PDHB — 370 ClinVar variants

All ClinVar germline PDHB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 75 flagged for review →

15 Pathogenic · 5 Pathogenic/Likely pathogenic · 20 Likely pathogenic · 10 Conflicting · 21 Benign · 5 Benign/Likely benign · 201 Likely benign · 93 Uncertain significance

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

⚑ Evidence disagreements 75

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 4

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

PDHB p.Arg105Gln Conflicting Single submitter
pyruvate dehydrogenase E1-beta deficiency
PDHB p.Arg36Cys Conflicting Single submitter
pyruvate dehydrogenase E1-beta deficiency
PDHB p.Asp319Val Conflicting Single submitter
pyruvate dehydrogenase E1-beta deficiency
PDHB p.Pro313Ala Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 52

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

PDHB p.Ala150Ser Uncertain significance Multiple submitters
pyruvate dehydrogenase E1-beta deficiency
PDHB p.Asn194Lys Uncertain significance Multiple submitters
Inborn genetic diseases
PDHB p.Glu264Lys Uncertain significance Multiple submitters
PDHB p.Ile279Thr Uncertain significance Multiple submitters
Inborn genetic diseases
PDHB p.Ile343Met Uncertain significance Multiple submitters
pyruvate dehydrogenase E1-beta deficiency
PDHB p.Pro214Leu Uncertain significance Multiple submitters
pyruvate dehydrogenase E1-beta deficiency
PDHB p.Ser5Pro Uncertain significance Multiple submitters
Inborn genetic diseases
PDHB p.Val261Ala Uncertain significance Multiple submitters
pyruvate dehydrogenase E1-beta deficiency
PDHB p.Val4Met Uncertain significance Multiple submitters
Inborn genetic diseases
PDHB p.Ala150Asp Uncertain significance Single submitter
pyruvate dehydrogenase E1-beta deficiency
PDHB p.Ala164Val Uncertain significance Single submitter
PDHB p.Ala216Ser Uncertain significance Single submitter
Inborn genetic diseases
PDHB p.Ala281Ser Uncertain significance Single submitter
pyruvate dehydrogenase E1-beta deficiency
PDHB p.Ala2Val Uncertain significance Single submitter
pyruvate dehydrogenase E1-beta deficiency
PDHB p.Arg192Leu Uncertain significance Single submitter
Inborn genetic diseases
PDHB p.Arg269His Uncertain significance Single submitter
pyruvate dehydrogenase E1-beta deficiency
PDHB p.Arg308Ser Uncertain significance Single submitter
Inborn genetic diseases
PDHB p.Arg324His Uncertain significance Single submitter
Inborn genetic diseases
PDHB p.Asp220Glu Uncertain significance Single submitter
pyruvate dehydrogenase E1-beta deficiency
PDHB p.Asp79Glu Uncertain significance Single submitter
Inborn genetic diseases
PDHB p.Cys306Arg Uncertain significance Single submitter
pyruvate dehydrogenase E1-beta deficiency
PDHB p.Gln160Glu Uncertain significance Single submitter
PDHB p.Gln233Arg Uncertain significance Single submitter
Inborn genetic diseases
PDHB p.Gln41Glu Uncertain significance Single submitter
pyruvate dehydrogenase E1-beta deficiency
PDHB p.Gly136Asp Uncertain significance Single submitter
PDHB p.Gly98Ser Uncertain significance Single submitter
pyruvate dehydrogenase E1-beta deficiency
PDHB p.Ile142Val Uncertain significance Single submitter
PDHB p.Ile187Thr Uncertain significance Single submitter
Inborn genetic diseases
PDHB p.Ile237Lys Uncertain significance Single submitter
pyruvate dehydrogenase E1-beta deficiency
PDHB p.Ile353Val Uncertain significance Single submitter
pyruvate dehydrogenase E1-beta deficiency
PDHB p.Leu289Pro Uncertain significance Single submitter
PDHB p.Leu47Val Uncertain significance Single submitter
PDHB p.Lys80Arg Uncertain significance Single submitter
pyruvate dehydrogenase E1-beta deficiency
PDHB p.Met205Ile Uncertain significance Single submitter
pyruvate dehydrogenase E1-beta deficiency
PDHB p.Met276Leu Uncertain significance Single submitter
pyruvate dehydrogenase E1-beta deficiency
PDHB p.Met284Ile Uncertain significance Single submitter
Inborn genetic diseases
PDHB p.Pro214Ser Uncertain significance Single submitter
pyruvate dehydrogenase E1-beta deficiency
PDHB p.Pro321Leu Uncertain significance Single submitter
pyruvate dehydrogenase E1-beta deficiency
PDHB p.Ser241Pro Uncertain significance Single submitter
pyruvate dehydrogenase E1-beta deficiency
PDHB p.Ser5Tyr Uncertain significance Single submitter
pyruvate dehydrogenase E1-beta deficiency
PDHB p.Ser70Cys Uncertain significance Single submitter
pyruvate dehydrogenase E1-beta deficiency
PDHB p.Val174Met Uncertain significance Single submitter
pyruvate dehydrogenase E1-beta deficiency
PDHB p.Val261Ile Uncertain significance Single submitter
pyruvate dehydrogenase E1-beta deficiency
PDHB p.Val265Leu Uncertain significance Single submitter
Inborn genetic diseases
PDHB p.Val4Ala Uncertain significance Single submitter
pyruvate dehydrogenase E1-beta deficiency
PDHB p.Ala128Pro Uncertain significance No assertion criteria
pyruvate dehydrogenase phosphatase deficiency
PDHB p.Gly234Arg Uncertain significance No assertion criteria
pyruvate dehydrogenase phosphatase deficiency
PDHB p.His236Gln Uncertain significance No assertion criteria
pyruvate dehydrogenase phosphatase deficiency
PDHB p.His242Tyr Uncertain significance No assertion criteria
pyruvate dehydrogenase phosphatase deficiency
PDHB p.Leu204Met Uncertain significance No assertion criteria
pyruvate dehydrogenase phosphatase deficiency
PDHB p.Ser70Asn Uncertain significance No assertion criteria
pyruvate dehydrogenase phosphatase deficiency
PDHB p.Trp165Cys Uncertain significance No assertion criteria
pyruvate dehydrogenase phosphatase deficiency

Predictors split 19

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

PDHB p.Ala314Val Uncertain significance Multiple submitters
Inborn genetic diseases
PDHB p.Glu259Gly Uncertain significance Multiple submitters
pyruvate dehydrogenase E1-beta deficiency
PDHB p.Glu259Val Uncertain significance Multiple submitters
pyruvate dehydrogenase E1-beta deficiency
PDHB p.Met101Val Pathogenic Multiple submitters
pyruvate dehydrogenase E1-beta deficiency
PDHB p.Ala127Ser Uncertain significance Single submitter
Inborn genetic diseases
PDHB p.Ala163Pro Uncertain significance Single submitter
pyruvate dehydrogenase E1-beta deficiency
PDHB p.Ala183Thr Uncertain significance Single submitter
pyruvate dehydrogenase E1-beta deficiency
PDHB p.Ala2Thr Uncertain significance Single submitter
pyruvate dehydrogenase E1-beta deficiency
PDHB p.Ala322Thr Uncertain significance Single submitter
Inborn genetic diseases
PDHB p.Asn148Ser Uncertain significance Single submitter
pyruvate dehydrogenase E1-beta deficiency
PDHB p.Ile142Met Conflicting Single submitter
pyruvate dehydrogenase E1-beta deficiency
PDHB p.Ile350Met Uncertain significance Single submitter
pyruvate dehydrogenase E1-beta deficiency
PDHB p.Tyr131Cys Uncertain significance Single submitter
Inborn genetic diseases
PDHB p.Gln62Arg Uncertain significance No assertion criteria
pyruvate dehydrogenase deficiency
PDHB p.Glu181Ala Uncertain significance No assertion criteria
pyruvate dehydrogenase phosphatase deficiency
PDHB p.Met101Thr Pathogenic No assertion criteria
pyruvate dehydrogenase E1-beta deficiency
PDHB p.Met274Thr Uncertain significance No assertion criteria
pyruvate dehydrogenase phosphatase deficiency
PDHB p.Tyr131Ser Uncertain significance No assertion criteria
pyruvate dehydrogenase phosphatase deficiency
PDHB p.Val283Ile Uncertain significance No assertion criteria
pyruvate dehydrogenase deficiency

All PDHB variants

Pathogenic 15

p.Met101Val Multiple submitters pyruvate dehydrogenase E1-beta deficiency ⚠
c.300_303+7del Single submitter
p.Ala155fs Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Asp193fs Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Gln160fs Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Met1Val Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Met268fs Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Pro214fs Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Ser218fs Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Trp165Ter Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Trp178Ter Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Tyr77Ter Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Met101Thr No assertion criteria pyruvate dehydrogenase E1-beta deficiency ⚠
p.Pro344Ser No assertion criteria pyruvate dehydrogenase E1-beta deficiency
p.Trp165Ser No assertion criteria pyruvate dehydrogenase E1-beta deficiency

Pathogenic/Likely pathogenic 5

p.Arg71Ter Multiple submitters pyruvate dehydrogenase E1-beta deficiency
p.Gln41fs Multiple submitters pyruvate dehydrogenase E1-beta deficiency
p.Glu231fs Multiple submitters pyruvate dehydrogenase E1-beta deficiency
p.Lys80fs Multiple submitters pyruvate dehydrogenase E1-beta deficiency
p.Val239fs Multiple submitters pyruvate dehydrogenase E1-beta deficiency

Likely pathogenic 20

c.934+1G>A Multiple submitters pyruvate dehydrogenase E1-beta deficiency
p.Gln118Ter Multiple submitters pyruvate dehydrogenase E1-beta deficiency
c.303+1G>C Single submitter pyruvate dehydrogenase E1-beta deficiency
c.304-1G>C Single submitter pyruvate dehydrogenase E1-beta deficiency
c.934+1G>T Single submitter pyruvate dehydrogenase phosphatase deficiency
p.Arg192Gln Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Gln157Ter Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Gln298fs Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Gln41Ter Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Glu203Ter Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Leu104Val Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Lys188Ter Single submitter pyruvate dehydrogenase phosphatase deficiency
p.Met1Thr Single submitter pyruvate dehydrogenase phosphatase deficiency
p.Pro224fs Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Pro273fs Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Ser126Ter Single submitter pyruvate dehydrogenase phosphatase deficiency
p.Tyr132Cys Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Val140Glu Single submitter
p.Val174fs Single submitter pyruvate dehydrogenase phosphatase deficiency
p.Val292fs Single submitter pyruvate dehydrogenase phosphatase deficiency

Conflicting classifications of pathogenicity 10

c.701-3C>T Single submitter pyruvate dehydrogenase E1-beta deficiency
c.-49T>C Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Arg105Gln Single submitter pyruvate dehydrogenase E1-beta deficiency ⚠
p.Arg36Cys Single submitter pyruvate dehydrogenase E1-beta deficiency ⚠
p.Asp319Val Single submitter pyruvate dehydrogenase E1-beta deficiency ⚠
p.Ile142Met Single submitter pyruvate dehydrogenase E1-beta deficiency ⚠
p.Ile83= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Leu357= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Pro313Ala Single submitter Inborn genetic diseases ⚠
p.Val15= Single submitter pyruvate dehydrogenase E1-beta deficiency

Benign 21

c.267+42G>A Multiple submitters pyruvate dehydrogenase E1-beta deficiency
c.303+130C>G Multiple submitters
c.303+306C>T Multiple submitters
c.304-237A>C Multiple submitters
c.701-41G>A Multiple submitters pyruvate dehydrogenase E1-beta deficiency
c.701-64G>T Multiple submitters pyruvate dehydrogenase E1-beta deficiency
c.793-41G>A Multiple submitters pyruvate dehydrogenase E1-beta deficiency
c.935-146G>C Multiple submitters pyruvate dehydrogenase E1-beta deficiency
c.97-216T>G Multiple submitters
c.97-218A>G Multiple submitters
c.-26G>A Multiple submitters pyruvate dehydrogenase E1-beta deficiency
c.*243A>C Multiple submitters pyruvate dehydrogenase E1-beta deficiency
c.*296C>G Multiple submitters pyruvate dehydrogenase E1-beta deficiency
c.*353T>C Multiple submitters pyruvate dehydrogenase E1-beta deficiency
c.*356A>G Multiple submitters pyruvate dehydrogenase E1-beta deficiency
c.*92C>A Multiple submitters pyruvate dehydrogenase E1-beta deficiency
c.*99C>T Multiple submitters pyruvate dehydrogenase E1-beta deficiency
p.Arg145= Multiple submitters pyruvate dehydrogenase E1-beta deficiency
c.304-102_304-101insAAT Single submitter
c.700+9del Single submitter pyruvate dehydrogenase E1-beta deficiency
c.793-76_793-75del Single submitter

Benign/Likely benign 5

c.204+9A>C Multiple submitters pyruvate dehydrogenase E1-beta deficiency
c.303+16T>C Multiple submitters pyruvate dehydrogenase E1-beta deficiency
p.Ala66= Multiple submitters pyruvate dehydrogenase E1-beta deficiency
p.Ala96= Multiple submitters pyruvate dehydrogenase E1-beta deficiency
p.Asp44= Multiple submitters pyruvate dehydrogenase E1-beta deficiency

Likely benign 201

c.304-237A>G Multiple submitters
c.590-71T>C Multiple submitters
c.793-19_793-14del Multiple submitters pyruvate dehydrogenase E1-beta deficiency
c.935-12T>G Multiple submitters pyruvate dehydrogenase E1-beta deficiency
c.935-4C>T Multiple submitters pyruvate dehydrogenase E1-beta deficiency
c.96+10G>A Multiple submitters pyruvate dehydrogenase E1-beta deficiency
c.96+12G>C Multiple submitters pyruvate dehydrogenase E1-beta deficiency
p.Asn194= Multiple submitters pyruvate dehydrogenase E1-beta deficiency
p.Asp50= Multiple submitters pyruvate dehydrogenase E1-beta deficiency
p.Lys188= Multiple submitters pyruvate dehydrogenase E1-beta deficiency
c.204+10A>C Single submitter pyruvate dehydrogenase E1-beta deficiency
c.204+10A>G Single submitter pyruvate dehydrogenase E1-beta deficiency
c.204+14A>G Single submitter pyruvate dehydrogenase E1-beta deficiency
c.204+15T>G Single submitter pyruvate dehydrogenase E1-beta deficiency
c.204+17A>G Single submitter pyruvate dehydrogenase E1-beta deficiency
c.204+9A>G Single submitter pyruvate dehydrogenase E1-beta deficiency
c.205-14A>T Single submitter pyruvate dehydrogenase E1-beta deficiency
c.205-16C>A Single submitter pyruvate dehydrogenase E1-beta deficiency
c.205-17T>C Single submitter
c.205-4G>C Single submitter pyruvate dehydrogenase E1-beta deficiency
c.205-4G>T Single submitter pyruvate dehydrogenase E1-beta deficiency
c.205-6T>C Single submitter pyruvate dehydrogenase E1-beta deficiency
c.205-8A>C Single submitter pyruvate dehydrogenase E1-beta deficiency
c.205-8A>G Single submitter pyruvate dehydrogenase E1-beta deficiency
c.205-9T>C Single submitter pyruvate dehydrogenase E1-beta deficiency
c.267+10C>A Single submitter pyruvate dehydrogenase E1-beta deficiency
c.267+16G>A Single submitter pyruvate dehydrogenase E1-beta deficiency
c.267+19A>G Single submitter pyruvate dehydrogenase E1-beta deficiency
c.267+8T>A Single submitter pyruvate dehydrogenase E1-beta deficiency
c.268-16A>G Single submitter pyruvate dehydrogenase E1-beta deficiency
c.268-7T>C Single submitter pyruvate dehydrogenase E1-beta deficiency
c.303+12T>A Single submitter pyruvate dehydrogenase E1-beta deficiency
c.303+13C>G Single submitter pyruvate dehydrogenase E1-beta deficiency
c.303+94G>A Single submitter
c.303+9T>C Single submitter pyruvate dehydrogenase E1-beta deficiency
c.304-10G>T Single submitter pyruvate dehydrogenase E1-beta deficiency
c.304-14T>A Single submitter pyruvate dehydrogenase E1-beta deficiency
c.304-16G>A Single submitter pyruvate dehydrogenase E1-beta deficiency
c.304-16G>T Single submitter pyruvate dehydrogenase E1-beta deficiency
c.304-17C>T Single submitter pyruvate dehydrogenase E1-beta deficiency
c.304-233C>T Single submitter
c.304-4dup Single submitter pyruvate dehydrogenase E1-beta deficiency
c.304-5T>C Single submitter pyruvate dehydrogenase E1-beta deficiency
c.304-8dup Single submitter pyruvate dehydrogenase E1-beta deficiency
c.304-8T>C Single submitter pyruvate dehydrogenase E1-beta deficiency
c.304-9A>C Single submitter pyruvate dehydrogenase E1-beta deficiency
c.42+14C>G Single submitter pyruvate dehydrogenase E1-beta deficiency
c.42+9C>T Single submitter pyruvate dehydrogenase E1-beta deficiency
c.43-12T>C Single submitter pyruvate dehydrogenase E1-beta deficiency
c.43-7C>T Single submitter pyruvate dehydrogenase E1-beta deficiency
c.589+11G>A Single submitter pyruvate dehydrogenase E1-beta deficiency
c.589+14C>T Single submitter pyruvate dehydrogenase E1-beta deficiency
c.589+7A>G Single submitter pyruvate dehydrogenase E1-beta deficiency
c.589+8C>G Single submitter pyruvate dehydrogenase E1-beta deficiency
c.589+9A>C Single submitter pyruvate dehydrogenase E1-beta deficiency
c.589+9A>G Single submitter pyruvate dehydrogenase E1-beta deficiency
c.590-11_590-10del Single submitter pyruvate dehydrogenase E1-beta deficiency
c.590-11A>G Single submitter pyruvate dehydrogenase E1-beta deficiency
c.590-12T>A Single submitter pyruvate dehydrogenase E1-beta deficiency
c.590-9G>A Single submitter pyruvate dehydrogenase E1-beta deficiency
c.700+17A>T Single submitter pyruvate dehydrogenase E1-beta deficiency
c.700+18T>C Single submitter pyruvate dehydrogenase E1-beta deficiency
c.701-102A>G Single submitter
c.701-10C>G Single submitter pyruvate dehydrogenase E1-beta deficiency
c.701-8G>A Single submitter pyruvate dehydrogenase E1-beta deficiency
c.792+13T>C Single submitter pyruvate dehydrogenase E1-beta deficiency
c.792+18T>C Single submitter pyruvate dehydrogenase E1-beta deficiency
c.792+19_792+24del Single submitter pyruvate dehydrogenase E1-beta deficiency
c.792+9A>G Single submitter pyruvate dehydrogenase E1-beta deficiency
c.793-10_793-7dup Single submitter pyruvate dehydrogenase E1-beta deficiency
c.793-13A>G Single submitter pyruvate dehydrogenase E1-beta deficiency
c.793-15A>G Single submitter pyruvate dehydrogenase E1-beta deficiency
c.793-16T>C Single submitter pyruvate dehydrogenase E1-beta deficiency
c.793-16T>G Single submitter pyruvate dehydrogenase E1-beta deficiency
c.793-19_793-16del Single submitter pyruvate dehydrogenase E1-beta deficiency
c.934+11G>T Single submitter pyruvate dehydrogenase E1-beta deficiency
c.935-14CTTC[3] Single submitter pyruvate dehydrogenase E1-beta deficiency
c.935-17A>G Single submitter pyruvate dehydrogenase E1-beta deficiency
c.935-17del Single submitter pyruvate dehydrogenase E1-beta deficiency
c.935-5C>A Single submitter pyruvate dehydrogenase E1-beta deficiency
c.935-5C>G Single submitter pyruvate dehydrogenase E1-beta deficiency
c.935-5C>T Single submitter pyruvate dehydrogenase E1-beta deficiency
c.935-7C>T Single submitter pyruvate dehydrogenase E1-beta deficiency
c.935-9T>C Single submitter pyruvate dehydrogenase E1-beta deficiency
c.96+13G>T Single submitter pyruvate dehydrogenase E1-beta deficiency
c.96+17C>T Single submitter pyruvate dehydrogenase E1-beta deficiency
c.96+19C>T Single submitter pyruvate dehydrogenase E1-beta deficiency
c.97-10C>T Single submitter pyruvate dehydrogenase E1-beta deficiency
c.97-13A>G Single submitter pyruvate dehydrogenase E1-beta deficiency
c.97-4A>T Single submitter pyruvate dehydrogenase E1-beta deficiency
c.97-5G>A Single submitter pyruvate dehydrogenase E1-beta deficiency
c.97-7G>C Single submitter pyruvate dehydrogenase E1-beta deficiency
c.97-8T>C Single submitter pyruvate dehydrogenase E1-beta deficiency
c.-5C>G Single submitter
c.*201T>C Single submitter pyruvate dehydrogenase E1-beta deficiency
c.*204C>G Single submitter
p.Ala102= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Ala127= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Ala128= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Ala150= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Ala152= Single submitter
p.Ala155= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Ala163= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Ala164= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Ala183= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Ala190= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Ala2= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Ala27= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Ala3= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Ala314= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Ala328= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Ala335= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Ala38= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Ala61= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Arg105= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Arg13= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Arg232= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Arg244= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Arg81= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Arg9= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Asn114= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Asn125= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Asn148= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Asn287= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Asn358= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Asp275= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Asp37Glu Single submitter Inborn genetic diseases
p.Asp79= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Cys161= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Cys169= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Cys249= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Gln160= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Gln345= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Glu109= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Glu280= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Glu45= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Glu46= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Glu59= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Gly103= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Gly136= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Gly146= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Gly167= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Gly207= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Gly247= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Gly295= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Gly302= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Gly72= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Gly91= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.His158= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.His236= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Ile191= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Ile223= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Ile225= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Ile305= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Ile309= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Ile349= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Ile87= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Leu12= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Leu137= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Leu18= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Leu200= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Leu256= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Leu318= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Leu338= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Leu47= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Lys173= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Lys336= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Lys355= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Lys52= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Phe113= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Phe299= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Phe315= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Phe317= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Phe351= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Pro11= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Pro139= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Pro139Ser Single submitter Inborn genetic diseases
p.Pro147= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Pro177= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Pro209= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Pro313= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Ser134= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Ser159= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Ser16= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Ser5= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Ter360= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Thr112= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Thr130= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Thr270= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Thr356= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Thr85= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Tyr132= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Tyr166= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Tyr334= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Tyr67= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Tyr77= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Val199= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Val239= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Val325= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Val33= Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Val8= Single submitter pyruvate dehydrogenase E1-beta deficiency

Uncertain significance 93

p.Ala150Ser Multiple submitters pyruvate dehydrogenase E1-beta deficiency ⚠
p.Ala314Val Multiple submitters Inborn genetic diseases ⚠
p.Arg71Gln Multiple submitters pyruvate dehydrogenase E1-beta deficiency
p.Asn194Lys Multiple submitters Inborn genetic diseases ⚠
p.Gln345His Multiple submitters Inborn genetic diseases
p.Glu259Gly Multiple submitters pyruvate dehydrogenase E1-beta deficiency ⚠
p.Glu259Val Multiple submitters pyruvate dehydrogenase E1-beta deficiency ⚠
p.Glu264Lys Multiple submitters ⚠
p.Ile279Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile343Met Multiple submitters pyruvate dehydrogenase E1-beta deficiency ⚠
p.Pro214Leu Multiple submitters pyruvate dehydrogenase E1-beta deficiency ⚠
p.Ser5Pro Multiple submitters Inborn genetic diseases ⚠
p.Val261Ala Multiple submitters pyruvate dehydrogenase E1-beta deficiency ⚠
p.Val4Met Multiple submitters Inborn genetic diseases ⚠
c.792+3del Single submitter pyruvate dehydrogenase E1-beta deficiency
c.97-3C>G Single submitter
c.-12G>A Single submitter pyruvate dehydrogenase E1-beta deficiency
c.-4C>T Single submitter pyruvate dehydrogenase E1-beta deficiency
c.*160A>G Single submitter pyruvate dehydrogenase E1-beta deficiency
c.*173C>T Single submitter pyruvate dehydrogenase E1-beta deficiency
c.*328A>G Single submitter pyruvate dehydrogenase E1-beta deficiency
c.*360A>G Single submitter pyruvate dehydrogenase E1-beta deficiency
c.*365T>A Single submitter pyruvate dehydrogenase E1-beta deficiency
c.*77C>T Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Ala127Ser Single submitter Inborn genetic diseases ⚠
p.Ala150Asp Single submitter pyruvate dehydrogenase E1-beta deficiency ⚠
p.Ala163Pro Single submitter pyruvate dehydrogenase E1-beta deficiency ⚠
p.Ala164Val Single submitter ⚠
p.Ala183Thr Single submitter pyruvate dehydrogenase E1-beta deficiency ⚠
p.Ala216Ser Single submitter Inborn genetic diseases ⚠
p.Ala281Ser Single submitter pyruvate dehydrogenase E1-beta deficiency ⚠
p.Ala2Thr Single submitter pyruvate dehydrogenase E1-beta deficiency ⚠
p.Ala2Val Single submitter pyruvate dehydrogenase E1-beta deficiency ⚠
p.Ala322Thr Single submitter Inborn genetic diseases ⚠
p.Arg192Leu Single submitter Inborn genetic diseases ⚠
p.Arg269His Single submitter pyruvate dehydrogenase E1-beta deficiency ⚠
p.Arg308Gly Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Arg308Ser Single submitter Inborn genetic diseases ⚠
p.Arg324His Single submitter Inborn genetic diseases ⚠
p.Asn148Ser Single submitter pyruvate dehydrogenase E1-beta deficiency ⚠
p.Asp220Glu Single submitter pyruvate dehydrogenase E1-beta deficiency ⚠
p.Asp79Glu Single submitter Inborn genetic diseases ⚠
p.Cys306Arg Single submitter pyruvate dehydrogenase E1-beta deficiency ⚠
p.Gln160Glu Single submitter ⚠
p.Gln233Arg Single submitter Inborn genetic diseases ⚠
p.Gln41Glu Single submitter pyruvate dehydrogenase E1-beta deficiency ⚠
p.Glu231Gln Single submitter Inborn genetic diseases
p.Glu259Lys Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Gly136Asp Single submitter ⚠
p.Gly98Ser Single submitter pyruvate dehydrogenase E1-beta deficiency ⚠
p.Ile142Val Single submitter ⚠
p.Ile187Thr Single submitter Inborn genetic diseases ⚠
p.Ile237Lys Single submitter pyruvate dehydrogenase E1-beta deficiency ⚠
p.Ile350Met Single submitter pyruvate dehydrogenase E1-beta deficiency ⚠
p.Ile353Val Single submitter pyruvate dehydrogenase E1-beta deficiency ⚠
p.Leu289Pro Single submitter ⚠
p.Leu47Val Single submitter ⚠
p.Lys336Glu Single submitter pyruvate dehydrogenase E1-beta deficiency
p.Lys80Arg Single submitter pyruvate dehydrogenase E1-beta deficiency ⚠
p.Met205Ile Single submitter pyruvate dehydrogenase E1-beta deficiency ⚠
p.Met276Leu Single submitter pyruvate dehydrogenase E1-beta deficiency ⚠
p.Met284Ile Single submitter Inborn genetic diseases ⚠
p.Pro214Ser Single submitter pyruvate dehydrogenase E1-beta deficiency ⚠
p.Pro321Leu Single submitter pyruvate dehydrogenase E1-beta deficiency ⚠
p.Ser241Pro Single submitter pyruvate dehydrogenase E1-beta deficiency ⚠
p.Ser5Tyr Single submitter pyruvate dehydrogenase E1-beta deficiency ⚠
p.Ser70Cys Single submitter pyruvate dehydrogenase E1-beta deficiency ⚠
p.Tyr131Cys Single submitter Inborn genetic diseases ⚠
p.Val174Met Single submitter pyruvate dehydrogenase E1-beta deficiency ⚠
p.Val261Ile Single submitter pyruvate dehydrogenase E1-beta deficiency ⚠
p.Val265Leu Single submitter Inborn genetic diseases ⚠
p.Val4Ala Single submitter pyruvate dehydrogenase E1-beta deficiency ⚠
c.701-8del No assertion criteria pyruvate dehydrogenase phosphatase deficiency
c.793-2dup No assertion criteria pyruvate dehydrogenase phosphatase deficiency
c.793-7del No assertion criteria pyruvate dehydrogenase phosphatase deficiency
c.934+6del No assertion criteria pyruvate dehydrogenase phosphatase deficiency
c.*7C>G No assertion criteria pyruvate dehydrogenase deficiency
p.Ala128Pro No assertion criteria pyruvate dehydrogenase phosphatase deficiency ⚠
p.Asp348Asn No assertion criteria pyruvate dehydrogenase phosphatase deficiency
p.Gln62Arg No assertion criteria pyruvate dehydrogenase deficiency ⚠
p.Glu181Ala No assertion criteria pyruvate dehydrogenase phosphatase deficiency ⚠
p.Gly234Arg No assertion criteria pyruvate dehydrogenase phosphatase deficiency ⚠
p.His236Gln No assertion criteria pyruvate dehydrogenase phosphatase deficiency ⚠
p.His242Tyr No assertion criteria pyruvate dehydrogenase phosphatase deficiency ⚠
p.Leu204Met No assertion criteria pyruvate dehydrogenase phosphatase deficiency ⚠
p.Met274Thr No assertion criteria pyruvate dehydrogenase phosphatase deficiency ⚠
p.Ser70Asn No assertion criteria pyruvate dehydrogenase phosphatase deficiency ⚠
p.Thr34= No assertion criteria pyruvate dehydrogenase phosphatase deficiency
p.Trp165Cys No assertion criteria pyruvate dehydrogenase phosphatase deficiency ⚠
p.Tyr131Ser No assertion criteria pyruvate dehydrogenase phosphatase deficiency ⚠
p.Val175Leu No assertion criteria pyruvate dehydrogenase phosphatase deficiency
p.Val283Ile No assertion criteria pyruvate dehydrogenase deficiency ⚠
p.Val330= No assertion criteria pyruvate dehydrogenase phosphatase deficiency