STX1B — 441 ClinVar variants
All ClinVar germline STX1B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 143 flagged for review →
31 Pathogenic · 2 Pathogenic/Likely pathogenic · 36 Likely pathogenic · 12 Conflicting · 21 Benign · 7 Benign/Likely benign · 164 Likely benign · 168 Uncertain significance
Full STX1B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 143
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.
-
STX1B p.Ser98Asn
Likely pathogenic
Single submitter
generalized epilepsy with febrile seizures plus, type 9
Predictors agree, ClinVar conflicts 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
STX1B p.Ala11Val
Conflicting
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Ala59Thr
Conflicting
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Arg231Cys
Conflicting
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Asn192Ser
Conflicting
Single submitter
Inborn genetic diseases
-
STX1B p.Val88Phe
Conflicting
Single submitter
generalized epilepsy with febrile seizures plus, type 9
Predictors lean, ClinVar uncertain 79
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
STX1B p.Ala62Ser
Uncertain significance
Multiple submitters
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Ala63Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STX1B p.Arg143His
Uncertain significance
Multiple submitters
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Arg150Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STX1B p.Arg261Trp
Uncertain significance
Multiple submitters
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Arg89Trp
Uncertain significance
Multiple submitters
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Cys271Arg
Uncertain significance
Multiple submitters
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Gln72Arg
Uncertain significance
Multiple submitters
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Glu210Lys
Uncertain significance
Multiple submitters
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Glu233Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STX1B p.Gly41Ser
Uncertain significance
Multiple submitters
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Ile175Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STX1B p.Ile43Phe
Uncertain significance
Multiple submitters
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Leu168Pro
Uncertain significance
Multiple submitters
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Leu204Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STX1B p.Lys12Arg
Uncertain significance
Multiple submitters
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Lys252Ile
Uncertain significance
Multiple submitters
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Lys71Thr
Uncertain significance
Multiple submitters
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Phe32Leu
Uncertain significance
Multiple submitters
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Ser47Leu
Uncertain significance
Multiple submitters
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Thr155Ala
Uncertain significance
Multiple submitters
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Ala135Thr
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Ala59Ser
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Ala94Thr
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Ala94Val
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
- STX1B p.Arg113Pro Uncertain significance Single submitter
-
STX1B p.Arg115Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
STX1B p.Arg209Cys
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Arg245Gln
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Arg25Gln
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Arg262Lys
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Arg9Gln
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Asn134Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
STX1B p.Asn161Ser
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Asp178Gly
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Asp183Val
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
- STX1B p.Asp217His Uncertain significance Single submitter
-
STX1B p.Asp67Glu
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
- STX1B p.Gln52Lys Uncertain significance Single submitter
-
STX1B p.Gln6Glu
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Glu38Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
STX1B p.Glu48Gln
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Gly104Glu
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Gly283Arg
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
- STX1B p.His238Asn Uncertain significance Single submitter
-
STX1B p.Ile180Met
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Ile208Asn
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Ile208Val
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
- STX1B p.Ile229Thr Uncertain significance Single submitter
-
STX1B p.Ile232Met
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Ile282Asn
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Ile60Val
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Leu105Val
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Leu164Pro
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Leu191Pro
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
- STX1B p.Leu204Met Uncertain significance Single submitter
-
STX1B p.Leu211Pro
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Leu211Val
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Leu274Pro
Uncertain significance
Single submitter
neurodevelopmental disorder
-
STX1B p.Leu278Ser
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
- STX1B p.Leu92Trp Uncertain significance Single submitter
- STX1B p.Lys172Asn Uncertain significance Single submitter
-
STX1B p.Lys181Arg
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Lys54Arg
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Lys82Glu
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Met167Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
STX1B p.Met218Val
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
- STX1B p.Met228Thr Uncertain significance Single submitter
-
STX1B p.Met228Val
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Met266Ile
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Ser90Ala
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Thr136Ser
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Thr155Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
STX1B p.Thr158Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
STX1B p.Thr160Ile
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
- STX1B p.Tyr234Ser Uncertain significance Single submitter
- STX1B p.Tyr256His Uncertain significance Single submitter
-
STX1B p.Val21Ala
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Val23Met
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
Predictors split 58
The independent predictors disagree with each other — read with care.
-
STX1B p.Ala190Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STX1B p.Ala279Val
Uncertain significance
Multiple submitters
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Arg209His
Uncertain significance
Multiple submitters
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Arg231His
Uncertain significance
Multiple submitters
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Asp146Val
Uncertain significance
Multiple submitters
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Gln149Arg
Uncertain significance
Multiple submitters
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Gln35Lys
Uncertain significance
Multiple submitters
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Gln97Glu
Uncertain significance
Multiple submitters
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Ile268Val
Uncertain significance
Multiple submitters
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Ser258Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STX1B p.Ser98Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STX1B p.Thr196Met
Uncertain significance
Multiple submitters
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Ala110Val
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Ala85Ser
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Ala94Pro
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Arg107Cys
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Arg107His
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
- STX1B p.Arg245Pro Uncertain significance Single submitter
-
STX1B p.Arg25Gly
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Arg4Gln
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Asn199Asp
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
- STX1B p.Asn86Lys Uncertain significance Single submitter
- STX1B p.Asp146His Uncertain significance Single submitter
-
STX1B p.Asp166Gly
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Asp213Asn
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
- STX1B p.Glu233Asp Uncertain significance Single submitter
- STX1B p.Glu38Gln Likely benign Single submitter
-
STX1B p.Glu51Lys
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Glu7Lys
Likely pathogenic
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Gly275Arg
Likely pathogenic
Single submitter
generalized epilepsy with febrile seizures plus, type 9
- STX1B p.Gly275Glu Uncertain significance Single submitter
-
STX1B p.Gly283Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
STX1B p.Gly283Val
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Gly284Arg
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
- STX1B p.Ile267Val Uncertain significance Single submitter
-
STX1B p.Ile269Leu
Conflicting
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Ile282Thr
Conflicting
Single submitter
STX1B-related developmental and epileptic encephalopathy
-
STX1B p.Ile99Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
STX1B p.Leu105Pro
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
- STX1B p.Leu112Met Uncertain significance Single submitter
-
STX1B p.Leu274Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
STX1B p.Lys2Asn
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Lys2Glu
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Lys55Gln
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Lys69Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- STX1B p.Lys69Thr Uncertain significance Single submitter
- STX1B p.Lys87Met Uncertain significance Single submitter
-
STX1B p.Met218Leu
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Ser170Arg
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
- STX1B p.Ser239Pro Likely pathogenic Single submitter
-
STX1B p.Ser281Pro
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Thr131Ala
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Thr187Met
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Thr285Met
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
-
STX1B p.Thr84Met
Uncertain significance
Single submitter
generalized epilepsy with febrile seizures plus, type 9
- STX1B p.Val236Met Uncertain significance Single submitter
- STX1B p.Val50Met Uncertain significance Single submitter
- STX1B p.Val53Met Uncertain significance Single submitter
All STX1B variants
Pathogenic 31
- p.Ala135fs Multiple submitters generalized epilepsy with febrile seizures plus, type 9
- p.Arg245Ter Multiple submitters Inborn genetic diseases
- c.205_205+1del Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.338_354+15del Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.354+1G>C Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.463+1G>A Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.537+2T>C Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.786+1G>A Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.786+1G>T Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Ala85fs Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Asp13fs Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Cys144Arg Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Gln151Ter Single submitter generalized epilepsy
- p.Gln185fs Single submitter
- p.Gln189Ter Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Gln56fs Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Glu128fs Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Glu205Ter Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Gly283fs Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Leu112fs Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Lys54Ter Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Met1Lys Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Ser123fs Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Ser47Ter Single submitter neurodevelopmental disorder
- p.Tyr242Ter Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Val20fs Single submitter
- p.Val272fs Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Gln56Ter No assertion criteria generalized epilepsy with febrile seizures plus, type 9
- p.Glu96Ter No assertion criteria generalized epilepsy with febrile seizures plus
- p.Gly226Arg No assertion criteria generalized epilepsy with febrile seizures plus, type 9
- p.Val216Glu No assertion criteria generalized epilepsy with febrile seizures plus, type 9
Pathogenic/Likely pathogenic 2
- p.Gln72Ter Multiple submitters generalized epilepsy with febrile seizures plus, type 9
- p.Glu132Ter Multiple submitters generalized epilepsy with febrile seizures plus, type 9
Likely pathogenic 36
- c.30+1G>A Multiple submitters STX1B-related disorder
- c.105+1_105+2delinsAA Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.106-1G>C Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.106-2A>G Single submitter Inborn genetic diseases
- c.205+1G>A Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.205+2_205+3del Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.205+2T>C Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.281-2A>C Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.281-41_294del Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.354+1G>A Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.354+2T>C Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.355-1_355delinsAA Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.355-1G>A Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.355-2A>G Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.464-1G>T Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.537+2T>A Single submitter
- c.675+1G>A Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.676-2A>G Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Ala260fs Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Arg115Pro Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Arg157fs Single submitter STX1B-related disorder
- p.Cys144Phe Single submitter Inborn genetic diseases
- p.Gln225Ter Single submitter STX1B-related disorder
- p.Glu7Lys Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Gly275Arg Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Ile229_Asp230delinsAsn Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Lys116fs Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Met220_Leu221insAlaMet Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Ser108fs Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Ser239Phe Single submitter Epileptic encephalopathy
- p.Ser239Pro Single submitter ⚠
- p.Ser98Asn Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Ter289GlyextTer? Single submitter STX1B-related disorder
- p.Thr285fs Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Tyr234Ter Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Tyr256Ter Single submitter Inborn genetic diseases
Conflicting classifications of pathogenicity 12
- c.280+10A>G Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.463+5G>C Single submitter Inborn genetic diseases
- c.463+5G>T Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Ala11Val Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Ala59Thr Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Arg231Cys Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Asn192Ser Single submitter Inborn genetic diseases ⚠
- p.Ile269Leu Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Ile282Thr Single submitter STX1B-related developmental and epileptic encephalopathy ⚠
- p.Ile43Thr Single submitter Inborn genetic diseases
- p.Val36= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Val88Phe Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
Benign 21
- c.105+37C>A Multiple submitters generalized epilepsy with febrile seizures plus, type 9
- c.105+69C>T Multiple submitters
- c.281-129A>G Multiple submitters
- c.463+29G>A Multiple submitters
- c.538-121G>A Multiple submitters
- c.538-7A>G Multiple submitters Inborn genetic diseases
- c.786+7G>A Multiple submitters generalized epilepsy with febrile seizures plus, type 9
- c.-163C>A Multiple submitters
- p.Ser280= Multiple submitters Inborn genetic diseases
- c.106-15G>A Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.281-9C>T Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.30+13del Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.31-220G>A Single submitter
- c.355-14del Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.355-14dup Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.463+15del Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.*127_*128insTCCTCCACCCC Single submitter
- c.*178_*179dup Single submitter
- c.*179del Single submitter
- c.*179dup Single submitter
- p.Phe32= Single submitter generalized epilepsy with febrile seizures plus, type 9
Benign/Likely benign 7
- c.105+10C>T Multiple submitters generalized epilepsy with febrile seizures plus, type 9
- c.205+16G>A Multiple submitters generalized epilepsy with febrile seizures plus, type 9
- c.355-8C>G Multiple submitters generalized epilepsy with febrile seizures plus, type 9
- c.538-5C>G Multiple submitters generalized epilepsy with febrile seizures plus, type 9
- p.Ala279= Multiple submitters Inborn genetic diseases
- p.Gly171= Multiple submitters Inborn genetic diseases
- p.Lys203= Multiple submitters generalized epilepsy with febrile seizures plus, type 9
Likely benign 164
- c.205+15C>T Multiple submitters generalized epilepsy with febrile seizures plus, type 9
- c.206-13G>A Multiple submitters generalized epilepsy with febrile seizures plus, type 9
- c.786+6C>T Multiple submitters generalized epilepsy with febrile seizures plus, type 9
- c.*271C>T Multiple submitters
- c.*9dup Multiple submitters
- p.Ala11= Multiple submitters generalized epilepsy with febrile seizures plus, type 9
- p.Ala260= Multiple submitters Inborn genetic diseases
- p.Ala62= Multiple submitters generalized epilepsy with febrile seizures plus, type 9
- p.Ala94= Multiple submitters generalized epilepsy with febrile seizures plus, type 9
- p.Arg25= Multiple submitters generalized epilepsy with febrile seizures plus, type 9
- p.Arg261= Multiple submitters generalized epilepsy with febrile seizures plus, type 9
- p.Gly284= Multiple submitters Inborn genetic diseases
- p.Gly287= Multiple submitters generalized epilepsy with febrile seizures plus, type 9
- p.His57= Multiple submitters generalized epilepsy with febrile seizures plus, type 9
- p.Ile232= Multiple submitters generalized epilepsy with febrile seizures plus, type 9
- p.Leu221= Multiple submitters generalized epilepsy with febrile seizures plus, type 9
- p.Ser47= Multiple submitters generalized epilepsy with febrile seizures plus, type 9
- p.Ser58= Multiple submitters generalized epilepsy with febrile seizures plus, type 9
- p.Thr136= Multiple submitters generalized epilepsy with febrile seizures plus, type 9
- p.Thr285= Multiple submitters generalized epilepsy with febrile seizures plus, type 9
- p.Tyr242= Multiple submitters generalized epilepsy with febrile seizures plus, type 9
- c.105+19C>T Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.106-12T>C Single submitter
- c.106-16C>G Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.206-10C>T Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.206-14C>T Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.206-5C>G Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.206-6C>T Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.206-7C>T Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.206-8C>T Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.280+14_280+21del Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.280+17C>T Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.280+18T>G Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.281-11C>T Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.281-13C>T Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.281-68G>A Single submitter
- c.281-7C>T Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.281-8T>C Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.30+10G>A Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.30+10G>C Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.30+14T>G Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.30+15G>C Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.30+19A>T Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.30+8T>G Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.31-15C>T Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.31-19C>T Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.31-208A>G Single submitter
- c.31-20T>C Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.31-6C>G Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.354+15C>T Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.354+18A>G Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.354+19T>C Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.354+6dup Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.355-15C>A Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.355-15C>G Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.355-15C>T Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.355-17C>A Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.355-19C>A Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.355-4G>C Single submitter
- c.355-4G>T Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.355-5C>T Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.355-7A>C Single submitter
- c.463+10C>T Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.463+13C>T Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.463+15C>A Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.463+15C>G Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.463+16A>C Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.463+17C>T Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.463+6T>A Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.463+9G>T Single submitter
- c.464-19G>T Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.464-20G>C Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.464-4G>A Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.464-5C>T Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.464-7C>T Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.464-9T>G Single submitter
- c.537+10G>A Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.537+10G>C Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.537+11G>T Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.537+13T>G Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.537+14G>A Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.537+16G>C Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.537+8G>C Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.538-10G>A Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.538-11C>T Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.538-17C>G Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.538-18T>C Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.538-19C>T Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.538-8_538-7inv Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.675+11T>C Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.675+13C>T Single submitter
- c.675+17C>T Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.675+20T>A Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.676-11T>C Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.676-17G>A Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.676-18T>C Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.676-6C>T Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.676-7_676-4del Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.676-8G>A Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.786+15C>G Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.786+15C>T Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.786+16G>A Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.786+17G>T Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.786+9G>C Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.787-11T>A Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.787-11T>C Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.787-13_787-12del Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.787-13C>T Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.787-15_787-13del Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.787-15C>T Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.787-18C>T Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.787-19_787-16del Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.787-9C>G Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.-25GAG[4] Single submitter
- c.*10A>C Single submitter
- c.*171_*172insGC Single submitter
- c.*174C>T Single submitter
- c.*9C>A Single submitter
- p.Ala174= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Ala190= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Ala79= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Arg124= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Arg141= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Arg150= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Arg209= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Arg261Gln Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Arg40= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Asp142= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Asp146= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Asp16= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Asp178= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Asp26= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Asp49= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Cys144= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Gln185= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Glu38= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Glu38Gln Single submitter ⚠
- p.Glu48= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Gly104= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Gly283= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.His212= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Ile229= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Ile268= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Leu168= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Leu204= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Leu288= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Leu46= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Leu92= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Lys139= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Phe126= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Phe28= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Pro66= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Ser109= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Ser184= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Thr158= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Thr187= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Thr196= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Thr5= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Thr84= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Tyr133= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Val20= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Val23= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Val247= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Val276= Single submitter generalized epilepsy with febrile seizures plus, type 9
Uncertain significance 168
- c.205+5G>A Multiple submitters generalized epilepsy with febrile seizures plus, type 9
- c.463+3G>T Multiple submitters Inborn genetic diseases
- p.Ala190Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala279Val Multiple submitters generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Ala62Ser Multiple submitters generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Ala63Ser Multiple submitters Inborn genetic diseases ⚠
- p.Arg143His Multiple submitters generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Arg150Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg209His Multiple submitters generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Arg231His Multiple submitters generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Arg261Trp Multiple submitters generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Arg89Trp Multiple submitters generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Asp146Val Multiple submitters generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Cys271Arg Multiple submitters generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Gln149Arg Multiple submitters generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Gln35Lys Multiple submitters generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Gln72Arg Multiple submitters generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Gln97Glu Multiple submitters generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Glu210Lys Multiple submitters generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Glu233Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly41Ser Multiple submitters generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Ile175Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile268Val Multiple submitters generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Ile43Phe Multiple submitters generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Leu168Pro Multiple submitters generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Leu204Val Multiple submitters Inborn genetic diseases ⚠
- p.Lys12Arg Multiple submitters generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Lys252Ile Multiple submitters generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Lys71Thr Multiple submitters generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Phe32Leu Multiple submitters generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Ser109Pro Multiple submitters generalized epilepsy with febrile seizures plus, type 9
- p.Ser258Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser47Leu Multiple submitters generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Ser98Thr Multiple submitters Inborn genetic diseases ⚠
- p.Thr155Ala Multiple submitters generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Thr196Met Multiple submitters generalized epilepsy with febrile seizures plus, type 9 ⚠
- c.106-20T>G Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.106-6C>T Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.205+5G>C Single submitter Inborn genetic diseases
- c.205+6T>C Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.206-7C>A Single submitter
- c.280+3G>A Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.30+3G>C Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.31-5C>A Single submitter Inborn genetic diseases
- c.355-3T>C Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.463+4C>A Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.537+15G>A Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.537+3G>C Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.538-7_538-6insG Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.538-8C>T Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.786+5G>A Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.787-3C>A Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.-15_-4dup Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.*4C>A Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.*7C>G Single submitter
- c.*9C>G Single submitter generalized epilepsy with febrile seizures plus, type 9
- c.*9C>T Single submitter
- p.Ala110Val Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Ala135Thr Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Ala59Ser Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Ala85Ser Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Ala94Pro Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Ala94Thr Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Ala94Val Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Arg107Cys Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Arg107His Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Arg113Pro Single submitter ⚠
- p.Arg115Cys Single submitter Inborn genetic diseases ⚠
- p.Arg209Cys Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Arg245Gln Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Arg245Pro Single submitter ⚠
- p.Arg25Gln Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Arg25Gly Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Arg262Lys Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Arg4Gln Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Arg9Gln Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Asn134Thr Single submitter Inborn genetic diseases ⚠
- p.Asn161Ser Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Asn199Asp Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Asn86Lys Single submitter ⚠
- p.Asp146His Single submitter ⚠
- p.Asp166Gly Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Asp178Gly Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Asp183Val Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Asp213Asn Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Asp217His Single submitter ⚠
- p.Asp67Glu Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Gln52Lys Single submitter ⚠
- p.Gln56= Single submitter
- p.Gln6Glu Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Glu163del Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Glu233Asp Single submitter ⚠
- p.Glu38Asp Single submitter Inborn genetic diseases ⚠
- p.Glu48Gln Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Glu51Lys Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Gly104Glu Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Gly275Glu Single submitter ⚠
- p.Gly283Ala Single submitter Inborn genetic diseases ⚠
- p.Gly283Arg Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Gly283Val Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Gly284Arg Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.His238Arg Single submitter
- p.His238Asn Single submitter ⚠
- p.Ile180Met Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Ile202del Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Ile208Asn Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Ile208Val Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Ile229Thr Single submitter ⚠
- p.Ile232Met Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Ile267Val Single submitter ⚠
- p.Ile282Asn Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Ile60Val Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Ile99Thr Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Ile99Val Single submitter Inborn genetic diseases ⚠
- p.Leu105Pro Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Leu105Val Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Leu112Met Single submitter ⚠
- p.Leu164Pro Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Leu191Pro Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Leu204Met Single submitter ⚠
- p.Leu211Pro Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Leu211Val Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Leu274Pro Single submitter neurodevelopmental disorder ⚠
- p.Leu274Val Single submitter Inborn genetic diseases ⚠
- p.Leu278Ser Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Leu92Trp Single submitter ⚠
- p.Lys125_Val129delinsAsnIle Single submitter
- p.Lys172Asn Single submitter ⚠
- p.Lys181Arg Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Lys2Asn Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Lys2Glu Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Lys54Arg Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Lys55Gln Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Lys69Gln Single submitter Inborn genetic diseases ⚠
- p.Lys69Thr Single submitter ⚠
- p.Lys82Glu Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Lys83del Single submitter
- p.Lys87Met Single submitter ⚠
- p.Met167Thr Single submitter Inborn genetic diseases ⚠
- p.Met1Leu Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Met1Val Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Met218Leu Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Met218Val Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Met228Thr Single submitter ⚠
- p.Met228Val Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Met266Ile Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Ser170Arg Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Ser207Gly Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Ser258= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Ser281Pro Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Ser90Ala Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Ter289Gln Single submitter
- p.Thr131Ala Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Thr136Ser Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Thr155Ile Single submitter Inborn genetic diseases ⚠
- p.Thr158Pro Single submitter Inborn genetic diseases ⚠
- p.Thr160Ile Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Thr187Met Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Thr285Met Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Thr84Met Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Tyr234Ser Single submitter ⚠
- p.Tyr256His Single submitter ⚠
- p.Val21Ala Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Val236Met Single submitter ⚠
- p.Val23Met Single submitter generalized epilepsy with febrile seizures plus, type 9 ⚠
- p.Val50Met Single submitter ⚠
- p.Val53= Single submitter generalized epilepsy with febrile seizures plus, type 9
- p.Val53Met Single submitter ⚠