Sugi Variant

Sugi Variant/ETFDH

ETFDH — 1047 ClinVar variants

All ClinVar germline ETFDH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 327 flagged for review →

89 Pathogenic · 77 Pathogenic/Likely pathogenic · 123 Likely pathogenic · 63 Conflicting · 21 Benign · 7 Benign/Likely benign · 381 Likely benign · 286 Uncertain significance

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

⚑ Evidence disagreements 327

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 14

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 29

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

Predictors lean, ClinVar uncertain 134

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

Predictors split 150

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

All ETFDH variants

Pathogenic 89

  • c.1285+1G>A Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • c.1690+1G>T Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Ala18fs Multiple submitters Glutaric acidemia type 2C
  • p.Ala84Thr Multiple submitters Glutaric acidemia type 2C
  • p.Arg175Leu Multiple submitters Glutaric acidemia type 2C
  • p.Arg41Ter Multiple submitters Abnormality of metabolism/homeostasis
  • p.Arg559Ter Multiple submitters Glutaric acidemia type 2C
  • p.Asp130Val Multiple submitters multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Asp541fs Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Gln89fs Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Glu144fs Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Gly467Arg Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Ile428fs Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Leu409Phe Multiple submitters Glutaric acidemia type 2C ⚠
  • p.Leu550fs Multiple submitters Glutaric acidemia type 2C
  • p.Met1Ile Multiple submitters Glutaric acidemia type 2C
  • p.Trp182Ter Multiple submitters Glutaric acidemia type 2C
  • p.Trp484Arg Multiple submitters Glutaric acidemia type 2C
  • p.Trp603Ter Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Tyr257Cys Multiple submitters Glutaric acidemia type 2C ⚠
  • p.Tyr361Ter Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Tyr465Ter Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Val291Gly Multiple submitters Glutaric acidemia type 2C
  • c.1285+2T>G Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.175+2T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.176-1G>T Single submitter Glutaric acidemia type 2C
  • c.831+1del Single submitter Glutaric acidemia type 2C
  • c.831+2T>C Single submitter Glutaric acidemia type 2C
  • p.Ala76fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Arg155Ter Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Arg452fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Arg51Trp Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Asn24fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Asp593fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Asp596fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Asp70fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Cys118fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Cys458Ter Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Gln424Ter Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Gln89Ter Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Glu152fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Glu193Ter Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Glu232Ter Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Glu567Ter Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Glu58Ter Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Gly306Ter Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Gly355fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Gly381Arg Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Gly390fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Gly460Ter Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Gly608fs Single submitter
  • p.Gly611del Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.His459fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.His488fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.His536fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Ile149fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Ile505fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Ile544fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Leu127Arg Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Leu418_Thr419insTer Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Leu478Ter Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Lys125fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Lys153fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Lys487fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Lys7fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Met617fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Phe128fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Pro121fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Pro129fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Pro137Ser Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Pro157fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Pro298Ser Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Pro508Thr Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Pro556Ser Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Ser450fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Ser491fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Ser543fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Ser551fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Ser82fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Trp33Ter Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Trp476Ter Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Tyr13fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Tyr271Ter Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Tyr310fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Tyr333Ter Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Tyr435fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Tyr553Ter Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Tyr614Ter Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Glu316Ter No assertion criteria Glutaric acidemia iic, late-onset

Pathogenic/Likely pathogenic 77

  • c.1117-2A>G Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • c.1690+2T>G Multiple submitters ETFDH-related disorder
  • c.1691-3C>G Multiple submitters Glutaric acidemia type 2C
  • c.175+1del Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • c.175+1G>C Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • c.176-2A>T Multiple submitters Glutaric acidemia type 2C
  • c.34+5G>C Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • c.405+1G>T Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • c.405+3A>T Multiple submitters Glutaric acidemia type 2C
  • c.406-2A>G Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • c.485_487+14delinsT Multiple submitters Inborn genetic diseases
  • c.488-1G>T Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • c.684+2T>G Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • c.831+2T>G Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • c.972+1del Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Ala12Pro Multiple submitters multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala18_Leu19insTer Multiple submitters Glutaric acidemia type 2C
  • p.Ala215Thr Multiple submitters Glutaric acidemia type 2C ⚠
  • p.Ala84Val Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Arg155Gly Multiple submitters Glutaric acidemia type 2C ⚠
  • p.Arg175Cys Multiple submitters Glutaric acidemia type 2C ⚠
  • p.Arg175His Multiple submitters Glutaric acidemia type 2C ⚠
  • p.Arg358Lys Multiple submitters Glutaric acidemia type 2C
  • p.Arg358Ser Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Arg99Cys Multiple submitters Glutaric acidemia type 2C ⚠
  • p.Asn582fs Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Asp218Asn Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Gln14fs Multiple submitters Glutaric acidemia type 2C
  • p.Glu133fs Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Glu144Ter Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Glu246Lys Multiple submitters Glutaric acidemia type 2C
  • p.Glu412Ter Multiple submitters Other rare neuromuscular disorders
  • p.Glu447Ter Multiple submitters Glutaric acidemia type 2C
  • p.Glu557Lys Multiple submitters Glutaric acidemia type 2C
  • p.Gly272Arg Multiple submitters Glutaric acidemia type 2C
  • p.Gly356Glu Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Gly472Arg Multiple submitters Inborn genetic diseases
  • p.Gly610Arg Multiple submitters Glutaric acidemia type 2C
  • p.Gly611Glu Multiple submitters Glutaric acidemia type 2C
  • p.Gly616fs Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.His588Arg Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Ile477_Leu478insTer Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Leu102fs Multiple submitters ETFDH-related disorder
  • p.Leu127His Multiple submitters Glutaric acidemia type 2C
  • p.Leu138Arg Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Leu334Pro Multiple submitters Glutaric acidemia type 2C
  • p.Leu377Pro Multiple submitters Glutaric acidemia type 2C ⚠
  • p.Leu496Pro Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Leu519fs Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Leu524fs Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Leu90Ter Multiple submitters Glutaric acidemia type 2C
  • p.Lys426Ter Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Lys53Ter Multiple submitters Glutaric acidemia type 2C
  • p.Lys55fs Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Met1Thr Multiple submitters Glutaric acidemia type 2C
  • p.Met404Thr Multiple submitters Glutaric acidemia type 2C
  • p.Phe337fs Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Phe379fs Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Pro196fs Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Pro227Thr Multiple submitters Glutaric acidemia type 2C
  • p.Pro27Ser Multiple submitters Glutaric acidemia type 2C ⚠
  • p.Pro380fs Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Pro456Leu Multiple submitters Glutaric acidemia type 2C
  • p.Pro456Ser Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Pro483Leu Multiple submitters Acyl-CoA dehydrogenase deficiency, glutaric acidemia type II ⚠
  • p.Pro534Leu Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Pro545fs Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Ser115Ter Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Ser457fs Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Ser551Ter Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Thr419fs Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Thr591_Cys592insTer Multiple submitters Glutaric acidemia type 2C
  • p.Trp286Ter Multiple submitters Glutaric acidemia type 2C
  • p.Tyr154Ter Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Tyr361Cys Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Val280fs Multiple submitters Glutaric acidemia type 2C
  • p.Val451Leu Multiple submitters Glutaric acidemia type 2C

Likely pathogenic 123

  • c.1117-1G>A Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • c.1469-1G>T Multiple submitters Glutaric acidemia type 2C
  • c.405+1G>A Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • c.606+1G>A Multiple submitters Glutaric acidemia type 2C
  • c.606+4dup Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • c.607-1G>A Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • c.607-1G>T Multiple submitters Glutaric acidemia type 2C
  • c.684+2T>C Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • c.685-1G>A Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Ala79Gly Multiple submitters multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Asp596Asn Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Gln222Pro Multiple submitters Glutaric acidemia type 2C ⚠
  • p.Glu193fs Multiple submitters Glutaric acidemia type 2C
  • p.Glu567Lys Multiple submitters Glutaric acidemia type 2C
  • p.Gly362Arg Multiple submitters ETFDH-related disorder
  • p.Gly611Arg Multiple submitters ETFDH-related disorder
  • p.His529Arg Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Ile505Thr Multiple submitters multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Leu127Pro Multiple submitters Glutaric acidemia type 2C
  • p.Leu176Phe Multiple submitters Glutaric acidemia type 2C
  • p.Ser307Cys Multiple submitters Glutaric acidemia type 2C ⚠
  • p.Ser82Pro Multiple submitters Glutaric acidemia type 2C
  • p.Thr485Ser Multiple submitters Glutaric acidemia type 2C ⚠
  • p.Tyr333Cys Multiple submitters Glutaric acidemia type 2C ⚠
  • p.Tyr553His Multiple submitters Glutaric acidemia type 2C ⚠
  • p.Val174Ala Multiple submitters multiple acyl-CoA dehydrogenase deficiency ⚠
  • c.1116+2T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1469-1G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1690+1G>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1691-2_1691-1delinsGA Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.175+1G>A Single submitter Glutaric acidemia type 2C
  • c.176-1G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.34+1G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.34+2T>A Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.35-1008T>G Single submitter Glutaric acidemia type 2C
  • c.485_487+13del Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.487+1G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.487+2T>A Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.487+2T>G Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.606+1G>T Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.607-1G>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.607-2A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.831+1G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.831+3A>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.832-1G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.973-1G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.973-2A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Ala117Asp Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Ala229fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Ala264fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Ala76Thr Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg290fs Single submitter Glutaric acidemia type 2C
  • p.Arg301fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Arg452Gly Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Arg455fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Arg51fs Single submitter ETFDH-related disorder
  • p.Arg51Leu Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Arg51Pro Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Arg99Pro Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Asn367Asp Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Asn416Ter Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Asn549fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Asp261fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Asp501_Cys502insTer Single submitter Glutaric acidemia type 2C
  • p.Gln108_Gly110delinsHisPro Single submitter
  • p.Gln269Leu Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Gln573Ter Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Gln584Ter Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Gln599Ter Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Glu193Lys Single submitter Glutaric acidemia type 2C
  • p.Glu246Ter Single submitter Glutaric acidemia type 2C
  • p.Glu421Ter Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Glu58fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Gly274Glu Single submitter Glutaric acidemia type 2C
  • p.Gly306fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Gly429Ter Single submitter Glutaric acidemia type 2C
  • p.Gly467Glu Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Gly472Ala Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Gly480fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.His112fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.His529Gln Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.His588Tyr Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Ile473fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Ile552_Tyr553insTer Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Ile594Thr Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Leu127Phe Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Leu309Arg Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Leu539Ter Single submitter Glutaric acidemia type 2C
  • p.Leu87fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Lys228Asn Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Lys344fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Met404Leu Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Phe128Ser Single submitter
  • p.Phe340fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Phe371Cys Single submitter Abnormality of metabolism/homeostasis ⚠
  • p.Phe516Ser Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Pro389fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Pro40fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Pro456Ala Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Pro483fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Pro612Thr Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Ser35Ter Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Ser425Ter Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Thr242fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Thr242Ile Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Thr31fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Thr402Ala Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Trp131Ter Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Trp297Leu Single submitter Glutaric acidemia type 2C
  • p.Trp297Ter Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Trp445Cys Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Trp57Arg Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Trp57Ter Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Tyr154fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Tyr257His Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Tyr465fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Tyr553fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Val100Glu Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Val604fs Single submitter Glutaric acidemia type 2C
  • p.Val604Glu Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Val605fs Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Val72del Single submitter
  • p.Ser307Phe No assertion criteria multiple acyl-CoA dehydrogenase deficiency

Conflicting classifications of pathogenicity 63

  • c.1116+7C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1117-11T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.34+5G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.405+3A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.406-1G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.488-12A>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.488-6T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.488-9T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.831+4T>C Single submitter Inborn genetic diseases
  • c.832-10T>G Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.972+13C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Ala187Val Single submitter Glutaric acidemia type 2C ⚠
  • p.Ala245Thr Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala360Val Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg175Pro Single submitter ⚠
  • p.Arg350Gln Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg350Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg41Gln Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg495Gln Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg51Gln Single submitter Glutaric acidemia type 2C ⚠
  • p.Arg99His Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Asn331Ile Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Asp511Asn Single submitter Glutaric acidemia type 2C ⚠
  • p.Cys118Phe Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Gln269His Single submitter glutaric acidemia IIc ⚠
  • p.Glu193Ala Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Glu506= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Gly170Cys Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Gly191Asp Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Gly247Arg Single submitter Glutaric acidemia type 2C ⚠
  • p.Gly247Val Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Gly356Arg Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Gly369Ala Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Gly381Asp Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Gly463Asp Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.His459Tyr Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Ile21= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Ile243Thr Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Ile454Thr Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Ile48Val Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Leu138= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Leu138Phe Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Leu262Phe Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Leu299= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Leu334Arg Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Phe244Ser Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Phe340Tyr Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Pro196His Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Pro227Ser Single submitter Glutaric acidemia type 2C ⚠
  • p.Pro4= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Pro483Gln Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Pro510= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Ser442Leu Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Ser82Phe Single submitter ETFDH-related disorder ⚠
  • p.Ter618Gln Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Thr31Ala Single submitter Inborn genetic diseases ⚠
  • p.Trp279Arg Single submitter Glutaric acidemia type 2C ⚠
  • p.Trp445Arg Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Tyr310Cys Single submitter Glutaric acidemia type 2C ⚠
  • p.Val444Ala Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Val571Leu Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
  • p.Val604Met Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
  • c.606+3T>G No assertion criteria Glutaric acidemia type 2C

Benign 21

  • c.1116+141A>G Multiple submitters
  • c.1116+72T>C Multiple submitters
  • c.1468+15A>C Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • c.1690+15C>T Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • c.973-104A>C Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • c.*135A>C Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Thr31Ile Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • c.1690+203dup Single submitter
  • c.1690+292C>A Single submitter
  • c.405+19del Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.405+19dup Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.406-185del Single submitter
  • c.606+1791G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.607-12del Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.607-3del Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.684+12del Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.684+265AAG[4] Single submitter
  • c.685-4del Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.831+224C>T Single submitter
  • c.832-3dup Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.832-4_832-3del Single submitter multiple acyl-CoA dehydrogenase deficiency

Benign/Likely benign 7

  • c.684+13A>C Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • c.832-3del Multiple submitters
  • p.Ala360= Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Asp511= Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Glu530= Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Leu127= Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Val604= Multiple submitters multiple acyl-CoA dehydrogenase deficiency

Likely benign 381

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1117-112A>G Multiple submitters
  • c.1468+10A>G Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • c.175+3A>G Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • c.175+98T>C Multiple submitters
  • c.176-237A>G Multiple submitters
  • c.34+146T>A Multiple submitters
  • c.34+266A>G Multiple submitters
  • c.34+57C>A Multiple submitters
  • c.34+7G>A Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • c.606+10GTTTT[2] Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • c.606+121A>G Multiple submitters
  • c.607-12dup Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • c.684+3_684+9dup Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Ala12= Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Ala226= Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Asp282= Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Gly209= Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Gly296= Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Gly564= Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.His588= Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Leu256= Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Leu448= Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Phe147= Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Pro483= Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Tyr271= Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • p.Val605= Multiple submitters multiple acyl-CoA dehydrogenase deficiency
  • c.1116+10C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1116+13A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1117-19T>G Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1117-20C>G Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1117-232G>A Single submitter
  • c.1117-284C>G Single submitter
  • c.1117-4T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1117-9T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1285+14G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1285+16G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1285+17T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1286-10T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1286-12T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1286-154C>T Single submitter
  • c.1286-15T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1286-16A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1286-20T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1286-258G>A Single submitter
  • c.1286-8A>T Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1468+10A>T Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1468+12_1468+13del Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1468+14G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1468+14G>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1468+16G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1468+18_1468+23dup Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1468+18dup Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1468+20G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1468+20G>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1468+7C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1468+8A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1468+9A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1469-12A>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1469-17C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1469-18C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1469-19T>G Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1469-4dup Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1469-4G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1469-6_1469-4del Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1469-7G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1469-7G>T Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1469-8T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1690+14T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1690+16T>A Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1690+18T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1690+203del Single submitter
  • c.1690+20C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1690+9T>G Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1691-14_1691-9del Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1691-15_1691-12del Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1691-15A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1691-15A>T Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1691-18T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1691-250A>G Single submitter
  • c.1691-300T>C Single submitter
  • c.1691-4T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1691-7T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1691-8_1691-2dup Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.1691-9A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.175+15G>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.175+18T>A Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.175+19A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.175+206dup Single submitter
  • c.175+20C>G Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.176-19G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.176-19G>T Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.176-20A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.176-4C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.176-5C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.176-7C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.34+11A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.34+16C>A Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.34+17G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.35-11T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.35-15G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.35-16C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.35-18T>A Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.35-20T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.35-4G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.35-6G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.35-6G>T Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.35-7T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.35-8T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.405+118del Single submitter
  • c.405+118dup Single submitter
  • c.405+11T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.405+13G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.405+13G>T Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.405+173G>A Single submitter
  • c.406-13_406-11del Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.406-185dup Single submitter
  • c.406-19T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.406-20T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.406-5T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.487+13G>T Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.487+14A>T Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.487+15A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.487+15A>T Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.487+20C>A Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.487+50G>A Single submitter
  • c.487+8A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.487+8A>T Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.487+9T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.488-12A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.488-17T>A Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.488-18T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.606+10G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.606+13T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.606+14T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.606+18T>G Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.607-12T>A Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.607-15T>A Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.607-20_607-19del Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.607-289G>A Single submitter
  • c.607-7T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.607-8_607-7del Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.607-9C>A Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.684+11T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.684+19T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.684+20dup Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.684+265AAG[5] Single submitter
  • c.684+266_684+267insAGAA Single submitter
  • c.684+7C>G Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.685-15G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.685-18C>A Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.685-203A>G Single submitter
  • c.685-8C>G Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.685-9G>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.831+18T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.831+19G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.831+294G>A Single submitter
  • c.831+8G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.832-10_832-9insC Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.832-13T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.832-15T>A Single submitter
  • c.832-16C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.832-19T>G Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.832-4_832-3dup Single submitter
  • c.832-4_832-3insA Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.832-5T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.832-8T>A Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.972+10A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.972+11T>A Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.972+11T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.972+16A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.972+16A>T Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.972+7T>A Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.972+8A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.972+9T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.973-13G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.973-14T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.973-16A>C Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.973-17_973-16del Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.973-17A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.973-19A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.973-9A>T Single submitter multiple acyl-CoA dehydrogenase deficiency
  • c.-41CCT[1] Single submitter
  • p.Ala18= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Ala187= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Ala189= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Ala201= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Ala215= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Ala229= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Ala30= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Ala363= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Ala365= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Ala403= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Ala411= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Ala535= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Ala84= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Arg263= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Arg290= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Arg342= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Arg350= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Arg364= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Arg455= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Arg495= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Arg540= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Arg559= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Arg578= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Asn168= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Asn217= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Asn313= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Asn441= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Asn528= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Asn547= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Asn600= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Asn602= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Asn61= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Asp208= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Asp218= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Asp224= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Asp261= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Asp501= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Asp532= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Asp541= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Asp542= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Asp554= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Asp575= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Asp97= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Cys502= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Cys586= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Cys589= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Gln186= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Gln269= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Gln513= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Gln533= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Gln558= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Gln89= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Glu104= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Glu133= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Glu246= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Glu314= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Glu436= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Glu572= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Glu95= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Gly110= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Gly116= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Gly170= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Gly184= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Gly213= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Gly220= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Gly225= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Gly250= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Gly289= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Gly306= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Gly322= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Gly326= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Gly369= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Gly390= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Gly399= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Gly463= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Gly466= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Gly467= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Gly472= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Gly555= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Gly616= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.His169= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.His17= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.His178= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.His238= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.His293= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.His302= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.His311= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.His401= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.His431= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.His459= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.His531= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.His94= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Ile214= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Ile385= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Ile514= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Ile73= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Leu102= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Leu114= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Leu164= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Leu2= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Leu235= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Leu237= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Leu26= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Leu275= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Leu278= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Leu28= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Leu309= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Leu312= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Leu318= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Leu323= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Leu327= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Leu334= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Leu366= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Leu384= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Leu418= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Leu423= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Leu430= Single submitter multiple acyl-CoA dehydrogenase deficiency
  • p.Leu439= Single submitter multiple acyl-CoA dehydrogenase deficiency

Uncertain significance 286