ACADS — 481 ClinVar variants
All ClinVar germline ACADS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 188 flagged for review →
22 Pathogenic · 22 Pathogenic/Likely pathogenic · 46 Likely pathogenic · 39 Conflicting · 22 Benign · 8 Benign/Likely benign · 120 Likely benign · 202 Uncertain significance
Full ACADS gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 188
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 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
ACADS p.Arg234Gln
Pathogenic
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Arg46Gln
Likely pathogenic
Single submitter
short chain acyl-CoA dehydrogenase deficiency
Predictors agree, ClinVar conflicts 12
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ACADS p.Ala110Thr
Conflicting
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ala192Val
Conflicting
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Arg383His
Conflicting
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Arg386Cys
Conflicting
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Arg386His
Conflicting
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Gly131Arg
Conflicting
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Gly271Val
Conflicting
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Gly274Ser
Conflicting
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Gly371Val
Conflicting
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Thr169Pro
Conflicting
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Trp139Cys
Conflicting
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Gly108Asp
Conflicting
No assertion criteria
short chain acyl-CoA dehydrogenase deficiency
Predictors lean, ClinVar uncertain 83
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ACADS p.Ala170Thr
Uncertain significance
Multiple submitters
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ala276Thr
Uncertain significance
Multiple submitters
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ala320Ser
Uncertain significance
Multiple submitters
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ala68Val
Uncertain significance
Multiple submitters
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Arg399Trp
Uncertain significance
Multiple submitters
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Asn159Lys
Uncertain significance
Multiple submitters
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Glu156Lys
Uncertain significance
Multiple submitters
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Glu379Gln
Uncertain significance
Multiple submitters
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Gly113Arg
Uncertain significance
Multiple submitters
ACADS-related disorder
-
ACADS p.Gly150Val
Uncertain significance
Multiple submitters
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Gly225Arg
Uncertain significance
Multiple submitters
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Gly281Ala
Uncertain significance
Multiple submitters
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ile105Asn
Uncertain significance
Multiple submitters
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Leu154Arg
Uncertain significance
Multiple submitters
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Leu154Phe
Uncertain significance
Multiple submitters
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ser111Phe
Uncertain significance
Multiple submitters
ACADS-related disorder
-
ACADS p.Ser161Gly
Uncertain significance
Multiple submitters
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ser353Pro
Uncertain significance
Multiple submitters
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Trp22Leu
Uncertain significance
Multiple submitters
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ala13Val
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ala166Val
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ala16Val
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ala212Asp
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ala283Val
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ala290Pro
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ala332Val
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ala356Val
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ala358Ser
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ala358Thr
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ala403Thr
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ala57Val
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ala81Val
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Arg14Gly
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Arg20Gly
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Arg297Cys
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Arg383Leu
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Asn207Ser
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Asn337Lys
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
- ACADS p.Asp336Tyr Uncertain significance Single submitter
- ACADS p.Cys109Arg Uncertain significance Single submitter
-
ACADS p.Gln135Arg
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
- ACADS p.Gln137Glu Uncertain significance Single submitter
-
ACADS p.Gln266Glu
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Gln362Glu
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Glu228Ala
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Glu396Lys
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Glu63Asp
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Gly160Ser
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Gly181Glu
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Gly225Glu
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Gly235Arg
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Gly258Glu
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Gly260Cys
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Gly274Asp
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Gly281Val
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Gly368Ser
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Gly371Ala
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Gly90Ser
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.His381Leu
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ile127Thr
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ile186Asn
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ile275Phe
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ile342Thr
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ile390Asn
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Leu122Phe
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Leu304Phe
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Leu321Pro
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Leu65Ile
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Lys72Arg
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Met116Thr
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Met40Leu
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Met74Ile
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Met82Leu
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Phe54Ser
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ser236Leu
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ser360Gly
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ser409Thr
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Thr144Ile
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Thr238Ala
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Tyr391Cys
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Val32Met
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Phe143Ser
Uncertain significance
No assertion criteria
ACADS-related disorder
-
ACADS p.Thr27Pro
Uncertain significance
No assertion criteria
short chain acyl-CoA dehydrogenase deficiency
Predictors split 91
The independent predictors disagree with each other — read with care.
-
ACADS p.Ala170Ser
Uncertain significance
Multiple submitters
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ala199Val
Likely pathogenic
Multiple submitters
ACADS-related disorder
-
ACADS p.Ala294Thr
Uncertain significance
Multiple submitters
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Arg107Cys
Pathogenic
Multiple submitters
Inborn genetic diseases
-
ACADS p.Arg171Trp
Benign/Likely benign
Multiple submitters
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Arg325Gln
Pathogenic/Likely pathogenic
Multiple submitters
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Arg330Cys
Pathogenic/Likely pathogenic
Multiple submitters
Inborn genetic diseases
-
ACADS p.Arg411Trp
Uncertain significance
Multiple submitters
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Arg46Trp
Pathogenic/Likely pathogenic
Multiple submitters
Inborn genetic diseases
-
ACADS p.Asp94Asn
Uncertain significance
Multiple submitters
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Glu244Lys
Uncertain significance
Multiple submitters
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Gly369Ser
Uncertain significance
Multiple submitters
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Leu53Val
Uncertain significance
Multiple submitters
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Pro142Arg
Uncertain significance
Multiple submitters
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Pro55Leu
Pathogenic/Likely pathogenic
Multiple submitters
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Thr201Met
Uncertain significance
Multiple submitters
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Thr219Met
Uncertain significance
Multiple submitters
short chain acyl-CoA dehydrogenase deficiency
- ACADS p.Thr219Ser Likely benign Multiple submitters
-
ACADS p.Thr223Met
Uncertain significance
Multiple submitters
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Val84Met
Uncertain significance
Multiple submitters
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ala101Thr
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
- ACADS p.Ala101Val Likely pathogenic Single submitter
-
ACADS p.Ala138Val
Conflicting
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ala165Val
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ala199Gly
Likely pathogenic
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ala204Pro
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ala212Gly
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ala276Ser
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ala286Thr
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ala302Glu
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ala302Val
Conflicting
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ala331Thr
Conflicting
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ala345Ser
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ala352Thr
Conflicting
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ala355Val
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ala356Thr
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ala385Ser
Conflicting
Single submitter
Inborn genetic diseases
-
ACADS p.Ala385Thr
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ala99Thr
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
- ACADS p.Arg14His Uncertain significance Single submitter
-
ACADS p.Arg15Gly
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Arg20Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACADS p.Arg234Trp
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Arg23Gln
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Arg23Pro
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Arg23Trp
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Arg247Cys
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Arg247Leu
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Arg380Gln
Likely pathogenic
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Arg399Gln
Conflicting
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Arg411Gln
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Asn120Ser
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
- ACADS p.Asp175Asn Uncertain significance Single submitter
-
ACADS p.Asp288Tyr
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Gln206Pro
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Glu87Lys
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Gly108Ser
Conflicting
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Gly76Arg
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Gly76Trp
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Gly92Cys
Likely pathogenic
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.His381Asn
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.His64Arg
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ile100Val
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ile273Val
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ile359Met
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Leu17Pro
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Leu231Val
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
- ACADS p.Leu241Ile Uncertain significance Single submitter
-
ACADS p.Leu254Val
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Leu287Phe
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Leu400Val
Likely benign
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Leu88Arg
Likely pathogenic
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Lys343Arg
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Lys51Arg
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Met102Val
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
- ACADS p.Met217Thr Uncertain significance Single submitter
-
ACADS p.Met259Val
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Met370Val
Conflicting
Single submitter
type 2 diabetes mellitus
-
ACADS p.Pro377Leu
Conflicting
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Ser121Cys
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
- ACADS p.Ser145Ile Uncertain significance Single submitter
-
ACADS p.Ser193Leu
Conflicting
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Thr141Met
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Thr144Pro
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
- ACADS p.Thr219Arg Uncertain significance Single submitter
-
ACADS p.Thr27Ile
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Thr357Asn
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Tyr29Cys
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Val118Ile
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Val373Met
Uncertain significance
Single submitter
short chain acyl-CoA dehydrogenase deficiency
-
ACADS p.Leu93Ile
Uncertain significance
No assertion criteria
short chain acyl-CoA dehydrogenase deficiency
All ACADS variants
Pathogenic 22
- p.Arg107Cys Multiple submitters Inborn genetic diseases ⚠
- p.Glu104del Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- p.Glu228fs Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- c.1086+2T>G Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Ala172fs Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Ala276fs Single submitter ACADS-related disorder
- p.Arg234Gln Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Asn188fs Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Gln137Ter Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Gln30Ter Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Gln311Ter Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Gln362Ter Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Glu36fs Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Glu389fs Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Gly255_Leu304del Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Gly271fs Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Leu77fs Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Leu80fs Single submitter
- p.Lys313Glu Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Met1Ile Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Ser176Ter Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Tyr123Ter Single submitter short chain acyl-CoA dehydrogenase deficiency
Pathogenic/Likely pathogenic 22
- c.795+1G>A Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- p.Ala165fs Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- p.Arg272Cys Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- p.Arg272His Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- p.Arg325Gln Multiple submitters short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Arg325Trp Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- p.Arg330Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg330His Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- p.Arg380Trp Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- p.Arg383Cys Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- p.Arg46Trp Multiple submitters Inborn genetic diseases ⚠
- p.Gln365His Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- p.Gln398Ter Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- p.Glu344Gly Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- p.Leu304fs Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- p.Met1Thr Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- p.Met1Val Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- p.Met74fs Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- p.Pro55Leu Multiple submitters short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ser353Leu Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- p.Trp177Arg Multiple submitters Inborn genetic diseases
- p.Tyr123fs Multiple submitters short chain acyl-CoA dehydrogenase deficiency
Likely pathogenic 46
- c.211-2A>G Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- c.625-1G>A Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- p.Ala199Val Multiple submitters ACADS-related disorder ⚠
- c.211-1G>A Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.360+1G>A Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.361-2A>T Single submitter ACADS-related disorder
- c.47-2A>C Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.472+1G>T Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.625-133A>T Single submitter
- c.933+1G>A Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Ala101Val Single submitter ⚠
- p.Ala199Gly Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala378fs Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Arg203Ter Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Arg380Gln Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Arg46Gln Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gln70Ter Single submitter
- p.Glu173fs Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Glu228Lys Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Gly11fs Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Gly75fs Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Gly92Cys Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ile105Phe Single submitter
- p.Leu42fs Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Leu65fs Single submitter ACADS-related disorder
- p.Leu88Arg Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Lys306Ter Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Lys313Asn Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Phe243Cys Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Pro142fs Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Pro19fs Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Ser106fs Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Thr238fs Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Tyr391Ter Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Val291fs Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.1029+1G>A No assertion criteria short chain acyl-CoA dehydrogenase deficiency
- c.1030-1G>A No assertion criteria short chain acyl-CoA dehydrogenase deficiency
- c.1086+1del No assertion criteria short chain acyl-CoA dehydrogenase deficiency
- c.1086+1G>A No assertion criteria short chain acyl-CoA dehydrogenase deficiency
- c.1086+1G>T No assertion criteria short chain acyl-CoA dehydrogenase deficiency
- c.473-2A>G No assertion criteria short chain acyl-CoA dehydrogenase deficiency
- p.Ala13fs No assertion criteria short chain acyl-CoA dehydrogenase deficiency
- p.Glu344fs No assertion criteria short chain acyl-CoA dehydrogenase deficiency
- p.Lys226fs No assertion criteria short chain acyl-CoA dehydrogenase deficiency
- p.Phe198fs No assertion criteria short chain acyl-CoA dehydrogenase deficiency
- p.Trp139Ter No assertion criteria short chain acyl-CoA dehydrogenase deficiency
Conflicting classifications of pathogenicity 39
- c.473-9T>G Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.624+11C>T Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.624+8C>T Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.*4C>T Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Ala110Thr Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala138Val Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala172= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Ala192Val Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala302= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Ala302Val Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala331Thr Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala352Thr Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala385Ser Single submitter Inborn genetic diseases ⚠
- p.Ala403= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Ala49= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Arg383His Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Arg386Cys Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Arg386His Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Arg399Gln Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Cys109= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Cys109_Ala110delinsSer Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Gly108Ser Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly131Arg Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly221= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Gly271Val Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly274Ser Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly368= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Gly371Val Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly75= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Ile275= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Met370Val Single submitter type 2 diabetes mellitus ⚠
- p.Pro377Leu Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ser155= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Ser193Leu Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Thr169Pro Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Thr223= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Thr37fs Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Trp139Cys Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly108Asp No assertion criteria short chain acyl-CoA dehydrogenase deficiency ⚠
Benign 22
- c.1029+52C>T Multiple submitters
- c.1030-41G>A Multiple submitters
- c.211-24C>T Multiple submitters
- c.473-116T>C Multiple submitters
- c.473-30G>A Multiple submitters
- c.473-80G>C Multiple submitters
- c.625-99T>C Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- c.934-74C>T Multiple submitters
- c.*21G>C Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- c.*249G>A Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- c.*310C>G Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- c.*387A>G Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- c.*527A>G Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- c.*5G>A Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- p.Arg107= Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- p.Arg330= Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- p.Asn120= Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- p.Thr141= Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- c.1029+89dup Single submitter
- c.47-177C>T Single submitter
- c.*500G>A Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Phe261= Single submitter
Benign/Likely benign 8
- c.1087-17C>A Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- c.625-83G>A Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- c.796-14G>C Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- c.*115G>A Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- p.Arg171Trp Multiple submitters short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly174= Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- p.Gly209Ser Multiple submitters Inborn genetic diseases
- p.Pro218= Multiple submitters
Likely benign 120
- c.1029+20A>C Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- c.473-149T>G Multiple submitters
- c.473-155C>A Multiple submitters
- c.473-78G>A Multiple submitters
- c.795+9G>A Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- p.Asp83= Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- p.Gly89= Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- p.Leu96= Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- p.Phe300= Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- p.Thr219Ser Multiple submitters ⚠
- p.Tyr293= Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- c.1029+18C>T Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.1029+19G>A Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.1029+36G>A Single submitter
- c.1030-13C>T Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.1030-20G>A Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.1030-6G>A Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.1030-9C>T Single submitter
- c.1086+19C>A Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.210+13C>A Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.210+13C>T Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.211-17T>C Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.211-18G>A Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.360+10C>T Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.360+15A>G Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.360+16G>A Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.360+19C>G Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.360+20C>T Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.360+21C>G Single submitter
- c.360+8C>G Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.361-10G>C Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.361-13G>A Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.361-20G>A Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.46+15G>A Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.46+16A>C Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.46+20G>C Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.46+3G>C Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.46+8C>A Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.46+9G>T Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.47-14G>C Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.47-17T>C Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.472+9C>G Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.473-7T>C Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.624+19G>A Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.624+19G>C Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.625-10C>T Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.625-14G>A Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.625-15C>T Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.625-7C>T Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.625-8C>A Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.795+14T>C Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.795+8C>T Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.795+9G>T Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.796-12C>T Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.933+14C>G Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.934-11G>A Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.934-18G>C Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.*200C>T Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Ala138= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Ala163= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Ala166= Single submitter Inborn genetic diseases
- p.Ala192= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Ala195= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Ala204= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Ala212= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Ala299= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Ala331= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Ala351= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Ala355= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Ala68= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Ala81= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Ala9= Single submitter
- p.Arg23= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Arg234= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Arg383= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Asn159= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Asn180= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Asn296= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Asp384= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Glu134= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Glu389= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Glu87= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Gly125= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Gly393= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Gly404Arg Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Gly76= Single submitter
- p.Ile273= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Ile390= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Leu224= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Leu231= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Leu280= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Leu287= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Leu326= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Leu327= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Leu350= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Leu400Val Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Leu42= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Lys133= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Lys262= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Pro377= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Pro85= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Ser176= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Ser193= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Ser395= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Thr144= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Thr169= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Thr201= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Thr219= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Thr267= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Thr285= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Thr328= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Thr357= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Tyr29= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Tyr372= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Tyr391= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Tyr95= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Tyr98= Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.625-89G>A No assertion criteria ACADS-related disorder
- c.-13GT[1] No assertion criteria ACADS-related disorder
- p.Arg8= No assertion criteria ACADS-related disorder
Uncertain significance 202
- c.47-6C>A Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- c.795+6C>T Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- c.-56C>G Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- c.*27C>T Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- p.Ala170Ser Multiple submitters short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala170Thr Multiple submitters short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala276Thr Multiple submitters short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala294Thr Multiple submitters short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala315del Multiple submitters short chain acyl-CoA dehydrogenase deficiency
- p.Ala320Ser Multiple submitters short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala68Val Multiple submitters short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Arg399Trp Multiple submitters short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Arg411Trp Multiple submitters short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Asn159Lys Multiple submitters short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Asp94Asn Multiple submitters short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Glu156Lys Multiple submitters short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Glu244Lys Multiple submitters short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Glu379Gln Multiple submitters short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly113Arg Multiple submitters ACADS-related disorder ⚠
- p.Gly150Val Multiple submitters short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly225Arg Multiple submitters short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly281Ala Multiple submitters short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly369Ser Multiple submitters short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ile105Asn Multiple submitters short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Leu154Arg Multiple submitters short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Leu154Phe Multiple submitters short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Leu53Val Multiple submitters short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Pro142Arg Multiple submitters short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ser111Phe Multiple submitters ACADS-related disorder ⚠
- p.Ser161Gly Multiple submitters short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ser353Pro Multiple submitters short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Thr201Met Multiple submitters short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Thr219Met Multiple submitters short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Thr223Met Multiple submitters short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Trp22Leu Multiple submitters short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Val84Met Multiple submitters short chain acyl-CoA dehydrogenase deficiency ⚠
- c.1029+6del Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.1030-3_1044dup Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.1086+5G>A Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.360+49C>T Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.360+6C>G Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.361-14C>A Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.472+4C>A Single submitter
- c.473-5G>A Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.624+5G>A Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.625-132G>T Single submitter
- c.625-3C>T Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.795+4A>G Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.796-11G>A Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.933+3A>T Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.933+5T>C Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.934-5T>A Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.-56C>T Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.*10G>A Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.*162C>T Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.*174G>C Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.*178C>T Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.*235C>T Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.*266G>T Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.*305C>A Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.*37C>T Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.*573G>C Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.*86C>T Single submitter short chain acyl-CoA dehydrogenase deficiency
- c.*91G>T Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Ala101Thr Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala13Val Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala165Val Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala166Val Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala16Val Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala184= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Ala189= Single submitter
- p.Ala204Pro Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala212Asp Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala212Gly Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala276Ser Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala283Val Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala286Thr Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala290Pro Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala302Glu Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala332Val Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala345Ser Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala355Val Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala356Thr Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala356Val Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala358Ser Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala358Thr Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala385Thr Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala403Thr Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala57Val Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala81Val Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala99Thr Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Arg107His Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Arg14Gly Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Arg14His Single submitter ⚠
- p.Arg15Gly Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Arg20Gly Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Arg20Lys Single submitter Inborn genetic diseases ⚠
- p.Arg234Trp Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Arg23Gln Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Arg23Pro Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Arg23Trp Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Arg247Cys Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Arg247Leu Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Arg297Cys Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Arg330Leu Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Arg383Leu Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Arg411Gln Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Asn120del Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Asn120Ser Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Asn207Ser Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Asn337Lys Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Asp175Asn Single submitter ⚠
- p.Asp288Tyr Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Asp316_Ala318del Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Asp336Tyr Single submitter ⚠
- p.Cys109Arg Single submitter ⚠
- p.Gln135Arg Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gln137Glu Single submitter ⚠
- p.Gln206Pro Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gln266Glu Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gln362Glu Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Glu228Ala Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Glu396Lys Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Glu52del Single submitter
- p.Glu63Asp Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Glu87Lys Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly160Ser Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly181Glu Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly225Glu Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly235Arg Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly258Glu Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly260Cys Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly274Asp Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly281Val Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly368Ser Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly371Ala Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly76Arg Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly76Trp Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly90Ser Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.His381Asn Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.His381Leu Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.His64Arg Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ile100Val Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ile127Thr Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ile186Asn Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ile273Val Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ile275Phe Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ile342Thr Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ile359Met Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ile390Asn Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Leu122Phe Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Leu17Pro Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Leu231Val Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Leu241Ile Single submitter ⚠
- p.Leu254Val Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Leu287Phe Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Leu304Phe Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Leu321_Ala324del Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Leu321Pro Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Leu65Ile Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Lys339del Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Lys343Arg Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Lys51Arg Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Lys51del Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Lys72Arg Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Lys73del Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Met102Val Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Met116Thr Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Met217Thr Single submitter ⚠
- p.Met259Val Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Met40Leu Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Met74Ile Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Met82Leu Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Phe54Ser Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ser121Cys Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ser145Ile Single submitter ⚠
- p.Ser236Leu Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ser360Gly Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ser409Thr Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Thr112= Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Thr141Met Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Thr144Ile Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Thr144Pro Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Thr219Arg Single submitter ⚠
- p.Thr238Ala Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Thr27Ile Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Thr328del Single submitter short chain acyl-CoA dehydrogenase deficiency
- p.Thr357Asn Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Tyr29Cys Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Tyr391Cys Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Val118Ile Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Val32Met Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Val373Met Single submitter short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Ala153_Leu154insGln No assertion criteria short chain acyl-CoA dehydrogenase deficiency
- p.His405fs No assertion criteria short chain acyl-CoA dehydrogenase deficiency
- p.Leu93Ile No assertion criteria short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Met317_Ala318dup No assertion criteria short chain acyl-CoA dehydrogenase deficiency
- p.Phe143Ser No assertion criteria ACADS-related disorder ⚠
- p.Ser155dup No assertion criteria short chain acyl-CoA dehydrogenase deficiency
- p.Ser395fs No assertion criteria short chain acyl-CoA dehydrogenase deficiency
- p.Thr27Pro No assertion criteria short chain acyl-CoA dehydrogenase deficiency ⚠
- p.Tyr382Ter No assertion criteria short chain acyl-CoA dehydrogenase deficiency