Sugi Variant

Sugi Variant/HADHB

HADHB — 604 ClinVar variants

All ClinVar germline HADHB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 157 flagged for review →

36 Pathogenic · 20 Pathogenic/Likely pathogenic · 44 Likely pathogenic · 22 Conflicting · 34 Benign · 5 Benign/Likely benign · 279 Likely benign · 164 Uncertain significance

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

⚑ Evidence disagreements 157

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.

Predictors agree, ClinVar conflicts 14

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

Predictors lean, ClinVar uncertain 97

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

Predictors split 45

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

All HADHB variants

Pathogenic 36

  • c.209+1G>C Multiple submitters mitochondrial trifunctional protein deficiency
  • p.Ala392Val Multiple submitters mitochondrial trifunctional protein deficiency
  • p.Arg229Ter Multiple submitters mitochondrial trifunctional protein deficiency 2
  • p.Arg247Cys Multiple submitters mitochondrial trifunctional protein deficiency
  • p.Arg33Ter Multiple submitters mitochondrial trifunctional protein deficiency 2
  • p.Gly354fs Multiple submitters mitochondrial trifunctional protein deficiency 2
  • p.Gly404_Arg405insTer Multiple submitters mitochondrial trifunctional protein deficiency
  • p.His379fs Multiple submitters mitochondrial trifunctional protein deficiency 1
  • p.Met1Val Multiple submitters mitochondrial trifunctional protein deficiency
  • p.Ser70Ter Multiple submitters mitochondrial trifunctional protein deficiency
  • p.Val455Gly Multiple submitters mitochondrial trifunctional protein deficiency 2
  • c.255-1G>A Single submitter mitochondrial trifunctional protein deficiency
  • c.442+663A>G Single submitter mitochondrial trifunctional protein deficiency
  • c.630+2_630+6del Single submitter mitochondrial trifunctional protein deficiency
  • c.812-2A>G Single submitter mitochondrial trifunctional protein deficiency
  • p.Ala153fs Single submitter mitochondrial trifunctional protein deficiency
  • p.Ala213Ter Single submitter mitochondrial trifunctional protein deficiency
  • p.Ala232fs Single submitter mitochondrial trifunctional protein deficiency
  • p.Ala295fs Single submitter mitochondrial trifunctional protein deficiency
  • p.Cys138fs Single submitter mitochondrial trifunctional protein deficiency
  • p.Glu216Ter Single submitter mitochondrial trifunctional protein deficiency
  • p.Gly330fs Single submitter mitochondrial trifunctional protein deficiency
  • p.Gly427Ter Single submitter mitochondrial trifunctional protein deficiency
  • p.His249fs Single submitter mitochondrial trifunctional protein deficiency
  • p.Lys190Ter Single submitter mitochondrial trifunctional protein deficiency
  • p.Met1delinsIleThr Single submitter mitochondrial trifunctional protein deficiency
  • p.Met393fs Single submitter mitochondrial trifunctional protein deficiency
  • p.Phe206delinsLeuTer Single submitter mitochondrial trifunctional protein deficiency
  • p.Ser140fs Single submitter mitochondrial trifunctional protein deficiency
  • p.Ser197Ter Single submitter mitochondrial trifunctional protein deficiency
  • p.Trp17Ter Single submitter mitochondrial trifunctional protein deficiency
  • p.Tyr402Ter Single submitter mitochondrial trifunctional protein deficiency
  • p.Ala120fs No assertion criteria mitochondrial trifunctional protein deficiency 2
  • p.Arg444Lys No assertion criteria mitochondrial trifunctional protein deficiency 2 ⚠
  • p.Asp263Gly No assertion criteria mitochondrial trifunctional protein deficiency 2 ⚠
  • p.Leu260fs No assertion criteria mitochondrial trifunctional protein deficiency 2

Pathogenic/Likely pathogenic 20

  • c.1389+5G>A Multiple submitters mitochondrial trifunctional protein deficiency 1
  • c.1390-515_1390-499del Multiple submitters mitochondrial trifunctional protein deficiency 2
  • c.210-1G>T Multiple submitters mitochondrial trifunctional protein deficiency 1
  • c.254+1G>A Multiple submitters mitochondrial trifunctional protein deficiency 1
  • c.255-2A>G Multiple submitters mitochondrial trifunctional protein deficiency
  • c.631-1G>A Multiple submitters mitochondrial trifunctional protein deficiency 2
  • c.811+82A>G Multiple submitters HADHB-related disorders
  • p.Ala233fs Multiple submitters mitochondrial trifunctional protein deficiency 1
  • p.Arg195Ter Multiple submitters mitochondrial trifunctional protein deficiency 2
  • p.Arg203Ter Multiple submitters mitochondrial trifunctional protein deficiency 1
  • p.Arg247His Multiple submitters HADHB-related disorders ⚠
  • p.Arg61Cys Multiple submitters mitochondrial trifunctional protein deficiency 1
  • p.Arg61His Multiple submitters mitochondrial trifunctional protein deficiency 2
  • p.Asn114Asp Multiple submitters mitochondrial trifunctional protein deficiency 1
  • p.Asn371fs Multiple submitters mitochondrial trifunctional protein deficiency
  • p.Asn389Asp Multiple submitters mitochondrial trifunctional protein deficiency 1
  • p.Met321fs Multiple submitters mitochondrial trifunctional protein deficiency
  • p.Phe430Ser Multiple submitters mitochondrial trifunctional protein deficiency 2
  • p.Pro294Arg Multiple submitters HADHA-related disorder
  • p.Thr69fs Multiple submitters mitochondrial trifunctional protein deficiency

Likely pathogenic 44

  • c.1149+2T>C Multiple submitters mitochondrial trifunctional protein deficiency
  • c.1150-1G>T Multiple submitters mitochondrial trifunctional protein deficiency
  • c.354+2T>C Multiple submitters mitochondrial trifunctional protein deficiency
  • c.631-2A>C Multiple submitters mitochondrial trifunctional protein deficiency
  • c.811+1G>A Multiple submitters mitochondrial trifunctional protein deficiency 2
  • p.Gly434Val Multiple submitters mitochondrial trifunctional protein deficiency
  • p.Ser176Ter Multiple submitters mitochondrial trifunctional protein deficiency 1
  • c.1013+2T>G Single submitter mitochondrial trifunctional protein deficiency
  • c.1014-2A>G Single submitter mitochondrial trifunctional protein deficiency
  • c.1014-2A>T Single submitter mitochondrial trifunctional protein deficiency
  • c.1062-1G>T Single submitter mitochondrial trifunctional protein deficiency
  • c.110-1G>A Single submitter mitochondrial trifunctional protein deficiency
  • c.110-2A>T Single submitter mitochondrial trifunctional protein deficiency
  • c.1149+1G>T Single submitter mitochondrial trifunctional protein deficiency
  • c.1150-1G>C Single submitter mitochondrial trifunctional protein deficiency
  • c.1150-2A>G Single submitter mitochondrial trifunctional protein deficiency
  • c.1224+1G>A Single submitter mitochondrial trifunctional protein deficiency
  • c.1225-1G>A Single submitter mitochondrial trifunctional protein deficiency
  • c.1389+1G>A Single submitter mitochondrial trifunctional protein deficiency
  • c.209+1G>A Single submitter mitochondrial trifunctional protein deficiency
  • c.255-2del Single submitter mitochondrial trifunctional protein deficiency
  • c.354+1G>T Single submitter mitochondrial trifunctional protein deficiency
  • c.630+1G>A Single submitter mitochondrial trifunctional protein deficiency
  • c.630+2T>C Single submitter mitochondrial trifunctional protein deficiency
  • c.65-1G>C Single submitter mitochondrial trifunctional protein deficiency 2
  • c.811+2T>G Single submitter mitochondrial trifunctional protein deficiency
  • c.933+1G>T Single submitter mitochondrial trifunctional protein deficiency 1
  • p.Ala131Val Single submitter mitochondrial trifunctional protein deficiency
  • p.Ala392del Single submitter mitochondrial trifunctional protein deficiency 2
  • p.Ala440fs Single submitter HADHB-related disorders
  • p.Ala459Thr Single submitter mitochondrial trifunctional protein deficiency
  • p.Ala460Pro Single submitter
  • p.Gln143Glu Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Gln156Ter Single submitter mitochondrial trifunctional protein deficiency
  • p.Gly301Arg Single submitter mitochondrial trifunctional protein deficiency
  • p.Gly367fs Single submitter mitochondrial trifunctional protein deficiency
  • p.Leu445Ter Single submitter mitochondrial trifunctional protein deficiency
  • p.Met136Thr Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Pro130Leu Single submitter mitochondrial trifunctional protein deficiency
  • p.Pro355Thr Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Thr274fs Single submitter mitochondrial trifunctional protein deficiency
  • p.Trp420Gly Single submitter ⚠
  • p.Trp420Ter Single submitter mitochondrial trifunctional protein deficiency 1
  • p.Val115fs Single submitter mitochondrial trifunctional protein deficiency

Conflicting classifications of pathogenicity 22

  • c.1014-7T>C Single submitter mitochondrial trifunctional protein deficiency
  • c.1389+8dup Single submitter mitochondrial trifunctional protein deficiency
  • c.1390-2A>G Single submitter mitochondrial trifunctional protein deficiency 1
  • c.443-10T>C Single submitter mitochondrial trifunctional protein deficiency
  • c.64+15A>T Single submitter mitochondrial trifunctional protein deficiency
  • p.Ala82= Single submitter mitochondrial trifunctional protein deficiency
  • p.Arg174Cys Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Arg229Gln Single submitter mitochondrial trifunctional protein deficiency 1 ⚠
  • p.Arg238Trp Single submitter mitochondrial trifunctional protein deficiency 2 ⚠
  • p.Asn114Ser Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Asp242Gly Single submitter mitochondrial trifunctional protein deficiency 2 ⚠
  • p.Asp372Val Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Gly163Ser Single submitter mitochondrial trifunctional protein deficiency 2 ⚠
  • p.Gly164Ser Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Gly301Ser Single submitter mitochondrial trifunctional protein deficiency 2 ⚠
  • p.Leu121Pro Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Pro333Leu Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Ser383Leu Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Thr133Ala Single submitter mitochondrial trifunctional protein deficiency 1 ⚠
  • p.Thr62Ala Single submitter mitochondrial trifunctional protein deficiency 1 ⚠
  • p.Tyr300= Single submitter mitochondrial trifunctional protein deficiency
  • p.Tyr402= Single submitter mitochondrial trifunctional protein deficiency

Benign 34

Benign/Likely benign 5

  • c.1149+4A>T Multiple submitters mitochondrial trifunctional protein deficiency
  • c.64+11T>C Multiple submitters mitochondrial trifunctional protein deficiency
  • c.*52A>G Multiple submitters mitochondrial trifunctional protein deficiency
  • p.Lys277Arg Multiple submitters mitochondrial trifunctional protein deficiency 2
  • p.Thr2dup Multiple submitters mitochondrial trifunctional protein deficiency

Likely benign 279

  • c.109+208A>G Multiple submitters
  • c.110-2351G>T Multiple submitters
  • c.1149+118A>G Multiple submitters
  • c.1224+56T>A Multiple submitters
  • c.1225-64G>A Multiple submitters
  • c.1390-5T>C Multiple submitters mitochondrial trifunctional protein deficiency
  • c.210-9G>A Multiple submitters mitochondrial trifunctional protein deficiency
  • c.254+8A>G Multiple submitters mitochondrial trifunctional protein deficiency
  • c.255-210C>G Multiple submitters
  • c.354+100G>C Multiple submitters
  • c.442+659_442+660del Multiple submitters
  • c.64+15del Multiple submitters mitochondrial trifunctional protein deficiency
  • c.65-54C>T Multiple submitters
  • c.811+11A>G Multiple submitters mitochondrial trifunctional protein deficiency
  • c.933+163C>T Multiple submitters
  • p.Ala231= Multiple submitters mitochondrial trifunctional protein deficiency
  • p.Asn142= Multiple submitters mitochondrial trifunctional protein deficiency
  • p.Gln350= Multiple submitters mitochondrial trifunctional protein deficiency
  • p.Ile373= Multiple submitters mitochondrial trifunctional protein deficiency
  • p.Leu363= Multiple submitters mitochondrial trifunctional protein deficiency
  • p.Pro333= Multiple submitters mitochondrial trifunctional protein deficiency
  • p.Pro429= Multiple submitters mitochondrial trifunctional protein deficiency
  • p.Ser316= Multiple submitters mitochondrial trifunctional protein deficiency
  • p.Val269= Multiple submitters mitochondrial trifunctional protein deficiency
  • p.Val57= Multiple submitters mitochondrial trifunctional protein deficiency
  • c.1013+18A>G Single submitter mitochondrial trifunctional protein deficiency
  • c.1013+19C>G Single submitter mitochondrial trifunctional protein deficiency
  • c.1013+19C>T Single submitter mitochondrial trifunctional protein deficiency
  • c.1013+21_1013+25dup Single submitter mitochondrial trifunctional protein deficiency
  • c.1013+31del Single submitter
  • c.1014-15dup Single submitter mitochondrial trifunctional protein deficiency
  • c.1014-18C>G Single submitter mitochondrial trifunctional protein deficiency
  • c.1014-4C>G Single submitter mitochondrial trifunctional protein deficiency
  • c.1014-4C>T Single submitter mitochondrial trifunctional protein deficiency
  • c.1061+16_1061+17insTTT Single submitter mitochondrial trifunctional protein deficiency
  • c.1061+17A>G Single submitter mitochondrial trifunctional protein deficiency
  • c.1061+196G>A Single submitter
  • c.1062-14T>C Single submitter mitochondrial trifunctional protein deficiency
  • c.1062-16T>C Single submitter mitochondrial trifunctional protein deficiency
  • c.1062-17T>G Single submitter mitochondrial trifunctional protein deficiency
  • c.1062-18_1062-15del Single submitter mitochondrial trifunctional protein deficiency
  • c.1062-4G>T Single submitter mitochondrial trifunctional protein deficiency
  • c.109+18A>C Single submitter mitochondrial trifunctional protein deficiency
  • c.109+20A>T Single submitter mitochondrial trifunctional protein deficiency
  • c.110-2189AAC[3] Single submitter
  • c.110-2353C>T Single submitter mitochondrial trifunctional protein deficiency 2
  • c.1149+14A>G Single submitter mitochondrial trifunctional protein deficiency
  • c.1149+15A>G Single submitter mitochondrial trifunctional protein deficiency
  • c.1149+17A>T Single submitter mitochondrial trifunctional protein deficiency
  • c.1149+19A>T Single submitter mitochondrial trifunctional protein deficiency
  • c.1149+275del Single submitter
  • c.1149+34A>G Single submitter
  • c.1150-13T>C Single submitter mitochondrial trifunctional protein deficiency
  • c.1150-18G>A Single submitter mitochondrial trifunctional protein deficiency
  • c.1150-18G>T Single submitter mitochondrial trifunctional protein deficiency
  • c.1150-19C>T Single submitter mitochondrial trifunctional protein deficiency
  • c.1150-20T>G Single submitter mitochondrial trifunctional protein deficiency
  • c.1224+10T>C Single submitter mitochondrial trifunctional protein deficiency
  • c.1224+11A>G Single submitter mitochondrial trifunctional protein deficiency
  • c.1224+16T>A Single submitter mitochondrial trifunctional protein deficiency
  • c.1224+5G>A Single submitter mitochondrial trifunctional protein deficiency
  • c.1224+9C>A Single submitter mitochondrial trifunctional protein deficiency
  • c.1225-100G>A Single submitter
  • c.1225-11G>T Single submitter mitochondrial trifunctional protein deficiency
  • c.1225-12dup Single submitter mitochondrial trifunctional protein deficiency
  • c.1225-15C>G Single submitter mitochondrial trifunctional protein deficiency
  • c.1225-6A>T Single submitter mitochondrial trifunctional protein deficiency
  • c.1389+10A>C Single submitter mitochondrial trifunctional protein deficiency
  • c.1389+10A>G Single submitter mitochondrial trifunctional protein deficiency
  • c.1389+11G>A Single submitter mitochondrial trifunctional protein deficiency
  • c.1389+19A>G Single submitter mitochondrial trifunctional protein deficiency
  • c.1389+4C>T Single submitter mitochondrial trifunctional protein deficiency
  • c.1390-247A>T Single submitter
  • c.1390-4A>G Single submitter mitochondrial trifunctional protein deficiency
  • c.209+10A>G Single submitter mitochondrial trifunctional protein deficiency
  • c.209+10A>T Single submitter mitochondrial trifunctional protein deficiency
  • c.209+12A>G Single submitter mitochondrial trifunctional protein deficiency
  • c.209+13T>C Single submitter mitochondrial trifunctional protein deficiency
  • c.209+14_209+15del Single submitter mitochondrial trifunctional protein deficiency
  • c.209+14G>C Single submitter mitochondrial trifunctional protein deficiency
  • c.209+16T>C Single submitter mitochondrial trifunctional protein deficiency
  • c.209+18A>G Single submitter mitochondrial trifunctional protein deficiency
  • c.209+20A>G Single submitter mitochondrial trifunctional protein deficiency
  • c.209+7A>G Single submitter mitochondrial trifunctional protein deficiency
  • c.210-10C>T Single submitter mitochondrial trifunctional protein deficiency
  • c.210-136_210-123del Single submitter
  • c.210-18C>G Single submitter mitochondrial trifunctional protein deficiency
  • c.210-18C>T Single submitter mitochondrial trifunctional protein deficiency
  • c.210-4C>G Single submitter mitochondrial trifunctional protein deficiency
  • c.254+15T>C Single submitter mitochondrial trifunctional protein deficiency
  • c.254+17T>G Single submitter mitochondrial trifunctional protein deficiency
  • c.254+19A>T Single submitter mitochondrial trifunctional protein deficiency
  • c.255-13T>C Single submitter mitochondrial trifunctional protein deficiency
  • c.255-14A>G Single submitter mitochondrial trifunctional protein deficiency
  • c.255-20C>T Single submitter mitochondrial trifunctional protein deficiency
  • c.255-7C>T Single submitter mitochondrial trifunctional protein deficiency
  • c.354+15C>T Single submitter mitochondrial trifunctional protein deficiency
  • c.354+17T>G Single submitter mitochondrial trifunctional protein deficiency
  • c.354+20T>A Single submitter mitochondrial trifunctional protein deficiency
  • c.355-11A>G Single submitter mitochondrial trifunctional protein deficiency
  • c.355-13_355-12del Single submitter mitochondrial trifunctional protein deficiency
  • c.355-15C>T Single submitter mitochondrial trifunctional protein deficiency
  • c.355-17C>G Single submitter mitochondrial trifunctional protein deficiency
  • c.355-17C>T Single submitter mitochondrial trifunctional protein deficiency
  • c.355-20A>C Single submitter mitochondrial trifunctional protein deficiency
  • c.442+12T>C Single submitter mitochondrial trifunctional protein deficiency
  • c.442+15A>G Single submitter mitochondrial trifunctional protein deficiency
  • c.442+15A>T Single submitter mitochondrial trifunctional protein deficiency
  • c.442+18C>T Single submitter mitochondrial trifunctional protein deficiency
  • c.442+92_442+95del Single submitter
  • c.442+95dup Single submitter
  • c.443-11G>A Single submitter mitochondrial trifunctional protein deficiency
  • c.443-13del Single submitter mitochondrial trifunctional protein deficiency
  • c.443-20G>A Single submitter mitochondrial trifunctional protein deficiency
  • c.443-4G>A Single submitter mitochondrial trifunctional protein deficiency
  • c.443-4G>C Single submitter mitochondrial trifunctional protein deficiency
  • c.443-678C>T Single submitter
  • c.443-679T>G Single submitter
  • c.630+10G>A Single submitter mitochondrial trifunctional protein deficiency
  • c.630+16G>A Single submitter mitochondrial trifunctional protein deficiency
  • c.630+18A>G Single submitter
  • c.630+19G>A Single submitter mitochondrial trifunctional protein deficiency
  • c.631-11T>C Single submitter mitochondrial trifunctional protein deficiency
  • c.631-15T>C Single submitter mitochondrial trifunctional protein deficiency
  • c.631-16A>C Single submitter mitochondrial trifunctional protein deficiency
  • c.631-16A>G Single submitter mitochondrial trifunctional protein deficiency
  • c.631-16A>T Single submitter mitochondrial trifunctional protein deficiency
  • c.631-17G>A Single submitter mitochondrial trifunctional protein deficiency
  • c.631-17G>T Single submitter mitochondrial trifunctional protein deficiency
  • c.631-5C>T Single submitter mitochondrial trifunctional protein deficiency
  • c.631-6T>C Single submitter mitochondrial trifunctional protein deficiency
  • c.631-9C>T Single submitter mitochondrial trifunctional protein deficiency
  • c.64+10T>C Single submitter mitochondrial trifunctional protein deficiency
  • c.64+13T>C Single submitter mitochondrial trifunctional protein deficiency
  • c.64+18T>A Single submitter mitochondrial trifunctional protein deficiency
  • c.64+7TTA[2] Single submitter mitochondrial trifunctional protein deficiency
  • c.65-15T>A Single submitter mitochondrial trifunctional protein deficiency
  • c.65-19A>G Single submitter mitochondrial trifunctional protein deficiency
  • c.65-8T>C Single submitter mitochondrial trifunctional protein deficiency
  • c.65-9G>A Single submitter mitochondrial trifunctional protein deficiency
  • c.811+15T>A Single submitter mitochondrial trifunctional protein deficiency
  • c.811+5A>C Single submitter
  • c.812-116T>G Single submitter
  • c.812-11T>G Single submitter mitochondrial trifunctional protein deficiency
  • c.812-14C>G Single submitter mitochondrial trifunctional protein deficiency
  • c.812-14C>T Single submitter mitochondrial trifunctional protein deficiency
  • c.812-16T>A Single submitter mitochondrial trifunctional protein deficiency
  • c.812-5A>C Single submitter mitochondrial trifunctional protein deficiency
  • c.933+11A>G Single submitter mitochondrial trifunctional protein deficiency
  • c.933+16A>G Single submitter mitochondrial trifunctional protein deficiency
  • c.933+176C>G Single submitter
  • c.933+20G>A Single submitter mitochondrial trifunctional protein deficiency
  • c.933+8T>C Single submitter mitochondrial trifunctional protein deficiency
  • c.934-10A>G Single submitter mitochondrial trifunctional protein deficiency
  • c.934-10A>T Single submitter
  • c.934-13G>A Single submitter mitochondrial trifunctional protein deficiency
  • c.934-13G>C Single submitter mitochondrial trifunctional protein deficiency
  • c.934-16C>T Single submitter mitochondrial trifunctional protein deficiency
  • c.934-20T>G Single submitter mitochondrial trifunctional protein deficiency
  • c.934-267T>C Single submitter
  • c.934-269T>G Single submitter
  • c.934-8C>T Single submitter mitochondrial trifunctional protein deficiency
  • c.-43G>A Single submitter
  • c.*500G>A Single submitter mitochondrial trifunctional protein deficiency
  • p.Ala120= Single submitter mitochondrial trifunctional protein deficiency
  • p.Ala141= Single submitter mitochondrial trifunctional protein deficiency
  • p.Ala144= Single submitter mitochondrial trifunctional protein deficiency
  • p.Ala162= Single submitter mitochondrial trifunctional protein deficiency
  • p.Ala18= Single submitter mitochondrial trifunctional protein deficiency
  • p.Ala213= Single submitter mitochondrial trifunctional protein deficiency
  • p.Ala232= Single submitter mitochondrial trifunctional protein deficiency
  • p.Ala233= Single submitter mitochondrial trifunctional protein deficiency
  • p.Ala245= Single submitter mitochondrial trifunctional protein deficiency
  • p.Ala252= Single submitter mitochondrial trifunctional protein deficiency
  • p.Ala305= Single submitter mitochondrial trifunctional protein deficiency
  • p.Ala315= Single submitter mitochondrial trifunctional protein deficiency
  • p.Ala317= Single submitter mitochondrial trifunctional protein deficiency
  • p.Ala35= Single submitter mitochondrial trifunctional protein deficiency
  • p.Ala366= Single submitter mitochondrial trifunctional protein deficiency
  • p.Ala392= Single submitter mitochondrial trifunctional protein deficiency
  • p.Ala432= Single submitter mitochondrial trifunctional protein deficiency
  • p.Ala456= Single submitter mitochondrial trifunctional protein deficiency
  • p.Ala457= Single submitter mitochondrial trifunctional protein deficiency
  • p.Ala459= Single submitter mitochondrial trifunctional protein deficiency
  • p.Arg177= Single submitter mitochondrial trifunctional protein deficiency
  • p.Arg203= Single submitter mitochondrial trifunctional protein deficiency
  • p.Arg238= Single submitter mitochondrial trifunctional protein deficiency
  • p.Arg247= Single submitter mitochondrial trifunctional protein deficiency
  • p.Arg61= Single submitter mitochondrial trifunctional protein deficiency
  • p.Asn418= Single submitter mitochondrial trifunctional protein deficiency
  • p.Asp158= Single submitter mitochondrial trifunctional protein deficiency
  • p.Asp170= Single submitter mitochondrial trifunctional protein deficiency
  • p.Asp396= Single submitter mitochondrial trifunctional protein deficiency
  • p.Asp58= Single submitter mitochondrial trifunctional protein deficiency
  • p.Asp73= Single submitter mitochondrial trifunctional protein deficiency
  • p.Gln108= Single submitter mitochondrial trifunctional protein deficiency
  • p.Gln451= Single submitter mitochondrial trifunctional protein deficiency
  • p.Glu216= Single submitter mitochondrial trifunctional protein deficiency
  • p.Glu380= Single submitter mitochondrial trifunctional protein deficiency
  • p.Glu96= Single submitter mitochondrial trifunctional protein deficiency
  • p.Gly163= Single submitter mitochondrial trifunctional protein deficiency
  • p.Gly224= Single submitter mitochondrial trifunctional protein deficiency
  • p.Gly404= Single submitter mitochondrial trifunctional protein deficiency
  • p.Gly450= Single submitter mitochondrial trifunctional protein deficiency
  • p.Gly453= Single submitter mitochondrial trifunctional protein deficiency
  • p.Gly462= Single submitter mitochondrial trifunctional protein deficiency
  • p.Gly68= Single submitter mitochondrial trifunctional protein deficiency
  • p.His249= Single submitter mitochondrial trifunctional protein deficiency
  • p.His379= Single submitter mitochondrial trifunctional protein deficiency
  • p.His428= Single submitter mitochondrial trifunctional protein deficiency
  • p.His465= Single submitter mitochondrial trifunctional protein deficiency
  • p.Ile101= Single submitter mitochondrial trifunctional protein deficiency
  • p.Ile102= Single submitter mitochondrial trifunctional protein deficiency
  • p.Ile139= Single submitter mitochondrial trifunctional protein deficiency
  • p.Ile160= Single submitter mitochondrial trifunctional protein deficiency
  • p.Ile199= Single submitter mitochondrial trifunctional protein deficiency
  • p.Ile23Val Single submitter Inborn genetic diseases
  • p.Leu121= Single submitter mitochondrial trifunctional protein deficiency
  • p.Leu151= Single submitter mitochondrial trifunctional protein deficiency
  • p.Leu182= Single submitter mitochondrial trifunctional protein deficiency
  • p.Leu19= Single submitter mitochondrial trifunctional protein deficiency
  • p.Leu196= Single submitter mitochondrial trifunctional protein deficiency
  • p.Leu246= Single submitter mitochondrial trifunctional protein deficiency
  • p.Leu327= Single submitter mitochondrial trifunctional protein deficiency
  • p.Leu337= Single submitter mitochondrial trifunctional protein deficiency
  • p.Leu351= Single submitter mitochondrial trifunctional protein deficiency
  • p.Leu437= Single submitter mitochondrial trifunctional protein deficiency
  • p.Leu46= Single submitter mitochondrial trifunctional protein deficiency
  • p.Leu65= Single submitter mitochondrial trifunctional protein deficiency
  • p.Lys178= Single submitter mitochondrial trifunctional protein deficiency
  • p.Lys188= Single submitter mitochondrial trifunctional protein deficiency
  • p.Lys254= Single submitter mitochondrial trifunctional protein deficiency
  • p.Lys298= Single submitter mitochondrial trifunctional protein deficiency
  • p.Lys325= Single submitter
  • p.Lys391= Single submitter mitochondrial trifunctional protein deficiency
  • p.Lys43= Single submitter mitochondrial trifunctional protein deficiency
  • p.Lys447= Single submitter mitochondrial trifunctional protein deficiency
  • p.Lys474= Single submitter mitochondrial trifunctional protein deficiency
  • p.Phe206= Single submitter mitochondrial trifunctional protein deficiency
  • p.Phe217= Single submitter mitochondrial trifunctional protein deficiency
  • p.Phe310= Single submitter mitochondrial trifunctional protein deficiency
  • p.Pro299= Single submitter mitochondrial trifunctional protein deficiency
  • p.Pro63= Single submitter mitochondrial trifunctional protein deficiency
  • p.Pro7= Single submitter mitochondrial trifunctional protein deficiency
  • p.Ser169= Single submitter mitochondrial trifunctional protein deficiency
  • p.Ser220= Single submitter mitochondrial trifunctional protein deficiency
  • p.Ser226= Single submitter mitochondrial trifunctional protein deficiency
  • p.Ser29= Single submitter mitochondrial trifunctional protein deficiency
  • p.Ser30= Single submitter mitochondrial trifunctional protein deficiency
  • p.Ser308= Single submitter mitochondrial trifunctional protein deficiency
  • p.Ser309= Single submitter mitochondrial trifunctional protein deficiency
  • p.Ser395= Single submitter mitochondrial trifunctional protein deficiency
  • p.Ser423= Single submitter mitochondrial trifunctional protein deficiency
  • p.Thr105= Single submitter mitochondrial trifunctional protein deficiency
  • p.Thr133= Single submitter mitochondrial trifunctional protein deficiency
  • p.Thr135= Single submitter mitochondrial trifunctional protein deficiency
  • p.Thr146= Single submitter
  • p.Thr219= Single submitter mitochondrial trifunctional protein deficiency
  • p.Thr222= Single submitter mitochondrial trifunctional protein deficiency
  • p.Thr274= Single submitter mitochondrial trifunctional protein deficiency
  • p.Thr276= Single submitter mitochondrial trifunctional protein deficiency
  • p.Thr312= Single submitter mitochondrial trifunctional protein deficiency
  • p.Thr407= Single submitter mitochondrial trifunctional protein deficiency
  • p.Thr42= Single submitter mitochondrial trifunctional protein deficiency
  • p.Thr45= Single submitter mitochondrial trifunctional protein deficiency
  • p.Thr85= Single submitter Inborn genetic diseases
  • p.Tyr342= Single submitter mitochondrial trifunctional protein deficiency
  • p.Tyr357= Single submitter mitochondrial trifunctional protein deficiency
  • p.Tyr472= Single submitter mitochondrial trifunctional protein deficiency
  • p.Tyr71= Single submitter mitochondrial trifunctional protein deficiency
  • p.Val110= Single submitter mitochondrial trifunctional protein deficiency
  • p.Val115= Single submitter mitochondrial trifunctional protein deficiency
  • p.Val264= Single submitter mitochondrial trifunctional protein deficiency
  • p.Val54= Single submitter mitochondrial trifunctional protein deficiency
  • p.Val56= Single submitter mitochondrial trifunctional protein deficiency
  • p.Val93= Single submitter mitochondrial trifunctional protein deficiency
  • c.1389+4C>G No assertion criteria HADHB-related disorder
  • c.442+665A>G No assertion criteria HADHB-related disorder
  • p.Asn401= No assertion criteria HADHB-related disorder

Uncertain significance 164

  • c.109+4C>T Multiple submitters mitochondrial trifunctional protein deficiency
  • c.109+5A>G Multiple submitters mitochondrial trifunctional protein deficiency
  • p.Ala189Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala322Val Multiple submitters mitochondrial trifunctional protein deficiency
  • p.Ala328Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala37Pro Multiple submitters mitochondrial trifunctional protein deficiency ⚠
  • p.Ala440Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Ala441Thr Multiple submitters mitochondrial trifunctional protein deficiency ⚠
  • p.Ala83Val Multiple submitters mitochondrial trifunctional protein deficiency ⚠
  • p.Arg195Gln Multiple submitters mitochondrial trifunctional protein deficiency 2 ⚠
  • p.Arg203Gln Multiple submitters mitochondrial trifunctional protein deficiency ⚠
  • p.Arg282Cys Multiple submitters mitochondrial trifunctional protein deficiency ⚠
  • p.Arg282His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg33Gln Multiple submitters mitochondrial trifunctional protein deficiency ⚠
  • p.Arg446Gln Multiple submitters ⚠
  • p.Arg446Trp Multiple submitters mitochondrial trifunctional protein deficiency ⚠
  • p.Asn187Ser Multiple submitters mitochondrial trifunctional protein deficiency ⚠
  • p.Asn401Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Asp58Gly Multiple submitters mitochondrial trifunctional protein deficiency ⚠
  • p.Gln288Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Glu243Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Glu448Gly Multiple submitters mitochondrial trifunctional protein deficiency ⚠
  • p.Gly280Asp Multiple submitters ⚠
  • p.Gly427Glu Multiple submitters ⚠
  • p.His89Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Leu186Val Multiple submitters mitochondrial trifunctional protein deficiency ⚠
  • p.Leu211His Multiple submitters Inborn genetic diseases ⚠
  • p.Leu87Ser Multiple submitters mitochondrial trifunctional protein deficiency ⚠
  • p.Met341Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Phe376Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro172Ser Multiple submitters mitochondrial trifunctional protein deficiency ⚠
  • p.Pro212Leu Multiple submitters mitochondrial trifunctional protein deficiency ⚠
  • p.Pro355Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser197Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Thr91Ile Multiple submitters mitochondrial trifunctional protein deficiency ⚠
  • p.Val214Ile Multiple submitters mitochondrial trifunctional protein deficiency ⚠
  • p.Val469Met Multiple submitters mitochondrial trifunctional protein deficiency 2 ⚠
  • p.Val56Leu Multiple submitters Inborn genetic diseases ⚠
  • c.1013+6G>T Single submitter
  • c.1061+3_1061+4dup Single submitter
  • c.1061+3A>G Single submitter mitochondrial trifunctional protein deficiency
  • c.1061+6T>A Single submitter
  • c.110-2324G>C Single submitter metabolic acidosis
  • c.1149+4A>G Single submitter mitochondrial trifunctional protein deficiency
  • c.210-17T>A Single submitter mitochondrial trifunctional protein deficiency
  • c.210-5C>A Single submitter mitochondrial trifunctional protein deficiency
  • c.355-12T>C Single submitter mitochondrial trifunctional protein deficiency
  • c.442+3A>T Single submitter mitochondrial trifunctional protein deficiency 2
  • c.443-10T>A Single submitter mitochondrial trifunctional protein deficiency
  • c.933+6del Single submitter mitochondrial trifunctional protein deficiency
  • c.-53C>T Single submitter mitochondrial trifunctional protein deficiency
  • c.-9+11G>C Single submitter mitochondrial trifunctional protein deficiency
  • c.*241T>G Single submitter mitochondrial trifunctional protein deficiency
  • c.*244T>G Single submitter mitochondrial trifunctional protein deficiency
  • c.*268G>A Single submitter mitochondrial trifunctional protein deficiency
  • c.*380A>G Single submitter mitochondrial trifunctional protein deficiency
  • c.*43C>T Single submitter mitochondrial trifunctional protein deficiency
  • p.Ala116Ser Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Ala144Val Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Ala189fs Single submitter
  • p.Ala213Val Single submitter Inborn genetic diseases ⚠
  • p.Ala227Thr Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Ala232Ser Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Ala232Thr Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Ala245Val Single submitter Inborn genetic diseases ⚠
  • p.Ala252Thr Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Ala295Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala315Val Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Ala322Glu Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Ala37= Single submitter
  • p.Ala375Thr Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Ala381Val Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Ala457Thr Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Ala466Val Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Ala83Gly Single submitter ⚠
  • p.Arg117Gly Single submitter ⚠
  • p.Arg229Pro Single submitter ⚠
  • p.Arg238Gln Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Arg436Gly Single submitter mitochondrial trifunctional protein deficiency 2 ⚠
  • p.Arg52Trp Single submitter
  • p.Asn307Asp Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Asn401Asp Single submitter Inborn genetic diseases
  • p.Asn418Asp Single submitter mitochondrial trifunctional protein deficiency 2 ⚠
  • p.Asn50Ile Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Asn50Lys Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Asn50Ser Single submitter Inborn genetic diseases ⚠
  • p.Asp170Asn Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Asp278His Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Asp339Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp394Tyr Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Asp396Tyr Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Asp99Tyr Single submitter Inborn genetic diseases ⚠
  • p.Cys157Gly Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Gln241Glu Single submitter ⚠
  • p.Gln31Glu Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Gln350Lys Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Gln385Pro Single submitter ⚠
  • p.Gln39Glu Single submitter ⚠
  • p.Gln451Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln463Glu Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Glu109Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu118Val Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Glu166Lys Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Glu243Gly Single submitter Inborn genetic diseases ⚠
  • p.Glu415Ala Single submitter ⚠
  • p.Glu415Gly Single submitter Inborn genetic diseases ⚠
  • p.Glu470Ala Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Gly330Ala Single submitter Inborn genetic diseases ⚠
  • p.Gly330Asp Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Gly427Arg Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Gly453Ser Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.His225Asn Single submitter ⚠
  • p.His249Asp Single submitter ⚠
  • p.His77Arg Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Ile139Met Single submitter Inborn genetic diseases ⚠
  • p.Leu11Pro Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Leu239Pro Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Leu32Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu351Val Single submitter Inborn genetic diseases ⚠
  • p.Leu74Arg Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Lys291Arg Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Lys291Thr Single submitter Inborn genetic diseases ⚠
  • p.Lys332Glu Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Lys334Gln Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Lys348Asn Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Lys72Glu Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Met168Lys Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Met192Val Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Met318Arg Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Met370Ile Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Met370Val Single submitter Inborn genetic diseases ⚠
  • p.Met439Val Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Met467Leu Single submitter mitochondrial trifunctional protein deficiency 2 ⚠
  • p.Met467Val Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Met75Leu Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Phe310Leu Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Pro130Ser Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Pro25Leu Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Pro270Leu Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Pro360Ser Single submitter Inborn genetic diseases
  • p.Pro36Ser Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Pro473Thr Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Ser218Pro Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Ser220Gly Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Ser22Cys Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Ser237Cys Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Ser27Thr Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Ser308Tyr Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Thr45Met Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Thr69Ser Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Thr85Met Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Trp17Leu Single submitter ⚠
  • p.Trp397Arg Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Tyr100Cys Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Tyr336Cys Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Val149Ala Single submitter ⚠
  • p.Val161Met Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Val165Ile Single submitter mitochondrial trifunctional protein deficiency 2 ⚠
  • p.Val303Met Single submitter ⚠
  • p.Val38Phe Single submitter mitochondrial trifunctional protein deficiency ⚠
  • p.Val409Ala Single submitter Inborn genetic diseases ⚠
  • c.210-1G>C No assertion criteria Charcot-Marie-Tooth disease
  • p.Arg229Leu No assertion criteria ⚠
  • p.Gly164Asp No assertion criteria mitochondrial trifunctional protein deficiency ⚠