DLD — 698 ClinVar variants
All ClinVar germline DLD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 152 flagged for review →
31 Pathogenic · 16 Pathogenic/Likely pathogenic · 84 Likely pathogenic · 22 Conflicting · 38 Benign · 10 Benign/Likely benign · 319 Likely benign · 178 Uncertain significance
Full DLD gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 152
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
DLD p.Asp43Asn
Likely pathogenic
Single submitter
pyruvate dehydrogenase E3 deficiency
Predictors agree, ClinVar conflicts 9
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
DLD p.Arg19Gly
Conflicting
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Gln25Pro
Conflicting
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Gly461Glu
Conflicting
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Ile20Val
Conflicting
Single submitter
Inborn genetic diseases
-
DLD p.Ile47Thr
Conflicting
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Met255Leu
Conflicting
Single submitter
pyruvate dehydrogenase deficiency
-
DLD p.Thr34Ala
Conflicting
Single submitter
pyruvate dehydrogenase deficiency
-
DLD p.Thr79Ile
Conflicting
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Tyr54Cys
Conflicting
Single submitter
pyruvate dehydrogenase E3 deficiency
Predictors lean, ClinVar uncertain 79
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
DLD p.Ala501Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DLD p.Asn145Lys
Uncertain significance
Multiple submitters
pyruvate dehydrogenase E3 deficiency
-
DLD p.Asn498His
Uncertain significance
Multiple submitters
pyruvate dehydrogenase E3 deficiency
-
DLD p.Gly154Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DLD p.Ile480Thr
Uncertain significance
Multiple submitters
pyruvate dehydrogenase E3 deficiency
-
DLD p.Met255Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DLD p.Phe272Leu
Uncertain significance
Multiple submitters
pyruvate dehydrogenase E3 deficiency
-
DLD p.Ser28Pro
Uncertain significance
Multiple submitters
pyruvate dehydrogenase E3 deficiency
-
DLD p.Tyr386Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DLD p.Val248Ile Uncertain significance Multiple submitters
-
DLD p.Ala182Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- DLD p.Ala241Val Uncertain significance Single submitter
-
DLD p.Ala301Pro
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Ala301Thr
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Ala363Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLD p.Ala36Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLD p.Arg234Gly
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Arg263Cys
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Arg336Gly
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Asn73His
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
- DLD p.Asp196Tyr Uncertain significance Single submitter
-
DLD p.Asp355Glu
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Cys9Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLD p.Gln268Arg
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Gln2His
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
- DLD p.Glu398Ala Uncertain significance Single submitter
-
DLD p.Glu406Asp
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Gly170Ser
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Gly437Asp
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Gly64Ala
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
- DLD p.His102Gln Uncertain significance Single submitter
-
DLD p.His102Leu
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.His22Arg
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.His247Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLD p.His364Tyr
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.His383Arg
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Ile174Val
Uncertain significance
Single submitter
pyruvate dehydrogenase deficiency
-
DLD p.Ile181Thr
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
- DLD p.Ile219Asn Uncertain significance Single submitter
-
DLD p.Ile219Thr
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Ile257Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLD p.Ile47Arg
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Ile480Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLD p.Ile70Thr
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Leu322Phe
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Leu76Phe
Uncertain significance
Single submitter
pyruvate dehydrogenase deficiency
-
DLD p.Lys146Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLD p.Lys277Asn
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Lys404Asn
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Met255Ile
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Pro31Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLD p.Pro31Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLD p.Ser114Ala
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Ser491Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLD p.Ser5Gly
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
- DLD p.Ser88Phe Uncertain significance Single submitter
- DLD p.Thr183Met Uncertain significance Single submitter
- DLD p.Thr431Ala Uncertain significance Single submitter
-
DLD p.Tyr54Phe
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Tyr8Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLD p.Val308Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLD p.Val30Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLD p.Val382Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLD p.Val392Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLD p.Val55Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLD p.Ala301Gly
Uncertain significance
No assertion criteria
pyruvate dehydrogenase E3 deficiency
-
DLD p.Arg336Ser
Uncertain significance
No assertion criteria
pyruvate dehydrogenase E3 deficiency
-
DLD p.Asp385Glu
Uncertain significance
No assertion criteria
pyruvate dehydrogenase E3 deficiency
-
DLD p.Cys388Trp
Uncertain significance
No assertion criteria
pyruvate dehydrogenase E3 deficiency
-
DLD p.Gly249Asp
Uncertain significance
No assertion criteria
pyruvate dehydrogenase E3 deficiency
-
DLD p.Gly335Asp
Uncertain significance
No assertion criteria
pyruvate dehydrogenase E3 deficiency
-
DLD p.Gly474Arg
Uncertain significance
No assertion criteria
pyruvate dehydrogenase E3 deficiency
-
DLD p.Ile289Ser
Uncertain significance
No assertion criteria
pyruvate dehydrogenase E3 deficiency
-
DLD p.Ile384Met
Uncertain significance
No assertion criteria
pyruvate dehydrogenase E3 deficiency
-
DLD p.Ile86Val
Uncertain significance
No assertion criteria
pyruvate dehydrogenase E3 deficiency
-
DLD p.Leu490Ser
Uncertain significance
No assertion criteria
pyruvate dehydrogenase E3 deficiency
-
DLD p.Lys127Glu
Uncertain significance
No assertion criteria
pyruvate dehydrogenase E3 deficiency
-
DLD p.Met463Lys
Uncertain significance
No assertion criteria
pyruvate dehydrogenase E3 deficiency
-
DLD p.Thr276Ile
Uncertain significance
No assertion criteria
pyruvate dehydrogenase E3 deficiency
Predictors split 63
The independent predictors disagree with each other — read with care.
-
DLD p.Ala295Val
Uncertain significance
Multiple submitters
pyruvate dehydrogenase E3 deficiency
-
DLD p.Asp448Gly
Uncertain significance
Multiple submitters
pyruvate dehydrogenase E3 deficiency
-
DLD p.Gly287Glu
Uncertain significance
Multiple submitters
Leigh syndrome
-
DLD p.Lys410Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DLD p.Pro458Ala
Uncertain significance
Multiple submitters
pyruvate dehydrogenase E3 deficiency
-
DLD p.Thr157Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DLD p.Thr171Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DLD p.Thr194Met
Uncertain significance
Multiple submitters
pyruvate dehydrogenase E3 deficiency
- DLD p.Ala107Pro Uncertain significance Single submitter
-
DLD p.Ala164Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLD p.Ala167Thr
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Ala424Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLD p.Ala453Thr
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Arg263His
Conflicting
Single submitter
Inborn genetic diseases
-
DLD p.Arg495Gly
Likely pathogenic
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Asn340Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLD p.Asn93Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLD p.Asp121Asn
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Asp286Gly
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Asp290Gly
Conflicting
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Asp307Asn
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Gln126His
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Glu115Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLD p.Gly136Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLD p.Gly15Asp
Likely benign
Single submitter
pyruvate dehydrogenase E3 deficiency
- DLD p.Gly328Ala Uncertain significance Single submitter
-
DLD p.His140Arg
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Ile181Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLD p.Ile289Thr
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Ile304Thr
Conflicting
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Ile384Thr
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Ile480Met
Conflicting
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Leu27Phe
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Leu331Val
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
- DLD p.Lys284Met Uncertain significance Single submitter
-
DLD p.Met100Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLD p.Met123Val
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
- DLD p.Met377Val Uncertain significance Single submitter
-
DLD p.Met438Thr
Uncertain significance
Single submitter
Leigh syndrome
-
DLD p.Phe65Tyr
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Pro31Arg
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Pro39Leu
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Pro458Leu
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Ser10Phe
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
- DLD p.Ser208Phe Uncertain significance Single submitter
-
DLD p.Ser446Leu
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Ser491Pro
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Ser506Leu
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
- DLD p.Thr165Met Uncertain significance Single submitter
-
DLD p.Thr199Lys
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Tyr351Cys
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Val226Ala
Uncertain significance
Single submitter
pyruvate dehydrogenase deficiency
-
DLD p.Val251Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLD p.Val356Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLD p.Val55Ile
Uncertain significance
Single submitter
pyruvate dehydrogenase E3 deficiency
-
DLD p.Ala467Thr
Uncertain significance
No assertion criteria
pyruvate dehydrogenase E3 deficiency
-
DLD p.Ile200Met
Uncertain significance
No assertion criteria
pyruvate dehydrogenase E3 deficiency
-
DLD p.Lys445Glu
Uncertain significance
No assertion criteria
pyruvate dehydrogenase E3 deficiency
- DLD p.Phe106Ile Uncertain significance No assertion criteria
-
DLD p.Ser3Cys
Uncertain significance
No assertion criteria
pyruvate dehydrogenase E3 deficiency
-
DLD p.Ser405Pro
Uncertain significance
No assertion criteria
pyruvate dehydrogenase E3 deficiency
-
DLD p.Thr305Ile
Uncertain significance
No assertion criteria
pyruvate dehydrogenase E3 deficiency
-
DLD p.Val374Ile
Uncertain significance
No assertion criteria
pyruvate dehydrogenase E3 deficiency
All DLD variants
Pathogenic 31
- p.Tyr473fs Multiple submitters pyruvate dehydrogenase E3 deficiency
- c.118+1G>T Single submitter pyruvate dehydrogenase E3 deficiency
- p.Arg482fs Single submitter pyruvate dehydrogenase E3 deficiency
- p.Asp121fs Single submitter pyruvate dehydrogenase E3 deficiency
- p.Gln262fs Single submitter pyruvate dehydrogenase E3 deficiency
- p.Gln38Ter Single submitter pyruvate dehydrogenase E3 deficiency
- p.Gln62Ter Single submitter pyruvate dehydrogenase E3 deficiency
- p.Glu330Ter Single submitter pyruvate dehydrogenase E3 deficiency
- p.Glu411fs Single submitter pyruvate dehydrogenase E3 deficiency
- p.Glu466Ter Single submitter pyruvate dehydrogenase E3 deficiency
- p.Gly103fs Single submitter pyruvate dehydrogenase E3 deficiency
- p.Gly380fs Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ile372fs Single submitter pyruvate dehydrogenase E3 deficiency
- p.Leu235fs Single submitter pyruvate dehydrogenase E3 deficiency
- p.Lys127fs Single submitter pyruvate dehydrogenase E3 deficiency
- p.Lys177Ter Single submitter pyruvate dehydrogenase E3 deficiency
- p.Lys271fs Single submitter pyruvate dehydrogenase E3 deficiency
- p.Lys284fs Single submitter
- p.Met1Ile Single submitter pyruvate dehydrogenase E3 deficiency
- p.Met1Leu Single submitter pyruvate dehydrogenase E3 deficiency
- p.Met216fs Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ser285Ter Single submitter pyruvate dehydrogenase E3 deficiency
- p.Trp4Ter Single submitter pyruvate dehydrogenase E3 deficiency
- p.Tyr153Ter Single submitter pyruvate dehydrogenase E3 deficiency
- p.Tyr35fs Single submitter pyruvate dehydrogenase E3 deficiency
- p.Tyr35Ter Single submitter pyruvate dehydrogenase E3 deficiency
- p.Tyr386Ter Single submitter pyruvate dehydrogenase E3 deficiency
- p.Tyr416fs Single submitter pyruvate dehydrogenase E3 deficiency
- p.Tyr8Ter Single submitter pyruvate dehydrogenase E3 deficiency
- p.Val30_Pro39delinsAlaGluTer Single submitter pyruvate dehydrogenase E3 deficiency
- p.Arg482Gly No assertion criteria pyruvate dehydrogenase E3 deficiency
Pathogenic/Likely pathogenic 16
- c.1464+1G>A Multiple submitters pyruvate dehydrogenase E3 deficiency
- c.875+1G>A Multiple submitters pyruvate dehydrogenase E3 deficiency
- p.Arg316Ter Multiple submitters pyruvate dehydrogenase E3 deficiency
- p.Asp448fs Multiple submitters pyruvate dehydrogenase E3 deficiency
- p.Asp479Val Multiple submitters pyruvate dehydrogenase E3 deficiency
- p.Gln268fs Multiple submitters pyruvate dehydrogenase E3 deficiency
- p.Glu375Lys Multiple submitters DLD-related disorder
- p.Gly137del Multiple submitters pyruvate dehydrogenase E3 deficiency
- p.Gly229Cys Multiple submitters DLD-related disorder
- p.His96fs Multiple submitters pyruvate dehydrogenase E3 deficiency
- p.Ile353Thr Multiple submitters pyruvate dehydrogenase E3 deficiency
- p.Leu274fs Multiple submitters pyruvate dehydrogenase E3 deficiency
- p.Lys59Ter Multiple submitters pyruvate dehydrogenase E3 deficiency
- p.Ser28fs Multiple submitters pyruvate dehydrogenase E3 deficiency
- p.Thr34_Tyr35insTer Multiple submitters pyruvate dehydrogenase E3 deficiency
- p.Tyr394Ter Multiple submitters pyruvate dehydrogenase E3 deficiency
Likely pathogenic 84
- c.198+1G>T Multiple submitters pyruvate dehydrogenase E3 deficiency
- c.39+1G>A Multiple submitters pyruvate dehydrogenase E3 deficiency
- c.40-2A>G Multiple submitters pyruvate dehydrogenase E3 deficiency
- c.583-1G>C Multiple submitters pyruvate dehydrogenase E3 deficiency
- c.684+1G>T Multiple submitters pyruvate dehydrogenase E3 deficiency
- p.Arg315Ter Multiple submitters pyruvate dehydrogenase E3 deficiency
- p.Gly246fs Multiple submitters pyruvate dehydrogenase E3 deficiency
- p.Lys346Ter Multiple submitters pyruvate dehydrogenase E3 deficiency
- p.Met361Val Multiple submitters pyruvate dehydrogenase E3 deficiency
- p.Pro488Leu Multiple submitters pyruvate dehydrogenase E3 deficiency
- p.Pro87Ser Multiple submitters pyruvate dehydrogenase E3 deficiency
- c.1046+1G>T Single submitter pyruvate dehydrogenase E3 deficiency
- c.1047-1G>A Single submitter pyruvate dehydrogenase E3 deficiency
- c.1047-2A>G Single submitter pyruvate dehydrogenase E3 deficiency
- c.119-1G>A Single submitter pyruvate dehydrogenase E3 deficiency
- c.119-1G>T Single submitter pyruvate dehydrogenase E3 deficiency
- c.1237-2A>G Single submitter pyruvate dehydrogenase E3 deficiency
- c.199-1G>A Single submitter pyruvate dehydrogenase E3 deficiency
- c.268-1G>A Single submitter pyruvate dehydrogenase E3 deficiency
- c.337+1G>T Single submitter pyruvate dehydrogenase E3 deficiency
- c.337+4_337+7del Single submitter pyruvate dehydrogenase E3 deficiency
- c.338-1G>A Single submitter pyruvate dehydrogenase E3 deficiency
- c.338-1G>C Single submitter pyruvate dehydrogenase E3 deficiency
- c.338-2A>G Single submitter pyruvate dehydrogenase E3 deficiency
- c.39+1G>T Single submitter pyruvate dehydrogenase E3 deficiency
- c.439-1G>C Single submitter pyruvate dehydrogenase E3 deficiency
- c.439-2A>G Single submitter pyruvate dehydrogenase E3 deficiency
- c.582+2T>C Single submitter pyruvate dehydrogenase E3 deficiency
- c.875+1G>T Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ala296fs Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ala363fs Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ala381fs Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ala61Val Single submitter
- p.Arg109Ter Single submitter pyruvate dehydrogenase E3 deficiency
- p.Arg495Gly Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Asn340fs Single submitter pyruvate dehydrogenase E3 deficiency
- p.Asp286fs Single submitter pyruvate dehydrogenase E3 deficiency
- p.Asp368fs Single submitter pyruvate dehydrogenase E3 deficiency
- p.Asp43Asn Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Cys312Ter Single submitter pyruvate dehydrogenase E3 deficiency
- p.Cys373Ter Single submitter pyruvate dehydrogenase E3 deficiency
- p.Gln262Ter Single submitter pyruvate dehydrogenase E3 deficiency
- p.Gln266Ter Single submitter pyruvate dehydrogenase E3 deficiency
- p.Gln268Ter Single submitter pyruvate dehydrogenase E3 deficiency
- p.Gln2Ter Single submitter pyruvate dehydrogenase E3 deficiency
- p.Gln62Arg Single submitter
- p.Glu197Ter Single submitter pyruvate dehydrogenase E3 deficiency
- p.Glu302Ter Single submitter pyruvate dehydrogenase E3 deficiency
- p.Glu369Ter Single submitter pyruvate dehydrogenase E3 deficiency
- p.Glu407Ter Single submitter pyruvate dehydrogenase E3 deficiency
- p.Glu412fs Single submitter pyruvate dehydrogenase E3 deficiency
- p.Gly192fs Single submitter pyruvate dehydrogenase E3 deficiency
- p.Gly250Ter Single submitter pyruvate dehydrogenase E3 deficiency
- p.His396fs Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ile371fs Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ile393Thr Single submitter pyruvate dehydrogenase E3 deficiency
- p.Leu76fs Single submitter pyruvate dehydrogenase E3 deficiency
- p.Lys211fs Single submitter pyruvate dehydrogenase E3 deficiency
- p.Lys267fs Single submitter pyruvate dehydrogenase E3 deficiency
- p.Lys277Ter Single submitter pyruvate dehydrogenase E3 deficiency
- p.Lys300Ter Single submitter pyruvate dehydrogenase E3 deficiency
- p.Lys440Ter Single submitter pyruvate dehydrogenase E3 deficiency
- p.Lys72Glu Single submitter pyruvate dehydrogenase E3 deficiency
- p.Pro422fs Single submitter pyruvate dehydrogenase E3 deficiency
- p.Pro488fs Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ser128fs Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ser405Ter Single submitter pyruvate dehydrogenase E3 deficiency
- p.Thr165fs Single submitter pyruvate dehydrogenase E3 deficiency
- p.Thr199fs Single submitter pyruvate dehydrogenase E3 deficiency
- p.Tyr8fs Single submitter pyruvate dehydrogenase E3 deficiency
- p.Val212fs Single submitter pyruvate dehydrogenase E3 deficiency
- p.Val339fs Single submitter pyruvate dehydrogenase E3 deficiency
- p.Val382_His383insTer Single submitter pyruvate dehydrogenase E3 deficiency
- p.Val7fs Single submitter pyruvate dehydrogenase E3 deficiency
- c.1236+1G>T No assertion criteria pyruvate dehydrogenase E3 deficiency
- c.198+1G>A No assertion criteria pyruvate dehydrogenase E3 deficiency
- c.268-2A>G No assertion criteria pyruvate dehydrogenase E3 deficiency
- c.338-2_338-1delinsT No assertion criteria pyruvate dehydrogenase E3 deficiency
- p.Cys477fs No assertion criteria pyruvate dehydrogenase E3 deficiency
- p.Gly474fs No assertion criteria pyruvate dehydrogenase E3 deficiency
- p.Ile289fs No assertion criteria pyruvate dehydrogenase E3 deficiency
- p.Ile507fs No assertion criteria pyruvate dehydrogenase E3 deficiency
- p.Thr75fs No assertion criteria pyruvate dehydrogenase E3 deficiency
- p.Val116fs No assertion criteria pyruvate dehydrogenase E3 deficiency
Conflicting classifications of pathogenicity 22
- c.1465-7C>G Single submitter pyruvate dehydrogenase deficiency
- c.*1640A>G Single submitter Leigh syndrome
- c.*1736T>C Single submitter pyruvate dehydrogenase deficiency
- c.*1876G>A Single submitter pyruvate dehydrogenase E3 deficiency
- c.*470G>A Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ala107= Single submitter pyruvate dehydrogenase deficiency
- p.Ala501= Single submitter pyruvate dehydrogenase deficiency
- p.Arg19Gly Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Arg263His Single submitter Inborn genetic diseases ⚠
- p.Asp290Gly Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Gln25Pro Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Glu125= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Gly461Glu Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Ile181= Single submitter pyruvate dehydrogenase deficiency
- p.Ile20Val Single submitter Inborn genetic diseases ⚠
- p.Ile304Thr Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Ile47Thr Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Ile480Met Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Met255Leu Single submitter pyruvate dehydrogenase deficiency ⚠
- p.Thr34Ala Single submitter pyruvate dehydrogenase deficiency ⚠
- p.Thr79Ile Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Tyr54Cys Single submitter pyruvate dehydrogenase E3 deficiency ⚠
Benign 38
- c.119-85G>A Multiple submitters
- c.1236+13A>G Multiple submitters pyruvate dehydrogenase E3 deficiency
- c.199-108T>C Multiple submitters pyruvate dehydrogenase E3 deficiency
- c.337+216C>G Multiple submitters
- c.39+199G>A Multiple submitters
- c.438+83G>A Multiple submitters pyruvate dehydrogenase E3 deficiency
- c.583-71A>G Multiple submitters
- c.684+124A>G Multiple submitters
- c.684+189G>C Multiple submitters
- c.684+7G>A Multiple submitters pyruvate dehydrogenase deficiency
- c.685-14T>A Multiple submitters pyruvate dehydrogenase deficiency
- c.-417A>T Multiple submitters
- c.*1451T>C Multiple submitters pyruvate dehydrogenase E3 deficiency
- c.*1688G>A Multiple submitters pyruvate dehydrogenase E3 deficiency
- c.*18A>T Multiple submitters pyruvate dehydrogenase deficiency
- c.*207G>A Multiple submitters Leigh syndrome
- c.*28G>T Multiple submitters Leigh syndrome
- c.*487C>T Multiple submitters pyruvate dehydrogenase E3 deficiency
- c.*947G>T Multiple submitters pyruvate dehydrogenase E3 deficiency
- c.*978T>C Multiple submitters pyruvate dehydrogenase E3 deficiency
- p.Gly225= Multiple submitters pyruvate dehydrogenase E3 deficiency
- p.Leu451= Multiple submitters pyruvate dehydrogenase deficiency
- p.Lys259= Multiple submitters pyruvate dehydrogenase deficiency
- p.Val83= Multiple submitters pyruvate dehydrogenase deficiency
- c.1237-15_1237-14del Single submitter pyruvate dehydrogenase E3 deficiency
- c.1464+11A>G Single submitter pyruvate dehydrogenase E3 deficiency
- c.267+15del Single submitter pyruvate dehydrogenase E3 deficiency
- c.267+235C>T Single submitter
- c.39+99dup Single submitter
- c.40-5del Single submitter pyruvate dehydrogenase E3 deficiency
- c.439-7del Single submitter pyruvate dehydrogenase E3 deficiency
- c.582+267G>T Single submitter
- c.685-14del Single submitter pyruvate dehydrogenase E3 deficiency
- c.875+281T>C Single submitter
- c.*1074C>G Single submitter pyruvate dehydrogenase E3 deficiency
- c.*1300A>G Single submitter pyruvate dehydrogenase deficiency
- c.*18del Single submitter
- c.*855C>T Single submitter pyruvate dehydrogenase E3 deficiency
Benign/Likely benign 10
- c.338-18T>A Multiple submitters pyruvate dehydrogenase E3 deficiency
- c.439-7T>C Multiple submitters pyruvate dehydrogenase deficiency
- c.*470G>T Multiple submitters pyruvate dehydrogenase E3 deficiency
- c.*474T>C Multiple submitters pyruvate dehydrogenase E3 deficiency
- c.*648G>A Multiple submitters pyruvate dehydrogenase E3 deficiency
- p.Ala12Thr Multiple submitters pyruvate dehydrogenase deficiency
- p.Asn465= Multiple submitters pyruvate dehydrogenase E3 deficiency
- p.Gly474= Multiple submitters pyruvate dehydrogenase deficiency
- p.Thr183= Multiple submitters pyruvate dehydrogenase E3 deficiency
- c.*887T>C Single submitter pyruvate dehydrogenase deficiency
Likely benign 319
Showing the top 300 by review status; the full set is in the sitemap.
- c.119-4G>A Multiple submitters pyruvate dehydrogenase E3 deficiency
- c.199-6T>C Multiple submitters pyruvate dehydrogenase E3 deficiency
- c.267+117C>G Multiple submitters
- c.337+105A>G Multiple submitters
- c.337+154A>C Multiple submitters
- c.338-81T>A Multiple submitters
- c.39+209C>T Multiple submitters
- c.39+317G>C Multiple submitters
- c.684+105G>C Multiple submitters
- c.876-54C>G Multiple submitters
- p.Ala500= Multiple submitters pyruvate dehydrogenase E3 deficiency
- p.Asn18Ser Multiple submitters Inborn genetic diseases
- p.Asn94= Multiple submitters pyruvate dehydrogenase E3 deficiency
- p.Cys484= Multiple submitters pyruvate dehydrogenase E3 deficiency
- p.Thr165= Multiple submitters pyruvate dehydrogenase E3 deficiency
- p.Thr276Ser Multiple submitters pyruvate dehydrogenase E3 deficiency
- p.Tyr35= Multiple submitters pyruvate dehydrogenase E3 deficiency
- p.Tyr394= Multiple submitters pyruvate dehydrogenase E3 deficiency
- c.1046+16G>A Single submitter pyruvate dehydrogenase E3 deficiency
- c.1046+16G>T Single submitter pyruvate dehydrogenase E3 deficiency
- c.1047-13_1047-5del Single submitter pyruvate dehydrogenase E3 deficiency
- c.1047-13A>T Single submitter pyruvate dehydrogenase E3 deficiency
- c.1047-19C>A Single submitter pyruvate dehydrogenase E3 deficiency
- c.1047-4G>T Single submitter pyruvate dehydrogenase E3 deficiency
- c.1047-7_1047-4del Single submitter pyruvate dehydrogenase E3 deficiency
- c.1047-7G>A Single submitter pyruvate dehydrogenase E3 deficiency
- c.1047-7G>T Single submitter pyruvate dehydrogenase E3 deficiency
- c.118+10T>G Single submitter pyruvate dehydrogenase E3 deficiency
- c.118+11A>G Single submitter pyruvate dehydrogenase E3 deficiency
- c.118+13G>A Single submitter pyruvate dehydrogenase E3 deficiency
- c.118+18A>G Single submitter pyruvate dehydrogenase E3 deficiency
- c.118+191C>T Single submitter
- c.118+19C>G Single submitter pyruvate dehydrogenase E3 deficiency
- c.118+19C>T Single submitter pyruvate dehydrogenase E3 deficiency
- c.119-16T>C Single submitter pyruvate dehydrogenase E3 deficiency
- c.119-18A>T Single submitter pyruvate dehydrogenase E3 deficiency
- c.119-5C>T Single submitter pyruvate dehydrogenase E3 deficiency
- c.119-79T>G Single submitter
- c.119-7A>G Single submitter pyruvate dehydrogenase E3 deficiency
- c.119-9T>C Single submitter pyruvate dehydrogenase E3 deficiency
- c.1236+13A>T Single submitter pyruvate dehydrogenase E3 deficiency
- c.1236+16G>A Single submitter pyruvate dehydrogenase E3 deficiency
- c.1236+16G>T Single submitter pyruvate dehydrogenase E3 deficiency
- c.1236+19_1236+20insAAAA Single submitter pyruvate dehydrogenase E3 deficiency
- c.1236+204A>G Single submitter
- c.1236+7C>A Single submitter pyruvate dehydrogenase E3 deficiency
- c.1236+7C>T Single submitter
- c.1236+9G>A Single submitter pyruvate dehydrogenase E3 deficiency
- c.1237-102C>G Single submitter
- c.1237-13C>G Single submitter pyruvate dehydrogenase E3 deficiency
- c.1237-17T>C Single submitter pyruvate dehydrogenase E3 deficiency
- c.1237-5C>T Single submitter pyruvate dehydrogenase E3 deficiency
- c.1237-7G>A Single submitter pyruvate dehydrogenase E3 deficiency
- c.1237-7G>C Single submitter pyruvate dehydrogenase E3 deficiency
- c.1374+10G>A Single submitter pyruvate dehydrogenase E3 deficiency
- c.1374+12A>G Single submitter pyruvate dehydrogenase E3 deficiency
- c.1374+16C>T Single submitter pyruvate dehydrogenase E3 deficiency
- c.1374+17C>T Single submitter pyruvate dehydrogenase E3 deficiency
- c.1374+8T>C Single submitter pyruvate dehydrogenase E3 deficiency
- c.1374+9T>A Single submitter pyruvate dehydrogenase E3 deficiency
- c.1374+9T>G Single submitter pyruvate dehydrogenase E3 deficiency
- c.1375-17G>T Single submitter pyruvate dehydrogenase E3 deficiency
- c.1375-232A>G Single submitter
- c.1464+16A>G Single submitter pyruvate dehydrogenase E3 deficiency
- c.1464+17T>C Single submitter pyruvate dehydrogenase E3 deficiency
- c.1464+19T>C Single submitter pyruvate dehydrogenase E3 deficiency
- c.1465-12C>T Single submitter pyruvate dehydrogenase E3 deficiency
- c.1465-16A>T Single submitter pyruvate dehydrogenase E3 deficiency
- c.1465-19T>C Single submitter pyruvate dehydrogenase E3 deficiency
- c.1465-30G>T Single submitter
- c.1465-9C>T Single submitter pyruvate dehydrogenase E3 deficiency
- c.198+10G>C Single submitter pyruvate dehydrogenase E3 deficiency
- c.198+253A>G Single submitter
- c.199-10T>C Single submitter pyruvate dehydrogenase E3 deficiency
- c.199-210A>T Single submitter
- c.199-4G>A Single submitter pyruvate dehydrogenase E3 deficiency
- c.199-4G>T Single submitter pyruvate dehydrogenase E3 deficiency
- c.199-7G>T Single submitter pyruvate dehydrogenase E3 deficiency
- c.267+12T>C Single submitter pyruvate dehydrogenase E3 deficiency
- c.267+8T>A Single submitter pyruvate dehydrogenase E3 deficiency
- c.267+9G>A Single submitter pyruvate dehydrogenase E3 deficiency
- c.267+9G>C Single submitter pyruvate dehydrogenase E3 deficiency
- c.268-104G>A Single submitter
- c.268-15T>C Single submitter pyruvate dehydrogenase E3 deficiency
- c.268-19T>C Single submitter pyruvate dehydrogenase E3 deficiency
- c.268-20A>T Single submitter pyruvate dehydrogenase E3 deficiency
- c.268-291C>T Single submitter
- c.268-6C>T Single submitter pyruvate dehydrogenase E3 deficiency
- c.268-7C>T Single submitter pyruvate dehydrogenase E3 deficiency
- c.337+10C>T Single submitter pyruvate dehydrogenase E3 deficiency
- c.337+16A>G Single submitter pyruvate dehydrogenase E3 deficiency
- c.337+17T>C Single submitter pyruvate dehydrogenase E3 deficiency
- c.337+19C>T Single submitter pyruvate dehydrogenase E3 deficiency
- c.337+7A>G Single submitter pyruvate dehydrogenase E3 deficiency
- c.338-18del Single submitter pyruvate dehydrogenase E3 deficiency
- c.338-282G>A Single submitter
- c.338-4A>C Single submitter pyruvate dehydrogenase E3 deficiency
- c.338-9A>G Single submitter pyruvate dehydrogenase E3 deficiency
- c.39+10G>A Single submitter pyruvate dehydrogenase E3 deficiency
- c.39+10G>C Single submitter pyruvate dehydrogenase E3 deficiency
- c.39+11A>C Single submitter pyruvate dehydrogenase E3 deficiency
- c.39+12G>A Single submitter pyruvate dehydrogenase E3 deficiency
- c.39+14A>G Single submitter pyruvate dehydrogenase E3 deficiency
- c.39+14A>T Single submitter pyruvate dehydrogenase E3 deficiency
- c.39+20G>C Single submitter pyruvate dehydrogenase E3 deficiency
- c.39+7G>A Single submitter pyruvate dehydrogenase E3 deficiency
- c.40-10C>G Single submitter pyruvate dehydrogenase E3 deficiency
- c.40-17A>G Single submitter pyruvate dehydrogenase E3 deficiency
- c.40-18G>A Single submitter pyruvate dehydrogenase E3 deficiency
- c.40-20G>A Single submitter pyruvate dehydrogenase E3 deficiency
- c.40-4del Single submitter pyruvate dehydrogenase E3 deficiency
- c.438+12A>C Single submitter pyruvate dehydrogenase E3 deficiency
- c.438+15T>C Single submitter pyruvate dehydrogenase E3 deficiency
- c.438+15T>G Single submitter pyruvate dehydrogenase E3 deficiency
- c.438+16T>G Single submitter pyruvate dehydrogenase E3 deficiency
- c.438+43A>C Single submitter
- c.438+7G>A Single submitter pyruvate dehydrogenase E3 deficiency
- c.439-4A>G Single submitter pyruvate dehydrogenase E3 deficiency
- c.439-6G>C Single submitter pyruvate dehydrogenase E3 deficiency
- c.439-7_439-6inv Single submitter pyruvate dehydrogenase E3 deficiency
- c.582+11T>G Single submitter pyruvate dehydrogenase E3 deficiency
- c.582+13C>A Single submitter pyruvate dehydrogenase E3 deficiency
- c.582+16_582+17insC Single submitter pyruvate dehydrogenase E3 deficiency
- c.582+16A>G Single submitter pyruvate dehydrogenase E3 deficiency
- c.582+18T>C Single submitter pyruvate dehydrogenase E3 deficiency
- c.582+18T>G Single submitter pyruvate dehydrogenase E3 deficiency
- c.582+19T>G Single submitter pyruvate dehydrogenase E3 deficiency
- c.582+7A>G Single submitter pyruvate dehydrogenase E3 deficiency
- c.582+7A>T Single submitter pyruvate dehydrogenase E3 deficiency
- c.583-15_583-14del Single submitter pyruvate dehydrogenase E3 deficiency
- c.583-3C>T Single submitter pyruvate dehydrogenase E3 deficiency
- c.583-79T>C Single submitter
- c.583-8T>A Single submitter pyruvate dehydrogenase E3 deficiency
- c.684+10G>A Single submitter pyruvate dehydrogenase E3 deficiency
- c.684+11T>A Single submitter pyruvate dehydrogenase E3 deficiency
- c.684+11T>G Single submitter pyruvate dehydrogenase E3 deficiency
- c.684+20C>T Single submitter pyruvate dehydrogenase E3 deficiency
- c.684+9T>A Single submitter pyruvate dehydrogenase E3 deficiency
- c.685-14T>C Single submitter pyruvate dehydrogenase E3 deficiency
- c.685-153A>G Single submitter
- c.685-16_685-14del Single submitter pyruvate dehydrogenase E3 deficiency
- c.685-17_685-14del Single submitter pyruvate dehydrogenase E3 deficiency
- c.685-18T>G Single submitter pyruvate dehydrogenase E3 deficiency
- c.685-19T>C Single submitter pyruvate dehydrogenase E3 deficiency
- c.685-20T>C Single submitter pyruvate dehydrogenase E3 deficiency
- c.685-4G>A Single submitter pyruvate dehydrogenase E3 deficiency
- c.685-4G>T Single submitter pyruvate dehydrogenase E3 deficiency
- c.685-8_685-5del Single submitter pyruvate dehydrogenase E3 deficiency
- c.685-9_685-5del Single submitter pyruvate dehydrogenase E3 deficiency
- c.875+10C>T Single submitter pyruvate dehydrogenase E3 deficiency
- c.875+11A>G Single submitter pyruvate dehydrogenase E3 deficiency
- c.875+124A>G Single submitter
- c.875+13C>A Single submitter pyruvate dehydrogenase E3 deficiency
- c.875+14A>G Single submitter pyruvate dehydrogenase E3 deficiency
- c.875+159C>A Single submitter
- c.875+20T>C Single submitter pyruvate dehydrogenase E3 deficiency
- c.875+226T>G Single submitter
- c.875+9A>G Single submitter pyruvate dehydrogenase E3 deficiency
- c.876-14T>C Single submitter pyruvate dehydrogenase E3 deficiency
- c.876-173G>A Single submitter
- c.876-174C>T Single submitter
- c.876-17C>T Single submitter pyruvate dehydrogenase E3 deficiency
- c.876-19T>C Single submitter pyruvate dehydrogenase E3 deficiency
- c.876-19T>G Single submitter pyruvate dehydrogenase E3 deficiency
- c.876-250T>C Single submitter
- c.876-253G>A Single submitter
- c.876-5T>A Single submitter pyruvate dehydrogenase E3 deficiency
- c.876-6A>C Single submitter pyruvate dehydrogenase E3 deficiency
- c.876-6A>G Single submitter pyruvate dehydrogenase E3 deficiency
- c.876-6A>T Single submitter pyruvate dehydrogenase E3 deficiency
- c.-31G>A Single submitter
- c.-42C>T Single submitter
- c.-7C>G Single submitter
- c.*295del Single submitter
- p.Ala12= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ala139= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ala182= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ala221= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ala241= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ala296= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ala301= Single submitter
- p.Ala358= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ala36= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ala424= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ala425= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ala453= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ala481= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ala56= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ala60= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ala61= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Arg117= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Arg19= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Arg234= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Arg263= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Arg6= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Asn151= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Asn387= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Asn432= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Asp168= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Asp290= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Asp434= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Asp448= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Asp479= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Cys306= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Cys9= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Gln144= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Gln172= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Gln2= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Gln233= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Gln344= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Glu243= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Glu256= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Glu302= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Glu326= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Glu367= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Glu407= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Glu411= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Glu415= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Glu472= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Gly15= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Gly154= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Gly158= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Gly15Asp Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Gly169= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Gly184= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Gly205= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Gly220= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Gly222= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Gly23= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Gly269= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Gly280= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Gly299= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Gly335= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Gly459= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Gly48= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Gly52= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Gly53= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Gly64= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Gly77= Single submitter pyruvate dehydrogenase E3 deficiency
- p.His102= Single submitter pyruvate dehydrogenase E3 deficiency
- p.His149= Single submitter pyruvate dehydrogenase E3 deficiency
- p.His16= Single submitter pyruvate dehydrogenase E3 deficiency
- p.His22= Single submitter pyruvate dehydrogenase E3 deficiency
- p.His247= Single submitter pyruvate dehydrogenase E3 deficiency
- p.His99= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ile195= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ile293= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ile337= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ile371= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ile372= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ile393= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ile441= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Leu141= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Leu180= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Leu209= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Leu24= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Leu245= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Leu32= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Leu63= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Leu76= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Leu91= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Lys210= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Lys211= Single submitter
- p.Lys365= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Lys440= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Lys505= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Phe318= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Phe494= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Phe509= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Pro31= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Pro317= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Pro333= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Pro338= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Pro348= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Pro397= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Pro422= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ser10= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ser114= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ser202= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ser203= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ser28= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ser391= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ser405= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ser446= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ser476= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ser502= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ser95= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Thr129= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Thr157= Single submitter
- p.Thr163= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Thr171= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Thr176= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Thr199= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Thr240= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Thr276= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Thr282= Single submitter
- p.Thr341= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Thr345= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Thr447= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Thr489= Single submitter pyruvate dehydrogenase E3 deficiency
Uncertain significance 178
- c.1236+5G>A Multiple submitters pyruvate dehydrogenase E3 deficiency
- p.Ala295Val Multiple submitters pyruvate dehydrogenase E3 deficiency ⚠
- p.Ala501Val Multiple submitters Inborn genetic diseases ⚠
- p.Asn145Lys Multiple submitters pyruvate dehydrogenase E3 deficiency ⚠
- p.Asn498His Multiple submitters pyruvate dehydrogenase E3 deficiency ⚠
- p.Asp448Gly Multiple submitters pyruvate dehydrogenase E3 deficiency ⚠
- p.Gly154Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gly287Glu Multiple submitters Leigh syndrome ⚠
- p.Ile480Thr Multiple submitters pyruvate dehydrogenase E3 deficiency ⚠
- p.Lys410Gln Multiple submitters Inborn genetic diseases ⚠
- p.Met255Thr Multiple submitters Inborn genetic diseases ⚠
- p.Phe272Leu Multiple submitters pyruvate dehydrogenase E3 deficiency ⚠
- p.Pro458Ala Multiple submitters pyruvate dehydrogenase E3 deficiency ⚠
- p.Ser28Pro Multiple submitters pyruvate dehydrogenase E3 deficiency ⚠
- p.Thr157Ser Multiple submitters Inborn genetic diseases ⚠
- p.Thr171Pro Multiple submitters Inborn genetic diseases ⚠
- p.Thr194Met Multiple submitters pyruvate dehydrogenase E3 deficiency ⚠
- p.Tyr386Cys Multiple submitters Inborn genetic diseases ⚠
- p.Val248Ile Multiple submitters ⚠
- c.118+12A>G Single submitter pyruvate dehydrogenase E3 deficiency
- c.268-3T>A Single submitter pyruvate dehydrogenase E3 deficiency
- c.39+13T>C Single submitter pyruvate dehydrogenase E3 deficiency
- c.39+3G>C Single submitter pyruvate dehydrogenase E3 deficiency
- c.40-3T>A Single submitter pyruvate dehydrogenase E3 deficiency
- c.40-3T>C Single submitter pyruvate dehydrogenase E3 deficiency
- c.439-6G>A Single submitter Inborn genetic diseases
- c.-10C>T Single submitter pyruvate dehydrogenase deficiency
- c.-8G>T Single submitter pyruvate dehydrogenase E3 deficiency
- c.*1027T>G Single submitter pyruvate dehydrogenase E3 deficiency
- c.*1088A>G Single submitter pyruvate dehydrogenase E3 deficiency
- c.*1092C>T Single submitter pyruvate dehydrogenase E3 deficiency
- c.*1145A>T Single submitter pyruvate dehydrogenase deficiency
- c.*1231A>G Single submitter pyruvate dehydrogenase deficiency
- c.*1307C>T Single submitter pyruvate dehydrogenase E3 deficiency
- c.*1401G>T Single submitter Leigh syndrome
- c.*1422C>T Single submitter Leigh syndrome
- c.*1505C>T Single submitter pyruvate dehydrogenase E3 deficiency
- c.*167T>C Single submitter Leigh syndrome
- c.*1724C>G Single submitter pyruvate dehydrogenase deficiency
- c.*1857A>C Single submitter pyruvate dehydrogenase deficiency
- c.*1877A>G Single submitter pyruvate dehydrogenase deficiency
- c.*225C>T Single submitter Leigh syndrome
- c.*355A>G Single submitter pyruvate dehydrogenase deficiency
- c.*374G>T Single submitter pyruvate dehydrogenase deficiency
- c.*394A>G Single submitter pyruvate dehydrogenase deficiency
- c.*498T>G Single submitter pyruvate dehydrogenase E3 deficiency
- c.*739G>A Single submitter Leigh syndrome
- c.*845G>A Single submitter pyruvate dehydrogenase deficiency
- c.*898C>T Single submitter pyruvate dehydrogenase deficiency
- p.Ala107Pro Single submitter ⚠
- p.Ala164Gly Single submitter Inborn genetic diseases ⚠
- p.Ala167Thr Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Ala182Asp Single submitter Inborn genetic diseases ⚠
- p.Ala241Val Single submitter ⚠
- p.Ala301Pro Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Ala301Thr Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Ala363Val Single submitter Inborn genetic diseases ⚠
- p.Ala36Thr Single submitter Inborn genetic diseases ⚠
- p.Ala424Gly Single submitter Inborn genetic diseases ⚠
- p.Ala453Thr Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Arg234Gly Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Arg263Cys Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Arg336Gly Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Asn340Ser Single submitter Inborn genetic diseases ⚠
- p.Asn73His Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Asn93Ser Single submitter Inborn genetic diseases ⚠
- p.Asp121Asn Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Asp196Tyr Single submitter ⚠
- p.Asp286Gly Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Asp307Asn Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Asp355Glu Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Cys9Ser Single submitter Inborn genetic diseases ⚠
- p.Gln126His Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Gln268Arg Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Gln2His Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Glu115Lys Single submitter Inborn genetic diseases ⚠
- p.Glu398Ala Single submitter ⚠
- p.Glu406Asp Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Gly136Ser Single submitter Inborn genetic diseases ⚠
- p.Gly170Ser Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Gly328Ala Single submitter ⚠
- p.Gly437Asp Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Gly64Ala Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.His102Gln Single submitter ⚠
- p.His102Leu Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.His140Arg Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.His22Arg Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.His247Arg Single submitter Inborn genetic diseases ⚠
- p.His364Tyr Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.His383Arg Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Ile174Val Single submitter pyruvate dehydrogenase deficiency ⚠
- p.Ile181Thr Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Ile181Val Single submitter Inborn genetic diseases ⚠
- p.Ile219Asn Single submitter ⚠
- p.Ile219Thr Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Ile257Arg Single submitter Inborn genetic diseases ⚠
- p.Ile289Thr Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Ile384Thr Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Ile47Arg Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Ile480Val Single submitter Inborn genetic diseases ⚠
- p.Ile70Thr Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Leu27Phe Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Leu322Phe Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Leu331Val Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Leu76Phe Single submitter pyruvate dehydrogenase deficiency ⚠
- p.Lys146Thr Single submitter Inborn genetic diseases ⚠
- p.Lys277Asn Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Lys284Met Single submitter ⚠
- p.Lys404Asn Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Met100Ile Single submitter Inborn genetic diseases ⚠
- p.Met123Val Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Met255Ile Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Met377Val Single submitter ⚠
- p.Met438Thr Single submitter Leigh syndrome ⚠
- p.Phe65Tyr Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Pro31Arg Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Pro31Ser Single submitter Inborn genetic diseases ⚠
- p.Pro31Thr Single submitter Inborn genetic diseases ⚠
- p.Pro39= Single submitter pyruvate dehydrogenase deficiency
- p.Pro39Leu Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Pro458Leu Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Pro488= Single submitter pyruvate dehydrogenase E3 deficiency
- p.Ser10Phe Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Ser114Ala Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Ser208Phe Single submitter ⚠
- p.Ser446Leu Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Ser491Leu Single submitter Inborn genetic diseases ⚠
- p.Ser491Pro Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Ser506Leu Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Ser5Gly Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Ser88Phe Single submitter ⚠
- p.Ter510Arg Single submitter pyruvate dehydrogenase E3 deficiency
- p.Thr165Met Single submitter ⚠
- p.Thr183Met Single submitter ⚠
- p.Thr199Lys Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Thr431Ala Single submitter ⚠
- p.Tyr351Cys Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Tyr54Phe Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- p.Tyr8Phe Single submitter Inborn genetic diseases ⚠
- p.Val226Ala Single submitter pyruvate dehydrogenase deficiency ⚠
- p.Val226Ile Single submitter pyruvate dehydrogenase E3 deficiency
- p.Val251Gly Single submitter Inborn genetic diseases ⚠
- p.Val308Ala Single submitter Inborn genetic diseases ⚠
- p.Val30Ala Single submitter Inborn genetic diseases ⚠
- p.Val356Ile Single submitter Inborn genetic diseases ⚠
- p.Val382Met Single submitter Inborn genetic diseases ⚠
- p.Val392Ala Single submitter Inborn genetic diseases ⚠
- p.Val55Ala Single submitter Inborn genetic diseases ⚠
- p.Val55Ile Single submitter pyruvate dehydrogenase E3 deficiency ⚠
- c.118+5G>T No assertion criteria pyruvate dehydrogenase E3 deficiency
- c.338-7A>C No assertion criteria pyruvate dehydrogenase E3 deficiency
- p.Ala29= No assertion criteria pyruvate dehydrogenase E3 deficiency
- p.Ala301Gly No assertion criteria pyruvate dehydrogenase E3 deficiency ⚠
- p.Ala467Thr No assertion criteria pyruvate dehydrogenase E3 deficiency ⚠
- p.Arg336Ser No assertion criteria pyruvate dehydrogenase E3 deficiency ⚠
- p.Asp385Glu No assertion criteria pyruvate dehydrogenase E3 deficiency ⚠
- p.Cys388Trp No assertion criteria pyruvate dehydrogenase E3 deficiency ⚠
- p.Gln25Ter No assertion criteria DLD-related disorder
- p.Gly249Asp No assertion criteria pyruvate dehydrogenase E3 deficiency ⚠
- p.Gly335Asp No assertion criteria pyruvate dehydrogenase E3 deficiency ⚠
- p.Gly474Arg No assertion criteria pyruvate dehydrogenase E3 deficiency ⚠
- p.Ile200Met No assertion criteria pyruvate dehydrogenase E3 deficiency ⚠
- p.Ile289Ser No assertion criteria pyruvate dehydrogenase E3 deficiency ⚠
- p.Ile384Met No assertion criteria pyruvate dehydrogenase E3 deficiency ⚠
- p.Ile86Val No assertion criteria pyruvate dehydrogenase E3 deficiency ⚠
- p.Leu490Ser No assertion criteria pyruvate dehydrogenase E3 deficiency ⚠
- p.Lys127Glu No assertion criteria pyruvate dehydrogenase E3 deficiency ⚠
- p.Lys445Glu No assertion criteria pyruvate dehydrogenase E3 deficiency ⚠
- p.Met463Lys No assertion criteria pyruvate dehydrogenase E3 deficiency ⚠
- p.Phe106Ile No assertion criteria ⚠
- p.Pro360= No assertion criteria pyruvate dehydrogenase E3 deficiency
- p.Pro51= No assertion criteria pyruvate dehydrogenase E3 deficiency
- p.Ser3Cys No assertion criteria pyruvate dehydrogenase E3 deficiency ⚠
- p.Ser405Pro No assertion criteria pyruvate dehydrogenase E3 deficiency ⚠
- p.Thr276Ile No assertion criteria pyruvate dehydrogenase E3 deficiency ⚠
- p.Thr305Ile No assertion criteria pyruvate dehydrogenase E3 deficiency ⚠
- p.Val374Ile No assertion criteria pyruvate dehydrogenase E3 deficiency ⚠
- p.Val46= No assertion criteria pyruvate dehydrogenase E3 deficiency