FOXG1 — 850 ClinVar variants
All ClinVar germline FOXG1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 254 flagged for review →
139 Pathogenic · 27 Pathogenic/Likely pathogenic · 80 Likely pathogenic · 27 Conflicting · 60 Benign · 13 Benign/Likely benign · 224 Likely benign · 280 Uncertain significance
Full FOXG1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 254
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 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
FOXG1 p.Ala35Val
Likely pathogenic
Single submitter
FOXG1 disorder
Predictors agree, ClinVar conflicts 13
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
FOXG1 p.Ala81Thr
Conflicting
Single submitter
FOXG1 disorder
-
FOXG1 p.Arg195Pro
Conflicting
Single submitter
FOXG1 disorder
-
FOXG1 p.Asn232Tyr
Conflicting
Single submitter
Rett syndrome
-
FOXG1 p.Asp94Ala
Conflicting
Single submitter
Inborn genetic diseases
-
FOXG1 p.Asp96Ala
Conflicting
Single submitter
FOXG1 disorder
-
FOXG1 p.Gln446Leu
Conflicting
Single submitter
Inborn genetic diseases
-
FOXG1 p.Gly268Val
Conflicting
Single submitter
FOXG1 disorder
-
FOXG1 p.Gly361Ser
Conflicting
Single submitter
Inborn genetic diseases
-
FOXG1 p.Met426Ile
Conflicting
Single submitter
Inborn genetic diseases
-
FOXG1 p.Pro74Leu
Conflicting
Single submitter
Inborn genetic diseases
-
FOXG1 p.Ser185Gly
Conflicting
Single submitter
FOXG1 disorder
-
FOXG1 p.Thr464Ala
Conflicting
Single submitter
FOXG1 disorder
-
FOXG1 p.Val10Met
Conflicting
Single submitter
FOXG1 disorder
Predictors lean, ClinVar uncertain 156
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 156
-
FOXG1 p.Ala159Thr
Uncertain significance
Expert panel
FOXG1 disorder
-
FOXG1 p.Asn227Lys
Uncertain significance
Expert panel
FOXG1 disorder
-
FOXG1 p.Asn32Ser
Uncertain significance
Expert panel
FOXG1 disorder
-
FOXG1 p.Glu144Lys
Uncertain significance
Expert panel
FOXG1 disorder
-
FOXG1 p.Gly168Val
Uncertain significance
Expert panel
FOXG1 disorder
-
FOXG1 p.His318Leu
Uncertain significance
Expert panel
FOXG1 disorder
-
FOXG1 p.Ala151Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOXG1 p.Ala303Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOXG1 p.Ala35Thr
Uncertain significance
Multiple submitters
FOXG1 disorder
-
FOXG1 p.Ala90Val
Uncertain significance
Multiple submitters
FOXG1 disorder
-
FOXG1 p.Ala93Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOXG1 p.Asn227Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOXG1 p.Gly148Val
Uncertain significance
Multiple submitters
FOXG1 disorder
-
FOXG1 p.Gly153Val
Uncertain significance
Multiple submitters
FOXG1 disorder
-
FOXG1 p.Gly169Ala
Uncertain significance
Multiple submitters
FOXG1 disorder
-
FOXG1 p.Gly169Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOXG1 p.Lys147Arg
Uncertain significance
Multiple submitters
FOXG1 disorder
-
FOXG1 p.Pro419Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOXG1 p.Pro91Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOXG1 p.Pro91Thr
Uncertain significance
Multiple submitters
FOXG1 disorder
-
FOXG1 p.Thr87Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOXG1 p.Ala113Thr
Uncertain significance
Single submitter
FOXG1 disorder
- FOXG1 p.Ala114Thr Uncertain significance Single submitter
-
FOXG1 p.Ala115Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- FOXG1 p.Ala119Ser Uncertain significance Single submitter
-
FOXG1 p.Ala121Pro
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Ala138Thr
Uncertain significance
Single submitter
FOXG1 disorder
- FOXG1 p.Ala138Val Uncertain significance Single submitter
-
FOXG1 p.Ala149Ser
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Ala159Val
Uncertain significance
Single submitter
Inborn genetic diseases
- FOXG1 p.Ala282Ser Uncertain significance Single submitter
-
FOXG1 p.Ala333Val
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Ala439Val
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Ala90Thr
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Arg201Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXG1 p.Arg219Gly
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Arg275Pro
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Arg276Cys
Uncertain significance
Single submitter
FOXG1 disorder
- FOXG1 p.Arg276His Uncertain significance Single submitter
-
FOXG1 p.Asn176Ser
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Asn227Asp
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Asn236Ile
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Asn348Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXG1 p.Asn403Ser
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Asn408Ser
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Asp117Gly
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Asp143Glu
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Asp258Tyr
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Asp94Asn
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Asp95Asn
Uncertain significance
Single submitter
FOXG1 disorder
- FOXG1 p.Gln100Leu Uncertain significance Single submitter
- FOXG1 p.Gln223Arg Uncertain significance Single submitter
-
FOXG1 p.Gln226Pro
Uncertain significance
Single submitter
autism spectrum disorder
-
FOXG1 p.Gln29Glu
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Gln446Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXG1 p.Gln46His
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXG1 p.Gln480Pro
Uncertain significance
Single submitter
FOXG1 disorder
- FOXG1 p.Gln72His Uncertain significance Single submitter
-
FOXG1 p.Gln73His
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Glu146Ala
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Glu167Asp
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Gly118Arg
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Gly125Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXG1 p.Gly131Ala
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Gly131Val
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Gly132Ser
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Gly133Arg
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Gly133Glu
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Gly135Val
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Gly141Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXG1 p.Gly141Val
Uncertain significance
Single submitter
FOXG1 disorder
- FOXG1 p.Gly152Glu Uncertain significance Single submitter
-
FOXG1 p.Gly152Val
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Gly153Arg
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Gly162Ser
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Gly163Ser
Uncertain significance
Single submitter
FOXG1-related disorder
-
FOXG1 p.Gly166Ala
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Gly166Arg
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Gly177Ala
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Gly177Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXG1 p.Gly206Cys
Uncertain significance
Single submitter
FOXG1 disorder
- FOXG1 p.Gly206Val Uncertain significance Single submitter
-
FOXG1 p.Gly271Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- FOXG1 p.Gly398Ala Uncertain significance Single submitter
-
FOXG1 p.Gly466Ala
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Gly98Ser
Uncertain significance
Single submitter
FOXG1 disorder
- FOXG1 p.His39Gln Uncertain significance Single submitter
-
FOXG1 p.His40Arg
Uncertain significance
Single submitter
FOXG1 disorder
- FOXG1 p.His40Asn Uncertain significance Single submitter
- FOXG1 p.His40Gln Uncertain significance Single submitter
-
FOXG1 p.His48Pro
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.His56Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- FOXG1 p.Leu116Arg Uncertain significance Single submitter
-
FOXG1 p.Leu284Val
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Leu297Ile
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Leu451Met
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Lys127Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXG1 p.Lys147Met
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Lys156Arg
Uncertain significance
Single submitter
FOXG1 disorder
- FOXG1 p.Lys157Asn Uncertain significance Single submitter
- FOXG1 p.Lys283Arg Uncertain significance Single submitter
-
FOXG1 p.Lys97Arg
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Met192Ile
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Met426Val
Uncertain significance
Single submitter
FOXG1 disorder
- FOXG1 p.Phe265Leu Uncertain significance Single submitter
- FOXG1 p.Pro134Ser Uncertain significance Single submitter
-
FOXG1 p.Pro139Ser
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Pro142Ala
Uncertain significance
Single submitter
FOXG1 disorder
- FOXG1 p.Pro142Ser Uncertain significance Single submitter
-
FOXG1 p.Pro183Ser
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Pro243Arg
Uncertain significance
Single submitter
FOXG1 disorder
- FOXG1 p.Pro309Arg Uncertain significance Single submitter
-
FOXG1 p.Pro340Ser
Uncertain significance
Single submitter
Rett syndrome
-
FOXG1 p.Pro452Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXG1 p.Pro458Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXG1 p.Pro45His
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Pro45Leu
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Pro486Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXG1 p.Pro58Gln
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Pro63Gln
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Pro74Arg
Uncertain significance
Single submitter
FOXG1 disorder
- FOXG1 p.Pro74Ser Uncertain significance Single submitter
-
FOXG1 p.Pro85Arg
Uncertain significance
Single submitter
FOXG1 disorder
- FOXG1 p.Pro85Leu Uncertain significance Single submitter
-
FOXG1 p.Pro85Ser
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Pro99Ala
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Ser185Thr
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Ser19Thr
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Ser326Thr
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Ser336Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXG1 p.Ser42Thr
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Ser430Gly
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Ser433Thr
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Ser442Ala
Uncertain significance
Single submitter
FOXG1 disorder
- FOXG1 p.Ser449Trp Uncertain significance Single submitter
- FOXG1 p.Ser459Ala Uncertain significance Single submitter
-
FOXG1 p.Ser472Thr
Uncertain significance
Single submitter
FOXG1 disorder
- FOXG1 p.Thr279Ser Uncertain significance Single submitter
-
FOXG1 p.Thr298Ser
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Thr324Ala
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Thr346Pro
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Thr399Ser
Uncertain significance
Single submitter
FOXG1 disorder
- FOXG1 p.Thr450Ala Uncertain significance Single submitter
- FOXG1 p.Trp225Ser Uncertain significance Single submitter
-
FOXG1 p.Tyr217Asp
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Tyr217His
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Tyr334Cys
Uncertain significance
Single submitter
FOXG1 disorder
- FOXG1 p.Tyr341Cys Uncertain significance Single submitter
-
FOXG1 p.Val10Ala
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Val242Glu
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 84
The independent predictors disagree with each other — read with care.
-
FOXG1 p.Leu104Phe
Uncertain significance
Expert panel
FOXG1 disorder
-
FOXG1 p.Pro109Leu
Likely benign
Expert panel
FOXG1 disorder
-
FOXG1 p.Pro76Leu
Likely benign
Expert panel
FOXG1 disorder
-
FOXG1 p.Pro82Gln
Benign
Expert panel
FOXG1 disorder
-
FOXG1 p.Pro84His
Benign
Expert panel
FOXG1 disorder
-
FOXG1 p.Gly412Asp
Uncertain significance
Multiple submitters
FOXG1 disorder
-
FOXG1 p.Ile20Phe
Uncertain significance
Multiple submitters
FOXG1 disorder
-
FOXG1 p.Pro61Ser
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
-
FOXG1 p.Pro63Arg
Likely benign
Multiple submitters
FOXG1 disorder
- FOXG1 p.Pro68Ser Uncertain significance Multiple submitters
-
FOXG1 p.Pro77Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FOXG1 p.Ala282Thr Uncertain significance Single submitter
-
FOXG1 p.Ala375Thr
Conflicting
Single submitter
FOXG1 disorder
- FOXG1 p.Asn205Ser Uncertain significance Single submitter
-
FOXG1 p.Asn30Lys
Uncertain significance
Single submitter
FOXG1 disorder
- FOXG1 p.Asn403Lys Uncertain significance Single submitter
- FOXG1 p.Cys396Ser Likely benign Single submitter
- FOXG1 p.Cys405Phe Uncertain significance Single submitter
- FOXG1 p.Gln480Arg Likely pathogenic Single submitter
-
FOXG1 p.Gly152Trp
Benign
Single submitter
FOXG1 disorder
-
FOXG1 p.Gly153Trp
Conflicting
Single submitter
Inborn genetic diseases
-
FOXG1 p.Gly168Arg
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Gly296Val
Likely benign
Single submitter
FOXG1 disorder
- FOXG1 p.Gly370Glu Uncertain significance Single submitter
-
FOXG1 p.Gly466Glu
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Gly470Val
Likely benign
Single submitter
FOXG1 disorder
- FOXG1 p.Gly481Arg Uncertain significance Single submitter
- FOXG1 p.Gly481Glu Uncertain significance Single submitter
-
FOXG1 p.Gly5Arg
Uncertain significance
Single submitter
FOXG1 disorder
- FOXG1 p.His378Tyr Uncertain significance Single submitter
-
FOXG1 p.His43Arg
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.His44Arg
Likely benign
Single submitter
FOXG1 disorder
-
FOXG1 p.His489Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXG1 p.His48Asp
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.His48Tyr
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.His49Gln
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.His50Arg
Uncertain significance
Single submitter
FOXG1 disorder
- FOXG1 p.Ile20Val Uncertain significance Single submitter
-
FOXG1 p.Leu306Phe
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Leu409Val
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Lys11Glu
Uncertain significance
Single submitter
FOXG1 disorder
- FOXG1 p.Lys11Thr Uncertain significance Single submitter
-
FOXG1 p.Met212Thr
Likely pathogenic
Single submitter
FOXG1 disorder
-
FOXG1 p.Met300Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- FOXG1 p.Met310Lys Uncertain significance Single submitter
-
FOXG1 p.Phe418Leu
Uncertain significance
Single submitter
FOXG1 disorder
- FOXG1 p.Pro106Leu Uncertain significance Single submitter
- FOXG1 p.Pro107Leu Uncertain significance Single submitter
-
FOXG1 p.Pro108Leu
Likely benign
Single submitter
FOXG1 disorder
-
FOXG1 p.Pro108Ser
Benign
Single submitter
FOXG1 disorder
-
FOXG1 p.Pro109Thr
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Pro110Arg
Conflicting
Single submitter
FOXG1 disorder
-
FOXG1 p.Pro110Gln
Benign
Single submitter
FOXG1 disorder
-
FOXG1 p.Pro110Ser
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Pro110Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- FOXG1 p.Pro112Leu Likely benign Single submitter
-
FOXG1 p.Pro14Ser
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Pro419Ser
Conflicting
Single submitter
FOXG1 disorder
- FOXG1 p.Pro419Thr Uncertain significance Single submitter
-
FOXG1 p.Pro58Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXG1 p.Pro58Leu
Likely benign
Single submitter
FOXG1 disorder
-
FOXG1 p.Pro59Leu
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Pro60Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXG1 p.Pro63Ser
Conflicting
Single submitter
FOXG1 disorder
-
FOXG1 p.Pro65Ser
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Pro66Ala
Likely benign
Single submitter
FOXG1 disorder
-
FOXG1 p.Pro66Leu
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Pro66Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXG1 p.Pro75Arg
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Pro75Leu
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Pro79Ala
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Pro79Ser
Likely benign
Single submitter
Inborn genetic diseases
-
FOXG1 p.Pro79Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXG1 p.Pro80Leu
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Pro84Arg
Conflicting
Single submitter
FOXG1 disorder
-
FOXG1 p.Pro84Leu
Benign
Single submitter
FOXG1 disorder
-
FOXG1 p.Ser16Pro
Uncertain significance
Single submitter
FOXG1 disorder
- FOXG1 p.Ser19Gly Uncertain significance Single submitter
- FOXG1 p.Thr279Asn Uncertain significance Single submitter
-
FOXG1 p.Tyr374Cys
Uncertain significance
Single submitter
FOXG1 disorder
-
FOXG1 p.Val394Gly
Uncertain significance
Single submitter
FOXG1 disorder
- FOXG1 p.Val407Ala Uncertain significance Single submitter
-
FOXG1 p.Val407Leu
Benign
Single submitter
FOXG1 disorder
-
FOXG1 p.Tyr416Ser
Uncertain significance
No assertion criteria
FOXG1-related disorder
All FOXG1 variants
Pathogenic 139
- p.Asn187Lys Expert panel FOXG1 disorder
- p.Gln86fs Expert panel FOXG1 disorder
- p.Gly267Ser Expert panel FOXG1 disorder
- p.Pro63fs Expert panel FOXG1 disorder
- p.Ser234Phe Expert panel FOXG1 disorder
- p.Ala81fs Multiple submitters FOXG1 disorder
- p.Arg320fs Multiple submitters FOXG1 disorder
- p.Arg88fs Multiple submitters FOXG1 disorder
- p.Asn187Asp Multiple submitters FOXG1 disorder
- p.Asn232Asp Multiple submitters FOXG1 disorder
- p.Gln100fs Multiple submitters FOXG1 disorder
- p.Gln101Ter Multiple submitters FOXG1 disorder
- p.Gln196Ter Multiple submitters FOXG1 disorder
- p.Gln46Ter Multiple submitters FOXG1 disorder
- p.Gln72Ter Multiple submitters FOXG1 disorder
- p.Glu136Ter Multiple submitters FOXG1 disorder
- p.Glu144Ter Multiple submitters FOXG1 disorder
- p.Glu154Ter Multiple submitters FOXG1-related disorder
- p.Glu173Ter Multiple submitters FOXG1 disorder
- p.Gly169fs Multiple submitters FOXG1 disorder
- p.Gly250Arg Multiple submitters FOXG1 disorder
- p.Leu189Phe Multiple submitters FOXG1 disorder
- p.Leu325fs Multiple submitters FOXG1 disorder
- p.Leu362fs Multiple submitters Inborn genetic diseases
- p.Lys170fs Multiple submitters FOXG1 disorder
- p.Lys181Asn Multiple submitters FOXG1 disorder
- p.Met192del Multiple submitters FOXG1 disorder
- p.Met339fs Multiple submitters FOXG1 disorder
- p.Phe239Leu Multiple submitters Inborn genetic diseases
- p.Pro75fs Multiple submitters FOXG1 disorder
- p.Ser185fs Multiple submitters FOXG1 disorder
- p.Ser468fs Multiple submitters FOXG1 disorder
- p.Ser472fs Multiple submitters FOXG1 disorder
- p.Trp255Ter Multiple submitters FOXG1-related disorder
- p.Trp308Ter Multiple submitters Rett syndrome
- p.Tyr208Ter Multiple submitters Inborn genetic diseases
- p.Tyr217Ter Multiple submitters FOXG1 disorder
- p.Tyr307Ter Multiple submitters FOXG1 disorder
- p.Tyr341Ter Multiple submitters FOXG1 disorder
- p.Tyr400Ter Multiple submitters FOXG1 disorder
- p.Tyr416Ter Multiple submitters FOXG1 disorder
- p.Ala119fs Single submitter FOXG1 disorder
- p.Ala138fs Single submitter FOXG1 disorder
- p.Ala359fs Single submitter FOXG1 disorder
- p.Ala381fs Single submitter FOXG1 disorder
- p.Arg274Gln Single submitter FOXG1 disorder
- p.Arg366fs Single submitter FOXG1 disorder
- p.Arg457fs Single submitter
- p.Asn187del Single submitter FOXG1 disorder
- p.Asn187Tyr Single submitter
- p.Asn232Thr Single submitter Rett syndrome
- p.Asn236Lys Single submitter
- p.Asn353fs Single submitter
- p.Asp263fs Single submitter FOXG1 disorder
- p.Cys390fs Single submitter
- p.Cys390Ter Single submitter FOXG1 disorder
- p.Cys453_Glu454delinsTer Single submitter FOXG1 disorder
- p.Gln196Pro Single submitter FOXG1 disorder
- p.Gln223Ter Single submitter
- p.Gln226Glu Single submitter FOXG1 disorder
- p.Gln29fs Single submitter FOXG1 disorder
- p.Gln29Ter Single submitter
- p.Gln46fs Single submitter FOXG1 disorder
- p.Gln64Ter Single submitter FOXG1 disorder
- p.Gln70Ter Single submitter FOXG1 disorder
- p.Gln73Ter Single submitter
- p.Gln83fs Single submitter FOXG1 disorder
- p.Glu129fs Single submitter FOXG1 disorder
- p.Glu129Ter Single submitter
- p.Glu136fs Single submitter
- p.Glu146Ter Single submitter
- p.Glu154fs Single submitter FOXG1 disorder
- p.Glu167fs Single submitter FOXG1 disorder
- p.Glu167Ter Single submitter FOXG1 disorder
- p.Glu171Ter Single submitter
- p.Glu199fs Single submitter FOXG1 disorder
- p.Glu371Ter Single submitter
- p.Gly163fs Single submitter FOXG1 disorder
- p.Gly177fs Single submitter
- p.Gly252Ser Single submitter
- p.Gly89fs Single submitter FOXG1 disorder
- p.His231Arg Single submitter FOXG1 disorder
- p.His245fs Single submitter FOXG1 disorder
- p.His317fs Single submitter FOXG1 disorder
- p.His52fs Single submitter FOXG1 disorder
- p.Ile211_Met212insTer Single submitter FOXG1 disorder
- p.Ile211Thr Single submitter FOXG1 disorder
- p.Ile266Asn Single submitter
- p.Ile266Ser Single submitter FOXG1 disorder
- p.Ile266Thr Single submitter FOXG1 disorder
- p.Leu204fs Single submitter FOXG1 disorder
- p.Leu233fs Single submitter FOXG1 disorder
- p.Leu235fs Single submitter
- p.Leu316fs Single submitter FOXG1 disorder
- p.Leu379fs Single submitter FOXG1 disorder
- p.Leu471fs Single submitter FOXG1 disorder
- p.Lys147Ter Single submitter FOXG1 disorder
- p.Lys157Ter Single submitter FOXG1 disorder
- p.Lys178Ter Single submitter FOXG1 disorder
- p.Lys181Ter Single submitter FOXG1 disorder
- p.Lys200Ter Single submitter FOXG1 disorder
- p.Lys213Ter Single submitter FOXG1 disorder
- p.Lys272fs Single submitter FOXG1 disorder
- p.Lys287fs Single submitter Rett syndrome
- p.Lys287Ter Single submitter Inborn genetic diseases
- p.Met426fs Single submitter FOXG1 disorder
- p.Phe184fs Single submitter
- p.Phe215Leu Single submitter FOXG1 disorder
- p.Phe265fs Single submitter FOXG1 disorder
- p.Phe286fs Single submitter
- p.Pro105fs Single submitter FOXG1 disorder
- p.Pro130fs Single submitter FOXG1 disorder
- p.Pro134fs Single submitter
- p.Pro182Gln Single submitter FOXG1 disorder
- p.Pro198del Single submitter FOXG1 disorder
- p.Pro259Arg Single submitter Inborn genetic diseases
- p.Pro60fs Single submitter FOXG1 disorder
- p.Pro74fs Single submitter
- p.Pro77fs Single submitter
- p.Pro82fs Single submitter FOXG1 disorder
- p.Pro91fs Single submitter FOXG1 disorder
- p.Ser260fs Single submitter FOXG1 disorder
- p.Ser332fs Single submitter FOXG1 disorder
- p.Ser336fs Single submitter FOXG1 disorder
- p.Ser355fs Single submitter Inborn genetic diseases
- p.Ser387fs Single submitter
- p.Ser393Trp Single submitter
- p.Ser415fs Single submitter FOXG1 disorder
- p.Ser449fs Single submitter
- p.Thr346fs Single submitter FOXG1 disorder
- p.Trp225Ter Single submitter FOXG1-related disorder
- p.Trp255Arg Single submitter
- p.Trp255Cys Single submitter FOXG1 disorder
- p.Tyr208His Single submitter
- p.Tyr217fs Single submitter
- p.Tyr218Ter Single submitter FOXG1 disorder
- p.Tyr246Ter Single submitter FOXG1 disorder
- p.Tyr327Ter Single submitter FOXG1 disorder
- p.Arg281fs No assertion criteria FOXG1 disorder
Pathogenic/Likely pathogenic 27
- p.Ala193Thr Multiple submitters Inborn genetic diseases
- p.Ala193Val Multiple submitters Inborn genetic diseases
- p.Arg201Pro Multiple submitters FOXG1 disorder
- p.Arg244Cys Multiple submitters FOXG1 disorder
- p.Arg274Pro Multiple submitters FOXG1-related disorder
- p.Asn232Ser Multiple submitters FOXG1-related disorder
- p.Asn236del Multiple submitters Inborn genetic diseases
- p.Asn253Asp Multiple submitters FOXG1 disorder
- p.Gln226Ter Multiple submitters FOXG1-related disorder
- p.Gln86Ter Multiple submitters Inborn genetic diseases
- p.Glu180Ter Multiple submitters FOXG1 disorder
- p.His57fs Multiple submitters FOXG1-related disorder
- p.Leu202Phe Multiple submitters FOXG1 disorder
- p.Leu204Phe Multiple submitters FOXG1 disorder
- p.Leu235Phe Multiple submitters neurodevelopmental disorder
- p.Leu257Pro Multiple submitters FOXG1 disorder
- p.Phe215Ser Multiple submitters FOXG1 disorder
- p.Pro80fs Multiple submitters FOXG1-related disorder
- p.Ser197Ile Multiple submitters FOXG1 disorder
- p.Ser234Pro Multiple submitters FOXG1 disorder
- p.Ser323fs Multiple submitters FOXG1 disorder
- p.Trp225Gly Multiple submitters FOXG1 disorder
- p.Tyr179Ter Multiple submitters FOXG1 disorder
- p.Tyr218Cys Multiple submitters FOXG1-related disorder
- p.Tyr246fs Multiple submitters FOXG1 disorder
- p.Tyr254Ter Multiple submitters FOXG1 disorder
- p.Val264Gly Multiple submitters FOXG1 disorder
Likely pathogenic 80
- p.Arg230Leu Expert panel FOXG1 disorder
- p.Asn236Asp Expert panel FOXG1 disorder
- p.Gly224Ser Expert panel FOXG1 disorder
- p.Gly250Ser Expert panel FOXG1 disorder
- p.Ile207Thr Expert panel FOXG1 disorder
- p.Ile229Leu Expert panel FOXG1 disorder
- p.Leu189Val Expert panel FOXG1 disorder
- p.Met191Ile Expert panel FOXG1 disorder
- p.Ala188Glu Multiple submitters Rett syndrome
- p.Ala188Gly Multiple submitters FOXG1 disorder
- p.Arg230Cys Multiple submitters Rett syndrome
- p.Arg230His Multiple submitters FOXG1 disorder
- p.Cys238Tyr Multiple submitters FOXG1 disorder
- p.Gly172_Met192del Multiple submitters FOXG1 disorder
- p.Gly252Val Multiple submitters FOXG1 disorder
- p.Gly267Asp Multiple submitters FOXG1 disorder
- p.Gly271Asp Multiple submitters FOXG1 disorder
- p.Ile194Ser Multiple submitters FOXG1 disorder
- p.Met191Arg Multiple submitters FOXG1 disorder
- p.Phe215Cys Multiple submitters FOXG1 disorder
- p.Pro182Leu Multiple submitters FOXG1 disorder
- p.Ser185Cys Multiple submitters FOXG1 disorder
- p.Ala114fs Single submitter FOXG1 disorder
- p.Ala193Asp Single submitter FOXG1 disorder
- p.Ala193Pro Single submitter FOXG1-related disorder
- p.Ala282fs Single submitter FOXG1 disorder
- p.Ala35Val Single submitter FOXG1 disorder ⚠
- p.Ala92fs Single submitter
- p.Arg195Gln Single submitter Seizure
- p.Arg201Leu Single submitter FOXG1 disorder
- p.Arg244His Single submitter
- p.Asn205fs Single submitter FOXG1 disorder
- p.Asn227Ser Single submitter FOXG1 disorder
- p.Asn232Ile Single submitter FOXG1 disorder
- p.Asn253Lys Single submitter FOXG1 disorder
- p.Asn348fs Single submitter FOXG1 disorder
- p.Asn408Tyr Single submitter FOXG1 disorder
- p.Gln100Ter Single submitter FOXG1 disorder
- p.Gln480Arg Single submitter ⚠
- p.Glu173fs Single submitter FOXG1 disorder
- p.Gly224Asp Single submitter
- p.Gly250Asp Single submitter Inborn genetic diseases
- p.Gly252Asp Single submitter FOXG1 disorder
- p.Gly268fs Single submitter FOXG1 disorder
- p.Gly271Ser Single submitter FOXG1 disorder
- p.Gly296Argfs Single submitter
- p.His377fs Single submitter FOXG1-related disorder
- p.Ile190Phe Single submitter FOXG1 disorder
- p.Ile207Phe Single submitter FOXG1 disorder
- p.Ile211Asn Single submitter
- p.Ile229Lys Single submitter lissencephaly spectrum disorders
- p.Leu306fs Single submitter FOXG1 disorder
- p.Leu345fs Single submitter FOXG1-related disorder
- p.Leu471_Ser472insTer Single submitter FOXG1 disorder
- p.Lys283Ter Single submitter FOXG1 disorder
- p.Met191Leu Single submitter FOXG1 disorder
- p.Met192Val Single submitter FOXG1-related disorder
- p.Met212Thr Single submitter FOXG1 disorder ⚠
- p.Phe215Ile Single submitter FOXG1 disorder
- p.Phe356fs Single submitter Primary microcephaly
- p.Pro111fs Single submitter FOXG1 disorder
- p.Pro45fs Single submitter FOXG1 disorder
- p.Pro78fs Single submitter FOXG1-related disorder
- p.Pro79fs Single submitter FOXG1 disorder
- p.Ser185Ile Single submitter FOXG1 disorder
- p.Ser228Cys Single submitter FOXG1 disorder
- p.Ser397Phe Single submitter
- p.Thr203_Leu204del Single submitter FOXG1 disorder
- p.Thr331fs Single submitter FOXG1 disorder
- p.Tyr186Ter Single submitter
- p.Tyr218Ser Single submitter FOXG1 disorder
- p.Tyr254Cys Single submitter
- p.Tyr254Ser Single submitter Rett syndrome
- p.Tyr334Ter Single submitter combined oxidative phosphorylation defect type 24
- p.Tyr341fs Single submitter FOXG1 disorder
- p.Val240Gly Single submitter
- p.Ala113fs No assertion criteria FOXG1 disorder
- p.Ile194Thr No assertion criteria FOXG1 disorder
- p.Leu233Val No assertion criteria FOXG1 disorder
- p.Thr324_Leu325insTer No assertion criteria FOXG1 disorder
Conflicting classifications of pathogenicity 27
- p.Ala375Thr Single submitter FOXG1 disorder ⚠
- p.Ala81Thr Single submitter FOXG1 disorder ⚠
- p.Arg195Pro Single submitter FOXG1 disorder ⚠
- p.Asn232Tyr Single submitter Rett syndrome ⚠
- p.Asn253= Single submitter FOXG1 disorder
- p.Asp94Ala Single submitter Inborn genetic diseases ⚠
- p.Asp96Ala Single submitter FOXG1 disorder ⚠
- p.Gln446Leu Single submitter Inborn genetic diseases ⚠
- p.Gln73_Pro74insGlnGln Single submitter Inborn genetic diseases
- p.Gly153Trp Single submitter Inborn genetic diseases ⚠
- p.Gly166= Single submitter FOXG1 disorder
- p.Gly268Val Single submitter FOXG1 disorder ⚠
- p.Gly361Ser Single submitter Inborn genetic diseases ⚠
- p.Met212_Lys213del Single submitter FOXG1 disorder
- p.Met426Ile Single submitter Inborn genetic diseases ⚠
- p.Pro110Arg Single submitter FOXG1 disorder ⚠
- p.Pro111_Pro112dup Single submitter FOXG1 disorder
- p.Pro312= Single submitter FOXG1 disorder
- p.Pro419Ser Single submitter FOXG1 disorder ⚠
- p.Pro63Ser Single submitter FOXG1 disorder ⚠
- p.Pro65_Gln71del Single submitter FOXG1 disorder
- p.Pro74Leu Single submitter Inborn genetic diseases ⚠
- p.Pro84Arg Single submitter FOXG1 disorder ⚠
- p.Ser185Gly Single submitter FOXG1 disorder ⚠
- p.Ser401= Single submitter FOXG1 disorder
- p.Thr464Ala Single submitter FOXG1 disorder ⚠
- p.Val10Met Single submitter FOXG1 disorder ⚠
Benign 60
- c.*4C>T Expert panel FOXG1 disorder
- p.Ala115Val Expert panel FOXG1 disorder
- p.Ala90Ser Expert panel FOXG1 disorder
- p.Asn353Ser Expert panel FOXG1 disorder
- p.Gln70_Pro76del Expert panel FOXG1 disorder
- p.Gln70_Pro77del Expert panel FOXG1 disorder
- p.Gln70_Pro78del Expert panel FOXG1 disorder
- p.Gln70_Pro78dup Expert panel FOXG1 disorder
- p.Gln70Pro Expert panel FOXG1 disorder
- p.Gln73dup Expert panel FOXG1 disorder
- p.Gln73Pro Expert panel FOXG1 disorder
- p.Glu129_Gly132dup Expert panel FOXG1 disorder
- p.Glu155del Expert panel FOXG1 disorder
- p.Gly126Ser Expert panel FOXG1 disorder
- p.Gly152Ala Expert panel FOXG1 disorder
- p.Gly163= Expert panel FOXG1 disorder
- p.Gly168Ala Expert panel FOXG1 disorder
- p.Gly224= Expert panel FOXG1 disorder
- p.His55_His57del Expert panel FOXG1 disorder
- p.Leu362= Expert panel FOXG1 disorder
- p.Pro67= Expert panel FOXG1 disorder
- p.Pro69dup Expert panel FOXG1 disorder
- p.Pro74Gln Expert panel FOXG1 disorder
- p.Pro79_Pro80dup Expert panel FOXG1 disorder
- p.Pro80del Expert panel FOXG1 disorder
- p.Pro82Gln Expert panel FOXG1 disorder ⚠
- p.Pro84His Expert panel FOXG1 disorder ⚠
- p.Ser425Pro Expert panel FOXG1 disorder
- p.Ser441= Expert panel FOXG1 disorder
- p.Ser462Gly Expert panel FOXG1 disorder
- p.Ala411= Multiple submitters Inborn genetic diseases
- c.-338_-337insA Single submitter
- c.*100del Single submitter
- p.Ala121Gly Single submitter FOXG1 disorder
- p.Arg7= Single submitter FOXG1 disorder
- p.Arg88Pro Single submitter FOXG1 disorder
- p.Gly148Ala Single submitter FOXG1 disorder
- p.Gly148Asp Single submitter FOXG1 disorder
- p.Gly152Arg Single submitter FOXG1 disorder
- p.Gly152Trp Single submitter FOXG1 disorder ⚠
- p.Gly162= Single submitter FOXG1 disorder
- p.Gly329= Single submitter FOXG1 disorder
- p.Gly481= Single submitter FOXG1 disorder
- p.His39Tyr Single submitter FOXG1 disorder
- p.Leu103Gln Single submitter FOXG1 disorder
- p.Leu104Val Single submitter FOXG1 disorder
- p.Pro108Ser Single submitter FOXG1 disorder ⚠
- p.Pro110Gln Single submitter FOXG1 disorder ⚠
- p.Pro335Ser Single submitter FOXG1 disorder
- p.Pro461Ala Single submitter FOXG1 disorder
- p.Pro68_Pro69insAlaProGlnProProProPro Single submitter FOXG1 disorder
- p.Pro84Leu Single submitter FOXG1 disorder ⚠
- p.Ser311= Single submitter FOXG1 disorder
- p.Ser343= Single submitter FOXG1 disorder
- p.Ser349= Single submitter FOXG1 disorder
- p.Ser36Asn Single submitter FOXG1 disorder
- p.Ser449= Single submitter FOXG1 disorder
- p.Val140Ile Single submitter FOXG1 disorder
- p.Val407= Single submitter FOXG1 disorder
- p.Val407Leu Single submitter FOXG1 disorder ⚠
Benign/Likely benign 13
- c.*13C>A Multiple submitters
- p.Ala386= Multiple submitters FOXG1 disorder
- p.Gln86Glu Multiple submitters FOXG1 disorder
- p.Gly123Arg Multiple submitters FOXG1 disorder
- p.Gly126= Multiple submitters FOXG1 disorder
- p.His54= Multiple submitters
- p.His55= Multiple submitters FOXG1 disorder
- p.His57del Multiple submitters Inborn genetic diseases
- p.Pro61Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro63= Multiple submitters FOXG1 disorder
- p.Pro69Gln Multiple submitters Inborn genetic diseases
- p.Ser406= Multiple submitters FOXG1 disorder
- p.Thr331Ala Multiple submitters Inborn genetic diseases
Likely benign 224
- p.Ala92Val Expert panel FOXG1 disorder
- p.Arg88Gln Expert panel FOXG1 disorder
- p.Gln86Lys Expert panel FOXG1 disorder
- p.Gly128Cys Expert panel FOXG1 disorder
- p.His44Pro Expert panel FOXG1 disorder
- p.Pro109Leu Expert panel FOXG1 disorder ⚠
- p.Pro373= Expert panel FOXG1 disorder
- p.Pro76Leu Expert panel FOXG1 disorder ⚠
- p.Pro80dup Expert panel FOXG1 disorder
- p.Ser326Asn Expert panel FOXG1 disorder
- p.Ser349Ala Expert panel FOXG1 disorder
- p.Ala149= Multiple submitters FOXG1 disorder
- p.Ala159= Multiple submitters FOXG1 disorder
- p.Ala35= Multiple submitters FOXG1 disorder
- p.Ala438Val Multiple submitters Inborn genetic diseases
- p.Ala447= Multiple submitters FOXG1 disorder
- p.Ala62_Pro69del Multiple submitters FOXG1 disorder
- p.Arg366= Multiple submitters FOXG1 disorder
- p.Arg437= Multiple submitters FOXG1 disorder
- p.Asn176= Multiple submitters FOXG1 disorder
- p.Asn328= Multiple submitters FOXG1 disorder
- p.Asp96del Multiple submitters FOXG1 disorder
- p.Gln70_Pro75del Multiple submitters FOXG1 disorder
- p.Gln70_Pro79del Multiple submitters FOXG1 disorder
- p.Glu144Asp Multiple submitters Inborn genetic diseases
- p.Glu146Gly Multiple submitters
- p.Glu167= Multiple submitters FOXG1 disorder
- p.Gly152= Multiple submitters FOXG1 disorder
- p.Gly168= Multiple submitters FOXG1 disorder
- p.Gly267= Multiple submitters FOXG1 disorder
- p.His40del Multiple submitters Inborn genetic diseases
- p.His44Gln Multiple submitters FOXG1 disorder
- p.His50= Multiple submitters FOXG1 disorder
- p.His53= Multiple submitters Inborn genetic diseases
- p.His54_His57del Multiple submitters Inborn genetic diseases
- p.His57dup Multiple submitters FOXG1 disorder
- p.Leu102= Multiple submitters FOXG1 disorder
- p.Leu104= Multiple submitters FOXG1 disorder
- p.Leu189= Multiple submitters Inborn genetic diseases
- p.Leu284= Multiple submitters FOXG1 disorder
- p.Phe215= Multiple submitters FOXG1 disorder
- p.Phe418= Multiple submitters Inborn genetic diseases
- p.Pro106= Multiple submitters FOXG1 disorder
- p.Pro107= Multiple submitters FOXG1 disorder
- p.Pro108= Multiple submitters Inborn genetic diseases
- p.Pro111= Multiple submitters Inborn genetic diseases
- p.Pro61_Pro69del Multiple submitters FOXG1 disorder
- p.Pro63Arg Multiple submitters FOXG1 disorder ⚠
- p.Pro78_Pro82del Multiple submitters Inborn genetic diseases
- p.Pro80= Multiple submitters
- p.Ser19= Multiple submitters FOXG1 disorder
- p.Ser305= Multiple submitters FOXG1 disorder
- p.Ser440= Multiple submitters FOXG1 disorder
- p.Thr279= Multiple submitters FOXG1 disorder
- p.Thr464= Multiple submitters FOXG1 disorder
- p.Thr465= Multiple submitters Inborn genetic diseases
- p.Tyr400= Multiple submitters Inborn genetic diseases
- p.Val140= Multiple submitters FOXG1 disorder
- p.Val368= Multiple submitters FOXG1 disorder
- p.Val421= Multiple submitters Inborn genetic diseases
- c.-18C>T Single submitter
- c.-210del Single submitter
- c.-210dup Single submitter
- c.-269G>C Single submitter
- c.-26C>G Single submitter
- c.-329dup Single submitter
- c.*2A>T Single submitter
- p.144EK[3] Single submitter FOXG1 disorder
- p.Ala113= Single submitter FOXG1 disorder
- p.Ala138= Single submitter FOXG1 disorder
- p.Ala151= Single submitter FOXG1 disorder
- p.Ala188= Single submitter FOXG1 disorder
- p.Ala27= Single submitter FOXG1 disorder
- p.Ala303Thr Single submitter
- p.Ala321= Single submitter FOXG1 disorder
- p.Ala381= Single submitter FOXG1 disorder
- p.Ala382= Single submitter Inborn genetic diseases
- p.Ala385= Single submitter FOXG1 disorder
- p.Ala62= Single submitter FOXG1 disorder
- p.Ala62_Pro68del Single submitter FOXG1 disorder
- p.Ala93= Single submitter FOXG1 disorder
- p.Arg201= Single submitter FOXG1 disorder
- p.Arg219= Single submitter FOXG1 disorder
- p.Arg281= Single submitter FOXG1 disorder
- p.Arg288= Single submitter FOXG1 disorder
- p.Arg302= Single submitter
- p.Arg320= Single submitter
- p.Asn205= Single submitter
- p.Asn214= Single submitter FOXG1 disorder
- p.Asn232= Single submitter FOXG1 disorder
- p.Asn236= Single submitter FOXG1 disorder
- p.Asn30= Single submitter FOXG1 disorder
- p.Asn408= Single submitter
- p.Asp117= Single submitter FOXG1 disorder
- p.Asp3= Single submitter
- p.Asp301= Single submitter FOXG1 disorder
- p.Asp31Asn Single submitter
- p.Asp95His Single submitter
- p.Asp96Gly Single submitter FOXG1 disorder
- p.Cys238= Single submitter FOXG1 disorder
- p.Cys396Ser Single submitter ⚠
- p.Gln100= Single submitter
- p.Gln347Pro Single submitter FOXG1 disorder
- p.Gln46= Single submitter Inborn genetic diseases
- p.Gln70_Pro75dup Single submitter FOXG1 disorder
- p.Gln70_Pro80del Single submitter FOXG1 disorder
- p.Gln71= Single submitter
- p.Gln72_Gln73del Single submitter FOXG1 disorder
- p.Gln73del Single submitter FOXG1 disorder
- p.Glu154= Single submitter FOXG1 disorder
- p.Glu220= Single submitter FOXG1 disorder
- p.Glu26= Single submitter FOXG1 disorder
- p.Gly118= Single submitter FOXG1 disorder
- p.Gly125= Single submitter FOXG1 disorder
- p.Gly135= Single submitter FOXG1 disorder
- p.Gly141= Single submitter FOXG1 disorder
- p.Gly160= Single submitter FOXG1 disorder
- p.Gly169Val Single submitter
- p.Gly206= Single submitter FOXG1 disorder
- p.Gly250= Single submitter FOXG1 disorder
- p.Gly296Val Single submitter FOXG1 disorder ⚠
- p.Gly391= Single submitter FOXG1 disorder
- p.Gly470Val Single submitter FOXG1 disorder ⚠
- p.His245= Single submitter FOXG1 disorder
- p.His337= Single submitter FOXG1 disorder
- p.His354= Single submitter FOXG1 disorder
- p.His37= Single submitter FOXG1 disorder
- p.His44Arg Single submitter FOXG1 disorder ⚠
- p.His51= Single submitter FOXG1 disorder
- p.His52_His57del Single submitter FOXG1 disorder
- p.His56= Single submitter FOXG1 disorder
- p.His56_His57del Single submitter FOXG1 disorder
- p.His56_His57dup Single submitter FOXG1 disorder
- p.His57Gln Single submitter
- p.Ile13= Single submitter FOXG1 disorder
- p.Ile190= Single submitter FOXG1 disorder
- p.Ile194= Single submitter FOXG1 disorder
- p.Ile266= Single submitter FOXG1 disorder
- p.Leu102Pro Single submitter
- p.Leu116Pro Single submitter FOXG1 disorder
- p.Leu137= Single submitter FOXG1 disorder
- p.Leu202= Single submitter FOXG1 disorder
- p.Leu273= Single submitter FOXG1 disorder
- p.Leu314= Single submitter FOXG1 disorder
- p.Leu384= Single submitter FOXG1 disorder
- p.Leu409= Single submitter FOXG1 disorder
- p.Leu410= Single submitter FOXG1 disorder
- p.Leu467= Single submitter FOXG1 disorder
- p.Leu471= Single submitter FOXG1 disorder
- p.Lys145del Single submitter FOXG1 disorder
- p.Lys147= Single submitter FOXG1 disorder
- p.Lys157= Single submitter FOXG1 disorder
- p.Lys181= Single submitter FOXG1 disorder
- p.Lys213= Single submitter
- p.Lys251= Single submitter FOXG1 disorder
- p.Lys283= Single submitter FOXG1 disorder
- p.Phe239= Single submitter FOXG1 disorder
- p.Phe475= Single submitter FOXG1 disorder
- p.Pro108Leu Single submitter FOXG1 disorder ⚠
- p.Pro112Leu Single submitter ⚠
- p.Pro130= Single submitter FOXG1 disorder
- p.Pro134= Single submitter FOXG1 disorder
- p.Pro134Arg Single submitter
- p.Pro139= Single submitter FOXG1 disorder
- p.Pro182= Single submitter FOXG1 disorder
- p.Pro183= Single submitter FOXG1 disorder
- p.Pro198= Single submitter FOXG1 disorder
- p.Pro216= Single submitter FOXG1 disorder
- p.Pro243= Single submitter FOXG1 disorder
- p.Pro259= Single submitter FOXG1 disorder
- p.Pro335= Single submitter FOXG1 disorder
- p.Pro340= Single submitter FOXG1 disorder
- p.Pro404= Single submitter FOXG1 disorder
- p.Pro45= Single submitter
- p.Pro45_His53del Single submitter FOXG1 disorder
- p.Pro458= Single submitter FOXG1 disorder
- p.Pro486= Single submitter FOXG1 disorder
- p.Pro58Leu Single submitter FOXG1 disorder ⚠
- p.Pro60= Single submitter FOXG1 disorder
- p.Pro65= Single submitter FOXG1 disorder
- p.Pro66= Single submitter
- p.Pro66Ala Single submitter FOXG1 disorder ⚠
- p.Pro68_Pro69del Single submitter FOXG1 disorder
- p.Pro68_Pro69dup Single submitter FOXG1 disorder
- p.Pro69= Single submitter FOXG1 disorder
- p.Pro69_Gln71dup Single submitter
- p.Pro69del Single submitter FOXG1 disorder
- p.Pro69Leu Single submitter
- p.Pro74= Single submitter FOXG1 disorder
- p.Pro77_Pro78insGlnGlnGlnGlnProProProPro Single submitter
- p.Pro78= Single submitter FOXG1 disorder
- p.Pro78_Pro79insAla Single submitter
- p.Pro78_Pro80del Single submitter FOXG1 disorder
- p.Pro79Ser Single submitter Inborn genetic diseases ⚠
- p.Pro85= Single submitter
- p.Ser185= Single submitter FOXG1 disorder
- p.Ser234= Single submitter FOXG1 disorder
- p.Ser261= Single submitter FOXG1 disorder
- p.Ser315= Single submitter FOXG1 disorder
- p.Ser355= Single submitter FOXG1 disorder
- p.Ser357= Single submitter FOXG1 disorder
- p.Ser387= Single submitter FOXG1 disorder
- p.Ser393= Single submitter FOXG1 disorder
- p.Ser415Gly Single submitter
- p.Ser444= Single submitter FOXG1 disorder
- p.Ser459Cys Single submitter FOXG1 disorder
- p.Ser483= Single submitter FOXG1 disorder
- p.Ter490= Single submitter FOXG1 disorder
- p.Thr270= Single submitter Inborn genetic diseases
- p.Thr295= Single submitter FOXG1 disorder
- p.Thr331= Single submitter FOXG1 disorder
- p.Thr399= Single submitter
- p.Thr443= Single submitter FOXG1 disorder
- p.Thr87= Single submitter FOXG1 disorder
- p.Tyr179= Single submitter FOXG1 disorder
- p.Tyr186= Single submitter
- p.Tyr208= Single submitter FOXG1 disorder
- p.Tyr217= Single submitter FOXG1 disorder
- p.Tyr246= Single submitter
- p.Tyr307= Single submitter FOXG1 disorder
- p.Tyr374= Single submitter FOXG1 disorder
- p.Val240= Single submitter FOXG1 disorder
- p.Val364= Single submitter FOXG1 disorder
- p.Val421Phe Single submitter FOXG1 disorder
Uncertain significance 280
- p.Ala159Thr Expert panel FOXG1 disorder ⚠
- p.Asn227Lys Expert panel FOXG1 disorder ⚠
- p.Asn32Ser Expert panel FOXG1 disorder ⚠
- p.Glu144Lys Expert panel FOXG1 disorder ⚠
- p.Gly168Val Expert panel FOXG1 disorder ⚠
- p.His318Leu Expert panel FOXG1 disorder ⚠
- p.His55_His57dup Expert panel FOXG1 disorder
- p.Leu104_Pro105insGlnPro Expert panel FOXG1 disorder
- p.Leu104Phe Expert panel FOXG1 disorder ⚠
- p.Leu233= Expert panel FOXG1 disorder
- p.Pro112dup Expert panel FOXG1 disorder
- c.*8G>T Multiple submitters
- p.Ala151Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ala303Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala35Thr Multiple submitters FOXG1 disorder ⚠
- p.Ala90Val Multiple submitters FOXG1 disorder ⚠
- p.Ala93Thr Multiple submitters Inborn genetic diseases ⚠
- p.Asn227Ile Multiple submitters Inborn genetic diseases ⚠
- p.Glu146del Multiple submitters FOXG1 disorder
- p.Gly148Val Multiple submitters FOXG1 disorder ⚠
- p.Gly153Val Multiple submitters FOXG1 disorder ⚠
- p.Gly169Ala Multiple submitters FOXG1 disorder ⚠
- p.Gly169Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly412Asp Multiple submitters FOXG1 disorder ⚠
- p.Ile20Phe Multiple submitters FOXG1 disorder ⚠
- p.Lys127_Gly132del Multiple submitters FOXG1 disorder
- p.Lys147Arg Multiple submitters FOXG1 disorder ⚠
- p.Met1Leu Multiple submitters FOXG1 disorder
- p.Pro419Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro458Thr Multiple submitters FOXG1-related disorder
- p.Pro68Ser Multiple submitters ⚠
- p.Pro77Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro91Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro91Thr Multiple submitters FOXG1 disorder ⚠
- p.Thr87Pro Multiple submitters Inborn genetic diseases ⚠
- c.-13C>T Single submitter
- c.-13del Single submitter
- p.Ala113Thr Single submitter FOXG1 disorder ⚠
- p.Ala114= Single submitter FOXG1 disorder
- p.Ala114Thr Single submitter ⚠
- p.Ala115Gly Single submitter Inborn genetic diseases ⚠
- p.Ala119Ser Single submitter ⚠
- p.Ala121Pro Single submitter FOXG1 disorder ⚠
- p.Ala138Thr Single submitter FOXG1 disorder ⚠
- p.Ala138Val Single submitter ⚠
- p.Ala149Ser Single submitter FOXG1 disorder ⚠
- p.Ala159Val Single submitter Inborn genetic diseases ⚠
- p.Ala282Ser Single submitter ⚠
- p.Ala282Thr Single submitter ⚠
- p.Ala290= Single submitter FOXG1 disorder
- p.Ala290Val Single submitter FOXG1 disorder
- p.Ala333Val Single submitter FOXG1 disorder ⚠
- p.Ala438= Single submitter FOXG1 disorder
- p.Ala439Val Single submitter FOXG1 disorder ⚠
- p.Ala90Thr Single submitter FOXG1 disorder ⚠
- p.Arg201Gln Single submitter Inborn genetic diseases ⚠
- p.Arg219Gly Single submitter FOXG1 disorder ⚠
- p.Arg275Pro Single submitter FOXG1 disorder ⚠
- p.Arg276Cys Single submitter FOXG1 disorder ⚠
- p.Arg276His Single submitter ⚠
- p.Asn176Ser Single submitter FOXG1 disorder ⚠
- p.Asn205Ser Single submitter ⚠
- p.Asn227= Single submitter FOXG1 disorder
- p.Asn227Asp Single submitter FOXG1 disorder ⚠
- p.Asn236Ile Single submitter FOXG1 disorder ⚠
- p.Asn30Lys Single submitter FOXG1 disorder ⚠
- p.Asn348Ser Single submitter Inborn genetic diseases ⚠
- p.Asn403Lys Single submitter ⚠
- p.Asn403Ser Single submitter FOXG1 disorder ⚠
- p.Asn408Ser Single submitter FOXG1 disorder ⚠
- p.Asn41= Single submitter FOXG1 disorder
- p.Asp117Gly Single submitter FOXG1 disorder ⚠
- p.Asp143Glu Single submitter FOXG1 disorder ⚠
- p.Asp258Tyr Single submitter FOXG1 disorder ⚠
- p.Asp94Asn Single submitter FOXG1 disorder ⚠
- p.Asp95Asn Single submitter FOXG1 disorder ⚠
- p.Cys405= Single submitter FOXG1 disorder
- p.Cys405Phe Single submitter ⚠
- p.Gln100Leu Single submitter ⚠
- p.Gln223Arg Single submitter ⚠
- p.Gln226Pro Single submitter autism spectrum disorder ⚠
- p.Gln29Glu Single submitter FOXG1 disorder ⚠
- p.Gln413= Single submitter FOXG1 disorder
- p.Gln446Arg Single submitter Inborn genetic diseases ⚠
- p.Gln46His Single submitter Inborn genetic diseases ⚠
- p.Gln478= Single submitter FOXG1 disorder
- p.Gln480Pro Single submitter FOXG1 disorder ⚠
- p.Gln72His Single submitter ⚠
- p.Gln73= Single submitter FOXG1 disorder
- p.Gln73His Single submitter FOXG1 disorder ⚠
- p.Glu146Ala Single submitter FOXG1 disorder ⚠
- p.Glu167Asp Single submitter FOXG1 disorder ⚠
- p.Glu199= Single submitter FOXG1 disorder
- p.Glu9= Single submitter FOXG1 disorder
- p.Glu9del Single submitter FOXG1 disorder
- p.Gly118Arg Single submitter FOXG1 disorder ⚠
- p.Gly125Arg Single submitter Inborn genetic diseases ⚠
- p.Gly131Ala Single submitter FOXG1 disorder ⚠
- p.Gly131Val Single submitter FOXG1 disorder ⚠
- p.Gly132Ser Single submitter FOXG1 disorder ⚠
- p.Gly133Arg Single submitter FOXG1 disorder ⚠
- p.Gly133Glu Single submitter FOXG1 disorder ⚠
- p.Gly135Val Single submitter FOXG1 disorder ⚠
- p.Gly141Arg Single submitter Inborn genetic diseases ⚠
- p.Gly141Val Single submitter FOXG1 disorder ⚠
- p.Gly152_Gly153insAlaGly Single submitter FOXG1 disorder
- p.Gly152Glu Single submitter ⚠
- p.Gly152Val Single submitter FOXG1 disorder ⚠
- p.Gly153= Single submitter
- p.Gly153Arg Single submitter FOXG1 disorder ⚠
- p.Gly162Ser Single submitter FOXG1 disorder ⚠
- p.Gly163Ser Single submitter FOXG1-related disorder ⚠
- p.Gly166Ala Single submitter FOXG1 disorder ⚠
- p.Gly166Arg Single submitter FOXG1 disorder ⚠
- p.Gly168Arg Single submitter FOXG1 disorder ⚠
- p.Gly168Trp Single submitter
- p.Gly172= Single submitter FOXG1 disorder
- p.Gly177Ala Single submitter FOXG1 disorder ⚠
- p.Gly177Ser Single submitter Inborn genetic diseases ⚠
- p.Gly206Cys Single submitter FOXG1 disorder ⚠
- p.Gly206Val Single submitter ⚠
- p.Gly268= Single submitter FOXG1 disorder
- p.Gly268del Single submitter FOXG1 disorder
- p.Gly271Cys Single submitter Inborn genetic diseases ⚠
- p.Gly361= Single submitter FOXG1 disorder
- p.Gly370Glu Single submitter ⚠
- p.Gly398Ala Single submitter ⚠
- p.Gly466Ala Single submitter FOXG1 disorder ⚠
- p.Gly466Glu Single submitter FOXG1 disorder ⚠
- p.Gly469Val Single submitter FOXG1 disorder
- p.Gly470fs Single submitter FOXG1 disorder
- p.Gly481Arg Single submitter ⚠
- p.Gly481Glu Single submitter ⚠
- p.Gly481Val Single submitter
- p.Gly5Arg Single submitter FOXG1 disorder ⚠
- p.Gly89= Single submitter
- p.Gly98Ser Single submitter FOXG1 disorder ⚠
- p.His378Tyr Single submitter ⚠
- p.His39Gln Single submitter ⚠
- p.His40Arg Single submitter FOXG1 disorder ⚠
- p.His40Asn Single submitter ⚠
- p.His40Gln Single submitter ⚠
- p.His43Arg Single submitter FOXG1 disorder ⚠
- p.His489Tyr Single submitter Inborn genetic diseases ⚠
- p.His48Asp Single submitter FOXG1 disorder ⚠
- p.His48Pro Single submitter FOXG1 disorder ⚠
- p.His48Tyr Single submitter FOXG1 disorder ⚠
- p.His49Gln Single submitter FOXG1 disorder ⚠
- p.His50Arg Single submitter FOXG1 disorder ⚠
- p.His53_His57del Single submitter FOXG1 disorder
- p.His56Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile20Val Single submitter ⚠
- p.Leu116Arg Single submitter ⚠
- p.Leu137_Glu144del Single submitter Inborn genetic diseases
- p.Leu2_Asp3insAsnGlu Single submitter FOXG1 disorder
- p.Leu284Val Single submitter FOXG1 disorder ⚠
- p.Leu292= Single submitter FOXG1 disorder
- p.Leu297Ile Single submitter FOXG1 disorder ⚠
- p.Leu306Phe Single submitter FOXG1 disorder ⚠
- p.Leu379= Single submitter FOXG1 disorder
- p.Leu392= Single submitter FOXG1 disorder
- p.Leu409Val Single submitter FOXG1 disorder ⚠
- p.Leu451= Single submitter FOXG1 disorder
- p.Leu451Met Single submitter FOXG1 disorder ⚠
- p.Leu456= Single submitter FOXG1 disorder
- p.Lys11Glu Single submitter FOXG1 disorder ⚠
- p.Lys11Thr Single submitter ⚠
- p.Lys127Glu Single submitter Inborn genetic diseases ⚠
- p.Lys147Met Single submitter FOXG1 disorder ⚠
- p.Lys156Arg Single submitter FOXG1 disorder ⚠
- p.Lys157Asn Single submitter ⚠
- p.Lys157del Single submitter FOXG1 disorder
- p.Lys272= Single submitter FOXG1 disorder
- p.Lys283Arg Single submitter ⚠
- p.Lys97Arg Single submitter FOXG1 disorder ⚠
- p.Met192Ile Single submitter FOXG1 disorder ⚠
- p.Met300Ile Single submitter Inborn genetic diseases ⚠
- p.Met310Lys Single submitter ⚠
- p.Met426Val Single submitter FOXG1 disorder ⚠
- p.Met4Val Single submitter
- p.Phe265Leu Single submitter ⚠
- p.Phe356del Single submitter FOXG1 disorder
- p.Phe418Leu Single submitter FOXG1 disorder ⚠
- p.Pro106Leu Single submitter ⚠
- p.Pro107Leu Single submitter ⚠
- p.Pro109Thr Single submitter FOXG1 disorder ⚠
- p.Pro110_Pro112del Single submitter FOXG1 disorder
- p.Pro110Ser Single submitter FOXG1 disorder ⚠
- p.Pro110Thr Single submitter Inborn genetic diseases ⚠
- p.Pro111_Pro112del Single submitter
- p.Pro112_Ala113insProProPro Single submitter FOXG1 disorder
- p.Pro134Ser Single submitter ⚠
- p.Pro139Ser Single submitter FOXG1 disorder ⚠
- p.Pro142= Single submitter FOXG1 disorder
- p.Pro142Ala Single submitter FOXG1 disorder ⚠
- p.Pro142Ser Single submitter ⚠
- p.Pro14Ser Single submitter FOXG1 disorder ⚠
- p.Pro183Ser Single submitter FOXG1 disorder ⚠
- p.Pro243Arg Single submitter FOXG1 disorder ⚠
- p.Pro309Arg Single submitter ⚠
- p.Pro340Ser Single submitter Rett syndrome ⚠
- p.Pro373Ser Single submitter FOXG1 disorder
- p.Pro419= Single submitter FOXG1 disorder
- p.Pro419Thr Single submitter ⚠
- p.Pro45_His49del Single submitter
- p.Pro452= Single submitter FOXG1 disorder
- p.Pro452Ser Single submitter Inborn genetic diseases ⚠
- p.Pro458Ser Single submitter Inborn genetic diseases ⚠
- p.Pro45His Single submitter FOXG1 disorder ⚠
- p.Pro45Leu Single submitter FOXG1 disorder ⚠
- p.Pro486Ser Single submitter Inborn genetic diseases ⚠
- p.Pro58Arg Single submitter Inborn genetic diseases ⚠
- p.Pro58Gln Single submitter FOXG1 disorder ⚠
- p.Pro59Leu Single submitter FOXG1 disorder ⚠
- p.Pro60Ser Single submitter Inborn genetic diseases ⚠
- p.Pro63Gln Single submitter FOXG1 disorder ⚠
- p.Pro65Ser Single submitter FOXG1 disorder ⚠
- p.Pro66Leu Single submitter FOXG1 disorder ⚠
- p.Pro66Thr Single submitter Inborn genetic diseases ⚠
- p.Pro68= Single submitter FOXG1 disorder
- p.Pro74Arg Single submitter FOXG1 disorder ⚠
- p.Pro74Ser Single submitter ⚠
- p.Pro75Arg Single submitter FOXG1 disorder ⚠
- p.Pro75Leu Single submitter FOXG1 disorder ⚠
- p.Pro79Ala Single submitter FOXG1 disorder ⚠
- p.Pro79Thr Single submitter Inborn genetic diseases ⚠
- p.Pro80Leu Single submitter FOXG1 disorder ⚠
- p.Pro82= Single submitter FOXG1 disorder
- p.Pro85Arg Single submitter FOXG1 disorder ⚠
- p.Pro85Leu Single submitter ⚠
- p.Pro85Ser Single submitter FOXG1 disorder ⚠
- p.Pro99Ala Single submitter FOXG1 disorder ⚠
- p.Ser16Pro Single submitter FOXG1 disorder ⚠
- p.Ser17= Single submitter FOXG1 disorder
- p.Ser185Thr Single submitter FOXG1 disorder ⚠
- p.Ser19Gly Single submitter ⚠
- p.Ser19Thr Single submitter FOXG1 disorder ⚠
- p.Ser280= Single submitter FOXG1 disorder
- p.Ser294Pro Single submitter
- p.Ser326fs Single submitter FOXG1 disorder
- p.Ser326Thr Single submitter FOXG1 disorder ⚠
- p.Ser336Gly Single submitter Inborn genetic diseases ⚠
- p.Ser42= Single submitter FOXG1 disorder
- p.Ser42Thr Single submitter FOXG1 disorder ⚠
- p.Ser430Gly Single submitter FOXG1 disorder ⚠
- p.Ser433Thr Single submitter FOXG1 disorder ⚠
- p.Ser442Ala Single submitter FOXG1 disorder ⚠
- p.Ser449Trp Single submitter ⚠
- p.Ser459Ala Single submitter ⚠
- p.Ser472Thr Single submitter FOXG1 disorder ⚠
- p.Thr278Ser Single submitter FOXG1 disorder
- p.Thr279Asn Single submitter ⚠
- p.Thr279Ser Single submitter ⚠
- p.Thr298Ser Single submitter FOXG1 disorder ⚠
- p.Thr324Ala Single submitter FOXG1 disorder ⚠
- p.Thr346Pro Single submitter FOXG1 disorder ⚠
- p.Thr399Ser Single submitter FOXG1 disorder ⚠
- p.Thr414Ser Single submitter
- p.Thr450= Single submitter FOXG1 disorder
- p.Thr450Ala Single submitter ⚠
- p.Thr476Ala Single submitter FOXG1 disorder
- p.Trp225Ser Single submitter ⚠
- p.Tyr217Asp Single submitter FOXG1 disorder ⚠
- p.Tyr217His Single submitter FOXG1 disorder ⚠
- p.Tyr334Cys Single submitter FOXG1 disorder ⚠
- p.Tyr341Cys Single submitter ⚠
- p.Tyr374Cys Single submitter FOXG1 disorder ⚠
- p.Val10Ala Single submitter FOXG1 disorder ⚠
- p.Val242Glu Single submitter Inborn genetic diseases ⚠
- p.Val264Ala Single submitter FOXG1 disorder ⚠
- p.Val28= Single submitter FOXG1 disorder
- p.Val28Ile Single submitter ⚠
- p.Val344= Single submitter
- p.Val344Met Single submitter Inborn genetic diseases ⚠
- p.Val394Gly Single submitter FOXG1 disorder ⚠
- p.Val407Ala Single submitter ⚠
- p.Val407Ile Single submitter ⚠
- p.Val421Leu Single submitter Inborn genetic diseases ⚠
- p.Gly296Ser No assertion criteria FOXG1-related disorder ⚠
- p.Tyr416Ser No assertion criteria FOXG1-related disorder ⚠