SIK1 — 1064 ClinVar variants

All ClinVar germline SIK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 460 flagged for review →

4 Pathogenic · 4 Likely pathogenic · 57 Conflicting · 36 Benign · 43 Benign/Likely benign · 427 Likely benign · 493 Uncertain significance

Full SIK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 460

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

Predictors vs ClinVar 2

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

SIK1 p.Gly636Ser Pathogenic No assertion criteria
developmental and epileptic encephalopathy, 30
SIK1 p.Pro287Thr Pathogenic No assertion criteria
developmental and epileptic encephalopathy, 30

Predictors agree, ClinVar conflicts 47

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

SIK1 p.Ala288Ser Conflicting Single submitter
Inborn genetic diseases
SIK1 p.Ala486Val Conflicting Single submitter
Inborn genetic diseases
SIK1 p.Ala513Val Conflicting Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Ala532Ser Conflicting Single submitter
Inborn genetic diseases
SIK1 p.Ala548Thr Conflicting Single submitter
Inborn genetic diseases
SIK1 p.Ala615Thr Conflicting Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Ala617Thr Conflicting Single submitter
Inborn genetic diseases
SIK1 p.Ala641Ser Conflicting Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Ala641Thr Conflicting Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Ala682Val Conflicting Single submitter
Inborn genetic diseases
SIK1 p.Ala718Thr Conflicting Single submitter
Inborn genetic diseases
SIK1 p.Arg127Trp Conflicting Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Arg279Gln Conflicting Single submitter
Inborn genetic diseases
SIK1 p.Arg279Gly Conflicting Single submitter
Inborn genetic diseases
SIK1 p.Arg365Gln Conflicting Single submitter
Inborn genetic diseases
SIK1 p.Arg430Gln Conflicting Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Arg432Trp Conflicting Single submitter
Inborn genetic diseases
SIK1 p.Arg480Cys Conflicting Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Arg480His Conflicting Single submitter
Inborn genetic diseases
SIK1 p.Arg595Gln Conflicting Single submitter
Inborn genetic diseases
SIK1 p.Arg645Gln Conflicting Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Arg748His Conflicting Single submitter
Inborn genetic diseases
SIK1 p.Asp303Asn Conflicting Single submitter
Inborn genetic diseases
SIK1 p.Cys488Tyr Conflicting Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Gln352Arg Conflicting Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Gln611Arg Conflicting Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Gln614His Conflicting Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Gln678His Conflicting Single submitter
Inborn genetic diseases
SIK1 p.Gly427Arg Conflicting Single submitter
Inborn genetic diseases
SIK1 p.Gly639Ser Conflicting Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Gly640Ser Conflicting Single submitter
Inborn genetic diseases
SIK1 p.Gly643Ser Conflicting Single submitter
Inborn genetic diseases
SIK1 p.Gly737Ser Conflicting Single submitter
Inborn genetic diseases
SIK1 p.Ile734Thr Conflicting Single submitter
Inborn genetic diseases
SIK1 p.Leu564Pro Conflicting Single submitter
Inborn genetic diseases
SIK1 p.Pro356Ser Conflicting Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Pro383Ala Conflicting Single submitter
Inborn genetic diseases
SIK1 p.Pro452Leu Conflicting Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Pro696Ser Conflicting Single submitter
Inborn genetic diseases
SIK1 p.Pro720Leu Conflicting Single submitter
Inborn genetic diseases
SIK1 p.Pro742Leu Conflicting Single submitter
Inborn genetic diseases
SIK1 p.Ser412Leu Conflicting Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Ser540Leu Conflicting Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Ser545Leu Conflicting Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Thr231Ala Conflicting Single submitter
Inborn genetic diseases
SIK1 p.Thr231Met Conflicting Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Thr468Met Conflicting Single submitter
developmental and epileptic encephalopathy, 30

Predictors lean, ClinVar uncertain 359

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 359

SIK1 p.Ala475Gly Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Ala486Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Ala513Gly Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Ala518Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SIK1 p.Ala680Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Arg257Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SIK1 p.Arg273Gln Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Arg319Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SIK1 p.Arg349Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SIK1 p.Arg355Cys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Arg385Gln Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Arg432Gln Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Arg610Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SIK1 p.Arg619Trp Uncertain significance Multiple submitters
Inborn genetic diseases
SIK1 p.Arg748Cys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Arg748Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Asp10Tyr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Asp64Asn Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Cys407Arg Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Cys488Phe Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Cys689Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Gln678Pro Uncertain significance Multiple submitters
Inborn genetic diseases
SIK1 p.Glu404Lys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Glu656Gln Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Gly502Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SIK1 p.Gly557Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SIK1 p.Gly640Cys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Gly705Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SIK1 p.Ile101Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Leu237Pro Uncertain significance Multiple submitters
Inborn genetic diseases
SIK1 p.Leu369Phe Uncertain significance Multiple submitters
Inborn genetic diseases
SIK1 p.Leu440Gln Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Leu484Phe Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Leu663Phe Uncertain significance Multiple submitters
Inborn genetic diseases
SIK1 p.Leu702Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SIK1 p.Leu706His Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Leu709Pro Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Met111Val Uncertain significance Multiple submitters
Inborn genetic diseases
SIK1 p.Phe684Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Pro179Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SIK1 p.Pro188Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SIK1 p.Pro230Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Pro362Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Pro420Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SIK1 p.Pro483Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SIK1 p.Pro493Arg Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Pro493Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SIK1 p.Pro535Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Pro631Arg Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Pro635Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SIK1 p.Pro635Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SIK1 p.Pro667Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Pro671Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SIK1 p.Pro671Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Pro707Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Ser122Asn Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Ser135Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SIK1 p.Ser463Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SIK1 p.Ser634Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SIK1 p.Ser644Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SIK1 p.Thr268Asn Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Thr593Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SIK1 p.Thr594Met Uncertain significance Multiple submitters
Inborn genetic diseases
SIK1 p.Val194Ile Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Val323Met Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Val477Gly Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Val75Phe Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Ala191Val Uncertain significance Single submitter
SIK1 p.Ala264Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Ala288Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Ala291Pro Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Ala291Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Ala308Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Ala351Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Ala359Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Ala359Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Ala387Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Ala387Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Ala403Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Ala448Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Ala486Ser Uncertain significance Single submitter
Inborn genetic diseases
SIK1 p.Ala513Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Ala532Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Ala548Asp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Ala554Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Ala561Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Ala585Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Ala617Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Ala630Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Ala641Glu Uncertain significance Single submitter
Inborn genetic diseases
SIK1 p.Ala641Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Ala676Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Ala687Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Ala687Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Ala687Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Ala695Pro Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Ala695Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Ala718Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Ala722Asp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Ala725Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Ala750Val Uncertain significance Single submitter
Inborn genetic diseases
SIK1 p.Ala753Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Ala753Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Ala9Thr Uncertain significance Single submitter
SIK1 p.Arg148Pro Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Arg257His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Arg266Cys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Arg360Gly Uncertain significance Single submitter
Inborn genetic diseases
SIK1 p.Arg360Trp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Arg449Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Arg449Trp Uncertain significance Single submitter
SIK1 p.Arg480Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Arg610His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Arg622Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Arg62Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Arg645Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Arg645Trp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Asn124Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Asn124Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Asn154Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Asn37Lys Uncertain significance Single submitter
SIK1 p.Asn37Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Asn67Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Asp142Asn Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Asp149Asn Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Asp225Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Asp225His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Asp303Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Asp305Asn Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Asp382His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Asp406Asn Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Asp406Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Asp459Asn Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Asp765Asn Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Asp765Tyr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Cys251Trp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Cys283Trp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Cys289Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Cys353Arg Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Cys390Arg Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Cys613Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Cys774Arg Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Cys774Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Gln14His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Gln16Arg Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Gln16Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Gln249Arg Uncertain significance Single submitter
Inborn genetic diseases
SIK1 p.Gln271Glu Uncertain significance Single submitter
Inborn genetic diseases
SIK1 p.Gln392Arg Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Gln398Arg Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30

Predictors split 52

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

SIK1 p.Arg233Lys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Arg319Trp Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Arg470Trp Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Leu600Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SIK1 p.Leu63Phe Uncertain significance Multiple submitters
Inborn genetic diseases
SIK1 p.Lys129Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Met278Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SIK1 p.Thr473Asn Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Thr580Ile Likely benign Multiple submitters
Inborn genetic diseases
SIK1 p.Val260Ala Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 30
SIK1 p.Ala574Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Arg127Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Arg256Cys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Arg256His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Arg265Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Arg273Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Arg273Trp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Arg276Trp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Arg31Gly Likely benign Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Arg344Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Arg349Trp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Arg363Gln Conflicting Single submitter
Inborn genetic diseases
SIK1 p.Arg363Trp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Arg365Trp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Arg45Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Arg47Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Arg587Trp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Asn118Ile Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Asp113Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Asp305Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Asp305His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Asp576Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Gln313Arg Conflicting Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Glu30Gln Conflicting Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Glu570Asp Uncertain significance Single submitter
Inborn genetic diseases
SIK1 p.Gly582Glu Uncertain significance Single submitter
Inborn genetic diseases
SIK1 p.Gly601Arg Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Gly607Glu Uncertain significance Single submitter
Inborn genetic diseases
SIK1 p.Ile267Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Ile86Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Leu583Pro Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Leu602Pro Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Lys96Asn Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Met312Leu Uncertain significance Single submitter
SIK1 p.Phe26Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Ser366Asn Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Ser492Phe Likely benign Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Ser504Arg Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Val194Leu Uncertain significance Single submitter
SIK1 p.Val216Ala Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Val216Ile Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30
SIK1 p.Val24Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 30

All SIK1 variants

Pathogenic 4

p.Gln614Ter No assertion criteria developmental and epileptic encephalopathy, 30
p.Glu347Ter No assertion criteria developmental and epileptic encephalopathy, 30
p.Gly636Ser No assertion criteria developmental and epileptic encephalopathy, 30 ⚠
p.Pro287Thr No assertion criteria developmental and epileptic encephalopathy, 30 ⚠

Likely pathogenic 4

p.Arg385Ter Single submitter Global developmental delay
p.Cys613Ter Single submitter developmental and epileptic encephalopathy, 30
p.Gln458fs Single submitter developmental and epileptic encephalopathy, 30
p.Phe384fs Single submitter

Conflicting classifications of pathogenicity 57

c.1463-5C>A Single submitter developmental and epileptic encephalopathy, 30
c.1463-5C>T Single submitter developmental and epileptic encephalopathy, 30
p.Ala288Ser Single submitter Inborn genetic diseases ⚠
p.Ala486Val Single submitter Inborn genetic diseases ⚠
p.Ala513Val Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Ala532Ser Single submitter Inborn genetic diseases ⚠
p.Ala548Thr Single submitter Inborn genetic diseases ⚠
p.Ala615Thr Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Ala617Thr Single submitter Inborn genetic diseases ⚠
p.Ala641Ser Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Ala641Thr Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Ala682Val Single submitter Inborn genetic diseases ⚠
p.Ala718Thr Single submitter Inborn genetic diseases ⚠
p.Arg127Trp Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Arg279Gln Single submitter Inborn genetic diseases ⚠
p.Arg279Gly Single submitter Inborn genetic diseases ⚠
p.Arg363Gln Single submitter Inborn genetic diseases ⚠
p.Arg365Gln Single submitter Inborn genetic diseases ⚠
p.Arg430Gln Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Arg432Trp Single submitter Inborn genetic diseases ⚠
p.Arg480Cys Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Arg480His Single submitter Inborn genetic diseases ⚠
p.Arg595Gln Single submitter Inborn genetic diseases ⚠
p.Arg595Trp Single submitter Inborn genetic diseases
p.Arg645Gln Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Arg748His Single submitter Inborn genetic diseases ⚠
p.Asp303Asn Single submitter Inborn genetic diseases ⚠
p.Cys488Tyr Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gln313Arg Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gln352Arg Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gln611Arg Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gln614His Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gln633Ter Single submitter developmental and epileptic encephalopathy, 30
p.Gln678His Single submitter Inborn genetic diseases ⚠
p.Glu30Gln Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gly427Arg Single submitter Inborn genetic diseases ⚠
p.Gly598Ala Single submitter developmental and epileptic encephalopathy, 30
p.Gly639Ser Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gly640Ser Single submitter Inborn genetic diseases ⚠
p.Gly643Ser Single submitter Inborn genetic diseases ⚠
p.Gly737Ser Single submitter Inborn genetic diseases ⚠
p.Ile734Thr Single submitter Inborn genetic diseases ⚠
p.Leu156= Single submitter developmental and epileptic encephalopathy, 30
p.Leu180fs Single submitter developmental and epileptic encephalopathy, 30
p.Leu564Pro Single submitter Inborn genetic diseases ⚠
p.Pro356Ser Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Pro383Ala Single submitter Inborn genetic diseases ⚠
p.Pro452Leu Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Pro696Ser Single submitter Inborn genetic diseases ⚠
p.Pro720Leu Single submitter Inborn genetic diseases ⚠
p.Pro742Leu Single submitter Inborn genetic diseases ⚠
p.Ser412Leu Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Ser540Leu Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Ser545Leu Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Thr231Ala Single submitter Inborn genetic diseases ⚠
p.Thr231Met Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Thr468Met Single submitter developmental and epileptic encephalopathy, 30 ⚠

Benign 36

c.1246-36T>C Multiple submitters developmental and epileptic encephalopathy, 30
c.1463-18G>A Multiple submitters developmental and epileptic encephalopathy, 30
c.1463-3C>T Multiple submitters Inborn genetic diseases
c.156+15T>C Multiple submitters developmental and epileptic encephalopathy, 30
c.274-28G>A Multiple submitters developmental and epileptic encephalopathy, 30
c.337+35C>G Multiple submitters developmental and epileptic encephalopathy, 30
c.625-23T>C Multiple submitters developmental and epileptic encephalopathy, 30
c.625-39A>G Multiple submitters developmental and epileptic encephalopathy, 30
c.748+17C>T Multiple submitters developmental and epileptic encephalopathy, 30
c.749-45C>G Multiple submitters developmental and epileptic encephalopathy, 30
c.749-49G>A Multiple submitters developmental and epileptic encephalopathy, 30
p.Ala518= Multiple submitters developmental and epileptic encephalopathy, 30
p.Ala743Thr Multiple submitters developmental and epileptic encephalopathy, 30
p.Gly15Ser Multiple submitters Inborn genetic diseases
p.Gly302= Multiple submitters Inborn genetic diseases
p.Gly310= Multiple submitters Inborn genetic diseases
p.Pro616= Multiple submitters Inborn genetic diseases
p.Thr485= Multiple submitters developmental and epileptic encephalopathy, 30
c.1119+85T>C Single submitter
c.1463-5del Single submitter developmental and epileptic encephalopathy, 30
c.1463-5dup Single submitter developmental and epileptic encephalopathy, 30
c.156+11dup Single submitter developmental and epileptic encephalopathy, 30
c.156+18G>C Single submitter developmental and epileptic encephalopathy, 30
c.1976+15del Single submitter developmental and epileptic encephalopathy, 30
c.1977-85T>A Single submitter
c.273+8G>T Single submitter developmental and epileptic encephalopathy, 30
c.499+56T>C Single submitter developmental and epileptic encephalopathy, 30
c.624+17C>T Single submitter developmental and epileptic encephalopathy, 30
p.Ala354Thr Single submitter developmental and epileptic encephalopathy, 30
p.Ala740Thr Single submitter developmental and epileptic encephalopathy, 30
p.Glu377Lys Single submitter developmental and epileptic encephalopathy, 30
p.Gly672Ser Single submitter developmental and epileptic encephalopathy, 30
p.Leu741Arg Single submitter developmental and epileptic encephalopathy, 30
p.Leu81= Single submitter developmental and epileptic encephalopathy, 30
p.Ser426= Single submitter developmental and epileptic encephalopathy, 30
p.Thr703Met Single submitter developmental and epileptic encephalopathy, 30

Benign/Likely benign 43

c.1119+7G>A Multiple submitters developmental and epileptic encephalopathy, 30
c.1462+11C>T Multiple submitters developmental and epileptic encephalopathy, 30
c.1463-7C>T Multiple submitters developmental and epileptic encephalopathy, 30
c.1744+10G>A Multiple submitters developmental and epileptic encephalopathy, 30
c.274-3del Multiple submitters Inborn genetic diseases
c.500-21_500-18del Multiple submitters developmental and epileptic encephalopathy, 30
c.624+15C>T Multiple submitters developmental and epileptic encephalopathy, 30
p.Ala264Thr Multiple submitters Inborn genetic diseases
p.Ala291Thr Multiple submitters Inborn genetic diseases
p.Ala359= Multiple submitters Inborn genetic diseases
p.Ala497Ser Multiple submitters Inborn genetic diseases
p.Ala518Val Multiple submitters Inborn genetic diseases
p.Ala642= Multiple submitters Inborn genetic diseases
p.Ala669Thr Multiple submitters developmental and epileptic encephalopathy, 30
p.Ala687Thr Multiple submitters developmental and epileptic encephalopathy, 30
p.Ala725Val Multiple submitters developmental and epileptic encephalopathy, 30
p.Arg355His Multiple submitters Inborn genetic diseases
p.Arg430Trp Multiple submitters Inborn genetic diseases
p.Asp10= Multiple submitters developmental and epileptic encephalopathy, 30
p.Gln313His Multiple submitters developmental and epileptic encephalopathy, 30
p.Glu457Ala Multiple submitters developmental and epileptic encephalopathy, 30
p.Glu462= Multiple submitters developmental and epileptic encephalopathy, 30
p.Gly691Asp Multiple submitters Inborn genetic diseases
p.Gly735Asp Multiple submitters developmental and epileptic encephalopathy, 30
p.Leu520= Multiple submitters developmental and epileptic encephalopathy, 30
p.Leu714= Multiple submitters Inborn genetic diseases
p.Lys151= Multiple submitters developmental and epileptic encephalopathy, 30
p.Met405Ile Multiple submitters Inborn genetic diseases
p.Phe292Tyr Multiple submitters Inborn genetic diseases
p.Pro285Leu Multiple submitters developmental and epileptic encephalopathy, 30
p.Pro287del Multiple submitters developmental and epileptic encephalopathy, 30
p.Pro358Ala Multiple submitters Inborn genetic diseases
p.Pro696Leu Multiple submitters Inborn genetic diseases
p.Thr182= Multiple submitters Inborn genetic diseases
p.Thr322= Multiple submitters developmental and epileptic encephalopathy, 30
p.Thr460Met Multiple submitters developmental and epileptic encephalopathy, 30
p.Thr496= Multiple submitters Inborn genetic diseases
p.Thr594= Multiple submitters developmental and epileptic encephalopathy, 30
p.Val2Ile Multiple submitters developmental and epileptic encephalopathy, 30
p.Val317= Multiple submitters Inborn genetic diseases
p.Val434Leu Multiple submitters Inborn genetic diseases
p.Val490= Multiple submitters developmental and epileptic encephalopathy, 30
p.Val491Leu Multiple submitters developmental and epileptic encephalopathy, 30

Likely benign 427

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

c.1119+11G>A Multiple submitters developmental and epileptic encephalopathy, 30
c.1119+14G>A Multiple submitters developmental and epileptic encephalopathy, 30
c.1120-15G>A Multiple submitters developmental and epileptic encephalopathy, 30
c.1120-16C>T Multiple submitters developmental and epileptic encephalopathy, 30
c.1245+15C>T Multiple submitters developmental and epileptic encephalopathy, 30
c.1245+16G>A Multiple submitters developmental and epileptic encephalopathy, 30
c.1246-4G>A Multiple submitters developmental and epileptic encephalopathy, 30
c.1246-5C>T Multiple submitters Inborn genetic diseases
c.1462+18C>T Multiple submitters developmental and epileptic encephalopathy, 30
c.1463-15G>A Multiple submitters developmental and epileptic encephalopathy, 30
c.1463-5C>G Multiple submitters developmental and epileptic encephalopathy, 30
c.1463-6C>A Multiple submitters developmental and epileptic encephalopathy, 30
c.1744+9C>T Multiple submitters developmental and epileptic encephalopathy, 30
c.1745-20C>T Multiple submitters developmental and epileptic encephalopathy, 30
c.1976+15C>G Multiple submitters developmental and epileptic encephalopathy, 30
c.1976+15C>T Multiple submitters developmental and epileptic encephalopathy, 30
c.1976+19C>T Multiple submitters developmental and epileptic encephalopathy, 30
c.1977-14C>T Multiple submitters developmental and epileptic encephalopathy, 30
c.273+15T>C Multiple submitters developmental and epileptic encephalopathy, 30
c.337+12T>A Multiple submitters developmental and epileptic encephalopathy, 30
c.499+10_499+11delinsCC Multiple submitters developmental and epileptic encephalopathy, 30
c.499+14G>A Multiple submitters developmental and epileptic encephalopathy, 30
c.748+17C>G Multiple submitters developmental and epileptic encephalopathy, 30
c.748+7C>T Multiple submitters developmental and epileptic encephalopathy, 30
c.749-11C>T Multiple submitters developmental and epileptic encephalopathy, 30
p.Ala136= Multiple submitters developmental and epileptic encephalopathy, 30
p.Ala294Thr Multiple submitters Inborn genetic diseases
p.Ala294Val Multiple submitters Inborn genetic diseases
p.Ala403= Multiple submitters Inborn genetic diseases
p.Ala475= Multiple submitters developmental and epileptic encephalopathy, 30
p.Ala486= Multiple submitters developmental and epileptic encephalopathy, 30
p.Ala518Pro Multiple submitters developmental and epileptic encephalopathy, 30
p.Ala532Thr Multiple submitters Inborn genetic diseases
p.Ala668= Multiple submitters developmental and epileptic encephalopathy, 30
p.Ala718= Multiple submitters Inborn genetic diseases
p.Ala722= Multiple submitters Inborn genetic diseases
p.Ala725= Multiple submitters Inborn genetic diseases
p.Ala753Ser Multiple submitters Inborn genetic diseases
p.Arg619= Multiple submitters developmental and epileptic encephalopathy, 30
p.Arg619Gln Multiple submitters Inborn genetic diseases
p.Asn118= Multiple submitters developmental and epileptic encephalopathy, 30
p.Asp506= Multiple submitters Inborn genetic diseases
p.Cys283= Multiple submitters developmental and epileptic encephalopathy, 30
p.Cys353= Multiple submitters developmental and epileptic encephalopathy, 30
p.Cys774Gly Multiple submitters developmental and epileptic encephalopathy, 30
p.Glu69= Multiple submitters developmental and epileptic encephalopathy, 30
p.Gly197= Multiple submitters developmental and epileptic encephalopathy, 30
p.Gly211= Multiple submitters Inborn genetic diseases
p.His141= Multiple submitters developmental and epileptic encephalopathy, 30
p.Ile145= Multiple submitters developmental and epileptic encephalopathy, 30
p.Ile29= Multiple submitters Inborn genetic diseases
p.Ile686= Multiple submitters developmental and epileptic encephalopathy, 30
p.Ile734= Multiple submitters developmental and epileptic encephalopathy, 30
p.Leu115= Multiple submitters Inborn genetic diseases
p.Leu379= Multiple submitters Inborn genetic diseases
p.Leu543Pro Multiple submitters Inborn genetic diseases
p.Leu625= Multiple submitters developmental and epileptic encephalopathy, 30
p.Leu637= Multiple submitters developmental and epileptic encephalopathy, 30
p.Leu68= Multiple submitters developmental and epileptic encephalopathy, 30
p.Leu697= Multiple submitters developmental and epileptic encephalopathy, 30
p.Leu709= Multiple submitters Inborn genetic diseases
p.Leu713= Multiple submitters developmental and epileptic encephalopathy, 30
p.Leu728= Multiple submitters Inborn genetic diseases
p.Phe224= Multiple submitters developmental and epileptic encephalopathy, 30
p.Phe38= Multiple submitters developmental and epileptic encephalopathy, 30
p.Pro230= Multiple submitters Inborn genetic diseases
p.Pro356= Multiple submitters developmental and epileptic encephalopathy, 30
p.Pro391Leu Multiple submitters Inborn genetic diseases
p.Pro393= Multiple submitters Inborn genetic diseases
p.Pro420= Multiple submitters developmental and epileptic encephalopathy, 30
p.Pro420Leu Multiple submitters developmental and epileptic encephalopathy, 30
p.Pro433= Multiple submitters developmental and epileptic encephalopathy, 30
p.Pro452= Multiple submitters Inborn genetic diseases
p.Pro465= Multiple submitters Inborn genetic diseases
p.Pro493= Multiple submitters developmental and epileptic encephalopathy, 30
p.Pro517= Multiple submitters developmental and epileptic encephalopathy, 30
p.Pro541= Multiple submitters developmental and epileptic encephalopathy, 30
p.Pro683Leu Multiple submitters Inborn genetic diseases
p.Pro696= Multiple submitters developmental and epileptic encephalopathy, 30
p.Pro707= Multiple submitters Inborn genetic diseases
p.Pro742= Multiple submitters developmental and epileptic encephalopathy, 30
p.Ser135= Multiple submitters developmental and epileptic encephalopathy, 30
p.Ser367= Multiple submitters Inborn genetic diseases
p.Ser367Leu Multiple submitters Inborn genetic diseases
p.Ser399= Multiple submitters developmental and epileptic encephalopathy, 30
p.Ser540= Multiple submitters developmental and epileptic encephalopathy, 30
p.Ser545= Multiple submitters developmental and epileptic encephalopathy, 30
p.Ser547= Multiple submitters developmental and epileptic encephalopathy, 30
p.Thr152= Multiple submitters developmental and epileptic encephalopathy, 30
p.Thr460= Multiple submitters developmental and epileptic encephalopathy, 30
p.Thr468= Multiple submitters developmental and epileptic encephalopathy, 30
p.Thr510= Multiple submitters developmental and epileptic encephalopathy, 30
p.Thr580Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr739= Multiple submitters Inborn genetic diseases
p.Tyr100= Multiple submitters developmental and epileptic encephalopathy, 30
p.Tyr215= Multiple submitters developmental and epileptic encephalopathy, 30
p.Tyr304= Multiple submitters developmental and epileptic encephalopathy, 30
p.Tyr331= Multiple submitters developmental and epileptic encephalopathy, 30
p.Val102= Multiple submitters Inborn genetic diseases
p.Val400Phe Multiple submitters developmental and epileptic encephalopathy, 30
p.Val434Met Multiple submitters developmental and epileptic encephalopathy, 30
c.1119+13A>C Single submitter developmental and epileptic encephalopathy, 30
c.1119+19C>T Single submitter developmental and epileptic encephalopathy, 30
c.1119+20T>A Single submitter developmental and epileptic encephalopathy, 30
c.1119+5_1119+6dup Single submitter developmental and epileptic encephalopathy, 30
c.1120-4C>G Single submitter developmental and epileptic encephalopathy, 30
c.1120-8G>A Single submitter developmental and epileptic encephalopathy, 30
c.1120-9C>T Single submitter developmental and epileptic encephalopathy, 30
c.1245+16G>T Single submitter developmental and epileptic encephalopathy, 30
c.1245+18G>T Single submitter developmental and epileptic encephalopathy, 30
c.1245+19T>A Single submitter developmental and epileptic encephalopathy, 30
c.1245+20G>A Single submitter developmental and epileptic encephalopathy, 30
c.1246-10T>G Single submitter developmental and epileptic encephalopathy, 30
c.1246-15G>A Single submitter developmental and epileptic encephalopathy, 30
c.1246-17G>C Single submitter developmental and epileptic encephalopathy, 30
c.1246-17G>T Single submitter developmental and epileptic encephalopathy, 30
c.1246-7A>G Single submitter developmental and epileptic encephalopathy, 30
c.1246-9C>G Single submitter developmental and epileptic encephalopathy, 30
c.1462+12C>G Single submitter developmental and epileptic encephalopathy, 30
c.1462+12C>T Single submitter developmental and epileptic encephalopathy, 30
c.1462+13G>A Single submitter developmental and epileptic encephalopathy, 30
c.1462+19C>T Single submitter developmental and epileptic encephalopathy, 30
c.1462+20C>G Single submitter developmental and epileptic encephalopathy, 30
c.1462+9C>A Single submitter developmental and epileptic encephalopathy, 30
c.1463-10C>A Single submitter developmental and epileptic encephalopathy, 30
c.1463-10C>T Single submitter developmental and epileptic encephalopathy, 30
c.1463-15G>C Single submitter developmental and epileptic encephalopathy, 30
c.1463-19C>T Single submitter developmental and epileptic encephalopathy, 30
c.1463-27_1463-19dup Single submitter developmental and epileptic encephalopathy, 30
c.1463-6C>G Single submitter developmental and epileptic encephalopathy, 30
c.1463-6C>T Single submitter developmental and epileptic encephalopathy, 30
c.1463-7C>G Single submitter developmental and epileptic encephalopathy, 30
c.1463-8C>T Single submitter developmental and epileptic encephalopathy, 30
c.156+10G>A Single submitter developmental and epileptic encephalopathy, 30
c.156+13G>A Single submitter developmental and epileptic encephalopathy, 30
c.156+20C>T Single submitter developmental and epileptic encephalopathy, 30
c.156+7G>A Single submitter developmental and epileptic encephalopathy, 30
c.157-10A>G Single submitter developmental and epileptic encephalopathy, 30
c.157-20T>A Single submitter developmental and epileptic encephalopathy, 30
c.157-5del Single submitter developmental and epileptic encephalopathy, 30
c.157-9_157-8dup Single submitter developmental and epileptic encephalopathy, 30
c.1744+10G>C Single submitter developmental and epileptic encephalopathy, 30
c.1744+13C>T Single submitter developmental and epileptic encephalopathy, 30
c.1744+7C>G Single submitter developmental and epileptic encephalopathy, 30
c.1745-6C>T Single submitter developmental and epileptic encephalopathy, 30
c.1976+11C>T Single submitter developmental and epileptic encephalopathy, 30
c.1976+12C>G Single submitter developmental and epileptic encephalopathy, 30
c.1976+13C>T Single submitter developmental and epileptic encephalopathy, 30
c.1976+15C>A Single submitter developmental and epileptic encephalopathy, 30
c.1976+16G>A Single submitter developmental and epileptic encephalopathy, 30
c.1976+16G>C Single submitter
c.1976+17C>T Single submitter developmental and epileptic encephalopathy, 30
c.1976+6dup Single submitter developmental and epileptic encephalopathy, 30
c.1976+8C>T Single submitter developmental and epileptic encephalopathy, 30
c.1977-13T>C Single submitter developmental and epileptic encephalopathy, 30
c.1977-14del Single submitter developmental and epileptic encephalopathy, 30
c.1977-15C>G Single submitter developmental and epileptic encephalopathy, 30
c.1977-16T>G Single submitter developmental and epileptic encephalopathy, 30
c.1977-7C>G Single submitter developmental and epileptic encephalopathy, 30
c.273+13C>T Single submitter developmental and epileptic encephalopathy, 30
c.273+15T>G Single submitter developmental and epileptic encephalopathy, 30
c.273+16G>A Single submitter developmental and epileptic encephalopathy, 30
c.273+7G>A Single submitter developmental and epileptic encephalopathy, 30
c.273+8G>A Single submitter developmental and epileptic encephalopathy, 30
c.274-11T>G Single submitter developmental and epileptic encephalopathy, 30
c.274-18C>T Single submitter developmental and epileptic encephalopathy, 30
c.274-5T>C Single submitter developmental and epileptic encephalopathy, 30
c.274-6C>A Single submitter developmental and epileptic encephalopathy, 30
c.337+10A>G Single submitter developmental and epileptic encephalopathy, 30
c.337+11C>T Single submitter developmental and epileptic encephalopathy, 30
c.337+13C>A Single submitter developmental and epileptic encephalopathy, 30
c.337+17T>C Single submitter developmental and epileptic encephalopathy, 30
c.337+19C>T Single submitter developmental and epileptic encephalopathy, 30
c.337+20A>G Single submitter developmental and epileptic encephalopathy, 30
c.337+7C>T Single submitter developmental and epileptic encephalopathy, 30
c.338-13T>G Single submitter developmental and epileptic encephalopathy, 30
c.338-14T>C Single submitter developmental and epileptic encephalopathy, 30
c.338-15T>C Single submitter developmental and epileptic encephalopathy, 30
c.338-18T>C Single submitter developmental and epileptic encephalopathy, 30
c.338-25_338-20del Single submitter developmental and epileptic encephalopathy, 30
c.338-5_338-3del Single submitter developmental and epileptic encephalopathy, 30
c.338-9G>T Single submitter developmental and epileptic encephalopathy, 30
c.499+13_499+55del Single submitter developmental and epileptic encephalopathy, 30
c.499+13C>T Single submitter developmental and epileptic encephalopathy, 30
c.499+16G>A Single submitter developmental and epileptic encephalopathy, 30
c.499+17G>A Single submitter developmental and epileptic encephalopathy, 30
c.499+9G>T Single submitter developmental and epileptic encephalopathy, 30
c.500-17G>A Single submitter
c.500-18T>G Single submitter developmental and epileptic encephalopathy, 30
c.500-19C>T Single submitter developmental and epileptic encephalopathy, 30
c.500-6G>A Single submitter developmental and epileptic encephalopathy, 30
c.500-6G>T Single submitter developmental and epileptic encephalopathy, 30
c.500-7C>T Single submitter developmental and epileptic encephalopathy, 30
c.624+12G>A Single submitter developmental and epileptic encephalopathy, 30
c.624+13T>C Single submitter developmental and epileptic encephalopathy, 30
c.624+14G>A Single submitter developmental and epileptic encephalopathy, 30
c.624+18G>A Single submitter developmental and epileptic encephalopathy, 30
c.624+19C>G Single submitter developmental and epileptic encephalopathy, 30
c.624+20A>G Single submitter developmental and epileptic encephalopathy, 30
c.625-12G>C Single submitter developmental and epileptic encephalopathy, 30
c.625-16C>T Single submitter
c.625-5A>G Single submitter developmental and epileptic encephalopathy, 30
c.625-6C>T Single submitter developmental and epileptic encephalopathy, 30
c.625-9C>T Single submitter developmental and epileptic encephalopathy, 30
c.748+16T>C Single submitter developmental and epileptic encephalopathy, 30
c.748+18G>A Single submitter developmental and epileptic encephalopathy, 30
c.748+20del Single submitter developmental and epileptic encephalopathy, 30
c.748+8G>A Single submitter developmental and epileptic encephalopathy, 30
c.748+9T>A Single submitter developmental and epileptic encephalopathy, 30
c.749-11C>A Single submitter developmental and epileptic encephalopathy, 30
c.749-4A>C Single submitter developmental and epileptic encephalopathy, 30
c.972+10G>A Single submitter developmental and epileptic encephalopathy, 30
c.972+12C>T Single submitter developmental and epileptic encephalopathy, 30
c.972+13_972+27del Single submitter developmental and epileptic encephalopathy, 30
c.972+14C>T Single submitter developmental and epileptic encephalopathy, 30
c.972+15A>G Single submitter developmental and epileptic encephalopathy, 30
c.973-13C>T Single submitter developmental and epileptic encephalopathy, 30
c.973-14C>T Single submitter developmental and epileptic encephalopathy, 30
c.973-16C>T Single submitter developmental and epileptic encephalopathy, 30
c.973-19C>T Single submitter developmental and epileptic encephalopathy, 30
c.973-5C>G Single submitter developmental and epileptic encephalopathy, 30
c.*7C>T Single submitter
p.Ala12= Single submitter developmental and epileptic encephalopathy, 30
p.Ala126= Single submitter developmental and epileptic encephalopathy, 30
p.Ala126Val Single submitter developmental and epileptic encephalopathy, 30
p.Ala190= Single submitter developmental and epileptic encephalopathy, 30
p.Ala191= Single submitter developmental and epileptic encephalopathy, 30
p.Ala270Thr Single submitter developmental and epileptic encephalopathy, 30
p.Ala280= Single submitter developmental and epileptic encephalopathy, 30
p.Ala291= Single submitter developmental and epileptic encephalopathy, 30
p.Ala308= Single submitter developmental and epileptic encephalopathy, 30
p.Ala39= Single submitter developmental and epileptic encephalopathy, 30
p.Ala423= Single submitter developmental and epileptic encephalopathy, 30
p.Ala475Val Single submitter developmental and epileptic encephalopathy, 30
p.Ala513= Single submitter developmental and epileptic encephalopathy, 30
p.Ala518Thr Single submitter developmental and epileptic encephalopathy, 30
p.Ala574= Single submitter developmental and epileptic encephalopathy, 30
p.Ala615= Single submitter developmental and epileptic encephalopathy, 30
p.Ala620= Single submitter developmental and epileptic encephalopathy, 30
p.Ala641= Single submitter developmental and epileptic encephalopathy, 30
p.Ala724= Single submitter developmental and epileptic encephalopathy, 30
p.Ala740= Single submitter developmental and epileptic encephalopathy, 30
p.Ala750= Single submitter developmental and epileptic encephalopathy, 30
p.Ala753= Single submitter
p.Ala9= Single submitter developmental and epileptic encephalopathy, 30
p.Arg127= Single submitter developmental and epileptic encephalopathy, 30
p.Arg235= Single submitter developmental and epileptic encephalopathy, 30
p.Arg240= Single submitter developmental and epileptic encephalopathy, 30
p.Arg266= Single submitter developmental and epileptic encephalopathy, 30
p.Arg31Gly Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Arg363= Single submitter developmental and epileptic encephalopathy, 30
p.Arg365= Single submitter developmental and epileptic encephalopathy, 30
p.Arg385= Single submitter developmental and epileptic encephalopathy, 30
p.Arg470= Single submitter developmental and epileptic encephalopathy, 30
p.Arg471= Single submitter developmental and epileptic encephalopathy, 30
p.Arg587= Single submitter developmental and epileptic encephalopathy, 30
p.Arg610= Single submitter developmental and epileptic encephalopathy, 30
p.Asn124= Single submitter developmental and epileptic encephalopathy, 30
p.Asn300= Single submitter developmental and epileptic encephalopathy, 30
p.Asn328= Single submitter developmental and epileptic encephalopathy, 30
p.Asn350= Single submitter developmental and epileptic encephalopathy, 30
p.Asp142His Single submitter developmental and epileptic encephalopathy, 30
p.Asp167= Single submitter developmental and epileptic encephalopathy, 30
p.Asp250Glu Single submitter developmental and epileptic encephalopathy, 30
p.Asp382Asn Single submitter developmental and epileptic encephalopathy, 30
p.Asp770= Single submitter developmental and epileptic encephalopathy, 30
p.Cys184= Single submitter developmental and epileptic encephalopathy, 30
p.Cys219= Single submitter developmental and epileptic encephalopathy, 30
p.Cys425= Single submitter developmental and epileptic encephalopathy, 30
p.Cys488Gly Single submitter developmental and epileptic encephalopathy, 30
p.Cys774= Single submitter developmental and epileptic encephalopathy, 30
p.Gln132= Single submitter developmental and epileptic encephalopathy, 30
p.Gln19= Single submitter developmental and epileptic encephalopathy, 30
p.Gln234= Single submitter developmental and epileptic encephalopathy, 30
p.Gln307= Single submitter developmental and epileptic encephalopathy, 30
p.Gln410= Single submitter developmental and epileptic encephalopathy, 30
p.Gln461= Single submitter developmental and epileptic encephalopathy, 30
p.Gln527= Single submitter developmental and epileptic encephalopathy, 30
p.Gln664= Single submitter developmental and epileptic encephalopathy, 30
p.Glu178= Single submitter developmental and epileptic encephalopathy, 30
p.Glu30= Single submitter developmental and epileptic encephalopathy, 30
p.Glu446= Single submitter developmental and epileptic encephalopathy, 30
p.Glu456= Single submitter developmental and epileptic encephalopathy, 30
p.Glu457= Single submitter developmental and epileptic encephalopathy, 30
p.Glu570= Single submitter
p.Glu653= Single submitter developmental and epileptic encephalopathy, 30
p.Glu769Lys Single submitter developmental and epileptic encephalopathy, 30
p.Glu94= Single submitter developmental and epileptic encephalopathy, 30
p.Gly119= Single submitter developmental and epileptic encephalopathy, 30
p.Gly17= Single submitter developmental and epileptic encephalopathy, 30
p.Gly171= Single submitter developmental and epileptic encephalopathy, 30
p.Gly202= Single submitter developmental and epileptic encephalopathy, 30
p.Gly316= Single submitter developmental and epileptic encephalopathy, 30
p.Gly357Arg Single submitter developmental and epileptic encephalopathy, 30
p.Gly451= Single submitter developmental and epileptic encephalopathy, 30
p.Gly469= Single submitter
p.Gly528= Single submitter
p.Gly528Arg Single submitter developmental and epileptic encephalopathy, 30
p.Gly531= Single submitter developmental and epileptic encephalopathy, 30
p.Gly556= Single submitter developmental and epileptic encephalopathy, 30

Uncertain significance 493

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

c.273+4A>T Multiple submitters developmental and epileptic encephalopathy, 30
p.Ala475Gly Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
p.Ala486Thr Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
p.Ala513Gly Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
p.Ala518Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala615fs Multiple submitters developmental and epileptic encephalopathy, 30
p.Ala680Thr Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
p.Arg233Lys Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
p.Arg257Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg273Gln Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
p.Arg319Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg319Trp Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
p.Arg349Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg355Cys Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
p.Arg385Gln Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
p.Arg432Gln Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
p.Arg470Trp Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
p.Arg610Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg610Pro Multiple submitters developmental and epileptic encephalopathy, 30
p.Arg619Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg748Cys Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
p.Arg748Leu Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
p.Asp10Tyr Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
p.Asp225Asn Multiple submitters developmental and epileptic encephalopathy, 30
p.Asp64Asn Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
p.Cys407Arg Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
p.Cys488Phe Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
p.Cys689Ser Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
p.Gln678Pro Multiple submitters Inborn genetic diseases ⚠
p.Glu404Lys Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
p.Glu656Gln Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
p.Gly502Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly557Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly640Cys Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
p.Gly705Glu Multiple submitters Inborn genetic diseases ⚠
p.His472Leu Multiple submitters Inborn genetic diseases
p.Ile101Val Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
p.Leu237Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu369Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu440Gln Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
p.Leu484Phe Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
p.Leu600Gln Multiple submitters Inborn genetic diseases ⚠
p.Leu63Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu663Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu702Ile Multiple submitters Inborn genetic diseases ⚠
p.Leu706His Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
p.Leu709Pro Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
p.Lys129Thr Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
p.Met111Val Multiple submitters Inborn genetic diseases ⚠
p.Met278Thr Multiple submitters Inborn genetic diseases ⚠
p.Phe511del Multiple submitters developmental and epileptic encephalopathy, 30
p.Phe684Leu Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
p.Pro179Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro188Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro230Thr Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
p.Pro362Leu Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
p.Pro420Gln Multiple submitters Inborn genetic diseases ⚠
p.Pro483Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro493Arg Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
p.Pro493Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro535Leu Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
p.Pro631Arg Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
p.Pro635Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro635Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro667Leu Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
p.Pro671Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro671Ser Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
p.Pro707Leu Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
p.Ser122Asn Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
p.Ser135Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser463Cys Multiple submitters Inborn genetic diseases ⚠
p.Ser634Arg Multiple submitters Inborn genetic diseases ⚠
p.Ser644Arg Multiple submitters Inborn genetic diseases ⚠
p.Thr268Asn Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
p.Thr473Asn Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
p.Thr593Ser Multiple submitters Inborn genetic diseases ⚠
p.Thr594Met Multiple submitters Inborn genetic diseases ⚠
p.Val194Ile Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
p.Val260Ala Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
p.Val323Met Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
p.Val477Gly Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
p.Val75Phe Multiple submitters developmental and epileptic encephalopathy, 30 ⚠
c.1119+3G>A Single submitter developmental and epileptic encephalopathy, 30
c.1119+5G>A Single submitter developmental and epileptic encephalopathy, 30
c.1119+5G>C Single submitter developmental and epileptic encephalopathy, 30
c.1119+6G>A Single submitter developmental and epileptic encephalopathy, 30
c.1119+6G>C Single submitter developmental and epileptic encephalopathy, 30
c.1120-5C>A Single submitter Inborn genetic diseases
c.1462+4A>G Single submitter developmental and epileptic encephalopathy, 30
c.1462+6T>C Single submitter developmental and epileptic encephalopathy, 30
c.1463-11T>G Single submitter developmental and epileptic encephalopathy, 30
c.156+5G>T Single submitter developmental and epileptic encephalopathy, 30
c.1745-2A>G Single submitter developmental and epileptic encephalopathy, 30
c.1976+3A>G Single submitter developmental and epileptic encephalopathy, 30
c.1976+5G>T Single submitter developmental and epileptic encephalopathy, 30
c.273+4A>C Single submitter developmental and epileptic encephalopathy, 30
c.273+6G>C Single submitter developmental and epileptic encephalopathy, 30
c.274-3T>A Single submitter developmental and epileptic encephalopathy, 30
c.337+1G>A Single submitter developmental and epileptic encephalopathy, 30
c.499+4C>G Single submitter developmental and epileptic encephalopathy, 30
c.499+4C>T Single submitter developmental and epileptic encephalopathy, 30
c.499+4del Single submitter developmental and epileptic encephalopathy, 30
c.500-2A>G Single submitter developmental and epileptic encephalopathy, 30
c.500-3C>G Single submitter
c.624+3A>G Single submitter developmental and epileptic encephalopathy, 30
c.624+5G>C Single submitter developmental and epileptic encephalopathy, 30
c.624+6A>G Single submitter developmental and epileptic encephalopathy, 30
c.624+9C>T Single submitter developmental and epileptic encephalopathy, 30
c.749-22_749-14del Single submitter developmental and epileptic encephalopathy, 30
c.749-7T>A Single submitter developmental and epileptic encephalopathy, 30
c.-15+5_-15+13del Single submitter
c.-2C>T Single submitter
p.Ala126Ser Single submitter developmental and epileptic encephalopathy, 30
p.Ala191Val Single submitter ⚠
p.Ala264Ser Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Ala288Thr Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Ala291Pro Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Ala291Ser Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Ala308Val Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Ala351Ser Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Ala359Gly Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Ala359Thr Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Ala387Thr Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Ala387Val Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Ala403Gly Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Ala448Thr Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Ala486fs Single submitter developmental and epileptic encephalopathy, 30
p.Ala486Ser Single submitter Inborn genetic diseases ⚠
p.Ala513Glu Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Ala532Val Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Ala548Asp Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Ala554Val Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Ala561Val Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Ala574Val Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Ala585Ter Single submitter developmental and epileptic encephalopathy, 30
p.Ala585Val Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Ala615Val Single submitter developmental and epileptic encephalopathy, 30
p.Ala617Val Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Ala630Thr Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Ala641Glu Single submitter Inborn genetic diseases ⚠
p.Ala641Val Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Ala670fs Single submitter developmental and epileptic encephalopathy, 30
p.Ala676Thr Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Ala687Gly Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Ala687Ser Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Ala687Val Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Ala695Pro Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Ala695Val Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Ala718Val Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Ala722Asp Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Ala725del Single submitter developmental and epileptic encephalopathy, 30
p.Ala725fs Single submitter developmental and epileptic encephalopathy, 30
p.Ala725Thr Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Ala750Val Single submitter Inborn genetic diseases ⚠
p.Ala753Gly Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Ala753Val Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Ala9Thr Single submitter ⚠
p.Arg127Gln Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Arg148Pro Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Arg240Cys Single submitter Inborn genetic diseases
p.Arg256Cys Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Arg256His Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Arg257His Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Arg265Gly Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Arg266Cys Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Arg273Gly Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Arg273Trp Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Arg276Trp Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Arg344Gln Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Arg349Trp Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Arg360Gly Single submitter Inborn genetic diseases ⚠
p.Arg360Trp Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Arg363Trp Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Arg365fs Single submitter developmental and epileptic encephalopathy, 30
p.Arg365Trp Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Arg449Gly Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Arg449Trp Single submitter ⚠
p.Arg45Gln Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Arg471Lys Single submitter Inborn genetic diseases
p.Arg47Leu Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Arg480Leu Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Arg587Trp Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Arg610His Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Arg610Leu Single submitter developmental and epileptic encephalopathy, 30
p.Arg622Gly Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Arg62Leu Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Arg62Ter Single submitter developmental and epileptic encephalopathy, 30
p.Arg645Leu Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Arg645Trp Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Asn118Ile Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Asn124_Glu125insAsp Single submitter developmental and epileptic encephalopathy, 30
p.Asn124Lys Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Asn124Ser Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Asn154Lys Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Asn37Lys Single submitter ⚠
p.Asn37Ser Single submitter Inborn genetic diseases
p.Asn37Thr Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Asn67Ser Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Asp113Glu Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Asp142Asn Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Asp149Asn Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Asp225Gly Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Asp225His Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Asp250Asn Single submitter developmental and epileptic encephalopathy, 30
p.Asp303Val Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Asp305Asn Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Asp305Gly Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Asp305His Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Asp318Ala Single submitter developmental and epileptic encephalopathy, 30
p.Asp382His Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Asp406Asn Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Asp406Glu Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Asp459_Gln461delinsAlaTer Single submitter developmental and epileptic encephalopathy, 30
p.Asp459Asn Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Asp506Ter Single submitter developmental and epileptic encephalopathy, 30
p.Asp576Glu Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Asp765Asn Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Asp765Tyr Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Cys251_Glu252delinsTer Single submitter
p.Cys251Trp Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Cys283Trp Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Cys289Ser Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Cys353Arg Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Cys390Arg Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Cys613Ser Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Cys774Arg Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Cys774Ser Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gln14His Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gln16Arg Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gln16Glu Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gln234Ter Single submitter developmental and epileptic encephalopathy, 30
p.Gln249Arg Single submitter Inborn genetic diseases ⚠
p.Gln271Glu Single submitter Inborn genetic diseases ⚠
p.Gln392Arg Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gln398Arg Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gln402Pro Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gln410Pro Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gln458Arg Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gln527Arg Single submitter ⚠
p.Gln527fs Single submitter developmental and epileptic encephalopathy, 30
p.Gln527Pro Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gln553Pro Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gln555Lys Single submitter Inborn genetic diseases ⚠
p.Gln611His Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gln633Arg Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gln657Glu Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gln658Ter Single submitter developmental and epileptic encephalopathy, 30
p.Gln664Arg Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gln664Ter Single submitter developmental and epileptic encephalopathy, 30
p.Glu123Asp Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Glu123Val Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Glu178Asp Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Glu281Asp Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Glu343Gly Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Glu447Asp Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Glu476Lys Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Glu570Asp Single submitter Inborn genetic diseases ⚠
p.Glu646Lys Single submitter ⚠
p.Glu656Gly Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Glu69Asp Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Glu69fs Single submitter developmental and epileptic encephalopathy, 30
p.Gly109Val Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gly13Asp Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gly13Ser Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gly15Cys Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gly171Glu Single submitter ⚠
p.Gly17Asp Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gly17Cys Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gly220Ser Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gly25Ser Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gly25Val Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gly286Ala Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gly286Val Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gly378Val Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gly427Ala Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gly451Trp Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gly556Arg Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gly556Glu Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gly556Trp Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gly557Val Single submitter ⚠
p.Gly560Glu Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gly582Glu Single submitter Inborn genetic diseases ⚠
p.Gly601Arg Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gly607Glu Single submitter Inborn genetic diseases ⚠
p.Gly623Ser Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gly624Cys Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gly624Ser Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gly624Val Single submitter developmental and epileptic encephalopathy, 30
p.Gly639Arg Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gly647Ser Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gly672Arg Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gly717Ser Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gly755Arg Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gly760Glu Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.Gly764Arg Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.His141fs Single submitter
p.His143Arg Single submitter ⚠
p.His46Asp Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.His629Gln Single submitter developmental and epileptic encephalopathy, 30 ⚠
p.His629Tyr Single submitter developmental and epileptic encephalopathy, 30 ⚠