PDHA1 — 894 ClinVar variants
All ClinVar germline PDHA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 147 flagged for review →
197 Pathogenic · 23 Pathogenic/Likely pathogenic · 150 Likely pathogenic · 31 Conflicting · 80 Benign · 20 Benign/Likely benign · 232 Likely benign · 161 Uncertain significance
Full PDHA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 147
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 9
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
PDHA1 p.Ala175Thr
Pathogenic
Multiple submitters
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Arg226His
Likely pathogenic
Single submitter
pyruvate dehydrogenase deficiency
-
PDHA1 p.Leu252Val
Likely pathogenic
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Leu260Val
Pathogenic
No assertion criteria
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Lys215Gln
Likely pathogenic
No assertion criteria
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Met282Val
Pathogenic
No assertion criteria
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Pro110His
Pathogenic
No assertion criteria
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Ser314Cys
Likely pathogenic
No assertion criteria
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Tyr369His
Likely pathogenic
No assertion criteria
pyruvate dehydrogenase E1-alpha deficiency
Predictors agree, ClinVar conflicts 14
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
PDHA1 p.Ala136Thr
Conflicting
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Ala330Gly
Conflicting
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Ala349Thr
Conflicting
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Ala6Thr
Conflicting
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Arg263Pro
Conflicting
Single submitter
Inborn genetic diseases
-
PDHA1 p.Asp33Val
Conflicting
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Glu188Asp
Conflicting
Single submitter
Inborn genetic diseases
-
PDHA1 p.Gly107Ser
Conflicting
Single submitter
Inborn genetic diseases
-
PDHA1 p.Gly256Arg
Conflicting
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
- PDHA1 p.Leu104Pro Conflicting Single submitter
-
PDHA1 p.Leu179Val
Conflicting
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Lys387Gln
Conflicting
Single submitter
Inborn genetic diseases
-
PDHA1 p.Met210Val
Conflicting
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Thr231Met
Conflicting
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
Predicted LoF vs a conflicting call 3
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
-
PDHA1 p.Phe386_Ter391=
Conflicting
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Ter391=
Conflicting
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Ter391Xaa
Conflicting
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
Predictors lean, ClinVar uncertain 73
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
PDHA1 p.Arg22Thr
Uncertain significance
Multiple submitters
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Arg88His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PDHA1 p.Asp348Val Uncertain significance Multiple submitters
-
PDHA1 p.Glu264Lys
Uncertain significance
Multiple submitters
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Glu334Lys
Uncertain significance
Multiple submitters
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Ile221Val
Uncertain significance
Multiple submitters
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Lys40Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PDHA1 p.Ser16Phe
Uncertain significance
Multiple submitters
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Ser331Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PDHA1 p.Thr354Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PDHA1 p.Tyr183Cys
Uncertain significance
Multiple submitters
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Val11Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PDHA1 c.*1721C>G Uncertain significance Single submitter
- PDHA1 p.Ala136Ser Uncertain significance Single submitter
-
PDHA1 p.Ala157Thr
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Ala15Val
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Ala236Val
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
- PDHA1 p.Ala355Thr Uncertain significance Single submitter
-
PDHA1 p.Ala6Val
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Arg132Gln
Uncertain significance
Single submitter
PDHA1-related disorder
-
PDHA1 p.Arg245Thr
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Arg274Thr
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
- PDHA1 p.Arg304Gln Uncertain significance Single submitter
-
PDHA1 p.Arg311Gly
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Asn32Ser
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
- PDHA1 p.Asp187His Uncertain significance Single submitter
-
PDHA1 p.Cys101Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDHA1 p.Cys145Tyr
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Cys41Arg
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Gln382Lys
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Gln80Pro
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Glu337Ala
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
- PDHA1 p.Glu337Asp Uncertain significance Single submitter
-
PDHA1 p.Glu341Gln
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Glu345Asp
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
- PDHA1 p.Glu345Lys Uncertain significance Single submitter
- PDHA1 p.Glu376Asp Uncertain significance Single submitter
-
PDHA1 p.Gly150Arg
Uncertain significance
Single submitter
PDHA1-related disorder
-
PDHA1 p.Gly162Trp
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
- PDHA1 p.Gly195Asp Uncertain significance Single submitter
-
PDHA1 p.Gly230Ala
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
- PDHA1 p.Gly365Ala Uncertain significance Single submitter
-
PDHA1 p.Gly89Ser
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
- PDHA1 p.Ile177Ser Uncertain significance Single submitter
-
PDHA1 p.Leu179Pro
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Leu364Arg
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
- PDHA1 p.Lys142Thr Uncertain significance Single submitter
- PDHA1 p.Lys215Glu Uncertain significance Single submitter
-
PDHA1 p.Lys244Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDHA1 p.Lys385Arg
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Lys77Asn
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Met153Thr
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Met210Ile
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Met257Val
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Phe205Val
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
- PDHA1 p.Pro110Ala Uncertain significance Single submitter
- PDHA1 p.Pro357Ala Uncertain significance Single submitter
-
PDHA1 p.Pro373Ser
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Thr303Ala
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Thr57Ile
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Tyr194Cys
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Tyr65Ser
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Val167Leu
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Val233Ala
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Val233Ile
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
- PDHA1 p.Val23Met Uncertain significance Single submitter
-
PDHA1 p.Val262Phe
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
- PDHA1 p.Val340Met Uncertain significance Single submitter
- PDHA1 p.Val342Met Uncertain significance Single submitter
- PDHA1 p.Val389Ala Uncertain significance Single submitter
-
PDHA1 p.Val8Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDHA1 p.Asn328Lys
Uncertain significance
No assertion criteria
pyruvate dehydrogenase deficiency
-
PDHA1 p.Asn381Ser
Uncertain significance
No assertion criteria
pyruvate dehydrogenase deficiency
Predictors split 48
The independent predictors disagree with each other — read with care.
-
PDHA1 p.Arg378Cys
Pathogenic
Expert panel
pyruvate dehydrogenase deficiency
-
PDHA1 p.Ile280Ser
Uncertain significance
Expert panel
pyruvate dehydrogenase deficiency
-
PDHA1 p.Arg141Gln
Pathogenic/Likely pathogenic
Multiple submitters
PDHA1-related disorder
-
PDHA1 p.Arg28Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PDHA1 p.Arg378His
Pathogenic/Likely pathogenic
Multiple submitters
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Arg45Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PDHA1 p.Asp33His
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
- PDHA1 p.His367Pro Pathogenic/Likely pathogenic Multiple submitters
-
PDHA1 p.Lys344Arg
Uncertain significance
Multiple submitters
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Met324Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PDHA1 p.Val262Ile
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
- PDHA1 p.Ala120Val Uncertain significance Single submitter
- PDHA1 p.Ala175Ser Uncertain significance Single submitter
-
PDHA1 p.Arg378Leu
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
- PDHA1 p.Arg66Thr Uncertain significance Single submitter
-
PDHA1 p.Asn381Lys
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Asp241Gly
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Asp247Asn
Uncertain significance
Single submitter
pyruvate dehydrogenase deficiency
-
PDHA1 p.Asp356Asn
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Gln285Arg
Conflicting
Single submitter
Inborn genetic diseases
-
PDHA1 p.Gln84Lys
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Glu133Lys
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Glu305Ala
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Glu363Ala
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Glu47Lys
Likely benign
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Gly379Val
Likely pathogenic
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Ile177Met
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
- PDHA1 p.Leu173Val Uncertain significance Single submitter
-
PDHA1 p.Met155Ile
Likely pathogenic
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
- PDHA1 p.Met155Leu Uncertain significance Single submitter
-
PDHA1 p.Met318Lys
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
- PDHA1 p.Phe268Leu Uncertain significance Single submitter
-
PDHA1 p.Pro316Ala
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Pro360Arg
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Pro51Leu
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
- PDHA1 p.Ser275Tyr Uncertain significance Single submitter
-
PDHA1 p.Thr57Ser
Uncertain significance
Single submitter
pyruvate dehydrogenase E1-alpha deficiency
- PDHA1 p.Tyr272Cys Uncertain significance Single submitter
-
PDHA1 p.Val377Gly
Likely pathogenic
Single submitter
PDHA1-related disorder
-
PDHA1 p.Arg10Pro
Pathogenic/Likely pathogenic
No assertion criteria
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Arg253Gly
Pathogenic
No assertion criteria
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Arg2Thr
Likely benign
No assertion criteria
Neurodevelopmental abnormality
-
PDHA1 p.Cys101Phe
Pathogenic
No assertion criteria
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Cys181Tyr
Pathogenic
No assertion criteria
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Gly143Arg
Uncertain significance
No assertion criteria
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Ser130Cys
Uncertain significance
No assertion criteria
pyruvate dehydrogenase deficiency
-
PDHA1 p.Ser388Pro
Likely pathogenic
No assertion criteria
pyruvate dehydrogenase E1-alpha deficiency
-
PDHA1 p.Trp383Arg
Pathogenic
No assertion criteria
pyruvate dehydrogenase E1-alpha deficiency
All PDHA1 variants
Pathogenic 197
- p.Ala169Val Expert panel pyruvate dehydrogenase deficiency
- p.Arg304Ter Expert panel pyruvate dehydrogenase deficiency
- p.Arg378Cys Expert panel pyruvate dehydrogenase deficiency ⚠
- p.Trp383fs Expert panel pyruvate dehydrogenase deficiency
- c.292-1G>A Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- c.899+2T>A Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- p.Ala175Thr Multiple submitters pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Arg263Gly Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- p.Arg263Ter Multiple submitters Inborn genetic diseases
- p.Arg288His Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- p.Arg302Cys Multiple submitters PDHA1-related disorder
- p.Arg311del Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- p.Arg88Cys Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- p.Glu347fs Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- p.Ile166= Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- p.Ile346fs Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- p.Pro217Leu Multiple submitters Inborn genetic diseases
- p.Ser312fs Multiple submitters PDHA1-related disorder
- p.Ser314fs Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- p.Ser388Ter Multiple submitters Inborn genetic diseases
- p.Tyr161= Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- c.1008+1_1008+27del Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.58-1G>A Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.760-1G>T Single submitter
- c.831+2T>C Single submitter
- c.832-1G>A Single submitter Inborn genetic diseases
- c.900-1_902dup Single submitter
- c.900-2A>G Single submitter
- p.Ala353fs Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Ala380delinsThrPheTer Single submitter Inborn genetic diseases
- p.Arg141Ter Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Arg22fs Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Arg245Ser Single submitter Inborn genetic diseases
- p.Arg263Gln Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Arg323fs Single submitter Inborn genetic diseases
- p.Arg343fs Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Arg378fs Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Arg73Ter Single submitter
- p.Asp247delinsSerGlnHisTer Single submitter
- p.Asp348fs Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Cys218Tyr Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Cys261Ter Single submitter
- p.Glu206Lys Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Glu333fs Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Glu347delinsValMetTrpLysTer Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Glu75Asp Single submitter pyruvate dehydrogenase deficiency
- p.Gly230fs Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Gly276fs Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Leu138Phe Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Leu319fs Single submitter
- p.Leu361fs Single submitter
- p.Lys215Ter Single submitter
- p.Lys321fs Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Lys385_Phe386insLys Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Met294fs Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Met318fs Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Pro172Leu Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Pro316Leu Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Ser331delinsArgValArgValThrLeuLeuCysPheSerArgThrGlyTrpTer Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Ser388fs Single submitter
- p.Trp214Cys Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Tyr242Ter Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Tyr243fs Single submitter
- p.Tyr301_Thr303delinsSer Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Val310_Arg311insSerGlnGluVal Single submitter
- p.Val342fs Single submitter
- c.292-2A>G No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- c.419-2A>G No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- c.511-30G>A No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- c.513_759+2del No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- c.562_858dup No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- c.760-2A>G No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- c.831+1G>A No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- c.894_899+1dup No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- c.899_918del No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- c.899+1G>C No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- c.900-1_903dup No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- c.900-1G>A No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- c.960_1008+5dup No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- c.966_1011dup No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- c.*79_*90dup No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Ala198Thr No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Ala199Thr No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Ala236fs No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Ala330fs No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Ala349fs No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Ala350fs No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Arg141Leu No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Arg235fs No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Arg235Gly No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Arg253Gly No assertion criteria pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Arg288fs No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Arg288Ser No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Arg302fs No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Arg302Leu No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Arg311fs No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Arg378_Gly379insLysGluIleGluAspAlaAlaGlnPheAlaThrAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArg No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Arg88Ser No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Asn381_Gln382insProPheGluValArgGlyAlaAsn No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Asn381_Ile384del No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Asn381fs No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Asp258Ala No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Asp296Asn No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Asp296Glu No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Asp322fs No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Asp356fs No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Asp372delinsAlaTer No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Cys101Phe No assertion criteria pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Cys145del No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Cys181Tyr No assertion criteria pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Cys222_Glu223delinsTer No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Cys41_Asp42delinsTyr No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Gln203fs No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Gln285Ter No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Gln351fs No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Gln351Ter No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Gln382Ter No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Gln84fs No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Glu188Lys No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Glu206Ter No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Glu283Lys No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Glu309fs No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Glu341fs No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Glu345Ter No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Glu358fs No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Glu376fs No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Glu75Ala No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Gly148Arg No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Gly150Glu No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Gly162Arg No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Gly195Ala No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Gly298fs No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Gly298Glu No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.His121Gln No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.His292Leu No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.His367Leu No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Ile177Thr No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Ile317fs No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Ile368fs No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Ile384fs No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Ile87Met No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Leu216Ser No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Leu260Val No assertion criteria pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Leu320_Lys321insLeu No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Leu329fs No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Leu335_Lys336insThrValHisGluLysLysPheArgLysTer No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Leu335fs No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Leu364_Gly365insGluGluLeu No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Leu364delinsArgSerTer No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Leu5fs No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Lys244fs No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Lys313_Ile317delinsAsn No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Lys313del No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Lys336_Glu337insLys No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Lys344_Glu345insIleAspValGluValArgLys No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Lys385_Phe386insLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArgGlyAlaAsnGlnTrpIleLys No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Lys387_Ser388insPheLys No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Lys387delinsThrValAspGlnValTer No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Lys387fs No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Lys387Ter No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Met153Val No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Met210Thr No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Met282Arg No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Met282Val No assertion criteria pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Phe160del No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Phe352fs No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Phe375_Arg378delinsCys No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Phe375_Glu376insLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPhe No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Phe375fs No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Phe386_Lys387del No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Phe386_Lys387insTrpIleLysPhe No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Phe386fs No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Pro110fs No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Pro110His No assertion criteria pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Pro217Arg No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Pro359_Ser370dup No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Pro360delinsArgAspTer No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Pro373_Pro374insGluLeuGlyTyrHisIleTyrSerSerAspPro No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Pro373_Pro374insTer No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Pro373fs No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Pro374_Phe375insLeuAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProPro No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Ser295Gly No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Ser314_Asp315insLysSer No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Ser327fs No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Ser371fs No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Thr231Ala No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Trp383Arg No assertion criteria pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Tyr243Asn No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Tyr243Cys No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Tyr243del No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Tyr243Ser No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Tyr243Ter No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Tyr289fs No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Tyr369del No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Tyr65Gln No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Val171Leu No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Val310fs No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
Pathogenic/Likely pathogenic 23
- c.1009-16_1010del Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- c.1011_1034del Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- p.Arg119Trp Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- p.Arg127Gln Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- p.Arg127Trp Multiple submitters PDHA1-related disorder
- p.Arg132Ter Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- p.Arg141Gln Multiple submitters PDHA1-related disorder ⚠
- p.Arg288Cys Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- p.Arg302His Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- p.Arg378His Multiple submitters pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Asn164Ser Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- p.Gly246= Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- p.Gly278Arg Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- p.Gly291Arg Multiple submitters Inborn genetic diseases
- p.His367Pro Multiple submitters ⚠
- p.Phe205Leu Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- p.Thr231Arg Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- p.Trp383Ter Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- p.Tyr161Cys Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- p.Val167Met Multiple submitters Inborn genetic diseases
- c.900-3_917dup No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Arg10Pro No assertion criteria pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Leu216Phe No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
Likely pathogenic 150
- p.Arg72Cys Expert panel pyruvate dehydrogenase deficiency
- p.Arg245Gly Multiple submitters pyruvate dehydrogenase deficiency
- p.Ser152Leu Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- c.57+2531T>C Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.899+2T>C Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.900-5_908dup Single submitter PDHA1-related disorder
- p.Ala236Glu Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Ala349Val Single submitter
- p.Arg226His Single submitter pyruvate dehydrogenase deficiency ⚠
- p.Arg245Lys Single submitter pyruvate dehydrogenase deficiency
- p.Arg263Leu Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Arg311_Ser312insArg Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Arg45fs Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Arg66fs Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Asn159Ile Single submitter
- p.Asn164Asp Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Asn209fs Single submitter
- p.Asn381_Gln382insHis Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Asp315Asn Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Asp356_Glu358dup Single submitter
- p.Gln351_Arg378dup Single submitter pyruvate dehydrogenase deficiency
- p.Glu105Lys Single submitter
- p.Glu137Lys Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Glu206Gln Single submitter Inborn genetic diseases
- p.Glu345delinsValMetTrpLysTer Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Glu358Lys Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Gly122Ser Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Gly128Asp Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Gly174Arg Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Gly176Arg Single submitter
- p.Gly379Val Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.His154Arg Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.His290Tyr Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Ile249Ser Single submitter
- p.Ile87Thr Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Leu173Pro Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Leu179Arg Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Leu252Val Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Lys149= Single submitter
- p.Met155Ile Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Met155Thr Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Met229Ile Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Met229Leu Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Pro250Leu Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Pro250Thr Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Pro374_Phe375insLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProPro Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Ser16fs Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Ser314delinsLysTer Single submitter
- p.Ser370fs Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Thr354Pro Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Thr53fs Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Trp214Arg Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Trp214Gly Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Trp214Ter Single submitter
- p.Tyr208Ter Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Tyr227His Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Tyr366Ter Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Val171Met Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Val325del Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Val342Gly Single submitter
- p.Val377Gly Single submitter PDHA1-related disorder ⚠
- c.291+1_418+1dup No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- c.291+5G>A No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- c.419-17_419-14del No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- c.511-414_899+584del No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- c.604-10C>G No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- c.762_831+2del No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- c.899+3_988del No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- c.900_932dup No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- c.900-12_920dup No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- c.900-15_906dup No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- c.900-3_922dup No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- c.900-41_900-23del No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- c.900-6_958dup No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Ala136Val No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Ala175Pro No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Ala198Val No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Ala207Pro No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Ala353Pro No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Ala353Thr No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Ala355_Asp356del No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Arg141Gly No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Arg288Leu No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Arg302_Glu309delinsLeuProGluPheLeuLeuValTyr No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Arg323_Val325del No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Asn200Thr No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Asn209Ser No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Asp112Gly No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Asp196Asn No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Asp296delinsGluTer No assertion criteria PDHA1-related disorder
- p.Cys101Arg No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Cys101fs No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Cys91Ser No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Gln308His No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Gln351Pro No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Gln97= No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Glu137Gln No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Glu137Gly No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Glu264fs No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Glu305_Glu306insIleValThrValHisGluLys No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Glu347_Asp348insIleAspValGluValArgLysGluIleGlu No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Glu362_Glu363insAspGluProProLeuGlu No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Glu75Gly No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Glu75Val No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Gly122Arg No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Gly144Arg No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Gly144Asp No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Gly144Ser No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Gly151Arg No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Gly165= No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Gly185= No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Gly230Arg No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Gly278Glu No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Gly298Arg No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.His113Asp No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.His290Pro No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.His367Arg No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.His44Arg No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Ile384_Lys385insAsnIleTyrSerSerAspProProPheGluValArgGlyAlaAsnGlnTrpIle No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Ile384_Lys385insAsnProProPheGluValArgGlyAlaAsnGlnTrpIle No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Leu329Arg No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Leu335_Lys336insMetValAsnSerAsnLeuAlaSerValGluGluLeu No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Leu335_Lys336insSerAsnLeuAlaSerValGluGluLeu No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Leu361_Pro374del No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Lys215Gln No assertion criteria pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Met282delinsIleLeu No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Phe160Asn No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Phe386_Lys387insThrPheGluValArgGlyAlaAsnGlnTrpIleLysPhe No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Phe90Ser No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Pro217Ala No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Pro217Thr No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Pro373_Pro374insTyrHisIleTyrSerSerAspPro No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Pro50Arg No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Pro50Ser No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Ser152Pro No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Ser152Thr No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Ser300fs No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Ser314Cys No assertion criteria pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Ser331_Val332insLysSerAspProIleMetLeuLeuLysAspArgMetValAsnSerAsnLeuAlaSer No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Ser388Pro No assertion criteria pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Thr111Ile No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Thr139Arg No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Thr231Lys No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Thr354_Ala355insGluAspAlaAlaGlnPheAlaThr No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Tyr161del No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Tyr227Cys No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Tyr369His No assertion criteria pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Val262Leu No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Val377_Arg378insGluVal No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
- p.Val71Ala No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
Conflicting classifications of pathogenicity 31
- c.1008+6_1008+28dup Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.292-23A>G Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.760-8_760-5dup Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.899+4C>T Single submitter Inborn genetic diseases
- c.*10_*12del Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.*432C>T Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.*549A>G Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.*575T>C Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Ala136Thr Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Ala169= Single submitter Inborn genetic diseases
- p.Ala330Gly Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Ala349Thr Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Ala6Thr Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Arg263Pro Single submitter Inborn genetic diseases ⚠
- p.Asn328= Single submitter Inborn genetic diseases
- p.Asp33Val Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Gln285Arg Single submitter Inborn genetic diseases ⚠
- p.Glu188Asp Single submitter Inborn genetic diseases ⚠
- p.Gly107Ser Single submitter Inborn genetic diseases ⚠
- p.Gly174= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Gly256Arg Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Gly298= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Leu104Pro Single submitter ⚠
- p.Leu179Val Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Lys387Gln Single submitter Inborn genetic diseases ⚠
- p.Met210Val Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Phe220= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Phe386_Ter391= Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Ter391= Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Ter391Xaa Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Thr231Met Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
Benign 80
- p.Ala265= Expert panel pyruvate dehydrogenase deficiency
- p.Glu333Asp Expert panel pyruvate dehydrogenase deficiency
- p.Met282Leu Expert panel pyruvate dehydrogenase deficiency
- c.1009-23T>C Multiple submitters
- c.118-76G>A Multiple submitters
- c.291+12G>A Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- c.291+52C>T Multiple submitters
- c.418+8G>A Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- c.419-249T>C Multiple submitters
- c.510+236G>T Multiple submitters
- c.511-178G>C Multiple submitters
- c.57+2432C>T Multiple submitters
- c.57+2482G>A Multiple submitters
- c.57+2591A>G Multiple submitters
- c.58-2558T>A Multiple submitters
- c.604-10C>T Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- c.604-15C>T Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- c.759+26GGCCAA[2] Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- c.760-15C>A Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- c.831+92C>G Multiple submitters
- c.832-211A>G Multiple submitters
- c.832-60C>T Multiple submitters
- c.899+18G>A Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- c.-195G>A Multiple submitters
- c.-88G>A Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- c.*1013C>A Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- c.*1059G>A Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- c.*110C>T Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- c.*1208A>C Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- c.*1377G>A Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- c.*1394C>T Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- c.*1598G>C Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- c.*1682T>C Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- c.*1869G>C Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- c.*319G>T Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- c.*322G>A Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- c.*614G>T Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- c.*728C>T Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- c.*844A>G Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- c.1008+51C>T Single submitter
- c.1008+7T>G Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.1009-17_1009-14dup Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.1009-18C>T Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.1009-211T>C Single submitter
- c.1009-31_1009-15del Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.1009-9A>C Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.117+17T>G Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.292-11C>T Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.292-27T>G Single submitter
- c.58-18A>C Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.58-260A>C Single submitter
- c.759+10C>G Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.759+18GGGGCC[3] Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.759+21dup Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.759+34_759+45del Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.759+9A>G Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.760-14_760-13del Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.760-14dup Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.831+211C>T Single submitter
- c.832-14C>T Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.899+10T>C Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.900-18_900-14dup Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.900-339C>T Single submitter
- c.900-8C>G Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.-98C>T Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.*1345A>G Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.*1450C>T Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.*1563C>G Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.*291_*297del Single submitter
- c.*392G>A Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.*525C>G Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.*707G>A Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.*83AATGAAATTC[1] Single submitter
- c.*857A>G Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.*864G>A Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Ala355= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Arg73= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Asn109= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Ser130= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Ser390= Single submitter pyruvate dehydrogenase E1-alpha deficiency
Benign/Likely benign 20
- c.117+19T>A Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- c.118-17A>G Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- c.292-5C>T Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- c.510+12C>T Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- c.57+2410dup Multiple submitters
- c.604-14G>A Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- c.759+26GGCCAA[4] Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- c.831+15C>T Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- c.899+12G>A Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- p.Arg132= Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- p.Asp33His Multiple submitters Inborn genetic diseases ⚠
- p.Asp372Asn Multiple submitters Inborn genetic diseases
- p.Gln84= Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- p.His121= Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- p.His290= Multiple submitters Inborn genetic diseases
- p.Ser371= Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- p.Thr266= Multiple submitters Inborn genetic diseases
- p.Thr354= Multiple submitters Inborn genetic diseases
- p.Val23= Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- p.Val262Ile Multiple submitters Inborn genetic diseases ⚠
Likely benign 232
- c.1009-9_1009-6dup Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- c.510+13G>A Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- c.510+187C>T Multiple submitters
- c.510+18T>C Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- c.57+11C>G Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- c.57+6A>T Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- c.58-84C>T Multiple submitters
- c.900-10C>A Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- p.Ala106= Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- p.Ala269= Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- p.Arg45Gln Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- p.Asp42Glu Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- p.Cys261= Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- p.Gln382= Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- p.Gly49= Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- p.Ile219= Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- p.Ser152= Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- p.Tyr287= Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- c.1008+117ATAGTTCC[4] Single submitter
- c.1008+16C>T Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.1008+17A>G Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.1008+18T>C Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.1008+6_1008+14dup Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.1008+6_1008+9dup Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.1008+9_1008+17dup Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.1008+9_1008+18dup Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.1009-11C>T Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.1009-12_1009-9dup Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.1009-14T>C Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.1009-16_1009-14dup Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.1009-16G>A Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.1009-16G>T Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.1009-17_1009-12del Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.1009-18_1009-10del Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.1009-18C>A Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.1009-28_1009-8del Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.1009-31_1009-7del Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.1009-3dup Single submitter
- c.117+15A>G Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.117+7G>A Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.117+9T>G Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.118-13T>A Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.118-16C>T Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.118-20A>C Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.118-8C>A Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.118-8C>T Single submitter
- c.291+74C>T Single submitter
- c.291+8G>A Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.292-10T>A Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.292-16C>T Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.292-304T>A Single submitter
- c.292-59C>T Single submitter pyruvate dehydrogenase deficiency
- c.292-7A>G Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.292-8T>A Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.292-9C>T Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.418+14T>A Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.418+8G>C Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.419-20G>A Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.419-20G>C Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.419-33G>A Single submitter
- c.419-8A>G Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.419-9C>A Single submitter
- c.510+19dup Single submitter
- c.511-12C>T Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.511-19C>T Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.511-48C>G Single submitter
- c.511-54G>A Single submitter pyruvate dehydrogenase deficiency
- c.511-5G>A Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.511-6_511-3dup Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.511-6T>C Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.57+1658C>G Single submitter
- c.57+16C>T Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.57+17G>A Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.57+17G>C Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.57+2160G>A Single submitter
- c.57+2399_57+2400insT Single submitter
- c.57+2399A>G Single submitter
- c.57+2400A>G Single submitter
- c.57+2410del Single submitter
- c.57+2481C>T Single submitter
- c.57+2535G>A Single submitter
- c.57+2548G>A Single submitter
- c.57+289T>C Single submitter
- c.57+7C>T Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.57+8C>A Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.58-4T>A Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.58-4T>C Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.58-8C>T Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.603+8T>G Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.603+9G>A Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.604-14G>C Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.604-14G>T Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.604-15C>G Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.604-19T>G Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.604-4C>G Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.604-8A>G Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.759+11C>G Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.759+23C>T Single submitter
- c.759+24G>A Single submitter
- c.759+26GGCCAA[5] Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.759+30_759+31delinsGG Single submitter
- c.759+34C>T Single submitter
- c.759+8C>T Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.759+9del Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.760-11T>C Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.760-12_760-9dup Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.760-13T>C Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.760-13T>G Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.760-15C>G Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.760-18T>G Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.760-19C>A Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.760-19C>T Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.760-5A>T Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.831+16C>T Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.831+18T>G Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.831+7C>T Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.831+8T>G Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.832-118A>G Single submitter
- c.832-14C>G Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.832-6T>C Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.832-7_832-4dup Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.832-9_832-8del Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.899+15A>C Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.899+15A>G Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.899+8C>T Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.899+9A>C Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.899+9A>G Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.900-10C>T Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.900-10del Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.900-163C>T Single submitter
- c.900-16T>C Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.900-17C>T Single submitter
- c.900-18_900-15dup Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.900-265T>C Single submitter
- c.900-283G>A Single submitter
- c.900-4A>C Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.900-4A>G Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.900-85_900-67dup Single submitter
- c.-23G>C Single submitter
- c.*1193CA[1] Single submitter
- c.*1302G>A Single submitter
- c.*1926G>C Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.*90T>A Single submitter
- p.Ala178= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Ala236= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Ala270= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Ala271= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Ala330= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Ala350= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Ala6= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Ala7= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Arg10= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Arg45= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Arg66= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Asn159= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Asn184= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Asn224= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Asn326= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Asn328Ser Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Asp112= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Asp255= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Asp322= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Cys100= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Cys145= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Gln80= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Glu137= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Glu234= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Glu47Lys Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Glu75= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Glu98= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Gly107= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Gly14= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Gly148= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Gly202= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Gly276= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Gly291= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.His154= Single submitter
- p.His367Tyr Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Ile115= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Ile221= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Ile346= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Ile38= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Leu135= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Leu193= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Leu213= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Leu252= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Leu260= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Leu284= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Leu319= Single submitter
- p.Leu320= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Leu361= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Leu5= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Leu62= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Lys18= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Lys186= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Lys215= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Lys244= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Lys385= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Phe125= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Phe205= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Phe90= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Pro110= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Pro172= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Pro279= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Pro297= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Pro316= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Ser232= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Ser239= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Ser370= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Ser390_Ter391insTer Single submitter pyruvate dehydrogenase deficiency
- p.Thr111= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Thr231= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Thr266Ala Single submitter
- p.Thr35= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Thr354Ala Single submitter Inborn genetic diseases
- p.Thr54= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Tyr118= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Tyr227= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Tyr243= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Tyr272= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Tyr289= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Tyr301= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Tyr64= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Val102= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Val167= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Val189= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Val233= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Val342= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Val71Ile Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.*1089_*1092dup No assertion criteria PDHA1-related disorder
- p.Arg2Thr No assertion criteria Neurodevelopmental abnormality ⚠
- p.Gly163= No assertion criteria
Uncertain significance 161
- p.Ile280Ser Expert panel pyruvate dehydrogenase deficiency ⚠
- c.900-2dup Multiple submitters pyruvate dehydrogenase deficiency
- p.Arg22Thr Multiple submitters pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Arg28Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg45Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg88His Multiple submitters Inborn genetic diseases ⚠
- p.Asp348Val Multiple submitters ⚠
- p.Glu264Lys Multiple submitters pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Glu334Lys Multiple submitters pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Ile221Val Multiple submitters pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Lys321_Val325dup Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
- p.Lys344Arg Multiple submitters pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Lys40Glu Multiple submitters Inborn genetic diseases ⚠
- p.Met324Ile Multiple submitters Inborn genetic diseases ⚠
- p.Ser16Phe Multiple submitters pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Ser331Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr354Met Multiple submitters Inborn genetic diseases ⚠
- p.Tyr183Cys Multiple submitters pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Val11Met Multiple submitters Inborn genetic diseases ⚠
- c.1008+4C>T Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.1009-22_1057dup Single submitter
- c.1009-46_1030dup Single submitter
- c.1009-6_1017dup Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.117+6A>C Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.511-18G>A Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.511-42A>G Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.57+2414A>G Single submitter
- c.57+2505C>G Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.759+26G>A Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.760-3C>G Single submitter
- c.899+4C>A Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.899+6C>T Single submitter
- c.900-12_936dup Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.960_1008+33dup Single submitter
- c.981_1008+6dup Single submitter
- c.998_1008+20dup Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.-79C>T Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.*1297G>A Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.*1306G>A Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.*1347C>T Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.*1376C>T Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.*1458C>T Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.*1624T>C Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.*1721C>G Single submitter ⚠
- c.*1779A>T Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.*17G>A Single submitter
- c.*1908G>A Single submitter
- c.*198G>A Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.*321C>T Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.*349A>G Single submitter pyruvate dehydrogenase E1-alpha deficiency
- c.*729G>A Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Ala120Val Single submitter ⚠
- p.Ala136Ser Single submitter ⚠
- p.Ala157Thr Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Ala15Val Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Ala175Ser Single submitter ⚠
- p.Ala236Val Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Ala355Thr Single submitter ⚠
- p.Ala6Val Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Arg132Gln Single submitter PDHA1-related disorder ⚠
- p.Arg245Thr Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Arg274Thr Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Arg304Gln Single submitter ⚠
- p.Arg311Gly Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Arg378Leu Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Arg45Gly Single submitter
- p.Arg66Thr Single submitter ⚠
- p.Asn32Ser Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Asn381_Gln382insHisGluValArgGlyAlaAsn Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Asn381Lys Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Asp112_Thr116del Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Asp187His Single submitter ⚠
- p.Asp241Gly Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Asp247Asn Single submitter pyruvate dehydrogenase deficiency ⚠
- p.Asp348_Gln351del Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Asp356Asn Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Cys101Trp Single submitter Inborn genetic diseases ⚠
- p.Cys145Tyr Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Cys41Arg Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Gln382Lys Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Gln80Pro Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Gln84Lys Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Glu133Lys Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Glu264Gly Single submitter
- p.Glu305Ala Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Glu309= Single submitter
- p.Glu337Ala Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Glu337Asp Single submitter ⚠
- p.Glu341Gln Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Glu345_Ile346insGlu Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Glu345Asp Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Glu345Lys Single submitter ⚠
- p.Glu363Ala Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Glu376Asp Single submitter ⚠
- p.Gly144del Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Gly150Arg Single submitter PDHA1-related disorder ⚠
- p.Gly162Trp Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Gly195= Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Gly195Asp Single submitter ⚠
- p.Gly230Ala Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Gly365Ala Single submitter ⚠
- p.Gly89Ser Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Ile177Met Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Ile177Ser Single submitter ⚠
- p.Leu173Val Single submitter ⚠
- p.Leu179Pro Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Leu364Arg Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Lys142Thr Single submitter ⚠
- p.Lys215Glu Single submitter ⚠
- p.Lys244Glu Single submitter Inborn genetic diseases ⚠
- p.Lys344_Glu345insAspAspValGluValArgLys Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Lys385Arg Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Lys385fs Single submitter
- p.Lys77Asn Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Met153Thr Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Met155Leu Single submitter ⚠
- p.Met210Ile Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Met257Val Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Met318Lys Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Phe205Val Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Phe268Leu Single submitter ⚠
- p.Pro110Ala Single submitter ⚠
- p.Pro316Ala Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Pro357Ala Single submitter ⚠
- p.Pro360Arg Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Pro373_Glu376del Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Pro373Ser Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Pro51Leu Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Ser275Tyr Single submitter ⚠
- p.Ser388_Val389insLysSer Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Ser390fs Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Ter391PheextTer? Single submitter
- p.Thr303Ala Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Thr57Ile Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Thr57Ser Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Tyr194Cys Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Tyr272Cys Single submitter ⚠
- p.Tyr369_Ser370insPheTyr Single submitter pyruvate dehydrogenase E1-alpha deficiency
- p.Tyr65Ser Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Val167Leu Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Val233Ala Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Val233Ile Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Val23Met Single submitter ⚠
- p.Val262Phe Single submitter pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.Val340Met Single submitter ⚠
- p.Val342Met Single submitter ⚠
- p.Val389Ala Single submitter ⚠
- p.Val8Ile Single submitter Inborn genetic diseases ⚠
- c.1009-17_1009-10del No assertion criteria pyruvate dehydrogenase deficiency
- c.117+10G>A No assertion criteria pyruvate dehydrogenase deficiency
- c.292-9C>G No assertion criteria pyruvate dehydrogenase deficiency
- c.419-20_419-13dup No assertion criteria pyruvate dehydrogenase deficiency
- c.604-11ACT[3] No assertion criteria pyruvate dehydrogenase deficiency
- c.832-10T>C No assertion criteria pyruvate dehydrogenase deficiency
- c.*81_*104dup No assertion criteria pyruvate dehydrogenase deficiency
- p.Asn328Lys No assertion criteria pyruvate dehydrogenase deficiency ⚠
- p.Asn381Ser No assertion criteria pyruvate dehydrogenase deficiency ⚠
- p.Cys218= No assertion criteria pyruvate dehydrogenase deficiency
- p.Gly143Arg No assertion criteria pyruvate dehydrogenase E1-alpha deficiency ⚠
- p.His367= No assertion criteria pyruvate dehydrogenase deficiency
- p.Ser130Cys No assertion criteria pyruvate dehydrogenase deficiency ⚠