single submitter
c.2593-16C>T Single submitter
c.2692+32C>G Single submitter
c.2965+35G>A Single submitter
c.3152+22G>A Single submitter
c.3330+22T>C Single submitter
c.3331-13del Single submitter cardiac rhythm disease
c.3331-14del Single submitter cardiac rhythm disease
c.76+161G>C Single submitter
c.76+17del Single submitter long QT syndrome
c.77-134dup Single submitter
c.917-230A>G Single submitter
c.917-33dup Single submitter
c.917-34G>A Single submitter
c.917-53G>A Single submitter
c.-19G>A Single submitter
c.-21_-20insT Single submitter
c.*397T>C Single submitter long QT syndrome 2
c.*92C>T Single submitter long QT syndrome 2
p.Leu109Arg Single submitter long QT syndrome 2 ⚠
p.Val533Gly Single submitter

Benign/Likely benign 70

c.1128+1784C>T Multiple submitters cardiac rhythm disease
c.1128+1865C>T Multiple submitters long QT syndrome
c.1128+7G>A Multiple submitters long QT syndrome
c.1129-18C>T Multiple submitters long QT syndrome
c.1558-5C>T Multiple submitters long QT syndrome 2
c.1558-6C>T Multiple submitters cardiac rhythm disease
c.1946-19C>T Multiple submitters long QT syndrome
c.2145+15G>T Multiple submitters
c.2145+16C>T Multiple submitters long QT syndrome
c.2146-16C>T Multiple submitters long QT syndrome
c.2146-9T>G Multiple submitters cardiac rhythm disease
c.2398+16C>T Multiple submitters cardiac rhythm disease
c.2398+179G>A Multiple submitters cardiac rhythm disease
c.2398+328C>T Multiple submitters
c.2593-9del Multiple submitters cardiac rhythm disease
c.2692+18A>G Multiple submitters long QT syndrome
c.2965+12G>A Multiple submitters long QT syndrome
c.2965+14C>T Multiple submitters long QT syndrome
c.308-2278C>T Multiple submitters
c.3152+12C>A Multiple submitters long QT syndrome
c.3153-15C>T Multiple submitters long QT syndrome
c.3153-18C>T Multiple submitters long QT syndrome
c.3153-4C>T Multiple submitters Cardiovascular phenotype
c.3331-13GT[2] Multiple submitters cardiac rhythm disease
c.916+14G>T Multiple submitters
c.916+15G>A Multiple submitters
c.-29GGCCCGCCC[1] Multiple submitters cardiac rhythm disease
c.*15G>A Multiple submitters Cardiovascular phenotype
c.*190C>T Multiple submitters long QT syndrome 2
p.Ala1116= Multiple submitters Cardiovascular phenotype
p.Ala233Ser Multiple submitters Cardiovascular phenotype
p.Ala527= Multiple submitters Cardiovascular phenotype
p.Ala561= Multiple submitters cardiac rhythm disease
p.Arg1055Gln Multiple submitters cardiac rhythm disease
p.Arg181Gln Multiple submitters Cardiovascular phenotype
p.Asn117= Multiple submitters Cardiovascular phenotype
p.Asn479= Multiple submitters cardiac rhythm disease
p.Asn629= Multiple submitters long QT syndrome
p.Asp383= Multiple submitters cardiac rhythm disease
p.Glu1130= Multiple submitters cardiac rhythm disease
p.Glu444= Multiple submitters Cardiovascular phenotype
p.Gly192= Multiple submitters long QT syndrome
p.Gly873Ser Multiple submitters cardiac rhythm disease
p.His147= Multiple submitters cardiac rhythm disease
p.His739= Multiple submitters Cardiovascular phenotype
p.Ile500= Multiple submitters Cardiovascular phenotype
p.Ile560= Multiple submitters cardiac rhythm disease
p.Ile662= Multiple submitters
p.Ile711= Multiple submitters Cardiovascular phenotype
p.Ile787= Multiple submitters Cardiovascular phenotype
p.Ile804= Multiple submitters cardiac rhythm disease
p.Leu564= Multiple submitters Cardiovascular phenotype
p.Leu730= Multiple submitters long QT syndrome
p.Leu811= Multiple submitters long QT syndrome
p.Phe513= Multiple submitters Cardiovascular phenotype
p.Phe998= Multiple submitters cardiac rhythm disease
p.Pro1016= Multiple submitters long QT syndrome
p.Pro1122= Multiple submitters long QT syndrome
p.Pro352= Multiple submitters Cardiovascular phenotype
p.Pro451= Multiple submitters Cardiovascular phenotype
p.Pro967Leu Multiple submitters cardiac rhythm disease
p.Pro968= Multiple submitters Cardiovascular phenotype
p.Ser1021= Multiple submitters Cardiovascular phenotype
p.Ser1107= Multiple submitters cardiac rhythm disease
p.Ser207= Multiple submitters long QT syndrome 2
p.Ser261= Multiple submitters long QT syndrome
p.Ser313= Multiple submitters long QT syndrome
p.Ser600= Multiple submitters cardiac rhythm disease
p.Ser641= Multiple submitters Cardiovascular phenotype
p.Thr1072= Multiple submitters Cardiovascular phenotype

Likely benign 884

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

c.1128+131G>A Multiple submitters
c.1128+1777C>T Multiple submitters cardiac rhythm disease
c.1128+1802C>G Multiple submitters cardiac rhythm disease
c.1128+1811G>A Multiple submitters long QT syndrome
c.1128+1852G>A Multiple submitters cardiac rhythm disease
c.1128+1868G>C Multiple submitters long QT syndrome
c.1128+1870G>A Multiple submitters cardiac rhythm disease
c.1128+1883C>T Multiple submitters long QT syndrome
c.1128+18G>A Multiple submitters long QT syndrome
c.1128+2019G>A Multiple submitters
c.1129-6G>T Multiple submitters cardiac rhythm disease
c.1129-9C>T Multiple submitters cardiac rhythm disease
c.1558-18C>A Multiple submitters long QT syndrome
c.1558-20G>A Multiple submitters long QT syndrome
c.1558-4C>T Multiple submitters long QT syndrome
c.1558-8T>A Multiple submitters cardiac rhythm disease
c.1945+13del Multiple submitters long QT syndrome
c.1945+20G>A Multiple submitters long QT syndrome
c.1946-14G>A Multiple submitters long QT syndrome
c.1946-16G>A Multiple submitters long QT syndrome
c.1946-7C>T Multiple submitters long QT syndrome
c.1946-8G>A Multiple submitters long QT syndrome
c.1946-9C>T Multiple submitters cardiac rhythm disease
c.2146-10C>A Multiple submitters long QT syndrome
c.2146-14C>A Multiple submitters cardiac rhythm disease
c.2146-15C>A Multiple submitters long QT syndrome
c.2146-8G>A Multiple submitters cardiac rhythm disease
c.2398+155C>T Multiple submitters cardiac rhythm disease
c.2398+17G>T Multiple submitters cardiac rhythm disease
c.2398+59G>A Multiple submitters cardiac rhythm disease
c.2399-15C>T Multiple submitters long QT syndrome
c.2399-6C>T Multiple submitters cardiac rhythm disease
c.2593-7G>A Multiple submitters cardiac rhythm disease
c.2692+14G>A Multiple submitters long QT syndrome
c.2692+7C>G Multiple submitters long QT syndrome
c.2692+8G>A Multiple submitters long QT syndrome
c.2693-131G>T Multiple submitters
c.2693-48C>T Multiple submitters
c.2693-5C>T Multiple submitters long QT syndrome
c.2965+18C>T Multiple submitters long QT syndrome
c.2965+7C>T Multiple submitters long QT syndrome
c.2965+8G>A Multiple submitters long QT syndrome
c.2966-20G>A Multiple submitters long QT syndrome
c.2966-4G>A Multiple submitters Cardiovascular phenotype
c.307+14G>A Multiple submitters long QT syndrome
c.308-4G>A Multiple submitters long QT syndrome
c.3153-10C>A Multiple submitters long QT syndrome
c.3153-13C>T Multiple submitters cardiac rhythm disease
c.3153-14A>G Multiple submitters long QT syndrome
c.3153-6C>T Multiple submitters cardiac rhythm disease
c.3153-9C>T Multiple submitters long QT syndrome
c.3331-9G>A Multiple submitters long QT syndrome
c.473-7C>T Multiple submitters short QT syndrome type 1
c.76+18C>T Multiple submitters long QT syndrome
c.76+37T>G Multiple submitters
c.77-10G>C Multiple submitters cardiac rhythm disease
c.77-12C>G Multiple submitters cardiac rhythm disease
c.77-13C>T Multiple submitters long QT syndrome
c.77-4C>T Multiple submitters long QT syndrome
c.77-9C>T Multiple submitters cardiac rhythm disease
c.916+14_916+15delinsTA Multiple submitters long QT syndrome
c.917-10C>T Multiple submitters long QT syndrome
c.917-13C>T Multiple submitters long QT syndrome
c.917-14G>A Multiple submitters cardiac rhythm disease
c.917-16C>G Multiple submitters long QT syndrome
c.917-16del Multiple submitters long QT syndrome
c.917-18C>T Multiple submitters long QT syndrome
c.*112C>T Multiple submitters long QT syndrome 2
p.Ala1044= Multiple submitters Cardiovascular phenotype
p.Ala142= Multiple submitters long QT syndrome
p.Ala156= Multiple submitters Cardiovascular phenotype
p.Ala175Asp Multiple submitters Cardiovascular phenotype
p.Ala188= Multiple submitters Cardiovascular phenotype
p.Ala193= Multiple submitters Cardiovascular phenotype
p.Ala253= Multiple submitters Cardiovascular phenotype
p.Ala290= Multiple submitters Cardiovascular phenotype
p.Ala32= Multiple submitters cardiac rhythm disease
p.Ala34= Multiple submitters Cardiovascular phenotype
p.Ala382= Multiple submitters Cardiovascular phenotype
p.Ala408= Multiple submitters Cardiovascular phenotype
p.Ala422= Multiple submitters Cardiovascular phenotype
p.Ala490= Multiple submitters long QT syndrome
p.Ala536= Multiple submitters Cardiovascular phenotype
p.Ala547= Multiple submitters cardiac rhythm disease
p.Ala558= Multiple submitters cardiac rhythm disease
p.Ala755= Multiple submitters cardiac rhythm disease
p.Ala772= Multiple submitters long QT syndrome
p.Ala83= Multiple submitters long QT syndrome
p.Ala85= Multiple submitters long QT syndrome
p.Ala89= Multiple submitters cardiac rhythm disease
p.Ala9= Multiple submitters cardiac rhythm disease
p.Ala907= Multiple submitters cardiac rhythm disease
p.Arg1007= Multiple submitters Cardiovascular phenotype
p.Arg1032= Multiple submitters Cardiovascular phenotype
p.Arg1035= Multiple submitters long QT syndrome
p.Arg1055= Multiple submitters cardiac rhythm disease
p.Arg1069= Multiple submitters long QT syndrome
p.Arg159= Multiple submitters long QT syndrome
p.Arg181= Multiple submitters long QT syndrome
p.Arg271= Multiple submitters Cardiovascular phenotype
p.Arg281= Multiple submitters Cardiovascular phenotype
p.Arg397= Multiple submitters Cardiovascular phenotype
p.Arg534= Multiple submitters long QT syndrome
p.Arg56= Multiple submitters cardiac rhythm disease
p.Arg582= Multiple submitters Cardiovascular phenotype
p.Arg62= Multiple submitters long QT syndrome
p.Arg679= Multiple submitters Cardiovascular phenotype
p.Arg685= Multiple submitters Cardiovascular phenotype
p.Arg73= Multiple submitters cardiac rhythm disease
p.Arg883= Multiple submitters long QT syndrome
p.Arg893= Multiple submitters long QT syndrome
p.Arg92= Multiple submitters Cardiovascular phenotype
p.Arg920= Multiple submitters cardiac rhythm disease
p.Arg962= Multiple submitters cardiac rhythm disease
p.Asn12= Multiple submitters Cardiovascular phenotype
p.Asn339= Multiple submitters cardiac rhythm disease
p.Asn369= Multiple submitters long QT syndrome
p.Asn477= Multiple submitters long QT syndrome
p.Asn598= Multiple submitters long QT syndrome
p.Asn633= Multiple submitters long QT syndrome
p.Asn658= Multiple submitters long QT syndrome
p.Asn714= Multiple submitters cardiac rhythm disease
p.Asn819= Multiple submitters long QT syndrome
p.Asn866= Multiple submitters long QT syndrome
p.Asn985= Multiple submitters cardiac rhythm disease
p.Asp144= Multiple submitters Cardiovascular phenotype
p.Asp213= Multiple submitters Cardiovascular phenotype
p.Asp219= Multiple submitters Cardiovascular phenotype
p.Asp259= Multiple submitters Cardiovascular phenotype
p.Asp286= Multiple submitters Cardiovascular phenotype
p.Asp323= Multiple submitters long QT syndrome
p.Asp342= Multiple submitters Cardiovascular phenotype
p.Asp411= Multiple submitters long QT syndrome
p.Asp501= Multiple submitters long QT syndrome
p.Asp793= Multiple submitters Cardiovascular phenotype
p.Asp803= Multiple submitters Cardiovascular phenotype
p.Asp821= Multiple submitters long QT syndrome
p.Asp836= Multiple submitters Cardiovascular phenotype
p.Asp850= Multiple submitters long QT syndrome
p.Cys1015= Multiple submitters long QT syndrome
p.Cys105= Multiple submitters Cardiovascular phenotype
p.Cys44= Multiple submitters cardiac rhythm disease
p.Cys49= Multiple submitters long QT syndrome
p.Cys52= Multiple submitters long QT syndrome
p.Cys566= Multiple submitters long QT syndrome
p.Cys643= Multiple submitters long QT syndrome
p.Cys723= Multiple submitters Cardiovascular phenotype
p.Cys750= Multiple submitters long QT syndrome
p.Cys977= Multiple submitters Cardiovascular phenotype
p.Gln1008= Multiple submitters Cardiovascular phenotype
p.Gln11= Multiple submitters long QT syndrome
p.Gln1129= Multiple submitters Cardiovascular phenotype
p.Gln81= Multiple submitters long QT syndrome
p.Gln84= Multiple submitters long QT syndrome
p.Glu289= Multiple submitters Cardiovascular phenotype
p.Glu437= Multiple submitters cardiac rhythm disease
p.Glu575= Multiple submitters long QT syndrome
p.Glu699= Multiple submitters cardiac rhythm disease
p.Glu722= Multiple submitters long QT syndrome
p.Glu971= Multiple submitters Cardiovascular phenotype
p.Glu978Lys Multiple submitters cardiac rhythm disease
p.Gly1031= Multiple submitters Cardiovascular phenotype
p.Gly1036= Multiple submitters cardiac rhythm disease
p.Gly1087= Multiple submitters cardiac rhythm disease
p.Gly1131= Multiple submitters long QT syndrome
p.Gly1158= Multiple submitters long QT syndrome
p.Gly149= Multiple submitters Cardiovascular phenotype
p.Gly183= Multiple submitters Cardiovascular phenotype
p.Gly184= Multiple submitters Cardiovascular phenotype
p.Gly24= Multiple submitters cardiac rhythm disease
p.Gly262= Multiple submitters long QT syndrome
p.Gly306= Multiple submitters long QT syndrome
p.Gly381= Multiple submitters Cardiovascular phenotype
p.Gly522= Multiple submitters long QT syndrome
p.Gly6= Multiple submitters long QT syndrome
p.Gly604= Multiple submitters Cardiovascular phenotype
p.Gly626= Multiple submitters cardiac rhythm disease
p.Gly719= Multiple submitters long QT syndrome
p.Gly792= Multiple submitters Cardiovascular phenotype
p.Gly816= Multiple submitters long QT syndrome
p.Gly820= Multiple submitters long QT syndrome
p.Gly916= Multiple submitters Cardiovascular phenotype
p.Gly925= Multiple submitters Cardiovascular phenotype
p.Gly970= Multiple submitters long QT syndrome
p.His1153= Multiple submitters cardiac rhythm disease
p.His485= Multiple submitters cardiac rhythm disease
p.His492= Multiple submitters long QT syndrome
p.His7= Multiple submitters long QT syndrome
p.His703= Multiple submitters cardiac rhythm disease
p.His731= Multiple submitters long QT syndrome
p.Ile1025= Multiple submitters Cardiovascular phenotype
p.Ile18= Multiple submitters long QT syndrome
p.Ile330= Multiple submitters long QT syndrome
p.Ile414= Multiple submitters cardiac rhythm disease
p.Ile458= Multiple submitters Cardiovascular phenotype
p.Ile461= Multiple submitters long QT syndrome
p.Ile469= Multiple submitters Cardiovascular phenotype
p.Ile489= Multiple submitters cardiac rhythm disease
p.Ile506= Multiple submitters cardiac rhythm disease
p.Ile512= Multiple submitters long QT syndrome
p.Ile583= Multiple submitters Cardiovascular phenotype
p.Ile639= Multiple submitters Cardiovascular phenotype
p.Ile82= Multiple submitters cardiac rhythm disease
p.Ile868= Multiple submitters cardiac rhythm disease
p.Leu1027= Multiple submitters Cardiovascular phenotype
p.Leu1049= Multiple submitters Cardiovascular phenotype
p.Leu1066= Multiple submitters Cardiovascular phenotype
p.Leu109= Multiple submitters long QT syndrome
p.Leu173= Multiple submitters long QT syndrome
p.Leu225= Multiple submitters Cardiovascular phenotype
p.Leu234= Multiple submitters long QT syndrome
p.Leu296= Multiple submitters long QT syndrome
p.Leu311= Multiple submitters cardiac rhythm disease
p.Leu385= Multiple submitters long QT syndrome
p.Leu413= Multiple submitters long QT syndrome
p.Leu415= Multiple submitters Cardiovascular phenotype
p.Leu417= Multiple submitters long QT syndrome
p.Leu468= Multiple submitters cardiac rhythm disease
p.Leu499= Multiple submitters long QT syndrome
p.Leu511= Multiple submitters Cardiovascular phenotype
p.Leu523= Multiple submitters long QT syndrome
p.Leu530= Multiple submitters Cardiovascular phenotype
p.Leu532= Multiple submitters long QT syndrome
p.Leu550= Multiple submitters long QT syndrome
p.Leu666= Multiple submitters long QT syndrome
p.Leu693= Multiple submitters cardiac rhythm disease
p.Leu697= Multiple submitters cardiac rhythm disease
p.Leu736= Multiple submitters long QT syndrome
p.Leu737= Multiple submitters cardiac rhythm disease
p.Leu775= Multiple submitters long QT syndrome
p.Leu776= Multiple submitters long QT syndrome
p.Leu809= Multiple submitters cardiac rhythm disease
p.Leu825= Multiple submitters long QT syndrome
p.Leu862= Multiple submitters Cardiovascular phenotype
p.Leu877= Multiple submitters Cardiovascular phenotype
p.Lys608= Multiple submitters Cardiovascular phenotype
p.Lys610= Multiple submitters Cardiovascular phenotype
p.Lys93Arg Multiple submitters Cardiovascular phenotype
p.Phe129= Multiple submitters Cardiovascular phenotype
p.Phe14= Multiple submitters Cardiovascular phenotype
p.Phe29= Multiple submitters cardiac rhythm disease
p.Phe508= Multiple submitters long QT syndrome
p.Phe627= Multiple submitters Cardiovascular phenotype
p.Phe656= Multiple submitters Cardiovascular phenotype
p.Phe683= Multiple submitters long QT syndrome
p.Phe891= Multiple submitters cardiac rhythm disease
p.Pro1018= Multiple submitters cardiac rhythm disease
p.Pro1075= Multiple submitters long QT syndrome
p.Pro1084= Multiple submitters cardiac rhythm disease
p.Pro1086= Multiple submitters cardiac rhythm disease
p.Pro1093= Multiple submitters long QT syndrome
p.Pro1096= Multiple submitters cardiac rhythm disease
p.Pro1128= Multiple submitters Cardiovascular phenotype
p.Pro1157= Multiple submitters Cardiovascular phenotype
p.Pro141= Multiple submitters cardiac rhythm disease
p.Pro151= Multiple submitters long QT syndrome
p.Pro168= Multiple submitters long QT syndrome
p.Pro202= Multiple submitters Cardiovascular phenotype
p.Pro245= Multiple submitters long QT syndrome
p.Pro249= Multiple submitters Cardiovascular phenotype
p.Pro386= Multiple submitters long QT syndrome
p.Pro393= Multiple submitters cardiac rhythm disease
p.Pro486= Multiple submitters long QT syndrome
p.Pro596= Multiple submitters long QT syndrome
p.Pro72= Multiple submitters long QT syndrome
p.Pro764= Multiple submitters long QT syndrome
p.Pro815= Multiple submitters Cardiovascular phenotype
p.Pro872= Multiple submitters cardiac rhythm disease
p.Pro917= Multiple submitters long QT syndrome
p.Pro923= Multiple submitters Cardiovascular phenotype
p.Pro964= Multiple submitters Cardiovascular phenotype
p.Pro967= Multiple submitters cardiac rhythm disease
p.Pro972= Multiple submitters long QT syndrome
p.Pro986= Multiple submitters long QT syndrome
p.Ser1040= Multiple submitters long QT syndrome
p.Ser1092= Multiple submitters Cardiovascular phenotype
p.Ser1155= Multiple submitters Cardiovascular phenotype
p.Ser153= Multiple submitters cardiac rhythm disease
p.Ser243= Multiple submitters Cardiovascular phenotype
p.Ser266= Multiple submitters long QT syndrome
p.Ser272= Multiple submitters long QT syndrome
p.Ser278= Multiple submitters long QT syndrome
p.Ser283= Multiple submitters Cardiovascular phenotype
p.Ser322= Multiple submitters long QT syndrome
p.Ser351= Multiple submitters cardiac rhythm disease
p.Ser517= Multiple submitters Cardiovascular phenotype
p.Ser543= Multiple submitters Cardiovascular phenotype
p.Ser624= Multiple submitters Cardiovascular phenotype
p.Ser636= Multiple submitters cardiac rhythm disease
p.Ser660= Multiple submitters cardiac rhythm disease
p.Ser854= Multiple submitters long QT syndrome
p.Ser871= Multiple submitters cardiac rhythm disease
p.Ser890= Multiple submitters Cardiovascular phenotype
p.Ser906= Multiple submitters long QT syndrome
p.Ser919= Multiple submitters Cardiovascular phenotype
p.Ser936= Multiple submitters cardiac rhythm disease
p.Ser941= Multiple submitters long QT syndrome
p.Ser950= Multiple submitters long QT syndrome
p.Ser981= Multiple submitters long QT syndrome
p.Thr1054= Multiple submitters Cardiovascular phenotype

Uncertain significance 1493

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

c.2398+3A>G Multiple submitters long QT syndrome
c.2398+57G>T Multiple submitters
c.2399-3C>T Multiple submitters Cardiovascular phenotype
c.2966-8G>A Multiple submitters cardiac rhythm disease
c.307+6A>G Multiple submitters cardiac rhythm disease
c.473-3C>T Multiple submitters Cardiovascular phenotype
c.76+5G>A Multiple submitters long QT syndrome
c.76+5G>C Multiple submitters long QT syndrome
c.916+3G>A Multiple submitters long QT syndrome
c.-10T>G Multiple submitters long QT syndrome
c.-12C>T Multiple submitters cardiac rhythm disease
c.-207C>T Multiple submitters long QT syndrome 2
c.-3A>G Multiple submitters cardiac rhythm disease
c.-7G>A Multiple submitters cardiac rhythm disease
p.Ala1017Ser Multiple submitters cardiac rhythm disease ⚠
p.Ala1017Thr Multiple submitters cardiac rhythm disease ⚠
p.Ala1017Val Multiple submitters long QT syndrome ⚠
p.Ala1077Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala1144Thr Multiple submitters long QT syndrome ⚠
p.Ala121Val Multiple submitters cardiac rhythm disease ⚠
p.Ala142Thr Multiple submitters long QT syndrome ⚠
p.Ala160Ser Multiple submitters Cardiovascular phenotype ⚠
p.Ala172Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala175Ser Multiple submitters progressive familial heart block ⚠
p.Ala185Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala188Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala190_Pro191insAlaGlyAla Multiple submitters Cardiovascular phenotype
p.Ala193Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala203Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala228Pro Multiple submitters long QT syndrome 2 ⚠
p.Ala244Glu Multiple submitters Cardiovascular phenotype ⚠
p.Ala244Gly Multiple submitters Cardiovascular phenotype ⚠
p.Ala244Thr Multiple submitters long QT syndrome ⚠
p.Ala244Val Multiple submitters long QT syndrome ⚠
p.Ala260Pro Multiple submitters long QT syndrome ⚠
p.Ala260Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala268Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala282Pro Multiple submitters Cardiovascular phenotype ⚠
p.Ala285Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala290Pro Multiple submitters Cardiovascular phenotype ⚠
p.Ala293Thr Multiple submitters long QT syndrome ⚠
p.Ala32Thr Multiple submitters cardiac rhythm disease ⚠
p.Ala350Ser Multiple submitters long QT syndrome ⚠
p.Ala382Thr Multiple submitters long QT syndrome ⚠
p.Ala442Val Multiple submitters long QT syndrome 2 ⚠
p.Ala547Thr Multiple submitters long QT syndrome ⚠
p.Ala547Val Multiple submitters cardiac rhythm disease ⚠
p.Ala558Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala671Gly Multiple submitters long QT syndrome ⚠
p.Ala704Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala715Thr Multiple submitters long QT syndrome ⚠
p.Ala715Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala746Ser Multiple submitters long QT syndrome ⚠
p.Ala753Ser Multiple submitters cardiac rhythm disease ⚠
p.Ala778Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala79Ser Multiple submitters Cardiovascular phenotype ⚠
p.Ala79Thr Multiple submitters long QT syndrome 2 ⚠
p.Ala80Ser Multiple submitters Cardiovascular phenotype ⚠
p.Ala85Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala907Ser Multiple submitters cardiac rhythm disease ⚠
p.Ala907Thr Multiple submitters long QT syndrome ⚠
p.Ala913Glu Multiple submitters long QT syndrome ⚠
p.Ala915_Gly924del Multiple submitters long QT syndrome
p.Ala97Gly Multiple submitters Cardiovascular phenotype ⚠
p.Ala990Thr Multiple submitters cardiac rhythm disease ⚠
p.Ala9Val Multiple submitters cardiac rhythm disease ⚠
p.Arg1005Gln Multiple submitters cardiac rhythm disease ⚠
p.Arg1005Trp Multiple submitters cardiac rhythm disease ⚠
p.Arg1007Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg1007His Multiple submitters cardiac rhythm disease ⚠
p.Arg1014Gln Multiple submitters cardiac rhythm disease ⚠
p.Arg1032Gly Multiple submitters long QT syndrome ⚠
p.Arg1032Pro Multiple submitters cardiac rhythm disease ⚠
p.Arg1033Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg1035Gln Multiple submitters long QT syndrome ⚠
p.Arg1035Trp Multiple submitters cardiac rhythm disease ⚠
p.Arg1047His Multiple submitters Cardiovascular phenotype ⚠
p.Arg1051Ser Multiple submitters Cardiovascular phenotype ⚠
p.Arg1055Gly Multiple submitters long QT syndrome ⚠
p.Arg1055Trp Multiple submitters Cardiovascular phenotype ⚠
p.Arg1069Trp Multiple submitters long QT syndrome ⚠
p.Arg1134Ter Multiple submitters cardiac rhythm disease
p.Arg1135Cys Multiple submitters cardiac rhythm disease ⚠
p.Arg1135His Multiple submitters cardiac rhythm disease ⚠
p.Arg159His Multiple submitters Cardiovascular phenotype ⚠
p.Arg164His Multiple submitters Cardiovascular phenotype ⚠
p.Arg20Gly Multiple submitters long QT syndrome ⚠
p.Arg231Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg231Leu Multiple submitters long QT syndrome ⚠
p.Arg232_Ala233del Multiple submitters long QT syndrome
p.Arg232Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg232Leu Multiple submitters long QT syndrome 2 ⚠
p.Arg232Pro Multiple submitters Cardiovascular phenotype ⚠
p.Arg242Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg242Gly Multiple submitters long QT syndrome 2 ⚠
p.Arg252Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg252Pro Multiple submitters long QT syndrome ⚠
p.Arg271His Multiple submitters long QT syndrome ⚠
p.Arg273Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg280Cys Multiple submitters long QT syndrome ⚠
p.Arg292His Multiple submitters long QT syndrome ⚠
p.Arg301Leu Multiple submitters long QT syndrome ⚠
p.Arg301Ser Multiple submitters long QT syndrome
p.Arg312Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg312His Multiple submitters Cardiovascular phenotype ⚠
p.Arg312Leu Multiple submitters long QT syndrome ⚠
p.Arg312Pro Multiple submitters long QT syndrome ⚠
p.Arg326Cys Multiple submitters cardiac rhythm disease
p.Arg328His Multiple submitters cardiac rhythm disease ⚠
p.Arg356Cys Multiple submitters cardiac rhythm disease ⚠
p.Arg356Ser Multiple submitters cardiac rhythm disease
p.Arg366Gln Multiple submitters long QT syndrome ⚠
p.Arg394Cys Multiple submitters long QT syndrome ⚠
p.Arg394His Multiple submitters long QT syndrome ⚠
p.Arg397His Multiple submitters KCNH2-related disorder ⚠
p.Arg488Cys Multiple submitters cardiac rhythm disease ⚠
p.Arg488His Multiple submitters long QT syndrome ⚠
p.Arg528Gln Multiple submitters long QT syndrome ⚠
p.Arg534Leu Multiple submitters long QT syndrome ⚠
p.Arg537Trp Multiple submitters cardiac rhythm disease ⚠
p.Arg541Cys Multiple submitters cardiac rhythm disease ⚠
p.Arg541His Multiple submitters cardiac rhythm disease ⚠
p.Arg582His Multiple submitters cardiac rhythm disease ⚠
p.Arg582Pro Multiple submitters long QT syndrome ⚠
p.Arg62Gln Multiple submitters long QT syndrome ⚠
p.Arg672Cys Multiple submitters long QT syndrome ⚠
p.Arg672His Multiple submitters Cardiovascular phenotype ⚠
p.Arg679Gln Multiple submitters cardiac rhythm disease ⚠
p.Arg679Trp Multiple submitters Cardiovascular phenotype ⚠
p.Arg681Gln Multiple submitters cardiac rhythm disease ⚠
p.Arg693_Pro694insArg Multiple submitters Cardiovascular phenotype
p.Arg694Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg694His Multiple submitters long QT syndrome ⚠
p.Arg734Cys Multiple submitters cardiac rhythm disease ⚠
p.Arg744Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg744Gly Multiple submitters long QT syndrome ⚠
p.Arg76Leu Multiple submitters Cardiovascular phenotype ⚠
p.Arg784Pro Multiple submitters long QT syndrome ⚠
p.Arg791Gln Multiple submitters cardiac rhythm disease ⚠
p.Arg835Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg863Gln Multiple submitters long QT syndrome ⚠
p.Arg883Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg883Trp Multiple submitters long QT syndrome ⚠
p.Arg885His Multiple submitters Cardiovascular phenotype ⚠
p.Arg885Ser Multiple submitters long QT syndrome ⚠
p.Arg887Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg887Gly Multiple submitters Cardiovascular phenotype ⚠
p.Arg892His Multiple submitters short QT syndrome type 1 ⚠
p.Arg892Leu Multiple submitters long QT syndrome ⚠
p.Arg894Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg894Leu Multiple submitters cardiac rhythm disease ⚠
p.Arg912Trp Multiple submitters Cardiovascular phenotype ⚠
p.Arg920Gly Multiple submitters Cardiovascular phenotype ⚠
p.Arg920Trp Multiple submitters cardiac rhythm disease ⚠
p.Arg922Leu Multiple submitters long QT syndrome ⚠
p.Arg922Pro Multiple submitters cardiac rhythm disease ⚠
p.Arg922Trp Multiple submitters cardiac rhythm disease ⚠
p.Arg92Cys Multiple submitters cardiac rhythm disease ⚠
p.Arg92Leu Multiple submitters long QT syndrome
p.Arg954Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg954His Multiple submitters cardiac rhythm disease ⚠
p.Asn1024Ser Multiple submitters long QT syndrome ⚠
p.Asn128Ser Multiple submitters Cardiovascular phenotype ⚠
p.Asn257His Multiple submitters long QT syndrome ⚠
p.Asn317His Multiple submitters cardiac rhythm disease ⚠
p.Asn317Ser Multiple submitters long QT syndrome 2 ⚠
p.Asn33Ser Multiple submitters long QT syndrome ⚠
p.Asn635Ser Multiple submitters Cardiovascular phenotype ⚠
p.Asn714Lys Multiple submitters Cardiovascular phenotype ⚠
p.Asn802Ser Multiple submitters Cardiovascular phenotype ⚠
p.Asn819Lys Multiple submitters long QT syndrome 2
p.Asn861Ile Multiple submitters long QT syndrome ⚠
p.Asn985Ser Multiple submitters cardiac rhythm disease ⚠
p.Asp1003Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp1037Asn Multiple submitters cardiac rhythm disease ⚠
p.Asp1037Glu Multiple submitters cardiac rhythm disease ⚠
p.Asp1043Ala Multiple submitters Cardiovascular phenotype ⚠
p.Asp16Gly Multiple submitters Cardiovascular phenotype ⚠
p.Asp16His Multiple submitters long QT syndrome ⚠
p.Asp197Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp219Val Multiple submitters Cardiovascular phenotype ⚠
p.Asp259Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp321Tyr Multiple submitters long QT syndrome 2 ⚠
p.Asp323Asn Multiple submitters Cardiovascular phenotype
p.Asp323His Multiple submitters long QT syndrome ⚠
p.Asp383Asn Multiple submitters long QT syndrome ⚠
p.Asp466Gly Multiple submitters long QT syndrome 2 ⚠
p.Asp46Asn Multiple submitters cardiac rhythm disease ⚠
p.Asp46Glu Multiple submitters Cardiovascular phenotype
p.Asp46Gly Multiple submitters long QT syndrome ⚠
p.Asp591Asn Multiple submitters cardiac rhythm disease ⚠
p.Asp591His Multiple submitters long QT syndrome ⚠
p.Asp712Asn Multiple submitters long QT syndrome ⚠
p.Asp793Asn Multiple submitters cardiac rhythm disease ⚠
p.Asp850Asn Multiple submitters long QT syndrome ⚠
p.Asp850His Multiple submitters cardiac rhythm disease ⚠
p.Asp850Tyr Multiple submitters cardiac rhythm disease ⚠
p.Asp976Asn Multiple submitters long QT syndrome ⚠
p.Cys1015Arg Multiple submitters cardiac rhythm disease ⚠
p.Cys276Gly Multiple submitters long QT syndrome ⚠
p.Cys723Tyr Multiple submitters long QT syndrome ⚠
p.Cys977Trp Multiple submitters long QT syndrome ⚠
p.Gln11Leu Multiple submitters long QT syndrome ⚠
p.Gln25His Multiple submitters long QT syndrome ⚠
p.Gln376Glu Multiple submitters cardiac rhythm disease ⚠
p.Gln61Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gln676Glu Multiple submitters Cardiovascular phenotype ⚠
p.Gln81His Multiple submitters long QT syndrome ⚠
p.Gln84_Ala85insIleAlaGln Multiple submitters long QT syndrome
p.Gln884Arg Multiple submitters long QT syndrome ⚠
p.Glu1011Gly Multiple submitters cardiac rhythm disease ⚠
p.Glu1119Gln Multiple submitters cardiac rhythm disease ⚠
p.Glu1126Gln Multiple submitters long QT syndrome ⚠
p.Glu118Asp Multiple submitters Cardiovascular phenotype ⚠
p.Glu118Lys Multiple submitters long QT syndrome ⚠
p.Glu130Lys Multiple submitters cardiac rhythm disease ⚠
p.Glu208Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu289Gln Multiple submitters Cardiovascular phenotype ⚠
p.Glu289Lys Multiple submitters short QT syndrome type 1 ⚠
p.Glu357Asp Multiple submitters cardiac rhythm disease ⚠
p.Glu372Lys Multiple submitters long QT syndrome ⚠
p.Glu444Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu50Asp Multiple submitters Cardiovascular phenotype ⚠
p.Glu682Asp Multiple submitters Cardiovascular phenotype ⚠
p.Glu698Lys Multiple submitters long QT syndrome ⚠
p.Glu847Asp Multiple submitters cardiac rhythm disease ⚠
p.Glu876Lys Multiple submitters long QT syndrome ⚠
p.Glu878Asp Multiple submitters long QT syndrome ⚠
p.Glu900_Gly916dup Multiple submitters long QT syndrome
p.Glu900Lys Multiple submitters cardiac rhythm disease ⚠
p.Glu904Val Multiple submitters cardiac rhythm disease ⚠
p.Glu91Asp Multiple submitters cardiac rhythm disease ⚠
p.Glu929Val Multiple submitters long QT syndrome ⚠
p.Glu944Asp Multiple submitters long QT syndrome 2 ⚠
p.Glu966Lys Multiple submitters long QT syndrome ⚠
p.Glu971Lys Multiple submitters long QT syndrome ⚠
p.Glu978Gln Multiple submitters long QT syndrome ⚠
p.Gly1031_Arg1032dup Multiple submitters cardiac rhythm disease
p.Gly1031_Arg1035delinsVal Multiple submitters long QT syndrome
p.Gly1031Asp Multiple submitters cardiac rhythm disease ⚠
p.Gly1036_Asp1037dup Multiple submitters cardiac rhythm disease
p.Gly1036dup Multiple submitters long QT syndrome
p.Gly1123Arg Multiple submitters cardiac rhythm disease ⚠
p.Gly1123Glu Multiple submitters long QT syndrome ⚠
p.Gly1131Val Multiple submitters cardiac rhythm disease ⚠
p.Gly1154Arg Multiple submitters Cardiovascular phenotype
p.Gly1154Ser Multiple submitters cardiac rhythm disease ⚠
p.Gly139Ala Multiple submitters Cardiovascular phenotype ⚠
p.Gly139Arg Multiple submitters long QT syndrome ⚠
p.Gly149Asp Multiple submitters Cardiovascular phenotype ⚠
p.Gly189_Ala190insGlyAlaGly Multiple submitters Cardiovascular phenotype
p.Gly189_Ala190insGlyAlaGlyGlyAlaGly Multiple submitters short QT syndrome type 1
p.Gly189Val Multiple submitters long QT syndrome ⚠
p.Gly224Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gly236Val Multiple submitters Cardiovascular phenotype ⚠
p.Gly238Cys Multiple submitters long QT syndrome ⚠
p.Gly294Val Multiple submitters long QT syndrome 2 ⚠
p.Gly306Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gly314Asp Multiple submitters Cardiovascular phenotype ⚠
p.Gly314Ser Multiple submitters long QT syndrome ⚠
p.Gly47Arg Multiple submitters long QT syndrome ⚠
p.Gly522Arg Multiple submitters cardiac rhythm disease ⚠
p.Gly648Asp Multiple submitters long QT syndrome ⚠
p.Gly669Ala Multiple submitters long QT syndrome ⚠
p.Gly710Ser Multiple submitters long QT syndrome ⚠
p.Gly745Ala Multiple submitters cardiac rhythm disease ⚠
p.Gly766Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gly879Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gly924Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gly924Trp Multiple submitters long QT syndrome 2 ⚠
p.Gly924Val Multiple submitters long QT syndrome ⚠
p.Gly925Ala Multiple submitters Cardiovascular phenotype ⚠
p.Gly925Arg Multiple submitters long QT syndrome ⚠
p.Gly925Glu Multiple submitters long QT syndrome 2 ⚠
p.Gly928Arg Multiple submitters cardiac rhythm disease ⚠
p.Gly928Glu Multiple submitters long QT syndrome 2 ⚠
p.Gly934Cys Multiple submitters long QT syndrome ⚠
p.Gly945Asp Multiple submitters cardiac rhythm disease ⚠
p.Gly945Cys Multiple submitters cardiac rhythm disease ⚠
p.Gly965Arg Multiple submitters cardiac rhythm disease ⚠
p.Gly970Arg Multiple submitters cardiac rhythm disease ⚠
p.His1151Gln Multiple submitters long QT syndrome ⚠
p.His1153Tyr Multiple submitters cardiac rhythm disease ⚠
p.His221Gln Multiple submitters Cardiovascular phenotype ⚠
p.His309Gln Multiple submitters long QT syndrome ⚠
p.His309Tyr Multiple submitters cardiac rhythm disease ⚠
p.His396Tyr Multiple submitters cardiac rhythm disease ⚠
p.His578Pro Multiple submitters long QT syndrome 2 ⚠
p.His762Tyr Multiple submitters long QT syndrome ⚠
p.Ile19Thr Multiple submitters long QT syndrome 2 ⚠
p.Ile31del Multiple submitters long QT syndrome
p.Ile330Met Multiple submitters Cardiovascular phenotype
p.Ile414Val Multiple submitters long QT syndrome ⚠
p.Ile458Phe Multiple submitters Cardiovascular phenotype ⚠
p.Ile560Met Multiple submitters long QT syndrome ⚠
p.Ile560Val Multiple submitters long QT syndrome ⚠
p.Ile567Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile567Val Multiple submitters cardiac rhythm disease ⚠
p.Ile583Leu Multiple submitters Cardiovascular phenotype ⚠
p.Ile583Val Multiple submitters cardiac rhythm disease ⚠