ALG13 — 1196 ClinVar variants

All ClinVar germline ALG13 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 468 flagged for review →

2 Pathogenic · 2 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 59 Conflicting · 40 Benign · 55 Benign/Likely benign · 541 Likely benign · 490 Uncertain significance

Full ALG13 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 468

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 3

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

ALG13 p.Leu480Val Likely pathogenic Single submitter
ALG13 p.Pro1005Ser Pathogenic/Likely pathogenic No assertion criteria
Neurodevelopmental delay
ALG13 p.Val758Phe Likely pathogenic No assertion criteria
microcephaly

Predictors agree, ClinVar conflicts 41

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

ALG13 p.Ala1048Gly Conflicting Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Ala140Val Conflicting Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Ala151Val Conflicting Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Ala406Val Conflicting Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Ala869Val Conflicting Single submitter
Inborn genetic diseases
ALG13 p.Arg614Ser Conflicting Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Arg701His Conflicting Single submitter
ALG13 p.Asn426Ser Conflicting Single submitter
Inborn genetic diseases
ALG13 p.Asn435Ser Conflicting Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Asn857Ser Conflicting Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Asn858Ser Conflicting Single submitter
Inborn genetic diseases
ALG13 p.Asp608His Conflicting Single submitter
Inborn genetic diseases
ALG13 p.Cys992Tyr Conflicting Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Gln1110His Conflicting Single submitter
Inborn genetic diseases
ALG13 p.Gln355Arg Conflicting Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Gln776His Conflicting Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Glu30Ala Conflicting Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Glu404Lys Conflicting Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Glu69Asp Conflicting Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Glu738Gly Conflicting Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Glu801Asp Conflicting Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Gly605Ser Conflicting Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Gly652Asp Conflicting Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Gly652Cys Conflicting Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Gly770Glu Conflicting Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.His641Asp Conflicting Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.His703Arg Conflicting Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Ile885Thr Conflicting Single submitter
intellectual disability
ALG13 p.Leu337Gln Conflicting Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Leu611Val Conflicting Single submitter
Inborn genetic diseases
ALG13 p.Met637Thr Conflicting Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Met829Val Conflicting Single submitter
Inborn genetic diseases
ALG13 p.Pro1080Leu Conflicting Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Pro754Ser Conflicting Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Ser1093Phe Conflicting Single submitter
Inborn genetic diseases
ALG13 p.Ser297Asn Conflicting Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Ser618Thr Conflicting Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Thr438Lys Conflicting Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Thr812Ala Conflicting Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Tyr211Cys Conflicting Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Val47Ile Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 366

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 366

ALG13 p.Ala1044Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Ala173Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Ala191Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Ala22Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Ala540Val Uncertain significance Multiple submitters
Inborn genetic diseases
ALG13 p.Ala800Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Arg704Cys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Arg791Gln Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Asn218Asp Uncertain significance Multiple submitters
Inborn genetic diseases
ALG13 p.Asn511Ser Uncertain significance Multiple submitters
ALG13-related disorder
ALG13 p.Asn555Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Asn858Asp Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Asp1091His Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Asp334Gly Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Asp948Asn Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Cys125Gly Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Cys855Tyr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Gln1006Arg Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Gln273Pro Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Gln492Glu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Gln492His Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Gln822Arg Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Gln832Pro Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Gln842Arg Uncertain significance Multiple submitters
SUDDEN INFANT DEATH SYNDROME
ALG13 p.Glu119Gln Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Glu271Gly Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Glu951Asp Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Gly1113Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Gly422Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Gly570Glu Uncertain significance Multiple submitters
Inborn genetic diseases
ALG13 p.Gly763Ala Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Gly896Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.His1099Gln Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.His1112Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.His190Tyr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.His628Arg Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.His771Arg Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Ile1042Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Ile336Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Ile385Met Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Ile911Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy
ALG13 p.Leu778Phe Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Leu947Phe Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Leu96Phe Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Lys674Asn Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Lys68Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ALG13 p.Phe314Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Pro1087Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Pro180Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Pro613Arg Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Pro649Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Pro746Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Pro919Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Pro95Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Ser25Asn Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Ser297Cys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Ser31Asn Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Ser638Ala Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Ser66Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
ALG13 p.Ser693Phe Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Ser826Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Ser865Phe Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Ser865Pro Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Ser875Asn Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Ser880Tyr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Thr181Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Thr761Ile Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Thr813Ala Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Thr894Ala Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Tyr1066Cys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Tyr326Cys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Tyr565Cys Uncertain significance Multiple submitters
ALG13-related disorder
ALG13 p.Tyr689Cys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Tyr715Phe Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Tyr764Cys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Tyr798His Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Tyr840Cys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Val1101Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Val548Ala Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Val879Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Val890Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Ala1064Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Ala1124Thr Uncertain significance Single submitter
Inborn genetic diseases
ALG13 p.Ala1129Pro Uncertain significance Single submitter
ALG13 p.Ala113Thr Uncertain significance Single submitter
ALG13 p.Ala140Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Ala142Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Ala22Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Ala540Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Ala633Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Ala814Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Ala81Thr Uncertain significance Single submitter
microcephaly
ALG13 p.Ala861Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Ala884Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Ala901Gly Uncertain significance Single submitter
ALG13 p.Arg1038Ile Uncertain significance Single submitter
ALG13 p.Arg128Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Arg290Trp Uncertain significance Single submitter
ALG13 p.Arg304Ser Uncertain significance Single submitter
ALG13 p.Arg43Lys Uncertain significance Single submitter
ALG13 p.Arg466His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Arg594Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Arg653Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Arg663Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Arg663Trp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Arg697Cys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Arg697His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Arg704His Uncertain significance Single submitter
ALG13 p.Arg799His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Asn1049Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Asn107Lys Uncertain significance Single submitter
ALG13 p.Asn1116Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Asn210His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Asn218Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Asn218Ser Uncertain significance Single submitter
ALG13 p.Asn311Asp Uncertain significance Single submitter
ALG13 p.Asn330Ser Uncertain significance Single submitter
ALG13 p.Asn416Asp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Asn435Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Asn521Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Asn522Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Asn710His Uncertain significance Single submitter
ALG13 p.Asn779Lys Uncertain significance Single submitter
ALG13 p.Asn784Lys Uncertain significance Single submitter
ALG13 p.Asn784Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Asn784Thr Uncertain significance Single submitter
Inborn genetic diseases
ALG13 p.Asn789Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Asn839Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Asn857Tyr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Asn871Asp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Asp1026Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Asp1040Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Asp15Asn Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Asp239Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Asp24Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Asp372Asn Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Asp409His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Asp484Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Asp624Asn Uncertain significance Single submitter
ALG13 p.Asp65Asn Uncertain significance Single submitter
Inborn genetic diseases
ALG13 p.Asp676Ala Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Asp676Tyr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Asp741Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Cys1032Tyr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Cys1094Phe Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Cys1094Tyr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Cys253Tyr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Cys685Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Cys765Arg Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Cys827Arg Uncertain significance Single submitter

Predictors split 58

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

ALG13 p.Arg290Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ALG13 p.Arg318Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ALG13 p.Asn107Ser Pathogenic/Likely pathogenic Multiple submitters
ALG13-related disorder
ALG13 p.Gly299Asp Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Gly344Asp Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Lys335Gln Uncertain significance Multiple submitters
ALG13-related disorder
ALG13 p.Phe284Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Phe5Leu Likely benign Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Pro919Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Pro920Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Pro923Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Pro943Ala Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Ser55Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Ser702Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ALG13 p.Trp554Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 36
ALG13 p.Ala246Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Arg312Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Arg312Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Arg318His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Asp497Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Gly972Val Uncertain significance Single submitter
congenital disorder of glycosylation
ALG13 p.His117Leu Conflicting Single submitter
Inborn genetic diseases
ALG13 p.Ile385Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Ile38Met Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Leu288Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Leu381Phe Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Lys286Asn Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Lys286Glu Uncertain significance Single submitter
ALG13 p.Lys449Met Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Lys64Arg Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Met222Ile Uncertain significance Single submitter
ALG13 p.Met269Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Met450Thr Uncertain significance Single submitter
ALG13 p.Phe1082Leu Uncertain significance Single submitter
ALG13 p.Phe252Leu Conflicting Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Pro294Ala Conflicting Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Pro294Ser Conflicting Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Pro919Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Pro923Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Pro931Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Pro932Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Pro932Leu Conflicting Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Pro934Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Pro934Ser Conflicting Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Pro936His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Pro939Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Pro940Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Pro943Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Pro945Leu Uncertain significance Single submitter
ALG13 p.Pro959Thr Uncertain significance Single submitter
ALG13 p.Pro962Ser Likely benign Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Ser216Pro Likely benign Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Ser228Asn Likely benign Single submitter
ALG13 p.Ser228Ile Uncertain significance Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Ser297Gly Likely benign Single submitter
developmental and epileptic encephalopathy, 36
ALG13 p.Tyr124Cys Conflicting Single submitter
Inborn genetic diseases
ALG13 p.Tyr124Ser Uncertain significance Single submitter
ALG13 p.Tyr332Cys Benign Single submitter
developmental and epileptic encephalopathy, 36

All ALG13 variants

Pathogenic 2

p.Gln40His Single submitter developmental and epileptic encephalopathy, 36
p.Lys94Glu No assertion criteria developmental and epileptic encephalopathy, 36

Pathogenic/Likely pathogenic 2

p.Asn107Ser Multiple submitters ALG13-related disorder ⚠
p.Pro1005Ser No assertion criteria Neurodevelopmental delay ⚠

Likely pathogenic 7

p.Asn107Ile Single submitter developmental and epileptic encephalopathy, 36
p.Gly44Glu Single submitter developmental and epileptic encephalopathy, 36
p.Ile17Asn Single submitter congenital disorder of glycosylation
p.Leu480Val Single submitter ⚠
p.Ser138fs Single submitter Seizure
p.Glu69del No assertion criteria congenital disorder of glycosylation
p.Val758Phe No assertion criteria microcephaly ⚠

Conflicting classifications of pathogenicity 59

c.1005+4A>G Single submitter developmental and epileptic encephalopathy, 36
c.2529+6C>G Single submitter developmental and epileptic encephalopathy, 36
p.Ala1048Gly Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Ala140Val Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Ala151Val Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Ala406Val Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Ala869= Single submitter developmental and epileptic encephalopathy, 36
p.Ala869Val Single submitter Inborn genetic diseases ⚠
p.Arg614Ser Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Arg701His Single submitter ⚠
p.Asn426Ser Single submitter Inborn genetic diseases ⚠
p.Asn435Ser Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Asn857Ser Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Asn858Ser Single submitter Inborn genetic diseases ⚠
p.Asp608His Single submitter Inborn genetic diseases ⚠
p.Cys992Tyr Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Gln1010del Single submitter developmental and epileptic encephalopathy, 36
p.Gln1110His Single submitter Inborn genetic diseases ⚠
p.Gln355Arg Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Gln776His Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Glu30Ala Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Glu404Lys Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Glu69Asp Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Glu738Gly Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Glu801Asp Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Gly207= Single submitter developmental and epileptic encephalopathy, 36
p.Gly605Ser Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Gly652Asp Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Gly652Cys Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Gly770Glu Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Gly82= Single submitter developmental and epileptic encephalopathy, 36
p.His117Leu Single submitter Inborn genetic diseases ⚠
p.His121Arg Single submitter hereditary ataxia
p.His641Asp Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.His703Arg Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Ile885Thr Single submitter intellectual disability ⚠
p.Leu337Gln Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Leu611Val Single submitter Inborn genetic diseases ⚠
p.Leu961_Pro965del Single submitter developmental and epileptic encephalopathy, 36
p.Met637Thr Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Met829Val Single submitter Inborn genetic diseases ⚠
p.Phe252Leu Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Pro1080Leu Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Pro294Ala Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Pro294Ser Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Pro754Ser Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Pro932Leu Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Pro934Ser Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Pro944_Pro945del Single submitter developmental and epileptic encephalopathy, 36
p.Pro960dup Single submitter Inborn genetic diseases
p.Ser1093Phe Single submitter Inborn genetic diseases ⚠
p.Ser297Asn Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Ser343= Single submitter developmental and epileptic encephalopathy, 36
p.Ser618Thr Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Thr438Lys Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Thr812Ala Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Tyr124Cys Single submitter Inborn genetic diseases ⚠
p.Tyr211Cys Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Val47Ile Single submitter Inborn genetic diseases ⚠

Benign 40

c.1006-97A>G Multiple submitters
c.1435+5A>T Multiple submitters developmental and epileptic encephalopathy, 36
c.1729+61G>A Multiple submitters
c.384-213C>T Multiple submitters
c.835-22T>C Multiple submitters
p.Gln547= Multiple submitters developmental and epileptic encephalopathy, 36
p.Gly422= Multiple submitters Inborn genetic diseases
p.Pro431= Multiple submitters Inborn genetic diseases
p.Pro945del Multiple submitters developmental and epileptic encephalopathy, 36
p.Tyr61= Multiple submitters Inborn genetic diseases
c.1250+111C>T Single submitter
c.1250+8del Single submitter developmental and epileptic encephalopathy, 36
c.2248-14TC[2] Single submitter developmental and epileptic encephalopathy, 36
c.2530-262C>T Single submitter
c.2932+17A>G Single submitter developmental and epileptic encephalopathy, 36
c.383+1129G>A Single submitter
c.383+239dup Single submitter
c.383+2786C>T Single submitter developmental and epileptic encephalopathy, 36
c.383+831G>A Single submitter
c.82-10C>T Single submitter developmental and epileptic encephalopathy, 36
c.82-150_82-149insCTTTA Single submitter
c.834+14A>G Single submitter developmental and epileptic encephalopathy, 36
c.834+194A>G Single submitter
p.Ala363= Single submitter developmental and epileptic encephalopathy, 36
p.Arg396= Single submitter developmental and epileptic encephalopathy, 36
p.Asn954Asp Single submitter developmental and epileptic encephalopathy, 36
p.Ile1115Val Single submitter developmental and epileptic encephalopathy, 36
p.Leu780Val Single submitter developmental and epileptic encephalopathy, 36
p.Lys286Arg Single submitter developmental and epileptic encephalopathy, 36
p.Lys606= Single submitter developmental and epileptic encephalopathy, 36
p.Met757Val Single submitter developmental and epileptic encephalopathy, 36
p.Pro671Leu Single submitter developmental and epileptic encephalopathy, 36
p.Pro679= Single submitter developmental and epileptic encephalopathy, 36
p.Pro932_Pro933insLeu Single submitter developmental and epileptic encephalopathy, 36
p.Ser267= Single submitter developmental and epileptic encephalopathy, 36
p.Ser917_Leu918insHis Single submitter developmental and epileptic encephalopathy, 36
p.Ser996Asn Single submitter developmental and epileptic encephalopathy, 36
p.Thr126= Single submitter developmental and epileptic encephalopathy, 36
p.Tyr332Cys Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Tyr715= Single submitter developmental and epileptic encephalopathy, 36

Benign/Likely benign 55

c.1006-14G>A Multiple submitters developmental and epileptic encephalopathy, 36
c.1327-19A>G Multiple submitters developmental and epileptic encephalopathy, 36
c.1435+20A>G Multiple submitters developmental and epileptic encephalopathy, 36
c.1601+11G>A Multiple submitters developmental and epileptic encephalopathy, 36
c.1729+14A>G Multiple submitters developmental and epileptic encephalopathy, 36
c.2248-15G>C Multiple submitters developmental and epileptic encephalopathy, 36
c.2248-4A>G Multiple submitters developmental and epileptic encephalopathy, 36
c.2369-19T>C Multiple submitters developmental and epileptic encephalopathy, 36
c.2401+12C>A Multiple submitters developmental and epileptic encephalopathy, 36
c.2457+15_2457+17del Multiple submitters developmental and epileptic encephalopathy, 36
c.2457+16T>C Multiple submitters developmental and epileptic encephalopathy, 36
c.2457+17A>C Multiple submitters developmental and epileptic encephalopathy, 36
c.2933-14A>G Multiple submitters developmental and epileptic encephalopathy, 36
c.2933-15G>T Multiple submitters developmental and epileptic encephalopathy, 36
c.2974-7G>T Multiple submitters developmental and epileptic encephalopathy, 36
c.383+1029A>G Multiple submitters developmental and epileptic encephalopathy, 36
c.383+1033G>A Multiple submitters
c.383+8A>G Multiple submitters developmental and epileptic encephalopathy, 36
c.384-5C>T Multiple submitters Inborn genetic diseases
c.751-8_751-6del Multiple submitters Inborn genetic diseases
c.886-16C>A Multiple submitters developmental and epileptic encephalopathy, 36
p.Ala1044= Multiple submitters developmental and epileptic encephalopathy, 36
p.Ala384= Multiple submitters developmental and epileptic encephalopathy, 36
p.Ala760Ser Multiple submitters developmental and epileptic encephalopathy, 36
p.Ala873Pro Multiple submitters Inborn genetic diseases
p.Arg36= Multiple submitters Inborn genetic diseases
p.Asn35Ser Multiple submitters Inborn genetic diseases
p.Asp14Glu Multiple submitters Inborn genetic diseases
p.Gln1031= Multiple submitters Inborn genetic diseases
p.Gln872= Multiple submitters developmental and epileptic encephalopathy, 36
p.Glu795= Multiple submitters developmental and epileptic encephalopathy, 36
p.Glu795del Multiple submitters Inborn genetic diseases
p.Gly120= Multiple submitters developmental and epileptic encephalopathy, 36
p.Gly790Glu Multiple submitters developmental and epileptic encephalopathy, 36
p.His895= Multiple submitters developmental and epileptic encephalopathy, 36
p.Ile1120Val Multiple submitters developmental and epileptic encephalopathy, 36
p.Leu531= Multiple submitters Inborn genetic diseases
p.Leu96= Multiple submitters developmental and epileptic encephalopathy, 36
p.Met657Ile Multiple submitters developmental and epileptic encephalopathy, 36
p.Phe162= Multiple submitters developmental and epileptic encephalopathy, 36
p.Pro50= Multiple submitters developmental and epileptic encephalopathy, 36
p.Pro671= Multiple submitters developmental and epileptic encephalopathy, 36
p.Pro944_Pro945dup Multiple submitters developmental and epileptic encephalopathy, 36
p.Ser213Asn Multiple submitters Inborn genetic diseases
p.Ser891Phe Multiple submitters Inborn genetic diseases
p.Ter1138Tyr Multiple submitters developmental and epileptic encephalopathy, 36
p.Thr1020Ala Multiple submitters developmental and epileptic encephalopathy, 36
p.Thr325= Multiple submitters Inborn genetic diseases
p.Thr756Ala Multiple submitters Inborn genetic diseases
p.Tyr1003Cys Multiple submitters Inborn genetic diseases
p.Tyr1074Cys Multiple submitters developmental and epileptic encephalopathy, 36
p.Tyr326= Multiple submitters developmental and epileptic encephalopathy, 36
p.Tyr966= Multiple submitters developmental and epileptic encephalopathy, 36
p.Val1013= Multiple submitters Inborn genetic diseases
p.Val1133= Multiple submitters developmental and epileptic encephalopathy, 36

Likely benign 541

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

c.1087+18A>G Multiple submitters developmental and epileptic encephalopathy, 36
c.1602-15C>T Multiple submitters developmental and epileptic encephalopathy, 36
c.1729+18T>G Multiple submitters developmental and epileptic encephalopathy, 36
c.1976+20G>A Multiple submitters developmental and epileptic encephalopathy, 36
c.1977-12C>T Multiple submitters developmental and epileptic encephalopathy, 36
c.2091-8C>G Multiple submitters developmental and epileptic encephalopathy, 36
c.2248-11C>T Multiple submitters developmental and epileptic encephalopathy, 36
c.2368+10T>G Multiple submitters developmental and epileptic encephalopathy, 36
c.2401+9G>T Multiple submitters developmental and epileptic encephalopathy, 36
c.2402-11A>G Multiple submitters developmental and epileptic encephalopathy, 36
c.2457+14A>G Multiple submitters developmental and epileptic encephalopathy, 36
c.2695+15G>A Multiple submitters developmental and epileptic encephalopathy, 36
c.2695+15G>C Multiple submitters developmental and epileptic encephalopathy, 36
c.2973+20T>A Multiple submitters developmental and epileptic encephalopathy, 36
c.3149-12C>T Multiple submitters developmental and epileptic encephalopathy, 36
c.383+2827A>C Multiple submitters
c.835-264T>G Multiple submitters
c.886-13T>C Multiple submitters developmental and epileptic encephalopathy, 36
c.886-17A>G Multiple submitters developmental and epileptic encephalopathy, 36
c.886-19A>G Multiple submitters developmental and epileptic encephalopathy, 36
c.-7C>T Multiple submitters
c.-9A>G Multiple submitters
p.Ala142= Multiple submitters developmental and epileptic encephalopathy, 36
p.Ala151= Multiple submitters developmental and epileptic encephalopathy, 36
p.Ala18= Multiple submitters developmental and epileptic encephalopathy, 36
p.Ala459= Multiple submitters developmental and epileptic encephalopathy, 36
p.Ala532= Multiple submitters Inborn genetic diseases
p.Asn101= Multiple submitters developmental and epileptic encephalopathy, 36
p.Asp690= Multiple submitters developmental and epileptic encephalopathy, 36
p.Gln27Glu Multiple submitters developmental and epileptic encephalopathy, 36
p.Glu378= Multiple submitters developmental and epileptic encephalopathy, 36
p.Glu91= Multiple submitters developmental and epileptic encephalopathy, 36
p.Gly207Glu Multiple submitters developmental and epileptic encephalopathy, 36
p.Gly227= Multiple submitters developmental and epileptic encephalopathy, 36
p.Gly9= Multiple submitters developmental and epileptic encephalopathy, 36
p.His623= Multiple submitters developmental and epileptic encephalopathy, 36
p.His641Arg Multiple submitters developmental and epileptic encephalopathy, 36
p.Ile139= Multiple submitters developmental and epileptic encephalopathy, 36
p.Ile583Val Multiple submitters developmental and epileptic encephalopathy, 36
p.Leu130Pro Multiple submitters Inborn genetic diseases
p.Leu152= Multiple submitters developmental and epileptic encephalopathy, 36
p.Leu611Phe Multiple submitters developmental and epileptic encephalopathy, 36
p.Leu918= Multiple submitters developmental and epileptic encephalopathy, 36
p.Lys118= Multiple submitters developmental and epileptic encephalopathy, 36
p.Lys436= Multiple submitters developmental and epileptic encephalopathy, 36
p.Lys775Arg Multiple submitters developmental and epileptic encephalopathy, 36
p.Lys92Glu Multiple submitters Inborn genetic diseases
p.Met600Val Multiple submitters Inborn genetic diseases
p.Phe5Leu Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Pro1053= Multiple submitters developmental and epileptic encephalopathy, 36
p.Pro1080= Multiple submitters Inborn genetic diseases
p.Pro1127Ser Multiple submitters developmental and epileptic encephalopathy, 36
p.Pro196= Multiple submitters developmental and epileptic encephalopathy, 36
p.Pro574= Multiple submitters developmental and epileptic encephalopathy, 36
p.Pro612Ser Multiple submitters developmental and epileptic encephalopathy, 36
p.Pro649= Multiple submitters developmental and epileptic encephalopathy, 36
p.Pro921= Multiple submitters developmental and epileptic encephalopathy, 36
p.Pro922= Multiple submitters developmental and epileptic encephalopathy, 36
p.Pro923= Multiple submitters developmental and epileptic encephalopathy, 36
p.Pro925= Multiple submitters developmental and epileptic encephalopathy, 36
p.Pro926= Multiple submitters developmental and epileptic encephalopathy, 36
p.Pro927= Multiple submitters developmental and epileptic encephalopathy, 36
p.Pro928= Multiple submitters developmental and epileptic encephalopathy, 36
p.Pro929= Multiple submitters developmental and epileptic encephalopathy, 36
p.Pro930= Multiple submitters developmental and epileptic encephalopathy, 36
p.Pro931= Multiple submitters developmental and epileptic encephalopathy, 36
p.Pro934= Multiple submitters developmental and epileptic encephalopathy, 36
p.Pro935= Multiple submitters developmental and epileptic encephalopathy, 36
p.Pro937= Multiple submitters developmental and epileptic encephalopathy, 36
p.Pro964= Multiple submitters developmental and epileptic encephalopathy, 36
p.Ser1058= Multiple submitters developmental and epileptic encephalopathy, 36
p.Ser248= Multiple submitters developmental and epileptic encephalopathy, 36
p.Ser579= Multiple submitters developmental and epileptic encephalopathy, 36
p.Ser85= Multiple submitters developmental and epileptic encephalopathy, 36
p.Ser902Leu Multiple submitters developmental and epileptic encephalopathy, 36
p.Ser971= Multiple submitters developmental and epileptic encephalopathy, 36
p.Thr1028= Multiple submitters developmental and epileptic encephalopathy, 36
p.Thr181Ala Multiple submitters developmental and epileptic encephalopathy, 36
p.Thr45= Multiple submitters Inborn genetic diseases
p.Thr731Ala Multiple submitters developmental and epileptic encephalopathy, 36
p.Thr812= Multiple submitters developmental and epileptic encephalopathy, 36
p.Tyr1074Phe Multiple submitters developmental and epileptic encephalopathy, 36
p.Tyr268= Multiple submitters developmental and epileptic encephalopathy, 36
p.Tyr604= Multiple submitters developmental and epileptic encephalopathy, 36
p.Tyr694= Multiple submitters developmental and epileptic encephalopathy, 36
c.1005+10T>A Single submitter developmental and epileptic encephalopathy, 36
c.1005+13G>A Single submitter developmental and epileptic encephalopathy, 36
c.1005+14T>C Single submitter developmental and epileptic encephalopathy, 36
c.1005+15G>A Single submitter developmental and epileptic encephalopathy, 36
c.1005+7A>T Single submitter
c.1006-16G>A Single submitter developmental and epileptic encephalopathy, 36
c.1006-18C>G Single submitter developmental and epileptic encephalopathy, 36
c.1006-19T>A Single submitter developmental and epileptic encephalopathy, 36
c.1006-7T>C Single submitter developmental and epileptic encephalopathy, 36
c.1087+10G>A Single submitter developmental and epileptic encephalopathy, 36
c.1087+12C>T Single submitter developmental and epileptic encephalopathy, 36
c.1087+9A>C Single submitter developmental and epileptic encephalopathy, 36
c.1088-12T>A Single submitter developmental and epileptic encephalopathy, 36
c.1088-14C>T Single submitter developmental and epileptic encephalopathy, 36
c.1088-16A>T Single submitter developmental and epileptic encephalopathy, 36
c.1088-55A>G Single submitter
c.1250+14A>G Single submitter developmental and epileptic encephalopathy, 36
c.1251-18C>T Single submitter developmental and epileptic encephalopathy, 36
c.1251-4T>C Single submitter developmental and epileptic encephalopathy, 36
c.1326+12T>C Single submitter developmental and epileptic encephalopathy, 36
c.1326+14T>C Single submitter developmental and epileptic encephalopathy, 36
c.1326+15A>G Single submitter developmental and epileptic encephalopathy, 36
c.1326+22del Single submitter developmental and epileptic encephalopathy, 36
c.1327-14T>C Single submitter developmental and epileptic encephalopathy, 36
c.1435+11A>G Single submitter
c.1435+12T>C Single submitter developmental and epileptic encephalopathy, 36
c.1435+12T>G Single submitter developmental and epileptic encephalopathy, 36
c.1435+15A>G Single submitter developmental and epileptic encephalopathy, 36
c.1435+16C>G Single submitter developmental and epileptic encephalopathy, 36
c.1435+19G>C Single submitter developmental and epileptic encephalopathy, 36
c.1436-10C>G Single submitter developmental and epileptic encephalopathy, 36
c.1436-11dup Single submitter developmental and epileptic encephalopathy, 36
c.1436-15A>G Single submitter developmental and epileptic encephalopathy, 36
c.1436-19C>A Single submitter developmental and epileptic encephalopathy, 36
c.1436-5A>G Single submitter developmental and epileptic encephalopathy, 36
c.1436-8T>C Single submitter developmental and epileptic encephalopathy, 36
c.1500+12del Single submitter developmental and epileptic encephalopathy, 36
c.1500+13T>G Single submitter developmental and epileptic encephalopathy, 36
c.1500+15C>T Single submitter developmental and epileptic encephalopathy, 36
c.1501-12T>C Single submitter developmental and epileptic encephalopathy, 36
c.1501-16A>G Single submitter developmental and epileptic encephalopathy, 36
c.1501-18dup Single submitter developmental and epileptic encephalopathy, 36
c.1501-199_1501-198del Single submitter
c.1501-20T>C Single submitter developmental and epileptic encephalopathy, 36
c.1501-298G>A Single submitter
c.1501-4T>G Single submitter developmental and epileptic encephalopathy, 36
c.1601+14A>G Single submitter developmental and epileptic encephalopathy, 36
c.1601+17T>G Single submitter developmental and epileptic encephalopathy, 36
c.1601+18T>G Single submitter developmental and epileptic encephalopathy, 36
c.1601+9A>G Single submitter developmental and epileptic encephalopathy, 36
c.1602-15C>A Single submitter developmental and epileptic encephalopathy, 36
c.1729+15G>A Single submitter developmental and epileptic encephalopathy, 36
c.1729+8T>C Single submitter developmental and epileptic encephalopathy, 36
c.1730-20C>T Single submitter developmental and epileptic encephalopathy, 36
c.1730-7C>T Single submitter developmental and epileptic encephalopathy, 36
c.1730-9G>A Single submitter developmental and epileptic encephalopathy, 36
c.1976+11G>T Single submitter developmental and epileptic encephalopathy, 36
c.1976+14A>G Single submitter developmental and epileptic encephalopathy, 36
c.1976+16A>G Single submitter developmental and epileptic encephalopathy, 36
c.1976+20G>T Single submitter developmental and epileptic encephalopathy, 36
c.1976+7C>T Single submitter developmental and epileptic encephalopathy, 36
c.1976+8A>G Single submitter developmental and epileptic encephalopathy, 36
c.1977-17T>A Single submitter developmental and epileptic encephalopathy, 36
c.2090+10G>T Single submitter developmental and epileptic encephalopathy, 36
c.2090+15G>A Single submitter developmental and epileptic encephalopathy, 36
c.2090+20_2090+23del Single submitter developmental and epileptic encephalopathy, 36
c.2090+22_2090+39del Single submitter developmental and epileptic encephalopathy, 36
c.2090+9T>C Single submitter developmental and epileptic encephalopathy, 36
c.2091-15T>C Single submitter developmental and epileptic encephalopathy, 36
c.2091-17T>C Single submitter developmental and epileptic encephalopathy, 36
c.2091-17T>G Single submitter developmental and epileptic encephalopathy, 36
c.2091-18T>C Single submitter developmental and epileptic encephalopathy, 36
c.2091-4T>G Single submitter developmental and epileptic encephalopathy, 36
c.2091-7A>T Single submitter developmental and epileptic encephalopathy, 36
c.2247+13A>G Single submitter developmental and epileptic encephalopathy, 36
c.2247+16C>T Single submitter developmental and epileptic encephalopathy, 36
c.2247+20A>G Single submitter developmental and epileptic encephalopathy, 36
c.2248-13C>G Single submitter developmental and epileptic encephalopathy, 36
c.2248-19G>A Single submitter developmental and epileptic encephalopathy, 36
c.2248-25GT[7] Single submitter
c.2248-42A>G Single submitter
c.2248-7G>C Single submitter
c.2368+13_2368+14del Single submitter developmental and epileptic encephalopathy, 36
c.2368+15G>A Single submitter developmental and epileptic encephalopathy, 36
c.2368+20A>G Single submitter developmental and epileptic encephalopathy, 36
c.2368+7C>T Single submitter developmental and epileptic encephalopathy, 36
c.2369-12T>G Single submitter developmental and epileptic encephalopathy, 36
c.2369-13C>G Single submitter developmental and epileptic encephalopathy, 36
c.2369-15_2369-11del Single submitter developmental and epileptic encephalopathy, 36
c.2369-15G>A Single submitter developmental and epileptic encephalopathy, 36
c.2369-17T>C Single submitter developmental and epileptic encephalopathy, 36
c.2369-20G>A Single submitter developmental and epileptic encephalopathy, 36
c.2369-214dup Single submitter
c.2369-4_2369-3del Single submitter
c.2369-7dup Single submitter
c.2401+14A>G Single submitter developmental and epileptic encephalopathy, 36
c.2401+18G>T Single submitter developmental and epileptic encephalopathy, 36
c.2401+20G>C Single submitter developmental and epileptic encephalopathy, 36
c.2401+9G>A Single submitter developmental and epileptic encephalopathy, 36
c.2402-14G>T Single submitter developmental and epileptic encephalopathy, 36
c.2402-20A>G Single submitter developmental and epileptic encephalopathy, 36
c.2402-6C>T Single submitter developmental and epileptic encephalopathy, 36
c.244+12T>C Single submitter developmental and epileptic encephalopathy, 36
c.244+15G>C Single submitter developmental and epileptic encephalopathy, 36
c.244+20T>G Single submitter developmental and epileptic encephalopathy, 36
c.244+5_244+6insC Single submitter
c.244+7G>T Single submitter
c.245-10A>G Single submitter developmental and epileptic encephalopathy, 36
c.245-12T>A Single submitter developmental and epileptic encephalopathy, 36
c.245-12T>G Single submitter developmental and epileptic encephalopathy, 36
c.245-17T>C Single submitter developmental and epileptic encephalopathy, 36
c.245-20A>C Single submitter developmental and epileptic encephalopathy, 36
c.245-7T>C Single submitter developmental and epileptic encephalopathy, 36
c.245-8A>G Single submitter developmental and epileptic encephalopathy, 36
c.2457+13T>A Single submitter developmental and epileptic encephalopathy, 36
c.2457+16T>A Single submitter developmental and epileptic encephalopathy, 36
c.2457+18G>C Single submitter developmental and epileptic encephalopathy, 36
c.2458-10T>G Single submitter developmental and epileptic encephalopathy, 36
c.2458-18T>G Single submitter developmental and epileptic encephalopathy, 36
c.2458-4A>G Single submitter developmental and epileptic encephalopathy, 36
c.2529+11T>C Single submitter developmental and epileptic encephalopathy, 36
c.2529+12A>G Single submitter developmental and epileptic encephalopathy, 36
c.2529+12A>T Single submitter developmental and epileptic encephalopathy, 36
c.2529+275C>T Single submitter
c.2529+7C>T Single submitter developmental and epileptic encephalopathy, 36
c.2529+9C>T Single submitter developmental and epileptic encephalopathy, 36
c.2530-11C>T Single submitter developmental and epileptic encephalopathy, 36
c.2530-14_2530-10del Single submitter
c.2530-15C>T Single submitter developmental and epileptic encephalopathy, 36
c.2530-16T>C Single submitter developmental and epileptic encephalopathy, 36
c.2530-310G>T Single submitter
c.2695+10dup Single submitter developmental and epileptic encephalopathy, 36
c.2695+16A>C Single submitter developmental and epileptic encephalopathy, 36
c.2695+9T>C Single submitter developmental and epileptic encephalopathy, 36
c.2696-19T>C Single submitter developmental and epileptic encephalopathy, 36
c.2932+16_2932+30del Single submitter developmental and epileptic encephalopathy, 36
c.2932+16G>A Single submitter developmental and epileptic encephalopathy, 36
c.2932+178T>A Single submitter
c.2932+179C>A Single submitter
c.2932+19T>G Single submitter developmental and epileptic encephalopathy, 36
c.2932+22_2932+41del Single submitter developmental and epileptic encephalopathy, 36
c.2932+6_2932+7insC Single submitter developmental and epileptic encephalopathy, 36
c.2932+8G>T Single submitter developmental and epileptic encephalopathy, 36
c.2932+9_2932+10insCGCTTTTT Single submitter developmental and epileptic encephalopathy, 36
c.2933-15G>A Single submitter developmental and epileptic encephalopathy, 36
c.2933-15G>C Single submitter developmental and epileptic encephalopathy, 36
c.2933-214C>T Single submitter
c.2933-57A>G Single submitter
c.2973+10A>G Single submitter developmental and epileptic encephalopathy, 36
c.2973+9C>T Single submitter developmental and epileptic encephalopathy, 36
c.2974-10C>T Single submitter developmental and epileptic encephalopathy, 36
c.2974-17G>A Single submitter developmental and epileptic encephalopathy, 36
c.2974-17G>T Single submitter developmental and epileptic encephalopathy, 36
c.2974-20G>T Single submitter developmental and epileptic encephalopathy, 36
c.2974-41A>C Single submitter
c.2974-4C>T Single submitter developmental and epileptic encephalopathy, 36
c.2974-79del Single submitter
c.2974-79dup Single submitter
c.3148+7G>A Single submitter developmental and epileptic encephalopathy, 36
c.3148+7G>C Single submitter developmental and epileptic encephalopathy, 36
c.3149-11C>T Single submitter developmental and epileptic encephalopathy, 36
c.3149-14A>G Single submitter developmental and epileptic encephalopathy, 36
c.3149-16A>G Single submitter developmental and epileptic encephalopathy, 36
c.3149-18A>G Single submitter developmental and epileptic encephalopathy, 36
c.3149-19T>C Single submitter developmental and epileptic encephalopathy, 36
c.3149-9T>C Single submitter developmental and epileptic encephalopathy, 36
c.383+13C>A Single submitter developmental and epileptic encephalopathy, 36
c.383+14_383+15del Single submitter developmental and epileptic encephalopathy, 36
c.383+16A>G Single submitter developmental and epileptic encephalopathy, 36
c.383+16ATT[2] Single submitter developmental and epileptic encephalopathy, 36
c.383+17T>C Single submitter developmental and epileptic encephalopathy, 36
c.383+2509T>C Single submitter
c.383+2769C>A Single submitter
c.383+2810T>C Single submitter developmental and epileptic encephalopathy, 36
c.383+2892A>G Single submitter
c.384-10_384-8del Single submitter developmental and epileptic encephalopathy, 36
c.384-12T>G Single submitter developmental and epileptic encephalopathy, 36
c.384-15C>T Single submitter developmental and epileptic encephalopathy, 36
c.384-17T>C Single submitter developmental and epileptic encephalopathy, 36
c.384-8T>C Single submitter developmental and epileptic encephalopathy, 36
c.750+14A>G Single submitter developmental and epileptic encephalopathy, 36
c.750+16_750+17del Single submitter developmental and epileptic encephalopathy, 36
c.750+17T>C Single submitter developmental and epileptic encephalopathy, 36
c.751-11C>T Single submitter developmental and epileptic encephalopathy, 36
c.751-19G>T Single submitter developmental and epileptic encephalopathy, 36
c.751-6T>C Single submitter developmental and epileptic encephalopathy, 36
c.81+108C>T Single submitter
c.81+12A>G Single submitter developmental and epileptic encephalopathy, 36
c.81+13G>A Single submitter developmental and epileptic encephalopathy, 36
c.81+16G>A Single submitter developmental and epileptic encephalopathy, 36
c.81+18G>A Single submitter developmental and epileptic encephalopathy, 36
c.81+20A>C Single submitter developmental and epileptic encephalopathy, 36
c.81+7G>A Single submitter developmental and epileptic encephalopathy, 36
c.81+7G>T Single submitter developmental and epileptic encephalopathy, 36
c.81+9G>A Single submitter developmental and epileptic encephalopathy, 36
c.81+9G>T Single submitter developmental and epileptic encephalopathy, 36
c.82-18del Single submitter developmental and epileptic encephalopathy, 36
c.834+14A>T Single submitter developmental and epileptic encephalopathy, 36
c.834+20del Single submitter developmental and epileptic encephalopathy, 36
c.834+8G>C Single submitter developmental and epileptic encephalopathy, 36
c.835-15G>C Single submitter developmental and epileptic encephalopathy, 36
c.835-217A>G Single submitter
c.885+13A>G Single submitter developmental and epileptic encephalopathy, 36
c.885+14T>C Single submitter developmental and epileptic encephalopathy, 36
c.885+16G>A Single submitter developmental and epileptic encephalopathy, 36
c.886-12A>G Single submitter developmental and epileptic encephalopathy, 36
c.886-15A>G Single submitter developmental and epileptic encephalopathy, 36
c.886-16C>T Single submitter developmental and epileptic encephalopathy, 36
c.886-303C>G Single submitter
c.886-6G>A Single submitter developmental and epileptic encephalopathy, 36
c.886-7T>C Single submitter developmental and epileptic encephalopathy, 36
c.886-8A>T Single submitter developmental and epileptic encephalopathy, 36
c.932+13C>T Single submitter developmental and epileptic encephalopathy, 36
c.932+14T>C Single submitter developmental and epileptic encephalopathy, 36
c.932+16T>C Single submitter developmental and epileptic encephalopathy, 36

Uncertain significance 490

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

c.2458-1G>A Multiple submitters developmental and epileptic encephalopathy, 36
c.2695+4G>A Multiple submitters developmental and epileptic encephalopathy, 36
c.2932+6T>C Multiple submitters developmental and epileptic encephalopathy, 36
c.834+3A>G Multiple submitters developmental and epileptic encephalopathy, 36
c.932+2T>C Multiple submitters developmental and epileptic encephalopathy, 36
p.Ala1044Thr Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Ala173Val Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Ala191Thr Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Ala22Thr Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Ala540Val Multiple submitters Inborn genetic diseases ⚠
p.Ala800Ser Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Arg290Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg318Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg318Gly Multiple submitters developmental and epileptic encephalopathy, 36
p.Arg704Cys Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Arg791Gln Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Asn218Asp Multiple submitters Inborn genetic diseases ⚠
p.Asn511Ser Multiple submitters ALG13-related disorder ⚠
p.Asn555Ser Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Asn858Asp Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Asp1091His Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Asp334Gly Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Asp948Asn Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Cys125Gly Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Cys855Tyr Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Gln1006Arg Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Gln273Pro Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Gln492Glu Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Gln492His Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Gln822Arg Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Gln832Pro Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Gln842Arg Multiple submitters SUDDEN INFANT DEATH SYNDROME ⚠
p.Glu119Gln Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Glu271Gly Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Glu951Asp Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Gly1113Val Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Gly299Asp Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Gly344Asp Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Gly422Val Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Gly570Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly763Ala Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Gly896Ser Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.His1099Gln Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.His1112Leu Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.His190Tyr Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.His628Arg Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.His771Arg Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Ile1042Val Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Ile336Val Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Ile385Met Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Ile911Val Multiple submitters developmental and epileptic encephalopathy ⚠
p.Leu778Phe Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Leu947Phe Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Leu96Phe Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Lys335Gln Multiple submitters ALG13-related disorder ⚠
p.Lys674Asn Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Lys68Thr Multiple submitters Inborn genetic diseases ⚠
p.Lys843= Multiple submitters developmental and epileptic encephalopathy, 36
p.Phe284Leu Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Phe314Leu Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Pro1087Leu Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Pro180Leu Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Pro320Ala Multiple submitters developmental and epileptic encephalopathy, 36
p.Pro613Arg Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Pro649Leu Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Pro746Leu Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Pro919Leu Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Pro919Thr Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Pro920Thr Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Pro923Leu Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Pro943_Ala946del Multiple submitters developmental and epileptic encephalopathy, 36
p.Pro943Ala Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Pro944_Ala946del Multiple submitters developmental and epileptic encephalopathy
p.Pro95Leu Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Ser25Asn Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Ser297Cys Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Ser31Asn Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Ser55Leu Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Ser638Ala Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Ser66Tyr Multiple submitters Inborn genetic diseases ⚠
p.Ser693Phe Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Ser702Arg Multiple submitters Inborn genetic diseases ⚠
p.Ser826Thr Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Ser865Phe Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Ser865Pro Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Ser875Asn Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Ser880Tyr Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Thr153_Ser154insTer Multiple submitters developmental and epileptic encephalopathy, 36
p.Thr181Ser Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Thr761Ile Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Thr813Ala Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Thr894Ala Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Trp554Leu Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Tyr1066Cys Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Tyr326Cys Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Tyr565Cys Multiple submitters ALG13-related disorder ⚠
p.Tyr678_Gly680delinsCys Multiple submitters developmental and epileptic encephalopathy, 36
p.Tyr689Cys Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Tyr715Phe Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Tyr764Cys Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Tyr798His Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Tyr840Cys Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Val1101Leu Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Val548Ala Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Val879Leu Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
p.Val890Leu Multiple submitters developmental and epileptic encephalopathy, 36 ⚠
c.1088-6C>A Single submitter
c.1326+3T>A Single submitter developmental and epileptic encephalopathy, 36
c.1436-3T>C Single submitter developmental and epileptic encephalopathy, 36
c.1501-5T>C Single submitter developmental and epileptic encephalopathy, 36
c.1729+5G>A Single submitter developmental and epileptic encephalopathy, 36
c.1730-1G>A Single submitter
c.1730-3A>T Single submitter developmental and epileptic encephalopathy, 36
c.2090+3A>G Single submitter developmental and epileptic encephalopathy, 36
c.2402-3T>C Single submitter developmental and epileptic encephalopathy, 36
c.245-4G>T Single submitter Inborn genetic diseases
c.2458-12_2458-10del Single submitter developmental and epileptic encephalopathy, 36
c.2458-15_2486del Single submitter developmental and epileptic encephalopathy, 36
c.2458-34_2458dup Single submitter
c.2529+3A>G Single submitter developmental and epileptic encephalopathy, 36
c.2529+5T>C Single submitter developmental and epileptic encephalopathy, 36
c.2932+4A>G Single submitter
c.2974-5T>C Single submitter
c.383+2794G>A Single submitter
c.383+2854A>C Single submitter
c.383+2885G>A Single submitter developmental and epileptic encephalopathy, 36
c.750+6del Single submitter developmental and epileptic encephalopathy, 36
c.933-3T>C Single submitter developmental and epileptic encephalopathy, 36
c.933-8C>T Single submitter
c.-1C>T Single submitter Inborn genetic diseases
p.Ala1064Thr Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Ala1124Thr Single submitter Inborn genetic diseases ⚠
p.Ala1129Pro Single submitter ⚠
p.Ala113Thr Single submitter ⚠
p.Ala140Thr Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Ala142Thr Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Ala18dup Single submitter developmental and epileptic encephalopathy, 36
p.Ala22Glu Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Ala246Val Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Ala540Gly Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Ala633Val Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Ala814Thr Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Ala81Thr Single submitter microcephaly ⚠
p.Ala861Val Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Ala884dup Single submitter developmental and epileptic encephalopathy, 36
p.Ala884Val Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Ala901Gly Single submitter ⚠
p.Arg1038del Single submitter developmental and epileptic encephalopathy, 36
p.Arg1038Ile Single submitter ⚠
p.Arg128= Single submitter
p.Arg128Gly Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Arg290Trp Single submitter ⚠
p.Arg304Ser Single submitter ⚠
p.Arg312Gln Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Arg312Leu Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Arg318His Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Arg36Ter Single submitter
p.Arg43Lys Single submitter ⚠
p.Arg466His Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Arg594Gln Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Arg594Gly Single submitter developmental and epileptic encephalopathy, 36
p.Arg614Thr Single submitter developmental and epileptic encephalopathy, 36
p.Arg653Gln Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Arg663Gln Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Arg663Trp Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Arg697Cys Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Arg697His Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Arg704His Single submitter ⚠
p.Arg799His Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Asn1049Ser Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Asn107Lys Single submitter ⚠
p.Asn1116Ser Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Asn210His Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Asn218Lys Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Asn218Ser Single submitter ⚠
p.Asn311Asp Single submitter ⚠
p.Asn330Ser Single submitter ⚠
p.Asn416Asp Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Asn435Lys Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Asn521Ser Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Asn522Ser Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Asn669del Single submitter developmental and epileptic encephalopathy, 36
p.Asn710His Single submitter ⚠
p.Asn779Lys Single submitter ⚠
p.Asn784Lys Single submitter ⚠
p.Asn784Ser Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Asn784Thr Single submitter Inborn genetic diseases ⚠
p.Asn789Lys Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Asn818Ile Single submitter developmental and epileptic encephalopathy, 36
p.Asn839Ser Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Asn857Tyr Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Asn871Asp Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Asp1026Gly Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Asp1040Gly Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Asp14Asn Single submitter developmental and epileptic encephalopathy, 36
p.Asp15Asn Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Asp15Tyr Single submitter developmental and epileptic encephalopathy, 36
p.Asp239Gly Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Asp24Gly Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Asp372Asn Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Asp409His Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Asp484Gly Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Asp497Glu Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Asp624Asn Single submitter ⚠
p.Asp65Asn Single submitter Inborn genetic diseases ⚠
p.Asp676Ala Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Asp676Tyr Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Asp741Gly Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Cys1032Tyr Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Cys1094Phe Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Cys1094Tyr Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Cys253Tyr Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Cys685Ser Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Cys765Arg Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Cys827Arg Single submitter ⚠
p.Cys827Ser Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Cys86Ser Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Gln1008Glu Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Gln1009Glu Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Gln1135= Single submitter developmental and epileptic encephalopathy, 36
p.Gln115Arg Single submitter Inborn genetic diseases ⚠
p.Gln135Glu Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Gln147Arg Single submitter ⚠
p.Gln27= Single submitter developmental and epileptic encephalopathy, 36
p.Gln300His Single submitter ⚠
p.Gln353Arg Single submitter ⚠
p.Gln547His Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Gln547Pro Single submitter ⚠
p.Gln566Pro Single submitter ⚠
p.Gln705Arg Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Gln714His Single submitter ⚠
p.Gln832Arg Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Gln832Glu Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Gln882Arg Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Glu102Lys Single submitter
p.Glu102Val Single submitter ⚠
p.Glu1035Asp Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Glu1039Asp Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Glu296Gly Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Glu30Gln Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Glu439Asp Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Glu440Lys Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Glu445Gly Single submitter ⚠
p.Glu506Asp Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Glu533fs Single submitter
p.Glu54Asp Single submitter Inborn genetic diseases ⚠
p.Glu736Lys Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Glu795Val Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Glu801Gly Single submitter ⚠
p.Gly1081Asp Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Gly1081Ser Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Gly1113Ser Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Gly1136Cys Single submitter Inborn genetic diseases ⚠
p.Gly120Asp Single submitter developmental and epileptic encephalopathy, 36
p.Gly120Ser Single submitter developmental and epileptic encephalopathy, 36
p.Gly144Arg Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Gly159_Leu160del Single submitter developmental and epileptic encephalopathy, 36
p.Gly227Asp Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Gly33Ala Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Gly422Ala Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Gly422Ser Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Gly42Ser Single submitter ⚠
p.Gly437Ala Single submitter Inborn genetic diseases ⚠
p.Gly437Glu Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Gly507Glu Single submitter ⚠
p.Gly562Ala Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Gly564Asp Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Gly564Val Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Gly571Asp Single submitter ⚠
p.Gly571Cys Single submitter ⚠
p.Gly607Glu Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Gly634Arg Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Gly654Arg Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Gly753Arg Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Gly846Arg Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Gly896Asp Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Gly972Val Single submitter congenital disorder of glycosylation ⚠
p.His1012Pro Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.His1062Tyr Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.His1131Tyr Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.His121Tyr Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.His190Gln Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.His257Arg Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.His345Gln Single submitter ⚠
p.His535Tyr Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.His751Leu Single submitter ⚠
p.His771Tyr Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.His80Gln Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.His995Asn Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.His999Tyr Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Ile100Val Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Ile247Val Single submitter ⚠
p.Ile385Ser Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Ile38Met Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Ile38Thr Single submitter ⚠
p.Ile430Met Single submitter ⚠
p.Ile732Val Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Ile848Thr Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Leu104Phe Single submitter developmental and epileptic encephalopathy, 36 ⚠
p.Leu130Val Single submitter developmental and epileptic encephalopathy, 36 ⚠