LGI1 — 561 ClinVar variants
All ClinVar germline LGI1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 263 flagged for review →
39 Pathogenic · 5 Pathogenic/Likely pathogenic · 28 Likely pathogenic · 29 Conflicting · 17 Benign · 5 Benign/Likely benign · 157 Likely benign · 281 Uncertain significance
Full LGI1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 263
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 14
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
LGI1 p.Ala12Ser
Conflicting
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Ala557Thr
Conflicting
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Arg407His
Conflicting
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Asn246Lys
Conflicting
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Asp104Asn
Conflicting
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Asp240Glu
Conflicting
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.His133Arg
Conflicting
Single submitter
Inborn genetic diseases
-
LGI1 p.Ile359Val
Conflicting
Single submitter
Inborn genetic diseases
-
LGI1 p.Leu16Val
Conflicting
Single submitter
Inborn genetic diseases
-
LGI1 p.Ser439Leu
Conflicting
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Thr271Ile
Conflicting
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Thr64Ile
Conflicting
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Tyr487His
Conflicting
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Val69Ile
Conflicting
Single submitter
autosomal dominant epilepsy with auditory features
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.
-
LGI1 p.Met1Val
Conflicting
Single submitter
autosomal dominant epilepsy with auditory features
Predictors lean, ClinVar uncertain 169
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 169
- LGI1 p.Ala193Thr Uncertain significance Multiple submitters
-
LGI1 p.Ala227Val
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Ala375Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LGI1 p.Ala38Gly
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Ala434Thr
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Arg132Ser
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Arg136Gln
Uncertain significance
Multiple submitters
epilepsy, familial temporal lobe, 1
-
LGI1 p.Arg209His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LGI1 p.Arg533Cys
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Arg533His
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Cys48Tyr
Uncertain significance
Multiple submitters
epilepsy, familial temporal lobe, 1
-
LGI1 p.Gln392His
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Gln469Arg
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Glu201Lys
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Glu4Asp
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Gly442Glu
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.His190Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LGI1 p.His527Pro
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Ile130Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LGI1 p.Ile19Thr
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Ile239Thr
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Ile289Thr
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Ile446Leu
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Ile446Val
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Leu154Ile
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Leu16Arg
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Met429Val
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Pro115Leu
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Pro91Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LGI1 p.Ser216Leu
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Ser404Cys
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Ser464Leu
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Ser92Leu
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Thr153Ser
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Thr279Ala
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Thr396Met
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Thr90Met
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Tyr377His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LGI1 p.Tyr496Phe
Uncertain significance
Multiple submitters
epilepsy, familial temporal lobe, 1
-
LGI1 p.Tyr548Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LGI1 p.Val285Ile
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Val440Met
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Val457Ile
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Val45Met
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Ala12Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
LGI1 p.Ala20Gly
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Ala20Thr
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Ala28Val
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Ala375Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
LGI1 p.Ala375Val
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
- LGI1 p.Ala416Glu Uncertain significance Single submitter
- LGI1 p.Ala434Ser Uncertain significance Single submitter
-
LGI1 p.Ala506Glu
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
- LGI1 p.Ala506Thr Uncertain significance Single submitter
-
LGI1 p.Ala509Thr
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Ala53Val
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Ala557Ser
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Arg18Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
LGI1 p.Arg18Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
LGI1 p.Arg273Trp
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Arg389Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- LGI1 p.Arg59Lys Uncertain significance Single submitter
-
LGI1 p.Asn125Ser
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
- LGI1 p.Asn192Ser Uncertain significance Single submitter
-
LGI1 p.Asn212Asp
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Asn274Ser
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Asn277Asp
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Asn333Ser
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Asn414Asp
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Asn428Ser
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Asn518Asp
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Asn544Asp
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
- LGI1 p.Asp104Gly Uncertain significance Single submitter
-
LGI1 p.Asp231Tyr
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Asp276Glu
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
- LGI1 p.Asp425Glu Uncertain significance Single submitter
- LGI1 p.Cys221Arg Uncertain significance Single submitter
-
LGI1 p.Cys55Arg
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Gln230Glu
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Gln294His
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Gln371Arg
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Gln418His
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Gln423Lys
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
- LGI1 p.Gln466Arg Uncertain significance Single submitter
-
LGI1 p.Gln466Lys
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Glu201Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- LGI1 p.Glu201Gly Uncertain significance Single submitter
- LGI1 p.Glu248Asp Uncertain significance Single submitter
- LGI1 p.Glu248Lys Uncertain significance Single submitter
-
LGI1 p.Glu264Gln
Uncertain significance
Single submitter
epilepsy, familial temporal lobe, 1
- LGI1 p.Gly137Val Uncertain significance Single submitter
-
LGI1 p.Gly172Val
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Gly461Arg
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
- LGI1 p.His116Arg Uncertain significance Single submitter
-
LGI1 p.His133Tyr
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
- LGI1 p.His190Arg Uncertain significance Single submitter
- LGI1 p.His370Tyr Uncertain significance Single submitter
-
LGI1 p.His527Arg
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Ile19Val
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Ile239Val
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
- LGI1 p.Ile252Val Uncertain significance Single submitter
- LGI1 p.Ile261Val Uncertain significance Single submitter
-
LGI1 p.Ile289Val
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Ile291Val
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Ile335Val
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
- LGI1 p.Ile400Ser Uncertain significance Single submitter
-
LGI1 p.Ile468Thr
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Leu120Val
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Leu16Pro
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Leu25Phe
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Leu26Phe
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Leu30Phe
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Leu482Pro
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Leu517Ile
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Leu96Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
LGI1 p.Lys208Asn
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Lys259Arg
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Lys328Arg
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Lys35Arg
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Lys39Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
LGI1 p.Lys41Arg
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
- LGI1 p.Lys549Asn Uncertain significance Single submitter
- LGI1 p.Met471Ile Uncertain significance Single submitter
-
LGI1 p.Phe103Ser
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Phe22Ile
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Phe314Tyr
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
- LGI1 p.Phe537Cys Uncertain significance Single submitter
-
LGI1 p.Phe74Ser
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
- LGI1 p.Pro115Ser Uncertain significance Single submitter
-
LGI1 p.Pro155Leu
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Pro15Arg
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Pro15Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
LGI1 p.Pro203His
Uncertain significance
Single submitter
intellectual disability
- LGI1 p.Pro204Arg Uncertain significance Single submitter
- LGI1 p.Pro204Ser Uncertain significance Single submitter
-
LGI1 p.Pro204Thr
Uncertain significance
Single submitter
epilepsy, familial temporal lobe, 1
-
LGI1 p.Pro37Gln
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Pro391Ser
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Ser213Arg
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Ser236Leu
Uncertain significance
Single submitter
epilepsy, familial temporal lobe, 1
- LGI1 p.Ser27Pro Uncertain significance Single submitter
-
LGI1 p.Ser463Phe
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Ser524Ala
Uncertain significance
Single submitter
epilepsy, familial temporal lobe, 1
-
LGI1 p.Ser529Phe
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
- LGI1 p.Ser6Arg Uncertain significance Single submitter
-
LGI1 p.Ser83Leu
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Thr166Pro
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Thr241Asn
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Thr271Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
LGI1 p.Thr279Arg
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
Predictors split 79
The independent predictors disagree with each other — read with care.
-
LGI1 p.Ala253Thr
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Arg209Cys
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Arg273Gln
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Arg407Gly
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Arg474Gln
Likely pathogenic
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Asn52Asp
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Gly355Ala
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Gly366Ala
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Gly366Arg
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
- LGI1 p.His374Tyr Uncertain significance Multiple submitters
-
LGI1 p.Ile452Thr
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Phe242Leu
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Phe303Leu
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Phe511Tyr
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Phe537Leu
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Pro391Leu
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Ser369Phe
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Ser473Leu
Pathogenic/Likely pathogenic
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Thr380Ser
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Val75Gly
Uncertain significance
Multiple submitters
autosomal dominant epilepsy with auditory features
-
LGI1 p.Ala110Val
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Ala253Ser
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Ala253Val
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
- LGI1 p.Ala300Thr Uncertain significance Single submitter
-
LGI1 p.Arg171Thr
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Arg311Gln
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Arg330Gln
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
- LGI1 p.Arg378Lys Uncertain significance Single submitter
-
LGI1 p.Arg407Cys
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
- LGI1 p.Asn342Thr Uncertain significance Single submitter
-
LGI1 p.Asp169Asn
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Asp169Tyr
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
- LGI1 p.Asp425Ala Uncertain significance Single submitter
-
LGI1 p.Cys286Gly
Likely pathogenic
Single submitter
epilepsy, familial temporal lobe, 1
- LGI1 p.Gln301Arg Uncertain significance Single submitter
-
LGI1 p.Glu123Val
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Gly305Ser
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Gly543Arg
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
- LGI1 p.His143Gln Uncertain significance Single submitter
- LGI1 p.His370Arg Uncertain significance Single submitter
- LGI1 p.His437Gln Uncertain significance Single submitter
- LGI1 p.Ile198Phe Uncertain significance Single submitter
-
LGI1 p.Ile198Thr
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Ile291Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
LGI1 p.Ile321Thr
Uncertain significance
Single submitter
epilepsy, familial temporal lobe, 1
-
LGI1 p.Leu144Phe
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
- LGI1 p.Leu151Phe Uncertain significance Single submitter
- LGI1 p.Leu29Pro Uncertain significance Single submitter
-
LGI1 p.Leu302Pro
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Leu492Phe
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
- LGI1 p.Leu54Ser Uncertain significance Single submitter
-
LGI1 p.Lys331Thr
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Lys353Gln
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Lys361Gln
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Lys436Glu
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Met458Thr
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Phe121Ile
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
- LGI1 p.Phe135Leu Uncertain significance Single submitter
-
LGI1 p.Phe511Leu
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
- LGI1 p.Phe514Cys Uncertain significance Single submitter
- LGI1 p.Phe98Leu Uncertain significance Single submitter
-
LGI1 p.Pro288Ser
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Pro427Thr
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Pro66Ala
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Ser351Ile
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
- LGI1 p.Ser369Cys Uncertain significance Single submitter
-
LGI1 p.Ser473Pro
Uncertain significance
Single submitter
epilepsy, familial temporal lobe, 1
-
LGI1 p.Ser556Asn
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Thr134Ile
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
- LGI1 p.Thr449Ile Uncertain significance Single submitter
- LGI1 p.Tyr377Ser Uncertain significance Single submitter
-
LGI1 p.Val250Gly
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
- LGI1 p.Val268Gly Uncertain significance Single submitter
- LGI1 p.Val435Met Uncertain significance Single submitter
-
LGI1 p.Val444Glu
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Val478Ala
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
- LGI1 p.Val501Met Uncertain significance Single submitter
-
LGI1 p.Val69Ala
Uncertain significance
Single submitter
autosomal dominant epilepsy with auditory features
-
LGI1 p.Tyr368Cys
Likely benign
No assertion criteria
intellectual disability
All LGI1 variants
Pathogenic 39
- p.Arg330Ter Multiple submitters epilepsy, familial temporal lobe, 1
- p.Ala110fs Single submitter
- p.Arg474Ter Single submitter autosomal dominant epilepsy with auditory features
- p.Asn148fs Single submitter autosomal dominant epilepsy with auditory features
- p.Asn149fs Single submitter autosomal dominant epilepsy with auditory features
- p.Asn534Ter Single submitter autosomal dominant epilepsy with auditory features
- p.Cys200fs Single submitter autosomal dominant epilepsy with auditory features
- p.Cys200Ter Single submitter autosomal dominant epilepsy with auditory features
- p.Cys46Arg Single submitter autosomal dominant epilepsy with auditory features
- p.Gln230Ter Single submitter autosomal dominant epilepsy with auditory features
- p.Gln418Ter Single submitter autosomal dominant epilepsy with auditory features
- p.Gln466Ter Single submitter autosomal dominant epilepsy with auditory features
- p.Gln546fs Single submitter
- p.Leu165Ter Single submitter
- p.Leu373Ter Single submitter autosomal dominant epilepsy with auditory features
- p.Leu419Ter Single submitter autosomal dominant epilepsy with auditory features
- p.Lys139fs Single submitter autosomal dominant epilepsy with auditory features
- p.Lys270fs Single submitter autosomal dominant epilepsy with auditory features
- p.Phe314fs Single submitter autosomal dominant epilepsy with auditory features
- p.Phe338Ser Single submitter epilepsy, familial temporal lobe, 1
- p.Pro204fs Single submitter
- p.Pro481fs Single submitter epilepsy, familial temporal lobe, 1
- p.Ser129Ter Single submitter autosomal dominant epilepsy with auditory features
- p.Thr390delinsLysTer Single submitter autosomal dominant epilepsy with auditory features
- p.Trp265Ter Single submitter autosomal dominant epilepsy with auditory features
- p.Trp362Ter Single submitter Inborn genetic diseases
- p.Trp376Ter Single submitter autosomal dominant epilepsy with auditory features
- p.Tyr345Ter Single submitter autosomal dominant epilepsy with auditory features
- p.Tyr368Ter Single submitter autosomal dominant epilepsy with auditory features
- p.Tyr489fs Single submitter autosomal dominant epilepsy with auditory features
- c.360-3C>A No assertion criteria epilepsy, familial temporal lobe, 1
- p.Cys48Phe No assertion criteria developmental and epileptic encephalopathy 121
- p.Glu383Ala No assertion criteria epilepsy, familial temporal lobe, 1
- p.Ile122Lys No assertion criteria epilepsy, familial temporal lobe, 1
- p.Ile82Thr No assertion criteria developmental and epileptic encephalopathy 121
- p.Leu232Pro No assertion criteria epilepsy, familial temporal lobe, 1
- p.Phe318Cys No assertion criteria epilepsy, familial temporal lobe, 1
- p.Ser524Pro No assertion criteria developmental and epileptic encephalopathy 121
- p.Ter558Gly No assertion criteria developmental and epileptic encephalopathy 121
Pathogenic/Likely pathogenic 5
- p.Arg136Trp Multiple submitters autosomal dominant epilepsy with auditory features
- p.Gln480fs Multiple submitters autosomal dominant epilepsy with auditory features
- p.His527fs Multiple submitters autosomal dominant epilepsy with auditory features
- p.Lys36fs Multiple submitters autosomal dominant epilepsy with auditory features
- p.Ser473Leu Multiple submitters autosomal dominant epilepsy with auditory features ⚠
Likely pathogenic 28
- c.504-1G>T Multiple submitters Inborn genetic diseases
- p.Arg311Ter Multiple submitters Seizure
- p.Arg474Gln Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- c.287+1G>A Single submitter epilepsy, familial temporal lobe, 1
- c.287+1G>C Single submitter autosomal dominant epilepsy with auditory features
- c.287+3G>C Single submitter Seizure
- c.431+1G>A Single submitter epilepsy, familial temporal lobe, 1
- c.504-9_505del Single submitter autosomal dominant epilepsy with auditory features
- c.673+2T>A Single submitter LGI1-related disorder
- c.673+2T>C Single submitter Inborn genetic diseases
- c.674-1G>A Single submitter
- p.Arg63fs Single submitter epilepsy, familial temporal lobe, 1
- p.Asn365fs Single submitter epilepsy, familial temporal lobe, 1
- p.Cys286Gly Single submitter epilepsy, familial temporal lobe, 1 ⚠
- p.Cys42Ter Single submitter epilepsy, familial temporal lobe, 1
- p.Gln230fs Single submitter
- p.Gln235fs Single submitter epilepsy, familial temporal lobe, 1
- p.Glu205fs Single submitter
- p.Glu2Ter Single submitter epilepsy, familial temporal lobe, 1
- p.His550fs Single submitter
- p.Ile122Thr Single submitter epilepsy, familial temporal lobe, 1
- p.Ile130fs Single submitter
- p.Ile298Thr Single submitter
- p.Lys228fs Single submitter epilepsy, familial temporal lobe, 1
- p.Phe318Ser Single submitter epilepsy, familial temporal lobe, 1
- p.Val168fs Single submitter LGI1-related disorder
- p.Val251fs Single submitter epilepsy, familial temporal lobe, 1
- c.215+2T>A No assertion criteria epilepsy, familial temporal lobe, 1
Conflicting classifications of pathogenicity 29
- c.673+5T>C Single submitter autosomal dominant epilepsy with auditory features
- c.838+3A>G Single submitter autosomal dominant epilepsy with auditory features
- c.*180G>A Single submitter epilepsy, familial temporal lobe, 1
- p.Ala12Ser Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Ala557Thr Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Arg407His Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Asn173= Single submitter autosomal dominant epilepsy with auditory features
- p.Asn246Lys Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Asn365= Single submitter Inborn genetic diseases
- p.Asp104Asn Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Asp240Glu Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Cys200= Single submitter Inborn genetic diseases
- p.His133Arg Single submitter Inborn genetic diseases ⚠
- p.Ile239= Single submitter autosomal dominant epilepsy with auditory features
- p.Ile359Val Single submitter Inborn genetic diseases ⚠
- p.Leu16Val Single submitter Inborn genetic diseases ⚠
- p.Leu385= Single submitter autosomal dominant epilepsy with auditory features
- p.Leu96= Single submitter autosomal dominant epilepsy with auditory features
- p.Met1Val Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Pro115= Single submitter autosomal dominant epilepsy with auditory features
- p.Ser100Leu Single submitter Inborn genetic diseases
- p.Ser439Leu Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Ser464= Single submitter autosomal dominant epilepsy with auditory features
- p.Thr271Ile Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Thr279= Single submitter autosomal dominant epilepsy with auditory features
- p.Thr64Ile Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Tyr487His Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Val45= Single submitter autosomal dominant epilepsy with auditory features
- p.Val69Ile Single submitter autosomal dominant epilepsy with auditory features ⚠
Benign 17
- c.288-242A>G Multiple submitters
- c.432-6_432-5dup Multiple submitters Inborn genetic diseases
- c.503+43A>T Multiple submitters
- c.503+44G>C Multiple submitters
- c.503+99T>G Multiple submitters
- c.504-100C>T Multiple submitters
- c.674-18T>C Multiple submitters autosomal dominant epilepsy with auditory features
- c.674-80G>T Multiple submitters
- p.Phe219= Multiple submitters epilepsy, familial temporal lobe, 1
- c.216-13del Single submitter autosomal dominant epilepsy with auditory features
- c.287+19A>G Single submitter autosomal dominant epilepsy with auditory features
- c.287+287A>G Single submitter
- c.431+213C>T Single submitter
- c.432-185A>G Single submitter
- c.432-261C>A Single submitter
- c.432-7_432-5dup Single submitter
- c.504-25A>G Single submitter
Benign/Likely benign 5
- c.216-55T>C Multiple submitters autosomal dominant epilepsy with auditory features
- c.432-5dup Multiple submitters autosomal dominant epilepsy with auditory features
- p.Ala354= Multiple submitters autosomal dominant epilepsy with auditory features
- p.Glu248= Multiple submitters autosomal dominant epilepsy with auditory features
- p.Ile491Val Multiple submitters Inborn genetic diseases
Likely benign 157
- c.359+14_359+15delinsA Multiple submitters
- c.360-7A>G Multiple submitters autosomal dominant epilepsy with auditory features
- c.432-5_432-4insTTC Multiple submitters autosomal dominant epilepsy with auditory features
- c.432-5del Multiple submitters Inborn genetic diseases
- c.504-20A>G Multiple submitters autosomal dominant epilepsy with auditory features
- c.838+10G>A Multiple submitters autosomal dominant epilepsy with auditory features
- c.*215T>C Multiple submitters epilepsy, familial temporal lobe, 1
- p.Ala375= Multiple submitters autosomal dominant epilepsy with auditory features
- p.Ala44= Multiple submitters Inborn genetic diseases
- p.Asn101= Multiple submitters autosomal dominant epilepsy with auditory features
- p.Asp247= Multiple submitters autosomal dominant epilepsy with auditory features
- p.Gln235= Multiple submitters autosomal dominant epilepsy with auditory features
- p.Glu430= Multiple submitters autosomal dominant epilepsy with auditory features
- p.His374= Multiple submitters Inborn genetic diseases
- p.His550= Multiple submitters autosomal dominant epilepsy with auditory features
- p.Ile252= Multiple submitters autosomal dominant epilepsy with auditory features
- p.Leu23= Multiple submitters autosomal dominant epilepsy with auditory features
- p.Lys456= Multiple submitters autosomal dominant epilepsy with auditory features
- p.Phe438= Multiple submitters autosomal dominant epilepsy with auditory features
- p.Ser556= Multiple submitters autosomal dominant epilepsy with auditory features
- p.Thr166= Multiple submitters autosomal dominant epilepsy with auditory features
- p.Thr390= Multiple submitters autosomal dominant epilepsy with auditory features
- p.Thr526= Multiple submitters autosomal dominant epilepsy with auditory features
- p.Thr90= Multiple submitters Inborn genetic diseases
- p.Val478= Multiple submitters autosomal dominant epilepsy with auditory features
- c.216-12G>A Single submitter autosomal dominant epilepsy with auditory features
- c.216-15T>C Single submitter autosomal dominant epilepsy with auditory features
- c.216-18T>C Single submitter autosomal dominant epilepsy with auditory features
- c.287+15T>C Single submitter autosomal dominant epilepsy with auditory features
- c.288-14C>A Single submitter autosomal dominant epilepsy with auditory features
- c.288-17G>C Single submitter autosomal dominant epilepsy with auditory features
- c.359+14del Single submitter autosomal dominant epilepsy with auditory features
- c.359+15T>A Single submitter autosomal dominant epilepsy with auditory features
- c.359+17T>G Single submitter autosomal dominant epilepsy with auditory features
- c.359+24del Single submitter
- c.360-10C>A Single submitter autosomal dominant epilepsy with auditory features
- c.360-13T>C Single submitter autosomal dominant epilepsy with auditory features
- c.360-19A>G Single submitter autosomal dominant epilepsy with auditory features
- c.360-19A>T Single submitter autosomal dominant epilepsy with auditory features
- c.431+249G>C Single submitter
- c.431+9G>T Single submitter autosomal dominant epilepsy with auditory features
- c.432-11_432-10insCT Single submitter autosomal dominant epilepsy with auditory features
- c.432-123dup Single submitter
- c.432-15_432-14insAT Single submitter autosomal dominant epilepsy with auditory features
- c.432-20C>T Single submitter autosomal dominant epilepsy with auditory features
- c.432-5_432-4insTA Single submitter autosomal dominant epilepsy with auditory features
- c.432-5_432-4insTC Single submitter autosomal dominant epilepsy with auditory features
- c.432-6_432-5del Single submitter Inborn genetic diseases
- c.432-6_432-5insAT Single submitter autosomal dominant epilepsy with auditory features
- c.503+15G>T Single submitter autosomal dominant epilepsy with auditory features
- c.504-9G>A Single submitter autosomal dominant epilepsy with auditory features
- c.673+10TCA[2] Single submitter autosomal dominant epilepsy with auditory features
- c.673+15A>G Single submitter
- c.673+19T>C Single submitter autosomal dominant epilepsy with auditory features
- c.674-18T>G Single submitter autosomal dominant epilepsy with auditory features
- c.674-5dup Single submitter autosomal dominant epilepsy with auditory features
- c.838+16T>C Single submitter autosomal dominant epilepsy with auditory features
- c.838+18A>C Single submitter autosomal dominant epilepsy with auditory features
- c.839-17C>G Single submitter autosomal dominant epilepsy with auditory features
- c.839-5C>T Single submitter
- c.-33C>T Single submitter
- p.Ala28= Single submitter autosomal dominant epilepsy with auditory features
- p.Ala434= Single submitter autosomal dominant epilepsy with auditory features
- p.Ala509= Single submitter autosomal dominant epilepsy with auditory features
- p.Ala538= Single submitter autosomal dominant epilepsy with auditory features
- p.Ala557= Single submitter autosomal dominant epilepsy with auditory features
- p.Arg330= Single submitter autosomal dominant epilepsy with auditory features
- p.Arg395= Single submitter autosomal dominant epilepsy with auditory features
- p.Arg474= Single submitter autosomal dominant epilepsy with auditory features
- p.Arg533= Single submitter autosomal dominant epilepsy with auditory features
- p.Asn167= Single submitter autosomal dominant epilepsy with auditory features
- p.Asn176= Single submitter autosomal dominant epilepsy with auditory features
- p.Asn342Lys Single submitter autosomal dominant epilepsy with auditory features
- p.Asn363= Single submitter autosomal dominant epilepsy with auditory features
- p.Asn414= Single submitter autosomal dominant epilepsy with auditory features
- p.Asn486= Single submitter autosomal dominant epilepsy with auditory features
- p.Asn531= Single submitter
- p.Asp109= Single submitter autosomal dominant epilepsy with auditory features
- p.Asp197= Single submitter autosomal dominant epilepsy with auditory features
- p.Asp240= Single submitter
- p.Asp443= Single submitter autosomal dominant epilepsy with auditory features
- p.Asp505= Single submitter autosomal dominant epilepsy with auditory features
- p.Asp51= Single submitter autosomal dominant epilepsy with auditory features
- p.Cys221= Single submitter autosomal dominant epilepsy with auditory features
- p.Cys24= Single submitter autosomal dominant epilepsy with auditory features
- p.Cys42= Single submitter autosomal dominant epilepsy with auditory features
- p.Gln294= Single submitter autosomal dominant epilepsy with auditory features
- p.Gln469= Single submitter autosomal dominant epilepsy with auditory features
- p.Gln483= Single submitter autosomal dominant epilepsy with auditory features
- p.Gln520= Single submitter autosomal dominant epilepsy with auditory features
- p.Glu196= Single submitter autosomal dominant epilepsy with auditory features
- p.Gly161= Single submitter autosomal dominant epilepsy with auditory features
- p.Gly202= Single submitter Inborn genetic diseases
- p.His267= Single submitter autosomal dominant epilepsy with auditory features
- p.His527= Single submitter autosomal dominant epilepsy with auditory features
- p.Ile14= Single submitter
- p.Ile222= Single submitter autosomal dominant epilepsy with auditory features
- p.Ile308= Single submitter autosomal dominant epilepsy with auditory features
- p.Ile82= Single submitter autosomal dominant epilepsy with auditory features
- p.Leu114= Single submitter autosomal dominant epilepsy with auditory features
- p.Leu138= Single submitter autosomal dominant epilepsy with auditory features
- p.Leu144= Single submitter autosomal dominant epilepsy with auditory features
- p.Leu146= Single submitter autosomal dominant epilepsy with auditory features
- p.Leu162= Single submitter autosomal dominant epilepsy with auditory features
- p.Leu170= Single submitter autosomal dominant epilepsy with auditory features
- p.Leu214= Single submitter autosomal dominant epilepsy with auditory features
- p.Leu25= Single submitter autosomal dominant epilepsy with auditory features
- p.Leu401= Single submitter autosomal dominant epilepsy with auditory features
- p.Leu448= Single submitter autosomal dominant epilepsy with auditory features
- p.Leu93= Single submitter autosomal dominant epilepsy with auditory features
- p.Lys217= Single submitter autosomal dominant epilepsy with auditory features
- p.Lys317= Single submitter autosomal dominant epilepsy with auditory features
- p.Lys361= Single submitter autosomal dominant epilepsy with auditory features
- p.Lys415= Single submitter autosomal dominant epilepsy with auditory features
- p.Phe103= Single submitter autosomal dominant epilepsy with auditory features
- p.Phe175= Single submitter autosomal dominant epilepsy with auditory features
- p.Phe256= Single submitter autosomal dominant epilepsy with auditory features
- p.Phe314= Single submitter autosomal dominant epilepsy with auditory features
- p.Phe338= Single submitter Inborn genetic diseases
- p.Phe87= Single submitter autosomal dominant epilepsy with auditory features
- p.Pro155= Single submitter autosomal dominant epilepsy with auditory features
- p.Pro203= Single submitter autosomal dominant epilepsy with auditory features
- p.Pro204= Single submitter autosomal dominant epilepsy with auditory features
- p.Pro332= Single submitter
- p.Pro522= Single submitter autosomal dominant epilepsy with auditory features
- p.Pro66= Single submitter autosomal dominant epilepsy with auditory features
- p.Ser100= Single submitter autosomal dominant epilepsy with auditory features
- p.Ser131= Single submitter autosomal dominant epilepsy with auditory features
- p.Ser216= Single submitter autosomal dominant epilepsy with auditory features
- p.Ser229= Single submitter autosomal dominant epilepsy with auditory features
- p.Ser402= Single submitter autosomal dominant epilepsy with auditory features
- p.Ser455= Single submitter autosomal dominant epilepsy with auditory features
- p.Ser473= Single submitter autosomal dominant epilepsy with auditory features
- p.Ser476= Single submitter autosomal dominant epilepsy with auditory features
- p.Ser494= Single submitter
- p.Ser73= Single submitter autosomal dominant epilepsy with auditory features
- p.Ser92= Single submitter autosomal dominant epilepsy with auditory features
- p.Thr257= Single submitter autosomal dominant epilepsy with auditory features
- p.Thr32= Single submitter autosomal dominant epilepsy with auditory features
- p.Thr337= Single submitter autosomal dominant epilepsy with auditory features
- p.Thr396= Single submitter autosomal dominant epilepsy with auditory features
- p.Thr449= Single submitter autosomal dominant epilepsy with auditory features
- p.Thr80= Single submitter autosomal dominant epilepsy with auditory features
- p.Thr99= Single submitter autosomal dominant epilepsy with auditory features
- p.Tyr206= Single submitter autosomal dominant epilepsy with auditory features
- p.Tyr244= Single submitter autosomal dominant epilepsy with auditory features
- p.Tyr249= Single submitter autosomal dominant epilepsy with auditory features
- p.Tyr275= Single submitter autosomal dominant epilepsy with auditory features
- p.Tyr296= Single submitter autosomal dominant epilepsy with auditory features
- p.Tyr433= Single submitter autosomal dominant epilepsy with auditory features
- p.Tyr489= Single submitter autosomal dominant epilepsy with auditory features
- p.Val348= Single submitter autosomal dominant epilepsy with auditory features
- p.Val388= Single submitter
- p.Val432= Single submitter autosomal dominant epilepsy with auditory features
- p.Val457= Single submitter autosomal dominant epilepsy with auditory features
- p.Val501= Single submitter autosomal dominant epilepsy with auditory features
- p.Tyr368Cys No assertion criteria intellectual disability ⚠
Uncertain significance 281
- c.432-3dup Multiple submitters autosomal dominant epilepsy with auditory features
- p.Ala193Thr Multiple submitters ⚠
- p.Ala227Val Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Ala253Thr Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Ala354Ser Multiple submitters autosomal dominant epilepsy with auditory features
- p.Ala375Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala38Gly Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Ala434Thr Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Arg132Ser Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Arg136Gln Multiple submitters epilepsy, familial temporal lobe, 1 ⚠
- p.Arg209Cys Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Arg209His Multiple submitters Inborn genetic diseases ⚠
- p.Arg273Gln Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Arg407Gly Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Arg533Cys Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Arg533His Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Asn52Asp Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Cys48Tyr Multiple submitters epilepsy, familial temporal lobe, 1 ⚠
- p.Gln392His Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Gln469Arg Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Glu201Lys Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Glu4Asp Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Gly355Ala Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Gly366Ala Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Gly366Arg Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Gly442Glu Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.His190Tyr Multiple submitters Inborn genetic diseases ⚠
- p.His374Tyr Multiple submitters ⚠
- p.His527Pro Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Ile130Met Multiple submitters Inborn genetic diseases ⚠
- p.Ile19Thr Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Ile239Thr Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Ile289Thr Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Ile446Leu Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Ile446Val Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Ile452Thr Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Leu154Ile Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Leu16Arg Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Met429Val Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Phe242Leu Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Phe303Leu Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Phe356Leu Multiple submitters Inborn genetic diseases
- p.Phe511Tyr Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Phe537Leu Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Pro115Leu Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Pro391Leu Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Pro91Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser216Leu Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Ser369Phe Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Ser404Cys Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Ser464Leu Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Ser92Leu Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Thr153Ser Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Thr279Ala Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Thr380Ser Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Thr396Met Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Thr90Met Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Tyr377His Multiple submitters Inborn genetic diseases ⚠
- p.Tyr496Phe Multiple submitters epilepsy, familial temporal lobe, 1 ⚠
- p.Tyr548Cys Multiple submitters Inborn genetic diseases ⚠
- p.Val185Met Multiple submitters Inborn genetic diseases
- p.Val285Ile Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Val440Met Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Val457Ile Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Val45Met Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- p.Val75Gly Multiple submitters autosomal dominant epilepsy with auditory features ⚠
- c.215+7C>T Single submitter autosomal dominant epilepsy with auditory features
- c.215+9C>G Single submitter autosomal dominant epilepsy with auditory features
- c.216-3C>T Single submitter autosomal dominant epilepsy with auditory features
- c.216-4T>G Single submitter
- c.287+3G>A Single submitter autosomal dominant epilepsy with auditory features
- c.359+5G>A Single submitter
- c.359+7A>C Single submitter autosomal dominant epilepsy with auditory features
- c.360-11A>G Single submitter
- c.431+5G>A Single submitter autosomal dominant epilepsy with auditory features
- c.674-16T>G Single submitter autosomal dominant epilepsy with auditory features
- c.838+11C>T Single submitter epilepsy, familial temporal lobe, 1
- c.-168G>A Single submitter epilepsy, familial temporal lobe, 1
- c.-66G>C Single submitter epilepsy, familial temporal lobe, 1
- c.*282A>G Single submitter epilepsy, familial temporal lobe, 1
- c.*323A>C Single submitter epilepsy, familial temporal lobe, 1
- c.*338G>C Single submitter epilepsy, familial temporal lobe, 1
- c.*4A>C Single submitter
- c.*59T>A Single submitter epilepsy, familial temporal lobe, 1
- p.Ala110Val Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Ala12Thr Single submitter Inborn genetic diseases ⚠
- p.Ala20Gly Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Ala20Thr Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Ala253Ser Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Ala253Val Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Ala28Val Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Ala300Thr Single submitter ⚠
- p.Ala375Pro Single submitter Inborn genetic diseases ⚠
- p.Ala375Val Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Ala416Glu Single submitter ⚠
- p.Ala434Ser Single submitter ⚠
- p.Ala506Glu Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Ala506Thr Single submitter ⚠
- p.Ala509Thr Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Ala53Val Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Ala557Ser Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Arg171Thr Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Arg18Lys Single submitter Inborn genetic diseases ⚠
- p.Arg18Thr Single submitter Inborn genetic diseases ⚠
- p.Arg273Trp Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Arg311Gln Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Arg330Gln Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Arg378Lys Single submitter ⚠
- p.Arg389Thr Single submitter Inborn genetic diseases ⚠
- p.Arg407Cys Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Arg59Lys Single submitter ⚠
- p.Asn125Ser Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Asn126del Single submitter autosomal dominant epilepsy with auditory features
- p.Asn192Ser Single submitter ⚠
- p.Asn212Asp Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Asn274Ser Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Asn277Asp Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Asn277del Single submitter autosomal dominant epilepsy with auditory features
- p.Asn333Ser Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Asn342Thr Single submitter ⚠
- p.Asn414Asp Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Asn428Ser Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Asn518Asp Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Asn544Asp Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Asp104Gly Single submitter ⚠
- p.Asp157Val Single submitter Seizure
- p.Asp169Asn Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Asp169Tyr Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Asp220Asn Single submitter autosomal dominant epilepsy with auditory features
- p.Asp220His Single submitter autosomal dominant epilepsy with auditory features
- p.Asp231Tyr Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Asp276Glu Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Asp425Ala Single submitter ⚠
- p.Asp425Glu Single submitter ⚠
- p.Cys221Arg Single submitter ⚠
- p.Cys55Arg Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Gln230Glu Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Gln294His Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Gln301Arg Single submitter ⚠
- p.Gln371Arg Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Gln418His Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Gln423Lys Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Gln466Arg Single submitter ⚠
- p.Gln466Lys Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Glu123Val Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Glu201Ala Single submitter Inborn genetic diseases ⚠
- p.Glu201Gly Single submitter ⚠
- p.Glu225Lys Single submitter autosomal dominant epilepsy with auditory features
- p.Glu248Asp Single submitter ⚠
- p.Glu248Lys Single submitter ⚠
- p.Glu248Met Single submitter autosomal dominant epilepsy with auditory features
- p.Glu264Gln Single submitter epilepsy, familial temporal lobe, 1 ⚠
- p.Glu56Gly Single submitter
- p.Gly137Val Single submitter ⚠
- p.Gly172Val Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Gly305Ser Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Gly461Arg Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Gly543Arg Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Gly85Arg Single submitter epilepsy, familial temporal lobe, 1
- p.Gly85Glu Single submitter autosomal dominant epilepsy with auditory features
- p.His116Arg Single submitter ⚠
- p.His133Tyr Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.His143Gln Single submitter ⚠
- p.His190Arg Single submitter ⚠
- p.His370Arg Single submitter ⚠
- p.His370Tyr Single submitter ⚠
- p.His437Gln Single submitter ⚠
- p.His527Arg Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Ile198Phe Single submitter ⚠
- p.Ile198Thr Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Ile19Val Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Ile239Val Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Ile252Val Single submitter ⚠
- p.Ile261Val Single submitter ⚠
- p.Ile289Val Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Ile291Thr Single submitter Inborn genetic diseases ⚠
- p.Ile291Val Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Ile321Thr Single submitter epilepsy, familial temporal lobe, 1 ⚠
- p.Ile335Val Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Ile400Ser Single submitter ⚠
- p.Ile468Thr Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Leu120= Single submitter autosomal dominant epilepsy with auditory features
- p.Leu120Val Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Leu144Phe Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Leu151Phe Single submitter ⚠
- p.Leu16Pro Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Leu25Phe Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Leu26Phe Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Leu29Pro Single submitter ⚠
- p.Leu302Pro Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Leu30Phe Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Leu482Pro Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Leu492Phe Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Leu517Ile Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Leu536fs Single submitter epilepsy, familial temporal lobe, 1
- p.Leu54Ser Single submitter ⚠
- p.Leu72= Single submitter autosomal dominant epilepsy with auditory features
- p.Leu96Phe Single submitter Inborn genetic diseases ⚠
- p.Lys208Asn Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Lys259Arg Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Lys328Arg Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Lys331Thr Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Lys353Gln Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Lys35Arg Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Lys361Gln Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Lys39Arg Single submitter Inborn genetic diseases ⚠
- p.Lys41Arg Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Lys436Glu Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Lys549Asn Single submitter ⚠
- p.Met458Thr Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Met471Ile Single submitter ⚠
- p.Phe103Ser Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Phe121Ile Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Phe135Leu Single submitter ⚠
- p.Phe22Ile Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Phe314Tyr Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Phe511Leu Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Phe514Cys Single submitter ⚠
- p.Phe537Cys Single submitter ⚠
- p.Phe74Ser Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Phe98Leu Single submitter ⚠
- p.Pro115Ser Single submitter ⚠
- p.Pro155Leu Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Pro15Arg Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Pro15Ser Single submitter Inborn genetic diseases ⚠
- p.Pro203His Single submitter intellectual disability ⚠
- p.Pro204Arg Single submitter ⚠
- p.Pro204Ser Single submitter ⚠
- p.Pro204Thr Single submitter epilepsy, familial temporal lobe, 1 ⚠
- p.Pro288Ser Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Pro37Gln Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Pro391Ser Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Pro397Leu Single submitter autosomal dominant epilepsy with auditory features
- p.Pro427Thr Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Pro66Ala Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Ser213Arg Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Ser236Leu Single submitter epilepsy, familial temporal lobe, 1 ⚠
- p.Ser27Pro Single submitter ⚠
- p.Ser351Ile Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Ser369Cys Single submitter ⚠
- p.Ser463Phe Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Ser473Pro Single submitter epilepsy, familial temporal lobe, 1 ⚠
- p.Ser524Ala Single submitter epilepsy, familial temporal lobe, 1 ⚠
- p.Ser529Phe Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Ser556Asn Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Ser6Arg Single submitter ⚠
- p.Ser83Leu Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Thr134Ile Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Thr166Pro Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Thr191Asn Single submitter autosomal dominant epilepsy with auditory features
- p.Thr241Asn Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Thr271Asn Single submitter Inborn genetic diseases ⚠
- p.Thr279Arg Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Thr390Ile Single submitter Inborn genetic diseases ⚠
- p.Thr449Ile Single submitter ⚠
- p.Thr64Ser Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Trp183Arg Single submitter ⚠
- p.Trp187Cys Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Trp344Gly Single submitter Inborn genetic diseases ⚠
- p.Tyr21Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr21His Single submitter Inborn genetic diseases ⚠
- p.Tyr296Cys Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Tyr309Asn Single submitter Inborn genetic diseases ⚠
- p.Tyr377Ser Single submitter ⚠
- p.Tyr411Asp Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Val105Met Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Val250Gly Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Val268Gly Single submitter ⚠
- p.Val285Leu Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Val290Gly Single submitter Inborn genetic diseases ⚠
- p.Val347Ala Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Val435Met Single submitter ⚠
- p.Val440Ala Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Val444Glu Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Val444Met Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Val457Ala Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Val478Ala Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Val478Met Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Val501Met Single submitter ⚠
- p.Val551Ala Single submitter autosomal dominant epilepsy with auditory features ⚠
- p.Val69Ala Single submitter autosomal dominant epilepsy with auditory features ⚠