RBFOX1 — 437 ClinVar variants

All ClinVar germline RBFOX1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 147 flagged for review →

3 Likely pathogenic · 3 Conflicting · 13 Benign · 2 Benign/Likely benign · 195 Likely benign · 221 Uncertain significance

Full RBFOX1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 147

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 lean, ClinVar uncertain 107

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

RBFOX1 p.Ala225Thr Uncertain significance Multiple submitters
idiopathic generalized epilepsy
RBFOX1 p.Ala264Thr Uncertain significance Multiple submitters
Inborn genetic diseases
RBFOX1 p.Ala315Thr Uncertain significance Multiple submitters
idiopathic generalized epilepsy
RBFOX1 p.Arg393Cys Uncertain significance Multiple submitters
Inborn genetic diseases
RBFOX1 p.Asn35Ser Uncertain significance Multiple submitters
Inborn genetic diseases
RBFOX1 p.Gly296Ser Uncertain significance Multiple submitters
idiopathic generalized epilepsy
RBFOX1 p.Leu363Phe Uncertain significance Multiple submitters
Inborn genetic diseases
RBFOX1 p.Pro18Ala Uncertain significance Multiple submitters
idiopathic generalized epilepsy
RBFOX1 p.Pro33Gln Uncertain significance Multiple submitters
idiopathic generalized epilepsy
RBFOX1 p.Pro44Ser Uncertain significance Multiple submitters
idiopathic generalized epilepsy
RBFOX1 p.Pro67Ala Uncertain significance Multiple submitters
Inborn genetic diseases
RBFOX1 p.Pro67Ser Uncertain significance Multiple submitters
Inborn genetic diseases
RBFOX1 p.Ser27Leu Uncertain significance Multiple submitters
idiopathic generalized epilepsy
RBFOX1 p.Ser73Ala Uncertain significance Multiple submitters
Inborn genetic diseases
RBFOX1 p.Ser86Cys Uncertain significance Multiple submitters
idiopathic generalized epilepsy
RBFOX1 p.Val378Ile Uncertain significance Multiple submitters
idiopathic generalized epilepsy
RBFOX1 p.Ala15Ser Uncertain significance Single submitter
Inborn genetic diseases
RBFOX1 p.Ala15Thr Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Ala167Thr Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Ala167Val Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Ala169Val Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Ala16Thr Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Ala16Val Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Ala172Val Uncertain significance Single submitter
RBFOX1 p.Ala243Gly Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Ala260Val Uncertain significance Single submitter
Inborn genetic diseases
RBFOX1 p.Ala263Thr Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Ala266Val Uncertain significance Single submitter
Inborn genetic diseases
RBFOX1 p.Ala26Pro Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Ala314Thr Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Ala315Val Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Ala319Ser Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Ala319Thr Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Ala327Thr Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Ala328Thr Uncertain significance Single submitter
Inborn genetic diseases
RBFOX1 p.Ala43Ser Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Ala49Val Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Ala69Gly Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Ala69Thr Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Ala78Gly Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Ala78Ser Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Ala78Val Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Ala82Thr Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Ala82Val Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Ala89Thr Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Arg275Cys Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Arg277Cys Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Arg388Gln Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Arg393His Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Asn11Asp Uncertain significance Single submitter
RBFOX1 p.Asn234Lys Uncertain significance Single submitter
Inborn genetic diseases
RBFOX1 p.Asn392Ser Uncertain significance Single submitter
Inborn genetic diseases
RBFOX1 p.Asn64Ile Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Asp19Asn Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Gln55Glu Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Gln70His Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Gln75His Uncertain significance Single submitter
Inborn genetic diseases
RBFOX1 p.Gln75Pro Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Glu187Lys Uncertain significance Single submitter
Inborn genetic diseases
RBFOX1 p.Gly154Arg Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Gly157Arg Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Gly178Asp Uncertain significance Single submitter
Inborn genetic diseases
RBFOX1 p.Gly255Ser Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Gly297Arg Uncertain significance Single submitter
Inborn genetic diseases
RBFOX1 p.Gly297Ser Uncertain significance Single submitter
Inborn genetic diseases
RBFOX1 p.Gly312Cys Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Gly36Arg Uncertain significance Single submitter
Inborn genetic diseases
RBFOX1 p.Gly389Arg Uncertain significance Single submitter
Inborn genetic diseases
RBFOX1 p.His61Pro Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Ile292Met Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Ile37Val Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Leu176Phe Uncertain significance Single submitter
Inborn genetic diseases
RBFOX1 p.Lys142Glu Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Lys156Glu Uncertain significance Single submitter
Inborn genetic diseases
RBFOX1 p.Lys210Arg Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Met240Leu Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Met240Val Uncertain significance Single submitter
Inborn genetic diseases
RBFOX1 p.Met253Ile Uncertain significance Single submitter
Inborn genetic diseases
RBFOX1 p.Pro257Arg Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Pro321Arg Uncertain significance Single submitter
RBFOX1 p.Pro32Ala Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Pro33Thr Uncertain significance Single submitter
Inborn genetic diseases
RBFOX1 p.Pro362Ser Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Pro46Leu Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Pro77Leu Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Ser242Gly Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Ser245Cys Uncertain significance Single submitter
RBFOX1 p.Ser330Gly Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Ser76Arg Uncertain significance Single submitter
Inborn genetic diseases
RBFOX1 p.Thr227Met Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Thr325Ala Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Thr42Ala Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Thr42Pro Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Thr53Ala Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Thr56Ala Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Thr56Ser Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Thr57Met Uncertain significance Single submitter
Inborn genetic diseases
RBFOX1 p.Thr62Ile Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Thr71Lys Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Thr71Met Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Thr80Ala Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Val161Ile Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Val202Ala Uncertain significance Single submitter
Inborn genetic diseases
RBFOX1 p.Val214Ile Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Val215Gly Uncertain significance Single submitter
RBFOX1 p.Val248Leu Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Val279Met Uncertain significance Single submitter
idiopathic generalized epilepsy

Predictors split 40

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

RBFOX1 p.Arg317Cys Uncertain significance Multiple submitters
idiopathic generalized epilepsy
RBFOX1 p.Glu51Lys Uncertain significance Multiple submitters
idiopathic generalized epilepsy
RBFOX1 p.Ala270Ser Uncertain significance Single submitter
Inborn genetic diseases
RBFOX1 p.Ala285Ser Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Ala285Thr Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Ala286Gly Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Ala31Asp Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Ala384Asp Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Asn35Asp Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Asp79His Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Glu60Lys Uncertain significance Single submitter
RBFOX1 p.Gly178Ser Uncertain significance Single submitter
Inborn genetic diseases
RBFOX1 p.Ile143Val Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Lys199Asn Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Lys367Asn Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Met196Ile Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Pro204Ala Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Pro204Thr Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Pro288Leu Uncertain significance Single submitter
Inborn genetic diseases
RBFOX1 p.Pro289Leu Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Pro290Ser Uncertain significance Single submitter
Inborn genetic diseases
RBFOX1 p.Pro290Thr Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Pro291Ala Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Pro291Leu Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Pro291Ser Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Pro293Gln Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Pro59Arg Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Pro67Arg Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Pro68Leu Uncertain significance Single submitter
Inborn genetic diseases
RBFOX1 p.Ser86Phe Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Thr278Ile Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Thr42Arg Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Thr53Arg Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Thr80Lys Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Tyr280Cys Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Val180Met Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Val195Ala Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Val195Leu Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Val202Ile Uncertain significance Single submitter
idiopathic generalized epilepsy
RBFOX1 p.Val215Leu Uncertain significance Single submitter
idiopathic generalized epilepsy

All RBFOX1 variants

Likely pathogenic 3

p.Gly183Val Single submitter Inborn genetic diseases
p.Leu27Val Single submitter
p.Tyr397Asp Single submitter intellectual disability

Conflicting classifications of pathogenicity 3

p.Pro11His Single submitter Inborn genetic diseases
p.Pro19Arg Single submitter idiopathic generalized epilepsy
p.Ser4Cys Single submitter idiopathic generalized epilepsy

Benign 13

c.758-4G>T Multiple submitters idiopathic generalized epilepsy
c.931-19A>G Multiple submitters idiopathic generalized epilepsy
c.-64+166491C>A Multiple submitters idiopathic generalized epilepsy
p.Thr42= Multiple submitters idiopathic generalized epilepsy
c.270+10C>G Single submitter idiopathic generalized epilepsy
c.28-11del Single submitter idiopathic generalized epilepsy
c.758-5C>T Single submitter idiopathic generalized epilepsy
c.-126-6_-126-4del Single submitter
p.Glu236= Single submitter idiopathic generalized epilepsy
p.Pro19= Single submitter idiopathic generalized epilepsy
p.Pro24Ser Single submitter idiopathic generalized epilepsy
p.Pro293= Single submitter idiopathic generalized epilepsy
p.Thr88= Single submitter idiopathic generalized epilepsy

Benign/Likely benign 2

p.Pro32= Multiple submitters idiopathic generalized epilepsy
p.Pro46His Multiple submitters idiopathic generalized epilepsy

Likely benign 195

c.677-20TC[5] Multiple submitters idiopathic generalized epilepsy
c.995+19G>C Multiple submitters idiopathic generalized epilepsy
c.-229C>G Multiple submitters
p.Ala17= Multiple submitters idiopathic generalized epilepsy
p.Ala265= Multiple submitters idiopathic generalized epilepsy
p.Ala3= Multiple submitters idiopathic generalized epilepsy
p.Leu382= Multiple submitters Inborn genetic diseases
p.Pro59Ser Multiple submitters idiopathic generalized epilepsy
c.27+10C>T Single submitter
c.270+10C>T Single submitter idiopathic generalized epilepsy
c.270+11G>A Single submitter idiopathic generalized epilepsy
c.270+11G>T Single submitter idiopathic generalized epilepsy
c.270+19_270+22dup Single submitter idiopathic generalized epilepsy
c.270+20A>G Single submitter idiopathic generalized epilepsy
c.270+7G>T Single submitter idiopathic generalized epilepsy
c.270+8G>A Single submitter idiopathic generalized epilepsy
c.28-10G>T Single submitter idiopathic generalized epilepsy
c.28-13T>C Single submitter idiopathic generalized epilepsy
c.28-185041C>A Single submitter idiopathic generalized epilepsy
c.28-185041C>T Single submitter idiopathic generalized epilepsy
c.28-185043_28-185040del Single submitter idiopathic generalized epilepsy
c.28-185043T>C Single submitter idiopathic generalized epilepsy
c.28-185044C>G Single submitter idiopathic generalized epilepsy
c.28-185047C>T Single submitter idiopathic generalized epilepsy
c.28-185051A>T Single submitter idiopathic generalized epilepsy
c.28-20G>T Single submitter idiopathic generalized epilepsy
c.28-7847G>C Single submitter
c.28-7856A>G Single submitter
c.28-7863A>G Single submitter
c.340-9_340-8del Single submitter
c.415-12A>G Single submitter idiopathic generalized epilepsy
c.415-14C>A Single submitter idiopathic generalized epilepsy
c.415-14C>T Single submitter idiopathic generalized epilepsy
c.415-16T>C Single submitter idiopathic generalized epilepsy
c.415-17T>C Single submitter idiopathic generalized epilepsy
c.415-19T>C Single submitter idiopathic generalized epilepsy
c.415-20A>G Single submitter idiopathic generalized epilepsy
c.415-20A>T Single submitter idiopathic generalized epilepsy
c.468+10_468+11del Single submitter idiopathic generalized epilepsy
c.468+18C>G Single submitter idiopathic generalized epilepsy
c.469-13C>T Single submitter idiopathic generalized epilepsy
c.469-17C>T Single submitter idiopathic generalized epilepsy
c.469-8G>A Single submitter idiopathic generalized epilepsy
c.562-12C>T Single submitter idiopathic generalized epilepsy
c.562-15T>A Single submitter idiopathic generalized epilepsy
c.562-17G>C Single submitter idiopathic generalized epilepsy
c.562-20T>G Single submitter idiopathic generalized epilepsy
c.562-4A>T Single submitter idiopathic generalized epilepsy
c.562-5C>T Single submitter idiopathic generalized epilepsy
c.562-8G>A Single submitter idiopathic generalized epilepsy
c.562-8G>T Single submitter idiopathic generalized epilepsy
c.562-9T>C Single submitter idiopathic generalized epilepsy
c.622+10G>A Single submitter idiopathic generalized epilepsy
c.622+11A>T Single submitter idiopathic generalized epilepsy
c.622+12T>C Single submitter
c.623-16G>T Single submitter idiopathic generalized epilepsy
c.676+12C>G Single submitter idiopathic generalized epilepsy
c.676+7_676+8del Single submitter idiopathic generalized epilepsy
c.676+8G>A Single submitter
c.677-13C>T Single submitter idiopathic generalized epilepsy
c.677-4G>A Single submitter idiopathic generalized epilepsy
c.677-4G>T Single submitter idiopathic generalized epilepsy
c.677-5C>T Single submitter idiopathic generalized epilepsy
c.677-8T>G Single submitter idiopathic generalized epilepsy
c.757+14C>G Single submitter idiopathic generalized epilepsy
c.757+14C>T Single submitter idiopathic generalized epilepsy
c.757+15G>A Single submitter idiopathic generalized epilepsy
c.757+19C>G Single submitter idiopathic generalized epilepsy
c.757+7C>T Single submitter idiopathic generalized epilepsy
c.758-10T>C Single submitter idiopathic generalized epilepsy
c.758-12C>G Single submitter idiopathic generalized epilepsy
c.758-14_758-10del Single submitter idiopathic generalized epilepsy
c.758-15_758-14insTCCC Single submitter idiopathic generalized epilepsy
c.758-18_758-17insGT Single submitter idiopathic generalized epilepsy
c.758-19_758-18insGC Single submitter idiopathic generalized epilepsy
c.758-4G>A Single submitter idiopathic generalized epilepsy
c.758-5_758-4delinsTT Single submitter idiopathic generalized epilepsy
c.758-5C>G Single submitter idiopathic generalized epilepsy
c.758-6C>T Single submitter idiopathic generalized epilepsy
c.758-9G>T Single submitter idiopathic generalized epilepsy
c.890+15C>G Single submitter idiopathic generalized epilepsy
c.890+15C>T Single submitter idiopathic generalized epilepsy
c.890+17C>T Single submitter idiopathic generalized epilepsy
c.890+20G>T Single submitter idiopathic generalized epilepsy
c.890+8G>C Single submitter idiopathic generalized epilepsy
c.890+9G>A Single submitter
c.930+17G>C Single submitter
c.931-12C>T Single submitter idiopathic generalized epilepsy
c.931-15C>G Single submitter
c.931-18T>C Single submitter idiopathic generalized epilepsy
c.931-5155G>A Single submitter idiopathic generalized epilepsy
c.931-5156T>C Single submitter
c.931-5157G>C Single submitter idiopathic generalized epilepsy
c.931-5159T>C Single submitter idiopathic generalized epilepsy
c.931-5160C>A Single submitter idiopathic generalized epilepsy
c.931-5161A>G Single submitter idiopathic generalized epilepsy
c.931-5163C>G Single submitter idiopathic generalized epilepsy
c.931-5163C>T Single submitter idiopathic generalized epilepsy
c.931-5221A>G Single submitter idiopathic generalized epilepsy
c.931-5224C>T Single submitter idiopathic generalized epilepsy
c.931-5226T>G Single submitter idiopathic generalized epilepsy
c.931-5229G>C Single submitter
c.931-6T>C Single submitter idiopathic generalized epilepsy
c.931-8T>C Single submitter idiopathic generalized epilepsy
c.931-9G>C Single submitter idiopathic generalized epilepsy
c.995+14T>A Single submitter idiopathic generalized epilepsy
c.995+16C>T Single submitter idiopathic generalized epilepsy
c.995+9C>T Single submitter idiopathic generalized epilepsy
p.Ala15= Single submitter idiopathic generalized epilepsy
p.Ala167= Single submitter idiopathic generalized epilepsy
p.Ala169= Single submitter idiopathic generalized epilepsy
p.Ala191= Single submitter idiopathic generalized epilepsy
p.Ala21= Single submitter idiopathic generalized epilepsy
p.Ala263= Single submitter idiopathic generalized epilepsy
p.Ala264= Single submitter idiopathic generalized epilepsy
p.Ala270= Single submitter idiopathic generalized epilepsy
p.Ala285= Single submitter idiopathic generalized epilepsy
p.Ala286= Single submitter idiopathic generalized epilepsy
p.Ala326= Single submitter idiopathic generalized epilepsy
p.Ala328= Single submitter idiopathic generalized epilepsy
p.Ala43= Single submitter idiopathic generalized epilepsy
p.Ala78= Single submitter idiopathic generalized epilepsy
p.Arg268= Single submitter idiopathic generalized epilepsy
p.Arg273= Single submitter idiopathic generalized epilepsy
p.Arg275= Single submitter idiopathic generalized epilepsy
p.Arg277= Single submitter idiopathic generalized epilepsy
p.Asn35= Single submitter idiopathic generalized epilepsy
p.Gln29= Single submitter idiopathic generalized epilepsy
p.Gln70= Single submitter idiopathic generalized epilepsy
p.Glu152= Single submitter idiopathic generalized epilepsy
p.Glu74Gln Single submitter idiopathic generalized epilepsy
p.Gly13= Single submitter idiopathic generalized epilepsy
p.Gly274= Single submitter idiopathic generalized epilepsy
p.Gly311= Single submitter idiopathic generalized epilepsy
p.Gly6= Single submitter idiopathic generalized epilepsy
p.His177= Single submitter idiopathic generalized epilepsy
p.Ile17= Single submitter idiopathic generalized epilepsy
p.Ile292= Single submitter idiopathic generalized epilepsy
p.Leu229= Single submitter idiopathic generalized epilepsy
p.Leu272= Single submitter idiopathic generalized epilepsy
p.Leu329= Single submitter idiopathic generalized epilepsy
p.Leu363= Single submitter idiopathic generalized epilepsy
p.Leu63= Single submitter idiopathic generalized epilepsy
p.Leu8= Single submitter idiopathic generalized epilepsy
p.Leu9= Single submitter idiopathic generalized epilepsy
p.Pro213= Single submitter idiopathic generalized epilepsy
p.Pro24= Single submitter idiopathic generalized epilepsy
p.Pro25= Single submitter idiopathic generalized epilepsy
p.Pro257= Single submitter idiopathic generalized epilepsy
p.Pro289= Single submitter idiopathic generalized epilepsy
p.Pro290= Single submitter idiopathic generalized epilepsy
p.Pro291= Single submitter idiopathic generalized epilepsy
p.Pro323= Single submitter idiopathic generalized epilepsy
p.Pro33= Single submitter idiopathic generalized epilepsy
p.Pro38= Single submitter idiopathic generalized epilepsy
p.Pro44= Single submitter idiopathic generalized epilepsy
p.Pro46= Single submitter idiopathic generalized epilepsy
p.Pro48= Single submitter idiopathic generalized epilepsy
p.Pro48Ser Single submitter idiopathic generalized epilepsy
p.Pro59= Single submitter idiopathic generalized epilepsy
p.Pro67= Single submitter idiopathic generalized epilepsy
p.Pro68= Single submitter idiopathic generalized epilepsy
p.Pro77= Single submitter idiopathic generalized epilepsy
p.Ser146= Single submitter
p.Ser239= Single submitter idiopathic generalized epilepsy
p.Ser251= Single submitter idiopathic generalized epilepsy
p.Ser73= Single submitter idiopathic generalized epilepsy
p.Ser81= Single submitter idiopathic generalized epilepsy
p.Ter398= Single submitter idiopathic generalized epilepsy
p.Thr179= Single submitter idiopathic generalized epilepsy
p.Thr192= Single submitter idiopathic generalized epilepsy
p.Thr20= Single submitter idiopathic generalized epilepsy
p.Thr201= Single submitter idiopathic generalized epilepsy
p.Thr206= Single submitter idiopathic generalized epilepsy
p.Thr227= Single submitter idiopathic generalized epilepsy
p.Thr262= Single submitter idiopathic generalized epilepsy
p.Thr57= Single submitter idiopathic generalized epilepsy
p.Thr62= Single submitter idiopathic generalized epilepsy
p.Thr80= Single submitter idiopathic generalized epilepsy
p.Thr84= Single submitter idiopathic generalized epilepsy
p.Tyr12= Single submitter idiopathic generalized epilepsy
p.Tyr205= Single submitter idiopathic generalized epilepsy
p.Tyr23= Single submitter idiopathic generalized epilepsy
p.Tyr249= Single submitter idiopathic generalized epilepsy
p.Tyr267= Single submitter idiopathic generalized epilepsy
p.Tyr295= Single submitter idiopathic generalized epilepsy
p.Tyr305= Single submitter
p.Tyr313= Single submitter idiopathic generalized epilepsy
p.Tyr318= Single submitter idiopathic generalized epilepsy
p.Val18= Single submitter idiopathic generalized epilepsy
p.Val181= Single submitter idiopathic generalized epilepsy
p.Val195= Single submitter idiopathic generalized epilepsy
p.Val319= Single submitter idiopathic generalized epilepsy
c.-126-6C>T No assertion criteria RBFOX1-related disorder
c.-22C>T No assertion criteria RBFOX1-related disorder

Uncertain significance 221

p.Ala21Ser Multiple submitters idiopathic generalized epilepsy
p.Ala21Val Multiple submitters idiopathic generalized epilepsy
p.Ala225Thr Multiple submitters idiopathic generalized epilepsy ⚠
p.Ala264Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala315Thr Multiple submitters idiopathic generalized epilepsy ⚠
p.Arg317Cys Multiple submitters idiopathic generalized epilepsy ⚠
p.Arg393Cys Multiple submitters Inborn genetic diseases ⚠
p.Asn35Ser Multiple submitters Inborn genetic diseases ⚠
p.Glu164Ter Multiple submitters idiopathic generalized epilepsy
p.Glu174Asp Multiple submitters idiopathic generalized epilepsy
p.Glu51Lys Multiple submitters idiopathic generalized epilepsy ⚠
p.Gly296Ser Multiple submitters idiopathic generalized epilepsy ⚠
p.Ile28Thr Multiple submitters Inborn genetic diseases
p.Leu363Phe Multiple submitters Inborn genetic diseases ⚠
p.Met16Val Multiple submitters Inborn genetic diseases
p.Pro18Ala Multiple submitters idiopathic generalized epilepsy ⚠
p.Pro19Leu Multiple submitters Inborn genetic diseases
p.Pro22Ala Multiple submitters idiopathic generalized epilepsy
p.Pro33Gln Multiple submitters idiopathic generalized epilepsy ⚠
p.Pro44Ser Multiple submitters idiopathic generalized epilepsy ⚠
p.Pro67Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro67Ser Multiple submitters Inborn genetic diseases ⚠
p.Ser27Leu Multiple submitters idiopathic generalized epilepsy ⚠
p.Ser73Ala Multiple submitters Inborn genetic diseases ⚠
p.Ser86Cys Multiple submitters idiopathic generalized epilepsy ⚠
p.Val14Met Multiple submitters Inborn genetic diseases
p.Val378Ile Multiple submitters idiopathic generalized epilepsy ⚠
c.1072-2A>G Single submitter idiopathic generalized epilepsy
c.270+2dup Single submitter idiopathic generalized epilepsy
c.270+5G>T Single submitter idiopathic generalized epilepsy
c.28-185054T>C Single submitter idiopathic generalized epilepsy
c.28-3C>T Single submitter idiopathic generalized epilepsy
c.559_561+10del Single submitter
c.562-6A>G Single submitter
c.622+3_622+4del Single submitter idiopathic generalized epilepsy
c.622+4A>G Single submitter idiopathic generalized epilepsy
c.622+5G>T Single submitter idiopathic generalized epilepsy
c.676+1G>T Single submitter idiopathic generalized epilepsy
c.676+4_676+5del Single submitter idiopathic generalized epilepsy
c.676+4C>T Single submitter idiopathic generalized epilepsy
c.676+6G>C Single submitter idiopathic generalized epilepsy
c.677-9C>G Single submitter idiopathic generalized epilepsy
c.757+6C>A Single submitter idiopathic generalized epilepsy
c.87+2T>C Single submitter idiopathic generalized epilepsy
c.931-20_931-19inv Single submitter idiopathic generalized epilepsy
c.931-3T>C Single submitter idiopathic generalized epilepsy
c.931-5170G>A Single submitter idiopathic generalized epilepsy
c.931-5222T>C Single submitter idiopathic generalized epilepsy
c.931-5226T>A Single submitter idiopathic generalized epilepsy
c.993+1G>A Single submitter idiopathic generalized epilepsy
c.995+2T>A Single submitter idiopathic generalized epilepsy
p.Ala15Ser Single submitter Inborn genetic diseases ⚠
p.Ala15Thr Single submitter idiopathic generalized epilepsy ⚠
p.Ala167Thr Single submitter idiopathic generalized epilepsy ⚠
p.Ala167Val Single submitter idiopathic generalized epilepsy ⚠
p.Ala169Val Single submitter idiopathic generalized epilepsy ⚠
p.Ala16Thr Single submitter idiopathic generalized epilepsy ⚠
p.Ala16Val Single submitter idiopathic generalized epilepsy ⚠
p.Ala172Val Single submitter ⚠
p.Ala20Val Single submitter idiopathic generalized epilepsy
p.Ala243Gly Single submitter idiopathic generalized epilepsy ⚠
p.Ala260Val Single submitter Inborn genetic diseases ⚠
p.Ala263Thr Single submitter idiopathic generalized epilepsy ⚠
p.Ala266Val Single submitter Inborn genetic diseases ⚠
p.Ala26Pro Single submitter idiopathic generalized epilepsy ⚠
p.Ala270Ser Single submitter Inborn genetic diseases ⚠
p.Ala285Ser Single submitter idiopathic generalized epilepsy ⚠
p.Ala285Thr Single submitter idiopathic generalized epilepsy ⚠
p.Ala286Gly Single submitter idiopathic generalized epilepsy ⚠
p.Ala314Thr Single submitter idiopathic generalized epilepsy ⚠
p.Ala315Val Single submitter idiopathic generalized epilepsy ⚠
p.Ala319Ser Single submitter idiopathic generalized epilepsy ⚠
p.Ala319Thr Single submitter idiopathic generalized epilepsy ⚠
p.Ala31Asp Single submitter idiopathic generalized epilepsy ⚠
p.Ala327_Ala328del Single submitter idiopathic generalized epilepsy
p.Ala327Thr Single submitter idiopathic generalized epilepsy ⚠
p.Ala328Thr Single submitter Inborn genetic diseases ⚠
p.Ala384Asp Single submitter idiopathic generalized epilepsy ⚠
p.Ala43Ser Single submitter idiopathic generalized epilepsy ⚠
p.Ala49Val Single submitter idiopathic generalized epilepsy ⚠
p.Ala69Gly Single submitter idiopathic generalized epilepsy ⚠
p.Ala69Thr Single submitter idiopathic generalized epilepsy ⚠
p.Ala78Gly Single submitter idiopathic generalized epilepsy ⚠
p.Ala78Ser Single submitter idiopathic generalized epilepsy ⚠
p.Ala78Val Single submitter idiopathic generalized epilepsy ⚠
p.Ala82Thr Single submitter idiopathic generalized epilepsy ⚠
p.Ala82Val Single submitter idiopathic generalized epilepsy ⚠
p.Ala89Thr Single submitter idiopathic generalized epilepsy ⚠
p.Arg275Cys Single submitter idiopathic generalized epilepsy ⚠
p.Arg277Cys Single submitter idiopathic generalized epilepsy ⚠
p.Arg277fs Single submitter idiopathic generalized epilepsy
p.Arg388Gln Single submitter idiopathic generalized epilepsy ⚠
p.Arg388Ter Single submitter idiopathic generalized epilepsy
p.Arg393His Single submitter idiopathic generalized epilepsy ⚠
p.Asn11Asp Single submitter ⚠
p.Asn11fs Single submitter idiopathic generalized epilepsy
p.Asn198fs Single submitter idiopathic generalized epilepsy
p.Asn234Lys Single submitter Inborn genetic diseases ⚠
p.Asn35Asp Single submitter idiopathic generalized epilepsy ⚠
p.Asn35Thr Single submitter idiopathic generalized epilepsy
p.Asn392Ser Single submitter Inborn genetic diseases ⚠
p.Asn64Ile Single submitter idiopathic generalized epilepsy ⚠
p.Asp19Asn Single submitter idiopathic generalized epilepsy ⚠
p.Asp79His Single submitter idiopathic generalized epilepsy ⚠
p.Gln29Arg Single submitter idiopathic generalized epilepsy
p.Gln29Ter Single submitter idiopathic generalized epilepsy
p.Gln331Ter Single submitter
p.Gln55Glu Single submitter idiopathic generalized epilepsy ⚠
p.Gln70His Single submitter idiopathic generalized epilepsy ⚠
p.Gln75His Single submitter Inborn genetic diseases ⚠
p.Gln75Pro Single submitter idiopathic generalized epilepsy ⚠
p.Glu187Lys Single submitter Inborn genetic diseases ⚠
p.Glu60Lys Single submitter ⚠
p.Glu71Ter Single submitter
p.Gly13Val Single submitter idiopathic generalized epilepsy
p.Gly154Arg Single submitter idiopathic generalized epilepsy ⚠
p.Gly157Arg Single submitter idiopathic generalized epilepsy ⚠
p.Gly178Asp Single submitter Inborn genetic diseases ⚠
p.Gly178Ser Single submitter Inborn genetic diseases ⚠
p.Gly255Ser Single submitter idiopathic generalized epilepsy ⚠
p.Gly26Arg Single submitter idiopathic generalized epilepsy
p.Gly26Ter Single submitter idiopathic generalized epilepsy
p.Gly296= Single submitter idiopathic generalized epilepsy
p.Gly297Arg Single submitter Inborn genetic diseases ⚠
p.Gly297Ser Single submitter Inborn genetic diseases ⚠
p.Gly312Cys Single submitter idiopathic generalized epilepsy ⚠
p.Gly326Val Single submitter idiopathic generalized epilepsy
p.Gly36Arg Single submitter Inborn genetic diseases ⚠
p.Gly389Arg Single submitter Inborn genetic diseases ⚠
p.His61Pro Single submitter idiopathic generalized epilepsy ⚠
p.Ile143Val Single submitter idiopathic generalized epilepsy ⚠
p.Ile28Met Single submitter idiopathic generalized epilepsy
p.Ile292Met Single submitter idiopathic generalized epilepsy ⚠
p.Ile37Val Single submitter idiopathic generalized epilepsy ⚠
p.Leu176Phe Single submitter Inborn genetic diseases ⚠
p.Leu24Val Single submitter idiopathic generalized epilepsy
p.Leu2Val Single submitter idiopathic generalized epilepsy
p.Leu330Arg Single submitter idiopathic generalized epilepsy
p.Leu8Val Single submitter idiopathic generalized epilepsy
p.Lys142Glu Single submitter idiopathic generalized epilepsy ⚠
p.Lys156Glu Single submitter Inborn genetic diseases ⚠
p.Lys199Asn Single submitter idiopathic generalized epilepsy ⚠
p.Lys210Arg Single submitter idiopathic generalized epilepsy ⚠
p.Lys328Arg Single submitter idiopathic generalized epilepsy
p.Lys367Asn Single submitter idiopathic generalized epilepsy ⚠
p.Met16Lys Single submitter idiopathic generalized epilepsy
p.Met196Ile Single submitter idiopathic generalized epilepsy ⚠
p.Met240Leu Single submitter idiopathic generalized epilepsy ⚠
p.Met240Val Single submitter Inborn genetic diseases ⚠
p.Met253Ile Single submitter Inborn genetic diseases ⚠
p.Pro19Ser Single submitter idiopathic generalized epilepsy
p.Pro204Ala Single submitter idiopathic generalized epilepsy ⚠
p.Pro204Leu Single submitter idiopathic generalized epilepsy
p.Pro204Thr Single submitter idiopathic generalized epilepsy ⚠
p.Pro257Arg Single submitter idiopathic generalized epilepsy ⚠
p.Pro25Leu Single submitter idiopathic generalized epilepsy
p.Pro288Leu Single submitter Inborn genetic diseases ⚠
p.Pro289Leu Single submitter idiopathic generalized epilepsy ⚠
p.Pro290_Pro291del Single submitter
p.Pro290Ser Single submitter Inborn genetic diseases ⚠
p.Pro290Thr Single submitter idiopathic generalized epilepsy ⚠
p.Pro291Ala Single submitter idiopathic generalized epilepsy ⚠
p.Pro291Leu Single submitter idiopathic generalized epilepsy ⚠
p.Pro291Ser Single submitter idiopathic generalized epilepsy ⚠
p.Pro293Gln Single submitter idiopathic generalized epilepsy ⚠
p.Pro321Arg Single submitter ⚠
p.Pro32Ala Single submitter idiopathic generalized epilepsy ⚠
p.Pro33Thr Single submitter Inborn genetic diseases ⚠
p.Pro362Ser Single submitter idiopathic generalized epilepsy ⚠
p.Pro46Leu Single submitter idiopathic generalized epilepsy ⚠
p.Pro59Arg Single submitter idiopathic generalized epilepsy ⚠
p.Pro67Arg Single submitter idiopathic generalized epilepsy ⚠
p.Pro68Leu Single submitter Inborn genetic diseases ⚠
p.Pro77Leu Single submitter idiopathic generalized epilepsy ⚠
p.Ser242Gly Single submitter idiopathic generalized epilepsy ⚠
p.Ser245Cys Single submitter ⚠
p.Ser330Gly Single submitter idiopathic generalized epilepsy ⚠
p.Ser76Arg Single submitter Inborn genetic diseases ⚠
p.Ser86Phe Single submitter idiopathic generalized epilepsy ⚠
p.Thr227Met Single submitter idiopathic generalized epilepsy ⚠
p.Thr278Ile Single submitter idiopathic generalized epilepsy ⚠
p.Thr322_Pro323del Single submitter idiopathic generalized epilepsy
p.Thr325Ala Single submitter idiopathic generalized epilepsy ⚠
p.Thr42Ala Single submitter idiopathic generalized epilepsy ⚠
p.Thr42Arg Single submitter idiopathic generalized epilepsy ⚠
p.Thr42Pro Single submitter idiopathic generalized epilepsy ⚠
p.Thr53Ala Single submitter idiopathic generalized epilepsy ⚠
p.Thr53Arg Single submitter idiopathic generalized epilepsy ⚠
p.Thr56Ala Single submitter idiopathic generalized epilepsy ⚠
p.Thr56Ser Single submitter idiopathic generalized epilepsy ⚠
p.Thr57Met Single submitter Inborn genetic diseases ⚠
p.Thr62Ile Single submitter idiopathic generalized epilepsy ⚠
p.Thr71Lys Single submitter idiopathic generalized epilepsy ⚠
p.Thr71Met Single submitter idiopathic generalized epilepsy ⚠
p.Thr80Ala Single submitter idiopathic generalized epilepsy ⚠
p.Thr80Lys Single submitter idiopathic generalized epilepsy ⚠
p.Tyr12Cys Single submitter idiopathic generalized epilepsy
p.Tyr12Phe Single submitter idiopathic generalized epilepsy
p.Tyr205fs Single submitter idiopathic generalized epilepsy
p.Tyr219Cys Single submitter Inborn genetic diseases
p.Tyr23Cys Single submitter idiopathic generalized epilepsy
p.Tyr23Ter Single submitter idiopathic generalized epilepsy
p.Tyr267Ter Single submitter
p.Tyr280Cys Single submitter idiopathic generalized epilepsy ⚠
p.Tyr316Ter Single submitter idiopathic generalized epilepsy
p.Tyr318Ter Single submitter idiopathic generalized epilepsy
p.Tyr66His Single submitter idiopathic generalized epilepsy
p.Val161Ile Single submitter idiopathic generalized epilepsy ⚠
p.Val180Met Single submitter idiopathic generalized epilepsy ⚠
p.Val195Ala Single submitter idiopathic generalized epilepsy ⚠
p.Val195Leu Single submitter idiopathic generalized epilepsy ⚠
p.Val202Ala Single submitter Inborn genetic diseases ⚠
p.Val202Ile Single submitter idiopathic generalized epilepsy ⚠
p.Val214Ile Single submitter idiopathic generalized epilepsy ⚠
p.Val214Phe Single submitter Inborn genetic diseases
p.Val215Gly Single submitter ⚠
p.Val215Leu Single submitter idiopathic generalized epilepsy ⚠
p.Val248Leu Single submitter idiopathic generalized epilepsy ⚠
p.Val279Met Single submitter idiopathic generalized epilepsy ⚠
p.Val318fs Single submitter idiopathic generalized epilepsy
p.Val324Leu Single submitter idiopathic generalized epilepsy