PDHX — 379 ClinVar variants
All ClinVar germline PDHX variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 143 flagged for review →
15 Pathogenic · 6 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 20 Conflicting · 55 Benign · 11 Benign/Likely benign · 94 Likely benign · 166 Uncertain significance
Full PDHX gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 143
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 8
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
PDHX p.Arg499Gln
Conflicting
Single submitter
Inborn genetic diseases
-
PDHX p.Asn270Ser
Conflicting
Single submitter
Inborn genetic diseases
-
PDHX p.Gln248Glu
Conflicting
Single submitter
pyruvate dehydrogenase E3-binding protein deficiency
-
PDHX p.Glu214Gln
Conflicting
Single submitter
Inborn genetic diseases
-
PDHX p.Lys488Glu
Conflicting
Single submitter
Inborn genetic diseases
- PDHX p.Ser245Leu Conflicting Single submitter
-
PDHX p.Thr225Met
Conflicting
Single submitter
pyruvate dehydrogenase E3-binding protein deficiency
-
PDHX p.Thr250Ile
Conflicting
Single submitter
pyruvate dehydrogenase E3-binding protein deficiency
Predictors lean, ClinVar uncertain 105
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
PDHX p.Ala280Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PDHX p.Ala366Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PDHX p.Ala83Val Uncertain significance Multiple submitters
- PDHX p.Arg123Gln Uncertain significance Multiple submitters
-
PDHX p.Arg181Gln
Uncertain significance
Multiple submitters
pyruvate dehydrogenase E3-binding protein deficiency
-
PDHX p.Arg183His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PDHX p.Arg208Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PDHX p.Arg208Trp
Uncertain significance
Multiple submitters
pyruvate dehydrogenase E3-binding protein deficiency
-
PDHX p.Asn347Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PDHX p.Asp345Val
Uncertain significance
Multiple submitters
pyruvate dehydrogenase E3-binding protein deficiency
-
PDHX p.Asp351Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PDHX p.Glu174Lys
Uncertain significance
Multiple submitters
pyruvate dehydrogenase E3-binding protein deficiency
-
PDHX p.Glu193Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PDHX p.Glu230Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PDHX p.Glu353Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PDHX p.His195Tyr Uncertain significance Multiple submitters
-
PDHX p.Ile176Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PDHX p.Ile324Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PDHX p.Leu340His
Uncertain significance
Multiple submitters
pyruvate dehydrogenase E3-binding protein deficiency
-
PDHX p.Lys295Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PDHX p.Pro237Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PDHX p.Pro253Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PDHX p.Pro256Ser
Uncertain significance
Multiple submitters
mitochondrial disease
- PDHX p.Pro359Ser Uncertain significance Multiple submitters
-
PDHX p.Thr234Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PDHX p.Thr265Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PDHX p.Thr429Ser Uncertain significance Multiple submitters
-
PDHX p.Trp350Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PDHX p.Val171Ile
Uncertain significance
Multiple submitters
pyruvate dehydrogenase E3-binding protein deficiency
-
PDHX p.Val259Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PDHX p.Val84Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PDHX p.Val99Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PDHX p.Ala104Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDHX p.Ala251Val
Uncertain significance
Single submitter
Inborn genetic diseases
- PDHX p.Ala305Pro Uncertain significance Single submitter
-
PDHX p.Ala336Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDHX p.Ala382Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDHX p.Ala382Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDHX p.Ala441Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDHX p.Arg160His
Uncertain significance
Single submitter
pyruvate dehydrogenase E3-binding protein deficiency
-
PDHX p.Arg208Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDHX p.Arg232Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDHX p.Arg257Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDHX p.Arg285Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDHX p.Arg290Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDHX p.Arg446Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDHX p.Arg464Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- PDHX p.Asn190Ser Uncertain significance Single submitter
- PDHX p.Asp215Gly Uncertain significance Single submitter
-
PDHX p.Asp391His
Uncertain significance
Single submitter
Inborn genetic diseases
- PDHX p.Asp426Asn Uncertain significance Single submitter
- PDHX p.Cys307Arg Uncertain significance Single submitter
-
PDHX p.Gln166His
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDHX p.Gln357Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- PDHX p.Glu158Asp Uncertain significance Single submitter
- PDHX p.Glu353Gln Uncertain significance Single submitter
-
PDHX p.Glu427Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- PDHX p.Glu481Lys Uncertain significance Single submitter
- PDHX p.Gly108Glu Uncertain significance Single submitter
- PDHX p.Gly125Val Uncertain significance Single submitter
- PDHX p.Gly267Ala Uncertain significance Single submitter
-
PDHX p.Gly267Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- PDHX p.Gly421Trp Uncertain significance Single submitter
- PDHX p.Gly81Asp Uncertain significance Single submitter
-
PDHX p.His195Gln
Uncertain significance
Single submitter
pyruvate dehydrogenase E3-binding protein deficiency
-
PDHX p.Ile109Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- PDHX p.Ile169Met Uncertain significance Single submitter
-
PDHX p.Ile228Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- PDHX p.Ile333Val Uncertain significance Single submitter
- PDHX p.Ile363Met Uncertain significance Single submitter
- PDHX p.Ile93Thr Uncertain significance Single submitter
-
PDHX p.Leu309Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDHX p.Leu451Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- PDHX p.Leu451Val Uncertain significance Single submitter
- PDHX p.Leu461Pro Uncertain significance Single submitter
- PDHX p.Leu64Arg Uncertain significance Single submitter
- PDHX p.Lys120Arg Uncertain significance Single submitter
- PDHX p.Lys145Arg Uncertain significance Single submitter
- PDHX p.Lys145Thr Uncertain significance Single submitter
- PDHX p.Lys173Arg Uncertain significance Single submitter
- PDHX p.Lys218Arg Uncertain significance Single submitter
-
PDHX p.Lys295Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDHX p.Lys314Glu
Uncertain significance
Single submitter
pyruvate dehydrogenase E3-binding protein deficiency
- PDHX p.Lys460Arg Uncertain significance Single submitter
-
PDHX p.Lys460Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDHX p.Met61Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDHX p.Pro149Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- PDHX p.Pro150Leu Uncertain significance Single submitter
-
PDHX p.Pro177Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- PDHX p.Pro256Leu Uncertain significance Single submitter
- PDHX p.Pro376Ser Uncertain significance Single submitter
- PDHX p.Pro56Ala Uncertain significance Single submitter
- PDHX p.Ser231Thr Uncertain significance Single submitter
- PDHX p.Ser296Gly Uncertain significance Single submitter
- PDHX p.Ser349Asn Uncertain significance Single submitter
-
PDHX p.Ser473Thr
Uncertain significance
Single submitter
pyruvate dehydrogenase E3-binding protein deficiency
- PDHX p.Thr179Ala Uncertain significance Single submitter
- PDHX p.Thr242Ala Uncertain significance Single submitter
-
PDHX p.Thr265Ala
Uncertain significance
Single submitter
pyruvate dehydrogenase E3-binding protein deficiency
-
PDHX p.Thr274Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- PDHX p.Thr429Ala Uncertain significance Single submitter
-
PDHX p.Thr484Ala
Uncertain significance
Single submitter
pyruvate dehydrogenase E3-binding protein deficiency
-
PDHX p.Val272Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- PDHX p.Val286Ile Uncertain significance Single submitter
- PDHX p.Val442Phe Uncertain significance Single submitter
Predictors split 30
The independent predictors disagree with each other — read with care.
-
PDHX p.Ala236Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PDHX p.Arg123Trp Uncertain significance Multiple submitters
- PDHX p.Arg189Cys Uncertain significance Multiple submitters
- PDHX p.Arg189His Benign Multiple submitters
-
PDHX p.Arg284Gln
Uncertain significance
Multiple submitters
pyruvate dehydrogenase E3-binding protein deficiency
-
PDHX p.Asn282Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PDHX p.Asp106Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PDHX p.Asp107Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PDHX p.Gly354Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PDHX p.Ile122Met Uncertain significance Multiple submitters
-
PDHX p.Ile377Val
Uncertain significance
Multiple submitters
pyruvate dehydrogenase E3-binding protein deficiency
-
PDHX p.Lys58Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PDHX p.Ala336Gly Uncertain significance Single submitter
-
PDHX p.Ala98Val
Uncertain significance
Single submitter
pyruvate dehydrogenase E3-binding protein deficiency
-
PDHX p.Arg181Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDHX p.Arg464His
Conflicting
Single submitter
Inborn genetic diseases
- PDHX p.Arg464Leu Uncertain significance Single submitter
- PDHX p.Asn419Ser Conflicting Single submitter
-
PDHX p.Asp306Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- PDHX p.Asp370Asn Uncertain significance Single submitter
-
PDHX p.Asp402Tyr
Uncertain significance
Single submitter
pyruvate dehydrogenase E3-binding protein deficiency
- PDHX p.Asp479Gly Uncertain significance Single submitter
-
PDHX p.Leu197Met
Conflicting
Single submitter
pyruvate dehydrogenase E3-binding protein deficiency
-
PDHX p.Leu461Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDHX p.Lys325Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- PDHX p.Pro434Ala Uncertain significance Single submitter
-
PDHX p.Ser281Gly
Uncertain significance
Single submitter
pyruvate dehydrogenase E3-binding protein deficiency
-
PDHX p.Tyr302Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- PDHX p.Val365Met Uncertain significance Single submitter
-
PDHX p.Val477Leu
Uncertain significance
Single submitter
Inborn genetic diseases
All PDHX variants
Pathogenic 15
- p.Arg284Ter Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency
- p.Gln248Ter Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency
- c.1182+2T>C Single submitter pyruvate dehydrogenase E3-binding protein deficiency
- c.965-1G>A Single submitter
- p.Ala83_Val84insTer Single submitter
- p.Cys307_Asp308delinsTer Single submitter
- p.Cys438fs Single submitter
- p.Gly148fs Single submitter
- p.Gly71Ter Single submitter
- p.Pro376fs Single submitter pyruvate dehydrogenase E3-binding protein deficiency
- c.1024-1G>A No assertion criteria pyruvate dehydrogenase E3-binding protein deficiency
- c.1183-3088_1247+760del No assertion criteria pyruvate dehydrogenase E3-binding protein deficiency
- c.641+1G>A No assertion criteria pyruvate dehydrogenase E3-binding protein deficiency
- p.Asp322fs No assertion criteria pyruvate dehydrogenase E3-binding protein deficiency
- p.Pro207fs No assertion criteria pyruvate dehydrogenase E3-binding protein deficiency
Pathogenic/Likely pathogenic 6
- p.Arg446Ter Multiple submitters PDHX-related disorders
- p.Gln411Ter Multiple submitters PDHX-related disorders
- p.His140fs Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency
- p.Pro186fs Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency
- p.Thr238fs Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency
- p.Thr265fs Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency
Likely pathogenic 12
- p.Arg476Ter Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency
- c.161-2A>G Single submitter
- c.542+1G>C Single submitter
- c.816+1G>A Single submitter
- p.Gln436fs Single submitter Inborn genetic diseases
- p.Ser264Ter Single submitter pyruvate dehydrogenase E3-binding protein deficiency
- p.Ser63Ter Single submitter pyruvate dehydrogenase E3-binding protein deficiency
- p.Val220fs Single submitter pyruvate dehydrogenase E3-binding protein deficiency
- p.Val298fs Single submitter mitochondrial disease
- p.Val338fs Single submitter pyruvate dehydrogenase E3-binding protein deficiency
- p.Val431Ala Single submitter pyruvate dehydrogenase E3-binding protein deficiency
- c.-48del No assertion criteria pyruvate dehydrogenase E1-alpha deficiency
Conflicting classifications of pathogenicity 20
- c.161-6T>C Single submitter pyruvate dehydrogenase E3-binding protein deficiency
- c.242-4G>A Single submitter pyruvate dehydrogenase E3-binding protein deficiency
- c.343-7A>C Single submitter
- c.542+10T>C Single submitter pyruvate dehydrogenase E3-binding protein deficiency
- p.Arg464His Single submitter Inborn genetic diseases ⚠
- p.Arg499Gln Single submitter Inborn genetic diseases ⚠
- p.Asn270Ser Single submitter Inborn genetic diseases ⚠
- p.Asn419Ser Single submitter ⚠
- p.Gln248Glu Single submitter pyruvate dehydrogenase E3-binding protein deficiency ⚠
- p.Glu134= Single submitter pyruvate dehydrogenase E3-binding protein deficiency
- p.Glu193= Single submitter pyruvate dehydrogenase E3-binding protein deficiency
- p.Glu214Gln Single submitter Inborn genetic diseases ⚠
- p.Gly273fs Single submitter pyruvate dehydrogenase E3-binding protein deficiency
- p.Gly413= Single submitter
- p.Leu197Met Single submitter pyruvate dehydrogenase E3-binding protein deficiency ⚠
- p.Lys488Glu Single submitter Inborn genetic diseases ⚠
- p.Ser245Leu Single submitter ⚠
- p.Thr225Met Single submitter pyruvate dehydrogenase E3-binding protein deficiency ⚠
- p.Thr234= Single submitter pyruvate dehydrogenase E3-binding protein deficiency
- p.Thr250Ile Single submitter pyruvate dehydrogenase E3-binding protein deficiency ⚠
Benign 55
- c.1023+132G>A Multiple submitters
- c.1023+16C>G Multiple submitters
- c.1023+18A>G Multiple submitters
- c.1024-53C>T Multiple submitters
- c.1182+190A>T Multiple submitters
- c.1182+245A>G Multiple submitters
- c.160+189A>G Multiple submitters
- c.241+24C>A Multiple submitters
- c.241+3G>A Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency
- c.241+57G>T Multiple submitters
- c.343-39G>A Multiple submitters
- c.641+4T>C Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency
- c.641+76G>A Multiple submitters
- c.641+81T>G Multiple submitters
- c.641+83C>A Multiple submitters
- c.965-187G>T Multiple submitters
- c.-124G>C Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency
- c.-129C>T Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency
- c.-202A>G Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency
- c.-272G>A Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency
- c.-302A>G Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency
- c.-319G>A Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency
- c.-390G>A Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency
- c.-505G>A Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency
- c.-506T>C Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency
- c.-717G>C Multiple submitters
- c.-787G>A Multiple submitters
- c.-840C>T Multiple submitters
- c.-88C>A Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency
- c.*123A>G Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency
- c.*173G>A Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency
- c.*200T>C Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency
- c.*486G>T Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency
- c.*644C>A Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency
- c.*890T>C Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency
- p.Arg189His Multiple submitters ⚠
- p.Asp146= Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency
- p.Ile113= Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency
- p.Ile169= Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency
- p.Leu319= Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency
- p.Leu396= Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency
- p.Pro177= Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency
- p.Pro266= Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency
- p.Thr101Ala Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency
- p.Val286= Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency
- c.1024-215A>T Single submitter
- c.161-10del Single submitter
- c.241+56dup Single submitter
- c.241+68dup Single submitter
- c.342+119dup Single submitter
- c.542+157del Single submitter
- c.542+192C>T Single submitter
- c.641+168A>G Single submitter
- c.965-319A>T Single submitter
- c.-131_-129delGGC Single submitter
Benign/Likely benign 11
- c.161-10dup Multiple submitters
- c.343-15_343-13del Multiple submitters
- c.642-19A>G Multiple submitters
- c.*27A>C Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency
- p.Ala501= Multiple submitters
- p.Ala83= Multiple submitters
- p.Arg444Lys Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency
- p.Glu158= Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency
- p.Gly206= Multiple submitters
- p.Phe445Val Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency
- p.Val326Leu Multiple submitters pyruvate dehydrogenase E1-alpha deficiency
Likely benign 94
- c.1182+16G>C Multiple submitters
- c.1247+210G>A Multiple submitters
- c.1248-15T>C Multiple submitters
- c.241+15T>A Multiple submitters
- c.242-17C>T Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency
- c.543-19C>T Multiple submitters
- c.817-43A>G Multiple submitters
- c.*114A>G Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency
- p.Asp137= Multiple submitters
- p.Gln411= Multiple submitters
- p.Gly178Arg Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency
- p.Met422Ile Multiple submitters
- p.Thr225= Multiple submitters
- p.Val263= Multiple submitters
- c.1024-38C>T Single submitter
- c.1024-7T>C Single submitter
- c.1024-8A>G Single submitter
- c.1024-9T>G Single submitter
- c.1182+13A>G Single submitter
- c.1182+21_1182+22del Single submitter
- c.1182+7C>G Single submitter
- c.1182+8T>G Single submitter
- c.1183-297A>G Single submitter
- c.1247+15C>G Single submitter
- c.1248-4C>G Single submitter
- c.1248-76A>G Single submitter
- c.161-15T>G Single submitter
- c.161-280dup Single submitter
- c.241+173G>A Single submitter
- c.241+55_241+56dup Single submitter
- c.241+59_241+60insG Single submitter
- c.241+8G>A Single submitter
- c.241+9G>A Single submitter
- c.242-11T>G Single submitter
- c.242-14G>A Single submitter
- c.242-9G>A Single submitter
- c.342+16A>G Single submitter
- c.342+9T>G Single submitter
- c.343-11T>G Single submitter
- c.343-49G>A Single submitter
- c.343-5T>C Single submitter
- c.542+97A>G Single submitter
- c.543-6T>C Single submitter
- c.641+33A>G Single submitter
- c.642-283_642-281dup Single submitter
- c.642-8A>G Single submitter
- c.642-8A>T Single submitter
- c.816+15G>A Single submitter
- c.817-4G>T Single submitter
- c.817-9T>C Single submitter
- c.964+11T>C Single submitter
- c.965-17C>T Single submitter
- c.-342A>G Single submitter pyruvate dehydrogenase E3-binding protein deficiency
- c.-519C>A Single submitter pyruvate dehydrogenase E3-binding protein deficiency
- c.*904G>T Single submitter pyruvate dehydrogenase E3-binding protein deficiency
- p.Ala216= Single submitter
- p.Ala311= Single submitter
- p.Ala441= Single submitter
- p.Arg160= Single submitter
- p.Arg181= Single submitter Inborn genetic diseases
- p.Arg257= Single submitter
- p.Arg485= Single submitter
- p.Asn347= Single submitter
- p.Asp103= Single submitter
- p.Asp426= Single submitter
- p.Asp480= Single submitter
- p.Gln248= Single submitter
- p.Gln317= Single submitter
- p.Glu214= Single submitter Inborn genetic diseases
- p.Glu293= Single submitter
- p.Gly421= Single submitter
- p.Ile131Leu Single submitter Inborn genetic diseases
- p.Ile167= Single submitter
- p.Leu247= Single submitter
- p.Leu373= Single submitter
- p.Leu406= Single submitter
- p.Leu420= Single submitter
- p.Leu482= Single submitter
- p.Lys398= Single submitter
- p.Lys75= Single submitter
- p.Phe445= Single submitter
- p.Pro233= Single submitter
- p.Pro246= Single submitter
- p.Pro279= Single submitter
- p.Pro344= Single submitter
- p.Pro359= Single submitter
- p.Pro62= Single submitter
- p.Ser154= Single submitter
- p.Ser349= Single submitter
- p.Thr179= Single submitter
- p.Thr205= Single submitter
- p.Thr276= Single submitter
- p.Thr95= Single submitter
- p.Tyr255= Single submitter
Uncertain significance 166
- c.1023+2267A>G Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency
- p.Ala236Asp Multiple submitters Inborn genetic diseases ⚠
- p.Ala280Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala366Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala430Thr Multiple submitters Inborn genetic diseases
- p.Ala83Val Multiple submitters ⚠
- p.Arg123Gln Multiple submitters ⚠
- p.Arg123Trp Multiple submitters ⚠
- p.Arg181Gln Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency ⚠
- p.Arg183His Multiple submitters Inborn genetic diseases ⚠
- p.Arg189Cys Multiple submitters ⚠
- p.Arg208Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg208Trp Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency ⚠
- p.Arg284Gln Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency ⚠
- p.Asn282Asp Multiple submitters Inborn genetic diseases ⚠
- p.Asn347Ile Multiple submitters Inborn genetic diseases ⚠
- p.Asp106Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asp107Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp345Val Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency ⚠
- p.Asp351Gly Multiple submitters Inborn genetic diseases ⚠
- p.Glu174Lys Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency ⚠
- p.Glu193Gln Multiple submitters Inborn genetic diseases ⚠
- p.Glu230Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu353Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly354Asp Multiple submitters Inborn genetic diseases ⚠
- p.His195Tyr Multiple submitters ⚠
- p.Ile122Met Multiple submitters ⚠
- p.Ile176Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile324Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile377Val Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency ⚠
- p.Leu130Trp Multiple submitters Inborn genetic diseases
- p.Leu340His Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency ⚠
- p.Lys295Thr Multiple submitters Inborn genetic diseases ⚠
- p.Lys58Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro237Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro253Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro256Ser Multiple submitters mitochondrial disease ⚠
- p.Pro359Ser Multiple submitters ⚠
- p.Thr234Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr265Ser Multiple submitters Inborn genetic diseases ⚠
- p.Thr429Ser Multiple submitters ⚠
- p.Trp350Arg Multiple submitters Inborn genetic diseases ⚠
- p.Val171Ile Multiple submitters pyruvate dehydrogenase E3-binding protein deficiency ⚠
- p.Val259Glu Multiple submitters Inborn genetic diseases ⚠
- p.Val84Met Multiple submitters Inborn genetic diseases ⚠
- p.Val99Leu Multiple submitters Inborn genetic diseases ⚠
- c.1182+4T>A Single submitter Inborn genetic diseases
- c.542+5del Single submitter
- c.641+3A>G Single submitter
- c.817-3C>T Single submitter Inborn genetic diseases
- c.-155G>A Single submitter pyruvate dehydrogenase E3-binding protein deficiency
- c.-162C>A Single submitter pyruvate dehydrogenase E3-binding protein deficiency
- c.-178T>C Single submitter
- c.-195_-180dup16 Single submitter
- c.-354C>T Single submitter pyruvate dehydrogenase E3-binding protein deficiency
- c.-358G>A Single submitter pyruvate dehydrogenase E3-binding protein deficiency
- c.-371G>A Single submitter pyruvate dehydrogenase E3-binding protein deficiency
- c.-485G>C Single submitter pyruvate dehydrogenase E3-binding protein deficiency
- c.*259G>T Single submitter pyruvate dehydrogenase E3-binding protein deficiency
- c.*331G>C Single submitter pyruvate dehydrogenase E3-binding protein deficiency
- c.*650G>A Single submitter pyruvate dehydrogenase E3-binding protein deficiency
- c.*662A>T Single submitter pyruvate dehydrogenase E3-binding protein deficiency
- c.*742C>T Single submitter pyruvate dehydrogenase E3-binding protein deficiency
- c.*743G>A Single submitter pyruvate dehydrogenase E3-binding protein deficiency
- c.*763G>A Single submitter pyruvate dehydrogenase E3-binding protein deficiency
- c.*783G>T Single submitter pyruvate dehydrogenase E3-binding protein deficiency
- c.*821A>T Single submitter pyruvate dehydrogenase E3-binding protein deficiency
- c.*874A>G Single submitter pyruvate dehydrogenase E3-binding protein deficiency
- p.Ala104Thr Single submitter Inborn genetic diseases ⚠
- p.Ala251Val Single submitter Inborn genetic diseases ⚠
- p.Ala305Pro Single submitter ⚠
- p.Ala336Gly Single submitter ⚠
- p.Ala336Val Single submitter Inborn genetic diseases ⚠
- p.Ala382Pro Single submitter Inborn genetic diseases ⚠
- p.Ala382Val Single submitter Inborn genetic diseases ⚠
- p.Ala441Val Single submitter Inborn genetic diseases ⚠
- p.Ala98Val Single submitter pyruvate dehydrogenase E3-binding protein deficiency ⚠
- p.Arg160His Single submitter pyruvate dehydrogenase E3-binding protein deficiency ⚠
- p.Arg181Trp Single submitter Inborn genetic diseases ⚠
- p.Arg208Pro Single submitter Inborn genetic diseases ⚠
- p.Arg232Ser Single submitter Inborn genetic diseases ⚠
- p.Arg257Gln Single submitter Inborn genetic diseases ⚠
- p.Arg285Lys Single submitter Inborn genetic diseases ⚠
- p.Arg290Ser Single submitter Inborn genetic diseases ⚠
- p.Arg446Gln Single submitter Inborn genetic diseases ⚠
- p.Arg464Leu Single submitter ⚠
- p.Arg464Ser Single submitter Inborn genetic diseases ⚠
- p.Arg499Ter Single submitter
- p.Asn190Ser Single submitter ⚠
- p.Asn458fs Single submitter
- p.Asp107Val Single submitter
- p.Asp215Gly Single submitter ⚠
- p.Asp306Gly Single submitter Inborn genetic diseases ⚠
- p.Asp370Asn Single submitter ⚠
- p.Asp391His Single submitter Inborn genetic diseases ⚠
- p.Asp402Tyr Single submitter pyruvate dehydrogenase E3-binding protein deficiency ⚠
- p.Asp426Asn Single submitter ⚠
- p.Asp479Gly Single submitter ⚠
- p.Cys307Arg Single submitter ⚠
- p.Gln166His Single submitter Inborn genetic diseases ⚠
- p.Gln357Arg Single submitter Inborn genetic diseases ⚠
- p.Glu158Asp Single submitter ⚠
- p.Glu353Gln Single submitter ⚠
- p.Glu388= Single submitter pyruvate dehydrogenase E3-binding protein deficiency
- p.Glu427Lys Single submitter Inborn genetic diseases ⚠
- p.Glu481Lys Single submitter ⚠
- p.Glu82Val Single submitter Inborn genetic diseases
- p.Gly108Glu Single submitter ⚠
- p.Gly125Val Single submitter ⚠
- p.Gly267Ala Single submitter ⚠
- p.Gly267Arg Single submitter Inborn genetic diseases ⚠
- p.Gly421Trp Single submitter ⚠
- p.Gly81Asp Single submitter ⚠
- p.His195Gln Single submitter pyruvate dehydrogenase E3-binding protein deficiency ⚠
- p.Ile109Thr Single submitter Inborn genetic diseases ⚠
- p.Ile169Met Single submitter ⚠
- p.Ile228Phe Single submitter Inborn genetic diseases ⚠
- p.Ile333Val Single submitter ⚠
- p.Ile363Met Single submitter ⚠
- p.Ile93Thr Single submitter ⚠
- p.Leu309Pro Single submitter Inborn genetic diseases ⚠
- p.Leu451Ile Single submitter Inborn genetic diseases ⚠
- p.Leu451Val Single submitter ⚠
- p.Leu461Arg Single submitter Inborn genetic diseases ⚠
- p.Leu461Pro Single submitter ⚠
- p.Leu64Arg Single submitter ⚠
- p.Lys120Arg Single submitter ⚠
- p.Lys145Arg Single submitter ⚠
- p.Lys145Thr Single submitter ⚠
- p.Lys173Arg Single submitter ⚠
- p.Lys218Arg Single submitter ⚠
- p.Lys295Glu Single submitter Inborn genetic diseases ⚠
- p.Lys314Glu Single submitter pyruvate dehydrogenase E3-binding protein deficiency ⚠
- p.Lys325Thr Single submitter Inborn genetic diseases ⚠
- p.Lys460Arg Single submitter ⚠
- p.Lys460Glu Single submitter Inborn genetic diseases ⚠
- p.Met61Ile Single submitter Inborn genetic diseases ⚠
- p.Met68Val Single submitter Inborn genetic diseases
- p.Pro149Leu Single submitter Inborn genetic diseases ⚠
- p.Pro150Leu Single submitter ⚠
- p.Pro177Leu Single submitter Inborn genetic diseases ⚠
- p.Pro256Leu Single submitter ⚠
- p.Pro262= Single submitter
- p.Pro376Ser Single submitter ⚠
- p.Pro434Ala Single submitter ⚠
- p.Pro56Ala Single submitter ⚠
- p.Ser231Thr Single submitter ⚠
- p.Ser281Gly Single submitter pyruvate dehydrogenase E3-binding protein deficiency ⚠
- p.Ser296Gly Single submitter ⚠
- p.Ser349Asn Single submitter ⚠
- p.Ser473Thr Single submitter pyruvate dehydrogenase E3-binding protein deficiency ⚠
- p.Thr179Ala Single submitter ⚠
- p.Thr242Ala Single submitter ⚠
- p.Thr265Ala Single submitter pyruvate dehydrogenase E3-binding protein deficiency ⚠
- p.Thr274Ala Single submitter Inborn genetic diseases ⚠
- p.Thr429Ala Single submitter ⚠
- p.Thr484Ala Single submitter pyruvate dehydrogenase E3-binding protein deficiency ⚠
- p.Thr67Ala Single submitter
- p.Tyr302Cys Single submitter Inborn genetic diseases ⚠
- p.Val272Leu Single submitter Inborn genetic diseases ⚠
- p.Val286Ile Single submitter ⚠
- p.Val365Met Single submitter ⚠
- p.Val442Phe Single submitter ⚠
- p.Val477Leu Single submitter Inborn genetic diseases ⚠
- p.Val478Leu Single submitter
- p.Val100_Thr101insIle No assertion criteria