GABRB3 — 758 ClinVar variants
All ClinVar germline GABRB3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 282 flagged for review →
36 Pathogenic · 15 Pathogenic/Likely pathogenic · 53 Likely pathogenic · 32 Conflicting · 47 Benign · 11 Benign/Likely benign · 255 Likely benign · 309 Uncertain significance
Full GABRB3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 282
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.
-
GABRB3 p.Ile255Val
Likely pathogenic
Single submitter
GABRB3-related disorder
Predictors agree, ClinVar conflicts 21
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
GABRB3 p.Ala98Thr
Conflicting
Single submitter
developmental and epileptic encephalopathy, 43
-
GABRB3 p.Arg217His
Conflicting
Single submitter
developmental and epileptic encephalopathy, 43
-
GABRB3 p.Arg238Gln
Conflicting
Single submitter
Inborn genetic diseases
-
GABRB3 p.Arg275Thr
Conflicting
Single submitter
developmental and epileptic encephalopathy, 43
-
GABRB3 p.Arg360Trp
Conflicting
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Arg414Gln
Conflicting
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Arg429Gln
Conflicting
Single submitter
epilepsy, childhood absence, susceptibility to, 5
-
GABRB3 p.Arg51Ser
Conflicting
Single submitter
developmental and epileptic encephalopathy, 43
-
GABRB3 p.Asn110Ser
Conflicting
Single submitter
epilepsy, childhood absence, susceptibility to, 5
-
GABRB3 p.Asn376Ser
Conflicting
Single submitter
intellectual disability
-
GABRB3 p.Asp197Asn
Conflicting
Single submitter
Inborn genetic diseases
-
GABRB3 p.Lys127Arg
Conflicting
Single submitter
epilepsy, childhood absence, susceptibility to, 5
-
GABRB3 p.Met163Val
Conflicting
Single submitter
epilepsy, childhood absence, susceptibility to, 5
-
GABRB3 p.Met80Arg
Conflicting
Single submitter
GABRB3-related disorder
-
GABRB3 p.Met80Thr
Conflicting
Single submitter
epilepsy, childhood absence, susceptibility to, 5
-
GABRB3 p.Pro422Leu
Conflicting
Single submitter
Inborn genetic diseases
-
GABRB3 p.Thr186Met
Conflicting
Single submitter
developmental and epileptic encephalopathy, 43
-
GABRB3 p.Thr281Ala
Conflicting
Single submitter
developmental and epileptic encephalopathy, 1
-
GABRB3 p.Thr288Ala
Conflicting
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Tyr302Phe
Conflicting
Single submitter
Inborn genetic diseases
-
GABRB3 p.Tyr471Cys
Conflicting
Single submitter
epilepsy, childhood absence, susceptibility to, 1
Predicted LoF vs a conflicting call 1
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
-
GABRB3 p.Arg232Ter
Conflicting
Single submitter
epilepsy, childhood absence, susceptibility to, 5
Predictors lean, ClinVar uncertain 205
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 205
-
GABRB3 p.Ala20Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GABRB3 p.Ala226Thr
Uncertain significance
Multiple submitters
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Ala25Ser
Uncertain significance
Multiple submitters
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Arg142Cys
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 43
-
GABRB3 p.Arg142His
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 43
-
GABRB3 p.Arg194Gln
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 43
-
GABRB3 p.Arg217Cys
Uncertain significance
Multiple submitters
epilepsy, childhood absence, susceptibility to, 5
-
GABRB3 p.Asn174Lys
Uncertain significance
Multiple submitters
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Asn351Ser
Uncertain significance
Multiple submitters
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Asn366Ser
Uncertain significance
Multiple submitters
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Asp146Ala
Uncertain significance
Multiple submitters
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Asp49Glu
Uncertain significance
Multiple submitters
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Asp94Glu
Uncertain significance
Multiple submitters
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Glu323Lys
Uncertain significance
Multiple submitters
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Gly32Arg
Uncertain significance
Multiple submitters
epilepsy, childhood absence, susceptibility to, 5
-
GABRB3 p.Ile213Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GABRB3 p.Ile385Val
Uncertain significance
Multiple submitters
epilepsy, childhood absence, susceptibility to, 5
-
GABRB3 p.Leu9Pro
Uncertain significance
Multiple submitters
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Lys345Glu
Uncertain significance
Multiple submitters
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Lys46Gln
Uncertain significance
Multiple submitters
epilepsy, childhood absence, susceptibility to, 5
-
GABRB3 p.Met162Ile
Uncertain significance
Multiple submitters
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Phe10Tyr
Uncertain significance
Multiple submitters
epilepsy, childhood absence, susceptibility to, 5
-
GABRB3 p.Phe332Ser
Uncertain significance
Multiple submitters
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Pro145Arg
Uncertain significance
Multiple submitters
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Pro169Leu
Uncertain significance
Multiple submitters
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Pro59Ser
Uncertain significance
Multiple submitters
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Thr176Ala
Uncertain significance
Multiple submitters
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Thr443Ser
Uncertain significance
Multiple submitters
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Tyr182His
Uncertain significance
Multiple submitters
epilepsy, childhood absence, susceptibility to, 5
-
GABRB3 p.Tyr82Ser
Uncertain significance
Multiple submitters
epilepsy, childhood absence, susceptibility to, 5
-
GABRB3 p.Val214Met
Uncertain significance
Multiple submitters
epilepsy, childhood absence, susceptibility to, 5
-
GABRB3 p.Val21Leu
Uncertain significance
Multiple submitters
epilepsy, childhood absence, susceptibility to, 5
-
GABRB3 p.Val315Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GABRB3 p.Val455Met
Uncertain significance
Multiple submitters
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Ala20Ser
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Ala20Thr
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
- GABRB3 p.Ala274Val Uncertain significance Single submitter
-
GABRB3 p.Ala347Asp
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Ala447Val
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 43
-
GABRB3 p.Ala5Pro
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 5
-
GABRB3 p.Ala70Ser
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
- GABRB3 p.Ala98Ser Uncertain significance Single submitter
-
GABRB3 p.Arg111Gln
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Arg139Cys
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Arg139His
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Arg139Leu
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
- GABRB3 p.Arg232Leu Uncertain significance Single submitter
-
GABRB3 p.Arg275Ile
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Arg294Trp
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 5
-
GABRB3 p.Arg360Gly
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
- GABRB3 p.Arg389Ser Uncertain significance Single submitter
-
GABRB3 p.Arg409Gln
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 5
- GABRB3 p.Arg414Leu Uncertain significance Single submitter
-
GABRB3 p.Arg51Gly
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 43
-
GABRB3 p.Asn110His
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Asn138Lys
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Asn138Thr
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Asn268Lys
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Asn29Lys
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Asn376Thr
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 5
-
GABRB3 p.Asn379Ser
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 5
- GABRB3 p.Asn397His Uncertain significance Single submitter
-
GABRB3 p.Asn473Lys
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 5
- GABRB3 p.Asn473Thr Uncertain significance Single submitter
-
GABRB3 p.Asp126Asn
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
- GABRB3 p.Asp171Glu Uncertain significance Single submitter
-
GABRB3 p.Asp188Val
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 5
- GABRB3 p.Asp270Gly Uncertain significance Single submitter
-
GABRB3 p.Asp30Ala
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Asp30Glu
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
- GABRB3 p.Asp352Ala Uncertain significance Single submitter
-
GABRB3 p.Asp418Gly
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
- GABRB3 p.Asp441Asn Uncertain significance Single submitter
-
GABRB3 p.Asp444Gly
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Asp49Asn
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Asp73His
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Cys175Trp
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Cys62Gly
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Gln401His
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Gln434His
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Glu172Gln
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 5
-
GABRB3 p.Glu344Lys
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 5
-
GABRB3 p.Glu357Ala
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Glu377Ala
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
- GABRB3 p.Glu377Lys Uncertain significance Single submitter
-
GABRB3 p.Glu380Ala
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 5
-
GABRB3 p.Glu380Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GABRB3 p.Glu39Val
Uncertain significance
Single submitter
Inborn genetic diseases
- GABRB3 p.Gly11Asp Uncertain significance Single submitter
- GABRB3 p.Gly147Glu Uncertain significance Single submitter
-
GABRB3 p.Gly202Arg
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Gly228Arg
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 43
-
GABRB3 p.Gly279Arg
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
- GABRB3 p.Gly312Asp Uncertain significance Single submitter
-
GABRB3 p.Gly383Asp
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 5
- GABRB3 p.Gly384Cys Uncertain significance Single submitter
-
GABRB3 p.Gly384Val
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 5
-
GABRB3 p.Gly3Val
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 43
- GABRB3 p.Gly413Arg Uncertain significance Single submitter
-
GABRB3 p.Gly417Arg
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Gly417Glu
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Gly58Val
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Gly64Arg
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 5
-
GABRB3 p.Gly64Glu
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 5
- GABRB3 p.Gly6Arg Uncertain significance Single submitter
- GABRB3 p.Gly6Glu Uncertain significance Single submitter
-
GABRB3 p.His132Tyr
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.His364Tyr
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 5
-
GABRB3 p.His412Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GABRB3 p.His427Arg
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 43
- GABRB3 p.Ile102Leu Uncertain significance Single submitter
-
GABRB3 p.Ile12Val
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 5
-
GABRB3 p.Ile267Val
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 5
- GABRB3 p.Ile300Leu Uncertain significance Single submitter
-
GABRB3 p.Ile330Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GABRB3 p.Ile367Val
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 5
-
GABRB3 p.Ile393Met
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Ile393Thr
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 5
-
GABRB3 p.Ile448Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
GABRB3 p.Ile454Met
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Leu104Phe
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 5
-
GABRB3 p.Leu104Pro
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 5
-
GABRB3 p.Leu106Phe
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
- GABRB3 p.Leu116Arg Uncertain significance Single submitter
-
GABRB3 p.Leu143Arg
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 5
-
GABRB3 p.Leu153Pro
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 5
-
GABRB3 p.Leu208Phe
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Leu233Pro
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 43
- GABRB3 p.Leu256Pro Uncertain significance Single submitter
-
GABRB3 p.Leu293Pro
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Leu322Pro
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 43
-
GABRB3 p.Leu369Val
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Leu416Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
GABRB3 p.Leu435Val
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
- GABRB3 p.Leu44Met Uncertain significance Single submitter
-
GABRB3 p.Leu462Pro
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Leu462Val
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Leu4Arg
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 5
-
GABRB3 p.Lys198Asn
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Lys198Thr
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Lys240Arg
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Lys299Arg
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Lys304Glu
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Lys348Glu
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 43
-
GABRB3 p.Lys425Thr
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
- GABRB3 p.Lys43Arg Uncertain significance Single submitter
-
GABRB3 p.Met162Val
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 43
- GABRB3 p.Met308Val Uncertain significance Single submitter
-
GABRB3 p.Met407Ile
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Met407Val
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 5
Predictors split 54
The independent predictors disagree with each other — read with care.
-
GABRB3 p.Ala160Val
Uncertain significance
Multiple submitters
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Ala320Thr
Uncertain significance
Multiple submitters
epilepsy, childhood absence, susceptibility to, 5
-
GABRB3 p.Arg294Gln
Uncertain significance
Multiple submitters
epilepsy, childhood absence, susceptibility to, 5
-
GABRB3 p.Asn268Ser
Uncertain significance
Multiple submitters
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Glu77Gln
Likely pathogenic
Multiple submitters
developmental and epileptic encephalopathy, 43
-
GABRB3 p.Gly57Arg
Uncertain significance
Multiple submitters
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Lys341Asn
Uncertain significance
Multiple submitters
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Met140Val
Uncertain significance
Multiple submitters
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Pro103His
Uncertain significance
Multiple submitters
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Arg353Cys
Likely benign
Single submitter
epilepsy, childhood absence, susceptibility to, 5
-
GABRB3 p.Arg429Trp
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Asn290His
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Asp197Tyr
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 43
- GABRB3 p.Asp81Val Uncertain significance Single submitter
- GABRB3 p.Glu178Asp Likely pathogenic Single submitter
- GABRB3 p.Glu207Lys Uncertain significance Single submitter
-
GABRB3 p.Glu77Asp
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Gly152Arg
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
- GABRB3 p.Ile141Val Uncertain significance Single submitter
- GABRB3 p.Ile189Thr Uncertain significance Single submitter
-
GABRB3 p.Ile243Thr
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 43
-
GABRB3 p.Ile289Thr
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 5
-
GABRB3 p.Ile300Val
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
- GABRB3 p.Ile306Val Conflicting Single submitter
-
GABRB3 p.Ile367Thr
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
- GABRB3 p.Leu116Val Uncertain significance Single submitter
- GABRB3 p.Leu170Arg Likely pathogenic Single submitter
- GABRB3 p.Leu248Val Uncertain significance Single submitter
-
GABRB3 p.Leu260Met
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Leu52Ile
Likely pathogenic
Single submitter
developmental and epileptic encephalopathy, 43
-
GABRB3 p.Lys341Gln
Likely benign
Single submitter
epilepsy, childhood absence, susceptibility to, 5
-
GABRB3 p.Lys404Ile
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
- GABRB3 p.Met162Thr Likely pathogenic Single submitter
-
GABRB3 p.Met252Ile
Conflicting
Single submitter
epilepsy
-
GABRB3 p.Met308Arg
Pathogenic
Single submitter
epilepsy, childhood absence, susceptibility to, 5
-
GABRB3 p.Met311Thr
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
- GABRB3 p.Met74Thr Uncertain significance Single submitter
-
GABRB3 p.Phe225Ser
Pathogenic
Single submitter
Inborn genetic diseases
-
GABRB3 p.Phe225Val
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Phe56Ser
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 5
-
GABRB3 p.Pro103Ser
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 5
- GABRB3 p.Pro301Ala Uncertain significance Single submitter
-
GABRB3 p.Pro301Ser
Pathogenic
Single submitter
Neurodevelopmental delay
-
GABRB3 p.Ser220Leu
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 5
-
GABRB3 p.Ser234Leu
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Thr201Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
GABRB3 p.Thr40Ala
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 1
-
GABRB3 p.Thr40Met
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 5
- GABRB3 p.Val134Met Likely pathogenic Single submitter
-
GABRB3 p.Val136Met
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 43
-
GABRB3 p.Val315Phe
Uncertain significance
Single submitter
epilepsy, childhood absence, susceptibility to, 5
-
GABRB3 p.Ala160Glu
Uncertain significance
No assertion criteria
myoepithelial tumor
-
GABRB3 p.Phe225Leu
Pathogenic
No assertion criteria
developmental and epileptic encephalopathy, 43
-
GABRB3 p.Tyr182Phe
Pathogenic
No assertion criteria
developmental and epileptic encephalopathy, 43
All GABRB3 variants
Pathogenic 36
- p.Arg111Ter Multiple submitters developmental and epileptic encephalopathy, 43
- p.Arg194Ter Multiple submitters developmental and epileptic encephalopathy, 43
- p.Thr135_Val136insTer Multiple submitters epilepsy, childhood absence, susceptibility to, 5
- p.Thr185Ile Multiple submitters epilepsy, childhood absence, susceptibility to, 5
- p.Tyr168Ter Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- c.172+1del Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.240+2T>C Single submitter
- p.Ala273Thr Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Arg167Ter Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Asn125fs Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Asp120Glu Single submitter developmental and epileptic encephalopathy, 43
- p.Asp352fs Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Gln26Ter Single submitter developmental and epileptic encephalopathy, 43
- p.Glu77Lys Single submitter
- p.Leu248Arg Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Leu310Arg Single submitter developmental and epileptic encephalopathy, 43
- p.Lys299Gln Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Met308Arg Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Met80Leu Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Met80Lys Single submitter
- p.Met80Val Single submitter developmental and epileptic encephalopathy, 43
- p.Phe225Ser Single submitter Inborn genetic diseases ⚠
- p.Pro16fs Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Pro301Ser Single submitter Neurodevelopmental delay ⚠
- p.Thr287Ile Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Trp13Ter Single submitter
- p.Trp266fs Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Trp2Ter Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Tyr151fs Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Tyr184His Single submitter
- p.Tyr309Ter Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Tyr329Ter Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Val136fs Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Gln249Lys No assertion criteria developmental and epileptic encephalopathy, 43
- p.Phe225Leu No assertion criteria developmental and epileptic encephalopathy, 43 ⚠
- p.Tyr182Phe No assertion criteria developmental and epileptic encephalopathy, 43 ⚠
Pathogenic/Likely pathogenic 15
- p.Ala305Val Multiple submitters developmental and epileptic encephalopathy, 43
- p.Arg232Gln Multiple submitters intellectual disability
- p.Arg96Ser Multiple submitters GABRB3-related disorder
- p.Asn110Asp Multiple submitters Inborn genetic diseases
- p.Asp120Asn Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- p.Leu124Phe Multiple submitters Epileptic encephalopathy
- p.Leu52Val Multiple submitters developmental and epileptic encephalopathy, 43
- p.Lys304Arg Multiple submitters developmental and epileptic encephalopathy, 43
- p.Pro253Leu Multiple submitters developmental and epileptic encephalopathy, 43
- p.Pro253Thr Multiple submitters Inborn genetic diseases
- p.Ser254Phe Multiple submitters epilepsy, childhood absence, susceptibility to, 5
- p.Thr157Met Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- p.Thr288Ile Multiple submitters epilepsy, childhood absence, susceptibility to, 5
- p.Tyr184Cys Multiple submitters epilepsy, childhood absence, susceptibility to, 5
- p.Tyr302Cys Multiple submitters GABRB3-related disorder
Likely pathogenic 53
- c.1080+1G>A Multiple submitters Inborn genetic diseases
- p.Glu77Gln Multiple submitters developmental and epileptic encephalopathy, 43 ⚠
- p.Ile280Phe Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- p.Pro301Leu Multiple submitters developmental and epileptic encephalopathy, 43
- c.173-2A>C Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.173-2A>T Single submitter developmental and epileptic encephalopathy, 43
- c.241-1G>A Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.545-2A>G Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.682+1G>A Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Ala273Val Single submitter developmental and epileptic encephalopathy, 43
- p.Ala305Asp Single submitter
- p.Ala305Thr Single submitter GABRB3-related disorder
- p.Arg166Gly Single submitter developmental and epileptic encephalopathy, 43
- p.Arg232Pro Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Arg294Pro Single submitter
- p.Asn328His Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Asn328Tyr Single submitter developmental and epileptic encephalopathy, 43
- p.Asp307Tyr Single submitter developmental and epileptic encephalopathy, 43
- p.Asp49Gly Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Cys161Ser Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Glu178Asp Single submitter ⚠
- p.Glu178Ter Single submitter
- p.Gly133_Val134insGly Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Gly244Arg Single submitter developmental and epileptic encephalopathy, 43
- p.Ile255Val Single submitter GABRB3-related disorder ⚠
- p.Ile257Met Single submitter
- p.Ile306Ser Single submitter GABRB3-related disorder
- p.Ile306Thr Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Leu165Phe Single submitter developmental and epileptic encephalopathy, 43
- p.Leu170Arg Single submitter ⚠
- p.Leu256Gln Single submitter developmental and epileptic encephalopathy, 43
- p.Leu256Val Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Leu260Val Single submitter developmental and epileptic encephalopathy, 43
- p.Leu52Ile Single submitter developmental and epileptic encephalopathy, 43 ⚠
- p.Lys127Glu Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Met140Thr Single submitter epilepsy
- p.Met162Thr Single submitter ⚠
- p.Phe225Cys Single submitter intellectual disability
- p.Phe326Ile Single submitter developmental and epileptic encephalopathy, 43
- p.Pro253His Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Pro301_Tyr302insPheAsnThrHisLeuArgGluThrLeuProLysIlePro Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Ser254Tyr Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Ser261Leu Single submitter Epileptic encephalopathy
- p.Thr156Asn Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Thr156Ile Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Thr185Ala Single submitter developmental and epileptic encephalopathy, 43
- p.Thr282Ser Single submitter developmental and epileptic encephalopathy, 43
- p.Thr287Lys Single submitter
- p.Tyr245His Single submitter developmental and epileptic encephalopathy, 43
- p.Val134Met Single submitter ⚠
- p.Gln210His No assertion criteria developmental and epileptic encephalopathy, 43
- p.Leu284Arg No assertion criteria Epileptic encephalopathy
- p.Trp92Arg No assertion criteria
Conflicting classifications of pathogenicity 32
- c.172+4A>G Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.461+5G>T Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.544+3G>T Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.80+4G>C Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.81-5C>G Single submitter Inborn genetic diseases
- p.Ala98Thr Single submitter developmental and epileptic encephalopathy, 43 ⚠
- p.Arg217His Single submitter developmental and epileptic encephalopathy, 43 ⚠
- p.Arg232Ter Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Arg238Gln Single submitter Inborn genetic diseases ⚠
- p.Arg275Thr Single submitter developmental and epileptic encephalopathy, 43 ⚠
- p.Arg360Trp Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Arg414Gln Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Arg429Gln Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Arg51Ser Single submitter developmental and epileptic encephalopathy, 43 ⚠
- p.Asn110Ser Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Asn376Ser Single submitter intellectual disability ⚠
- p.Asp197Asn Single submitter Inborn genetic diseases ⚠
- p.Ile306Val Single submitter ⚠
- p.Lys127Arg Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Met163Val Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Met252Ile Single submitter epilepsy ⚠
- p.Met80Arg Single submitter GABRB3-related disorder ⚠
- p.Met80Thr Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Pro11Ser Single submitter developmental and epileptic encephalopathy, 43
- p.Pro422Leu Single submitter Inborn genetic diseases ⚠
- p.Ser15Phe Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Ser27= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Thr186Met Single submitter developmental and epileptic encephalopathy, 43 ⚠
- p.Thr281Ala Single submitter developmental and epileptic encephalopathy, 1 ⚠
- p.Thr288Ala Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Tyr302Phe Single submitter Inborn genetic diseases ⚠
- p.Tyr471Cys Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
Benign 47
- c.1080+15A>G Multiple submitters developmental and epileptic encephalopathy, 43
- c.240+13C>T Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- c.240+55589G>A Multiple submitters
- c.240+55591T>A Multiple submitters
- c.240+55604T>C Multiple submitters
- c.240+55623T>G Multiple submitters
- c.241-57G>A Multiple submitters
- c.241-7714A>G Multiple submitters
- c.241-7715C>T Multiple submitters
- c.462-90C>T Multiple submitters
- c.545-90G>A Multiple submitters
- c.80+11G>A Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- c.836-70A>G Multiple submitters
- c.-99GGC[6] Multiple submitters
- p.Gly335= Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- p.Pro25= Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- p.Ser261= Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- p.Thr201= Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- c.1080+256C>A Single submitter
- c.1080+257dup Single submitter
- c.1081-13del Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.240+296C>A Single submitter
- c.240+55526G>C Single submitter
- c.241-14del Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.241-3921G>A Single submitter
- c.241-3del Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.241-3dup Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.241-4055_241-4054insTCCCCACAGCCAA Single submitter
- c.241-7147_241-7146dup Single submitter
- c.241-7176T>C Single submitter
- c.241-7183_241-7180del Single submitter
- c.241-7465G>A Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.241-7844G>A Single submitter
- c.461+140dup Single submitter
- c.461+195_461+196insT Single submitter
- c.461+232TA[2] Single submitter
- c.682+102C>T Single submitter
- c.682+287T>C Single submitter
- c.683-257G>A Single submitter
- c.835+153C>T Single submitter
- c.835+194C>T Single submitter
- c.836-336C>T Single submitter
- p.Gly7Glu Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Leu421Phe Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Leu5His Single submitter
- p.Leu9Ile Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Gly11Cys No assertion criteria GABRB3-related disorder
Benign/Likely benign 11
- c.173-13G>C Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- c.682+20A>G Multiple submitters epilepsy, childhood absence, susceptibility to, 5
- c.80+10G>A Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- p.Arg353His Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- p.Arg431= Multiple submitters Inborn genetic diseases
- p.Glu323= Multiple submitters epilepsy, childhood absence, susceptibility to, 5
- p.Gly7Arg Multiple submitters developmental and epileptic encephalopathy, 43
- p.His423Gln Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- p.Leu116= Multiple submitters Inborn genetic diseases
- p.Thr17= Multiple submitters
- p.Tyr402His Multiple submitters Inborn genetic diseases
Likely benign 255
- c.1081-10G>A Multiple submitters epilepsy, childhood absence, susceptibility to, 5
- c.1081-11C>T Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- c.172+10C>T Multiple submitters epilepsy, childhood absence, susceptibility to, 5
- c.173-15C>T Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- c.240+10C>T Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- c.240+55573T>C Multiple submitters
- c.241-56G>A Multiple submitters
- c.544+11G>A Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- c.544+12T>C Multiple submitters epilepsy, childhood absence, susceptibility to, 5
- c.683-7C>A Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- c.81-11C>T Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- c.81-16C>G Multiple submitters epilepsy, childhood absence, susceptibility to, 5
- c.81-3C>T Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- c.81-4C>G Multiple submitters epilepsy, childhood absence, susceptibility to, 5
- c.835+8C>T Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- c.836-20C>T Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- c.-665C>T Multiple submitters
- p.Arg139= Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- p.Arg360Gln Multiple submitters epilepsy, childhood absence, susceptibility to, 5
- p.Asn446= Multiple submitters Seizure
- p.Gly183= Multiple submitters epilepsy, childhood absence, susceptibility to, 5
- p.Gly195= Multiple submitters Inborn genetic diseases
- p.Gly312= Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- p.Gly384Ser Multiple submitters epilepsy, childhood absence, susceptibility to, 5
- p.His216= Multiple submitters epilepsy, childhood absence, susceptibility to, 5
- p.Ile448Val Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- p.Leu368= Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- p.Leu372= Multiple submitters epilepsy, childhood absence, susceptibility to, 5
- p.Phe13= Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- p.Phe225= Multiple submitters epilepsy, childhood absence, susceptibility to, 5
- p.Phe314= Multiple submitters Inborn genetic diseases
- p.Pro119= Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- p.Pro209= Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- p.Ser100= Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- p.Ser356= Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- p.Ser371= Multiple submitters Seizure
- p.Thr107= Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- p.Thr135= Multiple submitters Inborn genetic diseases
- p.Thr157= Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- p.Thr83= Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- p.Tyr251= Multiple submitters epilepsy, childhood absence, susceptibility to, 5
- p.Tyr48= Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- p.Val61= Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- c.1080+14_1080+15inv Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.1080+306G>A Single submitter
- c.1080+7T>C Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.1081-10G>T Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.1081-17A>G Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.1081-31_1081-28del Single submitter
- c.1081-5391T>A Single submitter
- c.1081-7C>G Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.172+15C>T Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.172+16G>A Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.172+17C>T Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.172+18G>A Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.172+19G>A Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.172+7G>C Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.172+8G>C Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.172+9G>C Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.173-10C>T Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.173-17T>A Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.173-18G>A Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.173-4G>T Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.173-5C>G Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.173-7C>G Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.173-9T>C Single submitter
- c.240+12_240+13delinsGT Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.240+12C>T Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.240+13C>A Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.240+18C>T Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.240+19A>G Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.240+55619C>G Single submitter
- c.240+55620A>G Single submitter
- c.240+55863C>T Single submitter
- c.240+7G>T Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.240+8C>T Single submitter
- c.241-12T>C Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.241-18C>G Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.241-20887TA[5] Single submitter
- c.241-7147dup Single submitter
- c.241-7164GTTTTTTT[2] Single submitter
- c.241-7247G>A Single submitter
- c.241-7429del Single submitter
- c.241-7433G>A Single submitter
- c.241-7440A>G Single submitter
- c.241-7462C>A Single submitter
- c.241-7469A>T Single submitter Inborn genetic diseases
- c.241-7471C>G Single submitter
- c.241-7C>T Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.241-8C>T Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.241-9T>C Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.461+12T>G Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.461+13del Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.461+147_461+148dup Single submitter
- c.461+17A>G Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.461+19G>A Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.461+8T>C Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.462-13C>T Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.462-13del Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.462-14C>T Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.462-16A>G Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.462-7A>G Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.544+10C>T Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.544+14T>G Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.544+161_544+162del Single submitter
- c.544+16T>G Single submitter
- c.544+88A>G Single submitter
- c.545-18C>T Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.545-8C>G Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.682+11C>T Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.682+7C>T Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.682+8C>T Single submitter
- c.683-10T>G Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.683-11G>C Single submitter
- c.683-11G>T Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.683-12T>C Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.683-14T>C Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.683-16T>C Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.683-29_683-18del Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.683-4A>G Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.683-7C>T Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.683-9_683-8del Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.80+10C>G Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.80+11G>T Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.80+12G>A Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.80+13C>A Single submitter
- c.80+13G>A Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.80+17C>T Single submitter
- c.80+7T>C Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.80+8C>A Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.81-13G>A Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.81-14C>T Single submitter
- c.81-15C>G Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.81-16C>T Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.81-19C>T Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.81-4C>T Single submitter
- c.81-7C>T Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.835+16A>G Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.835+20G>A Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.835+7G>C Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.836-10T>C Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.836-14T>G Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.836-19del Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.836-4C>T Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.-23C>G Single submitter
- c.-44G>A Single submitter
- c.-664G>A Single submitter
- c.-804G>C Single submitter
- c.-806G>C Single submitter
- c.-806G>T Single submitter
- c.-99GGC[5] Single submitter
- p.Ala159= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Ala25Thr Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Ala274= Single submitter
- p.Ala305= Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Ala325= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Ala5= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Arg111= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Arg166= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Arg205= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Arg221Lys Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Arg232= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Arg238Trp Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Arg353= Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Arg353Cys Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Arg389= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Arg419= Single submitter
- p.Arg429= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Arg450= Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Asn222= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Asn268= Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Asn29= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Asn33= Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Asp171= Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Asp362= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Asp387Asn Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Asp42= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Asp444= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Asp73= Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Gln89= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Gln90= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Glu190= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Glu207= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Glu215= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Glu24Gln Single submitter Inborn genetic diseases
- p.Glu295= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Glu357Lys Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Glu380= Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Glu77= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Gly101= Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Gly11= Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Gly152= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Gly244= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Gly3= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Gly386= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Gly58= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Gly64= Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.His132= Single submitter
- p.Ile12= Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Ile213= Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Ile280= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Ile306= Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Ile367= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Ile393Val Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Ile448= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Ile454= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Ile67= Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Ile69= Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Leu153= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Leu416= Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Leu435= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Leu52= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Leu5Phe Single submitter Inborn genetic diseases
- p.Leu97= Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Lys127= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Lys198= Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Lys341Gln Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Phe211= Single submitter
- p.Phe316= Single submitter Inborn genetic diseases
- p.Phe332= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Phe395= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Phe415= Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Pro16= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Pro169= Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Pro298= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Pro31= Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Pro422= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Pro440= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Pro60= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Ser129= Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Ser14= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Ser220= Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Ser382= Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Ser398= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Ser432= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Ser433= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Ser71= Single submitter
- p.Ser76= Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Thr121= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Thr186= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Thr258= Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Thr370= Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Thr443= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Thr85= Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Tyr122= Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Tyr192= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Tyr245= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Tyr470= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Tyr91= Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Val131= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Val17= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Val200= Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Val203= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Val263= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Phe56= No assertion criteria GABRB3-related disorder
Uncertain significance 309
Showing the top 300 by review status; the full set is in the sitemap.
- c.1080+3A>G Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- c.1080+6C>T Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- c.1081-5A>G Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- c.172+3_172+6del Multiple submitters epilepsy, childhood absence, susceptibility to, 5
- c.835+5G>A Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- p.Ala160Val Multiple submitters epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Ala20Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala226Thr Multiple submitters epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Ala25Ser Multiple submitters epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Ala320Thr Multiple submitters epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Arg142Cys Multiple submitters developmental and epileptic encephalopathy, 43 ⚠
- p.Arg142His Multiple submitters developmental and epileptic encephalopathy, 43 ⚠
- p.Arg194Gln Multiple submitters developmental and epileptic encephalopathy, 43 ⚠
- p.Arg217Cys Multiple submitters epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Arg294Gln Multiple submitters epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Arg409Ter Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- p.Asn174Lys Multiple submitters epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Asn268Ser Multiple submitters epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Asn351Ser Multiple submitters epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Asn366Ser Multiple submitters epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Asp146Ala Multiple submitters epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Asp444Asn Multiple submitters epilepsy, childhood absence, susceptibility to, 5
- p.Asp49Glu Multiple submitters epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Asp94Glu Multiple submitters epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Glu295Ter Multiple submitters developmental and epileptic encephalopathy, 43
- p.Glu323Lys Multiple submitters epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Gly32Arg Multiple submitters epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Gly57Arg Multiple submitters epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Ile213Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile385Val Multiple submitters epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Leu9Pro Multiple submitters epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Lys341Asn Multiple submitters epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Lys345Glu Multiple submitters epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Lys436Thr Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- p.Lys46Gln Multiple submitters epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Met140Val Multiple submitters epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Met162Ile Multiple submitters epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Met1Thr Multiple submitters Inborn genetic diseases
- p.Phe10Tyr Multiple submitters epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Phe332Ser Multiple submitters epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Pro103His Multiple submitters epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Pro145Arg Multiple submitters epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Pro169Leu Multiple submitters epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Pro59Ser Multiple submitters epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Thr176Ala Multiple submitters epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Thr443Ser Multiple submitters epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Tyr182His Multiple submitters epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Tyr82Ser Multiple submitters epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Val214Met Multiple submitters epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Val21Leu Multiple submitters epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Val224del Multiple submitters epilepsy, childhood absence, susceptibility to, 1
- p.Val315Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val455Met Multiple submitters epilepsy, childhood absence, susceptibility to, 1 ⚠
- c.172+11T>A Single submitter developmental and epileptic encephalopathy, 43
- c.172+6T>C Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.240+5G>C Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.241-4C>G Single submitter
- c.241-7463G>A Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.241-7464G>A Single submitter
- c.461+15T>G Single submitter developmental and epileptic encephalopathy, 43
- c.461+4T>A Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.462-6T>A Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.462-7A>C Single submitter
- c.544+11G>T Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.682_682+3dup Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.683-3T>C Single submitter epilepsy, childhood absence, susceptibility to, 5
- c.80+15G>A Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.80+3_80+14del Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.835+5G>T Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.835+6T>C Single submitter epilepsy, childhood absence, susceptibility to, 1
- c.-2G>A Single submitter
- c.-667C>T Single submitter
- p.Ala20Ser Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Ala20Thr Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Ala274Val Single submitter ⚠
- p.Ala347Asp Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Ala347Pro Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Ala447Val Single submitter developmental and epileptic encephalopathy, 43 ⚠
- p.Ala5Pro Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Ala70Ser Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Ala98Ser Single submitter ⚠
- p.Arg111Gln Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Arg139Cys Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Arg139His Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Arg139Leu Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Arg21Ter Single submitter
- p.Arg232Leu Single submitter ⚠
- p.Arg275Ile Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Arg294Trp Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Arg360Gly Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Arg389Ser Single submitter ⚠
- p.Arg409Gln Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Arg414Leu Single submitter ⚠
- p.Arg414Ter Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Arg429Trp Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Arg431fs Single submitter
- p.Arg450Ter Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Arg51Gly Single submitter developmental and epileptic encephalopathy, 43 ⚠
- p.Asn110His Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Asn138Lys Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Asn138Thr Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Asn268Lys Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Asn290His Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Asn29Lys Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Asn376Thr Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Asn379Ser Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Asn397His Single submitter ⚠
- p.Asn473Lys Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Asn473Thr Single submitter ⚠
- p.Asp126Asn Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Asp171Glu Single submitter ⚠
- p.Asp188Val Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Asp197Tyr Single submitter developmental and epileptic encephalopathy, 43 ⚠
- p.Asp270Gly Single submitter ⚠
- p.Asp30Ala Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Asp30Glu Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Asp352Ala Single submitter ⚠
- p.Asp418Gly Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Asp441Asn Single submitter ⚠
- p.Asp441fs Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Asp444Gly Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Asp49Asn Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Asp73His Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Asp81Val Single submitter ⚠
- p.Cys175Trp Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Cys62Gly Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Gln115Ter Single submitter intellectual disability
- p.Gln210_Phe211delinsHisVal Single submitter
- p.Gln401His Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Gln434His Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Glu172Gln Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Glu207fs Single submitter
- p.Glu207Lys Single submitter ⚠
- p.Glu344Lys Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Glu357Ala Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Glu373Lys Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Glu377Ala Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Glu377Lys Single submitter ⚠
- p.Glu380Ala Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Glu380Lys Single submitter Inborn genetic diseases ⚠
- p.Glu39Val Single submitter Inborn genetic diseases ⚠
- p.Glu7_Leu9del Single submitter Inborn genetic diseases
- p.Glu77Asp Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Glu77Ter Single submitter Inborn genetic diseases
- p.Gly11Asp Single submitter ⚠
- p.Gly147Glu Single submitter ⚠
- p.Gly152Arg Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Gly202Arg Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Gly228Arg Single submitter developmental and epileptic encephalopathy, 43 ⚠
- p.Gly279Arg Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Gly312Asp Single submitter ⚠
- p.Gly383Asp Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Gly384Cys Single submitter ⚠
- p.Gly384Val Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Gly3fs Single submitter developmental and epileptic encephalopathy, 43
- p.Gly3Val Single submitter developmental and epileptic encephalopathy, 43 ⚠
- p.Gly413Arg Single submitter ⚠
- p.Gly417Arg Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Gly417Glu Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Gly4Val Single submitter developmental and epileptic encephalopathy, 43
- p.Gly58Val Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Gly64Arg Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Gly64Glu Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Gly6Arg Single submitter ⚠
- p.Gly6Glu Single submitter ⚠
- p.His132Tyr Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.His364Tyr Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.His412Tyr Single submitter Inborn genetic diseases ⚠
- p.His427Arg Single submitter developmental and epileptic encephalopathy, 43 ⚠
- p.Ile102Leu Single submitter ⚠
- p.Ile12Val Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Ile141Val Single submitter ⚠
- p.Ile189Thr Single submitter ⚠
- p.Ile243Thr Single submitter developmental and epileptic encephalopathy, 43 ⚠
- p.Ile267Val Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Ile289Thr Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Ile300Leu Single submitter ⚠
- p.Ile300Val Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Ile330Val Single submitter Inborn genetic diseases ⚠
- p.Ile367Thr Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Ile367Val Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Ile393Met Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Ile393Thr Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Ile448Met Single submitter Inborn genetic diseases ⚠
- p.Ile454Met Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Leu104Phe Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Leu104Pro Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Leu106Phe Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Leu116Arg Single submitter ⚠
- p.Leu116Val Single submitter ⚠
- p.Leu143Arg Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Leu153Pro Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Leu18Gln Single submitter epilepsy, childhood absence, susceptibility to, 5
- p.Leu208Phe Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Leu233Pro Single submitter developmental and epileptic encephalopathy, 43 ⚠
- p.Leu248Val Single submitter ⚠
- p.Leu256Pro Single submitter ⚠
- p.Leu260Met Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Leu278= Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Leu284dup Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Leu293Pro Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Leu322Pro Single submitter developmental and epileptic encephalopathy, 43 ⚠
- p.Leu369Val Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Leu372Arg Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Leu416Pro Single submitter Inborn genetic diseases ⚠
- p.Leu435Val Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Leu44Met Single submitter ⚠
- p.Leu462Pro Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Leu462Val Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Leu4Arg Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Leu5Val Single submitter Inborn genetic diseases
- p.Lys198Asn Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Lys198Thr Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Lys240Arg Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Lys299Arg Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Lys304Glu Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Lys348Glu Single submitter developmental and epileptic encephalopathy, 43 ⚠
- p.Lys404Ile Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Lys425Thr Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Lys43Arg Single submitter ⚠
- p.Met162Val Single submitter developmental and epileptic encephalopathy, 43 ⚠
- p.Met1Val Single submitter
- p.Met308Val Single submitter ⚠
- p.Met311Thr Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Met407Ile Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Met407Val Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Met74Arg Single submitter
- p.Met74Thr Single submitter ⚠
- p.Met80Ile Single submitter ⚠
- p.Phe13Leu Single submitter Inborn genetic diseases ⚠
- p.Phe211Val Single submitter ⚠
- p.Phe225Val Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Phe331fs Single submitter
- p.Phe395fs Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Phe56Ser Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Pro103Ser Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Pro16Gln Single submitter Inborn genetic diseases ⚠
- p.Pro16Ser Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Pro298Ser Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Pro301Ala Single submitter ⚠
- p.Pro31Phe Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Pro457fs Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Pro54Ser Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Pro59Ala Single submitter ⚠
- p.Pro60Arg Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Ser14Ala Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Ser15Cys Single submitter
- p.Ser220Leu Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Ser234Leu Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Ser23Phe Single submitter
- p.Ser264Phe Single submitter developmental and epileptic encephalopathy, 43 ⚠
- p.Ser371Ala Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Ser391Leu Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Ser398Thr Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Ser3Tyr Single submitter
- p.Ser406fs Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Ser76Phe Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Thr107Met Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Thr135Ala Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Thr17Ser Single submitter
- p.Thr185Pro Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Thr201Ile Single submitter Inborn genetic diseases ⚠
- p.Thr227Ala Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Thr227Ile Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Thr227Pro Single submitter developmental and epileptic encephalopathy, 43 ⚠
- p.Thr282Ala Single submitter Inborn genetic diseases ⚠
- p.Thr282Ile Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Thr388Ile Single submitter ⚠
- p.Thr40Ala Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Thr40Met Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Thr426Pro Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Trp16Ter Single submitter
- p.Trp193Arg Single submitter ⚠
- p.Tyr151Cys Single submitter ⚠
- p.Tyr151His Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Tyr182Cys Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Tyr230Cys Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Tyr329His Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Tyr467His Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Tyr467Ser Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Tyr471Ter Single submitter epilepsy, childhood absence, susceptibility to, 1
- p.Tyr48Cys Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Tyr82Cys Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Tyr99Cys Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Val112Glu Single submitter ⚠
- p.Val118Met Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Val131Leu Single submitter
- p.Val134Leu Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Val136Met Single submitter developmental and epileptic encephalopathy, 43 ⚠
- p.Val149Met Single submitter ⚠
- p.Val17Gly Single submitter ⚠
- p.Val19Leu Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Val200Ile Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Val21Met Single submitter Inborn genetic diseases ⚠
- p.Val223Asp Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Val224Phe Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠
- p.Val22Leu Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Val283Met Single submitter epilepsy, childhood absence, susceptibility to, 1 ⚠
- p.Val303Ile Single submitter ⚠
- p.Val315Phe Single submitter epilepsy, childhood absence, susceptibility to, 5 ⚠