RBFOX3 — 322 ClinVar variants
All ClinVar germline RBFOX3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 124 flagged for review →
1 Pathogenic · 4 Conflicting · 13 Benign · 158 Likely benign · 146 Uncertain significance
Full RBFOX3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 124
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
RBFOX3 p.Ala324Thr
Conflicting
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Arg116Gln
Conflicting
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Gly35Ser
Conflicting
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Pro7Ser
Conflicting
Single submitter
idiopathic generalized epilepsy
Predictors lean, ClinVar uncertain 72
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
RBFOX3 p.Ala316Thr
Uncertain significance
Multiple submitters
idiopathic generalized epilepsy
-
RBFOX3 p.Ala62Val
Uncertain significance
Multiple submitters
idiopathic generalized epilepsy
-
RBFOX3 p.Ala68Thr
Uncertain significance
Multiple submitters
idiopathic generalized epilepsy
-
RBFOX3 p.Ala79Val
Uncertain significance
Multiple submitters
idiopathic generalized epilepsy
-
RBFOX3 p.Ala8Thr
Uncertain significance
Multiple submitters
idiopathic generalized epilepsy
-
RBFOX3 p.Arg230Trp
Uncertain significance
Multiple submitters
idiopathic generalized epilepsy
-
RBFOX3 p.Pro38Leu
Uncertain significance
Multiple submitters
idiopathic generalized epilepsy
-
RBFOX3 p.Pro86Leu
Uncertain significance
Multiple submitters
idiopathic generalized epilepsy
-
RBFOX3 p.Thr237Ala
Uncertain significance
Multiple submitters
idiopathic generalized epilepsy
-
RBFOX3 p.Thr30Met
Uncertain significance
Multiple submitters
idiopathic generalized epilepsy
-
RBFOX3 p.Thr37Ile
Uncertain significance
Multiple submitters
idiopathic generalized epilepsy
-
RBFOX3 p.Thr49Ala
Uncertain significance
Multiple submitters
idiopathic generalized epilepsy
-
RBFOX3 p.Thr93Ala
Uncertain significance
Multiple submitters
idiopathic generalized epilepsy
-
RBFOX3 p.Ala173Thr
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Ala221Pro
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Ala225Thr
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Ala23Val
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Ala252Glu
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Ala316Pro
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Ala317Thr
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Ala321Thr
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Ala326Val
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Ala327Val
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Ala351Thr
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Ala351Val
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Ala352Val
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Ala62Thr
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Arg109Gln
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Arg135Gln
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Asn159Ser
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Asp91Glu
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Gln3Arg
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Glu21Ala
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Glu42Asp
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Glu56Gln
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Glu56Lys
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Gly17Ser
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Gly198Asp
Uncertain significance
Single submitter
idiopathic generalized epilepsy
- RBFOX3 p.Gly229Ser Uncertain significance Single submitter
- RBFOX3 p.Gly231Ser Uncertain significance Single submitter
-
RBFOX3 p.Gly335Val
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.His88Leu
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Ile18Met
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Ile356Met
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Ile356Thr
Uncertain significance
Single submitter
idiopathic generalized epilepsy
- RBFOX3 p.Ile356Val Uncertain significance Single submitter
- RBFOX3 p.Ile67Val Uncertain significance Single submitter
-
RBFOX3 p.Leu87Pro
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Lys138Asn
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Phe211Tyr
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Pro113Ser
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Pro24Leu
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Pro25Ser
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Pro40Ser
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Pro55Leu
Uncertain significance
Single submitter
idiopathic generalized epilepsy
- RBFOX3 p.Pro74Gln Uncertain significance Single submitter
-
RBFOX3 p.Ser90Ala
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Thr188Ala
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Thr216Ala
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Thr216Ile
Uncertain significance
Single submitter
idiopathic generalized epilepsy
- RBFOX3 p.Thr353Ser Uncertain significance Single submitter
-
RBFOX3 p.Thr37Asn
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Thr41Pro
Uncertain significance
Single submitter
idiopathic generalized epilepsy
- RBFOX3 p.Thr72Ile Uncertain significance Single submitter
- RBFOX3 p.Thr76Ile Uncertain significance Single submitter
- RBFOX3 p.Tyr5Ser Uncertain significance Single submitter
-
RBFOX3 p.Val234Leu
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Val234Met
Uncertain significance
Single submitter
idiopathic generalized epilepsy
- RBFOX3 p.Val301Ala Uncertain significance Single submitter
- RBFOX3 p.Val337Ile Uncertain significance Single submitter
-
RBFOX3 p.Val73Met
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Gly120Arg
Uncertain significance
No assertion criteria
RBFOX3-related disorder
Predictors split 48
The independent predictors disagree with each other — read with care.
-
RBFOX3 p.Gln31Arg
Uncertain significance
Multiple submitters
idiopathic generalized epilepsy
-
RBFOX3 p.Glu61Lys
Uncertain significance
Multiple submitters
idiopathic generalized epilepsy
-
RBFOX3 p.Glu78Lys
Uncertain significance
Multiple submitters
idiopathic generalized epilepsy
-
RBFOX3 p.Pro12Leu
Uncertain significance
Multiple submitters
idiopathic generalized epilepsy
-
RBFOX3 p.Thr72Arg
Uncertain significance
Multiple submitters
idiopathic generalized epilepsy
-
RBFOX3 p.Thr93Arg
Uncertain significance
Multiple submitters
idiopathic generalized epilepsy
-
RBFOX3 p.Ala233Asp
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Ala240Thr
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Ala339Glu
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Arg153Gln
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Arg223Pro
Uncertain significance
Single submitter
idiopathic generalized epilepsy
- RBFOX3 p.Arg230Gln Uncertain significance Single submitter
-
RBFOX3 p.Arg319Thr
Uncertain significance
Single submitter
idiopathic generalized epilepsy
- RBFOX3 p.Asn236Asp Uncertain significance Single submitter
-
RBFOX3 p.Asp91Asn
Likely benign
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Gln85Pro
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Glu146Gln
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Glu21Lys
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Glu310Lys
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Gly202Arg
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Gly69Arg
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.His226Asn
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.His43Arg
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Leu126Phe
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Leu227Ile
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Leu227Val
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Phe238Leu
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Pro12Ala
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Pro13Leu
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Pro186Ser
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Pro186Thr
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Pro214His
Benign
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Pro245Ser
Uncertain significance
Single submitter
idiopathic generalized epilepsy
- RBFOX3 p.Pro246Ala Uncertain significance Single submitter
-
RBFOX3 p.Pro27Leu
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Pro55Arg
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Pro66His
Uncertain significance
Single submitter
idiopathic generalized epilepsy
- RBFOX3 p.Pro6Arg Uncertain significance Single submitter
-
RBFOX3 p.Pro7Leu
Uncertain significance
Single submitter
idiopathic generalized epilepsy
- RBFOX3 p.Ser34Tyr Uncertain significance Single submitter
-
RBFOX3 p.Thr353Ile
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Thr82Met
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Tyr201Cys
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Tyr206Cys
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Tyr213Cys
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Tyr222Phe
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Val103Ile
Uncertain significance
Single submitter
idiopathic generalized epilepsy
-
RBFOX3 p.Val301Leu
Uncertain significance
Single submitter
idiopathic generalized epilepsy
All RBFOX3 variants
Pathogenic 1
- p.Tyr334Ter No assertion criteria self-limited epilepsy with centrotemporal spikes
Conflicting classifications of pathogenicity 4
- p.Ala324Thr Single submitter idiopathic generalized epilepsy ⚠
- p.Arg116Gln Single submitter idiopathic generalized epilepsy ⚠
- p.Gly35Ser Single submitter idiopathic generalized epilepsy ⚠
- p.Pro7Ser Single submitter idiopathic generalized epilepsy ⚠
Benign 13
- c.568+17C>T Multiple submitters idiopathic generalized epilepsy
- c.622+6A>G Multiple submitters idiopathic generalized epilepsy
- p.Pro107= Multiple submitters idiopathic generalized epilepsy
- p.Tyr22= Multiple submitters idiopathic generalized epilepsy
- c.360+16C>T Single submitter idiopathic generalized epilepsy
- c.622+3dup Single submitter idiopathic generalized epilepsy
- c.623-4G>T Single submitter idiopathic generalized epilepsy
- c.936+15G>A Single submitter idiopathic generalized epilepsy
- c.998+13dup Single submitter idiopathic generalized epilepsy
- c.998+9G>T Single submitter idiopathic generalized epilepsy
- p.Pro214His Single submitter idiopathic generalized epilepsy ⚠
- p.Pro4Thr Single submitter idiopathic generalized epilepsy
- p.Tyr320= Single submitter idiopathic generalized epilepsy
Likely benign 158
- c.222+15G>A Multiple submitters idiopathic generalized epilepsy
- p.Ile247= Multiple submitters idiopathic generalized epilepsy
- p.Phe145= Multiple submitters idiopathic generalized epilepsy
- p.Thr183Met Multiple submitters idiopathic generalized epilepsy
- c.1077+13G>A Single submitter idiopathic generalized epilepsy
- c.1077+16C>T Single submitter idiopathic generalized epilepsy
- c.1077+17C>T Single submitter idiopathic generalized epilepsy
- c.1077+18G>A Single submitter idiopathic generalized epilepsy
- c.1077+9C>A Single submitter idiopathic generalized epilepsy
- c.1078-12T>A Single submitter idiopathic generalized epilepsy
- c.222+11C>T Single submitter idiopathic generalized epilepsy
- c.222+13A>G Single submitter idiopathic generalized epilepsy
- c.222+14C>T Single submitter idiopathic generalized epilepsy
- c.223-17C>T Single submitter idiopathic generalized epilepsy
- c.223-18C>T Single submitter idiopathic generalized epilepsy
- c.223-9del Single submitter idiopathic generalized epilepsy
- c.360+10C>T Single submitter idiopathic generalized epilepsy
- c.360+11G>A Single submitter idiopathic generalized epilepsy
- c.360+12C>T Single submitter idiopathic generalized epilepsy
- c.360+13G>A Single submitter idiopathic generalized epilepsy
- c.360+18C>T Single submitter idiopathic generalized epilepsy
- c.361-10del Single submitter idiopathic generalized epilepsy
- c.361-18_361-17del Single submitter idiopathic generalized epilepsy
- c.361-20C>G Single submitter idiopathic generalized epilepsy
- c.361-8C>T Single submitter idiopathic generalized epilepsy
- c.414+12A>C Single submitter idiopathic generalized epilepsy
- c.414+13C>T Single submitter idiopathic generalized epilepsy
- c.414+14G>A Single submitter idiopathic generalized epilepsy
- c.414+17G>A Single submitter idiopathic generalized epilepsy
- c.414+9C>T Single submitter idiopathic generalized epilepsy
- c.415-15C>G Single submitter idiopathic generalized epilepsy
- c.415-17C>T Single submitter idiopathic generalized epilepsy
- c.415-4A>G Single submitter idiopathic generalized epilepsy
- c.415-9T>C Single submitter idiopathic generalized epilepsy
- c.508-25TC[3] Single submitter idiopathic generalized epilepsy
- c.508-7dup Single submitter idiopathic generalized epilepsy
- c.568+13G>T Single submitter idiopathic generalized epilepsy
- c.568+15C>G Single submitter idiopathic generalized epilepsy
- c.568+16_568+17insT Single submitter idiopathic generalized epilepsy
- c.568+16C>A Single submitter idiopathic generalized epilepsy
- c.568+18C>T Single submitter idiopathic generalized epilepsy
- c.568+7G>A Single submitter idiopathic generalized epilepsy
- c.568+8G>T Single submitter idiopathic generalized epilepsy
- c.569-14T>G Single submitter idiopathic generalized epilepsy
- c.569-18T>C Single submitter idiopathic generalized epilepsy
- c.622+13G>T Single submitter idiopathic generalized epilepsy
- c.622+14C>A Single submitter idiopathic generalized epilepsy
- c.622+14C>T Single submitter idiopathic generalized epilepsy
- c.622+18G>A Single submitter idiopathic generalized epilepsy
- c.622+19C>A Single submitter idiopathic generalized epilepsy
- c.623-11G>C Single submitter idiopathic generalized epilepsy
- c.623-13C>T Single submitter idiopathic generalized epilepsy
- c.623-6C>T Single submitter idiopathic generalized epilepsy
- c.623-7C>A Single submitter idiopathic generalized epilepsy
- c.623-7C>T Single submitter idiopathic generalized epilepsy
- c.755+14C>T Single submitter idiopathic generalized epilepsy
- c.755+15C>T Single submitter idiopathic generalized epilepsy
- c.755+16G>A Single submitter idiopathic generalized epilepsy
- c.755+18G>A Single submitter idiopathic generalized epilepsy
- c.755+9C>T Single submitter idiopathic generalized epilepsy
- c.936+14C>A Single submitter idiopathic generalized epilepsy
- c.936+15G>C Single submitter idiopathic generalized epilepsy
- c.936+17C>A Single submitter idiopathic generalized epilepsy
- c.936+17C>T Single submitter idiopathic generalized epilepsy
- c.936+18G>A Single submitter idiopathic generalized epilepsy
- c.936+18G>T Single submitter idiopathic generalized epilepsy
- c.937-10T>C Single submitter idiopathic generalized epilepsy
- c.937-17_937-15del Single submitter idiopathic generalized epilepsy
- c.937-19C>T Single submitter idiopathic generalized epilepsy
- c.937-8C>T Single submitter idiopathic generalized epilepsy
- c.998+12G>A Single submitter idiopathic generalized epilepsy
- c.998+13G>A Single submitter idiopathic generalized epilepsy
- c.998+7C>T Single submitter idiopathic generalized epilepsy
- c.998+8C>G Single submitter idiopathic generalized epilepsy
- c.998+8C>T Single submitter idiopathic generalized epilepsy
- c.998+9G>A Single submitter idiopathic generalized epilepsy
- c.999-12G>A Single submitter idiopathic generalized epilepsy
- c.999-13C>T Single submitter idiopathic generalized epilepsy
- c.999-19C>G Single submitter idiopathic generalized epilepsy
- c.999-20C>G Single submitter idiopathic generalized epilepsy
- c.999-24_999-13dup Single submitter idiopathic generalized epilepsy
- c.999-39_999-15del Single submitter idiopathic generalized epilepsy
- p.Ala151= Single submitter idiopathic generalized epilepsy
- p.Ala20= Single submitter idiopathic generalized epilepsy
- p.Ala219= Single submitter idiopathic generalized epilepsy
- p.Ala233= Single submitter idiopathic generalized epilepsy
- p.Ala326= Single submitter idiopathic generalized epilepsy
- p.Ala327= Single submitter idiopathic generalized epilepsy
- p.Ala328= Single submitter idiopathic generalized epilepsy
- p.Ala341= Single submitter idiopathic generalized epilepsy
- p.Ala351= Single submitter idiopathic generalized epilepsy
- p.Ala352= Single submitter idiopathic generalized epilepsy
- p.Ala68= Single submitter idiopathic generalized epilepsy
- p.Ala79= Single submitter idiopathic generalized epilepsy
- p.Ala80= Single submitter idiopathic generalized epilepsy
- p.Arg155= Single submitter idiopathic generalized epilepsy
- p.Arg166= Single submitter idiopathic generalized epilepsy
- p.Arg232= Single submitter idiopathic generalized epilepsy
- p.Asn133= Single submitter idiopathic generalized epilepsy
- p.Asn16= Single submitter idiopathic generalized epilepsy
- p.Asn189= Single submitter idiopathic generalized epilepsy
- p.Asp114= Single submitter idiopathic generalized epilepsy
- p.Asp127= Single submitter idiopathic generalized epilepsy
- p.Asp304= Single submitter idiopathic generalized epilepsy
- p.Asp91Asn Single submitter idiopathic generalized epilepsy ⚠
- p.Gln3= Single submitter idiopathic generalized epilepsy
- p.Gln85= Single submitter idiopathic generalized epilepsy
- p.Glu21= Single submitter idiopathic generalized epilepsy
- p.Gly141= Single submitter idiopathic generalized epilepsy
- p.Gly184= Single submitter idiopathic generalized epilepsy
- p.Gly198= Single submitter idiopathic generalized epilepsy
- p.Gly217= Single submitter idiopathic generalized epilepsy
- p.Gly229= Single submitter idiopathic generalized epilepsy
- p.Gly314= Single submitter idiopathic generalized epilepsy
- p.Gly335= Single submitter idiopathic generalized epilepsy
- p.Gly35= Single submitter idiopathic generalized epilepsy
- p.His102= Single submitter idiopathic generalized epilepsy
- p.His54= Single submitter idiopathic generalized epilepsy
- p.Ile130= Single submitter idiopathic generalized epilepsy
- p.Ile348= Single submitter
- p.Ile67= Single submitter idiopathic generalized epilepsy
- p.Leu101= Single submitter idiopathic generalized epilepsy
- p.Leu115= Single submitter idiopathic generalized epilepsy
- p.Leu47= Single submitter idiopathic generalized epilepsy
- p.Phe119= Single submitter idiopathic generalized epilepsy
- p.Pro11= Single submitter idiopathic generalized epilepsy
- p.Pro113= Single submitter idiopathic generalized epilepsy
- p.Pro13= Single submitter idiopathic generalized epilepsy
- p.Pro24= Single submitter idiopathic generalized epilepsy
- p.Pro245= Single submitter idiopathic generalized epilepsy
- p.Pro246= Single submitter idiopathic generalized epilepsy
- p.Pro29= Single submitter idiopathic generalized epilepsy
- p.Pro323= Single submitter idiopathic generalized epilepsy
- p.Pro343= Single submitter idiopathic generalized epilepsy
- p.Pro38= Single submitter idiopathic generalized epilepsy
- p.Pro55= Single submitter idiopathic generalized epilepsy
- p.Pro7= Single submitter idiopathic generalized epilepsy
- p.Pro86= Single submitter idiopathic generalized epilepsy
- p.Ser331= Single submitter idiopathic generalized epilepsy
- p.Ser34= Single submitter idiopathic generalized epilepsy
- p.Ser60= Single submitter idiopathic generalized epilepsy
- p.Thr174= Single submitter idiopathic generalized epilepsy
- p.Thr183= Single submitter idiopathic generalized epilepsy
- p.Thr215= Single submitter idiopathic generalized epilepsy
- p.Thr216= Single submitter idiopathic generalized epilepsy
- p.Thr30= Single submitter idiopathic generalized epilepsy
- p.Tyr10= Single submitter idiopathic generalized epilepsy
- p.Tyr201= Single submitter idiopathic generalized epilepsy
- p.Tyr250= Single submitter idiopathic generalized epilepsy
- p.Tyr315= Single submitter idiopathic generalized epilepsy
- p.Tyr318= Single submitter idiopathic generalized epilepsy
- p.Tyr334= Single submitter idiopathic generalized epilepsy
- p.Tyr338= Single submitter idiopathic generalized epilepsy
- p.Tyr354= Single submitter idiopathic generalized epilepsy
- p.Val163= Single submitter idiopathic generalized epilepsy
- p.Val177= Single submitter idiopathic generalized epilepsy
- p.Val301= Single submitter idiopathic generalized epilepsy
- c.-10G>A No assertion criteria RBFOX3-related disorder
Uncertain significance 146
- p.Ala316Thr Multiple submitters idiopathic generalized epilepsy ⚠
- p.Ala62Val Multiple submitters idiopathic generalized epilepsy ⚠
- p.Ala68Thr Multiple submitters idiopathic generalized epilepsy ⚠
- p.Ala79Val Multiple submitters idiopathic generalized epilepsy ⚠
- p.Ala8Thr Multiple submitters idiopathic generalized epilepsy ⚠
- p.Arg230Trp Multiple submitters idiopathic generalized epilepsy ⚠
- p.Gln31Arg Multiple submitters idiopathic generalized epilepsy ⚠
- p.Glu61Lys Multiple submitters idiopathic generalized epilepsy ⚠
- p.Glu78Lys Multiple submitters idiopathic generalized epilepsy ⚠
- p.Pro12Leu Multiple submitters idiopathic generalized epilepsy ⚠
- p.Pro38Leu Multiple submitters idiopathic generalized epilepsy ⚠
- p.Pro86Leu Multiple submitters idiopathic generalized epilepsy ⚠
- p.Thr237Ala Multiple submitters idiopathic generalized epilepsy ⚠
- p.Thr30Met Multiple submitters idiopathic generalized epilepsy ⚠
- p.Thr37Ile Multiple submitters idiopathic generalized epilepsy ⚠
- p.Thr49Ala Multiple submitters idiopathic generalized epilepsy ⚠
- p.Thr72Arg Multiple submitters idiopathic generalized epilepsy ⚠
- p.Thr93Ala Multiple submitters idiopathic generalized epilepsy ⚠
- p.Thr93Arg Multiple submitters idiopathic generalized epilepsy ⚠
- c.1077+6G>A Single submitter idiopathic generalized epilepsy
- c.1078-3T>C Single submitter idiopathic generalized epilepsy
- c.222+5G>A Single submitter idiopathic generalized epilepsy
- c.223-9_223-8del Single submitter idiopathic generalized epilepsy
- c.361-8_361-3del Single submitter idiopathic generalized epilepsy
- c.568+3A>G Single submitter idiopathic generalized epilepsy
- c.568+5G>C Single submitter idiopathic generalized epilepsy
- c.568+6G>A Single submitter idiopathic generalized epilepsy
- c.568+6G>C Single submitter idiopathic generalized epilepsy
- c.623-17G>A Single submitter idiopathic generalized epilepsy
- c.936+2del Single submitter idiopathic generalized epilepsy
- c.999-9C>G Single submitter idiopathic generalized epilepsy
- p.229GR[1] Single submitter idiopathic generalized epilepsy
- p.Ala173Thr Single submitter idiopathic generalized epilepsy ⚠
- p.Ala221Pro Single submitter idiopathic generalized epilepsy ⚠
- p.Ala225Thr Single submitter idiopathic generalized epilepsy ⚠
- p.Ala233Asp Single submitter idiopathic generalized epilepsy ⚠
- p.Ala23Val Single submitter idiopathic generalized epilepsy ⚠
- p.Ala240Thr Single submitter idiopathic generalized epilepsy ⚠
- p.Ala252Glu Single submitter idiopathic generalized epilepsy ⚠
- p.Ala316Pro Single submitter idiopathic generalized epilepsy ⚠
- p.Ala317Thr Single submitter idiopathic generalized epilepsy ⚠
- p.Ala321Thr Single submitter idiopathic generalized epilepsy ⚠
- p.Ala326Val Single submitter idiopathic generalized epilepsy ⚠
- p.Ala327Val Single submitter idiopathic generalized epilepsy ⚠
- p.Ala339Glu Single submitter idiopathic generalized epilepsy ⚠
- p.Ala341Asp Single submitter idiopathic generalized epilepsy
- p.Ala351Thr Single submitter idiopathic generalized epilepsy ⚠
- p.Ala351Val Single submitter idiopathic generalized epilepsy ⚠
- p.Ala352Val Single submitter idiopathic generalized epilepsy ⚠
- p.Ala62Thr Single submitter idiopathic generalized epilepsy ⚠
- p.Arg109Gln Single submitter idiopathic generalized epilepsy ⚠
- p.Arg135Gln Single submitter idiopathic generalized epilepsy ⚠
- p.Arg153Gln Single submitter idiopathic generalized epilepsy ⚠
- p.Arg153Gly Single submitter idiopathic generalized epilepsy
- p.Arg223Pro Single submitter idiopathic generalized epilepsy ⚠
- p.Arg230Gln Single submitter ⚠
- p.Arg232_Ala233insGlyArg Single submitter idiopathic generalized epilepsy
- p.Arg319Thr Single submitter idiopathic generalized epilepsy ⚠
- p.Asn159Ser Single submitter idiopathic generalized epilepsy ⚠
- p.Asn236Asp Single submitter ⚠
- p.Asp342Asn Single submitter
- p.Asp83= Single submitter
- p.Asp91Glu Single submitter idiopathic generalized epilepsy ⚠
- p.Gln3Arg Single submitter idiopathic generalized epilepsy ⚠
- p.Gln85Pro Single submitter idiopathic generalized epilepsy ⚠
- p.Glu146Gln Single submitter idiopathic generalized epilepsy ⚠
- p.Glu21Ala Single submitter idiopathic generalized epilepsy ⚠
- p.Glu21Lys Single submitter idiopathic generalized epilepsy ⚠
- p.Glu310Lys Single submitter idiopathic generalized epilepsy ⚠
- p.Glu42Asp Single submitter idiopathic generalized epilepsy ⚠
- p.Glu56Gln Single submitter idiopathic generalized epilepsy ⚠
- p.Glu56Lys Single submitter idiopathic generalized epilepsy ⚠
- p.Gly17Ser Single submitter idiopathic generalized epilepsy ⚠
- p.Gly198Asp Single submitter idiopathic generalized epilepsy ⚠
- p.Gly202Arg Single submitter idiopathic generalized epilepsy ⚠
- p.Gly229Ser Single submitter ⚠
- p.Gly231Ser Single submitter ⚠
- p.Gly251fs Single submitter idiopathic generalized epilepsy
- p.Gly335Val Single submitter idiopathic generalized epilepsy ⚠
- p.Gly69Arg Single submitter idiopathic generalized epilepsy ⚠
- p.His226Asn Single submitter idiopathic generalized epilepsy ⚠
- p.His43Arg Single submitter idiopathic generalized epilepsy ⚠
- p.His88Leu Single submitter idiopathic generalized epilepsy ⚠
- p.Ile18Met Single submitter idiopathic generalized epilepsy ⚠
- p.Ile356Met Single submitter idiopathic generalized epilepsy ⚠
- p.Ile356Thr Single submitter idiopathic generalized epilepsy ⚠
- p.Ile356Val Single submitter ⚠
- p.Ile67Val Single submitter ⚠
- p.Leu126Phe Single submitter idiopathic generalized epilepsy ⚠
- p.Leu227Ile Single submitter idiopathic generalized epilepsy ⚠
- p.Leu227Val Single submitter idiopathic generalized epilepsy ⚠
- p.Leu47Arg Single submitter
- p.Leu87Pro Single submitter idiopathic generalized epilepsy ⚠
- p.Lys138Asn Single submitter idiopathic generalized epilepsy ⚠
- p.Lys182del Single submitter idiopathic generalized epilepsy
- p.Phe211Tyr Single submitter idiopathic generalized epilepsy ⚠
- p.Phe238Leu Single submitter idiopathic generalized epilepsy ⚠
- p.Pro113Ser Single submitter idiopathic generalized epilepsy ⚠
- p.Pro12Ala Single submitter idiopathic generalized epilepsy ⚠
- p.Pro13Arg Single submitter idiopathic generalized epilepsy
- p.Pro13fs Single submitter idiopathic generalized epilepsy
- p.Pro13Leu Single submitter idiopathic generalized epilepsy ⚠
- p.Pro186Ser Single submitter idiopathic generalized epilepsy ⚠
- p.Pro186Thr Single submitter idiopathic generalized epilepsy ⚠
- p.Pro245Ser Single submitter idiopathic generalized epilepsy ⚠
- p.Pro246Ala Single submitter ⚠
- p.Pro24Leu Single submitter idiopathic generalized epilepsy ⚠
- p.Pro25Ser Single submitter idiopathic generalized epilepsy ⚠
- p.Pro27Leu Single submitter idiopathic generalized epilepsy ⚠
- p.Pro343Arg Single submitter idiopathic generalized epilepsy
- p.Pro343Leu Single submitter idiopathic generalized epilepsy
- p.Pro40Ser Single submitter idiopathic generalized epilepsy ⚠
- p.Pro55Arg Single submitter idiopathic generalized epilepsy ⚠
- p.Pro55Leu Single submitter idiopathic generalized epilepsy ⚠
- p.Pro66His Single submitter idiopathic generalized epilepsy ⚠
- p.Pro6Arg Single submitter ⚠
- p.Pro74= Single submitter idiopathic generalized epilepsy
- p.Pro74Gln Single submitter ⚠
- p.Pro7Leu Single submitter idiopathic generalized epilepsy ⚠
- p.Ser34Tyr Single submitter ⚠
- p.Ser90Ala Single submitter idiopathic generalized epilepsy ⚠
- p.Thr188Ala Single submitter idiopathic generalized epilepsy ⚠
- p.Thr216Ala Single submitter idiopathic generalized epilepsy ⚠
- p.Thr216Ile Single submitter idiopathic generalized epilepsy ⚠
- p.Thr353Ile Single submitter idiopathic generalized epilepsy ⚠
- p.Thr353Ser Single submitter ⚠
- p.Thr37Asn Single submitter idiopathic generalized epilepsy ⚠
- p.Thr41Pro Single submitter idiopathic generalized epilepsy ⚠
- p.Thr72Ile Single submitter ⚠
- p.Thr76Ile Single submitter ⚠
- p.Thr82Met Single submitter idiopathic generalized epilepsy ⚠
- p.Tyr201Cys Single submitter idiopathic generalized epilepsy ⚠
- p.Tyr206Cys Single submitter idiopathic generalized epilepsy ⚠
- p.Tyr213Cys Single submitter idiopathic generalized epilepsy ⚠
- p.Tyr222Phe Single submitter idiopathic generalized epilepsy ⚠
- p.Tyr250Ter Single submitter idiopathic generalized epilepsy
- p.Tyr320Ter Single submitter idiopathic generalized epilepsy
- p.Tyr5Ser Single submitter ⚠
- p.Val103Ile Single submitter idiopathic generalized epilepsy ⚠
- p.Val234Leu Single submitter idiopathic generalized epilepsy ⚠
- p.Val234Met Single submitter idiopathic generalized epilepsy ⚠
- p.Val301Ala Single submitter ⚠
- p.Val301Leu Single submitter idiopathic generalized epilepsy ⚠
- p.Val337Ile Single submitter ⚠
- p.Val73Met Single submitter idiopathic generalized epilepsy ⚠
- p.Gly120Arg No assertion criteria RBFOX3-related disorder ⚠