SLC12A5 — 991 ClinVar variants

All ClinVar germline SLC12A5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 331 flagged for review →

31 Pathogenic · 1 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 20 Conflicting · 35 Benign · 13 Benign/Likely benign · 507 Likely benign · 370 Uncertain significance

Full SLC12A5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 331

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

Predictors agree, ClinVar conflicts 8

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

SLC12A5 p.Ala947Gly Conflicting Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Arg296His Conflicting Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Arg724Gln Conflicting Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Arg777His Conflicting Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Ile1060Val Conflicting Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Met813Ile Conflicting Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Pro818Ala Conflicting Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Pro987Leu Conflicting Single submitter
developmental and epileptic encephalopathy, 34

Predictors lean, ClinVar uncertain 264

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 264

SLC12A5 p.Ala306Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Ala440Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Ala94Asp Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Ala979Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Arg1048Trp Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Arg1049Cys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Arg119Trp Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Arg231His Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Arg316Gln Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Arg679His Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Arg846Gln Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Arg912His Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Arg926Gln Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Arg96His Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Asn328Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Asn954Asp Uncertain significance Multiple submitters
epilepsy, idiopathic generalized, susceptibility to, 14
SLC12A5 p.Asp33Asn Uncertain significance Multiple submitters
epilepsy, idiopathic generalized, susceptibility to, 14
SLC12A5 p.Asp897Asn Uncertain significance Multiple submitters
epilepsy, idiopathic generalized, susceptibility to, 14
SLC12A5 p.Asp976Asn Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Gln1044Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Gln673Glu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Gln767Arg Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Glu819Lys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Glu889Lys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Glu958Lys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Glu965Gln Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Gly1028Asp Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Gly177Arg Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Gly234Ser Uncertain significance Multiple submitters
SLC12A5 p.Gly382Asp Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Gly995Ala Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.His975Gln Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Ile792Asn Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Leu320Phe Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Leu358Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Leu677Met Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Leu750Met Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Leu766Met Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Lys250Asn Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Lys737Arg Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Met230Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Met97Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Phe715Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Phe791Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Pro1001Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Pro106Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Pro520Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Pro95Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Ser483Pro Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Ser978Asn Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Thr143Met Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Thr336Ala Uncertain significance Multiple submitters
SLC12A5 p.Thr580Met Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Thr787Met Uncertain significance Multiple submitters
epilepsy, idiopathic generalized, susceptibility to, 14
SLC12A5 p.Thr959Met Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Tyr593Phe Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Tyr880Cys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Val258Ile Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Val313Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Val367Met Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Val450Ile Uncertain significance Multiple submitters
epilepsy, idiopathic generalized, susceptibility to, 14
SLC12A5 p.Val461Ile Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Val475Met Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Val955Ile Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Ala1067Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Ala205Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Ala219Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Ala224Thr Uncertain significance Single submitter
SLC12A5 p.Ala242Thr Uncertain significance Single submitter
SLC12A5 p.Ala303Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Ala506Asp Uncertain significance Single submitter
SLC12A5 p.Ala652Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Ala722Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Ala81Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Ala886Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Ala947Asp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Ala960Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Arg1048Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Arg1081His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Arg1081Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Arg325His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Arg371Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Arg420His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Arg463Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Arg463Trp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Arg508Cys Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 14
SLC12A5 p.Arg508His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Arg590Cys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Arg635His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Arg646Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Arg654Cys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Arg654His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Arg654Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Arg659Cys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Arg780His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Arg796Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Arg846Trp Uncertain significance Single submitter
SLC12A5 p.Arg852Trp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Arg857Cys Uncertain significance Single submitter
SLC12A5 p.Arg857His Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 14
SLC12A5 p.Arg952Cys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Arg96Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Asn1043Ser Uncertain significance Single submitter
SLC12A5 p.Asn1073Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Asn228Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Asn283Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Asn84Lys Uncertain significance Single submitter
SLC12A5 p.Asn954Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Asp1011Asn Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Asp1011Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Asp300Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Asp381Asn Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Asp386Asn Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Asp681Asn Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Asp784Tyr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Asp962Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Cys140Arg Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Cys543Tyr Uncertain significance Single submitter
SLC12A5 p.Cys568Arg Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Cys613Gly Uncertain significance Single submitter
SLC12A5 p.Gln1044Arg Uncertain significance Single submitter
SLC12A5 p.Gln109Arg Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Glu1016Gly Uncertain significance Single submitter
SLC12A5 p.Glu1027Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Glu1089Asp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Glu201Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Glu39Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Glu895Asp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Glu904Asp Uncertain significance Single submitter
SLC12A5 p.Glu936Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Glu964Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Glu965Lys Uncertain significance Single submitter
SLC12A5 p.Gly102Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Gly157Asp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Gly187Cys Uncertain significance Single submitter
SLC12A5 p.Gly18Asp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Gly198Asp Uncertain significance Single submitter
SLC12A5 p.Gly298Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Gly309Glu Uncertain significance Single submitter
SLC12A5 p.Gly319Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Gly345Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Gly378Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Gly37Arg Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Gly382Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Gly42Asp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Gly42Cys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Gly434Asp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Gly835Ala Uncertain significance Single submitter
SLC12A5 p.Gly86Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Gly87Arg Uncertain significance Single submitter

Predictors split 59

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

SLC12A5 p.Arg1049His Uncertain significance Multiple submitters
SLC12A5-related disorder
SLC12A5 p.Arg731Cys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Arg751His Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Arg780Cys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Arg96Cys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Ile436Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Lys702Arg Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 34
SLC12A5 p.Ala1067Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Ala329Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Ala455Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Arg1065Trp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Arg119Gln Uncertain significance Single submitter
SLC12A5 p.Arg371Trp Uncertain significance Single submitter
SLC12A5 p.Arg592Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Arg679Cys Uncertain significance Single submitter
SLC12A5 p.Arg820His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Arg928Gln Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 14
SLC12A5 p.Arg952His Conflicting Single submitter
epilepsy, idiopathic generalized, susceptibility to, 14
SLC12A5 p.Arg96Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Asn586Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Asp1031His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Asp1084Asn Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Asp280Asn Uncertain significance Single submitter
SLC12A5 p.Gln918His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Glu342Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Glu468Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Glu546Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Glu936Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Gly192Ala Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Gly753Ala Uncertain significance Single submitter
SLC12A5 p.Ile270Val Likely benign Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Ile29Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Ile489Phe Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Ile792Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Leu698Met Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Lys1030Glu Uncertain significance Single submitter
SLC12A5 p.Lys923Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Lys944Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Met1035Ile Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Met1074Ile Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Met57Ile Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Met837Ile Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Phe1033Cys Uncertain significance Single submitter
SLC12A5 p.Phe112Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Phe48Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Pro1037Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Pro390Ala Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Pro56Leu Uncertain significance Single submitter
SLC12A5 p.Pro664Thr Uncertain significance Single submitter
SLC12A5 p.Pro689Ser Uncertain significance Single submitter
SLC12A5 p.Ser604Ile Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Thr188Asn Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Thr314Ile Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Thr478Ala Uncertain significance Single submitter
SLC12A5 p.Tyr399Cys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Tyr903Phe Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Val1054Met Uncertain significance Single submitter
SLC12A5 p.Val313Met Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34
SLC12A5 p.Val445Ile Uncertain significance Single submitter
developmental and epileptic encephalopathy, 34

All SLC12A5 variants

Pathogenic 31

p.Lys89fs Multiple submitters developmental and epileptic encephalopathy, 34
p.Trp670Ter Multiple submitters developmental and epileptic encephalopathy, 34
p.Ala1053_Val1054insTer Single submitter developmental and epileptic encephalopathy, 34
p.Ala15fs Single submitter developmental and epileptic encephalopathy, 34
p.Ala498fs Single submitter developmental and epileptic encephalopathy, 34
p.Arg646Ter Single submitter developmental and epileptic encephalopathy, 34
p.Arg751fs Single submitter developmental and epileptic encephalopathy, 34
p.Asn229fs Single submitter developmental and epileptic encephalopathy, 34
p.Asn328fs Single submitter developmental and epileptic encephalopathy, 34
p.Cys322Ter Single submitter developmental and epileptic encephalopathy, 34
p.Cys8Ter Single submitter developmental and epileptic encephalopathy, 34
p.Gln673Ter Single submitter developmental and epileptic encephalopathy, 34
p.Gln721Ter Single submitter developmental and epileptic encephalopathy, 34
p.Glu39Ter Single submitter developmental and epileptic encephalopathy, 34
p.Glu965fs Single submitter developmental and epileptic encephalopathy, 34
p.Gly178fs Single submitter developmental and epileptic encephalopathy, 34
p.Gly181fs Single submitter developmental and epileptic encephalopathy, 34
p.His768fs Single submitter developmental and epileptic encephalopathy, 34
p.Leu766fs Single submitter developmental and epileptic encephalopathy, 34
p.Leu840fs Single submitter developmental and epileptic encephalopathy, 34
p.Lys1017fs Single submitter developmental and epileptic encephalopathy, 34
p.Lys429fs Single submitter developmental and epileptic encephalopathy, 34
p.Lys630Ter Single submitter developmental and epileptic encephalopathy, 34
p.Phe321fs Single submitter developmental and epileptic encephalopathy, 34
p.Ser361fs Single submitter Paediatric disorders
p.Thr902_Tyr903insTer Single submitter developmental and epileptic encephalopathy, 34
p.Trp596Ter Single submitter developmental and epileptic encephalopathy, 34
p.Trp615Ter Single submitter developmental and epileptic encephalopathy, 34
p.Trp830Ter Single submitter developmental and epileptic encephalopathy, 34
p.Val237fs Single submitter developmental and epileptic encephalopathy, 34
p.Leu288His No assertion criteria developmental and epileptic encephalopathy, 34

Pathogenic/Likely pathogenic 1

p.Arg938Ter Multiple submitters developmental and epileptic encephalopathy, 34

Likely pathogenic 14

p.Gly528Asp Multiple submitters developmental and epileptic encephalopathy, 34
c.1337-2A>G Single submitter developmental and epileptic encephalopathy, 34
c.147+1G>A Single submitter developmental and epileptic encephalopathy, 34
c.2012+1G>T Single submitter developmental and epileptic encephalopathy, 34
c.2547+2T>G Single submitter epilepsy, idiopathic generalized, susceptibility to, 14
c.3110+1G>A Single submitter developmental and epileptic encephalopathy, 34
c.53-2A>C Single submitter developmental and epileptic encephalopathy, 34
c.53-2A>G Single submitter developmental and epileptic encephalopathy, 34
c.854+1G>A Single submitter developmental and epileptic encephalopathy, 34
c.855-1G>T Single submitter developmental and epileptic encephalopathy, 34
p.Gln344Ter Single submitter developmental and epileptic encephalopathy, 34
p.Gln870Pro Single submitter developmental and epileptic encephalopathy, 34
p.Leu403Pro Single submitter developmental and epileptic encephalopathy, 34
p.Pro209Leu Single submitter developmental and epileptic encephalopathy, 34

Conflicting classifications of pathogenicity 20

c.1395-3C>T Single submitter developmental and epileptic encephalopathy, 34
c.148-16C>G Single submitter developmental and epileptic encephalopathy, 34
c.1689-7G>A Single submitter developmental and epileptic encephalopathy, 34
c.2787+3G>A Single submitter developmental and epileptic encephalopathy, 34
c.3126-3dup Single submitter developmental and epileptic encephalopathy, 34
c.482-6C>T Single submitter developmental and epileptic encephalopathy, 34
p.Ala886= Single submitter developmental and epileptic encephalopathy, 34
p.Ala947Gly Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Arg296His Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Arg724Gln Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Arg777His Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Arg952His Single submitter epilepsy, idiopathic generalized, susceptibility to, 14 ⚠
p.Gly753= Single submitter developmental and epileptic encephalopathy, 34
p.Ile1060Val Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Ile792= Single submitter developmental and epileptic encephalopathy, 34
p.Met813Ile Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Phe326= Single submitter developmental and epileptic encephalopathy, 34
p.Pro818Ala Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Pro987Leu Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Val861= Single submitter developmental and epileptic encephalopathy, 34

Benign 35

c.1688+108A>C Multiple submitters
c.1787+61T>C Multiple submitters
c.2012+3T>A Multiple submitters developmental and epileptic encephalopathy, 34
c.2788-263T>A Multiple submitters
c.279+39C>T Multiple submitters
c.280-45C>T Multiple submitters developmental and epileptic encephalopathy, 34
c.53-112T>C Multiple submitters
p.Ala700= Multiple submitters developmental and epileptic encephalopathy, 34
p.Arg119= Multiple submitters developmental and epileptic encephalopathy, 34
p.Gly178= Multiple submitters developmental and epileptic encephalopathy, 34
p.Ile385= Multiple submitters developmental and epileptic encephalopathy, 34
p.Pro384Ala Multiple submitters developmental and epileptic encephalopathy, 34
p.Ser760= Multiple submitters developmental and epileptic encephalopathy, 34
p.Thr504= Multiple submitters developmental and epileptic encephalopathy, 34
c.121+1058GGA[12] Single submitter
c.121+1058GGA[13] Single submitter
c.121+1058GGA[15] Single submitter
c.121+1091_121+1111del Single submitter
c.121+1092_121+1093insGAGG Single submitter
c.121+1106_121+1132del Single submitter
c.121+1262C>T Single submitter
c.121+293A>G Single submitter
c.1395-59C>G Single submitter
c.1570-234C>T Single submitter
c.1570-316del Single submitter
c.2182-9del Single submitter developmental and epileptic encephalopathy, 34
c.2378-86G>A Single submitter
c.2911-26C>T Single submitter
c.427-285G>A Single submitter
c.481+93A>G Single submitter
c.52+19del Single submitter developmental and epileptic encephalopathy, 34
c.52+261G>A Single submitter
c.*2058G>A Single submitter
p.Ala652= Single submitter developmental and epileptic encephalopathy, 34
p.Gly642= Single submitter developmental and epileptic encephalopathy, 34

Benign/Likely benign 13

c.121+1091A>G Multiple submitters
c.1569+13G>A Multiple submitters developmental and epileptic encephalopathy, 34
c.2547+14G>A Multiple submitters developmental and epileptic encephalopathy, 34
c.482-19T>C Multiple submitters developmental and epileptic encephalopathy, 34
c.482-5T>C Multiple submitters developmental and epileptic encephalopathy, 34
c.52+21_52+35del Multiple submitters developmental and epileptic encephalopathy, 34
p.Asp935= Multiple submitters developmental and epileptic encephalopathy, 34
p.Gly801= Multiple submitters developmental and epileptic encephalopathy, 34
p.Ile706= Multiple submitters developmental and epileptic encephalopathy, 34
p.Phe565= Multiple submitters developmental and epileptic encephalopathy, 34
p.Thr32= Multiple submitters developmental and epileptic encephalopathy, 34
p.Thr397Ser Multiple submitters developmental and epileptic encephalopathy, 34
p.Thr787= Multiple submitters developmental and epileptic encephalopathy, 34

Likely benign 507

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

c.121+1058GGA[16] Multiple submitters
c.1237+17A>G Multiple submitters developmental and epileptic encephalopathy, 34
c.1337-8T>C Multiple submitters developmental and epileptic encephalopathy, 34
c.1569+18A>G Multiple submitters developmental and epileptic encephalopathy, 34
c.2013-10C>T Multiple submitters developmental and epileptic encephalopathy, 34
c.2377+10T>C Multiple submitters developmental and epileptic encephalopathy, 34
c.2378-14T>C Multiple submitters developmental and epileptic encephalopathy, 34
c.2378-18C>A Multiple submitters developmental and epileptic encephalopathy, 34
c.2547+13C>T Multiple submitters developmental and epileptic encephalopathy, 34
c.2548-8G>A Multiple submitters developmental and epileptic encephalopathy, 34
c.2548-9C>T Multiple submitters developmental and epileptic encephalopathy, 34
c.279+11C>T Multiple submitters developmental and epileptic encephalopathy, 34
c.279+12G>A Multiple submitters developmental and epileptic encephalopathy, 34
c.2911-18G>A Multiple submitters developmental and epileptic encephalopathy, 34
c.3110+18A>C Multiple submitters developmental and epileptic encephalopathy, 34
c.3126-10C>G Multiple submitters developmental and epileptic encephalopathy, 34
c.3126-15T>C Multiple submitters developmental and epileptic encephalopathy, 34
c.426+12C>G Multiple submitters developmental and epileptic encephalopathy, 34
c.426+13C>G Multiple submitters developmental and epileptic encephalopathy, 34
c.481+11G>A Multiple submitters developmental and epileptic encephalopathy, 34
c.613-14C>T Multiple submitters developmental and epileptic encephalopathy, 34
c.613-18C>T Multiple submitters developmental and epileptic encephalopathy, 34
c.855-19C>T Multiple submitters developmental and epileptic encephalopathy, 34
c.*2010G>C Multiple submitters
p.Ala1053= Multiple submitters developmental and epileptic encephalopathy, 34
p.Ala179= Multiple submitters developmental and epileptic encephalopathy, 34
p.Ala537= Multiple submitters
p.Ala947= Multiple submitters developmental and epileptic encephalopathy, 34
p.Arg646= Multiple submitters developmental and epileptic encephalopathy, 34
p.Arg659= Multiple submitters developmental and epileptic encephalopathy, 34
p.Arg883= Multiple submitters developmental and epileptic encephalopathy, 34
p.Asn810= Multiple submitters developmental and epileptic encephalopathy, 34
p.Asp10= Multiple submitters developmental and epileptic encephalopathy, 34
p.Asp827= Multiple submitters developmental and epileptic encephalopathy, 34
p.Asp834= Multiple submitters developmental and epileptic encephalopathy, 34
p.Glu734= Multiple submitters developmental and epileptic encephalopathy, 34
p.Glu969= Multiple submitters developmental and epileptic encephalopathy, 34
p.His833= Multiple submitters developmental and epileptic encephalopathy, 34
p.Ile439= Multiple submitters developmental and epileptic encephalopathy, 34
p.Ile560= Multiple submitters
p.Ile612= Multiple submitters developmental and epileptic encephalopathy, 34
p.Ile826= Multiple submitters developmental and epileptic encephalopathy, 34
p.Ile930= Multiple submitters developmental and epileptic encephalopathy, 34
p.Leu763= Multiple submitters developmental and epileptic encephalopathy, 34
p.Pro987= Multiple submitters developmental and epileptic encephalopathy, 34
p.Pro989= Multiple submitters developmental and epileptic encephalopathy, 34
p.Ser31= Multiple submitters developmental and epileptic encephalopathy, 34
p.Thr1052= Multiple submitters developmental and epileptic encephalopathy, 34
p.Thr312= Multiple submitters developmental and epileptic encephalopathy, 34
p.Thr314= Multiple submitters developmental and epileptic encephalopathy, 34
p.Thr580= Multiple submitters developmental and epileptic encephalopathy, 34
p.Thr99= Multiple submitters developmental and epileptic encephalopathy, 34
p.Tyr233= Multiple submitters developmental and epileptic encephalopathy, 34
p.Val123= Multiple submitters developmental and epileptic encephalopathy, 34
p.Val676= Multiple submitters developmental and epileptic encephalopathy, 34
p.Val92= Multiple submitters developmental and epileptic encephalopathy, 34
c.1066+14C>T Single submitter developmental and epileptic encephalopathy, 34
c.1066+18G>A Single submitter developmental and epileptic encephalopathy, 34
c.1066+7G>A Single submitter developmental and epileptic encephalopathy, 34
c.1067-12G>A Single submitter developmental and epileptic encephalopathy, 34
c.1067-12G>T Single submitter developmental and epileptic encephalopathy, 34
c.1067-13T>C Single submitter developmental and epileptic encephalopathy, 34
c.1067-14_1067-13del Single submitter developmental and epileptic encephalopathy, 34
c.1067-18C>T Single submitter developmental and epileptic encephalopathy, 34
c.1067-20A>C Single submitter developmental and epileptic encephalopathy, 34
c.1067-4A>G Single submitter developmental and epileptic encephalopathy, 34
c.121+1058GGA[10] Single submitter
c.121+1058GGA[14] Single submitter
c.121+1058GGA[9] Single submitter
c.121+1091del Single submitter
c.121+1093_121+1106del Single submitter
c.1237+11G>T Single submitter developmental and epileptic encephalopathy, 34
c.1237+13_1237+20dup Single submitter developmental and epileptic encephalopathy, 34
c.1237+19A>G Single submitter developmental and epileptic encephalopathy, 34
c.1238-10T>C Single submitter developmental and epileptic encephalopathy, 34
c.1238-16C>T Single submitter
c.1238-4G>A Single submitter developmental and epileptic encephalopathy, 34
c.1238-9G>A Single submitter developmental and epileptic encephalopathy, 34
c.1336+18G>A Single submitter developmental and epileptic encephalopathy, 34
c.1337-13T>A Single submitter developmental and epileptic encephalopathy, 34
c.1337-9C>T Single submitter developmental and epileptic encephalopathy, 34
c.1394+12G>A Single submitter developmental and epileptic encephalopathy, 34
c.1394+14G>A Single submitter developmental and epileptic encephalopathy, 34
c.1394+15G>A Single submitter
c.1394+16T>G Single submitter developmental and epileptic encephalopathy, 34
c.1395-12A>G Single submitter developmental and epileptic encephalopathy, 34
c.1395-12A>T Single submitter developmental and epileptic encephalopathy, 34
c.1395-6T>C Single submitter developmental and epileptic encephalopathy, 34
c.147+14G>A Single submitter developmental and epileptic encephalopathy, 34
c.147+17G>A Single submitter developmental and epileptic encephalopathy, 34
c.147+18T>G Single submitter developmental and epileptic encephalopathy, 34
c.147+19T>G Single submitter developmental and epileptic encephalopathy, 34
c.147+8G>T Single submitter developmental and epileptic encephalopathy, 34
c.147+9C>T Single submitter developmental and epileptic encephalopathy, 34
c.148-10C>T Single submitter developmental and epileptic encephalopathy, 34
c.148-13C>T Single submitter developmental and epileptic encephalopathy, 34
c.148-16C>T Single submitter
c.148-4A>G Single submitter developmental and epileptic encephalopathy, 34
c.148-8C>T Single submitter developmental and epileptic encephalopathy, 34
c.1569+15A>G Single submitter developmental and epileptic encephalopathy, 34
c.1569+19C>G Single submitter developmental and epileptic encephalopathy, 34
c.1569+9G>A Single submitter developmental and epileptic encephalopathy, 34
c.1570-11T>C Single submitter developmental and epileptic encephalopathy, 34
c.1570-12C>A Single submitter developmental and epileptic encephalopathy, 34
c.1570-5C>T Single submitter developmental and epileptic encephalopathy, 34
c.1570-6C>T Single submitter developmental and epileptic encephalopathy, 34
c.1688+12A>G Single submitter developmental and epileptic encephalopathy, 34
c.1688+14T>C Single submitter developmental and epileptic encephalopathy, 34
c.1688+20C>T Single submitter
c.1688+7G>A Single submitter developmental and epileptic encephalopathy, 34
c.1689-16C>T Single submitter developmental and epileptic encephalopathy, 34
c.1689-17G>A Single submitter developmental and epileptic encephalopathy, 34
c.1689-9G>A Single submitter developmental and epileptic encephalopathy, 34
c.1787+14C>T Single submitter developmental and epileptic encephalopathy, 34
c.1787+16C>T Single submitter developmental and epileptic encephalopathy, 34
c.1787+8C>T Single submitter developmental and epileptic encephalopathy, 34
c.1788-12C>A Single submitter developmental and epileptic encephalopathy, 34
c.1788-17C>A Single submitter developmental and epileptic encephalopathy, 34
c.1788-6G>T Single submitter developmental and epileptic encephalopathy, 34
c.1788-9C>G Single submitter developmental and epileptic encephalopathy, 34
c.1788-9C>T Single submitter developmental and epileptic encephalopathy, 34
c.1907+12G>A Single submitter
c.1907+7G>A Single submitter developmental and epileptic encephalopathy, 34
c.1908-10C>T Single submitter developmental and epileptic encephalopathy, 34
c.1908-11C>T Single submitter developmental and epileptic encephalopathy, 34
c.1908-15C>T Single submitter developmental and epileptic encephalopathy, 34
c.1908-19T>C Single submitter developmental and epileptic encephalopathy, 34
c.1908-9G>C Single submitter developmental and epileptic encephalopathy, 34
c.2012+14G>A Single submitter developmental and epileptic encephalopathy, 34
c.2012+14G>T Single submitter developmental and epileptic encephalopathy, 34
c.2012+17C>T Single submitter developmental and epileptic encephalopathy, 34
c.2012+18G>A Single submitter developmental and epileptic encephalopathy, 34
c.2012+18G>T Single submitter developmental and epileptic encephalopathy, 34
c.2012+19G>A Single submitter developmental and epileptic encephalopathy, 34
c.2012+20G>C Single submitter developmental and epileptic encephalopathy, 34
c.2013-15_2013-14del Single submitter developmental and epileptic encephalopathy, 34
c.2013-7T>C Single submitter developmental and epileptic encephalopathy, 34
c.2181+18T>C Single submitter developmental and epileptic encephalopathy, 34
c.2181+9A>C Single submitter developmental and epileptic encephalopathy, 34
c.2181+9A>G Single submitter developmental and epileptic encephalopathy, 34
c.2182-10C>G Single submitter developmental and epileptic encephalopathy, 34
c.2182-11C>A Single submitter developmental and epileptic encephalopathy, 34
c.2182-11C>T Single submitter developmental and epileptic encephalopathy, 34
c.2182-4C>T Single submitter developmental and epileptic encephalopathy, 34
c.2182-5C>G Single submitter developmental and epileptic encephalopathy, 34
c.2377+11T>C Single submitter developmental and epileptic encephalopathy, 34
c.2377+13G>A Single submitter developmental and epileptic encephalopathy, 34
c.2377+15G>A Single submitter developmental and epileptic encephalopathy, 34
c.2377+19G>T Single submitter developmental and epileptic encephalopathy, 34
c.2377+23_2377+45del Single submitter developmental and epileptic encephalopathy, 34
c.2377+9_2377+11del Single submitter developmental and epileptic encephalopathy, 34
c.2378-11G>C Single submitter developmental and epileptic encephalopathy, 34
c.2378-13T>G Single submitter developmental and epileptic encephalopathy, 34
c.2378-15C>T Single submitter developmental and epileptic encephalopathy, 34
c.2378-20C>G Single submitter developmental and epileptic encephalopathy, 34
c.2378-9C>T Single submitter developmental and epileptic encephalopathy, 34
c.2547+12G>A Single submitter developmental and epileptic encephalopathy, 34
c.2547+16G>C Single submitter developmental and epileptic encephalopathy, 34
c.2547+20G>A Single submitter developmental and epileptic encephalopathy, 34
c.2547+8G>T Single submitter developmental and epileptic encephalopathy, 34
c.2548-17C>T Single submitter developmental and epileptic encephalopathy, 34
c.2548-18C>T Single submitter developmental and epileptic encephalopathy, 34
c.2548-4G>T Single submitter
c.2548-5_2548-4delinsCT Single submitter developmental and epileptic encephalopathy, 34
c.2548-5T>C Single submitter
c.2548-8G>T Single submitter developmental and epileptic encephalopathy, 34
c.2679+13G>A Single submitter developmental and epileptic encephalopathy, 34
c.2679+13G>T Single submitter developmental and epileptic encephalopathy, 34
c.2679+14A>G Single submitter developmental and epileptic encephalopathy, 34
c.2679+18A>G Single submitter developmental and epileptic encephalopathy, 34
c.2679+19C>A Single submitter developmental and epileptic encephalopathy, 34
c.2679+20C>T Single submitter developmental and epileptic encephalopathy, 34
c.2679+8C>A Single submitter developmental and epileptic encephalopathy, 34
c.2679+8C>T Single submitter developmental and epileptic encephalopathy, 34
c.2680-12G>C Single submitter developmental and epileptic encephalopathy, 34
c.2680-14C>T Single submitter developmental and epileptic encephalopathy, 34
c.2680-15T>A Single submitter
c.2680-20C>T Single submitter developmental and epileptic encephalopathy, 34
c.2680-3C>T Single submitter developmental and epileptic encephalopathy, 34
c.2680-5C>T Single submitter developmental and epileptic encephalopathy, 34
c.2787+10C>T Single submitter developmental and epileptic encephalopathy, 34
c.2787+11C>A Single submitter developmental and epileptic encephalopathy, 34
c.2787+12C>G Single submitter developmental and epileptic encephalopathy, 34
c.2787+15G>A Single submitter
c.2787+17T>A Single submitter developmental and epileptic encephalopathy, 34
c.2788-14A>G Single submitter developmental and epileptic encephalopathy, 34
c.2788-14A>T Single submitter developmental and epileptic encephalopathy, 34
c.2788-8C>T Single submitter developmental and epileptic encephalopathy, 34
c.279+16G>T Single submitter developmental and epileptic encephalopathy, 34
c.279+19G>A Single submitter
c.279+8C>A Single submitter developmental and epileptic encephalopathy, 34
c.280-16C>A Single submitter developmental and epileptic encephalopathy, 34
c.280-17G>A Single submitter developmental and epileptic encephalopathy, 34
c.280-18T>C Single submitter developmental and epileptic encephalopathy, 34
c.280-19A>T Single submitter developmental and epileptic encephalopathy, 34
c.280-20G>C Single submitter developmental and epileptic encephalopathy, 34
c.280-8C>G Single submitter developmental and epileptic encephalopathy, 34
c.2910+16G>T Single submitter developmental and epileptic encephalopathy, 34
c.2910+18T>G Single submitter
c.2910+19T>C Single submitter developmental and epileptic encephalopathy, 34
c.2910+7A>C Single submitter developmental and epileptic encephalopathy, 34
c.2910+8G>C Single submitter developmental and epileptic encephalopathy, 34
c.2910+9C>T Single submitter developmental and epileptic encephalopathy, 34
c.2910+9del Single submitter developmental and epileptic encephalopathy, 34
c.2911-10C>T Single submitter developmental and epileptic encephalopathy, 34
c.2911-19C>T Single submitter developmental and epileptic encephalopathy, 34
c.2911-5C>T Single submitter developmental and epileptic encephalopathy, 34
c.2911-7C>A Single submitter developmental and epileptic encephalopathy, 34
c.3110+10T>C Single submitter developmental and epileptic encephalopathy, 34
c.3110+14G>A Single submitter developmental and epileptic encephalopathy, 34
c.3110+8C>G Single submitter developmental and epileptic encephalopathy, 34
c.3125+12A>G Single submitter developmental and epileptic encephalopathy, 34
c.3125+20T>C Single submitter developmental and epileptic encephalopathy, 34
c.3125+7G>A Single submitter developmental and epileptic encephalopathy, 34
c.3126-14_3126-12del Single submitter developmental and epileptic encephalopathy, 34
c.3126-17C>T Single submitter developmental and epileptic encephalopathy, 34
c.3126-19C>T Single submitter developmental and epileptic encephalopathy, 34
c.3126-20A>C Single submitter developmental and epileptic encephalopathy, 34
c.3126-5del Single submitter developmental and epileptic encephalopathy, 34
c.3126-6C>A Single submitter developmental and epileptic encephalopathy, 34
c.3259+18T>C Single submitter developmental and epileptic encephalopathy, 34
c.3259+20G>T Single submitter developmental and epileptic encephalopathy, 34
c.3260-9G>C Single submitter developmental and epileptic encephalopathy, 34
c.426+11C>A Single submitter developmental and epileptic encephalopathy, 34
c.426+12C>A Single submitter developmental and epileptic encephalopathy, 34
c.426+16C>A Single submitter developmental and epileptic encephalopathy, 34
c.426+17C>G Single submitter developmental and epileptic encephalopathy, 34
c.426+18C>A Single submitter developmental and epileptic encephalopathy, 34
c.427-16A>T Single submitter developmental and epileptic encephalopathy, 34
c.427-6T>C Single submitter developmental and epileptic encephalopathy, 34
c.427-7C>G Single submitter developmental and epileptic encephalopathy, 34
c.427-9dup Single submitter developmental and epileptic encephalopathy, 34
c.481+10T>G Single submitter developmental and epileptic encephalopathy, 34
c.481+12G>A Single submitter developmental and epileptic encephalopathy, 34
c.481+17T>C Single submitter developmental and epileptic encephalopathy, 34
c.481+19G>A Single submitter
c.482-8C>T Single submitter developmental and epileptic encephalopathy, 34
c.52+12T>G Single submitter developmental and epileptic encephalopathy, 34
c.52+13C>G Single submitter developmental and epileptic encephalopathy, 34
c.52+13C>T Single submitter developmental and epileptic encephalopathy, 34
c.52+14C>T Single submitter
c.52+15G>A Single submitter developmental and epileptic encephalopathy, 34
c.52+15G>C Single submitter developmental and epileptic encephalopathy, 34
c.52+19G>A Single submitter developmental and epileptic encephalopathy, 34
c.52+9T>C Single submitter developmental and epileptic encephalopathy, 34
c.53-16C>T Single submitter developmental and epileptic encephalopathy, 34
c.53-17C>A Single submitter developmental and epileptic encephalopathy, 34
c.53-9C>A Single submitter developmental and epileptic encephalopathy, 34
c.612+13GAG[2] Single submitter developmental and epileptic encephalopathy, 34
c.612+15G>A Single submitter developmental and epileptic encephalopathy, 34
c.612+22_612+24del Single submitter
c.613-5C>T Single submitter developmental and epileptic encephalopathy, 34
c.854+13G>T Single submitter developmental and epileptic encephalopathy, 34
c.854+14C>G Single submitter developmental and epileptic encephalopathy, 34
c.855-18C>T Single submitter developmental and epileptic encephalopathy, 34
c.855-6C>T Single submitter developmental and epileptic encephalopathy, 34
c.855-9T>A Single submitter developmental and epileptic encephalopathy, 34
c.-19C>T Single submitter
c.*1031G>A Single submitter
c.*1040C>T Single submitter
c.*1986G>T Single submitter
c.*2003T>C Single submitter
c.*914T>C Single submitter
c.*989G>A Single submitter
p.Ala15= Single submitter developmental and epileptic encephalopathy, 34
p.Ala210= Single submitter developmental and epileptic encephalopathy, 34
p.Ala212= Single submitter developmental and epileptic encephalopathy, 34
p.Ala223= Single submitter developmental and epileptic encephalopathy, 34
p.Ala225= Single submitter developmental and epileptic encephalopathy, 34
p.Ala278= Single submitter developmental and epileptic encephalopathy, 34
p.Ala303= Single submitter developmental and epileptic encephalopathy, 34
p.Ala350= Single submitter developmental and epileptic encephalopathy, 34
p.Ala380= Single submitter developmental and epileptic encephalopathy, 34
p.Ala438= Single submitter developmental and epileptic encephalopathy, 34
p.Ala512= Single submitter developmental and epileptic encephalopathy, 34
p.Ala530= Single submitter developmental and epileptic encephalopathy, 34
p.Ala575= Single submitter developmental and epileptic encephalopathy, 34
p.Ala608= Single submitter developmental and epileptic encephalopathy, 34
p.Ala618= Single submitter developmental and epileptic encephalopathy, 34
p.Ala960= Single submitter developmental and epileptic encephalopathy, 34
p.Arg1055= Single submitter developmental and epileptic encephalopathy, 34
p.Arg1065= Single submitter developmental and epileptic encephalopathy, 34
p.Arg1081= Single submitter developmental and epileptic encephalopathy, 34
p.Arg1100= Single submitter developmental and epileptic encephalopathy, 34
p.Arg316= Single submitter developmental and epileptic encephalopathy, 34
p.Arg325= Single submitter developmental and epileptic encephalopathy, 34
p.Arg337= Single submitter developmental and epileptic encephalopathy, 34
p.Arg420= Single submitter
p.Arg592= Single submitter developmental and epileptic encephalopathy, 34
p.Arg724= Single submitter developmental and epileptic encephalopathy, 34
p.Arg777= Single submitter developmental and epileptic encephalopathy, 34
p.Arg789= Single submitter developmental and epileptic encephalopathy, 34
p.Arg928= Single submitter developmental and epileptic encephalopathy, 34
p.Arg938= Single submitter developmental and epileptic encephalopathy, 34
p.Arg943= Single submitter developmental and epileptic encephalopathy, 34
p.Arg952= Single submitter developmental and epileptic encephalopathy, 34
p.Arg96= Single submitter developmental and epileptic encephalopathy, 34
p.Asn1073= Single submitter developmental and epileptic encephalopathy, 34
p.Asn1080= Single submitter developmental and epileptic encephalopathy, 34
p.Asn1082= Single submitter developmental and epileptic encephalopathy, 34

Uncertain significance 370

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

c.1570-3C>G Multiple submitters developmental and epileptic encephalopathy, 34
c.3110+4C>T Multiple submitters developmental and epileptic encephalopathy, 34
c.53-3C>T Multiple submitters developmental and epileptic encephalopathy, 34
p.Ala306Thr Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Ala440Thr Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Ala94Asp Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Ala979Thr Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Arg1048Trp Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Arg1049Cys Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Arg1049His Multiple submitters SLC12A5-related disorder ⚠
p.Arg119Trp Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Arg231His Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Arg316Gln Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Arg679His Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Arg731Cys Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Arg751His Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Arg780Cys Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Arg846Gln Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Arg912His Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Arg926Gln Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Arg926Trp Multiple submitters developmental and epileptic encephalopathy, 34
p.Arg96Cys Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Arg96His Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Asn328Ser Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Asn954Asp Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 14 ⚠
p.Asp33Asn Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 14 ⚠
p.Asp897Asn Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 14 ⚠
p.Asp976Asn Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Cys134Tyr Multiple submitters developmental and epileptic encephalopathy, 34
p.Gln1044Leu Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Gln673Glu Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Gln767Arg Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Glu819Lys Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Glu889Lys Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Glu958Lys Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Glu965Gln Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Gly1028Asp Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Gly177Arg Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Gly234Ser Multiple submitters ⚠
p.Gly382Asp Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Gly995Ala Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.His975Gln Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Ile436Val Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Ile792Asn Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Leu320Phe Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Leu358Val Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Leu677Met Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Leu750Met Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Leu766Met Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Lys250Asn Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Lys702Arg Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Lys737Arg Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Met230Val Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Met97Leu Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Phe715Leu Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Phe791Leu Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Pro1001Leu Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Pro106Leu Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Pro520Ser Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Pro95Leu Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Ser483Pro Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Ser978Asn Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Thr143Met Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Thr336Ala Multiple submitters ⚠
p.Thr580Met Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Thr787Met Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 14 ⚠
p.Thr959Met Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Tyr593Phe Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Tyr880Cys Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Val258Ile Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Val313Leu Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Val367Met Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Val450Ile Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 14 ⚠
p.Val461Ile Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Val475Met Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
p.Val955Ile Multiple submitters developmental and epileptic encephalopathy, 34 ⚠
c.1066+5G>T Single submitter developmental and epileptic encephalopathy, 34
c.1066+6C>T Single submitter developmental and epileptic encephalopathy, 34
c.1237+6G>A Single submitter developmental and epileptic encephalopathy, 34
c.1688+2T>C Single submitter
c.1688+4C>T Single submitter
c.1907+11G>T Single submitter
c.1907+5G>A Single submitter developmental and epileptic encephalopathy, 34
c.1908-9G>A Single submitter developmental and epileptic encephalopathy, 34
c.2181+3G>A Single submitter developmental and epileptic encephalopathy, 34
c.2181+5_2181+6delinsAA Single submitter developmental and epileptic encephalopathy, 34
c.2377+5C>T Single submitter developmental and epileptic encephalopathy, 34
c.2787+6G>A Single submitter developmental and epileptic encephalopathy, 34
c.280-6T>G Single submitter
c.2910+3G>A Single submitter developmental and epileptic encephalopathy, 34
c.2911-3C>T Single submitter developmental and epileptic encephalopathy, 34
c.3110+5G>A Single submitter developmental and epileptic encephalopathy, 34
c.427-3C>T Single submitter developmental and epileptic encephalopathy, 34
c.855-66G>A Single submitter developmental and epileptic encephalopathy, 34
p.Ala1067Gly Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Ala1067Thr Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Ala205Thr Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Ala219Thr Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Ala224Thr Single submitter ⚠
p.Ala242Thr Single submitter ⚠
p.Ala303Gly Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Ala329Thr Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Ala455Thr Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Ala506Asp Single submitter ⚠
p.Ala652Val Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Ala66Val Single submitter developmental and epileptic encephalopathy, 34
p.Ala722Val Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Ala81Val Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Ala886Val Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Ala947Asp Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Ala960Gly Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Arg1048Gln Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Arg1065Trp Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Arg1081His Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Arg1081Leu Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Arg119Gln Single submitter ⚠
p.Arg325His Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Arg371Lys Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Arg371Trp Single submitter ⚠
p.Arg420His Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Arg463Gly Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Arg463Trp Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Arg508Cys Single submitter epilepsy, idiopathic generalized, susceptibility to, 14 ⚠
p.Arg508His Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Arg590Cys Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Arg592Gln Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Arg635His Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Arg646Gly Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Arg654Cys Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Arg654His Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Arg654Ser Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Arg659Cys Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Arg679Cys Single submitter ⚠
p.Arg780His Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Arg796Gln Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Arg820His Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Arg846Trp Single submitter ⚠
p.Arg852Trp Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Arg857Cys Single submitter ⚠
p.Arg857His Single submitter epilepsy, idiopathic generalized, susceptibility to, 14 ⚠
p.Arg928Gln Single submitter epilepsy, idiopathic generalized, susceptibility to, 14 ⚠
p.Arg952Cys Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Arg96Leu Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Arg96Ser Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Asn1043Ser Single submitter ⚠
p.Asn1073Ser Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Asn228Lys Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Asn283Ser Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Asn586Ser Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Asn84Lys Single submitter ⚠
p.Asn954Lys Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Asp1011Asn Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Asp1011Glu Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Asp1031His Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Asp1084Asn Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Asp10Glu Single submitter developmental and epileptic encephalopathy, 34
p.Asp280Asn Single submitter ⚠
p.Asp300Glu Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Asp332Gly Single submitter developmental and epileptic encephalopathy, 34
p.Asp381Asn Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Asp386Asn Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Asp681Asn Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Asp784Tyr Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Asp7Glu Single submitter developmental and epileptic encephalopathy, 34
p.Asp962Gly Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Cys140Arg Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Cys543Tyr Single submitter ⚠
p.Cys568Arg Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Cys613Gly Single submitter ⚠
p.Gln1044Arg Single submitter ⚠
p.Gln109Arg Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Gln918His Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Glu1016Gly Single submitter ⚠
p.Glu1027Gly Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Glu1058del Single submitter developmental and epileptic encephalopathy, 34
p.Glu1089Asp Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Glu1110= Single submitter developmental and epileptic encephalopathy, 34
p.Glu201Lys Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Glu217Ter Single submitter epilepsy, idiopathic generalized, susceptibility to, 14
p.Glu342Lys Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Glu39Val Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Glu458Asp Single submitter developmental and epileptic encephalopathy, 34
p.Glu468Lys Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Glu49= Single submitter developmental and epileptic encephalopathy, 34
p.Glu546Gln Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Glu556Gly Single submitter developmental and epileptic encephalopathy, 34
p.Glu661= Single submitter developmental and epileptic encephalopathy, 34
p.Glu662dup Single submitter developmental and epileptic encephalopathy, 34
p.Glu895Asp Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Glu904Asp Single submitter ⚠
p.Glu936Lys Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Glu936Val Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Glu964Lys Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Glu965Lys Single submitter ⚠
p.Glu970= Single submitter developmental and epileptic encephalopathy, 34
p.Glu9Gly Single submitter
p.Glu9Lys Single submitter developmental and epileptic encephalopathy, 34
p.Gly102Ser Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Gly157Asp Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Gly187Cys Single submitter ⚠
p.Gly18Asp Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Gly18Ser Single submitter developmental and epileptic encephalopathy, 34
p.Gly192Ala Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Gly198Asp Single submitter ⚠
p.Gly298Val Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Gly309Glu Single submitter ⚠
p.Gly319Ser Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Gly345Ser Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Gly378Ser Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Gly37Arg Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Gly382Ser Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Gly42Asp Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Gly42Cys Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Gly434Asp Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Gly753Ala Single submitter ⚠
p.Gly801Asp Single submitter developmental and epileptic encephalopathy, 34
p.Gly816= Single submitter developmental and epileptic encephalopathy, 34
p.Gly835Ala Single submitter ⚠
p.Gly86Ser Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Gly87Arg Single submitter ⚠
p.Gly997Arg Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Gly997Glu Single submitter ⚠
p.His719Asn Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.His847Gln Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.His894Gln Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Ile126Thr Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Ile138Ser Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Ile153Phe Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Ile196Asn Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Ile29Thr Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Ile354Val Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Ile431Val Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Ile457Val Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Ile489Phe Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Ile547Thr Single submitter ⚠
p.Ile549Val Single submitter ⚠
p.Ile612Val Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Ile729Phe Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Ile792Thr Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Leu289Arg Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Leu500Pro Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Leu538Pro Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Leu540Pro Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Leu598fs Single submitter
p.Leu692Phe Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Leu698Met Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Leu711Phe Single submitter developmental and epileptic encephalopathy, 34
p.Leu766Arg Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Leu803Val Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Lys1010Glu Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Lys1030Glu Single submitter ⚠
p.Lys1068Met Single submitter ⚠
p.Lys215Asn Single submitter
p.Lys250Thr Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Lys365Glu Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Lys36Asn Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Lys849= Single submitter developmental and epileptic encephalopathy, 34
p.Lys849Glu Single submitter epilepsy, idiopathic generalized, susceptibility to, 14 ⚠
p.Lys917Arg Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Lys923Glu Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Lys944Thr Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Met1035Ile Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Met1074Ile Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Met135Val Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Met211Val Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Met230Arg Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Met241Ile Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Met387Ile Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Met387Val Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Met415Val Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Met563Thr Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Met57Ile Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Met610Val Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Met837Ile Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Met864Ile Single submitter ⚠
p.Met893Thr Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Met909Val Single submitter ⚠
p.Phe100Ile Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Phe1032Leu Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Phe1033Cys Single submitter ⚠
p.Phe112Leu Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Phe137Leu Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Phe284Cys Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Phe321Leu Single submitter epilepsy, idiopathic generalized, susceptibility to, 14 ⚠
p.Phe48Ser Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Pro1001Arg Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Pro1001Ser Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Pro1021Leu Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Pro1023Ala Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Pro1037Leu Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Pro1075Ala Single submitter ⚠
p.Pro17Arg Single submitter developmental and epileptic encephalopathy, 34
p.Pro22Thr Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Pro390Ala Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Pro534Ala Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Pro559Arg Single submitter developmental and epileptic encephalopathy, 34 ⚠
p.Pro56Leu Single submitter ⚠
p.Pro664Thr Single submitter ⚠
p.Pro689Ser Single submitter ⚠
p.Pro815Ser Single submitter developmental and epileptic encephalopathy, 34 ⚠