ACADM — 1017 ClinVar variants
All ClinVar germline ACADM variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 285 flagged for review →
91 Pathogenic · 111 Pathogenic/Likely pathogenic · 147 Likely pathogenic · 65 Conflicting · 47 Benign · 11 Benign/Likely benign · 285 Likely benign · 260 Uncertain significance
Full ACADM gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 285
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 30
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
ACADM p.Ala218Gly
Pathogenic/Likely pathogenic
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Arg148Lys
Pathogenic/Likely pathogenic
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Arg29Gln
Likely pathogenic
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Arg29Leu
Pathogenic/Likely pathogenic
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Arg31His
Pathogenic/Likely pathogenic
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Arg348Cys
Pathogenic/Likely pathogenic
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Arg349Gln
Pathogenic/Likely pathogenic
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Arg53Cys
Pathogenic
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Arg80Gly
Pathogenic/Likely pathogenic
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Asp266Gly
Pathogenic/Likely pathogenic
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Glu253Lys
Pathogenic/Likely pathogenic
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Ile233Thr
Pathogenic/Likely pathogenic
Multiple submitters
hydrocephalus, nonsyndromic, autosomal recessive 2
-
ACADM p.Ile78Met
Pathogenic/Likely pathogenic
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Leu154Trp
Pathogenic/Likely pathogenic
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Lys197Glu
Likely pathogenic
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Met328Val
Pathogenic/Likely pathogenic
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Tyr352Cys
Pathogenic/Likely pathogenic
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Val289Ile
Likely pathogenic
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Ala359Thr
Likely pathogenic
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Arg148Ile
Pathogenic
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Asp208Tyr
Likely pathogenic
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Glu177Gly
Likely pathogenic
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Ile356Val
Likely pathogenic
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Ile78Val
Likely pathogenic
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Lys329Gln
Pathogenic
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Met328Thr
Likely pathogenic
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Met335Ile
Pathogenic
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Thr220Ser
Likely pathogenic
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Tyr114Cys
Likely pathogenic
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Tyr67Cys
Likely pathogenic
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
Predictors agree, ClinVar conflicts 25
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ACADM p.Ala218Asp
Conflicting
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Ala372Asp
Conflicting
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Arg31Cys
Conflicting
Single submitter
Inborn genetic diseases
-
ACADM p.Arg349Leu
Conflicting
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Arg413His
Conflicting
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Asn186Lys
Conflicting
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Asn239Lys
Conflicting
Single submitter
ACADM-related disorder
-
ACADM p.Asp168Ala
Conflicting
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Asp297Gly
Conflicting
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Cys116Gly
Conflicting
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Gly221Arg
Conflicting
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Gly241Ser
Conflicting
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Gly310Arg
Conflicting
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Gly402Asp
Conflicting
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Gly85Cys
Conflicting
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Gly99Val
Conflicting
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Ile416Thr
Conflicting
Single submitter
MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing newborn screening follow up
-
ACADM p.Leu107Ser
Conflicting
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Lys418Arg
Conflicting
Single submitter
Inborn genetic diseases
-
ACADM p.Phe222Leu
Conflicting
Single submitter
Inborn genetic diseases
-
ACADM p.Phe252Cys
Conflicting
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Thr220Ile
Conflicting
Single submitter
MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing newborn screening follow up
-
ACADM p.Thr403Ala
Conflicting
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Tyr352Asp
Conflicting
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Val373Ala
Conflicting
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
Predictors lean, ClinVar uncertain 103
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ACADM p.Ala340Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACADM p.Ala341Thr
Uncertain significance
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Arg248Thr
Uncertain significance
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Asn28Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACADM p.Gly129Trp
Uncertain significance
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Gly269Asp
Uncertain significance
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
- ACADM p.Ile231Thr Uncertain significance Multiple submitters
-
ACADM p.Ile364Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACADM p.Ile364Val
Uncertain significance
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
- ACADM p.Leu313Pro Uncertain significance Multiple submitters
-
ACADM p.Lys271Asn
Uncertain significance
Multiple submitters
ACADM-related disorder
-
ACADM p.Lys395Thr
Uncertain significance
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Met131Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACADM p.Met240Thr
Uncertain significance
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Thr42Ile
Uncertain significance
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
- ACADM p.Ala113Pro Uncertain significance Single submitter
- ACADM p.Ala157Thr Uncertain significance Single submitter
-
ACADM p.Ala170Asp
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Ala215Pro
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
- ACADM p.Ala341Val Uncertain significance Single submitter
-
ACADM p.Ala359Pro
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Arg7Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACADM p.Asn194Lys
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Asn261Lys
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Asn88Tyr
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Asp363Asn
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Cys156Trp
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Cys244Arg
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Gln242Arg
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
- ACADM p.Gln317Pro Uncertain significance Single submitter
- ACADM p.Glu237Gln Uncertain significance Single submitter
-
ACADM p.Gly115Glu
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Gly118Trp
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
- ACADM p.Gly166Cys Uncertain significance Single submitter
-
ACADM p.Gly249Glu
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Gly34Val
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Gly402Cys
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Gly402Val
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Gly4Val
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Gly97Ser
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Gly99Arg
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.His19Arg
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.His316Leu
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Ile134Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACADM p.Ile185Ser
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Ile192Met
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Ile399Met
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Ile406Ser
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Ile406Val
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Ile60Phe
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Leu128Val
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Leu296Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACADM p.Leu323Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- ACADM p.Lys189Thr Uncertain significance Single submitter
-
ACADM p.Lys217Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACADM p.Lys26Thr
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Lys358Arg
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Lys389Glu
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
- ACADM p.Lys395Ile Uncertain significance Single submitter
-
ACADM p.Lys69Arg
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Phe18Ser
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Phe219Cys
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Phe309Leu
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Phe39Cys
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Phe5Leu
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Pro163Thr
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Ser109Arg
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Ser127Pro
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Ser167Phe
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Ser404Leu
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
- ACADM p.Thr117Ile Uncertain significance Single submitter
-
ACADM p.Thr280Ser
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Thr42Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACADM p.Thr89Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACADM p.Thr89Pro
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Trp200Arg
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Tyr145His
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Tyr201Cys
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
- ACADM p.Tyr302Cys Uncertain significance Single submitter
- ACADM p.Tyr73Ser Uncertain significance Single submitter
-
ACADM p.Val11Ala
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Val251Ile
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
- ACADM p.Val257Met Uncertain significance Single submitter
-
ACADM p.Val262Asp
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Val289Phe
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Val373Leu
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Ala105Pro
Uncertain significance
No assertion criteria
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Ala273Val
Uncertain significance
No assertion criteria
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Ala354Val
Uncertain significance
No assertion criteria
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Gly267Val
Uncertain significance
No assertion criteria
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Gly287Val
Uncertain significance
No assertion criteria
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Gly377Val
Uncertain significance
No assertion criteria
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Gly71Asp
Uncertain significance
No assertion criteria
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Ile123Ser
Uncertain significance
No assertion criteria
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Leu128Phe
Uncertain significance
No assertion criteria
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Lys420Gln
Uncertain significance
No assertion criteria
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Met240Arg
Uncertain significance
No assertion criteria
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Phe277Val
Uncertain significance
No assertion criteria
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Pro132Ser
Uncertain significance
No assertion criteria
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Ser167Cys
Uncertain significance
No assertion criteria
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Thr247Ser
Uncertain significance
No assertion criteria
ACADM-related disorder
-
ACADM p.Val119Leu
Uncertain significance
No assertion criteria
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Val257Gly
Uncertain significance
No assertion criteria
medium chain acyl-CoA dehydrogenase deficiency
Predictors split 127
The independent predictors disagree with each other — read with care.
-
ACADM p.Ala136Val
Pathogenic/Likely pathogenic
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Ala165Thr
Likely pathogenic
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Ala170Ser
Uncertain significance
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Ala205Val
Pathogenic/Likely pathogenic
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Ala303Thr
Uncertain significance
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Ala341Gly
Uncertain significance
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Ala52Thr
Uncertain significance
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Arg206Cys
Pathogenic/Likely pathogenic
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Arg206His
Pathogenic/Likely pathogenic
Multiple submitters
Inborn genetic diseases
-
ACADM p.Asp104Gly
Likely pathogenic
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Gln44Arg
Uncertain significance
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Glu72Lys
Uncertain significance
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Glu93Lys
Uncertain significance
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Gly101Glu
Uncertain significance
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Gly4Arg
Uncertain significance
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Gly6Glu
Uncertain significance
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Ile135Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACADM p.Ile356Thr
Pathogenic
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Leu84Phe
Pathogenic/Likely pathogenic
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Lys259Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACADM p.Lys69Ile
Uncertain significance
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Met87Thr
Pathogenic/Likely pathogenic
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Pro209Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACADM p.Ser336Asn
Uncertain significance
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Tyr337Ser
Pathogenic/Likely pathogenic
Multiple submitters
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Tyr67His
Pathogenic/Likely pathogenic
Multiple submitters
Inborn genetic diseases
-
ACADM p.Val387Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACADM p.Ala176Ser
Conflicting
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Ala176Thr
Conflicting
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Ala218Thr
Likely pathogenic
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Ala276Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- ACADM p.Ala324Thr Uncertain significance Single submitter
-
ACADM p.Ala357Gly
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Ala369Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- ACADM p.Ala52Val Uncertain significance Single submitter
-
ACADM p.Ala64Val
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
- ACADM p.Ala81Ser Uncertain significance Single submitter
-
ACADM p.Arg17His
Conflicting
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Arg243Gln
Conflicting
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Arg294Gly
Pathogenic
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Arg348His
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Arg349Gly
Pathogenic
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Arg53His
Conflicting
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Asn126Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACADM p.Asn194Ser
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Asn366His
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Asp104Asn
Likely pathogenic
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Asp181Gly
Conflicting
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Asp297Glu
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Asp68Asn
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Gln232Glu
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Gln317Glu
Conflicting
Single submitter
Inborn genetic diseases
-
ACADM p.Gln338Glu
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
- ACADM p.Gln49Glu Uncertain significance Single submitter
-
ACADM p.Glu124Gly
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Glu152Gly
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Glu225Lys
Conflicting
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Glu40Asp
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
- ACADM p.Glu40Gln Conflicting Single submitter
-
ACADM p.Glu43Lys
Conflicting
Single submitter
ACADM-related disorder
-
ACADM p.Glu47Lys
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Glu59Asp
Likely pathogenic
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Gly118Ala
Likely pathogenic
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Gly234Ala
Likely pathogenic
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
- ACADM p.Gly377Ala Uncertain significance Single submitter
- ACADM p.Gly85Ser Likely pathogenic Single submitter
- ACADM p.Gly96Arg Uncertain significance Single submitter
-
ACADM p.His24Arg
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Ile123Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ACADM p.Ile172Val Uncertain significance Single submitter
-
ACADM p.Ile185Met
Conflicting
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Ile185Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACADM p.Ile223Val
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Ile250Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACADM p.Ile319Val
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Ile375Met
Conflicting
Single submitter
Inborn genetic diseases
- ACADM p.Ile396Val Uncertain significance Single submitter
-
ACADM p.Leu107Phe
Likely pathogenic
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Leu204Val
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Leu291Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACADM p.Leu368Ser
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Leu409Phe
Likely pathogenic
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
- ACADM p.Leu77Gln Uncertain significance Single submitter
-
ACADM p.Lys178Gln
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Lys395Arg
Conflicting
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Lys54Gln
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Met155Val
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
- ACADM p.Met328Ile Uncertain significance Single submitter
-
ACADM p.Met391Val
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Phe103Tyr
Conflicting
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Phe37Leu
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Phe48Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACADM p.Pro211Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- ACADM p.Pro211Ser Uncertain significance Single submitter
-
ACADM p.Pro258Leu
Conflicting
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Pro33Arg
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Pro386Ala
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Pro92Leu
Likely pathogenic
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Ser127Tyr
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Ser320Leu
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
- ACADM p.Ser38Arg Uncertain significance Single submitter
-
ACADM p.Thr174Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACADM p.Thr228Asn
Conflicting
Single submitter
ACADM-related disorder
-
ACADM p.Thr228Ile
Conflicting
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Thr300Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACADM p.Tyr353Asp
Uncertain significance
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Tyr397Cys
Likely pathogenic
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Val289Ala
Conflicting
Single submitter
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Val63Leu
Conflicting
Single submitter
Inborn genetic diseases
-
ACADM p.Ala157Ser
Uncertain significance
No assertion criteria
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Ala165Ser
Uncertain significance
No assertion criteria
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Ala365Thr
Uncertain significance
No assertion criteria
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Asn199Asp
Uncertain significance
No assertion criteria
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Asp210Val
Uncertain significance
No assertion criteria
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Gln120Arg
Uncertain significance
No assertion criteria
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Gln188Arg
Uncertain significance
No assertion criteria
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Gln44His
Uncertain significance
No assertion criteria
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Glu32Lys
Uncertain significance
No assertion criteria
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Gly171Cys
Uncertain significance
No assertion criteria
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Gly195Ala
Uncertain significance
No assertion criteria
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Ile135Phe
Uncertain significance
No assertion criteria
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Leu84Ile
Uncertain significance
No assertion criteria
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Lys301Arg
Uncertain significance
No assertion criteria
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Lys301Asn
Uncertain significance
No assertion criteria
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Pro214Ala
Uncertain significance
No assertion criteria
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Thr383Arg
Uncertain significance
No assertion criteria
medium chain acyl-CoA dehydrogenase deficiency
-
ACADM p.Val11Phe
Uncertain significance
No assertion criteria
medium chain acyl-CoA dehydrogenase deficiency
All ACADM variants
Pathogenic 91
- c.216+1G>A Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.216+2T>C Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.216+2T>G Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.387+1G>A Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.388-19T>A Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.599+2T>C Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Ala273fs Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Ala372fs Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Arg243Ter Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Arg29Ter Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Arg349Ter Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Arg53Cys Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly195Arg Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Gly265_Ala268delinsValTer Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Gly362Glu Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Ile356Thr Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ile78Thr Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Leu203Ter Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Lys144fs Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Met326Thr Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Ser320fs Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Thr150fs Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Trp82fs Multiple submitters MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing newborn screening follow up
- c.217-1G>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.30+1G>T Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.30+2T>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.468+2T>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.468+2T>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.469-1G>A Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.599+2T>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.708+2T>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.709-2A>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.849+1G>A Single submitter
- c.850-1G>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ala113Asp Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ala218fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ala268fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ala276fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ala288fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ala341fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Arg148Ile Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Arg235Ter Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Arg248fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Arg294Gly Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Arg349Gly Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Arg392Lys Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Arg57fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Asn126fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Asp168Gly Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Asp181fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Asp68fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Cys159fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Gln232Ter Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Gln293fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Glu111fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Glu111Ter Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Glu162Ter Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Glu325fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Glu401fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Glu83fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Gly180_Asp181insTer Single submitter
- p.Gly267fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ile396fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ile410del Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Leu35Ter Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Leu368Ter Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Lys142fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Lys173fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Lys236Ter Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Lys279Ter Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Lys301Ter Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Lys329Gln Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Lys389fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Met1Arg Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Met1Leu Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Met335Ile Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Phe55fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Phe55Leu Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Pro132His Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Pro92fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Thr174fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Thr25fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Trp191Ter Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Tyr114Ter Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Tyr337Ter Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Tyr353fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Tyr397fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Tyr397Ser Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Val330fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Val373Met Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Gly115_Cys116del No assertion criteria medium chain acyl-CoA dehydrogenase deficiency
Pathogenic/Likely pathogenic 111
- c.1194+1G>A Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.216+1G>T Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.217-1G>A Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.217-2A>G Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.287-1G>C Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.287-2A>G Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.30+1G>C Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.30+2T>C Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.387+2T>C Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.468+1G>A Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.599+1G>A Multiple submitters MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing newborn screening follow up
- c.600-18G>A Multiple submitters Inborn genetic diseases
- c.708+1G>A Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.709-1G>A Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.849+2T>C Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.850-2A>G Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.946-2A>C Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.946-6T>G Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Ala136Val Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala205Pro Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Ala205Val Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala218Gly Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala369fs Multiple submitters MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing newborn screening follow up
- p.Arg148Lys Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Arg206Cys Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Arg206His Multiple submitters Inborn genetic diseases ⚠
- p.Arg206Leu Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Arg248Gly Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Arg281Ser Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Arg281Thr Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Arg294fs Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Arg294Thr Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Arg29Leu Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Arg31His Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Arg348Cys Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Arg348fs Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Arg349Gln Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Arg408fs Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Arg413Cys Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Arg413Ser Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Arg80Gly Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Asn194Asp Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Asp266Gly Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Asp345Val Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Cys116Tyr Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Cys8Ter Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Gln23Ter Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Gln338Ter Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Gln374Ter Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Gln44Ter Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Gln45Arg Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Glu111Lys Multiple submitters MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing newborn screening follow up
- p.Glu253Lys Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Glu260fs Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Glu384Ter Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Gly115fs Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Gly267Arg Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Gly267Ter Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Gly310fs Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Gly347Val Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Gly85Arg Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Ile108fs Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Ile135del Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Ile185Thr Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Ile223Thr Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Ile233Thr Multiple submitters hydrocephalus, nonsyndromic, autosomal recessive 2 ⚠
- p.Ile410Thr Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Ile78fs Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Ile78Met Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Leu128fs Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Leu146fs Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Leu154Trp Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Leu203Phe Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Leu409fs Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Leu84Phe Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Lys143fs Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Lys144Ter Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Lys179_Lys189del Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Lys236Asn Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Lys329Glu Multiple submitters MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing newborn screening follow up
- p.Met149Ile Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Met155Thr Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Met190fs Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Met1fs Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Met1Ile Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Met1Val Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Met328fs Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Met328Val Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Met87Thr Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Phe103fs Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Phe309fs Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Pro229fs Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Ser16fs Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Ser22Ter Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Ser245Leu Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Ser320Ter Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Ser38delinsArgIleTer Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Thr121Ile Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Thr351Ile Multiple submitters ACADM-related disorder
- p.Trp200Ter Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Tyr158Cys Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Tyr158His Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Tyr201fs Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Tyr201Ter Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Tyr337Ser Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Tyr352Cys Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Tyr352Ter Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Tyr397Asn Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Tyr67His Multiple submitters Inborn genetic diseases ⚠
- p.Tyr67Ter Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Val119fs Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
Likely pathogenic 147
- c.118+1G>T Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.1194+1dup Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.1194+2T>G Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.217-1del Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.30+4A>G Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.31-1G>A Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.31-2A>G Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.388-1G>A Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.469-2A>G Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.600-1G>A Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Ala165Thr Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala324Pro Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Ala56Pro Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Arg29Gln Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Arg413fs Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Asp104Gly Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Glu40Ter Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Ile375Thr Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Leu390fs Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Lys197Glu Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Lys358Met Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Met274Val Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Pro132Arg Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Thr193Ala Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Val289Ile Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- c.118+10C>A Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.119-1G>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.1195-2A>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.217-2A>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.286+1G>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.287-1G>A Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.31-1G>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.31-9T>A Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.387+2T>A Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.468+2_468+3delTG Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.709-2A>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.945+1G>A Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ala113Thr Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ala157Val Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ala165Val Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ala198Thr Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ala218Thr Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala276Pro Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ala340Thr Single submitter ACADM-related disorder
- p.Ala359Thr Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala65fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ala81Thr Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Arg248Ser Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Arg29fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Arg334fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Arg349fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Arg53Gly Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Arg7fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Arg7Ter Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Asn186fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Asn366fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Asn94fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Asp104Asn Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Asp208Tyr Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Asp278fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Asp278Gly Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Asp345His Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Asp371Ter Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Asp393Asn Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Asp417fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Asp68Gly Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Cys106_Leu107insTer Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Cys116Ter Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Cys156fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Cys156Tyr Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Cys9Ter Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Gln141Ter Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Gln242Ter Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Gln317Leu Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Gln317Lys Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Gln405Ter Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Gln45His Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Glu152Ter Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Glu177Gly Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Glu237Ter Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Glu305Ter Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Glu315fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Glu331Ter Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Glu47Ter Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Glu59Asp Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Glu83Ter Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Gly118Ala Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly195Glu Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Gly196Glu Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Gly234Ala Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly249Arg Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Gly275fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Gly287Arg Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Gly34_Leu35insTer Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Gly377Ter Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Gly378Asp Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Gly4fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Gly71fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Gly85_Leu86insTer Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Gly85Asp Single submitter
- p.Gly85Ser Single submitter ⚠
- p.Ile135fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ile223fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ile356Val Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ile396Met Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ile78Val Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ile91fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Leu107fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Leu107Phe Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Leu203fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Leu238fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Leu409Phe Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Leu86fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Lys358fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Lys69Ter Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Met326Ile Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Met328Thr Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Phe103Leu Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Phe39fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Pro74Leu Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Pro92Leu Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ser167Pro Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ser346fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Thr220Ser Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Thr247Ala Single submitter
- p.Thr280Ile Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Thr403fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Trp82Ter Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Tyr114Cys Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Tyr145Cys Single submitter
- p.Tyr158Ter Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Tyr397Cys Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Tyr67Cys Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Tyr73Cys Single submitter
- p.Val119Asp Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Val283fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Val373Gly Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Val75fs Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.1195-1G>C No assertion criteria medium chain acyl-CoA dehydrogenase deficiency
- c.1195-2A>T No assertion criteria medium chain acyl-CoA dehydrogenase deficiency
- c.286+2T>G No assertion criteria medium chain acyl-CoA dehydrogenase deficiency
- c.387+1G>T No assertion criteria medium chain acyl-CoA dehydrogenase deficiency
- c.469-2A>C No assertion criteria medium chain acyl-CoA dehydrogenase deficiency
- c.600-2540_709-97dup No assertion criteria medium chain acyl-CoA dehydrogenase deficiency
- c.708+2T>G No assertion criteria medium chain acyl-CoA dehydrogenase deficiency
- p.Gln317Ter No assertion criteria medium chain acyl-CoA dehydrogenase deficiency
- p.Glu58fs No assertion criteria medium chain acyl-CoA dehydrogenase deficiency
Conflicting classifications of pathogenicity 65
- c.216+5G>T Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.287-10G>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.287-7dup Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.387+1del Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.388-14A>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.388-3T>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.388-5G>A Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.468+7A>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.599+3A>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.599+5G>A Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.709-13A>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ala176Ser Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala176Thr Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala218Asp Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala372Asp Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Arg17His Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Arg243Gln Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Arg31Cys Single submitter Inborn genetic diseases ⚠
- p.Arg349Leu Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Arg413His Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Arg53His Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Asn186Lys Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Asn194= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Asn239Lys Single submitter ACADM-related disorder ⚠
- p.Asp168Ala Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Asp181Gly Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Asp208= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Asp266= Single submitter Inborn genetic diseases
- p.Asp297Gly Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Cys116Gly Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gln317Glu Single submitter Inborn genetic diseases ⚠
- p.Glu225Lys Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Glu40Gln Single submitter ⚠
- p.Glu43Lys Single submitter ACADM-related disorder ⚠
- p.Gly221Arg Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly241Ser Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly310Arg Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly402Asp Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly85Cys Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly99Val Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.His19= Single submitter Inborn genetic diseases
- p.Ile185Met Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ile375Met Single submitter Inborn genetic diseases ⚠
- p.Ile416Thr Single submitter MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing newborn screening follow up ⚠
- p.Leu107Ser Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Leu332= Single submitter Inborn genetic diseases
- p.Lys144del Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Lys395Arg Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Lys418Arg Single submitter Inborn genetic diseases ⚠
- p.Phe103Tyr Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Phe222Leu Single submitter Inborn genetic diseases ⚠
- p.Phe252Cys Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Phe309= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Pro258Leu Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Pro92= Single submitter Inborn genetic diseases
- p.Thr220Ile Single submitter MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing newborn screening follow up ⚠
- p.Thr228Asn Single submitter ACADM-related disorder ⚠
- p.Thr228Ile Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Thr403Ala Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Thr70= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Tyr352Asp Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Tyr419Ter Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Val289Ala Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Val373Ala Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Val63Leu Single submitter Inborn genetic diseases ⚠
Benign 47
- c.118+133A>G Multiple submitters
- c.118+60del Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.119-20T>C Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.119-83A>C Multiple submitters
- c.1194+223A>G Multiple submitters
- c.216+10T>C Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.286+178G>A Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.30+66C>T Multiple submitters
- c.30+67C>G Multiple submitters
- c.31-32C>G Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.31-73T>C Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.387+32C>G Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.387+71G>A Multiple submitters
- c.469-22C>A Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.600-264A>G Multiple submitters
- c.945+288C>T Multiple submitters
- c.945+99T>C Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.-34T>C Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.-436C>G Multiple submitters
- c.-728C>G Multiple submitters
- c.*672T>C Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.*773G>A Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.*878T>C Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Thr117= Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Thr300= Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.118+114A>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.118+64del Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.119-296A>G Single submitter
- c.1194+23del Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.1194+23dup Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.1195-8dup Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.30+188C>A Single submitter
- c.387+91dup Single submitter
- c.388-307A>G Single submitter
- c.468+62C>T Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.468+71T>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.600-275AT[4] Single submitter
- c.849+153_849+156del Single submitter
- c.849+172del Single submitter
- c.849+205G>C Single submitter
- c.849+253A>T Single submitter
- c.850-270C>T Single submitter
- c.850-7del Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.945+239_945+240del Single submitter
- c.946-250G>C Single submitter
- c.946-323A>G Single submitter
- p.Cys159Trp Single submitter
Benign/Likely benign 11
- c.118+18T>A Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.1194+11A>G Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.31-37C>T Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.469-9A>G Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.-142C>G Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.-257G>A Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.-362T>C Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.-401G>A Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.*39G>A Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.*77C>T Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Ala226= Multiple submitters Inborn genetic diseases
Likely benign 285
- c.286+14A>G Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.286+44A>C Multiple submitters
- c.287-16C>T Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.287-223T>G Multiple submitters
- c.30+10A>G Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.387+40G>A Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.468+19C>T Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.600-6T>C Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.708+8A>C Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.850-79C>G Multiple submitters
- c.945+9A>G Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.946-9T>C Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Ala2= Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Ala215= Multiple submitters Inborn genetic diseases
- p.Ala359= Multiple submitters Inborn genetic diseases
- p.Arg7= Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Gln293= Multiple submitters Inborn genetic diseases
- p.Gly234= Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Leu128= Multiple submitters Inborn genetic diseases
- p.Leu204= Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Leu238= Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Phe219= Multiple submitters Inborn genetic diseases
- p.Phe252= Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Val169= Multiple submitters Inborn genetic diseases
- p.Val257= Multiple submitters Inborn genetic diseases
- c.118+10C>T Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.118+11G>A Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.118+17A>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.118+17A>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.119-10_119-8dup Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.119-16A>T Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.119-20T>A Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.119-5C>T Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.119-7C>A Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.119-7C>T Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.1194+13A>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.1194+16A>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.1194+17T>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.1194+19T>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.1194+9A>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.1195-14T>A Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.1195-14T>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.1195-15A>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.1195-17T>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.1195-21_1195-11del Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.1195-7del Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.216+10T>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.216+13A>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.216+19A>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.216+7A>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.217-10T>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.217-12T>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.217-12T>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.217-13C>A Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.217-16G>A Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.217-19T>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.217-4C>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.217-8T>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.286+190T>C Single submitter
- c.286+223C>T Single submitter
- c.286+224C>A Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.286+9_286+10insTTTTT Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.287-12T>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.287-5T>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.287-6C>T Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.30+11G>A Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.30+14C>T Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.30+17C>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.30+18G>A Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.30+18G>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.30+18G>T Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.30+20T>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.30+7G>A Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.30+8G>A Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.30+8G>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.30+9G>A Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.30+9G>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.31-12T>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.31-13G>A Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.31-16A>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.31-17A>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.31-19A>T Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.31-20A>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.31-4A>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.31-5T>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.31-8C>T Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.387+11T>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.388-19T>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.388-284C>T Single submitter
- c.388-4G>A Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.388-6C>T Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.468+20G>A Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.468+7_468+8del Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.468+9G>A Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.469-16T>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.469-19_469-18del Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.469-19T>A Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.469-20C>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.469-20C>T Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.469-4C>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.469-6T>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.469-8T>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.469-9A>T Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.599+11C>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.599+12A>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.599+16C>T Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.599+17A>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.599+17A>T Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.599+19C>T Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.599+8G>T Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.599+9T>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.600-12T>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.600-19C>T Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.600-8T>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.600-9A>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.600-9A>T Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.708+10T>A Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.708+11_708+14del Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.708+14T>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.708+15A>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.708+19A>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.708+299G>T Single submitter
- c.708+9T>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.709-13A>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.709-18T>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.709-19A>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.709-4T>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.709-7T>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.849+11T>A Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.849+12G>A Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.849+13G>A Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.849+13G>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.849+13G>T Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.849+14_849+15insCCAT Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.849+14G>A Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.849+153C>T Single submitter
- c.849+171_849+172del Single submitter
- c.849+18A>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.849+228A>G Single submitter
- c.849+9T>A Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.850-10A>T Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.850-14T>A Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.850-15A>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.850-16_850-8dup Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.850-16T>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.850-19T>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.850-3_850-2insTAAATACTTAAAAT Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.850-4C>T Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.850-6T>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.945+11T>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.945+13C>T Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.945+18dup Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.945+18T>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.945+19G>A Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.945+19G>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.945+20C>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.945+220dup Single submitter
- c.945+262G>A Single submitter
- c.945+301C>T Single submitter
- c.945+8T>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.945+9A>C Single submitter
- c.946-10T>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.946-13T>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.946-14_946-12del Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.946-14C>A Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.946-20T>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.946-4C>A Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.946-5T>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.946-6T>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.946-7A>T Single submitter
- p.Ala122= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ala136= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ala157= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ala165= Single submitter
- p.Ala205= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ala213= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ala218= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ala27= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ala285= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ala292= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ala318= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ala324= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ala327= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ala341= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ala357= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ala365= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ala394= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ala412= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ala50= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ala56= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ala64= Single submitter
- p.Ala65= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Arg206= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Arg21= Single submitter
- p.Arg235= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Arg243= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Arg306= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Arg339= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Arg392= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Arg413= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Arg57= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Asn186= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Asn261= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Asn379= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Asp139= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Asp227= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Asp246= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Asp254= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Cys116= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Cys159= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Cys244= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Gln242= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Gln30= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Gln367= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Gln407= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Gln44= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Glu152= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Glu182= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Glu237= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Glu343= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Glu40= Single submitter
- p.Glu414= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Glu93= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Gly101= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Gly147= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Gly166= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Gly221= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Gly347= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Gly36= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Gly362= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Gly4= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Gly402= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Gly71= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Gly97= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.His90= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ile133= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ile134= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ile231= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ile399= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ile416= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ile61= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Leu107= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Leu12= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Leu146= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Leu154= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Leu312= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Leu376= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Leu409= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Leu77= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Lys142= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Lys144= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Lys271= Single submitter Inborn genetic diseases
- p.Lys301= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Lys329= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Lys389= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Met87Ile Single submitter
- p.Phe18= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Phe55= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Pro132= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Pro153= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Pro163= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Pro209= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Pro229= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Pro33= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Pro62= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Pro76= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ser245= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ser320= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ter422= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Thr121= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Thr174= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Thr193= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Thr351= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Thr383= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Thr51= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Tyr158= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Tyr353= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Tyr385= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Val11= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Val160= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Val251= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Val330= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Val344= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Val387= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Val75= Single submitter medium chain acyl-CoA dehydrogenase deficiency
Uncertain significance 260
- c.388-12_388-10del Multiple submitters
- c.946-2dup Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- c.-17C>G Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Ala170Ser Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala303Thr Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala340Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala341Gly Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala341Thr Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala52Thr Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Arg248Thr Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Arg80del Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Asn28Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gln44Arg Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Glu72Lys Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Glu93Lys Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly101Glu Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly129Trp Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly269Asp Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly4Arg Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly6Glu Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ile135Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile231Thr Multiple submitters ⚠
- p.Ile364Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile364Val Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Leu313Pro Multiple submitters ⚠
- p.Lys259Glu Multiple submitters Inborn genetic diseases ⚠
- p.Lys271Asn Multiple submitters ACADM-related disorder ⚠
- p.Lys395Thr Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Lys69Ile Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Met131Ile Multiple submitters Inborn genetic diseases ⚠
- p.Met240Thr Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Pro209Ala Multiple submitters Inborn genetic diseases ⚠
- p.Ser336Asn Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ter422Leu Multiple submitters medium chain acyl-CoA dehydrogenase deficiency
- p.Thr42Ile Multiple submitters medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Val387Leu Multiple submitters Inborn genetic diseases ⚠
- c.119-12A>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.1194+3A>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.1194+6G>A Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.286+6C>T Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.287-29C>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.287-30A>G Single submitter
- c.30+5G>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.31-12T>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.31-19A>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.31-5T>A Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.468+11G>A Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.468+3_468+6del Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.468+3G>T Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.468+7A>T Single submitter
- c.600-8T>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.708+3A>G Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.708+6G>A Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.708+6G>T Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.849+5G>A Single submitter
- c.-29T>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.-440T>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.-78G>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.*133T>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.*177G>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.*284C>T Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.*427T>A Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.*5delA Single submitter medium chain acyl-CoA dehydrogenase deficiency
- c.*826T>C Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ala113Pro Single submitter ⚠
- p.Ala157Thr Single submitter ⚠
- p.Ala170Asp Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala215Pro Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala276Thr Single submitter Inborn genetic diseases ⚠
- p.Ala288_Val289insAla Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ala324Thr Single submitter ⚠
- p.Ala341Val Single submitter ⚠
- p.Ala357Gly Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala359Pro Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala369Thr Single submitter Inborn genetic diseases ⚠
- p.Ala52del Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Ala52Val Single submitter ⚠
- p.Ala64Val Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala81Ser Single submitter ⚠
- p.Arg17del Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Arg29= Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Arg294Ile Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Arg348His Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Arg7Gln Single submitter Inborn genetic diseases ⚠
- p.Asn126Ser Single submitter Inborn genetic diseases ⚠
- p.Asn194Lys Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Asn194Ser Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Asn261Lys Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Asn366His Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Asn88Tyr Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Asp297Glu Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Asp363Asn Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Asp68Asn Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Cys156Trp Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Cys244Arg Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gln232Glu Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gln242Arg Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gln317Pro Single submitter ⚠
- p.Gln338Glu Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gln49Glu Single submitter ⚠
- p.Glu110= Single submitter
- p.Glu124Gly Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Glu152Gly Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Glu237Gln Single submitter ⚠
- p.Glu298_Thr300delinsAla Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Glu40Asp Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Glu47Lys Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly115Glu Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly118Arg Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Gly118Trp Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly166Cys Single submitter ⚠
- p.Gly249Glu Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly34Val Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly377Ala Single submitter ⚠
- p.Gly402Cys Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly402Val Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly4Val Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly96Arg Single submitter ⚠
- p.Gly97Ser Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly99Arg Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.His19Arg Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.His24Arg Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.His316Leu Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ile123Val Single submitter Inborn genetic diseases ⚠
- p.Ile134Val Single submitter Inborn genetic diseases ⚠
- p.Ile172Val Single submitter ⚠
- p.Ile185Ser Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ile185Val Single submitter Inborn genetic diseases ⚠
- p.Ile192Met Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ile223Val Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ile250Leu Single submitter Inborn genetic diseases ⚠
- p.Ile319Val Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ile396Val Single submitter ⚠
- p.Ile399Met Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ile406Ser Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ile406Val Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ile60Phe Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ile91del Single submitter medium chain acyl-CoA dehydrogenase deficiency
- p.Leu128Val Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Leu204Val Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Leu291Val Single submitter Inborn genetic diseases ⚠
- p.Leu296Ser Single submitter Inborn genetic diseases ⚠
- p.Leu323Pro Single submitter Inborn genetic diseases ⚠
- p.Leu368Ser Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Leu77Gln Single submitter ⚠
- p.Lys178Gln Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Lys189Thr Single submitter ⚠
- p.Lys217Asn Single submitter Inborn genetic diseases ⚠
- p.Lys26Thr Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Lys358Arg Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Lys389Glu Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Lys395Ile Single submitter ⚠
- p.Lys54Gln Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Lys69Arg Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Met155Val Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Met328Ile Single submitter ⚠
- p.Met391Val Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Phe18Ser Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Phe219Cys Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Phe309Leu Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Phe37Leu Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Phe39Cys Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Phe48Leu Single submitter Inborn genetic diseases ⚠
- p.Phe5Leu Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Pro163Thr Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Pro211Ala Single submitter Inborn genetic diseases ⚠
- p.Pro211Ser Single submitter ⚠
- p.Pro33Arg Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Pro386Ala Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ser109Arg Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ser127Pro Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ser127Tyr Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ser167Phe Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ser320Leu Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ser38Arg Single submitter ⚠
- p.Ser404Leu Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Thr117Ile Single submitter ⚠
- p.Thr174Ala Single submitter Inborn genetic diseases ⚠
- p.Thr280Ser Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Thr300Ala Single submitter Inborn genetic diseases ⚠
- p.Thr42Ser Single submitter Inborn genetic diseases ⚠
- p.Thr89Ala Single submitter Inborn genetic diseases ⚠
- p.Thr89Pro Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Trp200Arg Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Tyr145His Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Tyr201Cys Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Tyr302Cys Single submitter ⚠
- p.Tyr353Asp Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Tyr73Ser Single submitter ⚠
- p.Val11Ala Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Val251Ile Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Val257Met Single submitter ⚠
- p.Val262Asp Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Val289Phe Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Val373Leu Single submitter medium chain acyl-CoA dehydrogenase deficiency ⚠
- c.1195-3C>A No assertion criteria medium chain acyl-CoA dehydrogenase deficiency
- c.1195-7C>A No assertion criteria medium chain acyl-CoA dehydrogenase deficiency
- c.1195-7C>G No assertion criteria medium chain acyl-CoA dehydrogenase deficiency
- c.1195-8T>C No assertion criteria medium chain acyl-CoA dehydrogenase deficiency
- c.287-6C>G No assertion criteria medium chain acyl-CoA dehydrogenase deficiency
- c.31-3C>T No assertion criteria medium chain acyl-CoA dehydrogenase deficiency
- c.31-6T>C No assertion criteria medium chain acyl-CoA dehydrogenase deficiency
- c.387+2dup No assertion criteria medium chain acyl-CoA dehydrogenase deficiency
- c.468+8T>C No assertion criteria medium chain acyl-CoA dehydrogenase deficiency
- c.709-5A>G No assertion criteria medium chain acyl-CoA dehydrogenase deficiency
- c.850-3_850-2insTAAAAT No assertion criteria medium chain acyl-CoA dehydrogenase deficiency
- c.850-8_850-7insTATCTTAAAATACTTAA No assertion criteria medium chain acyl-CoA dehydrogenase deficiency
- p.Ala105Pro No assertion criteria medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala113= No assertion criteria medium chain acyl-CoA dehydrogenase deficiency
- p.Ala157Ser No assertion criteria medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala165Ser No assertion criteria medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala198= No assertion criteria medium chain acyl-CoA dehydrogenase deficiency
- p.Ala273Val No assertion criteria medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala354Val No assertion criteria medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala365Thr No assertion criteria medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala372_Val373insAspAla No assertion criteria medium chain acyl-CoA dehydrogenase deficiency
- p.Asn138= No assertion criteria medium chain acyl-CoA dehydrogenase deficiency
- p.Asn199Asp No assertion criteria medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Asp210Val No assertion criteria medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Asp417del No assertion criteria medium chain acyl-CoA dehydrogenase deficiency
- p.Asp68del No assertion criteria medium chain acyl-CoA dehydrogenase deficiency
- p.Gln120Arg No assertion criteria medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gln188= No assertion criteria medium chain acyl-CoA dehydrogenase deficiency
- p.Gln188Arg No assertion criteria medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gln398= No assertion criteria medium chain acyl-CoA dehydrogenase deficiency
- p.Gln44His No assertion criteria medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Glu32Lys No assertion criteria medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly171_Ala176del No assertion criteria medium chain acyl-CoA dehydrogenase deficiency
- p.Gly171Cys No assertion criteria medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly180del No assertion criteria medium chain acyl-CoA dehydrogenase deficiency
- p.Gly195Ala No assertion criteria medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly267Val No assertion criteria medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly287Val No assertion criteria medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly377Val No assertion criteria medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly71Asp No assertion criteria medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ile123Ser No assertion criteria medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ile135Phe No assertion criteria medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ile78= No assertion criteria medium chain acyl-CoA dehydrogenase deficiency
- p.Leu128Phe No assertion criteria medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Leu84Ile No assertion criteria medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Lys175= No assertion criteria medium chain acyl-CoA dehydrogenase deficiency
- p.Lys26dup No assertion criteria medium chain acyl-CoA dehydrogenase deficiency
- p.Lys301Arg No assertion criteria medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Lys301Asn No assertion criteria medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Lys420Gln No assertion criteria medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Met240Arg No assertion criteria medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Phe277Val No assertion criteria medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Pro132_Ile133insSer No assertion criteria medium chain acyl-CoA dehydrogenase deficiency
- p.Pro132Ser No assertion criteria medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Pro214Ala No assertion criteria medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ser167Cys No assertion criteria medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ser346= No assertion criteria medium chain acyl-CoA dehydrogenase deficiency
- p.Ter422Glu No assertion criteria medium chain acyl-CoA dehydrogenase deficiency
- p.Thr247Ser No assertion criteria ACADM-related disorder ⚠
- p.Thr383Arg No assertion criteria medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Thr42= No assertion criteria medium chain acyl-CoA dehydrogenase deficiency
- p.Tyr67= No assertion criteria medium chain acyl-CoA dehydrogenase deficiency
- p.Val119Leu No assertion criteria medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Val11Phe No assertion criteria medium chain acyl-CoA dehydrogenase deficiency ⚠
- p.Val257Gly No assertion criteria medium chain acyl-CoA dehydrogenase deficiency ⚠