GLRB — 448 ClinVar variants
All ClinVar germline GLRB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 159 flagged for review →
17 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 10 Conflicting · 44 Benign · 10 Benign/Likely benign · 154 Likely benign · 209 Uncertain significance
Full GLRB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 159
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 6
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
GLRB p.Ala318Thr
Conflicting
Single submitter
hyperekplexia 2
-
GLRB p.Arg62Lys
Conflicting
Single submitter
Inborn genetic diseases
-
GLRB p.Leu486Phe
Conflicting
Single submitter
Inborn genetic diseases
-
GLRB p.Lys31Arg
Conflicting
Single submitter
hyperekplexia 2
-
GLRB p.Pro69Ser
Conflicting
Single submitter
Inborn genetic diseases
-
GLRB p.Tyr246His
Conflicting
Single submitter
hyperekplexia 2
Predictors lean, ClinVar uncertain 104
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
GLRB p.Arg115Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GLRB p.Arg472Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GLRB p.Asn356Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GLRB p.Gln372Lys
Uncertain significance
Multiple submitters
hyperekplexia 2
-
GLRB p.Glu18Lys
Uncertain significance
Multiple submitters
hyperekplexia 2
-
GLRB p.Glu346Gly
Uncertain significance
Multiple submitters
hyperekplexia 2
-
GLRB p.Gly32Glu
Uncertain significance
Multiple submitters
hyperekplexia 2
-
GLRB p.Ile13Val
Uncertain significance
Multiple submitters
hyperekplexia 2
-
GLRB p.Leu12Val
Uncertain significance
Multiple submitters
hyperekplexia 2
-
GLRB p.Leu283Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GLRB p.Leu448Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GLRB p.Phe231Ser
Uncertain significance
Multiple submitters
hyperekplexia 2
-
GLRB p.Phe3Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GLRB p.Ser305Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GLRB p.Trp139Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GLRB p.Val103Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GLRB p.Val171Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GLRB p.Val17Leu
Uncertain significance
Multiple submitters
hyperekplexia 2
-
GLRB p.Ala151Thr
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Ala20Val
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Ala335Val
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Ala365Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLRB p.Ala381Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLRB p.Ala453Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLRB p.Ala469Thr
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Arg108Thr
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Arg167His
Uncertain significance
Single submitter
hyperekplexia 2
- GLRB p.Arg176Thr Uncertain significance Single submitter
-
GLRB p.Arg196His
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Arg359Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLRB p.Arg478Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLRB p.Arg50Gln
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Arg50Leu
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Asn112Ile
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Asn152Ser
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Asn446Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLRB p.Asn489Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLRB p.Asp193Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLRB p.Asp219Asn
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Asp232Gly
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Cys137Arg
Uncertain significance
Single submitter
hyperekplexia 2
- GLRB p.Cys255Trp Uncertain significance Single submitter
-
GLRB p.Gln109Lys
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Gln43Glu
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Gln95Arg
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Glu361Lys
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Glu371Lys
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Gly218Glu
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Gly218Val
Uncertain significance
Single submitter
Inborn genetic diseases
- GLRB p.Gly241Ser Uncertain significance Single submitter
-
GLRB p.Gly377Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLRB p.Gly377Cys
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Gly77Arg
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Gly92Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLRB p.Ile226Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLRB p.Ile233Val
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Ile334Met
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Ile442Val
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Ile473Val
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Ile71Arg
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Leu187Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLRB p.Leu189Phe
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Leu262Val
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Leu475Pro
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Leu486Val
Uncertain significance
Single submitter
hyperekplexia 2
- GLRB p.Leu48Phe Uncertain significance Single submitter
-
GLRB p.Lys225Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLRB p.Lys234Arg
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Lys33Glu
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Lys76Gln
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Met199Arg
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Phe3Tyr
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Phe91Ser
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Pro321Ser
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Pro459Ala
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Pro460Ser
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Pro461Thr
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Pro464Thr
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Ser150Gly
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Ser150Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLRB p.Ser178Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLRB p.Ser182Pro
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Ser311Pro
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Ser343Phe
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Ser93Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLRB p.Ser93Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLRB p.Thr207Ala
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Thr207Ile
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Thr250Arg
Uncertain significance
Single submitter
hyperekplexia 2
- GLRB p.Thr250Met Uncertain significance Single submitter
-
GLRB p.Thr261Ile
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Trp111Arg
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Trp285Gly
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Trp493Cys
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Trp493Ser
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Tyr101Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLRB p.Tyr101His
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLRB p.Tyr240Cys
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Tyr325Cys
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Tyr347Asp
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Val17Met
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Val282Ile
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Val393Leu
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Val84Ile
Uncertain significance
Single submitter
hyperekplexia 2
Predictors split 49
The independent predictors disagree with each other — read with care.
-
GLRB p.Ala310Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GLRB p.Asn418Lys
Uncertain significance
Multiple submitters
hyperekplexia 2
-
GLRB p.Asn489Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GLRB p.Asp126Val
Uncertain significance
Multiple submitters
hyperekplexia 2
-
GLRB p.Asp429Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GLRB p.Cys405Gly
Uncertain significance
Multiple submitters
hyperekplexia 2
-
GLRB p.Gly205Ser
Uncertain significance
Multiple submitters
hyperekplexia 2
-
GLRB p.Leu223Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GLRB p.Phe166Leu
Uncertain significance
Multiple submitters
hyperekplexia 2
-
GLRB p.Val352Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GLRB p.Ala146Thr
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Ala294Val
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Ala373Pro
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Ala8Pro
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Arg167Leu
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Arg196Cys
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Arg478Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLRB p.Arg72Lys
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Asn291Lys
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Asp330Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLRB p.Asp419Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLRB p.Asp429Gly
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Asp429His
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Gln351Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLRB p.Glu371Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLRB p.Gly249Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLRB p.Gly302Ser
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Gly424Val
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Ile161Asn
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Ile161Phe
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Ile233Thr
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Ile238Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLRB p.Ile280Val
Conflicting
Single submitter
Inborn genetic diseases
-
GLRB p.Leu10Ser
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Leu181Val
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Leu307Ile
Uncertain significance
Single submitter
Hypotonia
-
GLRB p.Lys364Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLRB p.Lys457Asn
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Met192Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLRB p.Phe339Leu
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Pro184Leu
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Pro467Ser
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Ser417Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLRB p.Ser425Asn
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Thr180Ala
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Thr277Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
GLRB p.Thr97Ile
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Val256Met
Uncertain significance
Single submitter
hyperekplexia 2
-
GLRB p.Val282Phe
Uncertain significance
Single submitter
hyperekplexia 2
All GLRB variants
Pathogenic 17
- c.298-1G>A Multiple submitters hyperekplexia 2
- p.Arg212Ter Multiple submitters hyperekplexia 2
- c.122+1G>A Single submitter hyperekplexia 2
- c.123-2A>G Single submitter hyperekplexia 2
- p.Arg50Ter Single submitter hyperekplexia 2
- p.Cys255fs Single submitter hyperekplexia 2
- p.Gln158fs Single submitter hyperekplexia 2
- p.Gln372Ter Single submitter hyperekplexia 2
- p.Gly124fs Single submitter hyperekplexia 2
- p.Lys235fs Single submitter hyperekplexia 2
- p.Lys31fs Single submitter hyperekplexia 2
- p.Phe9_Leu10insTer Single submitter hyperekplexia 2
- p.Ser150fs Single submitter hyperekplexia 2
- p.Tyr206Ter Single submitter hyperekplexia 2
- p.Tyr252Ter Single submitter hyperekplexia 2
- p.Val408fs Single submitter hyperekplexia 2
- p.Gly251Asp No assertion criteria hyperekplexia 2
Pathogenic/Likely pathogenic 1
- c.610+5G>A Multiple submitters GLRB-related disorders
Likely pathogenic 3
- c.122+1G>C Single submitter hyperekplexia 2
- c.297+1G>T Single submitter hyperekplexia 2
- p.Arg264Trp Single submitter Seizure
Conflicting classifications of pathogenicity 10
- p.Ala318Thr Single submitter hyperekplexia 2 ⚠
- p.Arg472Ter Single submitter Inborn genetic diseases
- p.Arg62Lys Single submitter Inborn genetic diseases ⚠
- p.Arg70= Single submitter hyperekplexia 2
- p.Ile280Val Single submitter Inborn genetic diseases ⚠
- p.Leu486Phe Single submitter Inborn genetic diseases ⚠
- p.Lys31Arg Single submitter hyperekplexia 2 ⚠
- p.Pro69Ser Single submitter Inborn genetic diseases ⚠
- p.Tyr246His Single submitter hyperekplexia 2 ⚠
- p.Tyr274= Single submitter hyperekplexia 2
Benign 44
- c.122+4T>A Multiple submitters hyperekplexia 2
- c.123-117G>A Multiple submitters
- c.229+82G>A Multiple submitters
- c.297+10C>T Multiple submitters hyperekplexia 2
- c.297+71T>C Multiple submitters
- c.297+86C>T Multiple submitters
- c.611-14G>A Multiple submitters hyperekplexia 2
- c.611-66A>G Multiple submitters
- c.-102T>C Multiple submitters hyperekplexia 2
- c.-16A>T Multiple submitters hyperekplexia 2
- c.-26G>T Multiple submitters hyperekplexia 2
- c.*1040A>G Multiple submitters hyperekplexia 2
- c.*1181C>T Multiple submitters hyperekplexia 2
- c.*139G>A Multiple submitters hyperekplexia 2
- c.*160G>A Multiple submitters hyperekplexia 2
- c.*542T>A Multiple submitters hyperekplexia 2
- c.*84G>A Multiple submitters hyperekplexia 2
- c.*853T>C Multiple submitters hyperekplexia 2
- p.Ala462Gly Multiple submitters hyperekplexia 2
- p.Thr277= Multiple submitters hyperekplexia 2
- c.1197+196G>A Single submitter
- c.122+230T>C Single submitter
- c.123-118dup Single submitter
- c.229+138T>C Single submitter
- c.229+154A>G Single submitter
- c.230-165C>T Single submitter
- c.230-198C>T Single submitter
- c.230-199del Single submitter
- c.298-7dup Single submitter hyperekplexia 2
- c.751+178del Single submitter
- c.-182C>G Single submitter hyperekplexia 2
- c.-212G>A Single submitter hyperekplexia 2
- c.-29-8T>C Single submitter hyperekplexia 2
- c.-69C>T Single submitter hyperekplexia 2
- c.*1345A>G Single submitter hyperekplexia 2
- c.*23A>G Single submitter hyperekplexia 2
- c.*251A>G Single submitter hyperekplexia 2
- c.*301C>T Single submitter hyperekplexia 2
- c.*334T>C Single submitter hyperekplexia 2
- c.*505T>A Single submitter hyperekplexia 2
- c.*575T>C Single submitter hyperekplexia 2
- c.*903T>C Single submitter hyperekplexia 2
- c.*997A>T Single submitter hyperekplexia 2
- p.Asp209Glu Single submitter hyperekplexia 2
Benign/Likely benign 10
- c.1198-16C>A Multiple submitters hyperekplexia 2
- c.229+8T>G Multiple submitters hyperekplexia 2
- c.527+7T>C Multiple submitters hyperekplexia 2
- c.904+4A>G Multiple submitters hyperekplexia 2
- c.904+4A>T Multiple submitters hyperekplexia 2
- p.Ala348= Multiple submitters hyperekplexia 2
- p.Ala462Val Multiple submitters hyperekplexia 2
- p.Cys255= Multiple submitters hyperekplexia 2
- p.Leu316= Multiple submitters hyperekplexia 2
- p.Pro460= Multiple submitters hyperekplexia 2
Likely benign 154
- c.298-13A>C Multiple submitters hyperekplexia 2
- c.298-19G>T Multiple submitters hyperekplexia 2
- c.298-6del Multiple submitters hyperekplexia 2
- c.905-15T>C Multiple submitters hyperekplexia 2
- p.Ala151= Multiple submitters hyperekplexia 2
- p.Asn446= Multiple submitters hyperekplexia 2
- p.Asp293= Multiple submitters hyperekplexia 2
- p.Gln230= Multiple submitters hyperekplexia 2
- p.Gly340= Multiple submitters hyperekplexia 2
- p.Pro141= Multiple submitters hyperekplexia 2
- p.Thr208= Multiple submitters hyperekplexia 2
- c.1197+14_1197+16del Single submitter hyperekplexia 2
- c.1197+14T>C Single submitter hyperekplexia 2
- c.1197+15A>G Single submitter hyperekplexia 2
- c.1197+20A>G Single submitter hyperekplexia 2
- c.1198-12A>G Single submitter hyperekplexia 2
- c.1198-15A>T Single submitter hyperekplexia 2
- c.1198-4T>C Single submitter hyperekplexia 2
- c.1198-5C>T Single submitter hyperekplexia 2
- c.122+12A>G Single submitter hyperekplexia 2
- c.122+15T>C Single submitter hyperekplexia 2
- c.122+16C>G Single submitter hyperekplexia 2
- c.123-14TC[3] Single submitter hyperekplexia 2
- c.123-16_123-14del Single submitter hyperekplexia 2
- c.123-18T>G Single submitter
- c.123-7C>T Single submitter hyperekplexia 2
- c.229+12C>T Single submitter hyperekplexia 2
- c.229+14A>G Single submitter hyperekplexia 2
- c.229+15T>C Single submitter hyperekplexia 2
- c.230-12T>A Single submitter hyperekplexia 2
- c.230-14A>C Single submitter hyperekplexia 2
- c.230-14A>T Single submitter hyperekplexia 2
- c.230-17T>A Single submitter hyperekplexia 2
- c.230-17T>C Single submitter hyperekplexia 2
- c.230-20T>A Single submitter hyperekplexia 2
- c.297+12A>G Single submitter hyperekplexia 2
- c.297+17T>C Single submitter hyperekplexia 2
- c.297+7T>C Single submitter hyperekplexia 2
- c.298-15G>T Single submitter hyperekplexia 2
- c.298-16T>C Single submitter hyperekplexia 2
- c.298-19G>A Single submitter hyperekplexia 2
- c.298-20C>T Single submitter hyperekplexia 2
- c.527+11A>G Single submitter hyperekplexia 2
- c.527+12T>A Single submitter hyperekplexia 2
- c.527+18A>G Single submitter hyperekplexia 2
- c.528-12T>C Single submitter hyperekplexia 2
- c.528-12T>G Single submitter hyperekplexia 2
- c.528-17C>T Single submitter hyperekplexia 2
- c.528-18A>G Single submitter hyperekplexia 2
- c.528-8G>A Single submitter hyperekplexia 2
- c.528-8G>C Single submitter hyperekplexia 2
- c.528-8G>T Single submitter hyperekplexia 2
- c.610+15A>T Single submitter hyperekplexia 2
- c.610+17A>C Single submitter hyperekplexia 2
- c.610+17A>G Single submitter hyperekplexia 2
- c.610+18T>A Single submitter hyperekplexia 2
- c.610+26_610+27insTTGAAATGAGAACATAATTGATT Single submitter hyperekplexia 2
- c.610+7A>C Single submitter hyperekplexia 2
- c.611-10T>C Single submitter hyperekplexia 2
- c.611-14G>T Single submitter hyperekplexia 2
- c.611-18A>G Single submitter hyperekplexia 2
- c.751+11T>C Single submitter hyperekplexia 2
- c.751+13C>G Single submitter hyperekplexia 2
- c.751+14T>C Single submitter hyperekplexia 2
- c.752-10C>T Single submitter hyperekplexia 2
- c.752-13T>C Single submitter hyperekplexia 2
- c.752-15G>A Single submitter hyperekplexia 2
- c.752-4A>G Single submitter hyperekplexia 2
- c.752-6T>C Single submitter hyperekplexia 2
- c.904+13A>G Single submitter hyperekplexia 2
- c.904+15G>A Single submitter hyperekplexia 2
- c.905-16C>T Single submitter hyperekplexia 2
- c.905-18C>A Single submitter hyperekplexia 2
- p.Ala20= Single submitter hyperekplexia 2
- p.Ala294= Single submitter hyperekplexia 2
- p.Ala310= Single submitter hyperekplexia 2
- p.Ala317= Single submitter hyperekplexia 2
- p.Ala342= Single submitter hyperekplexia 2
- p.Ala45= Single submitter hyperekplexia 2
- p.Ala453= Single submitter hyperekplexia 2
- p.Ala462= Single submitter hyperekplexia 2
- p.Ala470= Single submitter hyperekplexia 2
- p.Arg123= Single submitter hyperekplexia 2
- p.Arg359= Single submitter hyperekplexia 2
- p.Arg416= Single submitter hyperekplexia 2
- p.Arg472= Single submitter hyperekplexia 2
- p.Arg72= Single submitter hyperekplexia 2
- p.Asn147= Single submitter hyperekplexia 2
- p.Asn160= Single submitter hyperekplexia 2
- p.Asn74= Single submitter hyperekplexia 2
- p.Asn85= Single submitter hyperekplexia 2
- p.Asp155= Single submitter hyperekplexia 2
- p.Cys484= Single submitter hyperekplexia 2
- p.Gln200= Single submitter hyperekplexia 2
- p.Gln216= Single submitter hyperekplexia 2
- p.Glu148= Single submitter hyperekplexia 2
- p.Glu18= Single submitter hyperekplexia 2
- p.Glu431= Single submitter hyperekplexia 2
- p.Gly272= Single submitter hyperekplexia 2
- p.Gly32= Single submitter hyperekplexia 2
- p.Gly378Glu Single submitter hyperekplexia 2
- p.Gly449= Single submitter hyperekplexia 2
- p.Ile105Val Single submitter hyperekplexia 2
- p.Ile233= Single submitter hyperekplexia 2
- p.Ile259= Single submitter hyperekplexia 2
- p.Ile303= Single submitter hyperekplexia 2
- p.Ile491= Single submitter hyperekplexia 2
- p.Leu118= Single submitter hyperekplexia 2
- p.Leu15= Single submitter hyperekplexia 2
- p.Leu163= Single submitter hyperekplexia 2
- p.Leu177= Single submitter hyperekplexia 2
- p.Leu189= Single submitter hyperekplexia 2
- p.Leu228= Single submitter hyperekplexia 2
- p.Leu262= Single submitter hyperekplexia 2
- p.Leu279= Single submitter hyperekplexia 2
- p.Leu283= Single submitter hyperekplexia 2
- p.Leu415= Single submitter hyperekplexia 2
- p.Leu48= Single submitter hyperekplexia 2
- p.Leu5= Single submitter hyperekplexia 2
- p.Leu64= Single submitter hyperekplexia 2
- p.Lys140= Single submitter hyperekplexia 2
- p.Lys2= Single submitter hyperekplexia 2
- p.Lys358= Single submitter hyperekplexia 2
- p.Lys463= Single submitter hyperekplexia 2
- p.Phe122= Single submitter hyperekplexia 2
- p.Phe231= Single submitter hyperekplexia 2
- p.Phe430= Single submitter hyperekplexia 2
- p.Pro191= Single submitter hyperekplexia 2
- p.Pro292= Single submitter hyperekplexia 2
- p.Pro321= Single submitter hyperekplexia 2
- p.Pro40= Single submitter hyperekplexia 2
- p.Pro427= Single submitter hyperekplexia 2
- p.Pro69= Single submitter hyperekplexia 2
- p.Ser182= Single submitter hyperekplexia 2
- p.Ser22= Single submitter hyperekplexia 2
- p.Ser287= Single submitter hyperekplexia 2
- p.Ser308= Single submitter hyperekplexia 2
- p.Ser343= Single submitter hyperekplexia 2
- p.Ser44= Single submitter hyperekplexia 2
- p.Ser451= Single submitter hyperekplexia 2
- p.Thr180= Single submitter hyperekplexia 2
- p.Thr188= Single submitter hyperekplexia 2
- p.Thr207= Single submitter hyperekplexia 2
- p.Thr315= Single submitter hyperekplexia 2
- p.Thr410= Single submitter hyperekplexia 2
- p.Thr468= Single submitter hyperekplexia 2
- p.Thr56= Single submitter hyperekplexia 2
- p.Tyr135= Single submitter hyperekplexia 2
- p.Tyr247= Single submitter hyperekplexia 2
- p.Tyr269= Single submitter hyperekplexia 2
- p.Val266= Single submitter hyperekplexia 2
- p.Val282= Single submitter hyperekplexia 2
- p.Val306= Single submitter hyperekplexia 2
- p.Val84= Single submitter hyperekplexia 2
Uncertain significance 209
- c.*789A>G Multiple submitters hyperekplexia 2
- p.Ala310Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg115Met Multiple submitters Inborn genetic diseases ⚠
- p.Arg472Gln Multiple submitters Inborn genetic diseases ⚠
- p.Asn356Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn418Lys Multiple submitters hyperekplexia 2 ⚠
- p.Asn489Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp126Val Multiple submitters hyperekplexia 2 ⚠
- p.Asp429Asn Multiple submitters Inborn genetic diseases ⚠
- p.Cys405Gly Multiple submitters hyperekplexia 2 ⚠
- p.Gln372Lys Multiple submitters hyperekplexia 2 ⚠
- p.Glu18Lys Multiple submitters hyperekplexia 2 ⚠
- p.Glu346Gly Multiple submitters hyperekplexia 2 ⚠
- p.Gly205Ser Multiple submitters hyperekplexia 2 ⚠
- p.Gly241Asp Multiple submitters hyperekplexia 2
- p.Gly32Glu Multiple submitters hyperekplexia 2 ⚠
- p.Gly447Arg Multiple submitters Inborn genetic diseases
- p.Ile13Val Multiple submitters hyperekplexia 2 ⚠
- p.Leu12Val Multiple submitters hyperekplexia 2 ⚠
- p.Leu223Ser Multiple submitters Inborn genetic diseases ⚠
- p.Leu283Pro Multiple submitters Inborn genetic diseases ⚠
- p.Leu448Phe Multiple submitters Inborn genetic diseases ⚠
- p.Met175Leu Multiple submitters Inborn genetic diseases
- p.Phe166Leu Multiple submitters hyperekplexia 2 ⚠
- p.Phe231Ser Multiple submitters hyperekplexia 2 ⚠
- p.Phe3Val Multiple submitters Inborn genetic diseases ⚠
- p.Ser305Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser41Pro Multiple submitters hyperekplexia 2
- p.Trp139Arg Multiple submitters Inborn genetic diseases ⚠
- p.Tyr476Ter Multiple submitters hyperekplexia 2
- p.Val103Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val171Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val17Leu Multiple submitters hyperekplexia 2 ⚠
- p.Val352Met Multiple submitters Inborn genetic diseases ⚠
- c.1197+3A>G Single submitter hyperekplexia 2
- c.1197+4A>T Single submitter hyperekplexia 2
- c.1197+5G>T Single submitter hyperekplexia 2
- c.1198-14A>G Single submitter hyperekplexia 2
- c.1198-1G>A Single submitter hyperekplexia 2
- c.122+3A>G Single submitter hyperekplexia 2
- c.610+4C>T Single submitter hyperekplexia 2
- c.611-15T>A Single submitter hyperekplexia 2
- c.751+5G>A Single submitter hyperekplexia 2
- c.904+3A>G Single submitter hyperekplexia 2
- c.904+5G>T Single submitter hyperekplexia 2
- c.905-3T>C Single submitter hyperekplexia 2
- c.-182C>T Single submitter hyperekplexia 2
- c.-89C>T Single submitter hyperekplexia 2
- c.*1013A>T Single submitter hyperekplexia 2
- c.*1243A>G Single submitter hyperekplexia 2
- c.*162A>G Single submitter hyperekplexia 2
- c.*202T>C Single submitter hyperekplexia 2
- c.*437A>G Single submitter hyperekplexia 2
- c.*454A>G Single submitter hyperekplexia 2
- c.*516G>A Single submitter hyperekplexia 2
- c.*594A>T Single submitter hyperekplexia 2
- c.*694T>C Single submitter hyperekplexia 2
- c.*750G>A Single submitter hyperekplexia 2
- c.*782T>C Single submitter hyperekplexia 2
- c.*787C>T Single submitter hyperekplexia 2
- p.Ala146Thr Single submitter hyperekplexia 2 ⚠
- p.Ala151Thr Single submitter hyperekplexia 2 ⚠
- p.Ala20Val Single submitter hyperekplexia 2 ⚠
- p.Ala294Val Single submitter hyperekplexia 2 ⚠
- p.Ala335Val Single submitter hyperekplexia 2 ⚠
- p.Ala365Val Single submitter Inborn genetic diseases ⚠
- p.Ala373Pro Single submitter hyperekplexia 2 ⚠
- p.Ala381Asp Single submitter Inborn genetic diseases ⚠
- p.Ala453Pro Single submitter Inborn genetic diseases ⚠
- p.Ala469Thr Single submitter hyperekplexia 2 ⚠
- p.Ala8Pro Single submitter hyperekplexia 2 ⚠
- p.Arg108Thr Single submitter hyperekplexia 2 ⚠
- p.Arg167His Single submitter hyperekplexia 2 ⚠
- p.Arg167Leu Single submitter hyperekplexia 2 ⚠
- p.Arg176Thr Single submitter ⚠
- p.Arg196Cys Single submitter hyperekplexia 2 ⚠
- p.Arg196His Single submitter hyperekplexia 2 ⚠
- p.Arg359Lys Single submitter Inborn genetic diseases ⚠
- p.Arg478Gly Single submitter Inborn genetic diseases ⚠
- p.Arg478Lys Single submitter Inborn genetic diseases ⚠
- p.Arg50Gln Single submitter hyperekplexia 2 ⚠
- p.Arg50Leu Single submitter hyperekplexia 2 ⚠
- p.Arg62_Val65del Single submitter hyperekplexia 2
- p.Arg72Lys Single submitter hyperekplexia 2 ⚠
- p.Asn112Ile Single submitter hyperekplexia 2 ⚠
- p.Asn152Ser Single submitter hyperekplexia 2 ⚠
- p.Asn291Lys Single submitter hyperekplexia 2 ⚠
- p.Asn446Lys Single submitter Inborn genetic diseases ⚠
- p.Asn456del Single submitter hyperekplexia 2
- p.Asn489Asp Single submitter Inborn genetic diseases ⚠
- p.Asn54His Single submitter Inborn genetic diseases
- p.Asp193Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp219Asn Single submitter hyperekplexia 2 ⚠
- p.Asp232Gly Single submitter hyperekplexia 2 ⚠
- p.Asp330Glu Single submitter Inborn genetic diseases ⚠
- p.Asp419Val Single submitter Inborn genetic diseases ⚠
- p.Asp429Gly Single submitter hyperekplexia 2 ⚠
- p.Asp429His Single submitter hyperekplexia 2 ⚠
- p.Asp81Gly Single submitter hyperekplexia 2
- p.Asp81Val Single submitter hyperekplexia 2
- p.Cys137Arg Single submitter hyperekplexia 2 ⚠
- p.Cys255Trp Single submitter ⚠
- p.Gln109Lys Single submitter hyperekplexia 2 ⚠
- p.Gln351Arg Single submitter Inborn genetic diseases ⚠
- p.Gln43Glu Single submitter hyperekplexia 2 ⚠
- p.Gln95Arg Single submitter hyperekplexia 2 ⚠
- p.Glu361Lys Single submitter hyperekplexia 2 ⚠
- p.Glu371Gly Single submitter Inborn genetic diseases ⚠
- p.Glu371Lys Single submitter hyperekplexia 2 ⚠
- p.Gly218Glu Single submitter hyperekplexia 2 ⚠
- p.Gly218Val Single submitter Inborn genetic diseases ⚠
- p.Gly241Ser Single submitter ⚠
- p.Gly249Arg Single submitter Inborn genetic diseases ⚠
- p.Gly249Ser Single submitter hyperekplexia 2
- p.Gly267delinsMetMetGlyVal Single submitter hyperekplexia 2
- p.Gly302Ser Single submitter hyperekplexia 2 ⚠
- p.Gly377Arg Single submitter Inborn genetic diseases ⚠
- p.Gly377Cys Single submitter hyperekplexia 2 ⚠
- p.Gly424Val Single submitter hyperekplexia 2 ⚠
- p.Gly77Arg Single submitter hyperekplexia 2 ⚠
- p.Gly92Arg Single submitter Inborn genetic diseases ⚠
- p.Ile161Asn Single submitter hyperekplexia 2 ⚠
- p.Ile161Phe Single submitter hyperekplexia 2 ⚠
- p.Ile226Val Single submitter Inborn genetic diseases ⚠
- p.Ile233Thr Single submitter hyperekplexia 2 ⚠
- p.Ile233Val Single submitter hyperekplexia 2 ⚠
- p.Ile238Ser Single submitter Inborn genetic diseases ⚠
- p.Ile238Thr Single submitter hyperekplexia 2
- p.Ile334Met Single submitter hyperekplexia 2 ⚠
- p.Ile442Val Single submitter hyperekplexia 2 ⚠
- p.Ile473Val Single submitter hyperekplexia 2 ⚠
- p.Ile71Arg Single submitter hyperekplexia 2 ⚠
- p.Ile94Ser Single submitter hyperekplexia 2
- p.Leu10Ser Single submitter hyperekplexia 2 ⚠
- p.Leu181Val Single submitter hyperekplexia 2 ⚠
- p.Leu187Ser Single submitter Inborn genetic diseases ⚠
- p.Leu189Phe Single submitter hyperekplexia 2 ⚠
- p.Leu262Val Single submitter hyperekplexia 2 ⚠
- p.Leu307Ile Single submitter Hypotonia ⚠
- p.Leu398Phe Single submitter hyperekplexia 2
- p.Leu432Ile Single submitter hyperekplexia 2
- p.Leu475Pro Single submitter hyperekplexia 2 ⚠
- p.Leu486Val Single submitter hyperekplexia 2 ⚠
- p.Leu48Phe Single submitter ⚠
- p.Lys225Asn Single submitter Inborn genetic diseases ⚠
- p.Lys234Arg Single submitter hyperekplexia 2 ⚠
- p.Lys33Glu Single submitter hyperekplexia 2 ⚠
- p.Lys364Asn Single submitter Inborn genetic diseases ⚠
- p.Lys440Gln Single submitter hyperekplexia 2
- p.Lys457Asn Single submitter hyperekplexia 2 ⚠
- p.Lys76= Single submitter hyperekplexia 2
- p.Lys76Gln Single submitter hyperekplexia 2 ⚠
- p.Met192Thr Single submitter Inborn genetic diseases ⚠
- p.Met199Arg Single submitter hyperekplexia 2 ⚠
- p.Met1Leu Single submitter hyperekplexia 2
- p.Phe339Leu Single submitter hyperekplexia 2 ⚠
- p.Phe3Tyr Single submitter hyperekplexia 2 ⚠
- p.Phe483fs Single submitter hyperekplexia 2
- p.Phe485fs Single submitter hyperekplexia 2
- p.Phe91Ser Single submitter hyperekplexia 2 ⚠
- p.Pro184Leu Single submitter hyperekplexia 2 ⚠
- p.Pro321Ser Single submitter hyperekplexia 2 ⚠
- p.Pro357_Val360delinsLeu Single submitter hyperekplexia 2
- p.Pro459Ala Single submitter hyperekplexia 2 ⚠
- p.Pro460Ser Single submitter hyperekplexia 2 ⚠
- p.Pro461del Single submitter hyperekplexia 2
- p.Pro461Thr Single submitter hyperekplexia 2 ⚠
- p.Pro464Thr Single submitter hyperekplexia 2 ⚠
- p.Pro467Ser Single submitter hyperekplexia 2 ⚠
- p.Ser150Gly Single submitter hyperekplexia 2 ⚠
- p.Ser150Ile Single submitter Inborn genetic diseases ⚠
- p.Ser178Cys Single submitter Inborn genetic diseases ⚠
- p.Ser182Pro Single submitter hyperekplexia 2 ⚠
- p.Ser311Pro Single submitter hyperekplexia 2 ⚠
- p.Ser343Phe Single submitter hyperekplexia 2 ⚠
- p.Ser417Phe Single submitter Inborn genetic diseases ⚠
- p.Ser425Asn Single submitter hyperekplexia 2 ⚠
- p.Ser93Phe Single submitter Inborn genetic diseases ⚠
- p.Ser93Tyr Single submitter Inborn genetic diseases ⚠
- p.Thr180Ala Single submitter hyperekplexia 2 ⚠
- p.Thr207Ala Single submitter hyperekplexia 2 ⚠
- p.Thr207Ile Single submitter hyperekplexia 2 ⚠
- p.Thr250= Single submitter hyperekplexia 2
- p.Thr250Arg Single submitter hyperekplexia 2 ⚠
- p.Thr250Met Single submitter ⚠
- p.Thr261Ile Single submitter hyperekplexia 2 ⚠
- p.Thr277Ala Single submitter Inborn genetic diseases ⚠
- p.Thr391Ile Single submitter hyperekplexia 2
- p.Thr97Ile Single submitter hyperekplexia 2 ⚠
- p.Trp111Arg Single submitter hyperekplexia 2 ⚠
- p.Trp285Gly Single submitter hyperekplexia 2 ⚠
- p.Trp493Cys Single submitter hyperekplexia 2 ⚠
- p.Trp493Ser Single submitter hyperekplexia 2 ⚠
- p.Trp493Ter Single submitter
- p.Tyr101Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr101His Single submitter Inborn genetic diseases ⚠
- p.Tyr135Cys Single submitter Inborn genetic diseases
- p.Tyr240Cys Single submitter hyperekplexia 2 ⚠
- p.Tyr240His Single submitter hyperekplexia 2
- p.Tyr325Cys Single submitter hyperekplexia 2 ⚠
- p.Tyr347Asp Single submitter hyperekplexia 2 ⚠
- p.Val17Met Single submitter hyperekplexia 2 ⚠
- p.Val256Met Single submitter hyperekplexia 2 ⚠
- p.Val282del Single submitter hyperekplexia 2
- p.Val282Ile Single submitter hyperekplexia 2 ⚠
- p.Val282Phe Single submitter hyperekplexia 2 ⚠
- p.Val393Leu Single submitter hyperekplexia 2 ⚠
- p.Val490del Single submitter hyperekplexia 2
- p.Val84Ile Single submitter hyperekplexia 2 ⚠