AKAP9 — 3606 ClinVar variants

All ClinVar germline AKAP9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1871 flagged for review →

3 Likely pathogenic · 290 Conflicting · 107 Benign · 96 Benign/Likely benign · 1112 Likely benign · 1998 Uncertain significance

Full AKAP9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1871

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 2

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

AKAP9 p.Asp765Glu Likely pathogenic No assertion criteria
long QT syndrome
AKAP9 p.Ser1781Thr Likely pathogenic No assertion criteria
long QT syndrome

Predictors agree, ClinVar conflicts 235

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 235

AKAP9 p.Ala1086Thr Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Ala1194Thr Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Ala1472Thr Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Ala1662Val Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Ala1669Val Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Ala1743Val Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Ala2115Thr Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Ala2270Thr Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Ala2397Gly Conflicting Single submitter
long QT syndrome
AKAP9 p.Ala2405Thr Conflicting Single submitter
long QT syndrome
AKAP9 p.Ala2568Thr Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Ala2706Thr Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Ala2712Thr Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Ala2741Thr Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Ala2986Val Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Ala3077Thr Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Ala3324Thr Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Ala3496Thr Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Ala3738Val Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Ala3903Thr Conflicting Single submitter
long QT syndrome
AKAP9 p.Ala561Val Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Ala771Thr Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Ala775Val Conflicting Single submitter
long QT syndrome
AKAP9 p.Arg1117His Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Arg1614Trp Conflicting Single submitter
long QT syndrome 11
AKAP9 p.Arg1679His Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Arg1751Cys Conflicting Single submitter
long QT syndrome
AKAP9 p.Arg1902His Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Arg1908Gly Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Arg2016Cys Conflicting Single submitter
cardiomyopathy
AKAP9 p.Arg2099Gln Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Arg2173Gln Conflicting Single submitter
long QT syndrome
AKAP9 p.Arg2437His Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Arg2607Ser Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Arg2928Gln Conflicting Single submitter
long QT syndrome
AKAP9 p.Arg3038Cys Conflicting Single submitter
long QT syndrome
AKAP9 p.Arg3046Gln Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Arg3110Lys Conflicting Single submitter
long QT syndrome
AKAP9 p.Arg3233Cys Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Arg3233His Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Arg3237Gln Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Arg3237Trp Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Arg3255Gly Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Arg3294Gln Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Arg3310Trp Conflicting Single submitter
long QT syndrome
AKAP9 p.Arg3318Gly Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Arg3358His Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Arg3417Cys Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Arg3635Lys Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Arg3787Gln Conflicting Single submitter
long QT syndrome 11
AKAP9 p.Arg3832His Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Arg40Lys Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Arg434Trp Conflicting Single submitter
long QT syndrome
AKAP9 p.Arg454Lys Conflicting Single submitter
long QT syndrome
AKAP9 p.Arg466Gln Conflicting Single submitter
long QT syndrome
AKAP9 p.Arg466Trp Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Arg548Gly Conflicting Single submitter
long QT syndrome
AKAP9 p.Asn1058Asp Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Asn1100Ser Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Asn1261Ser Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Asn1313Ser Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Asn1320Ser Conflicting Single submitter
long QT syndrome
AKAP9 p.Asn1470Asp Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Asn1532Asp Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Asn1680Ser Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Asn1957Ser Conflicting Single submitter
long QT syndrome
AKAP9 p.Asn2496Lys Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Asn2801Ser Conflicting Single submitter
long QT syndrome
AKAP9 p.Asn3494Ser Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Asn977Ser Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Asp152Glu Conflicting Single submitter
long QT syndrome
AKAP9 p.Asp1706Gly Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Asp2269Val Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Asp2389Gly Conflicting Single submitter
long QT syndrome
AKAP9 p.Asp2595Tyr Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Asp2893His Conflicting Single submitter
long QT syndrome
AKAP9 p.Asp3011Gly Conflicting Single submitter
long QT syndrome
AKAP9 p.Asp3555Val Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Asp3871Asn Conflicting Single submitter
long QT syndrome
AKAP9 p.Cys1367Ser Conflicting Single submitter
long QT syndrome
AKAP9 p.Cys1544Ser Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Cys2010Tyr Conflicting Single submitter
long QT syndrome
AKAP9 p.Cys3508Tyr Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Cys3581Gly Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Cys870Tyr Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Gln1341Arg Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Gln1397Glu Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Gln1665Leu Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Gln2101Arg Conflicting Single submitter
long QT syndrome
AKAP9 p.Gln2101Pro Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Gln2591His Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Gln2730Arg Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Gln274Arg Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Gln2823Arg Conflicting Single submitter
long QT syndrome 11
AKAP9 p.Gln420Arg Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Gln503Arg Conflicting Single submitter
long QT syndrome
AKAP9 p.Gln743Lys Conflicting Single submitter
long QT syndrome
AKAP9 p.Gln97Glu Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Glu1265Lys Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Glu1377Asp Conflicting Single submitter
long QT syndrome 11
AKAP9 p.Glu1425Ala Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Glu147Asp Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Glu170Asp Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Glu170Val Conflicting Single submitter
long QT syndrome
AKAP9 p.Glu1820Asp Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Glu2013Lys Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Glu2248Gln Conflicting Single submitter
long QT syndrome
AKAP9 p.Glu2299Gly Conflicting Single submitter
long QT syndrome
AKAP9 p.Glu2438Asp Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Glu2487Gln Conflicting Single submitter
long QT syndrome
AKAP9 p.Glu2704Asp Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Glu2717Gln Conflicting Single submitter
long QT syndrome
AKAP9 p.Glu2717Gly Conflicting Single submitter
long QT syndrome
AKAP9 p.Glu3008Lys Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Glu3036Lys Conflicting Single submitter
long QT syndrome
AKAP9 p.Glu3149Gly Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Glu3407Ala Conflicting Single submitter
long QT syndrome
AKAP9 p.Glu3487Lys Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Glu3753Asp Conflicting Single submitter
long QT syndrome
AKAP9 p.Glu744Lys Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Glu788Lys Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Glu898Asp Conflicting Single submitter
long QT syndrome
AKAP9 p.Gly1418Asp Conflicting Single submitter
long QT syndrome 11
AKAP9 p.Gly1466Arg Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Gly3627Glu Conflicting Single submitter
long QT syndrome
AKAP9 p.His1165Asn Conflicting Single submitter
long QT syndrome
AKAP9 p.His1486Arg Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.His3598Arg Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.His562Arg Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.His794Arg Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Ile1428Val Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Ile1538Met Conflicting Single submitter
long QT syndrome
AKAP9 p.Ile1643Met Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Ile1835Met Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Ile1944Val Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Ile2324Val Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Ile2455Val Conflicting Single submitter
long QT syndrome 11
AKAP9 p.Ile2522Arg Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Ile2540Val Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Ile2772Val Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Ile2886Val Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Ile3126Thr Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Ile3126Val Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Ile324Val Conflicting Single submitter
long QT syndrome
AKAP9 p.Ile3277Arg Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Ile3277Thr Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Ile330Val Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Ile3439Val Conflicting Single submitter
long QT syndrome
AKAP9 p.Ile3548Thr Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Ile366Phe Conflicting Single submitter
Cardiovascular phenotype

Predictors lean, ClinVar uncertain 1468

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 1468

AKAP9 p.Ala1454Thr Uncertain significance Multiple submitters
long QT syndrome 11
AKAP9 p.Ala1611Val Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Ala1727Val Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Ala1743Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Ala1831Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Ala1852Gly Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Ala1852Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Ala1871Gly Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Ala1928Val Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Ala2115Ser Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Ala2159Val Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Ala2364Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Ala247Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Ala2779Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Ala2802Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Ala2836Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Ala3007Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Ala3286Val Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Ala3523Val Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Ala3671Val Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Ala3738Thr Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Ala3807Thr Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Ala3855Val Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Ala552Val Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Ala771Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Ala895Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Ala895Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Ala925Thr Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Arg1029Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Arg1110Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Arg1132Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Arg1246Gly Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Arg1591Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Arg1596Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Arg1679Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Arg1707Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Arg1751His Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Arg1824Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Arg1880Cys Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Arg1880His Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Arg1900Gln Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Arg1900Gly Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Arg1902Cys Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Arg1947His Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Arg2016His Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Arg2152Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Arg2243Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Arg2345Thr Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Arg2437Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Arg3038His Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Arg3046Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Arg3233Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Arg3294Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Arg3308Gln Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Arg3320Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Arg3336Gln Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Arg3377Gln Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Arg3384Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Arg3450Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Arg3454Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Arg3516Lys Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Arg3590Lys Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Arg3624Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Arg3764Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Arg3783Gln Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Arg3832Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Arg421Gln Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Arg528Lys Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Arg649Gln Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Arg950Gln Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Arg993Lys Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Asn1092Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Asn1100His Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Asn1229Asp Uncertain significance Multiple submitters
long QT syndrome 11
AKAP9 p.Asn132Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Asn132His Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Asn1728Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Asn2298Ser Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Asn2321Asp Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Asn2344Ser Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Asn2496Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Asn2496Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Asn2574Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Asn2635Lys Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Asn2989Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Asn3479Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Asn3757Ser Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Asn382Ser Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Asn480Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Asn56Asp Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Asn722Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Asn777Ser Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Asp1226Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Asp1239Tyr Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Asp1395Ala Uncertain significance Multiple submitters
long QT syndrome 11
AKAP9 p.Asp1496Tyr Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Asp1575Val Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Asp2196Ala Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Asp2512Val Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Asp2738His Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Asp313Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Asp3198Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Asp3343Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Asp356Val Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Asp3692Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Asp486His Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Asp486Val Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Asp643Val Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Asp765Asn Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Asp920Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Cys1895Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Cys2571Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Cys2877Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Cys62Tyr Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Cys836Arg Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Cys994Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Gln1341His Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Gln1495Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Gln1823Glu Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Gln1823Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Gln1885Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Gln2009Arg Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Gln2022Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Gln202Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Gln2033Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Gln2190Glu Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Gln2249Glu Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Gln2528Glu Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Gln2832Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Gln3032Glu Uncertain significance Multiple submitters
AKAP9-related disorder
AKAP9 p.Gln312Arg Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Gln3265Glu Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Gln3334Arg Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Gln3395Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Gln3424His Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Gln3444His Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Gln3531Glu Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Gln3687His Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Gln368Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Gln3894His Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
AKAP9 p.Gln527Arg Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Gln71Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Glu1180Lys Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Glu1236Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Glu1248Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Glu1332Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Glu1338Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Glu1364Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Glu137Lys Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Glu1424Lys Uncertain significance Multiple submitters
long QT syndrome

Predictors split 166

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 166

AKAP9 p.Ala12Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Ala1456Asp Uncertain significance Multiple submitters
long QT syndrome 11
AKAP9 p.Ala2012Gly Uncertain significance Multiple submitters
long QT syndrome 11
AKAP9 p.Ala609Asp Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Arg1596Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Arg3193Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Arg6Lys Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Asn595Asp Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Asn860Asp Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Asp204Asn Likely benign Multiple submitters
Cardiovascular phenotype
AKAP9 p.Asp3871Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Gln3418His Benign/Likely benign Multiple submitters
Cardiovascular phenotype
AKAP9 p.Glu1443Val Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Glu2127Gly Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Glu606Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Gly3401Glu Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Ile2087Val Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Leu1657Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Leu3042Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Leu512Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Leu585Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Lys2005Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Lys2067Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Lys3199Glu Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Lys3355Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Lys3606Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Lys37Glu Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Met398Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Met674Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Met717Thr Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Phe3547Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Phe852Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Phe857Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Ser1865Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Ser1918Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Ser2126Arg Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Thr1748Arg Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Thr627Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Trp3222Gly Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Trp3222Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Tyr861His Likely benign Multiple submitters
Cardiovascular phenotype
AKAP9 p.Tyr861Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Val1753Ala Uncertain significance Multiple submitters
long QT syndrome
AKAP9 p.Val401Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Val610Met Uncertain significance Multiple submitters
Cardiovascular phenotype
AKAP9 p.Ala1194Pro Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Ala15Val Uncertain significance Single submitter
long QT syndrome
AKAP9 p.Ala199Thr Uncertain significance Single submitter
long QT syndrome
AKAP9 p.Ala2193Asp Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Ala2553Pro Uncertain significance Single submitter
long QT syndrome
AKAP9 p.Ala3191Pro Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Ala3669Pro Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Arg1654Ser Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Arg1880Pro Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Arg21Gln Uncertain significance Single submitter
long QT syndrome
AKAP9 p.Arg21Gly Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Arg23Gly Uncertain significance Single submitter
long QT syndrome
AKAP9 p.Arg3023Gln Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Arg3038Pro Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Arg3476Ser Uncertain significance Single submitter
long QT syndrome
AKAP9 p.Arg3882Trp Uncertain significance Single submitter
long QT syndrome
AKAP9 p.Arg613Thr Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Asn856Ser Uncertain significance Single submitter
long QT syndrome
AKAP9 p.Asp1589Asn Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Asp2050Asn Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Asp937Gly Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Asp937Tyr Uncertain significance Single submitter
long QT syndrome
AKAP9 p.Gln1597Arg Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Gln2134His Uncertain significance Single submitter
long QT syndrome
AKAP9 p.Gln2214Arg Uncertain significance Single submitter
long QT syndrome
AKAP9 p.Gln302Pro Uncertain significance Single submitter
long QT syndrome
AKAP9 p.Gln3274Pro Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Gln3402Pro Uncertain significance Single submitter
long QT syndrome
AKAP9 p.Gln3437Pro Uncertain significance Single submitter
long QT syndrome
AKAP9 p.Gln432Pro Uncertain significance Single submitter
long QT syndrome
AKAP9 p.Gln682Pro Uncertain significance Single submitter
long QT syndrome
AKAP9 p.Gln743Pro Uncertain significance Single submitter
long QT syndrome
AKAP9 p.Gln7Pro Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Glu11Gly Uncertain significance Single submitter
long QT syndrome
AKAP9 p.Glu11Lys Uncertain significance Single submitter
long QT syndrome
AKAP9 p.Glu1600Asp Uncertain significance Single submitter
long QT syndrome
AKAP9 p.Glu1653Asp Conflicting Single submitter
long QT syndrome
AKAP9 p.Glu1997Asp Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Glu2213Asp Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Glu2213Gln Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Glu2218Lys Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Glu2983Asp Uncertain significance Single submitter
long QT syndrome
AKAP9 p.Glu3225Lys Uncertain significance Single submitter
long QT syndrome
AKAP9 p.Glu3367Ala Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Glu387Lys Uncertain significance Single submitter
long QT syndrome
AKAP9 p.Glu402Lys Conflicting Single submitter
long QT syndrome
AKAP9 p.Glu604Gly Uncertain significance Single submitter
long QT syndrome
AKAP9 p.Glu616Lys Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Gly13Ser Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Gly3401Arg Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.His1612Arg Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.His1752Arg Uncertain significance Single submitter
long QT syndrome
AKAP9 p.Ile1453Arg Uncertain significance Single submitter
long QT syndrome
AKAP9 p.Ile240Thr Uncertain significance Single submitter
long QT syndrome
AKAP9 p.Ile3068Thr Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Ile3094Thr Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Ile3599Thr Uncertain significance Single submitter
long QT syndrome
AKAP9 p.Ile445Thr Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Leu1633Phe Uncertain significance Single submitter
long QT syndrome
AKAP9 p.Leu1735Phe Uncertain significance Single submitter
long QT syndrome
AKAP9 p.Leu1868Phe Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Leu2128His Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Leu2128Phe Uncertain significance Single submitter
long QT syndrome
AKAP9 p.Leu2543Pro Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Leu2834Pro Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Leu284Ser Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Leu3302Phe Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Leu3374Trp Uncertain significance Single submitter
long QT syndrome
AKAP9 p.Leu3408His Uncertain significance Single submitter
AKAP9 p.Leu3408Phe Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Leu3408Pro Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Leu3740Phe Uncertain significance Single submitter
long QT syndrome
AKAP9 p.Leu983Ser Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Lys14Thr Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Lys1856Asn Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Lys2089Glu Uncertain significance Single submitter
long QT syndrome
AKAP9 p.Lys3659Glu Uncertain significance Single submitter
long QT syndrome
AKAP9 p.Lys386Asn Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Lys607Asn Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Lys855Thr Uncertain significance Single submitter
long QT syndrome
AKAP9 p.Lys9Gln Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Met1590Arg Uncertain significance Single submitter
long QT syndrome
AKAP9 p.Met1613Arg Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Met1843Arg Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Met1843Lys Uncertain significance Single submitter
long QT syndrome 11
AKAP9 p.Met1879Thr Conflicting Single submitter
Cardiovascular phenotype
AKAP9 p.Met2002Ile Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Met2065Ile Conflicting Single submitter
long QT syndrome
AKAP9 p.Met2231Thr Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Met2831Arg Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Met3405Ile Uncertain significance Single submitter
long QT syndrome
AKAP9 p.Met3440Arg Uncertain significance Single submitter
long QT syndrome
AKAP9 p.Met3440Thr Conflicting Single submitter
long QT syndrome
AKAP9 p.Met3743Ile Conflicting Single submitter
long QT syndrome
AKAP9 p.Met440Ile Uncertain significance Single submitter
long QT syndrome
AKAP9 p.Met491Thr Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Met717Ile Likely benign Single submitter
Cardiovascular phenotype
AKAP9 p.Met942Thr Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Phe1830Leu Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Phe1934Leu Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Phe196Leu Uncertain significance Single submitter
long QT syndrome
AKAP9 p.Phe2100Leu Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Phe2939Leu Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Phe294Leu Uncertain significance Single submitter
Cardiovascular phenotype
AKAP9 p.Phe3045Ser Uncertain significance Single submitter
Cardiovascular phenotype

All AKAP9 variants

Likely pathogenic 3

p.Gln191Ter Single submitter long QT syndrome 11
p.Asp765Glu No assertion criteria long QT syndrome ⚠
p.Ser1781Thr No assertion criteria long QT syndrome ⚠

Conflicting classifications of pathogenicity 290

c.10714-3C>T Single submitter Cardiovascular phenotype
c.11687-10TC[2] Single submitter Cardiovascular phenotype
c.307-5T>G Single submitter Cardiovascular phenotype
c.4149-4T>C Single submitter long QT syndrome
c.4917+3A>C Single submitter long QT syndrome
c.5369-3T>C Single submitter Cardiovascular phenotype
c.576+5G>T Single submitter long QT syndrome
c.6330+3A>G Single submitter long QT syndrome 11
c.6330+7A>G Single submitter long QT syndrome
c.6766-4C>T Single submitter Cardiovascular phenotype
c.6946-5A>G Single submitter Cardiovascular phenotype
c.8020-5T>C Single submitter Cardiovascular phenotype
p.Ala1086Thr Single submitter Cardiovascular phenotype ⚠
p.Ala1142= Single submitter long QT syndrome
p.Ala1194Thr Single submitter Cardiovascular phenotype ⚠
p.Ala1472Thr Single submitter Cardiovascular phenotype ⚠
p.Ala1662Val Single submitter Cardiovascular phenotype ⚠
p.Ala1669Val Single submitter Cardiovascular phenotype ⚠
p.Ala1743Val Single submitter Cardiovascular phenotype ⚠
p.Ala2115Thr Single submitter Cardiovascular phenotype ⚠
p.Ala2270Thr Single submitter Cardiovascular phenotype ⚠
p.Ala2397Gly Single submitter long QT syndrome ⚠
p.Ala2405Thr Single submitter long QT syndrome ⚠
p.Ala2568Thr Single submitter Cardiovascular phenotype ⚠
p.Ala2706Thr Single submitter Cardiovascular phenotype ⚠
p.Ala2712Thr Single submitter Cardiovascular phenotype ⚠
p.Ala2741Thr Single submitter Cardiovascular phenotype ⚠
p.Ala2986Val Single submitter Cardiovascular phenotype ⚠
p.Ala3077Thr Single submitter Cardiovascular phenotype ⚠
p.Ala3324Thr Single submitter Cardiovascular phenotype ⚠
p.Ala3496Thr Single submitter Cardiovascular phenotype ⚠
p.Ala3738Val Single submitter Cardiovascular phenotype ⚠
p.Ala3903Thr Single submitter long QT syndrome ⚠
p.Ala561Val Single submitter Cardiovascular phenotype ⚠
p.Ala620Asp Single submitter Cardiovascular phenotype
p.Ala771Thr Single submitter Cardiovascular phenotype ⚠
p.Ala775Val Single submitter long QT syndrome ⚠
p.Arg1117His Single submitter Cardiovascular phenotype ⚠
p.Arg1609Gln Single submitter Cardiovascular phenotype
p.Arg1614Trp Single submitter long QT syndrome 11 ⚠
p.Arg1679His Single submitter Cardiovascular phenotype ⚠
p.Arg1721= Single submitter Cardiovascular phenotype
p.Arg1751Cys Single submitter long QT syndrome ⚠
p.Arg1902His Single submitter Cardiovascular phenotype ⚠
p.Arg1908Gly Single submitter Cardiovascular phenotype ⚠
p.Arg2016Cys Single submitter cardiomyopathy ⚠
p.Arg2099Gln Single submitter Cardiovascular phenotype ⚠
p.Arg2173Gln Single submitter long QT syndrome ⚠
p.Arg2345_Glu2346delinsLys Single submitter Cardiovascular phenotype
p.Arg2437His Single submitter Cardiovascular phenotype ⚠
p.Arg2607Ser Single submitter Cardiovascular phenotype ⚠
p.Arg2928Gln Single submitter long QT syndrome ⚠
p.Arg3023Gln Single submitter Cardiovascular phenotype ⚠
p.Arg3038Cys Single submitter long QT syndrome ⚠
p.Arg3046Gln Single submitter Cardiovascular phenotype ⚠
p.Arg3110Lys Single submitter long QT syndrome ⚠
p.Arg3233Cys Single submitter Cardiovascular phenotype ⚠
p.Arg3233His Single submitter Cardiovascular phenotype ⚠
p.Arg3237Gln Single submitter Cardiovascular phenotype ⚠
p.Arg3237Trp Single submitter Cardiovascular phenotype ⚠
p.Arg3255Gly Single submitter Cardiovascular phenotype ⚠
p.Arg3294Gln Single submitter Cardiovascular phenotype ⚠
p.Arg3310Trp Single submitter long QT syndrome ⚠
p.Arg3318Gly Single submitter Cardiovascular phenotype ⚠
p.Arg3358His Single submitter Cardiovascular phenotype ⚠
p.Arg3417Cys Single submitter Cardiovascular phenotype ⚠
p.Arg3635Lys Single submitter Cardiovascular phenotype ⚠
p.Arg3766Gln Single submitter long QT syndrome
p.Arg3787Gln Single submitter long QT syndrome 11 ⚠
p.Arg3832His Single submitter Cardiovascular phenotype ⚠
p.Arg40Lys Single submitter Cardiovascular phenotype ⚠
p.Arg434Trp Single submitter long QT syndrome ⚠
p.Arg454Lys Single submitter long QT syndrome ⚠
p.Arg466Gln Single submitter long QT syndrome ⚠
p.Arg466Trp Single submitter Cardiovascular phenotype ⚠
p.Arg548Gly Single submitter long QT syndrome ⚠
p.Asn1058Asp Single submitter Cardiovascular phenotype ⚠
p.Asn1100Ser Single submitter Cardiovascular phenotype ⚠
p.Asn1261Ser Single submitter Cardiovascular phenotype ⚠
p.Asn1313Ser Single submitter Cardiovascular phenotype ⚠
p.Asn1320Ser Single submitter long QT syndrome ⚠
p.Asn1470Asp Single submitter Cardiovascular phenotype ⚠
p.Asn1532Asp Single submitter Cardiovascular phenotype ⚠
p.Asn1680Ser Single submitter Cardiovascular phenotype ⚠
p.Asn1957Ser Single submitter long QT syndrome ⚠
p.Asn2496Lys Single submitter Cardiovascular phenotype ⚠
p.Asn2801Ser Single submitter long QT syndrome ⚠
p.Asn3494Ser Single submitter Cardiovascular phenotype ⚠
p.Asn977Ser Single submitter Cardiovascular phenotype ⚠
p.Asp152Glu Single submitter long QT syndrome ⚠
p.Asp1589Asn Single submitter Cardiovascular phenotype ⚠
p.Asp1706Gly Single submitter Cardiovascular phenotype ⚠
p.Asp222Gly Single submitter long QT syndrome
p.Asp2269Val Single submitter Cardiovascular phenotype ⚠
p.Asp2389Gly Single submitter long QT syndrome ⚠
p.Asp2595Tyr Single submitter Cardiovascular phenotype ⚠
p.Asp2893His Single submitter long QT syndrome ⚠
p.Asp3011Gly Single submitter long QT syndrome ⚠
p.Asp3555Val Single submitter Cardiovascular phenotype ⚠
p.Asp3871Asn Single submitter long QT syndrome ⚠
p.Cys1367Ser Single submitter long QT syndrome ⚠
p.Cys1544Ser Single submitter Cardiovascular phenotype ⚠
p.Cys2010Tyr Single submitter long QT syndrome ⚠
p.Cys3508Tyr Single submitter Cardiovascular phenotype ⚠
p.Cys3581Gly Single submitter Cardiovascular phenotype ⚠
p.Cys870Tyr Single submitter Cardiovascular phenotype ⚠
p.Gln1341Arg Single submitter Cardiovascular phenotype ⚠
p.Gln1397Glu Single submitter Cardiovascular phenotype ⚠
p.Gln1665Leu Single submitter Cardiovascular phenotype ⚠
p.Gln2101_Glu2105del Single submitter cardiomyopathy
p.Gln2101Arg Single submitter long QT syndrome ⚠
p.Gln2101Pro Single submitter Cardiovascular phenotype ⚠
p.Gln2591His Single submitter Cardiovascular phenotype ⚠
p.Gln2730Arg Single submitter Cardiovascular phenotype ⚠
p.Gln274Arg Single submitter Cardiovascular phenotype ⚠
p.Gln2823Arg Single submitter long QT syndrome 11 ⚠
p.Gln2862Arg Single submitter long QT syndrome
p.Gln3520= Single submitter Cardiovascular phenotype
p.Gln3730Pro Single submitter Cardiovascular phenotype
p.Gln420Arg Single submitter Cardiovascular phenotype ⚠
p.Gln503Arg Single submitter long QT syndrome ⚠
p.Gln743Lys Single submitter long QT syndrome ⚠
p.Gln97Glu Single submitter Cardiovascular phenotype ⚠
p.Glu1265Lys Single submitter Cardiovascular phenotype ⚠
p.Glu1377_Thr1379del Single submitter Cardiovascular phenotype
p.Glu1377Asp Single submitter long QT syndrome 11 ⚠
p.Glu1425Ala Single submitter Cardiovascular phenotype ⚠
p.Glu147Asp Single submitter Cardiovascular phenotype ⚠
p.Glu1653Asp Single submitter long QT syndrome ⚠
p.Glu170Asp Single submitter Cardiovascular phenotype ⚠
p.Glu170Val Single submitter long QT syndrome ⚠
p.Glu1820Asp Single submitter Cardiovascular phenotype ⚠
p.Glu2013Lys Single submitter Cardiovascular phenotype ⚠
p.Glu2059Gly Single submitter Cardiovascular phenotype
p.Glu2248Gln Single submitter long QT syndrome ⚠
p.Glu2299Gly Single submitter long QT syndrome ⚠
p.Glu2438Asp Single submitter Cardiovascular phenotype ⚠
p.Glu2487Gln Single submitter long QT syndrome ⚠
p.Glu2704Asp Single submitter Cardiovascular phenotype ⚠
p.Glu2717Gln Single submitter long QT syndrome ⚠
p.Glu2717Gly Single submitter long QT syndrome ⚠
p.Glu2718del Single submitter Cardiovascular phenotype
p.Glu3008Lys Single submitter Cardiovascular phenotype ⚠
p.Glu3036Lys Single submitter long QT syndrome ⚠
p.Glu3149Gly Single submitter Cardiovascular phenotype ⚠
p.Glu3407Ala Single submitter long QT syndrome ⚠
p.Glu3487Lys Single submitter Cardiovascular phenotype ⚠
p.Glu3570= Single submitter Cardiovascular phenotype
p.Glu3753Asp Single submitter long QT syndrome ⚠
p.Glu402Lys Single submitter long QT syndrome ⚠
p.Glu634Lys Single submitter long QT syndrome
p.Glu744Lys Single submitter Cardiovascular phenotype ⚠
p.Glu788Lys Single submitter Cardiovascular phenotype ⚠
p.Glu898Asp Single submitter long QT syndrome ⚠
p.Gly1418Asp Single submitter long QT syndrome 11 ⚠
p.Gly1466Arg Single submitter Cardiovascular phenotype ⚠
p.Gly1832= Single submitter long QT syndrome 11
p.Gly3627Glu Single submitter long QT syndrome ⚠
p.Gly3744Ala Single submitter Cardiovascular phenotype
p.Gly3744Trp Single submitter Cardiovascular phenotype
p.His1165Asn Single submitter long QT syndrome ⚠
p.His1486Arg Single submitter Cardiovascular phenotype ⚠
p.His3598Arg Single submitter Cardiovascular phenotype ⚠
p.His562Arg Single submitter Cardiovascular phenotype ⚠
p.His794Arg Single submitter Cardiovascular phenotype ⚠
p.Ile1428Val Single submitter Cardiovascular phenotype ⚠
p.Ile1538Met Single submitter long QT syndrome ⚠
p.Ile1643Met Single submitter Cardiovascular phenotype ⚠
p.Ile1835Met Single submitter Cardiovascular phenotype ⚠
p.Ile1944Val Single submitter Cardiovascular phenotype ⚠
p.Ile2324Val Single submitter Cardiovascular phenotype ⚠
p.Ile2455Val Single submitter long QT syndrome 11 ⚠
p.Ile2522Arg Single submitter Cardiovascular phenotype ⚠
p.Ile2540Val Single submitter Cardiovascular phenotype ⚠
p.Ile2772Val Single submitter Cardiovascular phenotype ⚠
p.Ile2886Val Single submitter Cardiovascular phenotype ⚠
p.Ile3126Thr Single submitter Cardiovascular phenotype ⚠
p.Ile3126Val Single submitter Cardiovascular phenotype ⚠
p.Ile324Val Single submitter long QT syndrome ⚠
p.Ile3277Arg Single submitter Cardiovascular phenotype ⚠
p.Ile3277Thr Single submitter Cardiovascular phenotype ⚠
p.Ile330Val Single submitter Cardiovascular phenotype ⚠
p.Ile3439Val Single submitter long QT syndrome ⚠
p.Ile3548Thr Single submitter Cardiovascular phenotype ⚠
p.Ile366Phe Single submitter Cardiovascular phenotype ⚠
p.Ile3840Thr Single submitter Cardiovascular phenotype ⚠
p.Ile445Thr Single submitter Cardiovascular phenotype ⚠
p.Ile646Val Single submitter Cardiovascular phenotype ⚠
p.Ile661Leu Single submitter Cardiovascular phenotype ⚠
p.Ile826Met Single submitter dilated cardiomyopathy ⚠
p.Leu1075= Single submitter Cardiovascular phenotype
p.Leu1150Phe Single submitter long QT syndrome 11 ⚠
p.Leu1913Val Single submitter Cardiovascular phenotype ⚠
p.Leu2543Pro Single submitter Cardiovascular phenotype ⚠
p.Leu2592Gln Single submitter long QT syndrome ⚠
p.Leu2715Phe Single submitter Cardiovascular phenotype ⚠
p.Leu3288Val Single submitter Cardiovascular phenotype ⚠
p.Leu3431Phe Single submitter Cardiovascular phenotype ⚠
p.Leu3589= Single submitter Cardiovascular phenotype
p.Leu358Phe Single submitter Cardiovascular phenotype ⚠
p.Leu512Val Single submitter Cardiovascular phenotype ⚠
p.Leu902Val Single submitter Cardiovascular phenotype ⚠
p.Lys1040Glu Single submitter Cardiovascular phenotype ⚠
p.Lys1080Asn Single submitter Cardiovascular phenotype ⚠
p.Lys14Thr Single submitter Cardiovascular phenotype ⚠
p.Lys1542Arg Single submitter Cardiovascular phenotype ⚠
p.Lys1762Glu Single submitter Cardiovascular phenotype ⚠
p.Lys1894Glu Single submitter Cardiovascular phenotype ⚠
p.Lys2358Asn Single submitter Cardiovascular phenotype ⚠
p.Lys2539Arg Single submitter long QT syndrome ⚠
p.Lys2660Asn Single submitter Cardiovascular phenotype ⚠
p.Lys2762Asn Single submitter Cardiovascular phenotype ⚠
p.Lys3230Arg Single submitter Cardiovascular phenotype ⚠
p.Lys3382Thr Single submitter Cardiovascular phenotype ⚠
p.Lys386Asn Single submitter Cardiovascular phenotype ⚠
p.Lys513Arg Single submitter Cardiovascular phenotype ⚠
p.Lys873Arg Single submitter Cardiovascular phenotype ⚠
p.Met1288Ile Single submitter Cardiovascular phenotype ⚠
p.Met1311Lys Single submitter Cardiovascular phenotype ⚠
p.Met1451Val Single submitter Cardiovascular phenotype ⚠
p.Met1613Val Single submitter cardiac rhythm disease ⚠
p.Met1843Arg Single submitter Cardiovascular phenotype ⚠
p.Met1843Thr Single submitter Cardiovascular phenotype ⚠
p.Met1879Thr Single submitter Cardiovascular phenotype ⚠
p.Met2002Val Single submitter long QT syndrome ⚠
p.Met2049Thr Single submitter Cardiovascular phenotype ⚠
p.Met2065Ile Single submitter long QT syndrome ⚠
p.Met225Thr Single submitter long QT syndrome ⚠
p.Met2372Val Single submitter Cardiovascular phenotype ⚠
p.Met3440Thr Single submitter long QT syndrome ⚠
p.Met3743Ile Single submitter long QT syndrome ⚠
p.Met3905Thr Single submitter hypertrophic cardiomyopathy ⚠
p.Met790Val Single submitter long QT syndrome 11 ⚠
p.Phe3443Leu Single submitter long QT syndrome ⚠
p.Pro130Arg Single submitter Cardiovascular phenotype ⚠
p.Pro1535Leu Single submitter Cardiovascular phenotype ⚠
p.Pro154Leu Single submitter long QT syndrome ⚠
p.Pro154Thr Single submitter long QT syndrome ⚠
p.Pro2666Leu Single submitter Cardiovascular phenotype ⚠
p.Pro79Ser Single submitter Cardiovascular phenotype ⚠
p.Ser1055Tyr Single submitter Cardiovascular phenotype ⚠
p.Ser1348= Single submitter long QT syndrome
p.Ser1388= Single submitter long QT syndrome 11
p.Ser1388Leu Single submitter Cardiovascular phenotype ⚠
p.Ser1533Asn Single submitter Cardiovascular phenotype ⚠
p.Ser1570Leu Single submitter Cardiovascular phenotype
p.Ser1761Gly Single submitter long QT syndrome ⚠
p.Ser1848Cys Single submitter Cardiovascular phenotype ⚠
p.Ser2383Arg Single submitter Cardiovascular phenotype ⚠
p.Ser2485Tyr Single submitter Cardiovascular phenotype ⚠
p.Ser2509Asn Single submitter Cardiovascular phenotype ⚠
p.Ser2761= Single submitter long QT syndrome 11
p.Ser3039Gly Single submitter long QT syndrome ⚠
p.Ser3142Ile Single submitter long QT syndrome 11 ⚠
p.Ser3156= Single submitter long QT syndrome
p.Ser3373Cys Single submitter Cardiovascular phenotype ⚠
p.Ser3373Tyr Single submitter Cardiovascular phenotype ⚠
p.Ser577Ala Single submitter long QT syndrome ⚠
p.Ser982Tyr Single submitter Cardiovascular phenotype ⚠
p.Thr1285Ala Single submitter long QT syndrome ⚠
p.Thr1312Pro Single submitter long QT syndrome 11 ⚠
p.Thr131Ile Single submitter long QT syndrome ⚠
p.Thr155Asn Single submitter Cardiovascular phenotype ⚠
p.Thr1605Met Single submitter Cardiovascular phenotype ⚠
p.Thr1890Ser Single submitter Cardiovascular phenotype ⚠
p.Thr2302Met Single submitter Cardiovascular phenotype ⚠
p.Thr2782Ile Single submitter Cardiovascular phenotype ⚠
p.Thr2916Lys Single submitter Cardiovascular phenotype ⚠
p.Thr3148Ala Single submitter Cardiovascular phenotype ⚠
p.Thr3148Met Single submitter Cardiovascular phenotype ⚠
p.Thr3315Ala Single submitter long QT syndrome ⚠
p.Thr3473fs Single submitter Cardiovascular phenotype
p.Thr3899Ile Single submitter long QT syndrome ⚠
p.Thr426Ala Single submitter Cardiovascular phenotype ⚠
p.Trp3622Ter Single submitter long QT syndrome
p.Tyr185Cys Single submitter long QT syndrome ⚠
p.Tyr1927His Single submitter Cardiovascular phenotype
p.Tyr2965Cys Single submitter Cardiovascular phenotype ⚠
p.Tyr3850Cys Single submitter Cardiovascular phenotype ⚠
p.Val1024Gly Single submitter Cardiovascular phenotype ⚠
p.Val1444Ala Single submitter Cardiovascular phenotype ⚠
p.Val183Ile Single submitter long QT syndrome ⚠
p.Val2008Ile Single submitter Cardiovascular phenotype ⚠
p.Val2189Ile Single submitter long QT syndrome ⚠
p.Val2226Ile Single submitter Cardiovascular phenotype ⚠
p.Val2629Ala Single submitter Cardiovascular phenotype ⚠
p.Val2736Ile Single submitter Cardiovascular phenotype ⚠
p.Val3160Met Single submitter Cardiovascular phenotype ⚠
p.Val3769Ile Single submitter Cardiovascular phenotype ⚠
p.Val3788Leu Single submitter Cardiovascular phenotype ⚠

Benign 107

c.10608-38G>A Multiple submitters long QT syndrome 11
c.10714-78C>T Multiple submitters
c.11330+7A>G Multiple submitters long QT syndrome 11
c.11416+30T>A Multiple submitters
c.11546+138A>G Multiple submitters
c.11546+185C>T Multiple submitters
c.11546+186G>A Multiple submitters
c.11546+321T>C Multiple submitters
c.11546+58T>A Multiple submitters long QT syndrome 11
c.3533-148T>C Multiple submitters
c.3612+51T>C Multiple submitters
c.3613-178A>G Multiple submitters
c.4149-59C>G Multiple submitters long QT syndrome 11
c.4339-41T>G Multiple submitters long QT syndrome 11
c.49-21G>A Multiple submitters
c.49-3200A>C Multiple submitters
c.5059-129C>A Multiple submitters
c.5162+318G>A Multiple submitters
c.5162+60T>C Multiple submitters
c.5163-20G>A Multiple submitters long QT syndrome
c.5602-117A>G Multiple submitters
c.6211-24A>G Multiple submitters
c.6331-8T>C Multiple submitters long QT syndrome 11
c.6765+89C>T Multiple submitters
c.8020-45A>G Multiple submitters long QT syndrome 11
c.8646+49A>T Multiple submitters long QT syndrome 11
c.8646+59del Multiple submitters long QT syndrome 11
c.8647-74C>G Multiple submitters
c.9358+31A>G Multiple submitters
c.-285C>T Multiple submitters
p.Glu1965= Multiple submitters long QT syndrome
p.Glu863= Multiple submitters Cardiovascular phenotype
p.Lys1335_Leu1336insGln Multiple submitters Cardiovascular phenotype
p.Lys3216= Multiple submitters Cardiovascular phenotype
p.Met463Ile Multiple submitters Cardiovascular phenotype
p.Val1024= Multiple submitters long QT syndrome
c.11097+221A>T Single submitter
c.11097+295C>T Single submitter
c.11098-145TAC[12] Single submitter
c.11098-145TAC[13] Single submitter
c.11098-145TAC[17] Single submitter
c.11416+222A>G Single submitter
c.11416+23del Single submitter long QT syndrome
c.11417-143T>G Single submitter
c.11417-301C>G Single submitter
c.352-155A>G Single submitter
c.3533-161G>T Single submitter
c.3613-291G>C Single submitter
c.3751+212G>T Single submitter
c.3752-133C>T Single submitter
c.3838-169T>A Single submitter
c.406-200dup Single submitter
c.406-201_406-200dup Single submitter
c.406-207_406-206insC Single submitter
c.406-224C>A Single submitter
c.4245+13del Single submitter long QT syndrome
c.4245+216T>C Single submitter
c.4338+193G>C Single submitter
c.4692+279G>A Single submitter
c.4693-11dup Single submitter
c.4693-180G>A Single submitter
c.48+154C>A Single submitter
c.49-3200A>G Single submitter
c.4917+121dup Single submitter
c.5163-130_5163-128dup Single submitter
c.5368+280T>C Single submitter
c.5368+7G>C Single submitter
c.5369-244dup Single submitter
c.5369-6T>G Single submitter
c.5602-272T>C Single submitter
c.576+307G>A Single submitter
c.5764+163TA[14] Single submitter
c.5764+163TA[15] Single submitter
c.5764+163TA[17] Single submitter
c.5764+163TA[19] Single submitter
c.5764+163TA[20] Single submitter
c.5977+146G>T Single submitter
c.6507+196TTGTT[10] Single submitter
c.6507+196TTGTT[7] Single submitter
c.6507+196TTGTT[8] Single submitter
c.6507+198_6507+215del Single submitter
c.6507+259G>A Single submitter
c.6508-239C>T Single submitter
c.6508-312A>C Single submitter
c.6612+235A>G Single submitter
c.6612+319AT[2] Single submitter
c.6765+168A>T Single submitter
c.6765+243G>A Single submitter
c.6765+303C>G Single submitter
c.6765+61TTA[8] Single submitter
c.6765+88dup Single submitter
c.6946-174T>C Single submitter
c.9025-20C>T Single submitter
c.931-161G>C Single submitter
c.931-178T>G Single submitter
c.931-8dup Single submitter long QT syndrome
c.9358+167G>A Single submitter
c.9729+266G>A Single submitter
c.9730-309G>C Single submitter
c.-129G>A Single submitter
c.-18G>T Single submitter
c.-230G>T Single submitter
p.Gln3119= Single submitter
p.Leu1336fs Single submitter
p.Leu537Phe Single submitter Cardiovascular phenotype
p.Lys1335_Leu1336insThr Single submitter
p.Lys1335fs Single submitter

Benign/Likely benign 96

c.10608-15G>C Multiple submitters long QT syndrome 11
c.11098-13T>G Multiple submitters long QT syndrome 11
c.11331-11A>T Multiple submitters long QT syndrome
c.3318+13C>A Multiple submitters long QT syndrome 11
c.3952+14A>G Multiple submitters long QT syndrome
c.4148+18G>C Multiple submitters long QT syndrome 11
c.4246-6A>T Multiple submitters long QT syndrome
c.4693-11del Multiple submitters cardiac rhythm disease
c.4918-10dup Multiple submitters long QT syndrome 11
c.5978-4A>G Multiple submitters Cardiovascular phenotype
c.6330+19T>C Multiple submitters long QT syndrome
c.6508-20A>T Multiple submitters long QT syndrome 11
c.6945+8C>T Multiple submitters long QT syndrome
c.8020-12G>A Multiple submitters long QT syndrome
c.9214-6T>C Multiple submitters long QT syndrome
c.9358+10A>G Multiple submitters long QT syndrome
c.9358+11T>C Multiple submitters long QT syndrome
c.9729+17C>T Multiple submitters long QT syndrome 11
c.-124G>C Multiple submitters long QT syndrome 11
c.-214CGG[6] Multiple submitters
p.Ala1224= Multiple submitters Cardiovascular phenotype
p.Ala1909Thr Multiple submitters long QT syndrome
p.Ala458Pro Multiple submitters Cardiovascular phenotype
p.Ala525= Multiple submitters Cardiovascular phenotype
p.Arg1276Gln Multiple submitters Cardiovascular phenotype
p.Arg1609= Multiple submitters long QT syndrome
p.Arg1609Lys Multiple submitters long QT syndrome
p.Arg1614Gln Multiple submitters long QT syndrome
p.Arg3310Gln Multiple submitters Cardiovascular phenotype
p.Arg3476= Multiple submitters long QT syndrome
p.Arg3712Gln Multiple submitters Cardiovascular phenotype
p.Arg3742Pro Multiple submitters Cardiovascular phenotype
p.Arg3758His Multiple submitters amyloidosis
p.Arg3766= Multiple submitters long QT syndrome 11
p.Arg434Gln Multiple submitters Cardiovascular phenotype
p.Asn2045Ser Multiple submitters Cardiovascular phenotype
p.Asn2792Ser Multiple submitters Cardiovascular phenotype
p.Asp1507His Multiple submitters Cardiovascular phenotype
p.Gln1397Arg Multiple submitters Cardiovascular phenotype
p.Gln2232= Multiple submitters Cardiovascular phenotype
p.Gln2306= Multiple submitters Cardiovascular phenotype
p.Gln2307= Multiple submitters Cardiovascular phenotype
p.Gln239= Multiple submitters Cardiovascular phenotype
p.Gln2425= Multiple submitters Cardiovascular phenotype
p.Gln3031Arg Multiple submitters cardiomyopathy
p.Gln3418His Multiple submitters Cardiovascular phenotype ⚠
p.Gln3444Arg Multiple submitters Cardiovascular phenotype
p.Glu1168= Multiple submitters Cardiovascular phenotype
p.Glu2403Gly Multiple submitters Cardiovascular phenotype
p.Glu2407= Multiple submitters Cardiovascular phenotype
p.Glu2829Lys Multiple submitters long QT syndrome
p.Gly1022= Multiple submitters Cardiovascular phenotype
p.Gly1926= Multiple submitters long QT syndrome
p.Gly3629= Multiple submitters Cardiovascular phenotype
p.Gly3860= Multiple submitters long QT syndrome
p.His1870= Multiple submitters long QT syndrome
p.His47Tyr Multiple submitters Cardiovascular phenotype
p.Ile1448Val Multiple submitters Cardiovascular phenotype
p.Ile1749Thr Multiple submitters unspecified heart condition
p.Ile2546Met Multiple submitters Cardiovascular phenotype
p.Ile3620Val Multiple submitters Cardiovascular phenotype
p.Ile809Val Multiple submitters Cardiovascular phenotype
p.Ile826Thr Multiple submitters Cardiovascular phenotype
p.Leu164= Multiple submitters long QT syndrome
p.Leu2561= Multiple submitters Cardiovascular phenotype
p.Leu271= Multiple submitters Cardiovascular phenotype
p.Leu2889= Multiple submitters long QT syndrome
p.Leu3042= Multiple submitters long QT syndrome 11
p.Leu3049= Multiple submitters Cardiovascular phenotype
p.Leu512= Multiple submitters Cardiovascular phenotype
p.Leu928= Multiple submitters Cardiovascular phenotype
p.Lys2484Arg Multiple submitters Cardiovascular phenotype
p.Lys351= Multiple submitters long QT syndrome
p.Lys3615= Multiple submitters long QT syndrome
p.Met1400Thr Multiple submitters Cardiovascular phenotype
p.Met1810Val Multiple submitters Cardiovascular phenotype
p.Met3614Val Multiple submitters Cardiovascular phenotype
p.Phe2083= Multiple submitters Cardiovascular phenotype
p.Phe414= Multiple submitters Cardiovascular phenotype
p.Pro2979Ser Multiple submitters long QT syndrome
p.Ser1065Gly Multiple submitters Cardiovascular phenotype
p.Ser1082= Multiple submitters Cardiovascular phenotype
p.Ser1208= Multiple submitters long QT syndrome
p.Ser146= Multiple submitters long QT syndrome
p.Ser1761= Multiple submitters Cardiovascular phenotype
p.Ser2186Pro Multiple submitters Cardiovascular phenotype
p.Ser27= Multiple submitters long QT syndrome
p.Ser27Leu Multiple submitters Cardiovascular phenotype
p.Ser3767Leu Multiple submitters Cardiovascular phenotype
p.Ser579= Multiple submitters long QT syndrome
p.Thr1025= Multiple submitters Cardiovascular phenotype
p.Thr3399= Multiple submitters Cardiovascular phenotype
p.Val1480= Multiple submitters Cardiovascular phenotype
p.Val1790Gly Multiple submitters Cardiovascular phenotype
p.Val316= Multiple submitters Cardiovascular phenotype
p.Val3769= Multiple submitters long QT syndrome

Likely benign 1112

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

c.10399-4C>T Multiple submitters long QT syndrome
c.10607+109T>C Multiple submitters
c.11098-106T>C Multiple submitters
c.11098-17C>T Multiple submitters long QT syndrome
c.11098-49G>A Multiple submitters
c.11098-5T>C Multiple submitters long QT syndrome
c.11687-4A>G Multiple submitters long QT syndrome
c.306+63T>G Multiple submitters
c.3533-17A>G Multiple submitters long QT syndrome
c.3612+116G>A Multiple submitters
c.3838-4A>T Multiple submitters long QT syndrome
c.406-4T>A Multiple submitters Cardiovascular phenotype
c.4693-10A>T Multiple submitters long QT syndrome
c.4693-38T>C Multiple submitters
c.4917+14del Multiple submitters long QT syndrome
c.576+34C>T Multiple submitters
c.6507+27A>C Multiple submitters
c.6946-8_6946-5del Multiple submitters long QT syndrome
c.8019+43A>G Multiple submitters
c.8161-7G>A Multiple submitters long QT syndrome 11
c.8646+78T>C Multiple submitters
c.930+177G>A Multiple submitters
c.9358+163A>G Multiple submitters
c.9358+91T>A Multiple submitters
p.Ala1115= Multiple submitters Cardiovascular phenotype
p.Ala1477= Multiple submitters Cardiovascular phenotype
p.Ala1767= Multiple submitters long QT syndrome
p.Ala18= Multiple submitters long QT syndrome
p.Ala1871= Multiple submitters Cardiovascular phenotype
p.Ala2159= Multiple submitters Cardiovascular phenotype
p.Ala2374= Multiple submitters long QT syndrome
p.Ala2693= Multiple submitters Cardiovascular phenotype
p.Ala2860= Multiple submitters long QT syndrome
p.Ala3043Thr Multiple submitters long QT syndrome
p.Ala3051= Multiple submitters Cardiovascular phenotype
p.Ala3223= Multiple submitters Cardiovascular phenotype
p.Ala3286= Multiple submitters long QT syndrome
p.Ala775= Multiple submitters Cardiovascular phenotype
p.Ala853= Multiple submitters Cardiovascular phenotype
p.Arg126= Multiple submitters long QT syndrome
p.Arg1276= Multiple submitters Cardiovascular phenotype
p.Arg1596= Multiple submitters long QT syndrome
p.Arg218= Multiple submitters Cardiovascular phenotype
p.Arg2928= Multiple submitters Cardiovascular phenotype
p.Arg3237= Multiple submitters long QT syndrome
p.Arg3435= Multiple submitters Cardiovascular phenotype
p.Arg3624= Multiple submitters Cardiovascular phenotype
p.Arg466= Multiple submitters Cardiovascular phenotype
p.Arg541= Multiple submitters Cardiovascular phenotype
p.Arg548= Multiple submitters Cardiovascular phenotype
p.Arg802= Multiple submitters long QT syndrome
p.Asn1296Asp Multiple submitters Cardiovascular phenotype
p.Asn1360= Multiple submitters Cardiovascular phenotype
p.Asn2055= Multiple submitters Cardiovascular phenotype
p.Asn2223= Multiple submitters Cardiovascular phenotype
p.Asn2452= Multiple submitters Cardiovascular phenotype
p.Asn3125= Multiple submitters Cardiovascular phenotype
p.Asn318= Multiple submitters Cardiovascular phenotype
p.Asn3271= Multiple submitters Cardiovascular phenotype
p.Asn672= Multiple submitters Cardiovascular phenotype
p.Asn777= Multiple submitters Cardiovascular phenotype
p.Asn840= Multiple submitters Cardiovascular phenotype
p.Asp113= Multiple submitters Cardiovascular phenotype
p.Asp1792= Multiple submitters Cardiovascular phenotype
p.Asp1802Asn Multiple submitters Cardiovascular phenotype
p.Asp204Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp2389= Multiple submitters Cardiovascular phenotype
p.Asp2524= Multiple submitters long QT syndrome
p.Asp2600= Multiple submitters Cardiovascular phenotype
p.Asp3683= Multiple submitters long QT syndrome
p.Asp686= Multiple submitters long QT syndrome
p.Asp918= Multiple submitters Cardiovascular phenotype
p.Cys1144Arg Multiple submitters Cardiovascular phenotype
p.Cys3732= Multiple submitters long QT syndrome
p.Cys3864= Multiple submitters Cardiovascular phenotype
p.Cys870= Multiple submitters Cardiovascular phenotype
p.Gln1243= Multiple submitters long QT syndrome
p.Gln1339= Multiple submitters Cardiovascular phenotype
p.Gln1352= Multiple submitters Cardiovascular phenotype
p.Gln1586= Multiple submitters Cardiovascular phenotype
p.Gln1627= Multiple submitters Cardiovascular phenotype
p.Gln1636= Multiple submitters Cardiovascular phenotype
p.Gln1887= Multiple submitters Cardiovascular phenotype
p.Gln1967= Multiple submitters Cardiovascular phenotype
p.Gln1970= Multiple submitters Cardiovascular phenotype
p.Gln2009= Multiple submitters Cardiovascular phenotype
p.Gln215= Multiple submitters Cardiovascular phenotype
p.Gln2227= Multiple submitters long QT syndrome
p.Gln2305= Multiple submitters long QT syndrome
p.Gln241= Multiple submitters long QT syndrome
p.Gln2526= Multiple submitters Cardiovascular phenotype
p.Gln2735= Multiple submitters long QT syndrome
p.Gln2796= Multiple submitters Cardiovascular phenotype
p.Gln2896= Multiple submitters long QT syndrome
p.Gln3424= Multiple submitters Cardiovascular phenotype
p.Gln3894= Multiple submitters long QT syndrome
p.Gln405= Multiple submitters Cardiovascular phenotype
p.Gln447= Multiple submitters long QT syndrome
p.Gln529= Multiple submitters Cardiovascular phenotype
p.Gln545= Multiple submitters long QT syndrome
p.Gln59= Multiple submitters Cardiovascular phenotype
p.Gln61= Multiple submitters Cardiovascular phenotype
p.Gln767= Multiple submitters Cardiovascular phenotype
p.Glu1064= Multiple submitters Cardiovascular phenotype
p.Glu1149= Multiple submitters long QT syndrome
p.Glu1221= Multiple submitters long QT syndrome
p.Glu1338= Multiple submitters Cardiovascular phenotype
p.Glu1460= Multiple submitters Cardiovascular phenotype
p.Glu147= Multiple submitters long QT syndrome
p.Glu1584= Multiple submitters long QT syndrome
p.Glu1588= Multiple submitters long QT syndrome
p.Glu1593= Multiple submitters long QT syndrome
p.Glu1600= Multiple submitters Cardiovascular phenotype
p.Glu161= Multiple submitters Cardiovascular phenotype
p.Glu1624= Multiple submitters long QT syndrome
p.Glu1786= Multiple submitters long QT syndrome
p.Glu1855= Multiple submitters long QT syndrome
p.Glu2043= Multiple submitters long QT syndrome
p.Glu2047= Multiple submitters Cardiovascular phenotype
p.Glu2059= Multiple submitters Cardiovascular phenotype
p.Glu2079= Multiple submitters Cardiovascular phenotype
p.Glu223= Multiple submitters Cardiovascular phenotype
p.Glu2267= Multiple submitters long QT syndrome
p.Glu2332= Multiple submitters Cardiovascular phenotype
p.Glu2350= Multiple submitters long QT syndrome
p.Glu2505= Multiple submitters long QT syndrome
p.Glu2596= Multiple submitters long QT syndrome
p.Glu2684= Multiple submitters long QT syndrome
p.Glu2866= Multiple submitters Cardiovascular phenotype
p.Glu2926= Multiple submitters Cardiovascular phenotype
p.Glu303= Multiple submitters Cardiovascular phenotype
p.Glu3036= Multiple submitters long QT syndrome
p.Glu3176= Multiple submitters Cardiovascular phenotype
p.Glu3400= Multiple submitters Cardiovascular phenotype
p.Glu3407= Multiple submitters Cardiovascular phenotype
p.Glu3679= Multiple submitters Cardiovascular phenotype
p.Glu423= Multiple submitters long QT syndrome
p.Glu4Gln Multiple submitters Cardiovascular phenotype
p.Glu515= Multiple submitters long QT syndrome
p.Glu553= Multiple submitters Cardiovascular phenotype
p.Glu586= Multiple submitters Cardiovascular phenotype
p.Glu776= Multiple submitters Cardiovascular phenotype
p.Glu783= Multiple submitters Cardiovascular phenotype
p.Glu96Asp Multiple submitters Cardiovascular phenotype
p.Gly1033= Multiple submitters Cardiovascular phenotype
p.Gly13= Multiple submitters long QT syndrome
p.Gly1467= Multiple submitters Cardiovascular phenotype
p.Gly1922= Multiple submitters long QT syndrome
p.Gly3024= Multiple submitters Cardiovascular phenotype
p.Gly3745= Multiple submitters Cardiovascular phenotype
p.Gly3745Val Multiple submitters Cardiovascular phenotype
p.Gly3819= Multiple submitters Cardiovascular phenotype
p.Gly931= Multiple submitters long QT syndrome
p.His1366= Multiple submitters long QT syndrome
p.His3323= Multiple submitters Cardiovascular phenotype
p.His3828Gln Multiple submitters long QT syndrome
p.His53Arg Multiple submitters Cardiovascular phenotype
p.His633= Multiple submitters long QT syndrome
p.Ile324Thr Multiple submitters long QT syndrome
p.Ile3558Val Multiple submitters Cardiovascular phenotype
p.Ile551Val Multiple submitters long QT syndrome
p.Leu1210= Multiple submitters long QT syndrome
p.Leu1354= Multiple submitters Cardiovascular phenotype
p.Leu1582= Multiple submitters Cardiovascular phenotype
p.Leu1657= Multiple submitters long QT syndrome
p.Leu1668= Multiple submitters Cardiovascular phenotype
p.Leu1757= Multiple submitters Cardiovascular phenotype
p.Leu1821= Multiple submitters long QT syndrome
p.Leu1844= Multiple submitters long QT syndrome
p.Leu1976= Multiple submitters Cardiovascular phenotype
p.Leu1995= Multiple submitters long QT syndrome
p.Leu2006= Multiple submitters Cardiovascular phenotype
p.Leu2058= Multiple submitters Cardiovascular phenotype
p.Leu2130= Multiple submitters Cardiovascular phenotype
p.Leu229= Multiple submitters Cardiovascular phenotype
p.Leu2377= Multiple submitters long QT syndrome
p.Leu2543= Multiple submitters long QT syndrome
p.Leu2798= Multiple submitters Cardiovascular phenotype
p.Leu2834= Multiple submitters Cardiovascular phenotype
p.Leu2871= Multiple submitters Cardiovascular phenotype
p.Leu3061= Multiple submitters Cardiovascular phenotype
p.Leu3173= Multiple submitters Cardiovascular phenotype
p.Leu3179= Multiple submitters long QT syndrome
p.Leu3189= Multiple submitters Cardiovascular phenotype
p.Leu3245= Multiple submitters long QT syndrome
p.Leu3352= Multiple submitters Cardiovascular phenotype
p.Leu3460= Multiple submitters long QT syndrome
p.Leu348= Multiple submitters long QT syndrome
p.Leu3638= Multiple submitters Cardiovascular phenotype
p.Leu3660= Multiple submitters Cardiovascular phenotype
p.Leu3752= Multiple submitters Cardiovascular phenotype
p.Leu378= Multiple submitters long QT syndrome
p.Leu622= Multiple submitters Cardiovascular phenotype
p.Leu630= Multiple submitters Cardiovascular phenotype
p.Leu695= Multiple submitters Cardiovascular phenotype
p.Leu803= Multiple submitters long QT syndrome
p.Leu825= Multiple submitters long QT syndrome
p.Leu87= Multiple submitters long QT syndrome
p.Leu941= Multiple submitters Cardiovascular phenotype
p.Leu992= Multiple submitters long QT syndrome
p.Lys1856= Multiple submitters Cardiovascular phenotype
p.Lys2342= Multiple submitters long QT syndrome
p.Lys2358= Multiple submitters Cardiovascular phenotype
p.Lys2660= Multiple submitters long QT syndrome
p.Lys2830= Multiple submitters long QT syndrome
p.Lys291= Multiple submitters long QT syndrome
p.Lys3187= Multiple submitters Cardiovascular phenotype
p.Lys3445= Multiple submitters Cardiovascular phenotype
p.Lys3719= Multiple submitters long QT syndrome
p.Lys410= Multiple submitters Cardiovascular phenotype
p.Lys607= Multiple submitters Cardiovascular phenotype
p.Lys785= Multiple submitters long QT syndrome
p.Lys8= Multiple submitters Cardiovascular phenotype
p.Lys875= Multiple submitters long QT syndrome
p.Lys882= Multiple submitters Cardiovascular phenotype
p.Phe1420Cys Multiple submitters Cardiovascular phenotype
p.Phe3780= Multiple submitters Cardiovascular phenotype
p.Pro1381= Multiple submitters Cardiovascular phenotype
p.Pro1989= Multiple submitters Cardiovascular phenotype
p.Pro2964= Multiple submitters long QT syndrome
p.Ser1036= Multiple submitters Cardiovascular phenotype
p.Ser1309= Multiple submitters Cardiovascular phenotype
p.Ser1376Thr Multiple submitters Cardiovascular phenotype
p.Ser1465= Multiple submitters Cardiovascular phenotype
p.Ser2240= Multiple submitters Cardiovascular phenotype
p.Ser2918= Multiple submitters long QT syndrome
p.Ser2992Leu Multiple submitters Cardiovascular phenotype
p.Ser3092= Multiple submitters Cardiovascular phenotype
p.Ser3289= Multiple submitters Cardiovascular phenotype
p.Ser3767= Multiple submitters Cardiovascular phenotype
p.Ser3772= Multiple submitters Cardiovascular phenotype
p.Ser383= Multiple submitters long QT syndrome
p.Ser3842= Multiple submitters Cardiovascular phenotype
p.Ser581= Multiple submitters Cardiovascular phenotype
p.Ser617= Multiple submitters long QT syndrome
p.Ser891= Multiple submitters Cardiovascular phenotype
p.Thr1215= Multiple submitters long QT syndrome
p.Thr1312= Multiple submitters long QT syndrome
p.Thr1558= Multiple submitters Cardiovascular phenotype
p.Thr1605= Multiple submitters long QT syndrome
p.Thr1683= Multiple submitters long QT syndrome
p.Thr1741= Multiple submitters Cardiovascular phenotype
p.Thr2302= Multiple submitters long QT syndrome
p.Thr232= Multiple submitters Cardiovascular phenotype
p.Thr2404= Multiple submitters Cardiovascular phenotype
p.Thr2427= Multiple submitters Cardiovascular phenotype
p.Thr2785= Multiple submitters long QT syndrome
p.Thr2870= Multiple submitters Cardiovascular phenotype
p.Thr295Ala Multiple submitters Cardiovascular phenotype
p.Thr3047= Multiple submitters long QT syndrome
p.Thr3148= Multiple submitters long QT syndrome
p.Thr3393= Multiple submitters Cardiovascular phenotype
p.Thr3469= Multiple submitters long QT syndrome
p.Thr3469Met Multiple submitters Cardiovascular phenotype
p.Thr3490= Multiple submitters long QT syndrome
p.Thr3506= Multiple submitters Cardiovascular phenotype
p.Thr3750= Multiple submitters long QT syndrome
p.Thr3789= Multiple submitters Cardiovascular phenotype
p.Thr3830= Multiple submitters long QT syndrome
p.Thr42= Multiple submitters long QT syndrome
p.Thr426= Multiple submitters Cardiovascular phenotype
p.Thr482= Multiple submitters long QT syndrome
p.Thr718= Multiple submitters Cardiovascular phenotype
p.Tyr308= Multiple submitters Cardiovascular phenotype
p.Tyr3369= Multiple submitters Cardiovascular phenotype
p.Tyr3495= Multiple submitters long QT syndrome
p.Tyr3870= Multiple submitters Cardiovascular phenotype
p.Tyr66= Multiple submitters Cardiovascular phenotype
p.Tyr861His Multiple submitters Cardiovascular phenotype ⚠
p.Tyr868= Multiple submitters Cardiovascular phenotype
p.Val1739= Multiple submitters Cardiovascular phenotype
p.Val1826= Multiple submitters Cardiovascular phenotype
p.Val2468= Multiple submitters long QT syndrome
p.Val2671= Multiple submitters Cardiovascular phenotype
p.Val2799= Multiple submitters Cardiovascular phenotype
p.Val307= Multiple submitters Cardiovascular phenotype
p.Val367Met Multiple submitters Cardiovascular phenotype
p.Val3788= Multiple submitters Cardiovascular phenotype
p.Val3792= Multiple submitters long QT syndrome
p.Val910Leu Multiple submitters Cardiovascular phenotype
p.Val924= Multiple submitters Cardiovascular phenotype
c.10398+12G>T Single submitter long QT syndrome
c.10607+10_10607+11del Single submitter long QT syndrome
c.10607+13T>C Single submitter long QT syndrome
c.10607+18G>C Single submitter long QT syndrome
c.10607+18G>T Single submitter long QT syndrome
c.10607+20T>A Single submitter long QT syndrome
c.10713+10T>G Single submitter long QT syndrome
c.10713+15_10713+16del Single submitter long QT syndrome
c.10713+18T>C Single submitter long QT syndrome
c.10713+20del Single submitter long QT syndrome
c.10714-19C>A Single submitter long QT syndrome
c.10714-19C>T Single submitter long QT syndrome
c.10896+20C>T Single submitter long QT syndrome
c.10897-10G>C Single submitter long QT syndrome
c.10897-10G>T Single submitter long QT syndrome
c.10897-12T>C Single submitter long QT syndrome
c.11097+10A>G Single submitter long QT syndrome
c.11097+12C>T Single submitter long QT syndrome
c.11097+17A>G Single submitter long QT syndrome

Uncertain significance 1998

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

c.10713+4A>G Multiple submitters long QT syndrome 11
c.11686+4C>T Multiple submitters long QT syndrome
c.11687-2A>G Multiple submitters Cardiovascular phenotype
c.3838-4A>G Multiple submitters long QT syndrome
c.3952+2T>G Multiple submitters long QT syndrome 11
c.3953-3T>C Multiple submitters Cardiovascular phenotype
c.405+3A>G Multiple submitters long QT syndrome
c.48+5G>A Multiple submitters long QT syndrome
c.49-3T>C Multiple submitters long QT syndrome
c.5058+2T>C Multiple submitters Cardiovascular phenotype
c.5162+3A>G Multiple submitters Cardiovascular phenotype
c.5162+4T>A Multiple submitters Cardiovascular phenotype
c.5162+5A>G Multiple submitters Cardiovascular phenotype
c.5368+4C>T Multiple submitters long QT syndrome 11
c.5601+4A>C Multiple submitters Cardiovascular phenotype
c.576+5G>A Multiple submitters Cardiovascular phenotype
c.5978-1_5978del Multiple submitters long QT syndrome
c.6508-1G>A Multiple submitters Cardiovascular phenotype
c.6946-3T>C Multiple submitters Cardiovascular phenotype
c.8019+5G>C Multiple submitters Cardiovascular phenotype
c.8833-1G>A Multiple submitters Cardiovascular phenotype
c.8833-3C>T Multiple submitters Cardiovascular phenotype
c.9025-1G>C Multiple submitters long QT syndrome
c.9213+3A>G Multiple submitters Cardiovascular phenotype
c.9729+4C>T Multiple submitters long QT syndrome
p.604EK[1] Multiple submitters long QT syndrome
p.Ala12Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala1454Thr Multiple submitters long QT syndrome 11 ⚠
p.Ala1456Asp Multiple submitters long QT syndrome 11 ⚠
p.Ala1611Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala1727Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala1743Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala1831Asp Multiple submitters Cardiovascular phenotype ⚠
p.Ala1852Gly Multiple submitters long QT syndrome ⚠
p.Ala1852Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala1871Gly Multiple submitters long QT syndrome ⚠
p.Ala1928Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala2012Gly Multiple submitters long QT syndrome 11 ⚠
p.Ala2115Ser Multiple submitters long QT syndrome ⚠
p.Ala2159Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala2364Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala247Gly Multiple submitters Cardiovascular phenotype ⚠
p.Ala2779Ser Multiple submitters Cardiovascular phenotype ⚠
p.Ala2802Ser Multiple submitters Cardiovascular phenotype ⚠
p.Ala2836Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala2837Gly Multiple submitters Cardiovascular phenotype
p.Ala3007Gly Multiple submitters Cardiovascular phenotype ⚠
p.Ala3286Val Multiple submitters long QT syndrome ⚠
p.Ala3523Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala3671Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala3738Thr Multiple submitters long QT syndrome ⚠
p.Ala3807Thr Multiple submitters long QT syndrome ⚠
p.Ala3855Val Multiple submitters long QT syndrome ⚠
p.Ala552Val Multiple submitters long QT syndrome ⚠
p.Ala609Asp Multiple submitters long QT syndrome ⚠
p.Ala771Glu Multiple submitters Cardiovascular phenotype ⚠
p.Ala895Glu Multiple submitters Cardiovascular phenotype ⚠
p.Ala895Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala925Thr Multiple submitters long QT syndrome ⚠
p.Arg1029Gly Multiple submitters Cardiovascular phenotype ⚠
p.Arg1110Thr Multiple submitters Cardiovascular phenotype ⚠
p.Arg1117Cys Multiple submitters Cardiovascular phenotype
p.Arg1132Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg1246Gly Multiple submitters long QT syndrome ⚠
p.Arg1562fs Multiple submitters Cardiovascular phenotype
p.Arg1591Lys Multiple submitters Cardiovascular phenotype ⚠
p.Arg1596Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg1596Leu Multiple submitters Cardiovascular phenotype ⚠
p.Arg1620Ter Multiple submitters long QT syndrome 11
p.Arg1679Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg1707Gly Multiple submitters Cardiovascular phenotype ⚠
p.Arg1751His Multiple submitters long QT syndrome ⚠
p.Arg1824Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg182Ser Multiple submitters Cardiovascular phenotype
p.Arg1880Cys Multiple submitters long QT syndrome ⚠
p.Arg1880His Multiple submitters long QT syndrome ⚠
p.Arg1900Gln Multiple submitters long QT syndrome ⚠
p.Arg1900Gly Multiple submitters long QT syndrome ⚠
p.Arg1900Ter Multiple submitters long QT syndrome
p.Arg1902Cys Multiple submitters long QT syndrome ⚠
p.Arg1947His Multiple submitters long QT syndrome ⚠
p.Arg1978Ile Multiple submitters Cardiovascular phenotype
p.Arg2016His Multiple submitters Cardiovascular phenotype ⚠
p.Arg2152Lys Multiple submitters Cardiovascular phenotype ⚠
p.Arg219fs Multiple submitters Cardiovascular phenotype
p.Arg21Ter Multiple submitters Cardiovascular phenotype
p.Arg2243Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg2345Thr Multiple submitters long QT syndrome ⚠
p.Arg2437Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg2664del Multiple submitters long QT syndrome
p.Arg2928Ter Multiple submitters Cardiovascular phenotype
p.Arg3038His Multiple submitters long QT syndrome ⚠
p.Arg3046Trp Multiple submitters Cardiovascular phenotype ⚠
p.Arg3088del Multiple submitters Cardiovascular phenotype
p.Arg3193Gly Multiple submitters Cardiovascular phenotype ⚠
p.Arg3233Leu Multiple submitters Cardiovascular phenotype ⚠
p.Arg3294Gly Multiple submitters Cardiovascular phenotype ⚠
p.Arg3308Gln Multiple submitters long QT syndrome ⚠
p.Arg3320Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg3336Gln Multiple submitters long QT syndrome ⚠
p.Arg3377Gln Multiple submitters long QT syndrome ⚠
p.Arg3384Lys Multiple submitters Cardiovascular phenotype ⚠
p.Arg3450Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg3454Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg3454Ter Multiple submitters Cardiovascular phenotype
p.Arg3458del Multiple submitters Cardiovascular phenotype
p.Arg3516Lys Multiple submitters long QT syndrome ⚠
p.Arg3590Lys Multiple submitters long QT syndrome ⚠
p.Arg3624Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg3712Ter Multiple submitters Cardiovascular phenotype
p.Arg3758Cys Multiple submitters Cardiovascular phenotype
p.Arg3764Lys Multiple submitters Cardiovascular phenotype ⚠
p.Arg3766Trp Multiple submitters long QT syndrome
p.Arg3770Thr Multiple submitters long QT syndrome
p.Arg3783Gln Multiple submitters long QT syndrome ⚠
p.Arg3783Ter Multiple submitters long QT syndrome
p.Arg3784Gln Multiple submitters long QT syndrome 11
p.Arg3784Trp Multiple submitters Cardiovascular phenotype
p.Arg3832Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg421Gln Multiple submitters long QT syndrome ⚠
p.Arg528Lys Multiple submitters long QT syndrome ⚠
p.Arg624fs Multiple submitters Cardiovascular phenotype
p.Arg649Gln Multiple submitters long QT syndrome ⚠
p.Arg6Lys Multiple submitters long QT syndrome ⚠
p.Arg950Gln Multiple submitters long QT syndrome ⚠
p.Arg993Lys Multiple submitters long QT syndrome ⚠
p.Asn1092Thr Multiple submitters Cardiovascular phenotype ⚠
p.Asn1100His Multiple submitters Cardiovascular phenotype ⚠
p.Asn1229Asp Multiple submitters long QT syndrome 11 ⚠
p.Asn132Asp Multiple submitters Cardiovascular phenotype ⚠
p.Asn132His Multiple submitters Cardiovascular phenotype ⚠
p.Asn1728Ser Multiple submitters Cardiovascular phenotype ⚠
p.Asn2298Ser Multiple submitters long QT syndrome ⚠
p.Asn2321Asp Multiple submitters long QT syndrome ⚠
p.Asn2344Ser Multiple submitters long QT syndrome ⚠
p.Asn2496Asp Multiple submitters Cardiovascular phenotype ⚠
p.Asn2496Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Asn2574Ser Multiple submitters Cardiovascular phenotype ⚠
p.Asn2635Lys Multiple submitters long QT syndrome ⚠
p.Asn2989Asp Multiple submitters Cardiovascular phenotype ⚠
p.Asn3479Asp Multiple submitters Cardiovascular phenotype ⚠
p.Asn3592His Multiple submitters Cardiovascular phenotype
p.Asn3757Ser Multiple submitters long QT syndrome ⚠
p.Asn382Ser Multiple submitters long QT syndrome ⚠
p.Asn480Asp Multiple submitters Cardiovascular phenotype ⚠
p.Asn56Asp Multiple submitters long QT syndrome ⚠
p.Asn595Asp Multiple submitters long QT syndrome ⚠
p.Asn722Ser Multiple submitters Cardiovascular phenotype ⚠
p.Asn777Ser Multiple submitters long QT syndrome ⚠
p.Asn860Asp Multiple submitters long QT syndrome ⚠
p.Asp1226Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp1239Tyr Multiple submitters long QT syndrome ⚠
p.Asp1395Ala Multiple submitters long QT syndrome 11 ⚠
p.Asp1496Tyr Multiple submitters long QT syndrome ⚠
p.Asp1575Val Multiple submitters Cardiovascular phenotype ⚠
p.Asp2196Ala Multiple submitters long QT syndrome ⚠
p.Asp2512Val Multiple submitters Cardiovascular phenotype ⚠
p.Asp2738His Multiple submitters long QT syndrome ⚠
p.Asp313Gly Multiple submitters Cardiovascular phenotype ⚠
p.Asp3198Gly Multiple submitters Cardiovascular phenotype ⚠
p.Asp3343Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp356Val Multiple submitters Cardiovascular phenotype ⚠
p.Asp3692Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp3734Val Multiple submitters Cardiovascular phenotype
p.Asp3871Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Asp3878Gly Multiple submitters long QT syndrome
p.Asp486His Multiple submitters Cardiovascular phenotype ⚠
p.Asp486Val Multiple submitters Cardiovascular phenotype ⚠
p.Asp643Val Multiple submitters Cardiovascular phenotype ⚠
p.Asp765Asn Multiple submitters long QT syndrome ⚠
p.Asp920Gly Multiple submitters Cardiovascular phenotype ⚠
p.Cys1895Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Cys2571Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Cys2877Trp Multiple submitters Cardiovascular phenotype ⚠
p.Cys3732Tyr Multiple submitters Cardiovascular phenotype
p.Cys62Tyr Multiple submitters long QT syndrome ⚠
p.Cys836Arg Multiple submitters long QT syndrome ⚠
p.Cys994Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Gln1341His Multiple submitters Cardiovascular phenotype ⚠
p.Gln1495Leu Multiple submitters Cardiovascular phenotype ⚠
p.Gln1692Ter Multiple submitters long QT syndrome
p.Gln1823Glu Multiple submitters long QT syndrome ⚠
p.Gln1823Leu Multiple submitters Cardiovascular phenotype ⚠
p.Gln1885Glu Multiple submitters Cardiovascular phenotype ⚠
p.Gln2009Arg Multiple submitters long QT syndrome ⚠
p.Gln2022Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gln202Glu Multiple submitters Cardiovascular phenotype ⚠
p.Gln2033Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gln2190Glu Multiple submitters long QT syndrome ⚠
p.Gln2249Glu Multiple submitters long QT syndrome ⚠
p.Gln2306Ter Multiple submitters long QT syndrome 11
p.Gln2528Glu Multiple submitters long QT syndrome ⚠
p.Gln2528Ter Multiple submitters Cardiovascular phenotype
p.Gln2832Glu Multiple submitters Cardiovascular phenotype ⚠
p.Gln3032Glu Multiple submitters AKAP9-related disorder ⚠
p.Gln312Arg Multiple submitters long QT syndrome ⚠
p.Gln3265Glu Multiple submitters long QT syndrome ⚠
p.Gln3334Arg Multiple submitters long QT syndrome ⚠
p.Gln3395Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gln3424His Multiple submitters Cardiovascular phenotype ⚠
p.Gln3444His Multiple submitters Cardiovascular phenotype ⚠
p.Gln3531Glu Multiple submitters long QT syndrome ⚠
p.Gln3687His Multiple submitters Cardiovascular phenotype ⚠
p.Gln368Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gln3730Arg Multiple submitters long QT syndrome
p.Gln3894His Multiple submitters hypertrophic cardiomyopathy ⚠
p.Gln527Arg Multiple submitters long QT syndrome ⚠
p.Gln71Glu Multiple submitters Cardiovascular phenotype ⚠
p.Glu1180Lys Multiple submitters long QT syndrome ⚠
p.Glu1236Asp Multiple submitters Cardiovascular phenotype ⚠
p.Glu1248Asp Multiple submitters Cardiovascular phenotype ⚠
p.Glu1332Gln Multiple submitters Cardiovascular phenotype ⚠
p.Glu1338Asp Multiple submitters Cardiovascular phenotype ⚠
p.Glu1364Gln Multiple submitters Cardiovascular phenotype ⚠
p.Glu137Lys Multiple submitters long QT syndrome ⚠
p.Glu138del Multiple submitters Cardiovascular phenotype
p.Glu1424Lys Multiple submitters long QT syndrome ⚠
p.Glu1443Val Multiple submitters Cardiovascular phenotype ⚠
p.Glu1504Gln Multiple submitters Cardiovascular phenotype ⚠
p.Glu1513del Multiple submitters long QT syndrome 11
p.Glu1628Lys Multiple submitters long QT syndrome ⚠
p.Glu1672Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu1694Lys Multiple submitters long QT syndrome ⚠
p.Glu173Asp Multiple submitters long QT syndrome ⚠
p.Glu1786Gly Multiple submitters Cardiovascular phenotype ⚠
p.Glu1786Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu1817Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu1911Val Multiple submitters Cardiovascular phenotype ⚠
p.Glu2127Gly Multiple submitters long QT syndrome ⚠
p.Glu2147Gln Multiple submitters long QT syndrome ⚠
p.Glu2184Gly Multiple submitters Cardiovascular phenotype ⚠
p.Glu2299Gln Multiple submitters Cardiovascular phenotype ⚠
p.Glu2350Gln Multiple submitters Cardiovascular phenotype ⚠
p.Glu2362Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu2645Gln Multiple submitters Cardiovascular phenotype ⚠
p.Glu2692Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu2718Lys Multiple submitters long QT syndrome ⚠
p.Glu279fs Multiple submitters Cardiovascular phenotype
p.Glu2811Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu2833Asp Multiple submitters long QT syndrome ⚠
p.Glu2888Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu292del Multiple submitters Cardiovascular phenotype
p.Glu3006Ala Multiple submitters Cardiovascular phenotype ⚠
p.Glu3008Gln Multiple submitters Cardiovascular phenotype ⚠
p.Glu3250Asp Multiple submitters Cardiovascular phenotype ⚠
p.Glu3272Lys Multiple submitters long QT syndrome ⚠
p.Glu3290Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu3342Lys Multiple submitters long QT syndrome ⚠
p.Glu3354Gly Multiple submitters long QT syndrome ⚠
p.Glu341Val Multiple submitters Cardiovascular phenotype ⚠
p.Glu342del Multiple submitters Cardiovascular phenotype
p.Glu3545Gln Multiple submitters Cardiovascular phenotype ⚠
p.Glu415Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu423Val Multiple submitters Cardiovascular phenotype ⚠
p.Glu436Gln Multiple submitters long QT syndrome ⚠
p.Glu542Gly Multiple submitters long QT syndrome ⚠
p.Glu569Gly Multiple submitters Cardiovascular phenotype ⚠
p.Glu592Ala Multiple submitters Cardiovascular phenotype
p.Glu606Asp Multiple submitters Cardiovascular phenotype ⚠
p.Glu623fs Multiple submitters long QT syndrome
p.Glu747Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu753fs Multiple submitters Cardiovascular phenotype
p.Glu788Ala Multiple submitters Cardiovascular phenotype ⚠
p.Glu827Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu879Gly Multiple submitters Cardiovascular phenotype
p.Glu932Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu946Gln Multiple submitters Cardiovascular phenotype ⚠
p.Glu988Ter Multiple submitters Cardiovascular phenotype
p.Gly1178Asp Multiple submitters Cardiovascular phenotype ⚠
p.Gly1211Cys Multiple submitters Cardiovascular phenotype ⚠
p.Gly1282Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gly140Asp Multiple submitters Cardiovascular phenotype ⚠
p.Gly1522Glu Multiple submitters Cardiovascular phenotype ⚠
p.Gly1693del Multiple submitters Cardiovascular phenotype
p.Gly1829Asp Multiple submitters Cardiovascular phenotype ⚠
p.Gly1926Ser Multiple submitters Cardiovascular phenotype ⚠
p.Gly2869Val Multiple submitters Cardiovascular phenotype ⚠
p.Gly2906Arg Multiple submitters long QT syndrome ⚠
p.Gly3401Glu Multiple submitters long QT syndrome ⚠
p.Gly3569Ala Multiple submitters long QT syndrome ⚠
p.Gly3569Val Multiple submitters long QT syndrome ⚠
p.Gly3728Ala Multiple submitters long QT syndrome
p.Gly3744Arg Multiple submitters Cardiovascular phenotype
p.Gly3744Glu Multiple submitters Cardiovascular phenotype
p.Gly3745Glu Multiple submitters long QT syndrome
p.Gly3800Ser Multiple submitters Cardiovascular phenotype ⚠
p.Gly517Arg Multiple submitters long QT syndrome ⚠
p.His1127Gln Multiple submitters Cardiovascular phenotype ⚠
p.His1127Leu Multiple submitters Cardiovascular phenotype ⚠
p.His1127Tyr Multiple submitters Cardiovascular phenotype ⚠
p.His1165Gln Multiple submitters long QT syndrome ⚠
p.His1165Tyr Multiple submitters Cardiovascular phenotype ⚠
p.His1185Asn Multiple submitters long QT syndrome ⚠
p.His1366Tyr Multiple submitters long QT syndrome ⚠
p.His1478Arg Multiple submitters long QT syndrome ⚠
p.His1536Pro Multiple submitters Cardiovascular phenotype ⚠
p.His169Arg Multiple submitters Cardiovascular phenotype ⚠
p.His1784Arg Multiple submitters long QT syndrome ⚠
p.His282Arg Multiple submitters Cardiovascular phenotype ⚠
p.His282Pro Multiple submitters Cardiovascular phenotype ⚠