GLRA1 — 556 ClinVar variants

All ClinVar germline GLRA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 227 flagged for review →

41 Pathogenic · 10 Pathogenic/Likely pathogenic · 28 Likely pathogenic · 27 Conflicting · 25 Benign · 14 Benign/Likely benign · 165 Likely benign · 246 Uncertain significance

Full GLRA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 227

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 15

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

GLRA1 p.Ala32Thr Conflicting Single submitter
hyperekplexia 1
GLRA1 p.Arg150Gln Conflicting Single submitter
hereditary hyperekplexia
GLRA1 p.Arg30His Conflicting Single submitter
hereditary hyperekplexia
GLRA1 p.Asn389Thr Conflicting Single submitter
hyperekplexia 1
GLRA1 p.Asn392Asp Conflicting Single submitter
hereditary hyperekplexia
GLRA1 p.Gln95Pro Conflicting Single submitter
hereditary hyperekplexia
GLRA1 p.Glu131Lys Conflicting Single submitter
hereditary hyperekplexia
GLRA1 p.Gly282Asp Conflicting Single submitter
hyperekplexia 1
GLRA1 p.His447Asn Conflicting Single submitter
Seizure
GLRA1 p.Met175Val Conflicting Single submitter
hereditary hyperekplexia
GLRA1 p.Met432Ile Conflicting Single submitter
hereditary hyperekplexia
GLRA1 p.Phe17Ser Conflicting Single submitter
Inborn genetic diseases
GLRA1 p.Thr290Ile Conflicting Single submitter
hereditary hyperekplexia
GLRA1 p.Val67Met Conflicting Single submitter
hereditary hyperekplexia
GLRA1 p.Val288Met Conflicting No assertion criteria
GLRA1-related disorder

Predictors lean, ClinVar uncertain 166

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 166

GLRA1 p.Ala240Val Uncertain significance Multiple submitters
hereditary hyperekplexia
GLRA1 p.Arg150Trp Uncertain significance Multiple submitters
hereditary hyperekplexia
GLRA1 p.Arg337Gln Uncertain significance Multiple submitters
hereditary hyperekplexia
GLRA1 p.Arg349Trp Uncertain significance Multiple submitters
hereditary hyperekplexia
GLRA1 p.Arg361His Uncertain significance Multiple submitters
hereditary hyperekplexia
GLRA1 p.Arg55Ser Uncertain significance Multiple submitters
hereditary hyperekplexia
GLRA1 p.Asn386Lys Uncertain significance Multiple submitters
hereditary hyperekplexia
GLRA1 p.Asn392Tyr Uncertain significance Multiple submitters
hereditary hyperekplexia
GLRA1 p.Asn5Lys Uncertain significance Multiple submitters
hereditary hyperekplexia
GLRA1 p.Asp193Val Uncertain significance Multiple submitters
hereditary hyperekplexia
GLRA1 p.Asp355Gly Uncertain significance Multiple submitters
Inborn genetic diseases
GLRA1 p.Cys318Phe Uncertain significance Multiple submitters
hereditary hyperekplexia
GLRA1 p.Gly358Arg Uncertain significance Multiple submitters
hereditary hyperekplexia
GLRA1 p.Ile15Thr Uncertain significance Multiple submitters
hereditary hyperekplexia
GLRA1 p.Ile181Asn Uncertain significance Multiple submitters
Inborn genetic diseases
GLRA1 p.Ile181Met Uncertain significance Multiple submitters
hereditary hyperekplexia
GLRA1 p.Leu265Phe Uncertain significance Multiple submitters
hereditary hyperekplexia
GLRA1 p.Leu343Pro Uncertain significance Multiple submitters
hereditary hyperekplexia
GLRA1 p.Lys353Arg Uncertain significance Multiple submitters
hereditary hyperekplexia
GLRA1 p.Met175Ile Uncertain significance Multiple submitters
hereditary hyperekplexia
GLRA1 p.Met175Thr Uncertain significance Multiple submitters
hereditary hyperekplexia
GLRA1 p.Met291Ile Uncertain significance Multiple submitters
GLRA1 p.Met425Val Uncertain significance Multiple submitters
hereditary hyperekplexia
GLRA1 p.Met432Thr Uncertain significance Multiple submitters
hereditary hyperekplexia
GLRA1 p.Phe17Leu Uncertain significance Multiple submitters
hyperekplexia 1
GLRA1 p.Pro394Arg Uncertain significance Multiple submitters
hyperekplexia 1
GLRA1 p.Pro64Leu Uncertain significance Multiple submitters
hereditary hyperekplexia
GLRA1 p.Ser116Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
GLRA1 p.Ser306Tyr Uncertain significance Multiple submitters
hereditary hyperekplexia
GLRA1 p.Ser31Phe Uncertain significance Multiple submitters
Inborn genetic diseases
GLRA1 p.Ser3Gly Uncertain significance Multiple submitters
hereditary hyperekplexia
GLRA1 p.Thr211Pro Uncertain significance Multiple submitters
hereditary hyperekplexia
GLRA1 p.Val154Asp Uncertain significance Multiple submitters
hereditary hyperekplexia
GLRA1 p.Val16Ala Uncertain significance Multiple submitters
hereditary hyperekplexia
GLRA1 p.Val204Met Uncertain significance Multiple submitters
hereditary hyperekplexia
GLRA1 p.Val446Ile Uncertain significance Multiple submitters
Inborn genetic diseases
GLRA1 p.Ala129Thr Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Ala165Val Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Ala203Asp Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Ala276Asp Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Ala279Val Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Ala29Ser Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Ala357Thr Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Ala385Asp Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Ala385Val Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Ala412Thr Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Ala412Val Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Ala80Thr Uncertain significance Single submitter
Inborn genetic diseases
GLRA1 p.Arg30Ser Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Arg337Trp Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Arg349Leu Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Arg361Cys Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Arg442Cys Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Arg48Lys Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Arg55Thr Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Arg93Gln Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Asn104Asp Uncertain significance Single submitter
GLRA1 p.Asn104Ser Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Asn5Ser Uncertain significance Single submitter
hyperekplexia 1
GLRA1 p.Asn89Ile Uncertain significance Single submitter
Inborn genetic diseases
GLRA1 p.Asn89Ser Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Asp109Asn Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Asp112Ala Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Asp114Asn Uncertain significance Single submitter
Inborn genetic diseases
GLRA1 p.Asp176Glu Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Asp43Glu Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Cys237Trp Uncertain significance Single submitter
hyperekplexia 1
GLRA1 p.Gln183His Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Gln214Arg Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Gln294Arg Uncertain significance Single submitter
GLRA1 p.Gln375Leu Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Gln410Pro Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Glu13Asp Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Glu197Lys Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Glu200Asp Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Glu403Gln Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Gly282Val Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Gly297Arg Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Gly358Glu Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Gly360Ala Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Gly422Asp Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Gly51Arg Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Gly77Cys Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.His352Asp Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.His447Arg Uncertain significance Single submitter
Inborn genetic diseases
GLRA1 p.His447Gln Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Ile285Thr Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Ile311Thr Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Ile313Val Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Ile380Met Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Ile421Val Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Ile79Thr Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Leu113Val Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Leu11Ile Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Leu244Pro Uncertain significance Single submitter
GLRA1 p.Leu260Met Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Leu283Pro Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Leu302Pro Uncertain significance Single submitter
GLRA1 p.Leu327Phe Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Leu342Pro Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Lys123Asn Uncertain significance Single submitter
Inborn genetic diseases
GLRA1 p.Lys34Arg Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Lys353Asn Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Lys413Asn Uncertain significance Single submitter
Inborn genetic diseases
GLRA1 p.Lys413Glu Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Lys414Gln Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Lys414Met Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Met168Val Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Met191Thr Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Met291Thr Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Met36Val Uncertain significance Single submitter
hyperekplexia 1
GLRA1 p.Met404Leu Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Met425Thr Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Met46Lys Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Met84Leu Uncertain significance Single submitter
Inborn genetic diseases
GLRA1 p.Phe173Leu Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Phe334Ser Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Phe4Val Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Pro167Leu Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Pro174Ser Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Pro258Ser Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Pro258Thr Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Pro35Ala Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Pro35Leu Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Pro394Ser Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Pro58Ser Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Pro99Arg Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Ser110Ala Uncertain significance Single submitter
Inborn genetic diseases
GLRA1 p.Ser110Cys Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Ser116Pro Uncertain significance Single submitter
hyperekplexia 1
GLRA1 p.Ser157Gly Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Ser186Ile Uncertain significance Single submitter
hyperekplexia 1
GLRA1 p.Ser23Phe Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Ser269Pro Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Ser365Ala Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Ser381Leu Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Ser388Thr Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Ser398Cys Uncertain significance Single submitter
Inborn genetic diseases
GLRA1 p.Ser398Pro Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Ser39Leu Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Ser75Gly Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Ser75Ile Uncertain significance Single submitter
Inborn genetic diseases
GLRA1 p.Thr14Ala Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Thr14Ile Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Thr190Arg Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Thr287Ile Uncertain significance Single submitter
GLRA1 p.Thr49Ile Uncertain significance Single submitter
Inborn genetic diseases
GLRA1 p.Trp12Cys Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Trp12Ser Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Trp314Cys Uncertain significance Single submitter
hereditary hyperekplexia

Predictors split 46

The independent predictors disagree with each other — read with care.

GLRA1 p.Arg347Thr Uncertain significance Multiple submitters
Inborn genetic diseases
GLRA1 p.Arg442His Uncertain significance Multiple submitters
hereditary hyperekplexia
GLRA1 p.Asp208Asn Uncertain significance Multiple submitters
hereditary hyperekplexia
GLRA1 p.Glu219Gly Uncertain significance Multiple submitters
hereditary hyperekplexia
GLRA1 p.Glu444Gly Uncertain significance Multiple submitters
hereditary hyperekplexia
GLRA1 p.Gly202Glu Uncertain significance Multiple submitters
hereditary hyperekplexia
GLRA1 p.Ile409Asn Uncertain significance Multiple submitters
hereditary hyperekplexia
GLRA1 p.Pro38Thr Uncertain significance Multiple submitters
hereditary hyperekplexia
GLRA1 p.Thr179Lys Uncertain significance Multiple submitters
GLRA1-related disorder
GLRA1 p.Ala300Glu Conflicting Single submitter
hyperekplexia 1
GLRA1 p.Ala366Asp Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Ala372Asp Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Arg344Gln Conflicting Single submitter
hereditary hyperekplexia
GLRA1 p.Arg405Leu Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Asn431Ser Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Asp114Glu Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Asp222Asn Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Asp378Tyr Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Asp416Glu Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Asp445Tyr Uncertain significance Single submitter
hyperekplexia 1
GLRA1 p.Glu402Gly Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Gly202Arg Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Gly297Ser Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Gly379Asp Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Gly422Ser Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Gly47Arg Conflicting Single submitter
hereditary hyperekplexia
GLRA1 p.His135Gln Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.His339Arg Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Ile158Thr Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Ile257Thr Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Ile257Val Uncertain significance Single submitter
Inborn genetic diseases
GLRA1 p.Ile421Thr Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Ile429Thr Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Ile440Thr Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Leu146Ile Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Leu184Val Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Lys304Gln Pathogenic Single submitter
hereditary hyperekplexia
GLRA1 p.Lys406Asn Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Lys439Arg Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Lys439Gln Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Met315Leu Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Phe345Leu Uncertain significance Single submitter
Inborn genetic diseases
GLRA1 p.Thr179Ile Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Trp267Cys Likely pathogenic Single submitter
hereditary hyperekplexia
GLRA1 p.Trp96Arg Uncertain significance Single submitter
hereditary hyperekplexia
GLRA1 p.Val177Phe Uncertain significance Single submitter
Inborn genetic diseases

All GLRA1 variants

Pathogenic 41

p.Arg299Gln Multiple submitters hereditary hyperekplexia
p.Ser324Ter Multiple submitters hereditary hyperekplexia
p.Tyr225Ter Multiple submitters hyperekplexia 1
p.Tyr230Ter Multiple submitters GLRA1-related disorders
p.Tyr307Cys Multiple submitters hereditary hyperekplexia
c.252+2T>C Single submitter hyperekplexia 1
c.477-1G>A Single submitter hyperekplexia 1
p.Ala331fs Single submitter hereditary hyperekplexia
p.Arg100Cys Single submitter hereditary hyperekplexia
p.Arg246Gln Single submitter hereditary hyperekplexia
p.Arg299Pro Single submitter
p.Arg299Ter Single submitter hereditary hyperekplexia
p.Arg93Leu Single submitter hereditary hyperekplexia
p.Asp98Asn Single submitter hereditary hyperekplexia
p.Cys180fs Single submitter hereditary hyperekplexia
p.Cys237fs Single submitter hereditary hyperekplexia
p.Gln205Ter Single submitter hereditary hyperekplexia
p.Ile139fs Single submitter hereditary hyperekplexia
p.Leu126fs Single submitter hereditary hyperekplexia
p.Leu212fs Single submitter hereditary hyperekplexia
p.Lys304Gln Single submitter hereditary hyperekplexia ⚠
p.Lys304Glu Single submitter hyperekplexia 1
p.Lys34fs Single submitter hereditary hyperekplexia
p.Phe127fs Single submitter hereditary hyperekplexia
p.Phe128fs Single submitter hereditary hyperekplexia
p.Phe242fs Single submitter hereditary hyperekplexia
p.Ser306_Tyr307insTer Single submitter hereditary hyperekplexia
p.Trp122Ter Single submitter hereditary hyperekplexia
p.Trp267Ter Single submitter
p.Trp314Ter Single submitter
p.Tyr106Ter Single submitter hereditary hyperekplexia
p.Tyr367Ter Single submitter hereditary hyperekplexia
p.Tyr86_Arg87delinsTer Single submitter hereditary hyperekplexia
c.(?_-287 No assertion criteria hyperekplexia 1
p.Gln294His No assertion criteria hyperekplexia 1
p.Ile272Asn No assertion criteria hyperekplexia 1
p.Pro278Thr No assertion criteria hyperekplexia 1
p.Ser259Arg No assertion criteria hyperekplexia 1
p.Ser295Asn No assertion criteria hyperekplexia 1
p.Ser298Thr No assertion criteria hyperekplexia 1
p.Tyr307Ser No assertion criteria hyperekplexia 1

Pathogenic/Likely pathogenic 10

c.1059+1G>A Multiple submitters hereditary hyperekplexia
p.Arg100fs Multiple submitters hereditary hyperekplexia
p.Arg246Trp Multiple submitters hereditary hyperekplexia
p.Arg280His Multiple submitters hereditary hyperekplexia
p.Arg299Leu Multiple submitters hereditary hyperekplexia
p.Arg420His Multiple submitters hereditary hyperekplexia
p.Arg93Trp Multiple submitters hereditary hyperekplexia
p.His135fs Multiple submitters hereditary hyperekplexia
p.Pro63fs Multiple submitters hereditary hyperekplexia
p.Thr190Met Multiple submitters hyperekplexia 1

Likely pathogenic 28

c.913-1G>A Multiple submitters hereditary hyperekplexia
c.184+1G>A Single submitter hereditary hyperekplexia
c.184+2T>C Single submitter hyperekplexia 1
c.559+1G>A Single submitter hyperekplexia 1
c.56+1G>T Single submitter hereditary hyperekplexia
c.697+1G>A Single submitter hereditary hyperekplexia
c.697+2T>A Single submitter hereditary hyperekplexia
c.698-2del Single submitter hereditary hyperekplexia
p.Ala300Pro Single submitter
p.Ala316Glu Single submitter
p.Arg100His Single submitter hereditary hyperekplexia
p.Arg100Ser Single submitter hyperekplexia 1
p.Arg420Cys Single submitter hereditary hyperekplexia
p.Asp125Asn Single submitter
p.Asp416Asn Single submitter hyperekplexia 1
p.Asp98Glu Single submitter
p.Cys166Ser Single submitter GLRA1-related disorders
p.Cys69Tyr Single submitter hyperekplexia 1
p.Gly77Arg Single submitter
p.Leu113Pro Single submitter hyperekplexia 1
p.Leu320fs Single submitter
p.Met168Arg Single submitter hyperekplexia 1
p.Phe235Leu Single submitter
p.Ser50fs Single submitter hyperekplexia 1
p.Thr287Ala Single submitter hereditary hyperekplexia
p.Trp12Ter Single submitter
p.Trp267Cys Single submitter hereditary hyperekplexia ⚠
p.Val308fs Single submitter hyperekplexia 1

Conflicting classifications of pathogenicity 27

c.477-5C>T Single submitter hereditary hyperekplexia
c.560-1G>C Single submitter hyperekplexia 1
c.697+9A>C Single submitter hyperekplexia 1
p.Ala300Glu Single submitter hyperekplexia 1 ⚠
p.Ala32Thr Single submitter hyperekplexia 1 ⚠
p.Arg150Gln Single submitter hereditary hyperekplexia ⚠
p.Arg30His Single submitter hereditary hyperekplexia ⚠
p.Arg344Gln Single submitter hereditary hyperekplexia ⚠
p.Arg344Ter Single submitter hereditary hyperekplexia
p.Arg405Ter Single submitter hereditary hyperekplexia
p.Arg8Ter Single submitter hyperekplexia 1
p.Asn387Lys Single submitter hereditary hyperekplexia
p.Asn389Thr Single submitter hyperekplexia 1 ⚠
p.Asn392Asp Single submitter hereditary hyperekplexia ⚠
p.Gln95Pro Single submitter hereditary hyperekplexia ⚠
p.Glu131Lys Single submitter hereditary hyperekplexia ⚠
p.Gly282Asp Single submitter hyperekplexia 1 ⚠
p.Gly47Arg Single submitter hereditary hyperekplexia ⚠
p.His447Asn Single submitter Seizure ⚠
p.Met175Val Single submitter hereditary hyperekplexia ⚠
p.Met432Ile Single submitter hereditary hyperekplexia ⚠
p.Phe17Ser Single submitter Inborn genetic diseases ⚠
p.Thr232= Single submitter hyperekplexia 1
p.Thr290Ile Single submitter hereditary hyperekplexia ⚠
p.Val305= Single submitter hereditary hyperekplexia
p.Val67Met Single submitter hereditary hyperekplexia ⚠
p.Val288Met No assertion criteria GLRA1-related disorder ⚠

Benign 25

c.559+8T>G Multiple submitters hereditary hyperekplexia
c.-196C>T Multiple submitters hyperekplexia 1
p.Arg241Gln Multiple submitters hyperekplexia 1
p.Phe408= Multiple submitters hereditary hyperekplexia
p.Pro394Leu Multiple submitters hereditary hyperekplexia
c.1059+114G>A Single submitter
c.185-185G>A Single submitter
c.252+198A>G Single submitter
c.252+233A>G Single submitter
c.476+161G>A Single submitter
c.476+40A>G Single submitter
c.476+56C>T Single submitter
c.477-173A>G Single submitter
c.477-270A>G Single submitter
c.477-95T>C Single submitter
c.560-136dup Single submitter
c.560-184C>T Single submitter
c.697+24C>T Single submitter
c.697+33dup Single submitter
c.697+65A>G Single submitter
c.698-295T>C Single submitter
c.912+263C>T Single submitter
c.913-262A>G Single submitter
c.913-8dup Single submitter hereditary hyperekplexia
p.Leu244= Single submitter hereditary hyperekplexia

Benign/Likely benign 14

c.57-12C>T Multiple submitters hereditary hyperekplexia
p.Ala331= Multiple submitters hereditary hyperekplexia
p.Arg241= Multiple submitters hereditary hyperekplexia
p.Arg344= Multiple submitters hyperekplexia 1
p.Arg347= Multiple submitters hereditary hyperekplexia
p.Arg349Gln Multiple submitters hereditary hyperekplexia
p.Arg405Gln Multiple submitters hereditary hyperekplexia
p.Arg8Pro Multiple submitters hyperekplexia 1
p.Asn130= Multiple submitters hereditary hyperekplexia
p.Asp108= Multiple submitters hyperekplexia 1
p.Gly370Ser Multiple submitters hereditary hyperekplexia
p.His447= Multiple submitters hereditary hyperekplexia
p.Pro174= Multiple submitters hereditary hyperekplexia
p.Ser39= Multiple submitters hereditary hyperekplexia

Likely benign 165

c.1059+252C>T Multiple submitters
c.185-9G>A Multiple submitters hereditary hyperekplexia
c.477-13C>T Multiple submitters hereditary hyperekplexia
c.698-9T>C Multiple submitters hereditary hyperekplexia
c.913-14C>A Multiple submitters hereditary hyperekplexia
c.-164C>T Multiple submitters hyperekplexia 1
p.Asn66= Multiple submitters hereditary hyperekplexia
p.Ile195= Multiple submitters hereditary hyperekplexia
c.1059+12G>T Single submitter hereditary hyperekplexia
c.1059+14T>C Single submitter hereditary hyperekplexia
c.1059+15_1059+18dup Single submitter hereditary hyperekplexia
c.1059+18T>G Single submitter hereditary hyperekplexia
c.1059+19G>A Single submitter hereditary hyperekplexia
c.1059+7C>A Single submitter hereditary hyperekplexia
c.1059+8T>G Single submitter hereditary hyperekplexia
c.1060-10T>A Single submitter hereditary hyperekplexia
c.1060-20C>T Single submitter hereditary hyperekplexia
c.1060-40G>A Single submitter
c.1060-4C>A Single submitter hereditary hyperekplexia
c.1060-7A>C Single submitter hereditary hyperekplexia
c.184+11T>G Single submitter hereditary hyperekplexia
c.184+12A>T Single submitter hereditary hyperekplexia
c.184+14T>G Single submitter hereditary hyperekplexia
c.184+19C>A Single submitter hereditary hyperekplexia
c.184+9A>G Single submitter hereditary hyperekplexia
c.185-15T>C Single submitter hereditary hyperekplexia
c.185-7T>C Single submitter hereditary hyperekplexia
c.185-96C>T Single submitter
c.252+125_252+138del Single submitter
c.252+17A>G Single submitter hereditary hyperekplexia
c.252+19A>G Single submitter hereditary hyperekplexia
c.253-18_253-16del Single submitter hereditary hyperekplexia
c.253-6C>T Single submitter hereditary hyperekplexia
c.253-7G>A Single submitter hereditary hyperekplexia
c.253-8G>C Single submitter hereditary hyperekplexia
c.253-9T>C Single submitter hereditary hyperekplexia
c.476+10G>C Single submitter hereditary hyperekplexia
c.476+20A>G Single submitter hereditary hyperekplexia
c.476+8C>T Single submitter hereditary hyperekplexia
c.477-14C>T Single submitter hereditary hyperekplexia
c.477-15C>T Single submitter hereditary hyperekplexia
c.559+11T>C Single submitter hereditary hyperekplexia
c.559+12G>A Single submitter hereditary hyperekplexia
c.559+15T>A Single submitter hereditary hyperekplexia
c.559+16G>C Single submitter hereditary hyperekplexia
c.559+18G>C Single submitter hereditary hyperekplexia
c.559+19T>C Single submitter hereditary hyperekplexia
c.56+19A>C Single submitter hereditary hyperekplexia
c.560-15C>T Single submitter hereditary hyperekplexia
c.560-16T>C Single submitter hereditary hyperekplexia
c.560-4C>G Single submitter hereditary hyperekplexia
c.560-8C>T Single submitter hereditary hyperekplexia
c.560-9C>G Single submitter hereditary hyperekplexia
c.560-9C>T Single submitter hereditary hyperekplexia
c.57-14C>G Single submitter hereditary hyperekplexia
c.57-15T>C Single submitter hereditary hyperekplexia
c.57-16CT[2] Single submitter hereditary hyperekplexia
c.57-176T>C Single submitter
c.57-257G>C Single submitter
c.57-304C>T Single submitter
c.697+17C>T Single submitter hereditary hyperekplexia
c.697+310G>A Single submitter
c.697+8C>A Single submitter hereditary hyperekplexia
c.912+10A>T Single submitter hereditary hyperekplexia
c.912+11_912+12insCTC Single submitter hereditary hyperekplexia
c.912+11T>C Single submitter hereditary hyperekplexia
c.912+12T>C Single submitter hereditary hyperekplexia
c.912+18A>G Single submitter hereditary hyperekplexia
c.912+7C>T Single submitter hereditary hyperekplexia
c.912+8_912+9insTGCCGGCTCTCGAG Single submitter hereditary hyperekplexia
c.913-12C>A Single submitter hereditary hyperekplexia
c.913-16del Single submitter hereditary hyperekplexia
c.913-19T>G Single submitter hereditary hyperekplexia
c.913-5T>C Single submitter hereditary hyperekplexia
c.913-6dup Single submitter hereditary hyperekplexia
c.913-8C>A Single submitter hereditary hyperekplexia
c.913-8C>T Single submitter hereditary hyperekplexia
p.Ala102= Single submitter hereditary hyperekplexia
p.Ala203= Single submitter hereditary hyperekplexia
p.Ala207= Single submitter hereditary hyperekplexia
p.Ala240= Single submitter hereditary hyperekplexia
p.Ala330= Single submitter hereditary hyperekplexia
p.Ala385Thr Single submitter hereditary hyperekplexia
p.Ala54= Single submitter hereditary hyperekplexia
p.Arg100= Single submitter hereditary hyperekplexia
p.Arg349= Single submitter hereditary hyperekplexia
p.Arg442= Single submitter hereditary hyperekplexia
p.Arg93= Single submitter hereditary hyperekplexia
p.Asn104= Single submitter
p.Asn143= Single submitter hereditary hyperekplexia
p.Asn153= Single submitter hereditary hyperekplexia
p.Asn273= Single submitter
p.Asn392= Single submitter hereditary hyperekplexia
p.Asn431= Single submitter hereditary hyperekplexia
p.Asn97= Single submitter hereditary hyperekplexia
p.Asp208= Single submitter hereditary hyperekplexia
p.Asp222= Single submitter hereditary hyperekplexia
p.Asp312= Single submitter hereditary hyperekplexia
p.Asp378= Single submitter hereditary hyperekplexia
p.Asp445= Single submitter hereditary hyperekplexia
p.Glu13= Single submitter hereditary hyperekplexia
p.Glu219= Single submitter hereditary hyperekplexia
p.Glu341= Single submitter hereditary hyperekplexia
p.Glu341Gly Single submitter hereditary hyperekplexia
p.Gly188= Single submitter hereditary hyperekplexia
p.Gly209= Single submitter hereditary hyperekplexia
p.Gly233= Single submitter hereditary hyperekplexia
p.Gly249= Single submitter hereditary hyperekplexia
p.Gly358= Single submitter hereditary hyperekplexia
p.Gly360= Single submitter hereditary hyperekplexia
p.Gly370= Single submitter hereditary hyperekplexia
p.Gly384= Single submitter hereditary hyperekplexia
p.His137= Single submitter hereditary hyperekplexia
p.Ile15= Single submitter hereditary hyperekplexia
p.Ile160= Single submitter hereditary hyperekplexia
p.Ile262= Single submitter hereditary hyperekplexia
p.Ile415= Single submitter hereditary hyperekplexia
p.Leu11= Single submitter hereditary hyperekplexia
p.Leu126= Single submitter hereditary hyperekplexia
p.Leu145= Single submitter hereditary hyperekplexia
p.Leu164= Single submitter hereditary hyperekplexia
p.Leu212= Single submitter hereditary hyperekplexia
p.Leu252= Single submitter
p.Leu327= Single submitter hereditary hyperekplexia
p.Leu42= Single submitter hereditary hyperekplexia
p.Leu428= Single submitter hereditary hyperekplexia
p.Leu92= Single submitter hereditary hyperekplexia
p.Lys383= Single submitter hereditary hyperekplexia
p.Lys413= Single submitter hereditary hyperekplexia
p.Phe17= Single submitter hereditary hyperekplexia
p.Phe18= Single submitter hereditary hyperekplexia
p.Pro258= Single submitter hereditary hyperekplexia
p.Pro33= Single submitter hereditary hyperekplexia
p.Pro393= Single submitter hereditary hyperekplexia
p.Pro395= Single submitter hereditary hyperekplexia
p.Pro99= Single submitter hereditary hyperekplexia
p.Ser120= Single submitter hereditary hyperekplexia
p.Ser157= Single submitter hereditary hyperekplexia
p.Ser266= Single submitter hereditary hyperekplexia
p.Ser269= Single submitter hereditary hyperekplexia
p.Ser296= Single submitter hereditary hyperekplexia
p.Ser31= Single submitter hereditary hyperekplexia
p.Ser324= Single submitter hereditary hyperekplexia
p.Ser50= Single submitter hereditary hyperekplexia
p.Ser68= Single submitter hereditary hyperekplexia
p.Thr14= Single submitter hereditary hyperekplexia
p.Thr141= Single submitter hereditary hyperekplexia
p.Thr161= Single submitter hereditary hyperekplexia
p.Thr179= Single submitter hereditary hyperekplexia
p.Thr190= Single submitter hereditary hyperekplexia
p.Thr227= Single submitter hereditary hyperekplexia
p.Thr286= Single submitter hereditary hyperekplexia
p.Thr292= Single submitter hereditary hyperekplexia
p.Thr293= Single submitter hereditary hyperekplexia
p.Thr49= Single submitter hereditary hyperekplexia
p.Thr6= Single submitter hereditary hyperekplexia
p.Tyr10= Single submitter hereditary hyperekplexia
p.Tyr156= Single submitter hereditary hyperekplexia
p.Tyr230= Single submitter hereditary hyperekplexia
p.Tyr251= Single submitter hereditary hyperekplexia
p.Tyr329= Single submitter
p.Tyr367= Single submitter hereditary hyperekplexia
p.Val281= Single submitter hereditary hyperekplexia
p.Val317= Single submitter hereditary hyperekplexia
p.Val332= Single submitter hereditary hyperekplexia

Uncertain significance 246

c.476+5G>T Multiple submitters hereditary hyperekplexia
p.Ala240Val Multiple submitters hereditary hyperekplexia ⚠
p.Arg150Trp Multiple submitters hereditary hyperekplexia ⚠
p.Arg337Gln Multiple submitters hereditary hyperekplexia ⚠
p.Arg347Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg349Trp Multiple submitters hereditary hyperekplexia ⚠
p.Arg361His Multiple submitters hereditary hyperekplexia ⚠
p.Arg442His Multiple submitters hereditary hyperekplexia ⚠
p.Arg55Ser Multiple submitters hereditary hyperekplexia ⚠
p.Asn386Lys Multiple submitters hereditary hyperekplexia ⚠
p.Asn392Tyr Multiple submitters hereditary hyperekplexia ⚠
p.Asn5Lys Multiple submitters hereditary hyperekplexia ⚠
p.Asp193Val Multiple submitters hereditary hyperekplexia ⚠
p.Asp208Asn Multiple submitters hereditary hyperekplexia ⚠
p.Asp355Gly Multiple submitters Inborn genetic diseases ⚠
p.Cys318Phe Multiple submitters hereditary hyperekplexia ⚠
p.Glu219Gly Multiple submitters hereditary hyperekplexia ⚠
p.Glu403del Multiple submitters hereditary hyperekplexia
p.Glu444Gly Multiple submitters hereditary hyperekplexia ⚠
p.Gly202Glu Multiple submitters hereditary hyperekplexia ⚠
p.Gly358Arg Multiple submitters hereditary hyperekplexia ⚠
p.Ile15Thr Multiple submitters hereditary hyperekplexia ⚠
p.Ile181Asn Multiple submitters Inborn genetic diseases ⚠
p.Ile181Met Multiple submitters hereditary hyperekplexia ⚠
p.Ile285_Thr290del Multiple submitters hereditary hyperekplexia
p.Ile409Asn Multiple submitters hereditary hyperekplexia ⚠
p.Ile418Thr Multiple submitters Inborn genetic diseases
p.Leu265Phe Multiple submitters hereditary hyperekplexia ⚠
p.Leu343Pro Multiple submitters hereditary hyperekplexia ⚠
p.Lys353Arg Multiple submitters hereditary hyperekplexia ⚠
p.Met175Ile Multiple submitters hereditary hyperekplexia ⚠
p.Met175Thr Multiple submitters hereditary hyperekplexia ⚠
p.Met291Ile Multiple submitters ⚠
p.Met425Val Multiple submitters hereditary hyperekplexia ⚠
p.Met432Thr Multiple submitters hereditary hyperekplexia ⚠
p.Phe17Leu Multiple submitters hyperekplexia 1 ⚠
p.Pro38Thr Multiple submitters hereditary hyperekplexia ⚠
p.Pro394Arg Multiple submitters hyperekplexia 1 ⚠
p.Pro64Leu Multiple submitters hereditary hyperekplexia ⚠
p.Ser116Thr Multiple submitters hereditary hyperekplexia
p.Ser116Tyr Multiple submitters Inborn genetic diseases ⚠
p.Ser306Tyr Multiple submitters hereditary hyperekplexia ⚠
p.Ser31Phe Multiple submitters Inborn genetic diseases ⚠
p.Ser3Gly Multiple submitters hereditary hyperekplexia ⚠
p.Ser400Phe Multiple submitters hereditary hyperekplexia
p.Thr179Lys Multiple submitters GLRA1-related disorder ⚠
p.Thr211Pro Multiple submitters hereditary hyperekplexia ⚠
p.Val154Asp Multiple submitters hereditary hyperekplexia ⚠
p.Val16Ala Multiple submitters hereditary hyperekplexia ⚠
p.Val204Met Multiple submitters hereditary hyperekplexia ⚠
p.Val446Ile Multiple submitters Inborn genetic diseases ⚠
c.184+4G>A Single submitter hereditary hyperekplexia
c.184+6G>A Single submitter hereditary hyperekplexia
c.184+6G>C Single submitter hereditary hyperekplexia
c.185-3C>T Single submitter hyperekplexia 1
c.252+3G>A Single submitter hereditary hyperekplexia
c.253-14T>C Single submitter hyperekplexia 1
c.476+6T>A Single submitter hereditary hyperekplexia
c.559+5G>A Single submitter hereditary hyperekplexia
c.559+6T>A Single submitter hereditary hyperekplexia
c.56+5G>A Single submitter hereditary hyperekplexia
c.-130G>A Single submitter hyperekplexia 1
c.-271G>C Single submitter hyperekplexia 1
c.-80G>A Single submitter hyperekplexia 1
c.-81C>G Single submitter hyperekplexia 1
p.Ala129Thr Single submitter hereditary hyperekplexia ⚠
p.Ala165Val Single submitter hereditary hyperekplexia ⚠
p.Ala203Asp Single submitter hereditary hyperekplexia ⚠
p.Ala22_Ala26del Single submitter hereditary hyperekplexia
p.Ala276Asp Single submitter hereditary hyperekplexia ⚠
p.Ala279Val Single submitter hereditary hyperekplexia ⚠
p.Ala29Ser Single submitter hereditary hyperekplexia ⚠
p.Ala357Thr Single submitter hereditary hyperekplexia ⚠
p.Ala366Asp Single submitter hereditary hyperekplexia ⚠
p.Ala372Asp Single submitter hereditary hyperekplexia ⚠
p.Ala385Asp Single submitter hereditary hyperekplexia ⚠
p.Ala385Val Single submitter hereditary hyperekplexia ⚠
p.Ala412Thr Single submitter hereditary hyperekplexia ⚠
p.Ala412Val Single submitter hereditary hyperekplexia ⚠
p.Ala80Thr Single submitter Inborn genetic diseases ⚠
p.Arg150Pro Single submitter hereditary hyperekplexia
p.Arg241Trp Single submitter hereditary hyperekplexia
p.Arg30Ser Single submitter hereditary hyperekplexia ⚠
p.Arg337Trp Single submitter hereditary hyperekplexia ⚠
p.Arg349Leu Single submitter hereditary hyperekplexia ⚠
p.Arg361Cys Single submitter hereditary hyperekplexia ⚠
p.Arg405Leu Single submitter hereditary hyperekplexia ⚠
p.Arg442Cys Single submitter hereditary hyperekplexia ⚠
p.Arg48Lys Single submitter hereditary hyperekplexia ⚠
p.Arg55Thr Single submitter hereditary hyperekplexia ⚠
p.Arg93Gln Single submitter hereditary hyperekplexia ⚠
p.Asn104Asp Single submitter ⚠
p.Asn104Ser Single submitter hereditary hyperekplexia ⚠
p.Asn387del Single submitter hereditary hyperekplexia
p.Asn431Ser Single submitter hereditary hyperekplexia ⚠
p.Asn5Ser Single submitter hyperekplexia 1 ⚠
p.Asn66Lys Single submitter hereditary hyperekplexia
p.Asn89Ile Single submitter Inborn genetic diseases ⚠
p.Asn89Ser Single submitter hereditary hyperekplexia ⚠
p.Asp109Asn Single submitter hereditary hyperekplexia ⚠
p.Asp112Ala Single submitter hereditary hyperekplexia ⚠
p.Asp114Asn Single submitter Inborn genetic diseases ⚠
p.Asp114Glu Single submitter hereditary hyperekplexia ⚠
p.Asp176Glu Single submitter hereditary hyperekplexia ⚠
p.Asp222Asn Single submitter hereditary hyperekplexia ⚠
p.Asp378Tyr Single submitter hereditary hyperekplexia ⚠
p.Asp416Glu Single submitter hereditary hyperekplexia ⚠
p.Asp43Glu Single submitter hereditary hyperekplexia ⚠
p.Asp445Tyr Single submitter hyperekplexia 1 ⚠
p.Cys237Trp Single submitter hyperekplexia 1 ⚠
p.Gln183His Single submitter hereditary hyperekplexia ⚠
p.Gln214Arg Single submitter hereditary hyperekplexia ⚠
p.Gln294Arg Single submitter ⚠
p.Gln375Leu Single submitter hereditary hyperekplexia ⚠
p.Gln410Pro Single submitter hereditary hyperekplexia ⚠
p.Glu13Asp Single submitter hereditary hyperekplexia ⚠
p.Glu197Lys Single submitter hereditary hyperekplexia ⚠
p.Glu200Asp Single submitter hereditary hyperekplexia ⚠
p.Glu402Gly Single submitter hereditary hyperekplexia ⚠
p.Glu402Lys Single submitter hereditary hyperekplexia
p.Glu403Gln Single submitter hereditary hyperekplexia ⚠
p.Gly202Arg Single submitter hereditary hyperekplexia ⚠
p.Gly282Val Single submitter hereditary hyperekplexia ⚠
p.Gly297Arg Single submitter hereditary hyperekplexia ⚠
p.Gly297Ser Single submitter hereditary hyperekplexia ⚠
p.Gly358Glu Single submitter hereditary hyperekplexia ⚠
p.Gly360Ala Single submitter hereditary hyperekplexia ⚠
p.Gly379Asp Single submitter hereditary hyperekplexia ⚠
p.Gly422Asp Single submitter hereditary hyperekplexia ⚠
p.Gly422Ser Single submitter hereditary hyperekplexia ⚠
p.Gly51Arg Single submitter hereditary hyperekplexia ⚠
p.Gly77Cys Single submitter hereditary hyperekplexia ⚠
p.His135Gln Single submitter hereditary hyperekplexia ⚠
p.His339Arg Single submitter hereditary hyperekplexia ⚠
p.His352Asp Single submitter hereditary hyperekplexia ⚠
p.His447Arg Single submitter Inborn genetic diseases ⚠
p.His447Gln Single submitter hereditary hyperekplexia ⚠
p.Ile148Val Single submitter hereditary hyperekplexia
p.Ile158Thr Single submitter hereditary hyperekplexia ⚠
p.Ile257Thr Single submitter hereditary hyperekplexia ⚠
p.Ile257Val Single submitter Inborn genetic diseases ⚠
p.Ile285Thr Single submitter hereditary hyperekplexia ⚠
p.Ile311Thr Single submitter hereditary hyperekplexia ⚠
p.Ile313Val Single submitter hereditary hyperekplexia ⚠
p.Ile380_Asn387del Single submitter hereditary hyperekplexia
p.Ile380Met Single submitter hereditary hyperekplexia ⚠
p.Ile421Thr Single submitter hereditary hyperekplexia ⚠
p.Ile421Val Single submitter hereditary hyperekplexia ⚠
p.Ile429Thr Single submitter hereditary hyperekplexia ⚠
p.Ile440Thr Single submitter hereditary hyperekplexia ⚠
p.Ile79Thr Single submitter hereditary hyperekplexia ⚠
p.Leu113Val Single submitter hereditary hyperekplexia ⚠
p.Leu11Ile Single submitter hereditary hyperekplexia ⚠
p.Leu146Ile Single submitter hereditary hyperekplexia ⚠
p.Leu184Val Single submitter hereditary hyperekplexia ⚠
p.Leu244Pro Single submitter ⚠
p.Leu260Met Single submitter hereditary hyperekplexia ⚠
p.Leu283Pro Single submitter hereditary hyperekplexia ⚠
p.Leu302Pro Single submitter ⚠
p.Leu320Ile Single submitter hereditary hyperekplexia
p.Leu327Phe Single submitter hereditary hyperekplexia ⚠
p.Leu342Pro Single submitter hereditary hyperekplexia ⚠
p.Lys123Asn Single submitter Inborn genetic diseases ⚠
p.Lys34Arg Single submitter hereditary hyperekplexia ⚠
p.Lys353Asn Single submitter hereditary hyperekplexia ⚠
p.Lys406Asn Single submitter hereditary hyperekplexia ⚠
p.Lys413Asn Single submitter Inborn genetic diseases ⚠
p.Lys413Glu Single submitter hereditary hyperekplexia ⚠
p.Lys414Gln Single submitter hereditary hyperekplexia ⚠
p.Lys414Met Single submitter hereditary hyperekplexia ⚠
p.Lys439Arg Single submitter hereditary hyperekplexia ⚠
p.Lys439Gln Single submitter hereditary hyperekplexia ⚠
p.Met168Val Single submitter hereditary hyperekplexia ⚠
p.Met191Thr Single submitter hereditary hyperekplexia ⚠
p.Met1Arg Single submitter hereditary hyperekplexia
p.Met1Ile Single submitter hereditary hyperekplexia
p.Met1Thr Single submitter hyperekplexia 1
p.Met1Val Single submitter hereditary hyperekplexia
p.Met291Thr Single submitter hereditary hyperekplexia ⚠
p.Met315Leu Single submitter hereditary hyperekplexia ⚠
p.Met36Val Single submitter hyperekplexia 1 ⚠
p.Met404Ile Single submitter hereditary hyperekplexia
p.Met404Leu Single submitter hereditary hyperekplexia ⚠
p.Met425Thr Single submitter hereditary hyperekplexia ⚠
p.Met46Lys Single submitter hereditary hyperekplexia ⚠
p.Met84Leu Single submitter Inborn genetic diseases ⚠
p.Phe173Leu Single submitter hereditary hyperekplexia ⚠
p.Phe18del Single submitter hereditary hyperekplexia
p.Phe334Ser Single submitter hereditary hyperekplexia ⚠
p.Phe345Leu Single submitter Inborn genetic diseases ⚠
p.Phe408fs Single submitter
p.Phe4Val Single submitter hereditary hyperekplexia ⚠
p.Pro167Leu Single submitter hereditary hyperekplexia ⚠
p.Pro174Ser Single submitter hereditary hyperekplexia ⚠
p.Pro258Ser Single submitter hereditary hyperekplexia ⚠
p.Pro258Thr Single submitter hereditary hyperekplexia ⚠
p.Pro35Ala Single submitter hereditary hyperekplexia ⚠
p.Pro35Leu Single submitter hereditary hyperekplexia ⚠
p.Pro394Ser Single submitter hereditary hyperekplexia ⚠
p.Pro58Ser Single submitter hereditary hyperekplexia ⚠
p.Pro99Arg Single submitter hereditary hyperekplexia ⚠
p.Pro99Ser Single submitter
p.Ser110Ala Single submitter Inborn genetic diseases ⚠
p.Ser110Cys Single submitter hereditary hyperekplexia ⚠
p.Ser116Pro Single submitter hyperekplexia 1 ⚠
p.Ser157Gly Single submitter hereditary hyperekplexia ⚠
p.Ser186Ile Single submitter hyperekplexia 1 ⚠
p.Ser19= Single submitter hereditary hyperekplexia
p.Ser23Phe Single submitter hereditary hyperekplexia ⚠
p.Ser269Pro Single submitter hereditary hyperekplexia ⚠
p.Ser365Ala Single submitter hereditary hyperekplexia ⚠
p.Ser381Leu Single submitter hereditary hyperekplexia ⚠
p.Ser388Thr Single submitter hereditary hyperekplexia ⚠
p.Ser398Cys Single submitter Inborn genetic diseases ⚠
p.Ser398Pro Single submitter hereditary hyperekplexia ⚠
p.Ser39Leu Single submitter hereditary hyperekplexia ⚠
p.Ser75Gly Single submitter hereditary hyperekplexia ⚠
p.Ser75Ile Single submitter Inborn genetic diseases ⚠
p.Thr14Ala Single submitter hereditary hyperekplexia ⚠
p.Thr14Ile Single submitter hereditary hyperekplexia ⚠
p.Thr179Ile Single submitter hereditary hyperekplexia ⚠
p.Thr190Arg Single submitter hereditary hyperekplexia ⚠
p.Thr227Lys Single submitter hereditary hyperekplexia
p.Thr287Ile Single submitter ⚠
p.Thr49Ile Single submitter Inborn genetic diseases ⚠
p.Trp12Cys Single submitter hereditary hyperekplexia ⚠
p.Trp12Ser Single submitter hereditary hyperekplexia ⚠
p.Trp314Cys Single submitter hereditary hyperekplexia ⚠
p.Trp96Arg Single submitter hereditary hyperekplexia ⚠
p.Tyr256Cys Single submitter hereditary hyperekplexia ⚠
p.Tyr2Cys Single submitter hereditary hyperekplexia ⚠
p.Tyr2His Single submitter hereditary hyperekplexia ⚠
p.Tyr329His Single submitter hereditary hyperekplexia ⚠
p.Tyr434Cys Single submitter ⚠
p.Tyr434His Single submitter hereditary hyperekplexia ⚠
p.Tyr438Cys Single submitter hereditary hyperekplexia ⚠
p.Val177Phe Single submitter Inborn genetic diseases ⚠
p.Val206Gly Single submitter hereditary hyperekplexia ⚠
p.Val332Ile Single submitter hereditary hyperekplexia ⚠
p.Val382Leu Single submitter Inborn genetic diseases ⚠
p.Val441Ile Single submitter hereditary hyperekplexia ⚠
p.Val446Ala Single submitter hereditary hyperekplexia ⚠
p.Val65Gly Single submitter hereditary hyperekplexia ⚠
p.Val65Met Single submitter Inborn genetic diseases ⚠
p.Trp198Ser No assertion criteria hyperekplexia 1 ⚠
p.Trp267Arg No assertion criteria GLRA1-related disorder ⚠