ACAD9 — 1115 ClinVar variants
All ClinVar germline ACAD9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 272 flagged for review →
38 Pathogenic · 41 Pathogenic/Likely pathogenic · 102 Likely pathogenic · 48 Conflicting · 73 Benign · 11 Benign/Likely benign · 540 Likely benign · 262 Uncertain significance
Full ACAD9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 272
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 7
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
ACAD9 p.Ala390Thr
Pathogenic/Likely pathogenic
Multiple submitters
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Arg266Gln
Pathogenic/Likely pathogenic
Multiple submitters
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Arg414Cys
Pathogenic/Likely pathogenic
Multiple submitters
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Arg518Cys
Pathogenic/Likely pathogenic
Multiple submitters
mitochondrial complex I deficiency
-
ACAD9 p.Arg518His
Pathogenic/Likely pathogenic
Multiple submitters
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Arg532Gln
Likely pathogenic
Multiple submitters
acyl-CoA dehydrogenase 9 deficiency
- ACAD9 p.Arg15Cys Likely pathogenic Single submitter
Predictors agree, ClinVar conflicts 20
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ACAD9 p.Arg532Leu
Conflicting
Single submitter
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Arg549Gln
Conflicting
Single submitter
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Arg555His
Conflicting
Single submitter
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Asn221Ser
Conflicting
Single submitter
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Asn26Ser
Conflicting
Single submitter
Inborn genetic diseases
-
ACAD9 p.Asn569Ser
Conflicting
Single submitter
Inborn genetic diseases
-
ACAD9 p.Asp95Ala
Conflicting
Single submitter
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Cys572Tyr
Conflicting
Single submitter
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Glu388Lys
Conflicting
Single submitter
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Gly149Ser
Conflicting
Single submitter
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Gly290Arg
Conflicting
Single submitter
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Gly402Arg
Conflicting
Single submitter
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Gly509Ser
Conflicting
Single submitter
Inborn genetic diseases
-
ACAD9 p.Ile556Thr
Conflicting
Single submitter
Inborn genetic diseases
-
ACAD9 p.Ile556Val
Conflicting
Single submitter
Inborn genetic diseases
-
ACAD9 p.Met381Val
Conflicting
Single submitter
acyl-CoA dehydrogenase 9 deficiency
- ACAD9 p.Thr243Arg Conflicting Single submitter
-
ACAD9 p.Val310Ile
Conflicting
Single submitter
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Val467Ile
Conflicting
Single submitter
Inborn genetic diseases
-
ACAD9 p.Val573Met
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 100
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ACAD9 p.Ala25Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ACAD9 p.Ala353Val Uncertain significance Multiple submitters
-
ACAD9 p.Ala495Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACAD9 p.Arg31Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACAD9 p.Arg420Cys
Uncertain significance
Multiple submitters
acyl-CoA dehydrogenase 9 deficiency
- ACAD9 p.Arg472Trp Uncertain significance Multiple submitters
- ACAD9 p.Arg555Cys Uncertain significance Multiple submitters
-
ACAD9 p.Arg609Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACAD9 p.Asn499Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACAD9 p.Asn569His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACAD9 p.Asp240Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACAD9 p.Glu378Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACAD9 p.Ile132Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACAD9 p.Ile421Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ACAD9 p.Leu180Phe Uncertain significance Multiple submitters
-
ACAD9 p.Leu300Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACAD9 p.Met134Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACAD9 p.Pro34Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACAD9 p.Ser185Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACAD9 p.Thr24Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ACAD9 p.Thr360Ser Uncertain significance Multiple submitters
- ACAD9 p.Thr428Ile Uncertain significance Multiple submitters
-
ACAD9 p.Val247Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACAD9 p.Ala144Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACAD9 p.Ala14Val
Uncertain significance
Single submitter
acyl-CoA dehydrogenase 9 deficiency
- ACAD9 p.Ala390Ser Uncertain significance Single submitter
-
ACAD9 p.Ala534Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ACAD9 p.Arg195Lys Uncertain significance Single submitter
- ACAD9 p.Arg304Gln Uncertain significance Single submitter
- ACAD9 p.Arg304Trp Uncertain significance Single submitter
-
ACAD9 p.Arg329Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACAD9 p.Arg472Gln
Uncertain significance
Single submitter
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Arg477Gly
Uncertain significance
Single submitter
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Arg549Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- ACAD9 p.Arg555Gly Uncertain significance Single submitter
- ACAD9 p.Arg555Leu Uncertain significance Single submitter
- ACAD9 p.Arg559His Uncertain significance Single submitter
- ACAD9 p.Asn579Lys Uncertain significance Single submitter
- ACAD9 p.Asp473Glu Uncertain significance Single submitter
- ACAD9 p.Asp496Ala Uncertain significance Single submitter
- ACAD9 p.Asp587Glu Uncertain significance Single submitter
- ACAD9 p.Gln146Lys Uncertain significance Single submitter
- ACAD9 p.Glu288Gln Uncertain significance Single submitter
- ACAD9 p.Glu357Asp Uncertain significance Single submitter
-
ACAD9 p.Glu357Lys
Uncertain significance
Single submitter
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Glu426Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- ACAD9 p.Gly218Glu Uncertain significance Single submitter
- ACAD9 p.Gly264Asp Uncertain significance Single submitter
- ACAD9 p.Gly267Val Uncertain significance Single submitter
- ACAD9 p.Gly287Glu Uncertain significance Single submitter
- ACAD9 p.Gly303Cys Uncertain significance Single submitter
- ACAD9 p.Ile154Val Uncertain significance Single submitter
- ACAD9 p.Ile246Thr Uncertain significance Single submitter
-
ACAD9 p.Ile265Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACAD9 p.Ile436Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- ACAD9 p.Ile447Thr Uncertain significance Single submitter
- ACAD9 p.Ile523Thr Uncertain significance Single submitter
-
ACAD9 p.Ile538Asn
Uncertain significance
Single submitter
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Leu128Arg
Uncertain significance
Single submitter
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Leu300Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACAD9 p.Leu547Pro
Uncertain significance
Single submitter
acyl-CoA dehydrogenase 9 deficiency
- ACAD9 p.Lys50Gln Uncertain significance Single submitter
-
ACAD9 p.Met124Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACAD9 p.Pro492Ser
Uncertain significance
Single submitter
acyl-CoA dehydrogenase 9 deficiency
- ACAD9 p.Ser2Ile Uncertain significance Single submitter
- ACAD9 p.Ser302Gly Uncertain significance Single submitter
- ACAD9 p.Ser474Phe Uncertain significance Single submitter
- ACAD9 p.Ser474Thr Uncertain significance Single submitter
-
ACAD9 p.Ser548Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ACAD9 p.Thr10Ile Uncertain significance Single submitter
- ACAD9 p.Thr181Arg Uncertain significance Single submitter
- ACAD9 p.Thr255Ser Uncertain significance Single submitter
- ACAD9 p.Thr449Ala Uncertain significance Single submitter
-
ACAD9 p.Tyr325Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACAD9 p.Tyr412Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- ACAD9 p.Val225Ala Uncertain significance Single submitter
-
ACAD9 p.Val36Leu
Uncertain significance
Single submitter
acyl-CoA dehydrogenase 9 deficiency
- ACAD9 p.Val463Ile Uncertain significance Single submitter
- ACAD9 p.Val529Ile Uncertain significance Single submitter
-
ACAD9 p.Val533Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ACAD9 p.Val74Glu Uncertain significance Single submitter
-
ACAD9 p.Arg414Leu
Uncertain significance
No assertion criteria
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Asp595His
Uncertain significance
No assertion criteria
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Gln578Glu
Uncertain significance
No assertion criteria
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Glu130Lys
Uncertain significance
No assertion criteria
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Glu525Asp
Uncertain significance
No assertion criteria
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Gly119Val
Uncertain significance
No assertion criteria
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Gly19Arg
Uncertain significance
No assertion criteria
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Gly290Val
Uncertain significance
No assertion criteria
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.His487Arg
Uncertain significance
No assertion criteria
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Leu155Val
Uncertain significance
No assertion criteria
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Leu20Val
Uncertain significance
No assertion criteria
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Leu398Val
Uncertain significance
No assertion criteria
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Leu540Pro
Uncertain significance
No assertion criteria
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Lys49Asn
Uncertain significance
No assertion criteria
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Met524Thr
Uncertain significance
No assertion criteria
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Thr11Ala
Uncertain significance
No assertion criteria
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Thr478Asn
Uncertain significance
No assertion criteria
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Thr522Ala
Uncertain significance
No assertion criteria
ACAD9-related disorder
-
ACAD9 p.Val232Leu
Uncertain significance
No assertion criteria
acyl-CoA dehydrogenase 9 deficiency
Predictors split 145
The independent predictors disagree with each other — read with care.
- ACAD9 p.Ala190Val Uncertain significance Multiple submitters
-
ACAD9 p.Ala326Thr
Benign/Likely benign
Multiple submitters
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Ala397Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACAD9 p.Ala444Val
Benign/Likely benign
Multiple submitters
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Ala545Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACAD9 p.Arg193Trp
Uncertain significance
Multiple submitters
ACAD9-related disorder
-
ACAD9 p.Arg266Trp
Pathogenic/Likely pathogenic
Multiple submitters
mitochondrial complex I deficiency
-
ACAD9 p.Arg420His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACAD9 p.Arg446Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ACAD9 p.Arg446His Uncertain significance Multiple submitters
-
ACAD9 p.Arg532Trp
Pathogenic/Likely pathogenic
Multiple submitters
mitochondrial complex I deficiency
- ACAD9 p.Arg559Cys Uncertain significance Multiple submitters
-
ACAD9 p.Asn208Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACAD9 p.Asn301Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACAD9 p.Asp562Asn
Uncertain significance
Multiple submitters
acyl-CoA dehydrogenase 9 deficiency
- ACAD9 p.Cys572Ser Uncertain significance Multiple submitters
-
ACAD9 p.Glu160Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACAD9 p.Glu260Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACAD9 p.Glu338Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACAD9 p.Glu596Lys
Uncertain significance
Multiple submitters
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Gly19Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACAD9 p.Gly236Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ACAD9 p.Gly445Ser Uncertain significance Multiple submitters
-
ACAD9 p.Ile148Val
Uncertain significance
Multiple submitters
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Ile222Thr
Uncertain significance
Multiple submitters
acyl-CoA dehydrogenase 9 deficiency
- ACAD9 p.Ile377Met Uncertain significance Multiple submitters
-
ACAD9 p.Leu219Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACAD9 p.Leu580Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACAD9 p.Leu98Ser
Likely pathogenic
Multiple submitters
mitochondrial complex I deficiency
-
ACAD9 p.Lys151Arg
Uncertain significance
Multiple submitters
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Lys330Gln
Benign/Likely benign
Multiple submitters
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Lys51Ile
Uncertain significance
Multiple submitters
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Thr141Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACAD9 p.Val355Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACAD9 p.Val74Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ACAD9 p.Ala143Thr Uncertain significance Single submitter
-
ACAD9 p.Ala170Val
Conflicting
Single submitter
acyl-CoA dehydrogenase 9 deficiency
- ACAD9 p.Ala189Ser Uncertain significance Single submitter
-
ACAD9 p.Ala326Ser
Uncertain significance
Single submitter
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Ala390Val
Conflicting
Single submitter
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Ala437Thr
Uncertain significance
Single submitter
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Ala444Thr
Uncertain significance
Single submitter
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Arg15Pro
Uncertain significance
Single submitter
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Arg193Gln
Likely benign
Single submitter
Inborn genetic diseases
-
ACAD9 p.Arg27Trp
Uncertain significance
Single submitter
acyl-CoA dehydrogenase 9 deficiency
- ACAD9 p.Arg408Gly Uncertain significance Single submitter
-
ACAD9 p.Arg408Thr
Conflicting
Single submitter
Inborn genetic diseases
- ACAD9 p.Arg414His Conflicting Single submitter
-
ACAD9 p.Arg433Gln
Conflicting
Single submitter
acyl-CoA dehydrogenase 9 deficiency
- ACAD9 p.Arg433Trp Uncertain significance Single submitter
- ACAD9 p.Arg469Gln Uncertain significance Single submitter
-
ACAD9 p.Arg469Trp
Conflicting
Single submitter
acyl-CoA dehydrogenase 9 deficiency
- ACAD9 p.Arg510Gln Uncertain significance Single submitter
- ACAD9 p.Arg552Cys Uncertain significance Single submitter
- ACAD9 p.Arg619Ser Uncertain significance Single submitter
-
ACAD9 p.Arg85Gln
Likely benign
Single submitter
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Asn429Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ACAD9 p.Asp188Asn Uncertain significance Single submitter
- ACAD9 p.Asp250Tyr Uncertain significance Single submitter
-
ACAD9 p.Asp374Asn
Uncertain significance
Single submitter
acyl-CoA dehydrogenase 9 deficiency
- ACAD9 p.Asp374Tyr Uncertain significance Single submitter
-
ACAD9 p.Cys613Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACAD9 p.Gln110His
Uncertain significance
Single submitter
Inborn genetic diseases
- ACAD9 p.Gln69Arg Uncertain significance Single submitter
- ACAD9 p.Glu113Ala Uncertain significance Single submitter
-
ACAD9 p.Glu113Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACAD9 p.Glu159Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- ACAD9 p.Gly116Arg Uncertain significance Single submitter
-
ACAD9 p.Gly19Cys
Uncertain significance
Single submitter
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Gly252Asp
Uncertain significance
Single submitter
acyl-CoA dehydrogenase 9 deficiency
- ACAD9 p.Gly252Val Uncertain significance Single submitter
- ACAD9 p.Gly267Ala Uncertain significance Single submitter
-
ACAD9 p.Gly476Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ACAD9 p.Gly488Glu Uncertain significance Single submitter
- ACAD9 p.His204Arg Uncertain significance Single submitter
- ACAD9 p.His453Tyr Uncertain significance Single submitter
- ACAD9 p.His563Tyr Uncertain significance Single submitter
- ACAD9 p.His615Tyr Uncertain significance Single submitter
- ACAD9 p.Ile131Phe Uncertain significance Single submitter
-
ACAD9 p.Ile175Thr
Uncertain significance
Single submitter
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Ile175Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACAD9 p.Ile265Val
Uncertain significance
Single submitter
acyl-CoA dehydrogenase 9 deficiency
- ACAD9 p.Ile285Asn Uncertain significance Single submitter
- ACAD9 p.Ile452Asn Uncertain significance Single submitter
-
ACAD9 p.Ile538Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACAD9 p.Ile67Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACAD9 p.Leu155Met
Uncertain significance
Single submitter
Inborn genetic diseases
- ACAD9 p.Leu219Gln Likely benign Single submitter
-
ACAD9 p.Leu341Ser
Conflicting
Single submitter
acyl-CoA dehydrogenase 9 deficiency
- ACAD9 p.Leu423Phe Uncertain significance Single submitter
-
ACAD9 p.Leu432Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACAD9 p.Leu438Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACAD9 p.Leu438Val
Uncertain significance
Single submitter
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Leu594Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- ACAD9 p.Leu606His Uncertain significance Single submitter
- ACAD9 p.Leu6Pro Uncertain significance Single submitter
- ACAD9 p.Lys228Glu Uncertain significance Single submitter
- ACAD9 p.Lys279Asn Uncertain significance Single submitter
-
ACAD9 p.Lys456Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACAD9 p.Lys456Glu
Uncertain significance
Single submitter
acyl-CoA dehydrogenase 9 deficiency
- ACAD9 p.Lys608Met Uncertain significance Single submitter
- ACAD9 p.Met297Val Uncertain significance Single submitter
-
ACAD9 p.Met307Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACAD9 p.Met434Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACAD9 p.Phe346Cys
Uncertain significance
Single submitter
acyl-CoA dehydrogenase 9 deficiency
- ACAD9 p.Pro259Ser Uncertain significance Single submitter
-
ACAD9 p.Pro281Leu
Likely pathogenic
Single submitter
acyl-CoA dehydrogenase 9 deficiency
- ACAD9 p.Pro411Ala Uncertain significance Single submitter
-
ACAD9 p.Pro411Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ACAD9 p.Pro57Leu Uncertain significance Single submitter
-
ACAD9 p.Pro616Ser
Conflicting
Single submitter
Inborn genetic diseases
-
ACAD9 p.Pro73Thr
Uncertain significance
Single submitter
acyl-CoA dehydrogenase 9 deficiency
- ACAD9 p.Ser121Ala Uncertain significance Single submitter
-
ACAD9 p.Ser2Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- ACAD9 p.Ser2Asn Uncertain significance Single submitter
- ACAD9 p.Ser2Gly Uncertain significance Single submitter
- ACAD9 p.Ser337Gly Likely benign Single submitter
- ACAD9 p.Ser551Thr Uncertain significance Single submitter
- ACAD9 p.Ser582Arg Uncertain significance Single submitter
- ACAD9 p.Ser584Pro Uncertain significance Single submitter
- ACAD9 p.Thr123Ser Uncertain significance Single submitter
-
ACAD9 p.Thr462Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACAD9 p.Thr544Met
Conflicting
Single submitter
Inborn genetic diseases
- ACAD9 p.Tyr205Cys Uncertain significance Single submitter
- ACAD9 p.Tyr435His Uncertain significance Single submitter
-
ACAD9 p.Tyr541Cys
Conflicting
Single submitter
ACAD9-related disorder
-
ACAD9 p.Tyr611Cys
Conflicting
Single submitter
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Val21Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACAD9 p.Val232Ile
Conflicting
Single submitter
Inborn genetic diseases
-
ACAD9 p.Val282Met
Uncertain significance
Single submitter
Inborn genetic diseases
- ACAD9 p.Val295Met Uncertain significance Single submitter
-
ACAD9 p.Val546Met
Conflicting
Single submitter
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Val601Met
Conflicting
Single submitter
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Ala196Thr
Uncertain significance
No assertion criteria
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Ala364Val
Uncertain significance
No assertion criteria
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Asn535Ser
Uncertain significance
No assertion criteria
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Asp465Asn
Uncertain significance
No assertion criteria
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.His563Asp
Pathogenic
No assertion criteria
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Ile415Val
Uncertain significance
No assertion criteria
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Leu64Phe
Uncertain significance
No assertion criteria
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Lys345Arg
Uncertain significance
No assertion criteria
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Met434Ile
Uncertain significance
No assertion criteria
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Phe508Leu
Uncertain significance
No assertion criteria
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Pro55Leu
Uncertain significance
No assertion criteria
acyl-CoA dehydrogenase 9 deficiency
-
ACAD9 p.Val232Gly
Uncertain significance
No assertion criteria
acyl-CoA dehydrogenase 9 deficiency
All ACAD9 variants
Pathogenic 38
- p.Arg249fs Multiple submitters mitochondrial complex I deficiency
- p.Glu63Ter Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- p.Trp391Ter Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- c.1030-1G>C Single submitter
- c.1278+1G>A Single submitter acyl-CoA dehydrogenase 9 deficiency
- c.1564-6_1569del Single submitter
- p.Arg37Ter Single submitter
- p.Arg408fs Single submitter
- p.Arg420fs Single submitter
- p.Asp135fs Single submitter
- p.Asp261_Lys262insTer Single submitter
- p.Asp374fs Single submitter
- p.Gln442Ter Single submitter
- p.Gln603fs Single submitter
- p.Gln61Ter Single submitter
- p.Glu426Ter Single submitter
- p.Gly340fs Single submitter
- p.His487fs Single submitter
- p.Ile424fs Single submitter
- p.Ile48fs Single submitter
- p.Ile87fs Single submitter
- p.Leu169fs Single submitter
- p.Leu494fs Single submitter
- p.Leu583fs Single submitter
- p.Lys168fs Single submitter
- p.Lys316fs Single submitter
- p.Met1Ile Single submitter
- p.Phe372fs Single submitter
- p.Pro35fs Single submitter
- p.Pro370fs Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Ser395fs Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Thr32fs Single submitter
- p.Thr450fs Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Tyr406Ter Single submitter
- p.Tyr410Ter Single submitter
- p.Tyr412Ter Single submitter
- p.Tyr506Ter Single submitter
- p.His563Asp No assertion criteria acyl-CoA dehydrogenase 9 deficiency ⚠
Pathogenic/Likely pathogenic 41
- c.1029+1dup Multiple submitters mitochondrial complex I deficiency
- c.1030-1G>A Multiple submitters
- c.1359-1G>A Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- c.151-1_151del Multiple submitters mitochondrial complex I deficiency
- c.153_156del Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- c.1563+1G>A Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- c.1765+2T>A Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- c.1A>G Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- p.Ala326Pro Multiple submitters mitochondrial complex I deficiency
- p.Ala390Thr Multiple submitters acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Arg266Gln Multiple submitters acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Arg266Trp Multiple submitters mitochondrial complex I deficiency ⚠
- p.Arg414Cys Multiple submitters acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Arg414Ser Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- p.Arg417Cys Multiple submitters mitochondrial complex I deficiency
- p.Arg477Ter Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- p.Arg518Cys Multiple submitters mitochondrial complex I deficiency ⚠
- p.Arg518His Multiple submitters acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Arg532Trp Multiple submitters mitochondrial complex I deficiency ⚠
- p.Arg609Ter Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- p.Arg85Ter Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- p.Asp62fs Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- p.Gln585fs Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- p.Gln69Ter Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- p.Glu114Ter Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- p.Glu173fs Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- p.Glu324fs Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- p.Glu324Ter Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- p.Glu413Lys Multiple submitters mitochondrial complex I deficiency
- p.Gly488Ter Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- p.Ile319fs Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- p.Ile431fs Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- p.Leu606fs Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- p.Leu6fs Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- p.Met1Leu Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- p.Phe120fs Multiple submitters mitochondrial complex I deficiency
- p.Phe275fs Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- p.Thr462fs Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- p.Tyr165_Leu166insTer Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- p.Tyr354fs Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- p.Val533fs Multiple submitters acyl-CoA dehydrogenase 9 deficiency
Likely pathogenic 102
- c.1150-2A>G Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- c.1278+1G>T Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- c.1279-2A>C Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- c.1358+2T>G Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- c.1359-45_1383del Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- c.150+1G>T Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- c.1674_1692+34del Multiple submitters mitochondrial complex I deficiency
- c.1692+1G>A Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- c.346+1G>A Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- c.453+1G>A Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- c.453+2T>A Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- c.634-1G>A Multiple submitters mitochondrial complex I deficiency
- c.882+1G>A Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- p.Arg532Gln Multiple submitters acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Gln585fs Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- p.Glu564Lys Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- p.Leu98Ser Multiple submitters mitochondrial complex I deficiency ⚠
- p.Thr449fs Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- p.Val463fs Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- c.1029+1G>A Single submitter
- c.1029+1G>T Single submitter
- c.1030-2A>T Single submitter acyl-CoA dehydrogenase 9 deficiency
- c.1149+1G>A Single submitter
- c.1278+2T>G Single submitter
- c.1279-1G>A Single submitter
- c.1279-1G>C Single submitter acyl-CoA dehydrogenase 9 deficiency
- c.1358+1G>C Single submitter
- c.1358+1G>T Single submitter
- c.1359-104_1387del Single submitter acyl-CoA dehydrogenase 9 deficiency
- c.1359-2A>G Single submitter
- c.1485+2T>G Single submitter acyl-CoA dehydrogenase 9 deficiency
- c.1486-2A>G Single submitter acyl-CoA dehydrogenase 9 deficiency
- c.151-1G>C Single submitter acyl-CoA dehydrogenase 9 deficiency
- c.151-2A>G Single submitter
- c.1563+2T>G Single submitter
- c.1564-2A>G Single submitter acyl-CoA dehydrogenase 9 deficiency
- c.1632_1692+6del Single submitter
- c.1671_1693-79delinsCTGAT Single submitter
- c.1692+2T>A Single submitter
- c.1693-1G>A Single submitter acyl-CoA dehydrogenase 9 deficiency
- c.1693-2A>C Single submitter
- c.1693-2A>G Single submitter acyl-CoA dehydrogenase 9 deficiency
- c.245-2A>G Single submitter
- c.347-1G>A Single submitter acyl-CoA dehydrogenase 9 deficiency
- c.347-1G>T Single submitter acyl-CoA dehydrogenase 9 deficiency
- c.454-10_455del Single submitter
- c.454-1G>T Single submitter acyl-CoA dehydrogenase 9 deficiency
- c.554+1G>A Single submitter
- c.554+1G>C Single submitter
- c.633+1G>A Single submitter acyl-CoA dehydrogenase 9 deficiency
- c.633+2T>A Single submitter
- c.633+2T>G Single submitter acyl-CoA dehydrogenase 9 deficiency
- c.808+2T>C Single submitter
- c.809-1G>A Single submitter acyl-CoA dehydrogenase 9 deficiency
- c.958+2T>C Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Ala220Pro Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Ala220Val Single submitter hypertrophic cardiomyopathy
- p.Ala495fs Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Ala498fs Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Arg127Ter Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Arg15Cys Single submitter ⚠
- p.Arg414fs Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Asn284Asp Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Asp240fs Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Cys271fs Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Gln399Ter Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Glu159fs Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Glu260Ter Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Glu338fs Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Glu607Ter Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Gly172Arg Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Gly252fs Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Gly440fs Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Gly72fs Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Ile222Asn Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Ile242fs Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Ile447_Leu448insTer Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Leu109fs Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Leu286Pro Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Leu416fs Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Leu432fs Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Leu438fs Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Leu475fs Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Leu98fs Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Lys211Arg Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Lys228_Glu230delinsGlnTer Single submitter
- p.Lys459_Ser461delinsThrCys Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Lys600fs Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Met1fs Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Phe425fs Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Phe44Ile Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Phe70fs Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Pro281Leu Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Ser268Phe Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Ser493fs Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Ser602fs Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Ser602Phe Single submitter mitochondrial complex I deficiency
- p.Thr11fs Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Thr224fs Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Tyr115Ter Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Val384Met Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Val467fs Single submitter acyl-CoA dehydrogenase 9 deficiency
Conflicting classifications of pathogenicity 48
- c.1030-1G>T Single submitter Inborn genetic diseases
- c.1150-5C>T Single submitter acyl-CoA dehydrogenase 9 deficiency
- c.453+8A>G Single submitter acyl-CoA dehydrogenase 9 deficiency
- c.-44_-41dup Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Ala170Val Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Ala390Val Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Ala397= Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Ala550= Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Arg408Thr Single submitter Inborn genetic diseases ⚠
- p.Arg414His Single submitter ⚠
- p.Arg433Gln Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Arg469Trp Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Arg532Leu Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Arg549Gln Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Arg555His Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Asn122= Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Asn221Ser Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Asn269= Single submitter
- p.Asn26Ser Single submitter Inborn genetic diseases ⚠
- p.Asn569Ser Single submitter Inborn genetic diseases ⚠
- p.Asn65= Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Asp95Ala Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Cys572Tyr Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Glu388Lys Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Gly149Ser Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Gly290Arg Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Gly402Arg Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Gly509Ser Single submitter Inborn genetic diseases ⚠
- p.Ile554fs Single submitter Inborn genetic diseases
- p.Ile556Thr Single submitter Inborn genetic diseases ⚠
- p.Ile556Val Single submitter Inborn genetic diseases ⚠
- p.Leu341Ser Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Lys600fs Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Met381Val Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Pro616Ser Single submitter Inborn genetic diseases ⚠
- p.Thr243Arg Single submitter ⚠
- p.Thr407= Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Thr466= Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Thr544Met Single submitter Inborn genetic diseases ⚠
- p.Tyr354= Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Tyr541Cys Single submitter ACAD9-related disorder ⚠
- p.Tyr611Cys Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Val232Ile Single submitter Inborn genetic diseases ⚠
- p.Val310Ile Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Val467Ile Single submitter Inborn genetic diseases ⚠
- p.Val546Met Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Val573Met Single submitter Inborn genetic diseases ⚠
- p.Val601Met Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
Benign 73
- c.1149+57C>T Multiple submitters
- c.1150-154C>T Multiple submitters
- c.1150-192T>C Multiple submitters
- c.1150-84T>G Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- c.1278+107G>A Multiple submitters
- c.1278+150C>T Multiple submitters
- c.1278+153C>T Multiple submitters
- c.1279-76T>C Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- c.1279-7A>G Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- c.1358+137C>G Multiple submitters
- c.1358+152T>C Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- c.1358+198G>A Multiple submitters
- c.1358+204G>C Multiple submitters
- c.1359-302A>G Multiple submitters
- c.1359-63T>C Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- c.1485+57T>C Multiple submitters
- c.151-200T>C Multiple submitters
- c.1563+129T>G Multiple submitters
- c.1563+237G>C Multiple submitters
- c.1564-55A>G Multiple submitters
- c.1692+145G>C Multiple submitters
- c.1693-252G>A Multiple submitters
- c.1766-173C>T Multiple submitters
- c.346+160G>C Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- c.346+63A>G Multiple submitters
- c.347-149G>A Multiple submitters
- c.347-20C>T Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- c.454-19C>A Multiple submitters
- c.554+20G>A Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- c.555-116C>G Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- c.555-150C>T Multiple submitters
- c.808+62G>T Multiple submitters
- c.808+63GT[14] Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- c.883-33A>G Multiple submitters
- c.959-145G>T Multiple submitters
- c.959-163G>A Multiple submitters
- c.-65GT[4] Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- c.*31G>A Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- p.Arg127= Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- p.Arg477Gln Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- p.His561= Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- p.Leu263= Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- p.Pro492= Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- c.1030-14dup Single submitter
- c.1278+226C>T Single submitter
- c.1359-193G>A Single submitter
- c.1359-196T>C Single submitter
- c.1563+217_1563+218del Single submitter
- c.1564-51G>A Single submitter
- c.1693-78_1693-75dup Single submitter
- c.245-169A>T Single submitter
- c.245-285A>C Single submitter
- c.245-311_245-309del Single submitter
- c.346+331C>A Single submitter
- c.347-309T>C Single submitter
- c.347-68dup Single submitter
- c.453+281C>T Single submitter
- c.453+305_453+307dup Single submitter
- c.633+199G>A Single submitter
- c.808+17C>T Single submitter
- c.808+63GT[19] Single submitter
- c.808+63GT[21] Single submitter
- c.808+63GT[22] Single submitter
- c.808+63GT[23] Single submitter
- c.809-103TGGA[10] Single submitter
- c.809-103TGGA[11] Single submitter
- c.882+196T>C Single submitter
- c.882+198A>G Single submitter
- c.882+214C>T Single submitter
- c.958+267T>C Single submitter
- c.959-300G>A Single submitter
- c.*223GA[4] Single submitter
- p.Ala170= Single submitter acyl-CoA dehydrogenase 9 deficiency
Benign/Likely benign 11
- c.150+87C>T Multiple submitters
- c.1692+285C>T Multiple submitters
- c.454-20T>C Multiple submitters
- c.808+20G>A Multiple submitters
- c.*26C>T Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- c.*331T>G Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- c.*68C>T Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- p.Ala326Thr Multiple submitters acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Ala444Val Multiple submitters acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Arg559Ser Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- p.Lys330Gln Multiple submitters acyl-CoA dehydrogenase 9 deficiency ⚠
Likely benign 540
Showing the top 300 by review status; the full set is in the sitemap.
- c.1278+89G>A Multiple submitters
- c.1278+9C>G Multiple submitters
- c.150+8G>A Multiple submitters
- c.1564-141A>G Multiple submitters
- c.1692+124G>A Multiple submitters
- c.1692+8C>G Multiple submitters
- c.1693-256T>C Multiple submitters
- c.347-7C>T Multiple submitters
- c.454-5T>C Multiple submitters
- c.633+76C>A Multiple submitters
- c.634-5C>T Multiple submitters
- c.808+18G>A Multiple submitters
- c.808+22G>A Multiple submitters
- c.809-10T>C Multiple submitters
- p.Arg532= Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- p.Cys327= Multiple submitters
- p.Cys4= Multiple submitters
- p.Cys572= Multiple submitters
- p.Gly5= Multiple submitters
- p.Pro411= Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- p.Ser171= Multiple submitters
- p.Thr439= Multiple submitters
- p.Thr511= Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- p.Thr544= Multiple submitters
- p.Val225= Multiple submitters
- p.Val311= Multiple submitters
- c.1029+10G>C Single submitter acyl-CoA dehydrogenase 9 deficiency
- c.1029+13G>A Single submitter
- c.1029+14A>C Single submitter
- c.1029+18C>G Single submitter
- c.1029+7A>C Single submitter
- c.1029+9G>A Single submitter
- c.1030-5T>A Single submitter
- c.1030-7A>C Single submitter
- c.1030-8C>T Single submitter acyl-CoA dehydrogenase 9 deficiency
- c.1149+10G>A Single submitter
- c.1149+11C>A Single submitter
- c.1149+16C>T Single submitter
- c.1149+17C>G Single submitter
- c.1149+51C>T Single submitter
- c.1149+7C>G Single submitter
- c.1150-10C>T Single submitter
- c.1150-14G>A Single submitter
- c.1150-16G>A Single submitter
- c.1150-85G>A Single submitter
- c.1150-8C>T Single submitter
- c.1278+10C>T Single submitter acyl-CoA dehydrogenase 9 deficiency
- c.1278+11C>A Single submitter
- c.1278+12C>T Single submitter
- c.1278+13G>A Single submitter
- c.1278+13G>T Single submitter
- c.1278+14C>T Single submitter
- c.1278+16A>T Single submitter
- c.1278+17_1278+18insT Single submitter
- c.1278+174C>T Single submitter
- c.1278+17C>G Single submitter
- c.1278+19A>G Single submitter
- c.1278+20del Single submitter
- c.1279-10dup Single submitter
- c.1279-16A>G Single submitter
- c.1279-17T>C Single submitter
- c.1279-18C>T Single submitter
- c.1279-4A>G Single submitter
- c.1279-8G>C Single submitter
- c.1279-9T>C Single submitter
- c.1358+10A>G Single submitter
- c.1358+13G>A Single submitter
- c.1358+16A>G Single submitter
- c.1358+17C>T Single submitter
- c.1358+18C>T Single submitter
- c.1358+19G>A Single submitter
- c.1358+19G>T Single submitter
- c.1358+7G>A Single submitter
- c.1358+8C>T Single submitter
- c.1358+9C>T Single submitter
- c.1359-14T>C Single submitter
- c.1359-15A>G Single submitter
- c.1359-16C>T Single submitter
- c.1359-19G>A Single submitter
- c.1359-20G>A Single submitter
- c.1359-7T>C Single submitter
- c.1485+12T>C Single submitter
- c.1485+13_1485+16dup Single submitter
- c.1485+15C>T Single submitter
- c.1485+18G>C Single submitter
- c.1485+25C>A Single submitter
- c.1485+4_1485+7dup Single submitter
- c.1485+8_1485+11del Single submitter
- c.1485+8G>A Single submitter
- c.1486-10T>C Single submitter
- c.1486-10T>G Single submitter
- c.1486-16C>T Single submitter
- c.1486-19G>A Single submitter
- c.1486-6T>C Single submitter
- c.1486-7T>C Single submitter
- c.1486-8G>A Single submitter
- c.1486-9G>C Single submitter
- c.150+10G>C Single submitter
- c.150+12C>T Single submitter
- c.150+13C>T Single submitter
- c.150+17_150+27dup Single submitter
- c.150+17G>C Single submitter
- c.150+18C>T Single submitter
- c.150+19G>A Single submitter
- c.151-12T>C Single submitter
- c.151-17A>G Single submitter
- c.151-250A>C Single submitter
- c.151-7T>C Single submitter
- c.151-9T>C Single submitter
- c.1563+10C>T Single submitter
- c.1563+12_1563+21del Single submitter
- c.1563+12C>G Single submitter
- c.1563+12C>T Single submitter
- c.1563+14C>A Single submitter
- c.1563+15C>G Single submitter
- c.1563+17A>G Single submitter
- c.1563+18G>A Single submitter
- c.1563+19G>C Single submitter
- c.1563+212G>A Single submitter
- c.1563+9G>A Single submitter
- c.1564-10G>A Single submitter
- c.1564-11dup Single submitter
- c.1564-11T>C Single submitter
- c.1564-12C>T Single submitter
- c.1564-14C>T Single submitter
- c.1564-15C>A Single submitter
- c.1564-16G>C Single submitter
- c.1564-16G>T Single submitter
- c.1564-4C>G Single submitter
- c.1564-4C>T Single submitter
- c.1564-6T>A Single submitter
- c.1564-7A>C Single submitter
- c.1692+11C>T Single submitter
- c.1692+122G>C Single submitter
- c.1692+13_1692+17del Single submitter
- c.1692+13C>A Single submitter
- c.1692+13C>T Single submitter
- c.1692+185_1692+188del Single submitter Inborn genetic diseases
- c.1692+20A>C Single submitter
- c.1692+4AGCCC[3] Single submitter
- c.1692+9A>G Single submitter
- c.1693-10G>A Single submitter
- c.1693-12C>T Single submitter
- c.1693-13T>G Single submitter
- c.1693-18T>C Single submitter
- c.1693-18T>G Single submitter
- c.1693-19C>G Single submitter
- c.1693-234G>A Single submitter
- c.1693-270C>T Single submitter
- c.1693-294T>A Single submitter
- c.1693-4G>A Single submitter
- c.1693-6T>C Single submitter
- c.1765+10A>G Single submitter
- c.1765+11T>G Single submitter
- c.1765+13T>A Single submitter
- c.1765+13T>G Single submitter
- c.1765+14C>T Single submitter
- c.1765+16T>C Single submitter
- c.1765+18G>C Single submitter
- c.1765+18G>T Single submitter
- c.1765+20G>A Single submitter
- c.1765+21del Single submitter
- c.1765+237T>A Single submitter
- c.1765+4_1765+7dup Single submitter
- c.1765+7G>A Single submitter
- c.1765+8G>A Single submitter
- c.1765+8G>C Single submitter
- c.1766-10T>C Single submitter
- c.1766-14_1766-12del Single submitter
- c.1766-15_1766-14del Single submitter
- c.1766-204G>C Single submitter
- c.1766-20T>C Single submitter
- c.1766-20TC[2] Single submitter
- c.1766-5_1766-4insA Single submitter
- c.1766-7T>C Single submitter
- c.1766-8C>G Single submitter
- c.1766-8C>T Single submitter
- c.244+11T>C Single submitter
- c.244+20C>T Single submitter
- c.244+52G>A Single submitter
- c.245-10C>G Single submitter
- c.245-11C>T Single submitter
- c.245-15T>A Single submitter
- c.245-16A>T Single submitter
- c.245-17G>T Single submitter
- c.245-20C>T Single submitter
- c.245-6T>G Single submitter
- c.245-8C>T Single submitter
- c.346+10G>T Single submitter
- c.346+15C>G Single submitter
- c.346+15del Single submitter
- c.346+16A>G Single submitter
- c.346+8A>G Single submitter
- c.346+9A>G Single submitter
- c.347-10T>C Single submitter
- c.347-11A>C Single submitter
- c.347-19G>A Single submitter
- c.347-9C>T Single submitter
- c.453+11T>C Single submitter
- c.453+12G>A Single submitter
- c.453+19C>G Single submitter
- c.453+9T>G Single submitter
- c.454-11G>A Single submitter
- c.454-11G>C Single submitter
- c.454-11G>T Single submitter
- c.454-13C>A Single submitter
- c.454-13C>T Single submitter
- c.454-18T>C Single submitter
- c.454-20T>G Single submitter
- c.454-7T>G Single submitter
- c.454-8T>C Single submitter
- c.454-8T>G Single submitter
- c.554+10T>C Single submitter
- c.554+15A>G Single submitter
- c.554+19C>T Single submitter
- c.554+19del Single submitter
- c.554+7C>G Single submitter
- c.554+7C>T Single submitter
- c.554+8T>A Single submitter
- c.554+9C>T Single submitter
- c.555-169_555-167del Single submitter
- c.555-18A>T Single submitter
- c.555-19C>T Single submitter
- c.555-20A>G Single submitter
- c.555-4G>T Single submitter
- c.555-6C>A Single submitter
- c.555-7T>C Single submitter
- c.555-8A>G Single submitter
- c.633+11T>C Single submitter
- c.633+12del Single submitter
- c.633+163T>A Single submitter
- c.633+16C>T Single submitter
- c.633+17A>G Single submitter
- c.633+17A>T Single submitter
- c.633+7T>C Single submitter
- c.634-10C>T Single submitter
- c.634-13T>C Single submitter
- c.634-14_634-13del Single submitter
- c.634-16A>G Single submitter
- c.634-18C>T Single submitter
- c.634-20G>A Single submitter
- c.634-6C>T Single submitter
- c.634-8G>A Single submitter
- c.634-9T>C Single submitter acyl-CoA dehydrogenase 9 deficiency
- c.808+10T>C Single submitter
- c.808+11C>T Single submitter
- c.808+12C>T Single submitter
- c.808+133A>G Single submitter
- c.808+13T>C Single submitter
- c.808+15T>G Single submitter
- c.808+19C>T Single submitter
- c.808+25_808+30del Single submitter
- c.809-11A>G Single submitter
- c.809-11A>T Single submitter
- c.809-7_809-6del Single submitter
- c.809-7G>A Single submitter
- c.882+10C>T Single submitter
- c.882+12G>A Single submitter
- c.882+14C>G Single submitter
- c.882+15A>G Single submitter
- c.882+16C>T Single submitter
- c.882+17A>G Single submitter
- c.882+18G>A Single submitter
- c.882+20C>G Single submitter
- c.882+8G>T Single submitter
- c.882+9_882+35del Single submitter acyl-CoA dehydrogenase 9 deficiency
- c.882+9C>T Single submitter
- c.883-10C>G Single submitter
- c.883-10C>T Single submitter
- c.883-13G>A Single submitter
- c.883-15C>T Single submitter
- c.883-16C>T Single submitter
- c.883-19C>T Single submitter
- c.883-4G>A Single submitter
- c.883-5T>G Single submitter
- c.883-6C>T Single submitter
- c.883-8C>T Single submitter
- c.958+12dup Single submitter
- c.958+169G>A Single submitter
- c.958+16A>T Single submitter
- c.958+175G>C Single submitter
- c.958+21del Single submitter
- c.959-11C>T Single submitter
- c.959-14_959-13del Single submitter
- c.959-15T>A Single submitter
- c.959-16C>T Single submitter
- c.959-20A>G Single submitter
- c.959-5C>T Single submitter
- c.959-5del Single submitter
- c.959-6C>T Single submitter acyl-CoA dehydrogenase 9 deficiency
- c.959-8T>A Single submitter
- c.959-9C>T Single submitter
- c.-11C>T Single submitter
- c.*18C>G Single submitter
- c.*194A>G Single submitter
- c.*8G>A Single submitter
- p.Ala13= Single submitter
- p.Ala144= Single submitter
- p.Ala156= Single submitter
- p.Ala16= Single submitter
Uncertain significance 262
- c.1149+5C>A Multiple submitters Inborn genetic diseases
- c.1278+6T>C Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- c.633+3A>G Multiple submitters
- c.634-3C>T Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- p.Ala190Val Multiple submitters ⚠
- p.Ala25Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala353Val Multiple submitters ⚠
- p.Ala397Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala495= Multiple submitters Inborn genetic diseases
- p.Ala495Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala545Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg193Trp Multiple submitters ACAD9-related disorder ⚠
- p.Arg31Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg420Cys Multiple submitters acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Arg420His Multiple submitters Inborn genetic diseases ⚠
- p.Arg446Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg446His Multiple submitters ⚠
- p.Arg472Trp Multiple submitters ⚠
- p.Arg555Cys Multiple submitters ⚠
- p.Arg559Cys Multiple submitters ⚠
- p.Arg609Gln Multiple submitters Inborn genetic diseases ⚠
- p.Asn208Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn301Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn499Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn569His Multiple submitters Inborn genetic diseases ⚠
- p.Asp240Glu Multiple submitters Inborn genetic diseases ⚠
- p.Asp562Asn Multiple submitters acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Cys572Ser Multiple submitters ⚠
- p.Glu160Ala Multiple submitters Inborn genetic diseases ⚠
- p.Glu260Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu338Ala Multiple submitters Inborn genetic diseases ⚠
- p.Glu378Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu503del Multiple submitters
- p.Glu596Lys Multiple submitters acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Gly19Val Multiple submitters Inborn genetic diseases ⚠
- p.Gly236Val Multiple submitters Inborn genetic diseases ⚠
- p.Gly445Ser Multiple submitters ⚠
- p.Ile132Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile148Val Multiple submitters acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Ile222Thr Multiple submitters acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Ile377Met Multiple submitters ⚠
- p.Ile421Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile523_Met524insIle Multiple submitters acyl-CoA dehydrogenase 9 deficiency
- p.Leu180Phe Multiple submitters ⚠
- p.Leu219Arg Multiple submitters Inborn genetic diseases ⚠
- p.Leu300Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu580Val Multiple submitters Inborn genetic diseases ⚠
- p.Lys151Arg Multiple submitters acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Lys51Ile Multiple submitters acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Met134Ile Multiple submitters Inborn genetic diseases ⚠
- p.Pro34Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ser185Arg Multiple submitters Inborn genetic diseases ⚠
- p.Thr141Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr24Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr360Ser Multiple submitters ⚠
- p.Thr428Ile Multiple submitters ⚠
- p.Val247Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val355Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val74Met Multiple submitters Inborn genetic diseases ⚠
- c.1485+6T>A Single submitter
- c.1486-4A>G Single submitter
- c.1693-11G>A Single submitter
- c.1693-266G>C Single submitter
- c.1765+13T>C Single submitter acyl-CoA dehydrogenase 9 deficiency
- c.1765+2dup Single submitter
- c.244+3A>G Single submitter acyl-CoA dehydrogenase 9 deficiency
- c.346+14_346+15delinsTA Single submitter
- c.883-14T>G Single submitter
- c.959-13T>A Single submitter
- c.959-3C>G Single submitter mitochondrial complex I deficiency
- c.*204C>T Single submitter acyl-CoA dehydrogenase 9 deficiency
- c.*221C>T Single submitter acyl-CoA dehydrogenase 9 deficiency
- c.*341C>T Single submitter acyl-CoA dehydrogenase 9 deficiency
- c.*499G>A Single submitter acyl-CoA dehydrogenase 9 deficiency
- c.*504G>A Single submitter acyl-CoA dehydrogenase 9 deficiency
- c.*92A>C Single submitter acyl-CoA dehydrogenase 9 deficiency
- p.Ala143Thr Single submitter ⚠
- p.Ala144Val Single submitter Inborn genetic diseases ⚠
- p.Ala14Val Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Ala189Ser Single submitter ⚠
- p.Ala326Ser Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Ala390Ser Single submitter ⚠
- p.Ala437Thr Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Ala444Thr Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Ala534Val Single submitter Inborn genetic diseases ⚠
- p.Ala550_Ser551insValLeuSerArgAla Single submitter
- p.Arg127Gln Single submitter
- p.Arg15Pro Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Arg195Lys Single submitter ⚠
- p.Arg27Trp Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Arg304Gln Single submitter ⚠
- p.Arg304Trp Single submitter ⚠
- p.Arg329Ser Single submitter Inborn genetic diseases ⚠
- p.Arg408Gly Single submitter ⚠
- p.Arg433Trp Single submitter ⚠
- p.Arg469Gln Single submitter ⚠
- p.Arg472Gln Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Arg477Gly Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Arg510Gln Single submitter ⚠
- p.Arg549Trp Single submitter Inborn genetic diseases ⚠
- p.Arg552Cys Single submitter ⚠
- p.Arg555Gly Single submitter ⚠
- p.Arg555Leu Single submitter ⚠
- p.Arg559His Single submitter ⚠
- p.Arg619Ser Single submitter ⚠
- p.Asn429Ser Single submitter Inborn genetic diseases ⚠
- p.Asn579Lys Single submitter ⚠
- p.Asp188Asn Single submitter ⚠
- p.Asp250Tyr Single submitter ⚠
- p.Asp374Asn Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Asp374Tyr Single submitter ⚠
- p.Asp473Glu Single submitter ⚠
- p.Asp496Ala Single submitter ⚠
- p.Asp587Glu Single submitter ⚠
- p.Cys613Tyr Single submitter Inborn genetic diseases ⚠
- p.Gln110His Single submitter Inborn genetic diseases ⚠
- p.Gln146Lys Single submitter ⚠
- p.Gln69Arg Single submitter ⚠
- p.Glu113Ala Single submitter ⚠
- p.Glu113Lys Single submitter Inborn genetic diseases ⚠
- p.Glu159Lys Single submitter Inborn genetic diseases ⚠
- p.Glu288Gln Single submitter ⚠
- p.Glu357Asp Single submitter ⚠
- p.Glu357Lys Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Glu426Lys Single submitter Inborn genetic diseases ⚠
- p.Glu592_Leu594del Single submitter
- p.Glu81= Single submitter
- p.Gly116Arg Single submitter ⚠
- p.Gly19Cys Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Gly218Glu Single submitter ⚠
- p.Gly252Asp Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Gly252Val Single submitter ⚠
- p.Gly264Asp Single submitter ⚠
- p.Gly267Ala Single submitter ⚠
- p.Gly267Val Single submitter ⚠
- p.Gly287Glu Single submitter ⚠
- p.Gly303Cys Single submitter ⚠
- p.Gly476Ser Single submitter Inborn genetic diseases ⚠
- p.Gly488Glu Single submitter ⚠
- p.His204Arg Single submitter ⚠
- p.His453Tyr Single submitter ⚠
- p.His563Tyr Single submitter ⚠
- p.His615Tyr Single submitter ⚠
- p.Ile131Phe Single submitter ⚠
- p.Ile154Val Single submitter ⚠
- p.Ile175Thr Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Ile175Val Single submitter Inborn genetic diseases ⚠
- p.Ile246Thr Single submitter ⚠
- p.Ile265Thr Single submitter Inborn genetic diseases ⚠
- p.Ile265Val Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Ile285Asn Single submitter ⚠
- p.Ile436Asn Single submitter Inborn genetic diseases ⚠
- p.Ile447Thr Single submitter ⚠
- p.Ile452Asn Single submitter ⚠
- p.Ile523Thr Single submitter ⚠
- p.Ile538Asn Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Ile538Leu Single submitter Inborn genetic diseases ⚠
- p.Ile67Thr Single submitter Inborn genetic diseases ⚠
- p.Leu128Arg Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Leu155Met Single submitter Inborn genetic diseases ⚠
- p.Leu300Arg Single submitter Inborn genetic diseases ⚠
- p.Leu423Phe Single submitter ⚠
- p.Leu432Val Single submitter Inborn genetic diseases ⚠
- p.Leu438Met Single submitter Inborn genetic diseases ⚠
- p.Leu438Val Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Leu547Pro Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Leu594Pro Single submitter Inborn genetic diseases ⚠
- p.Leu606His Single submitter ⚠
- p.Leu6Pro Single submitter ⚠
- p.Lys228Glu Single submitter ⚠
- p.Lys279Asn Single submitter ⚠
- p.Lys456Asn Single submitter Inborn genetic diseases ⚠
- p.Lys456Glu Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Lys50Gln Single submitter ⚠
- p.Lys588= Single submitter
- p.Lys608Met Single submitter ⚠
- p.Met124Thr Single submitter Inborn genetic diseases ⚠
- p.Met297Val Single submitter ⚠
- p.Met307Val Single submitter Inborn genetic diseases ⚠
- p.Met434Lys Single submitter Inborn genetic diseases ⚠
- p.Phe346Cys Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Pro259Ser Single submitter ⚠
- p.Pro411Ala Single submitter ⚠
- p.Pro411Leu Single submitter Inborn genetic diseases ⚠
- p.Pro492Arg Single submitter
- p.Pro492Ser Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Pro57Leu Single submitter ⚠
- p.Pro73Thr Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Ser121Ala Single submitter ⚠
- p.Ser2Arg Single submitter Inborn genetic diseases ⚠
- p.Ser2Asn Single submitter ⚠
- p.Ser2Gly Single submitter ⚠
- p.Ser2Ile Single submitter ⚠
- p.Ser302Gly Single submitter ⚠
- p.Ser474Phe Single submitter ⚠
- p.Ser474Thr Single submitter ⚠
- p.Ser548Leu Single submitter Inborn genetic diseases ⚠
- p.Ser551Thr Single submitter ⚠
- p.Ser582Arg Single submitter ⚠
- p.Ser584Pro Single submitter ⚠
- p.Thr10Ile Single submitter ⚠
- p.Thr123Ser Single submitter ⚠
- p.Thr181Arg Single submitter ⚠
- p.Thr255Ser Single submitter ⚠
- p.Thr449Ala Single submitter ⚠
- p.Thr462Arg Single submitter Inborn genetic diseases ⚠
- p.Tyr205Cys Single submitter ⚠
- p.Tyr325Asp Single submitter Inborn genetic diseases ⚠
- p.Tyr412Phe Single submitter Inborn genetic diseases ⚠
- p.Tyr435His Single submitter ⚠
- p.Val21Met Single submitter Inborn genetic diseases ⚠
- p.Val225Ala Single submitter ⚠
- p.Val282Met Single submitter Inborn genetic diseases ⚠
- p.Val295Met Single submitter ⚠
- p.Val36Leu Single submitter acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Val463Ile Single submitter ⚠
- p.Val529Ile Single submitter ⚠
- p.Val533Leu Single submitter Inborn genetic diseases ⚠
- p.Val74Glu Single submitter ⚠
- c.1150-5del No assertion criteria acyl-CoA dehydrogenase 9 deficiency
- c.347-7C>G No assertion criteria acyl-CoA dehydrogenase 9 deficiency
- c.554+4T>G No assertion criteria acyl-CoA dehydrogenase 9 deficiency
- c.882+6T>C No assertion criteria acyl-CoA dehydrogenase 9 deficiency
- c.*7G>C No assertion criteria acyl-CoA dehydrogenase 9 deficiency
- p.Ala196Thr No assertion criteria acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Ala364Val No assertion criteria acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Arg414Leu No assertion criteria acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Asn535Ser No assertion criteria acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Asn560_His561insArgAsn No assertion criteria acyl-CoA dehydrogenase 9 deficiency
- p.Asp465Asn No assertion criteria acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Asp595= No assertion criteria acyl-CoA dehydrogenase 9 deficiency
- p.Asp595His No assertion criteria acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Gln578Glu No assertion criteria acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Gln61= No assertion criteria acyl-CoA dehydrogenase 9 deficiency
- p.Glu130Lys No assertion criteria acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Glu525Asp No assertion criteria acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Gly119Val No assertion criteria acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Gly19Arg No assertion criteria acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Gly290Val No assertion criteria acyl-CoA dehydrogenase 9 deficiency ⚠
- p.His487Arg No assertion criteria acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Ile319= No assertion criteria acyl-CoA dehydrogenase 9 deficiency
- p.Ile415Val No assertion criteria acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Leu155Val No assertion criteria acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Leu20Val No assertion criteria acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Leu398Val No assertion criteria acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Leu540Pro No assertion criteria acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Leu558= No assertion criteria acyl-CoA dehydrogenase 9 deficiency
- p.Leu64Phe No assertion criteria acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Lys345Arg No assertion criteria acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Lys49Asn No assertion criteria acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Met434Ile No assertion criteria acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Met524Thr No assertion criteria acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Phe508Leu No assertion criteria acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Phe571= No assertion criteria acyl-CoA dehydrogenase 9 deficiency
- p.Pro55Leu No assertion criteria acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Ser602= No assertion criteria acyl-CoA dehydrogenase 9 deficiency
- p.Thr11Ala No assertion criteria acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Thr478Asn No assertion criteria acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Thr522Ala No assertion criteria ACAD9-related disorder ⚠
- p.Val232Gly No assertion criteria acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Val232Leu No assertion criteria acyl-CoA dehydrogenase 9 deficiency ⚠
- p.Val546_Ser548delinsAla No assertion criteria acyl-CoA dehydrogenase 9 deficiency