HADH — 365 ClinVar variants
All ClinVar germline HADH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 92 flagged for review →
13 Pathogenic · 3 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 50 Conflicting · 22 Benign · 13 Benign/Likely benign · 160 Likely benign · 90 Uncertain significance
Full HADH gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 92
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 11
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
HADH p.Arg221His
Conflicting
Single submitter
monogenic diabetes
-
HADH p.Asn294Ser
Conflicting
Single submitter
hyperinsulinemic hypoglycemia
-
HADH p.Asp275Glu
Conflicting
Single submitter
hyperinsulinemic hypoglycemia, familial, 4
-
HADH p.Gln152His
Conflicting
Single submitter
monogenic diabetes
-
HADH p.Glu94Gln
Conflicting
Single submitter
hyperinsulinemic hypoglycemia
-
HADH p.Gly303Ser
Conflicting
Single submitter
3-hydroxyacyl-CoA dehydrogenase deficiency
-
HADH p.Gly303Val
Conflicting
Single submitter
3-hydroxyacyl-CoA dehydrogenase deficiency
-
HADH p.Lys127Arg
Conflicting
Single submitter
hyperinsulinemic hypoglycemia
-
HADH p.Tyr226His
Conflicting
Single submitter
HADH-related disorder
-
HADH p.Val117Leu
Conflicting
Single submitter
Abnormal brain morphology
-
HADH p.Val274Met
Conflicting
Single submitter
hyperinsulinemic hypoglycemia
Predictors lean, ClinVar uncertain 54
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
HADH p.Glu235Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HADH p.Gly34Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HADH p.His141Arg
Uncertain significance
Multiple submitters
3-hydroxyacyl-CoA dehydrogenase deficiency
-
HADH p.Ile42Met
Uncertain significance
Multiple submitters
3-hydroxyacyl-CoA dehydrogenase deficiency
-
HADH p.Lys136Glu
Uncertain significance
Multiple submitters
hyperinsulinemic hypoglycemia, familial, 4
-
HADH p.Thr104Met
Uncertain significance
Multiple submitters
3-hydroxyacyl-CoA dehydrogenase deficiency
-
HADH p.Thr17Ile
Uncertain significance
Multiple submitters
3-hydroxyacyl-CoA dehydrogenase deficiency
-
HADH p.Thr269Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HADH p.Val109Ile
Uncertain significance
Multiple submitters
3-hydroxyacyl-CoA dehydrogenase deficiency
-
HADH p.Arg221Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
HADH p.Asn173His
Uncertain significance
Single submitter
Inborn genetic diseases
-
HADH p.Asn85Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- HADH p.Asp114Tyr Uncertain significance Single submitter
-
HADH p.Asp164Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
HADH p.Asp268Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- HADH p.Asp90Asn Uncertain significance Single submitter
-
HADH p.Glu140Asp
Uncertain significance
Single submitter
3-hydroxyacyl-CoA dehydrogenase deficiency
-
HADH p.Gly36Arg
Uncertain significance
Single submitter
3-hydroxyacyl-CoA dehydrogenase deficiency
- HADH p.His170Arg Uncertain significance Single submitter
-
HADH p.His278Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
HADH p.His278Tyr
Uncertain significance
Single submitter
3-hydroxyacyl-CoA dehydrogenase deficiency
-
HADH p.His51Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
HADH p.Ile143Val
Uncertain significance
Single submitter
3-hydroxyacyl-CoA dehydrogenase deficiency
-
HADH p.Ile184Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
HADH p.Ile273Val
Uncertain significance
Single submitter
3-hydroxyacyl-CoA dehydrogenase deficiency
- HADH p.Ile62Val Uncertain significance Single submitter
-
HADH p.Leu197Trp
Uncertain significance
Single submitter
3-hydroxyacyl-CoA dehydrogenase deficiency
-
HADH p.Leu74Phe
Uncertain significance
Single submitter
3-hydroxyacyl-CoA dehydrogenase deficiency
-
HADH p.Lys68Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
HADH p.Met178Lys
Uncertain significance
Single submitter
3-hydroxyacyl-CoA dehydrogenase deficiency
-
HADH p.Met188Val
Uncertain significance
Single submitter
hyperinsulinemic hypoglycemia, familial, 4
-
HADH p.Met280Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
HADH p.Met9Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
HADH p.Phe172Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
HADH p.Phe302Leu
Uncertain significance
Single submitter
3-hydroxyacyl-CoA dehydrogenase deficiency
-
HADH p.Phe3Ser
Uncertain significance
Single submitter
3-hydroxyacyl-CoA dehydrogenase deficiency
-
HADH p.Pro176Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
HADH p.Ser103Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- HADH p.Ser11Cys Uncertain significance Single submitter
-
HADH p.Ser11Phe
Uncertain significance
Single submitter
3-hydroxyacyl-CoA dehydrogenase deficiency
-
HADH p.Ser146Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
HADH p.Ser292Phe
Uncertain significance
Single submitter
3-hydroxyacyl-CoA dehydrogenase deficiency
-
HADH p.Ser73Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
HADH p.Thr142Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
HADH p.Thr142Lys
Uncertain significance
Single submitter
3-hydroxyacyl-CoA dehydrogenase deficiency
-
HADH p.Thr148Ile
Uncertain significance
Single submitter
3-hydroxyacyl-CoA dehydrogenase deficiency
-
HADH p.Thr186Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
HADH p.Thr269Ala
Uncertain significance
Single submitter
3-hydroxyacyl-CoA dehydrogenase deficiency
-
HADH p.Val12Met
Uncertain significance
Single submitter
3-hydroxyacyl-CoA dehydrogenase deficiency
- HADH p.Val175Met Uncertain significance Single submitter
- HADH p.Val30Glu Uncertain significance Single submitter
- HADH p.Val32Phe Uncertain significance Single submitter
-
HADH p.Val45Ala
Uncertain significance
Single submitter
3-hydroxyacyl-CoA dehydrogenase deficiency
- HADH p.Met38Val Uncertain significance No assertion criteria
Predictors split 27
The independent predictors disagree with each other — read with care.
-
HADH p.Ala239Ser
Uncertain significance
Multiple submitters
3-hydroxyacyl-CoA dehydrogenase deficiency
-
HADH p.Phe166Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HADH p.Pro215Ser
Uncertain significance
Multiple submitters
3-hydroxyacyl-CoA dehydrogenase deficiency
-
HADH p.Ala106Thr
Uncertain significance
Single submitter
3-hydroxyacyl-CoA dehydrogenase deficiency
-
HADH p.Ala230Thr
Conflicting
Single submitter
hyperinsulinemic hypoglycemia
- HADH p.Ala252Thr Uncertain significance Single submitter
-
HADH p.Arg236Gln
Uncertain significance
Single submitter
3-hydroxyacyl-CoA dehydrogenase deficiency
-
HADH p.Asp199Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
HADH p.Glu129Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
HADH p.Glu242Gly
Conflicting
Single submitter
hyperinsulinemic hypoglycemia
-
HADH p.Glu308Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
HADH p.Gly205Ala
Conflicting
Single submitter
monogenic diabetes
-
HADH p.Gly253Ser
Uncertain significance
Single submitter
3-hydroxyacyl-CoA dehydrogenase deficiency
-
HADH p.Gly266Arg
Uncertain significance
Single submitter
3-hydroxyacyl-CoA dehydrogenase deficiency
-
HADH p.His141Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
HADH p.Ile33Met
Conflicting
Single submitter
3-hydroxyacyl-CoA dehydrogenase deficiency
-
HADH p.Lys95Glu
Uncertain significance
Single submitter
3-hydroxyacyl-CoA dehydrogenase deficiency
-
HADH p.Met256Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
HADH p.Met38Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
HADH p.Pro215Thr
Conflicting
Single submitter
hyperinsulinemic hypoglycemia
-
HADH p.Pro289Arg
Uncertain significance
Single submitter
3-hydroxyacyl-CoA dehydrogenase deficiency
-
HADH p.Pro289Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- HADH p.Ser108Phe Uncertain significance Single submitter
-
HADH p.Ser150Phe
Uncertain significance
Single submitter
3-hydroxyacyl-CoA dehydrogenase deficiency
-
HADH p.Thr269Ile
Uncertain significance
Single submitter
3-hydroxyacyl-CoA dehydrogenase deficiency
-
HADH p.Tyr254Cys
Conflicting
Single submitter
hyperinsulinemic hypoglycemia
- HADH p.Tyr264His Uncertain significance Single submitter
All HADH variants
Pathogenic 13
- c.419+1G>A Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Ala22fs Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Arg165Ter Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Asn123_Leu124insTer Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.His287fs Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Leu222fs Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Phe172fs Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Phe259fs Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Pro285fs Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Ser103fs Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.547-3_549del No assertion criteria hyperinsulinemic hypoglycemia, familial, 4
- c.636+471G>T No assertion criteria hyperinsulinemic hypoglycemia, familial, 4
- p.Pro258Leu No assertion criteria hyperinsulinemic hypoglycemia, familial, 4
Pathogenic/Likely pathogenic 3
- c.261+1G>A Multiple submitters 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Arg236Ter Multiple submitters 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Ile70fs Multiple submitters 3-hydroxyacyl-CoA dehydrogenase deficiency
Likely pathogenic 14
- c.262-2A>G Multiple submitters 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.709+2T>C Multiple submitters 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Gly34Arg Multiple submitters familial hyperinsulinism
- c.132+1G>A Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.261+2T>A Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.419+1G>C Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.636+2_636+3insCT Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.636+2T>C Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.710-1G>A Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Ala145Asp Single submitter hyperinsulinemic hypoglycemia, familial, 4
- p.Gln44Ter Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Glu91Ter Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Thr142fs Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Val56fs Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
Conflicting classifications of pathogenicity 50
- c.132+6C>G Single submitter hyperinsulinemic hypoglycemia, familial, 4
- c.132+7G>T Single submitter hyperinsulinemic hypoglycemia
- c.133-15C>T Single submitter hyperinsulinemic hypoglycemia, familial, 4
- c.419+39del Single submitter hyperinsulinemic hypoglycemia
- c.710-14C>T Single submitter hyperinsulinemic hypoglycemia, familial, 4
- c.710-822C>T Single submitter hyperinsulinemic hypoglycemia
- c.710-845C>G Single submitter hyperinsulinemic hypoglycemia
- c.-102G>A Single submitter hyperinsulinemic hypoglycemia
- c.-203A>G Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.-34C>T Single submitter hyperinsulinemic hypoglycemia
- c.-36C>T Single submitter hyperinsulinemic hypoglycemia
- c.-56C>A Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.*142G>A Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.*168A>T Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.*279C>A Single submitter hyperinsulinemic hypoglycemia
- c.*305T>A Single submitter hyperinsulinemic hypoglycemia
- c.*335C>A Single submitter hyperinsulinemic hypoglycemia
- c.*377G>A Single submitter hyperinsulinemic hypoglycemia
- c.*383G>C Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.*514A>G Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.*59G>A Single submitter hyperinsulinemic hypoglycemia
- c.*600C>T Single submitter hyperinsulinemic hypoglycemia, familial, 4
- p.Ala230Thr Single submitter hyperinsulinemic hypoglycemia ⚠
- p.Ala88= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Arg162= Single submitter hyperinsulinemic hypoglycemia
- p.Arg221His Single submitter monogenic diabetes ⚠
- p.Arg232= Single submitter hyperinsulinemic hypoglycemia
- p.Asn294Ser Single submitter hyperinsulinemic hypoglycemia ⚠
- p.Asp275Glu Single submitter hyperinsulinemic hypoglycemia, familial, 4 ⚠
- p.Gln152His Single submitter monogenic diabetes ⚠
- p.Gln7= Single submitter hyperinsulinemic hypoglycemia
- p.Glu242Gly Single submitter hyperinsulinemic hypoglycemia ⚠
- p.Glu94Gln Single submitter hyperinsulinemic hypoglycemia ⚠
- p.Gly205Ala Single submitter monogenic diabetes ⚠
- p.Gly303Ser Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
- p.Gly303Val Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
- p.Ile33Met Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
- p.Lys125fs Single submitter hyperinsulinemic hypoglycemia
- p.Lys127Arg Single submitter hyperinsulinemic hypoglycemia ⚠
- p.Lys206fs Single submitter hyperinsulinemic hypoglycemia
- p.Lys24= Single submitter hyperinsulinemic hypoglycemia
- p.Lys79= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Lys80= Single submitter hyperinsulinemic hypoglycemia
- p.Pro215Thr Single submitter hyperinsulinemic hypoglycemia ⚠
- p.Thr193= Single submitter hyperinsulinemic hypoglycemia
- p.Tyr226His Single submitter HADH-related disorder ⚠
- p.Tyr254Cys Single submitter hyperinsulinemic hypoglycemia ⚠
- p.Val117Leu Single submitter Abnormal brain morphology ⚠
- p.Val274Met Single submitter hyperinsulinemic hypoglycemia ⚠
- p.Val53= Single submitter hyperinsulinemic hypoglycemia, familial, 4
Benign 22
- c.419+127G>A Multiple submitters
- c.419+21C>A Multiple submitters
- c.419+26T>C Multiple submitters
- c.547-51C>T Multiple submitters
- c.636+102C>T Multiple submitters
- c.636+127A>G Multiple submitters
- c.710-240T>C Multiple submitters
- c.710-262G>A Multiple submitters
- c.710-656T>A Multiple submitters
- p.Leu86Pro Multiple submitters 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.133-304A>G Single submitter
- c.261+107dup Single submitter
- c.419+226C>G Single submitter
- c.419+25_419+26insC Single submitter
- c.419+27T>C Single submitter
- c.636+351C>A Single submitter
- c.636+385A>G Single submitter
- c.710-1045_710-1041del Single submitter
- c.710-319C>G Single submitter
- c.827-245C>T Single submitter
- c.827-275G>T Single submitter
- p.Leu86= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
Benign/Likely benign 13
- c.261+16C>T Multiple submitters 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.636+13G>A Multiple submitters 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.-193G>A Multiple submitters hyperinsulinemic hypoglycemia, familial, 4
- c.-38T>C Multiple submitters hyperinsulinemic hypoglycemia
- c.-65G>A Multiple submitters hyperinsulinemic hypoglycemia
- c.-71C>T Multiple submitters hyperinsulinemic hypoglycemia
- c.*109T>A Multiple submitters hyperinsulinemic hypoglycemia
- c.*818A>G Multiple submitters hyperinsulinemic hypoglycemia, familial, 4
- p.Asn128= Multiple submitters hyperinsulinemic hypoglycemia
- p.Leu97= Multiple submitters hyperinsulinemic hypoglycemia
- p.Phe92Cys Multiple submitters Inborn genetic diseases
- p.Ser108= Multiple submitters 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Val265= Multiple submitters 3-hydroxyacyl-CoA dehydrogenase deficiency
Likely benign 160
- c.132+89A>G Multiple submitters
- c.261+135C>T Multiple submitters
- c.261+17G>A Multiple submitters 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.262-34G>A Multiple submitters
- c.419+57T>A Multiple submitters
- c.546+9G>A Multiple submitters 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.636+20G>A Multiple submitters 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.710-18C>T Multiple submitters 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.827-10C>T Multiple submitters 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Ala40= Multiple submitters 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Ala48= Multiple submitters 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Asp213= Multiple submitters 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Pro258= Multiple submitters 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Thr189= Multiple submitters 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.132+11C>T Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.132+15C>A Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.132+16T>A Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.132+19A>G Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.133-19T>C Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.133-20T>G Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.261+10T>C Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.261+12_261+19dup Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.261+12T>C Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.261+15T>A Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.261+161A>G Single submitter
- c.261+16C>A Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.261+16C>G Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.261+18A>T Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.261+19T>A Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.261+20G>A Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.261+7T>A Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.261+8C>G Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.261+8C>T Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.262-19C>T Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.262-5A>C Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.262-5A>G Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.262-6C>T Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.262-8T>C Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.419+12C>G Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.419+14G>A Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.419+16A>T Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.419+18A>G Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.419+19A>G Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.420-10C>T Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.420-17A>G Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.420-19C>T Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.420-4A>G Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.546+13C>T Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.546+15G>T Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.546+18dup Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.547-10G>T Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.547-11T>C Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.547-19C>A Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.547-19C>T Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.636+16G>A Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.636+16G>T Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.636+18T>C Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.636+315A>G Single submitter
- c.636+7G>C Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.637-10C>T Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.637-13T>C Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.637-18T>C Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.637-20T>C Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.637-7A>C Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.709+17G>A Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.709+18G>A Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.709+8T>A Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.710-11T>A Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.710-11T>G Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.710-13G>A Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.710-14_710-11dup Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.710-15C>T Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.710-19G>A Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.710-790A>C Single submitter
- c.710-857C>T Single submitter
- c.710-9T>C Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.826+13del Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.826+20G>A Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.826+8T>C Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.827-18C>T Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.827-20C>G Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.827-20C>T Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.827-4A>C Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.827-9G>A Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.*660_*661del Single submitter hyperinsulinemic hypoglycemia, familial, 4
- p.Ala138= Single submitter
- p.Ala18= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Ala203Thr Single submitter Inborn genetic diseases
- p.Ala252= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Ala282= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Ala47= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Ala83= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Arg221= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Arg6= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Asn85= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Asp105= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Asp238= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Asp268= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Gln163= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Glu122= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Glu299= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Glu60= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Gly205= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Gly257= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Gly276= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Gly303= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Gly307= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Gly39= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Gly41= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Gly50= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Gly89= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.His29= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.His51= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Ile120= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Ile273= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Ile33= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Ile42= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Leu130= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Leu180= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Leu204= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Leu55= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Lys127= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Phe166= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Phe200= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Phe217= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Phe302= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Phe82= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Pro255= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Pro291= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Ser112= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Ser13= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Ser149= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Ser150= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Ser16= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Ser196= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Ser21= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Thr102= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Thr104= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Thr113= Single submitter
- p.Thr142= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Thr214= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Thr269= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Thr270= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Thr306= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Thr31= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Thr52= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Val109= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Val117= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Val175= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Val198= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Val54= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- c.709+32A>G No assertion criteria HADH-related disorder
- c.709+33C>T No assertion criteria HADH-related disorder
- c.709+35_709+36insG No assertion criteria HADH-related disorder
- c.709+37A>T No assertion criteria HADH-related disorder
- c.710-791G>C No assertion criteria HADH-related disorder
- c.-5AC[1] No assertion criteria HADH-related disorder
- p.Gly35= No assertion criteria HADH-related disorder
- p.Lys179= No assertion criteria HADH-related disorder
- p.Thr5= No assertion criteria HADH-related disorder
Uncertain significance 90
- p.Ala239Ser Multiple submitters 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
- p.Glu235Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly34Ser Multiple submitters Inborn genetic diseases ⚠
- p.His141Arg Multiple submitters 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
- p.Ile42Met Multiple submitters 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
- p.Lys136Glu Multiple submitters hyperinsulinemic hypoglycemia, familial, 4 ⚠
- p.Lys81Asn Multiple submitters Inborn genetic diseases
- p.Phe166Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Pro215Ser Multiple submitters 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
- p.Thr104Met Multiple submitters 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
- p.Thr17Ile Multiple submitters 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
- p.Thr269Ser Multiple submitters Inborn genetic diseases ⚠
- p.Val109Ile Multiple submitters 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
- c.133-4945T>C Single submitter
- c.710-819G>A Single submitter
- c.710-822C>A Single submitter hyperinsulinemic hypoglycemia, familial, 4
- c.-195A>C Single submitter hyperinsulinemic hypoglycemia, familial, 4
- c.-195A>G Single submitter hyperinsulinemic hypoglycemia, familial, 4
- p.Ala106Thr Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
- p.Ala22_Lys23del Single submitter Inborn genetic diseases
- p.Ala252Thr Single submitter ⚠
- p.Arg10Cys Single submitter Inborn genetic diseases
- p.Arg221Cys Single submitter Inborn genetic diseases ⚠
- p.Arg236Gln Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
- p.Asn173His Single submitter Inborn genetic diseases ⚠
- p.Asn85Asp Single submitter Inborn genetic diseases ⚠
- p.Asp114Tyr Single submitter ⚠
- p.Asp164Val Single submitter Inborn genetic diseases ⚠
- p.Asp199Gly Single submitter Inborn genetic diseases ⚠
- p.Asp268Gly Single submitter Inborn genetic diseases ⚠
- p.Asp275= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Asp281fs Single submitter
- p.Asp90Asn Single submitter ⚠
- p.Gln288Pro Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Gln44= Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Gln58Pro Single submitter Inborn genetic diseases
- p.Glu129Gln Single submitter Inborn genetic diseases ⚠
- p.Glu140Asp Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
- p.Glu308Lys Single submitter Inborn genetic diseases ⚠
- p.Gly253Ser Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
- p.Gly266Arg Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
- p.Gly36Arg Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
- p.His141Tyr Single submitter Inborn genetic diseases ⚠
- p.His170Arg Single submitter ⚠
- p.His278Asn Single submitter Inborn genetic diseases ⚠
- p.His278Tyr Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
- p.His51Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile143Val Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
- p.Ile184Val Single submitter Inborn genetic diseases ⚠
- p.Ile273Val Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
- p.Ile62Val Single submitter ⚠
- p.Leu130Phe Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Leu197Trp Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
- p.Leu74Phe Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
- p.Lys68Asn Single submitter Inborn genetic diseases ⚠
- p.Lys81del Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency
- p.Lys95Glu Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
- p.Met178Lys Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
- p.Met188Val Single submitter hyperinsulinemic hypoglycemia, familial, 4 ⚠
- p.Met256Leu Single submitter Inborn genetic diseases ⚠
- p.Met280Val Single submitter Inborn genetic diseases ⚠
- p.Met38Leu Single submitter Inborn genetic diseases ⚠
- p.Met9Leu Single submitter Inborn genetic diseases ⚠
- p.Phe172Val Single submitter Inborn genetic diseases ⚠
- p.Phe302Leu Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
- p.Phe3Ser Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
- p.Pro176Ser Single submitter Inborn genetic diseases ⚠
- p.Pro289Arg Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
- p.Pro289Ser Single submitter Inborn genetic diseases ⚠
- p.Ser103Thr Single submitter Inborn genetic diseases ⚠
- p.Ser108Phe Single submitter ⚠
- p.Ser11Cys Single submitter ⚠
- p.Ser11Phe Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
- p.Ser146Arg Single submitter Inborn genetic diseases ⚠
- p.Ser150Phe Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
- p.Ser292Phe Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
- p.Ser73Arg Single submitter Inborn genetic diseases ⚠
- p.Thr142Ala Single submitter Inborn genetic diseases ⚠
- p.Thr142Lys Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
- p.Thr148Ile Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
- p.Thr186Ala Single submitter Inborn genetic diseases ⚠
- p.Thr269Ala Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
- p.Thr269Ile Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
- p.Tyr264His Single submitter ⚠
- p.Val12Met Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
- p.Val175Met Single submitter ⚠
- p.Val30Glu Single submitter ⚠
- p.Val32Phe Single submitter ⚠
- p.Val45Ala Single submitter 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
- p.Met38Val No assertion criteria ⚠