ETFA — 575 ClinVar variants
All ClinVar germline ETFA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 119 flagged for review →
18 Pathogenic · 15 Pathogenic/Likely pathogenic · 50 Likely pathogenic · 22 Conflicting · 36 Benign · 6 Benign/Likely benign · 289 Likely benign · 139 Uncertain significance
Full ETFA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 119
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ETFA p.Arg249Cys
Conflicting
Single submitter
Glutaric acidemia type 2A
-
ETFA p.Pro7Leu
Conflicting
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Val165Ala
Conflicting
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Val194Met
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 61
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ETFA p.Ala112Ser
Uncertain significance
Multiple submitters
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Arg169Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ETFA p.Arg223Gln
Uncertain significance
Multiple submitters
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Arg249His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ETFA p.Asp312Asn
Uncertain significance
Multiple submitters
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Gln9Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ETFA p.Glu50Lys
Uncertain significance
Multiple submitters
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Gly57Ala
Uncertain significance
Multiple submitters
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Leu88Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ETFA p.Phe144Ser
Uncertain significance
Multiple submitters
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Ala153Pro
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Ala244Val
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Ala271Thr
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Ala305Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ETFA p.Ala311Val
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Ala4Val
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Arg169His
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Arg169Leu
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Arg209Gln
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Arg209Gly
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Asn259Asp
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Asp174Ala
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Asp253Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ETFA p.Gln240Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- ETFA p.Glu161Asp Uncertain significance Single submitter
-
ETFA p.Glu198Gln
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Glu211Lys
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Glu27Lys
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
- ETFA p.Gly116Glu Uncertain significance Single submitter
-
ETFA p.Gly222Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ETFA p.Gly228Arg
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Gly289Ala
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Gly57Val
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.His28Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ETFA p.Ile108Asn
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Ile108Thr
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Ile269Leu
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Ile280Leu
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Ile307Val
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Leu154Pro
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Lys139Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ETFA p.Lys291Gln
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Lys294Glu
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Met261Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ETFA p.Met290Arg
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Phe231Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ETFA p.Pro306Leu
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Pro89Ser
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Ser21Arg
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Thr58Ser
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Thr99Ala
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Tyr275Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- ETFA p.Tyr275Ser Uncertain significance Single submitter
-
ETFA p.Val316Leu
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Val316Phe
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
- ETFA p.Val63Leu Uncertain significance Single submitter
-
ETFA p.Ala305Thr
Uncertain significance
No assertion criteria
Glutaric acidemia type 2A
-
ETFA p.Asp292Glu
Uncertain significance
No assertion criteria
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Gly282Arg
Uncertain significance
No assertion criteria
Glutaric acidemia type 2A
-
ETFA p.Val217Leu
Uncertain significance
No assertion criteria
Glutaric acidemia type 2A
-
ETFA p.Val263Gly
Uncertain significance
No assertion criteria
Glutaric acidemia type 2A
Predictors split 54
The independent predictors disagree with each other — read with care.
-
ETFA p.Ala243Gly
Uncertain significance
Multiple submitters
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Ala311Ser
Uncertain significance
Multiple submitters
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Asp174Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ETFA p.Asp66Gly
Uncertain significance
Multiple submitters
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Glu186Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ETFA p.Gly181Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ETFA p.Gly72Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ETFA p.Leu127Phe
Uncertain significance
Multiple submitters
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Thr156Ile
Uncertain significance
Multiple submitters
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Val323Ile
Uncertain significance
Multiple submitters
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Ala110Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ETFA p.Ala112Thr
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Ala130Thr
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
- ETFA p.Ala13Thr Uncertain significance Single submitter
-
ETFA p.Ala26Val
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Ala34Thr
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Arg11Gln
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Arg18Gln
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Arg3Pro
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Arg46Cys
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Arg46His
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
- ETFA p.Asn259Ser Uncertain significance Single submitter
-
ETFA p.Asn30Asp
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Asp236Tyr
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Asp239Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ETFA p.Asp82Val
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Cys60Gly
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Gln100His
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Glu161Lys
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Glu27Asp
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Glu325Gly
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Glu325Lys
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Gly228Glu
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.His81Pro
Conflicting
Single submitter
multiple acyl-CoA dehydrogenase deficiency
- ETFA p.Ile108Val Uncertain significance Single submitter
-
ETFA p.Ile135Met
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Ile148Val
Conflicting
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Ile276Leu
Conflicting
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Lys187Arg
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Lys332Glu
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
- ETFA p.Met261Val Uncertain significance Single submitter
-
ETFA p.Phe115Leu
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Pro131Leu
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Pro258Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ETFA p.Pro35Arg
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Thr178Arg
Conflicting
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Thr327Asn
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Val123Ile
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
- ETFA p.Val245Ile Uncertain significance Single submitter
-
ETFA p.Val55Ile
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Arg46Leu
Uncertain significance
No assertion criteria
Glutaric acidemia type 2A
-
ETFA p.Ile73Thr
Uncertain significance
No assertion criteria
multiple acyl-CoA dehydrogenase deficiency
-
ETFA p.Tyr235His
Uncertain significance
No assertion criteria
ETFA-related disorder
-
ETFA p.Val257Ile
Uncertain significance
No assertion criteria
Glutaric acidemia type 2A
All ETFA variants
Pathogenic 18
- p.Gln9fs Multiple submitters Glutaric acidemia type 2A
- p.Met1Val Multiple submitters Glutaric acidemia type 2A
- p.Thr266Met Multiple submitters Glutaric acidemia type 2A
- c.563-1G>A Single submitter
- p.Ala124fs Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Ala13fs Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Asn104fs Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Asp160fs Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Cys155fs Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Gln265Ter Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Glu186Ter Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Glu198fs Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Ile96fs Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Lys187fs Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Ser167fs Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Thr143fs Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Trp199Ter Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.*27_*30del No assertion criteria multiple acyl-CoA dehydrogenase deficiency
Pathogenic/Likely pathogenic 15
- p.Arg18Ter Multiple submitters Glutaric acidemia type 2A
- p.Arg209fs Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- p.Arg209Ter Multiple submitters Glutaric acidemia type 2A
- p.Arg223Ter Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- p.Gln100fs Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- p.Gly279fs Multiple submitters Glutaric acidemia type 2A
- p.His107fs Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- p.Ile108fs Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- p.Leu67_Cys68insTer Multiple submitters Glutaric acidemia type 2A
- p.Leu95fs Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- p.Lys232Ter Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- p.Lys59fs Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- p.Met1Ile Multiple submitters Fetal anomalies with a likely genetic cause
- p.Ser15Ter Multiple submitters Glutaric acidemia type 2A
- p.Val157Gly Multiple submitters multiple acyl-CoA dehydrogenase deficiency
Likely pathogenic 50
- c.186+1G>A Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- c.39+1G>A Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- c.451+1G>A Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- c.452-2A>G Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- c.658_664+3del Multiple submitters Glutaric acidemia type 2A
- c.665-1G>A Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- p.Ala125fs Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- p.Arg122Lys Multiple submitters Glutaric acidemia type 2A
- p.Gln65Ter Multiple submitters Glutaric acidemia type 2A
- p.Gly116Arg Multiple submitters Glutaric acidemia type 2A
- c.268+1G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.268+1G>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.269-2A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.351+1G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.351+2T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.352-1G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.352-2A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.37_39+1del Single submitter Glutaric acidemia type 2A
- c.39+1G>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.451+1G>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.562+1G>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.664+1_664+2del Single submitter Glutaric acidemia type 2A
- c.664+1G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.664+2dup Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.734-1_744del Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.734-2A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.817-2A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.883-1_885del Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.964-1G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.-64_39+1del Single submitter Glutaric acidemia type 2A
- p.Asn230fs Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Cys155Ter Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Gln240fs Single submitter Glutaric acidemia type 2A
- p.Gln262Ter Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Gln80Ter Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Glu211_Thr213del Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Glu211fs Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Gly116Val Single submitter Glutaric acidemia type 2A
- p.Gly86fs Single submitter Glutaric acidemia type 2A
- p.Leu212Pro Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Lys126fs Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Lys232fs Single submitter Glutaric acidemia type 2A
- p.Phe173fs Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Pro141fs Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Pro89fs Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Thr171fs Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Val219fs Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Val76fs Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Arg3Ter No assertion criteria multiple acyl-CoA dehydrogenase deficiency
- p.Thr295del No assertion criteria multiple acyl-CoA dehydrogenase deficiency
Conflicting classifications of pathogenicity 22
- c.186+7A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.351+12G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.882+10C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.882+5T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.963+1del Single submitter Glutaric acidemia type 2A
- c.-42C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Ala26= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Arg122= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Arg249Cys Single submitter Glutaric acidemia type 2A ⚠
- p.Gln240= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.His81Pro Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Ile148Val Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Ile276Leu Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Met1_Ala6del Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Met1Thr Single submitter Glutaric acidemia type 2A
- p.Phe2= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Pro7Leu Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Thr178Arg Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Thr22= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Val165Ala Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Val194Met Single submitter Inborn genetic diseases ⚠
- p.Val270del Single submitter Glutaric acidemia type 2A
Benign 36
- c.39+12C>G Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- c.733+38T>C Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- c.734-20C>A Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- c.817-32A>G Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- c.882+54G>T Multiple submitters
- c.-199G>A Multiple submitters
- c.*216A>T Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- c.*268A>G Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- c.186+155G>A Single submitter
- c.351+83dup Single submitter
- c.352-241G>A Single submitter
- c.352-261G>A Single submitter
- c.39+80del Single submitter
- c.40-19del Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.40-19dup Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.40-20_40-19dup Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.40-244C>T Single submitter
- c.40-269_40-266del Single submitter
- c.40-269A>G Single submitter
- c.40-50del Single submitter
- c.40-66_40-65dup Single submitter
- c.40-66dup Single submitter
- c.452-175G>A Single submitter
- c.452-268C>T Single submitter
- c.665-17del Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.665-17dup Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.734-9del Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.817-3173C>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.817-8del Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.883-76_883-75insGGTAA Single submitter
- c.883-77_883-76insGTAAG Single submitter
- c.963+296A>G Single submitter
- c.964-266_964-263dup Single submitter
- c.964-266_964-264dup Single submitter
- c.964-266_964-265dup Single submitter
- c.964-266dup Single submitter
Benign/Likely benign 6
- c.186+16G>T Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- c.351+17T>C Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- c.451+14G>A Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- c.562+11A>T Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- c.964-20C>G Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- p.Thr171Ile Multiple submitters multiple acyl-CoA dehydrogenase deficiency
Likely benign 289
- c.39+31G>C Multiple submitters
- c.39+85C>G Multiple submitters
- c.451+17G>T Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- c.452-11del Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- c.562+104A>C Multiple submitters
- c.733+113G>A Multiple submitters
- c.816+227A>G Multiple submitters
- c.817-12C>T Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- c.817-85A>T Multiple submitters
- c.963+208A>G Multiple submitters
- c.-71T>C Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- p.Gly180= Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- p.Pro131= Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- c.186+7A>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.186+8A>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.186+9T>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.186+9T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.187-13C>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.187-14T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.187-17T>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.187-18C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.187-4A>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.268+11C>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.268+11C>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.268+12C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.268+14G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.268+15T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.268+17G>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.268+18A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.269-15G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.269-15G>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.269-17A>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.269-19A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.269-5C>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.269-5C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.351+10T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.351+14G>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.351+18G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.351+20G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.351+8G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.351+8G>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.351+9G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.352-16C>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.352-19C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.352-7C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.352-8G>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.39+11A>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.39+13T>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.39+14G>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.39+17A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.39+18del Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.39+19G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.39+234G>A Single submitter
- c.39+7C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.39+8C>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.39+8C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.39+9G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.39+9G>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.40-10C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.40-16T>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.40-17_40-8del Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.40-17C>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.40-19T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.40-21_40-18dup Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.40-21_40-19dup Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.40-45G>C Single submitter
- c.40-51_40-50del Single submitter
- c.40-8C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.451+11A>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.451+12A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.451+14_451+17del Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.451+15A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.451+16A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.451+19T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.451+253A>G Single submitter
- c.451+287T>C Single submitter
- c.452-12del Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.452-13T>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.452-16A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.452-17T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.452-212C>T Single submitter
- c.452-7G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.452-7G>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.452-9A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.562+100T>C Single submitter
- c.562+10C>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.562+11A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.562+13T>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.562+15G>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.562+16G>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.562+18G>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.562+19T>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.562+31_562+34del Single submitter
- c.562+8T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.562+8T>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.563-11A>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.563-12T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.563-4G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.563-5T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.563-6A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.563-8G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.563-9T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.664+16A>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.664+16A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.664+20T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.664+27T>A Single submitter
- c.664+58del Single submitter
- c.664+8A>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.665-12T>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.665-13C>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.665-14T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.665-15A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.665-16dup Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.665-17T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.665-18T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.665-19T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.665-4T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.733+10T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.733+16T>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.733+16T>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.733+18A>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.733+250T>C Single submitter
- c.733+8T>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.733+8T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.733+9A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.734-107A>G Single submitter
- c.734-10T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.734-11T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.734-17A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.734-8C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.816+13A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.816+8T>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.816+9T>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.817-12_817-11del Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.817-144_817-141del Single submitter
- c.817-15C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.817-16A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.817-301T>C Single submitter
- c.817-5T>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.817-7A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.817-7A>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.817-8T>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.817-9T>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.882+14A>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.882+15G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.882+20del Single submitter
- c.882+7G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.882+7G>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.882+7G>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.882+8T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.882+9A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.883-10T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.883-14T>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.883-17_883-16del Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.883-18T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.883-18T>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.883-19C>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.883-269T>A Single submitter
- c.883-4A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.883-5C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.883-6T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.883-9A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.883-9dup Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.963+14G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.963+14G>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.963+17A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.963+260C>T Single submitter
- c.963+8G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.963+9del Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.964-10T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.964-18T>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.964-20C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.964-266_964-262dup Single submitter
- c.964-4G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.964-4G>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.-24G>T Single submitter
- c.-31T>C Single submitter
- c.-48C>T Single submitter
- p.Ala112= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Ala114= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Ala124= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Ala130= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Ala183= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Ala188= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Ala250= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Ala271= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Ala277= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Ala288= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Ala317= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Ala5= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Ala71= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Ala74= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Ala98= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Arg11= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Arg12= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Arg146= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Arg18= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Arg223= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Asn118= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Asn152= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Asp142= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Asp201= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Asp253= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Asp260= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Asp61= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Gln262= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Gln309= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Gln80= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Glu128= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Glu186= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Glu198= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Glu229= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Glu27= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Glu273= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Glu91= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Gly116= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Gly255= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Gly279= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Gly289= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Gly314= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Gly8= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.His107= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.His28= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Ile108= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Ile315= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Ile329Leu Single submitter
- p.Ile96= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Leu10= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Leu120= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Leu127= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Leu154= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Leu154Val Single submitter Inborn genetic diseases
- p.Leu17= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Leu23= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Leu234= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Leu237= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Leu241= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Leu274= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Leu319= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Leu33= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Leu330= Single submitter
- p.Leu47= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Leu67= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Leu87= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Leu88= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Leu92= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Leu95= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Lys101= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Lys226= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Lys232= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Phe115= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Phe320= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Pro121= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Pro141= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Pro193= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Pro210= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Pro303= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Pro324= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Pro7= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Pro94= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Ser197= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Ser220= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Ser52= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Thr143= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Thr147= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Thr156= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Thr171= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Thr266= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Thr327= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Thr40= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Thr42= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Thr99= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Tyr313= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Val123= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Val145= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Val157= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Val163= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Val165= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Val218= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Val219= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Val257= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Val270= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Val297= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Val51= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Val55= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Val63= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Val70= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Val76= Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.-8C>T No assertion criteria ETFA-related disorder
Uncertain significance 139
- c.-40G>A Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- c.*46C>T Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- p.Ala112Ser Multiple submitters multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Ala13= Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- p.Ala243Gly Multiple submitters multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Ala311Ser Multiple submitters multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Arg169Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg223Gln Multiple submitters multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Arg249His Multiple submitters Inborn genetic diseases ⚠
- p.Asp174Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asp312Asn Multiple submitters multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Asp66Gly Multiple submitters multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Gln9Arg Multiple submitters Inborn genetic diseases ⚠
- p.Glu186Gly Multiple submitters Inborn genetic diseases ⚠
- p.Glu50Lys Multiple submitters multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Gly181Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly57Ala Multiple submitters multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Gly72Asp Multiple submitters Inborn genetic diseases ⚠
- p.Leu127Phe Multiple submitters multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Leu88Pro Multiple submitters Inborn genetic diseases ⚠
- p.Phe144Ser Multiple submitters multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Thr156Ile Multiple submitters multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Val323Ile Multiple submitters multiple acyl-CoA dehydrogenase deficiency ⚠
- c.186+5G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.187-3T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.268+3G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.269-8A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.817-4611T>C Single submitter
- c.882+3A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.882+6T>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.-56C>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.-59C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.-71T>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.-7G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.*55C>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.*99G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Ala110Ser Single submitter Inborn genetic diseases ⚠
- p.Ala112Thr Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Ala130Thr Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Ala13Thr Single submitter ⚠
- p.Ala153Pro Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Ala244Val Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Ala26Val Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Ala271Thr Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Ala305Val Single submitter Inborn genetic diseases ⚠
- p.Ala311Val Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Ala34Thr Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Ala4Val Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Arg11Gln Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Arg169His Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Arg169Leu Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Arg18Gln Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Arg209Gln Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Arg209Gly Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Arg3Pro Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Arg46Cys Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Arg46His Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Asn259Asp Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Asn259Ser Single submitter ⚠
- p.Asn30Asp Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Asp174Ala Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Asp236Tyr Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Asp239Asn Single submitter Inborn genetic diseases ⚠
- p.Asp253Val Single submitter Inborn genetic diseases ⚠
- p.Asp82Val Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Cys60Gly Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Gln100His Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Gln240Lys Single submitter Inborn genetic diseases ⚠
- p.Glu161Asp Single submitter ⚠
- p.Glu161Lys Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Glu198Gln Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Glu211Lys Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Glu27Asp Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Glu27Lys Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Glu325Gly Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Glu325Lys Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Gly116Glu Single submitter ⚠
- p.Gly222Val Single submitter Inborn genetic diseases ⚠
- p.Gly228Arg Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Gly228Glu Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Gly289Ala Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Gly57Val Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.His28Arg Single submitter Inborn genetic diseases ⚠
- p.Ile108Asn Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Ile108Thr Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Ile108Val Single submitter ⚠
- p.Ile135Met Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Ile269Leu Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Ile280Leu Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Ile307Val Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Leu154Pro Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Lys139Glu Single submitter Inborn genetic diseases ⚠
- p.Lys187Arg Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Lys291Gln Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Lys294Glu Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Lys332Glu Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Met261Thr Single submitter Inborn genetic diseases ⚠
- p.Met261Val Single submitter ⚠
- p.Met290Arg Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Phe115Leu Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Phe231Leu Single submitter Inborn genetic diseases ⚠
- p.Pro131Leu Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Pro258Ala Single submitter Inborn genetic diseases ⚠
- p.Pro306Leu Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Pro35Arg Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Pro89Ser Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Ser21Arg Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Ter334Leu Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Ter334MetextTer? Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Thr327Asn Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Thr58Ser Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Thr99Ala Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Tyr275Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr275Ser Single submitter ⚠
- p.Val123Ile Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Val24_Leu47del Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Val245Ile Single submitter ⚠
- p.Val316Leu Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Val316Phe Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Val55Ile Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Val63Leu Single submitter ⚠
- c.40-3T>A No assertion criteria Glutaric acidemia type 2A
- c.451+3G>A No assertion criteria Glutaric acidemia type 2A
- c.883-3C>T No assertion criteria multiple acyl-CoA dehydrogenase deficiency
- c.964-1G>C No assertion criteria multiple acyl-CoA dehydrogenase deficiency
- c.-10A>G No assertion criteria Glutaric acidemia type 2A
- c.-9G>T No assertion criteria multiple acyl-CoA dehydrogenase deficiency
- p.Ala176= No assertion criteria Glutaric acidemia type 2A
- p.Ala305Thr No assertion criteria Glutaric acidemia type 2A ⚠
- p.Ala4= No assertion criteria Glutaric acidemia type 2A
- p.Arg46Leu No assertion criteria Glutaric acidemia type 2A ⚠
- p.Asp292Glu No assertion criteria multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Gln100= No assertion criteria Glutaric acidemia type 2A
- p.Gly282Arg No assertion criteria Glutaric acidemia type 2A ⚠
- p.Ile73Thr No assertion criteria multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Tyr235His No assertion criteria ETFA-related disorder ⚠
- p.Val217Leu No assertion criteria Glutaric acidemia type 2A ⚠
- p.Val257Ile No assertion criteria Glutaric acidemia type 2A ⚠
- p.Val263Gly No assertion criteria Glutaric acidemia type 2A ⚠