HADHA — 1138 ClinVar variants

All ClinVar germline HADHA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 255 flagged for review →

77 Pathogenic · 44 Pathogenic/Likely pathogenic · 112 Likely pathogenic · 39 Conflicting · 51 Benign · 11 Benign/Likely benign · 523 Likely benign · 281 Uncertain significance

Full HADHA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 255

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 16

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

HADHA p.Ala270Val Conflicting Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Ala392Thr Conflicting Single submitter
Inborn genetic diseases
HADHA p.Ala473Asp Conflicting Single submitter
mitochondrial trifunctional protein deficiency 1
HADHA p.Ala6Thr Conflicting Single submitter
Inborn genetic diseases
HADHA p.Ala739Pro Conflicting Single submitter
Inborn genetic diseases
HADHA p.Arg291Gln Conflicting Single submitter
Inborn genetic diseases
HADHA p.Arg610Gly Conflicting Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Arg676Leu Conflicting Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Asn142Ser Conflicting Single submitter
mitochondrial trifunctional protein deficiency
HADHA p.Asn649Lys Conflicting Single submitter
mitochondrial trifunctional protein deficiency
HADHA p.Asp360Glu Conflicting Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Gly703Arg Conflicting Single submitter
mitochondrial trifunctional protein deficiency 1
HADHA p.Ile559Val Conflicting Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Ser73Pro Conflicting Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Val218Leu Conflicting Single submitter
mitochondrial trifunctional protein deficiency
HADHA p.Val705Asp Conflicting Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Predictors lean, ClinVar uncertain 118

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

HADHA p.Ala108Asp Uncertain significance Multiple submitters
Inborn genetic diseases
HADHA p.Ala248Val Uncertain significance Multiple submitters
mitochondrial trifunctional protein deficiency
HADHA p.Ala657Ser Uncertain significance Multiple submitters
mitochondrial trifunctional protein deficiency
HADHA p.Ala6Pro Uncertain significance Multiple submitters
mitochondrial trifunctional protein deficiency
HADHA p.Arg187Thr Uncertain significance Multiple submitters
Inborn genetic diseases
HADHA p.Arg235Gln Uncertain significance Multiple submitters
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Arg5Trp Uncertain significance Multiple submitters
mitochondrial trifunctional protein deficiency
HADHA p.Arg610Gln Uncertain significance Multiple submitters
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Arg630His Uncertain significance Multiple submitters
Inborn genetic diseases
HADHA p.Arg732Gln Uncertain significance Multiple submitters
Inborn genetic diseases
HADHA p.Asp653Gly Uncertain significance Multiple submitters
Inborn genetic diseases
HADHA p.Asp731Glu Uncertain significance Multiple submitters
mitochondrial trifunctional protein deficiency
HADHA p.Gln532His Uncertain significance Multiple submitters
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Glu335Lys Uncertain significance Multiple submitters
mitochondrial trifunctional protein deficiency
HADHA p.Gly147Arg Uncertain significance Multiple submitters
HADHA-related disorder
HADHA p.Gly328Arg Uncertain significance Multiple submitters
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Ile25Val Uncertain significance Multiple submitters
Inborn genetic diseases
HADHA p.Ile304Thr Uncertain significance Multiple submitters
Inborn genetic diseases
HADHA p.Ile388Leu Uncertain significance Multiple submitters
mitochondrial trifunctional protein deficiency
HADHA p.Ile638Val Uncertain significance Multiple submitters
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Lys163Asn Uncertain significance Multiple submitters
Inborn genetic diseases
HADHA p.Met106Val Uncertain significance Multiple submitters
mitochondrial trifunctional protein deficiency
HADHA p.Pro711Thr Uncertain significance Multiple submitters
Inborn genetic diseases
HADHA p.Tyr546Cys Uncertain significance Multiple submitters
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Val503Gly Uncertain significance Multiple submitters
HADHA-related disorder
HADHA p.Val503Met Uncertain significance Multiple submitters
Inborn genetic diseases
HADHA p.Ala100Gly Uncertain significance Single submitter
HADHA p.Ala102Val Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Ala270Thr Uncertain significance Single submitter
mitochondrial trifunctional protein deficiency
HADHA p.Ala3Thr Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Ala478Pro Uncertain significance Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Ala552Val Uncertain significance Single submitter
mitochondrial trifunctional protein deficiency
HADHA p.Ala6Glu Uncertain significance Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Ala81Thr Uncertain significance Single submitter
mitochondrial trifunctional protein deficiency
HADHA p.Ala88Val Uncertain significance Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Arg159Gly Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Arg187Ser Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Arg630Gly Uncertain significance Single submitter
mitochondrial trifunctional protein deficiency
HADHA p.Arg630Pro Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Asn42Ser Uncertain significance Single submitter
HADHA p.Asp199Tyr Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Asp442Val Uncertain significance Single submitter
mitochondrial trifunctional protein deficiency
HADHA p.Asp647His Uncertain significance Single submitter
mitochondrial trifunctional protein deficiency
HADHA p.Cys156Tyr Uncertain significance Single submitter
mitochondrial trifunctional protein deficiency
HADHA p.Cys4Gly Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Cys688Tyr Uncertain significance Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Gln121Arg Uncertain significance Single submitter
mitochondrial trifunctional protein deficiency
HADHA p.Glu323Val Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Glu590Lys Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Glu737Gln Uncertain significance Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Gly170Asp Uncertain significance Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Gly250Glu Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Gly315Glu Uncertain significance Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Gly370Arg Uncertain significance Single submitter
HADHA p.Gly44Arg Uncertain significance Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Gly542Glu Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Gly583Asp Uncertain significance Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Gly707Arg Uncertain significance Single submitter
Seckel syndrome 6
HADHA p.Gly716Arg Uncertain significance Single submitter
HADHA p.His344Leu Uncertain significance Single submitter
HADHA p.Ile104Thr Uncertain significance Single submitter
HADHA p.Ile237Met Uncertain significance Single submitter
mitochondrial trifunctional protein deficiency
HADHA p.Ile245Ser Uncertain significance Single submitter
mitochondrial trifunctional protein deficiency
HADHA p.Ile445Phe Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Ile512Thr Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Ile536Thr Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Ile54Ser Uncertain significance Single submitter
mitochondrial trifunctional protein deficiency
HADHA p.Ile729Val Uncertain significance Single submitter
mitochondrial trifunctional protein deficiency
HADHA p.Leu119Pro Uncertain significance Single submitter
HADHA p.Leu217Arg Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Leu251Arg Uncertain significance Single submitter
HADHA p.Leu530His Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Leu551Arg Uncertain significance Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Leu603Pro Uncertain significance Single submitter
mitochondrial trifunctional protein deficiency
HADHA p.Leu90Arg Uncertain significance Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Lys129Arg Uncertain significance Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Lys132Glu Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Lys267Arg Uncertain significance Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Lys631Ile Uncertain significance Single submitter
HADHA p.Lys94Asn Uncertain significance Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Met191Ile Uncertain significance Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Met200Thr Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Phe706Val Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Phe710Tyr Uncertain significance Single submitter
HADHA p.Phe761Leu Uncertain significance Single submitter
HADHA p.Pro697Ala Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Pro711Ser Uncertain significance Single submitter
mitochondrial trifunctional protein deficiency
HADHA p.Ser65Gly Uncertain significance Single submitter
HADHA p.Thr393Ala Uncertain significance Single submitter
HADHA p.Thr395Asn Uncertain significance Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Thr39Ser Uncertain significance Single submitter
mitochondrial trifunctional protein deficiency
HADHA p.Thr548Ile Uncertain significance Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Tyr546Asn Uncertain significance Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Val243Phe Uncertain significance Single submitter
HADHA p.Val282Asp Uncertain significance Single submitter
mitochondrial trifunctional protein deficiency 1
HADHA p.Val290Ala Uncertain significance Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Val347Ile Uncertain significance Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Val404Ala Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Val458Leu Uncertain significance Single submitter
HADHA p.Val582Ala Uncertain significance Single submitter
mitochondrial trifunctional protein deficiency
HADHA p.Val591Gly Uncertain significance Single submitter
mitochondrial trifunctional protein deficiency
HADHA p.Ala178Ser Uncertain significance No assertion criteria
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Ala248Asp Uncertain significance No assertion criteria
HADHA-related disorder
HADHA p.Ala416Val Uncertain significance No assertion criteria
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Asn758Asp Uncertain significance No assertion criteria
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Asp701Gly Uncertain significance No assertion criteria
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Asp722Glu Uncertain significance No assertion criteria
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Gln743Arg Uncertain significance No assertion criteria
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Gly700Arg Uncertain significance No assertion criteria
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.His598Tyr Uncertain significance No assertion criteria
HADHA-related disorder
HADHA p.Met506Thr Uncertain significance No assertion criteria
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Phe327Ser Uncertain significance No assertion criteria
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Thr112Ile Uncertain significance No assertion criteria
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Thr476Lys Uncertain significance No assertion criteria
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Thr548Ala Uncertain significance No assertion criteria
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Val222Met Uncertain significance No assertion criteria
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Val286Ala Uncertain significance No assertion criteria
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Val678Leu Uncertain significance No assertion criteria
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Predictors split 121

The independent predictors disagree with each other — read with care.

HADHA p.Ala109Thr Uncertain significance Multiple submitters
mitochondrial trifunctional protein deficiency
HADHA p.Ala377Thr Uncertain significance Multiple submitters
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Ala485Ser Uncertain significance Multiple submitters
mitochondrial trifunctional protein deficiency
HADHA p.Ala585Thr Uncertain significance Multiple submitters
mitochondrial trifunctional protein deficiency
HADHA p.Arg187Lys Uncertain significance Multiple submitters
mitochondrial trifunctional protein deficiency
HADHA p.Arg235Trp Pathogenic/Likely pathogenic Multiple submitters
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Arg399Gln Uncertain significance Multiple submitters
mitochondrial trifunctional protein deficiency
HADHA p.Arg732Trp Uncertain significance Multiple submitters
mitochondrial trifunctional protein deficiency
HADHA p.Asn58Ser Uncertain significance Multiple submitters
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Asn615Asp Benign Multiple submitters
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Asp731Val Uncertain significance Multiple submitters
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Glu515Lys Uncertain significance Multiple submitters
Inborn genetic diseases
HADHA p.Glu67Gln Uncertain significance Multiple submitters
mitochondrial trifunctional protein deficiency
HADHA p.Gly226Glu Uncertain significance Multiple submitters
mitochondrial trifunctional protein deficiency
HADHA p.Gly608Ala Uncertain significance Multiple submitters
mitochondrial trifunctional protein deficiency
HADHA p.Gly642Val Uncertain significance Multiple submitters
Inborn genetic diseases
HADHA p.Ile693Val Uncertain significance Multiple submitters
mitochondrial trifunctional protein deficiency
HADHA p.Ile729Thr Uncertain significance Multiple submitters
HADHA-related disorder
HADHA p.Leu35Phe Uncertain significance Multiple submitters
HADHA-related disorder
HADHA p.Lys163Glu Uncertain significance Multiple submitters
HADHA p.Met332Arg Uncertain significance Multiple submitters
Inborn genetic diseases
HADHA p.Met332Thr Uncertain significance Multiple submitters
Inborn genetic diseases
HADHA p.Met687Thr Benign Multiple submitters
mitochondrial trifunctional protein deficiency
HADHA p.Pro299His Uncertain significance Multiple submitters
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Pro568Leu Uncertain significance Multiple submitters
Inborn genetic diseases
HADHA p.Ser556Cys Uncertain significance Multiple submitters
mitochondrial trifunctional protein deficiency
HADHA p.Ser654Asn Uncertain significance Multiple submitters
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Thr513Met Uncertain significance Multiple submitters
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Val412Leu Uncertain significance Multiple submitters
mitochondrial trifunctional protein deficiency
HADHA p.Val643Met Uncertain significance Multiple submitters
Inborn genetic diseases
HADHA p.Val705Ile Uncertain significance Multiple submitters
mitochondrial trifunctional protein deficiency 1
HADHA p.Ala197Ser Conflicting Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Ala209Val Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Ala464Val Uncertain significance Single submitter
HADHA p.Ala552Pro Conflicting Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Ala600Val Uncertain significance Single submitter
HADHA p.Ala738Val Uncertain significance Single submitter
mitochondrial trifunctional protein deficiency
HADHA p.Ala739Ser Uncertain significance Single submitter
mitochondrial trifunctional protein deficiency
HADHA p.Ala81Val Uncertain significance Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Arg208Cys Uncertain significance Single submitter
HADHA p.Arg208His Uncertain significance Single submitter
mitochondrial trifunctional protein deficiency
HADHA p.Arg27Cys Conflicting Single submitter
Inborn genetic diseases
HADHA p.Arg27His Uncertain significance Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Arg27Leu Conflicting Single submitter
mitochondrial trifunctional protein deficiency
HADHA p.Arg457Gly Uncertain significance Single submitter
HADHA p.Arg53Gln Uncertain significance Single submitter
HADHA p.Arg560Gly Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Arg719Cys Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Arg719His Likely benign Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Asn77Ser Uncertain significance Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Asp567Tyr Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Asp670Gly Uncertain significance Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Cys470Gly Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Gln114Arg Uncertain significance Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Gln378Glu Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Gln507Glu Uncertain significance Single submitter
HADHA p.Gln84His Uncertain significance Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Glu238Ala Uncertain significance Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Glu329Gln Uncertain significance Single submitter
HADHA p.Glu515Gln Uncertain significance Single submitter
HADHA p.Glu601Lys Uncertain significance Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Glu617Lys Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Glu641Asp Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Gly184Ser Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Gly311Ala Uncertain significance Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Gly319Ser Conflicting Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Gly400Ala Uncertain significance Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Gly633Arg Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Gly642Ser Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Ile137Thr Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Ile256Asn Uncertain significance Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Ile305Thr Conflicting Single submitter
mitochondrial trifunctional protein deficiency
HADHA p.Ile495Thr Uncertain significance Single submitter
HADHA p.Leu10Pro Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Leu19Arg Uncertain significance Single submitter
HADHA p.Leu264Trp Uncertain significance Single submitter
mitochondrial trifunctional protein deficiency
HADHA p.Leu452Arg Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Leu656Ser Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Lys166Glu Uncertain significance Single submitter
mitochondrial trifunctional protein deficiency
HADHA p.Lys255Arg Conflicting Single submitter
mitochondrial trifunctional protein deficiency
HADHA p.Lys262Thr Uncertain significance Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Lys303Glu Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Lys350Arg Uncertain significance Single submitter
mitochondrial trifunctional protein deficiency
HADHA p.Lys406Arg Uncertain significance Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Lys489Arg Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Lys489Glu Conflicting Single submitter
mitochondrial trifunctional protein deficiency 1
HADHA p.Lys540Glu Uncertain significance Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Lys570Asn Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Lys597Glu Uncertain significance Single submitter
mitochondrial trifunctional protein deficiency
HADHA p.Lys634Glu Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Lys644Arg Uncertain significance Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Lys664Glu Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Met332Val Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Met554Val Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Met555Ile Uncertain significance Single submitter
HADHA p.Pro301Thr Uncertain significance Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Ser144Phe Uncertain significance Single submitter
mitochondrial trifunctional protein deficiency
HADHA p.Ser14Phe Conflicting Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Ser577Cys Uncertain significance Single submitter
mitochondrial trifunctional protein deficiency
HADHA p.Ser665Phe Uncertain significance Single submitter
mitochondrial trifunctional protein deficiency
HADHA p.Ser669Ala Uncertain significance Single submitter
mitochondrial trifunctional protein deficiency
HADHA p.Ser756Arg Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Thr171Ile Uncertain significance Single submitter
mitochondrial trifunctional protein deficiency
HADHA p.Thr696Ile Uncertain significance Single submitter
mitochondrial trifunctional protein deficiency
HADHA p.Tyr724Cys Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Val194Met Uncertain significance Single submitter
HADHA p.Val381Met Conflicting Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Val45Gly Uncertain significance Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Val465Leu Uncertain significance Single submitter
mitochondrial trifunctional protein deficiency
HADHA p.Val593Met Uncertain significance Single submitter
Inborn genetic diseases
HADHA p.Val623Met Uncertain significance Single submitter
mitochondrial trifunctional protein deficiency
HADHA p.Val667Gly Uncertain significance Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Val89Ile Uncertain significance Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Ala726Val Uncertain significance No assertion criteria
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Asp442Asn Uncertain significance No assertion criteria
HADHA-related disorder
HADHA p.Glu242Lys Uncertain significance No assertion criteria
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Leu297Phe Uncertain significance No assertion criteria
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Lys254Glu Uncertain significance No assertion criteria
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Lys267Glu Uncertain significance No assertion criteria
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Lys759Thr Uncertain significance No assertion criteria
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA p.Pro299Ser Uncertain significance No assertion criteria
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

All HADHA variants

Pathogenic 77

c.1689+2T>G Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.2146+1G>A Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.315-1G>A Multiple submitters mitochondrial trifunctional protein deficiency
c.315-2A>T Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Arg291Ter Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Arg399Ter Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Arg560Ter Multiple submitters mitochondrial trifunctional protein deficiency
p.Gln157Ter Multiple submitters mitochondrial trifunctional protein deficiency
p.Gly384_Leu385insTer Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Ile655_Leu656insTer Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Ile9fs Multiple submitters mitochondrial trifunctional protein deficiency
p.Ser92fs Multiple submitters HADHA-related disorder
c.1620+1del Single submitter mitochondrial trifunctional protein deficiency
c.1690-17_1690-2del Single submitter mitochondrial trifunctional protein deficiency
c.2000+1G>C Single submitter mitochondrial trifunctional protein deficiency
c.315-4_317delinsTGCAGCAAGG Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.676+1G>A Single submitter mitochondrial trifunctional protein deficiency
c.800-1G>T Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.918+2T>A Single submitter
p.Ala416_Leu417insTer Single submitter mitochondrial trifunctional protein deficiency
p.Ala441fs Single submitter mitochondrial trifunctional protein deficiency
p.Ala552fs Single submitter mitochondrial trifunctional protein deficiency
p.Arg205Ter Single submitter mitochondrial trifunctional protein deficiency
p.Arg53fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Arg630fs Single submitter mitochondrial trifunctional protein deficiency
p.Asp520fs Single submitter mitochondrial trifunctional protein deficiency
p.Asp670fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Gln118fs Single submitter mitochondrial trifunctional protein deficiency
p.Gln281Ter Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Gln378Ter Single submitter mitochondrial trifunctional protein deficiency
p.Gln402Ter Single submitter mitochondrial trifunctional protein deficiency
p.Gln640Ter Single submitter
p.Gln674Ter Single submitter mitochondrial trifunctional protein deficiency
p.Glu335fs Single submitter mitochondrial trifunctional protein deficiency
p.Glu421Ter Single submitter mitochondrial trifunctional protein deficiency
p.Glu446Ter Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Glu510Ter Single submitter mitochondrial trifunctional protein deficiency
p.Glu671fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Glu699fs Single submitter mitochondrial trifunctional protein deficiency
p.Gly311fs Single submitter mitochondrial trifunctional protein deficiency
p.Gly315fs Single submitter mitochondrial trifunctional protein deficiency
p.Gly715fs Single submitter mitochondrial trifunctional protein deficiency
p.Ile104fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Ile160_Ala161delinsLysTer Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Ile512fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Ile559Ter Single submitter
p.Leu508fs Single submitter mitochondrial trifunctional protein deficiency
p.Leu530fs Single submitter mitochondrial trifunctional protein deficiency
p.Lys129fs Single submitter mitochondrial trifunctional protein deficiency
p.Lys213fs Single submitter mitochondrial trifunctional protein deficiency
p.Lys230fs Single submitter mitochondrial trifunctional protein deficiency
p.Lys411fs Single submitter mitochondrial trifunctional protein deficiency
p.Lys455delinsAsnTer Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Lys531fs Single submitter mitochondrial trifunctional protein deficiency
p.Lys734Ter Single submitter mitochondrial trifunctional protein deficiency
p.Phe681fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Phe744fs Single submitter mitochondrial trifunctional protein deficiency
p.Phe98fs Single submitter mitochondrial trifunctional protein deficiency
p.Pro357fs Single submitter mitochondrial trifunctional protein deficiency
p.Ser665Ter Single submitter mitochondrial trifunctional protein deficiency
p.Ser93Ter Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Thr236fs Single submitter mitochondrial trifunctional protein deficiency
p.Thr395fs Single submitter mitochondrial trifunctional protein deficiency
p.Thr476fs Single submitter
p.Thr514fs Single submitter mitochondrial trifunctional protein deficiency
p.Trp80fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Trp80Ter Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Tyr24fs Single submitter mitochondrial trifunctional protein deficiency
p.Tyr298fs Single submitter mitochondrial trifunctional protein deficiency
p.Tyr499fs Single submitter mitochondrial trifunctional protein deficiency
p.Tyr639fs Single submitter mitochondrial trifunctional protein deficiency
p.Tyr724fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Tyr736Ter Single submitter mitochondrial trifunctional protein deficiency
p.Tyr740Ter Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Val282fs Single submitter mitochondrial trifunctional protein deficiency
p.Val404fs Single submitter mitochondrial trifunctional protein deficiency
p.Leu342Pro No assertion criteria mitochondrial trifunctional protein deficiency

Pathogenic/Likely pathogenic 44

c.1086-3_1092del Multiple submitters mitochondrial trifunctional protein deficiency
c.1091_1128del Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1620+2_1620+6del Multiple submitters mitochondrial trifunctional protein deficiency 1
c.1689+2T>C Multiple submitters mitochondrial trifunctional protein deficiency
c.1690-2A>G Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.180_180+5delinsAT Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.180+1G>A Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.180+3A>G Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.2000+1G>A Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.574-2A>G Multiple submitters mitochondrial trifunctional protein deficiency
c.676+2T>C Multiple submitters mitochondrial trifunctional protein deficiency
c.68del Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.919-2A>G Multiple submitters mitochondrial trifunctional protein deficiency 1
p.Ala478fs Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Arg235Trp Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Arg53Ter Multiple submitters mitochondrial trifunctional protein deficiency
p.Arg549fs Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Arg676Cys Multiple submitters mitochondrial trifunctional protein deficiency
p.Arg676His Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Cys322_Glu323delinsTer Multiple submitters mitochondrial trifunctional protein deficiency
p.Gln114Ter Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Gln186Ter Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Gln674fs Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Glu510Gln Multiple submitters HADHA-related disorder
p.Glu641fs Multiple submitters mitochondrial trifunctional protein deficiency 1
p.Gly23_Tyr24insTer Multiple submitters mitochondrial trifunctional protein deficiency
p.Gly44fs Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Gly604fs Multiple submitters mitochondrial trifunctional protein deficiency
p.His598fs Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Ile305Asn Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Ile54fs Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Leu574fs Multiple submitters mitochondrial trifunctional protein deficiency
p.Leu587fs Multiple submitters mitochondrial trifunctional protein deficiency
p.Leu661fs Multiple submitters mitochondrial trifunctional protein deficiency 1
p.Lys353fs Multiple submitters mitochondrial trifunctional protein deficiency
p.Lys390Ter Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Lys413Ter Multiple submitters mitochondrial trifunctional protein deficiency
p.Lys605fs Multiple submitters mitochondrial trifunctional protein deficiency
p.Lys631fs Multiple submitters mitochondrial trifunctional protein deficiency
p.Pro712fs Multiple submitters mitochondrial trifunctional protein deficiency
p.Thr294fs Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Thr517fs Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Tyr343Ter Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Tyr639Ter Multiple submitters mitochondrial trifunctional protein deficiency

Likely pathogenic 112

c.1480-1G>C Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.314+1G>C Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.314+2T>G Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.677-2A>G Multiple submitters mitochondrial trifunctional protein deficiency
c.799+1G>A Multiple submitters mitochondrial trifunctional protein deficiency
c.919-1G>A Multiple submitters mitochondrial trifunctional protein deficiency 1
p.His498Arg Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Leu571Pro Multiple submitters mitochondrial trifunctional protein deficiency 1
c.1086-1_1088dup Single submitter mitochondrial trifunctional protein deficiency 1
c.1086-2_1089delinsTATTCTTTTCATCCTTGC Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1086-2A>T Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1220+1G>T Single submitter mitochondrial trifunctional protein deficiency
c.1221-1G>C Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1221-2A>G Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1479+1G>T Single submitter mitochondrial trifunctional protein deficiency
c.1621-2A>G Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1689+1G>T Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1690-1G>A Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.181-1G>A Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1885+2T>A Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1885+2T>G Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.314+2T>C Single submitter mitochondrial trifunctional protein deficiency
c.315-1G>T Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.453+1G>A Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.573+1G>A Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.573+2T>C Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.67+1G>A Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.976-1G>T Single submitter mitochondrial trifunctional protein deficiency
c.976-2A>G Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Ala178fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Ala272Asp Single submitter mitochondrial trifunctional protein deficiency
p.Ala552fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Arg549Gly Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Arg732fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Asn615fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Asn649fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Asp261fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Asp391fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Asp451fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Gln124Ter Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Gln220Ter Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Gln346Ter Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Gln507fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Glu151Ter Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Glu223Ter Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Glu241fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Glu287Ter Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Glu288Ter Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Glu510Gly Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Gly101Val Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Gly147Ter Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Gly149Val Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Gly629Ser Single submitter
p.His344fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Ile673fs Single submitter
p.Ile693fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Leu10fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Leu367fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Leu689_Leu694delinsGlyLeuTer Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Leu694fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Leu733Pro Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Lys135Glu Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Lys163fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Lys214Ter Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Lys254fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Lys292Ter Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Lys390Ter Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Lys505Ter Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Lys534Ter Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Lys597fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Lys631Ter Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Lys646fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Lys728fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Met106fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Met687fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Phe500fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Phe545fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Pro136Arg Single submitter
p.Pro180Leu Single submitter mitochondrial trifunctional protein deficiency
p.Pro189fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Pro57fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Pro697fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Pro711fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Pro711Leu Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Pro95fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Ser120Ter Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Ser14fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Ser65fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Thr418fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Thr745fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Tyr158Ter Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Tyr239Ter Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Tyr271fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Tyr320fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Tyr320Ter Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Val412fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.110-1G>A No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.2146+2T>C No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.677-1G>A No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.800-1_801del No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Arg22Ter No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Arg676fs No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Gln401fs No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Gln743fs No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Glu691Ter No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Gly741fs No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Lys351fs No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Met1Ile No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Met1Val No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Pro172fs No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Ser654Ter No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Val448_Phe449insTer No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Conflicting classifications of pathogenicity 39

c.1689+11C>T Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1690-13G>A Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.2147-8C>G Single submitter mitochondrial trifunctional protein deficiency
c.918+5G>A Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Ala197Ser Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Ala270Val Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Ala392Thr Single submitter Inborn genetic diseases ⚠
p.Ala473Asp Single submitter mitochondrial trifunctional protein deficiency 1 ⚠
p.Ala552Pro Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Ala596= Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Ala6Thr Single submitter Inborn genetic diseases ⚠
p.Ala739Pro Single submitter Inborn genetic diseases ⚠
p.Arg27Cys Single submitter Inborn genetic diseases ⚠
p.Arg27Leu Single submitter mitochondrial trifunctional protein deficiency ⚠
p.Arg291Gln Single submitter Inborn genetic diseases ⚠
p.Arg610Gly Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Arg676Leu Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Asn142Ser Single submitter mitochondrial trifunctional protein deficiency ⚠
p.Asn428= Single submitter mitochondrial trifunctional protein deficiency
p.Asn649Lys Single submitter mitochondrial trifunctional protein deficiency ⚠
p.Asp360Glu Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Gly319Ser Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Gly703Arg Single submitter mitochondrial trifunctional protein deficiency 1 ⚠
p.Gly725= Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.His598= Single submitter mitochondrial trifunctional protein deficiency
p.Ile305Thr Single submitter mitochondrial trifunctional protein deficiency ⚠
p.Ile559Val Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Ile9= Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Lys255Arg Single submitter mitochondrial trifunctional protein deficiency ⚠
p.Lys489Glu Single submitter mitochondrial trifunctional protein deficiency 1 ⚠
p.Pro195= Single submitter mitochondrial trifunctional protein deficiency
p.Ser14Phe Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Ser73Pro Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Thr679= Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Val218Leu Single submitter mitochondrial trifunctional protein deficiency ⚠
p.Val286= Single submitter mitochondrial trifunctional protein deficiency
p.Val381Met Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Val404= Single submitter mitochondrial trifunctional protein deficiency
p.Val705Asp Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠

Benign 51

c.109+20A>G Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1392+10G>A Multiple submitters mitochondrial trifunctional protein deficiency
c.1393-139T>G Multiple submitters
c.1393-163C>G Multiple submitters
c.1393-62A>C Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1620+132C>T Multiple submitters
c.1621-26G>T Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1690-12C>T Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1690-221C>T Multiple submitters
c.1690-259C>A Multiple submitters
c.180+69G>C Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.181-102C>T Multiple submitters
c.1885+145T>C Multiple submitters
c.1886-134C>T Multiple submitters
c.1886-136T>C Multiple submitters
c.2000+71T>G Multiple submitters
c.2000+86T>G Multiple submitters
c.315-44A>C Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.573+26G>C Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.573+32T>C Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.573+8dup Multiple submitters mitochondrial trifunctional protein deficiency
c.67+51G>T Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.68-82T>A Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.*202G>A Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.*302G>A Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.*510A>T Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Asn615Asp Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Met687Thr Multiple submitters mitochondrial trifunctional protein deficiency ⚠
p.Tyr158= Multiple submitters mitochondrial trifunctional protein deficiency
c.1221-195C>T Single submitter
c.1393-10dup Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1393-194G>A Single submitter
c.1620+8dup Single submitter mitochondrial trifunctional protein deficiency
c.181-216G>A Single submitter
c.1885+265_1885+266dup Single submitter
c.1885+265_1885+267dup Single submitter
c.1885+289C>A Single submitter
c.2000+290G>A Single submitter
c.2000+332T>G Single submitter
c.2000+76dup Single submitter
c.2000+90del Single submitter
c.2001-35TCT[2] Single submitter
c.315-284C>T Single submitter
c.573+171dup Single submitter
c.573+190_573+191del Single submitter
c.573+191del Single submitter
c.573+321G>A Single submitter
c.574-333A>G Single submitter
c.677-232A>G Single submitter
c.*331T>C Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.*561C>T Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Benign/Likely benign 11

c.1620+11G>C Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1690-14C>T Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1690-6G>A Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.2146+16T>C Multiple submitters mitochondrial trifunctional protein deficiency
c.2146+18G>A Multiple submitters mitochondrial trifunctional protein deficiency
c.67+17G>C Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.68-10T>G Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.-1G>T Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.-25C>G Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Gln358Lys Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Pro189= Multiple submitters mitochondrial trifunctional protein deficiency

Likely benign 523

Showing the top 300 by review status; the full set is in the sitemap.

c.1086-12C>T Multiple submitters mitochondrial trifunctional protein deficiency
c.1393-24T>C Multiple submitters
c.1620+20_1620+21del Multiple submitters mitochondrial trifunctional protein deficiency
c.1620+9C>G Multiple submitters mitochondrial trifunctional protein deficiency
c.1621-19A>G Multiple submitters mitochondrial trifunctional protein deficiency
c.1886-16T>C Multiple submitters mitochondrial trifunctional protein deficiency
c.1886-8T>C Multiple submitters mitochondrial trifunctional protein deficiency
c.2001-138G>A Multiple submitters
c.2146+10G>A Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.2147-19G>C Multiple submitters mitochondrial trifunctional protein deficiency
c.315-12T>C Multiple submitters mitochondrial trifunctional protein deficiency
c.800-15C>T Multiple submitters mitochondrial trifunctional protein deficiency
c.918+19T>C Multiple submitters mitochondrial trifunctional protein deficiency
c.918+57C>G Multiple submitters
p.Ala270= Multiple submitters mitochondrial trifunctional protein deficiency
p.Ala416= Multiple submitters mitochondrial trifunctional protein deficiency
p.Ala441= Multiple submitters mitochondrial trifunctional protein deficiency
p.Ala600= Multiple submitters mitochondrial trifunctional protein deficiency
p.Ala704= Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Arg53= Multiple submitters mitochondrial trifunctional protein deficiency
p.Asp670= Multiple submitters mitochondrial trifunctional protein deficiency
p.Cys4= Multiple submitters mitochondrial trifunctional protein deficiency
p.His753= Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Leu169= Multiple submitters mitochondrial trifunctional protein deficiency
p.Leu385= Multiple submitters mitochondrial trifunctional protein deficiency
p.Phe611= Multiple submitters mitochondrial trifunctional protein deficiency
p.Pro276= Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Pro543= Multiple submitters mitochondrial trifunctional protein deficiency
p.Pro711= Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Val290= Multiple submitters mitochondrial trifunctional protein deficiency
c.1085+10del Single submitter mitochondrial trifunctional protein deficiency
c.1085+12T>G Single submitter mitochondrial trifunctional protein deficiency
c.1085+13C>T Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1085+14T>C Single submitter mitochondrial trifunctional protein deficiency
c.1085+15A>G Single submitter mitochondrial trifunctional protein deficiency
c.1085+16C>T Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1085+17G>A Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1085+17G>C Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1085+19A>G Single submitter mitochondrial trifunctional protein deficiency
c.1085+282C>T Single submitter
c.1086-12C>G Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1086-20A>T Single submitter mitochondrial trifunctional protein deficiency
c.1086-8C>T Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1086-9G>T Single submitter mitochondrial trifunctional protein deficiency
c.110-10T>C Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.110-11T>C Single submitter mitochondrial trifunctional protein deficiency
c.110-12T>A Single submitter mitochondrial trifunctional protein deficiency
c.110-12T>C Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.110-13_110-10del Single submitter mitochondrial trifunctional protein deficiency
c.110-13C>A Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.110-14T>A Single submitter mitochondrial trifunctional protein deficiency
c.110-14T>C Single submitter mitochondrial trifunctional protein deficiency
c.110-15T>G Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.110-17C>T Single submitter mitochondrial trifunctional protein deficiency
c.110-7T>C Single submitter mitochondrial trifunctional protein deficiency
c.1220+10C>A Single submitter mitochondrial trifunctional protein deficiency
c.1220+10CT[3] Single submitter mitochondrial trifunctional protein deficiency
c.1220+12C>G Single submitter mitochondrial trifunctional protein deficiency
c.1220+12C>T Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1220+16C>G Single submitter mitochondrial trifunctional protein deficiency
c.1220+16C>T Single submitter mitochondrial trifunctional protein deficiency
c.1220+17T>C Single submitter mitochondrial trifunctional protein deficiency
c.1220+206G>A Single submitter
c.1220+329G>A Single submitter
c.1220+9G>A Single submitter mitochondrial trifunctional protein deficiency
c.1220+9G>C Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1221-11G>T Single submitter mitochondrial trifunctional protein deficiency
c.1392+11G>A Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1392+14T>C Single submitter mitochondrial trifunctional protein deficiency
c.1392+14T>G Single submitter mitochondrial trifunctional protein deficiency
c.1392+15G>A Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1392+18G>A Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1392+18G>T Single submitter mitochondrial trifunctional protein deficiency
c.1392+19T>C Single submitter mitochondrial trifunctional protein deficiency
c.1392+51_1392+52del Single submitter
c.1392+7A>G Single submitter mitochondrial trifunctional protein deficiency
c.1393-13T>C Single submitter mitochondrial trifunctional protein deficiency
c.1393-16T>C Single submitter mitochondrial trifunctional protein deficiency
c.1393-17dup Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1393-20del Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1393-20T>A Single submitter mitochondrial trifunctional protein deficiency
c.1479+10G>C Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1479+12A>G Single submitter mitochondrial trifunctional protein deficiency
c.1479+14A>G Single submitter mitochondrial trifunctional protein deficiency
c.1479+14A>T Single submitter mitochondrial trifunctional protein deficiency
c.1479+17G>A Single submitter mitochondrial trifunctional protein deficiency
c.1479+7T>A Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1479+8C>A Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1479+8C>T Single submitter mitochondrial trifunctional protein deficiency
c.1479+9_1479+25del Single submitter mitochondrial trifunctional protein deficiency
c.1479+9G>A Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1480-10C>T Single submitter mitochondrial trifunctional protein deficiency
c.1480-12T>C Single submitter mitochondrial trifunctional protein deficiency
c.1480-14G>T Single submitter mitochondrial trifunctional protein deficiency
c.1480-15G>T Single submitter mitochondrial trifunctional protein deficiency
c.1480-20C>T Single submitter mitochondrial trifunctional protein deficiency
c.1480-4C>T Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1480-8C>T Single submitter mitochondrial trifunctional protein deficiency
c.1620+11G>A Single submitter mitochondrial trifunctional protein deficiency
c.1620+13A>G Single submitter mitochondrial trifunctional protein deficiency
c.1620+19G>A Single submitter mitochondrial trifunctional protein deficiency
c.1620+19G>C Single submitter mitochondrial trifunctional protein deficiency
c.1620+7G>A Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1620+8G>T Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1620+9C>T Single submitter mitochondrial trifunctional protein deficiency
c.1621-18T>C Single submitter mitochondrial trifunctional protein deficiency
c.1621-20C>T Single submitter mitochondrial trifunctional protein deficiency
c.1621-7T>C Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1621-8del Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1689+16C>T Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1689+18G>C Single submitter mitochondrial trifunctional protein deficiency
c.1689+19_1689+20del Single submitter mitochondrial trifunctional protein deficiency
c.1689+8T>C Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1690-16A>C Single submitter mitochondrial trifunctional protein deficiency
c.1690-16A>G Single submitter mitochondrial trifunctional protein deficiency
c.1690-17C>A Single submitter mitochondrial trifunctional protein deficiency
c.1690-17C>T Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1690-18G>A Single submitter
c.1690-19T>C Single submitter mitochondrial trifunctional protein deficiency
c.1690-20C>G Single submitter mitochondrial trifunctional protein deficiency
c.180+14T>A Single submitter mitochondrial trifunctional protein deficiency
c.180+19A>G Single submitter mitochondrial trifunctional protein deficiency
c.180+20G>A Single submitter mitochondrial trifunctional protein deficiency
c.180+7C>G Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.181-15A>G Single submitter mitochondrial trifunctional protein deficiency
c.181-17A>G Single submitter mitochondrial trifunctional protein deficiency
c.181-235T>C Single submitter
c.181-8T>A Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1885+12C>G Single submitter mitochondrial trifunctional protein deficiency
c.1885+14A>G Single submitter mitochondrial trifunctional protein deficiency
c.1885+19A>G Single submitter mitochondrial trifunctional protein deficiency
c.1885+265dup Single submitter
c.1886-13T>G Single submitter mitochondrial trifunctional protein deficiency
c.1886-14C>T Single submitter mitochondrial trifunctional protein deficiency
c.1886-44_1886-18del Single submitter mitochondrial trifunctional protein deficiency
c.1886-44_1886-18dup Single submitter mitochondrial trifunctional protein deficiency
c.1886-7G>A Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.2000+148T>C Single submitter
c.2000+181T>C Single submitter
c.2000+8C>T Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.2000+9G>A Single submitter mitochondrial trifunctional protein deficiency
c.2000+9G>T Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.2001-10C>G Single submitter mitochondrial trifunctional protein deficiency
c.2001-10C>T Single submitter mitochondrial trifunctional protein deficiency
c.2001-13T>C Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.2001-14C>T Single submitter mitochondrial trifunctional protein deficiency
c.2001-16C>G Single submitter mitochondrial trifunctional protein deficiency
c.2001-18_2001-16dup Single submitter mitochondrial trifunctional protein deficiency
c.2001-18A>G Single submitter mitochondrial trifunctional protein deficiency
c.2001-4G>A Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.2146+12A>G Single submitter mitochondrial trifunctional protein deficiency
c.2146+15T>C Single submitter mitochondrial trifunctional protein deficiency
c.2146+17G>A Single submitter mitochondrial trifunctional protein deficiency
c.2146+19G>A Single submitter mitochondrial trifunctional protein deficiency
c.2146+20A>C Single submitter mitochondrial trifunctional protein deficiency
c.2146+9C>A Single submitter mitochondrial trifunctional protein deficiency
c.2146+9C>G Single submitter mitochondrial trifunctional protein deficiency
c.2146+9C>T Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.2147-10C>A Single submitter mitochondrial trifunctional protein deficiency
c.2147-10C>T Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.2147-12_2147-11del Single submitter mitochondrial trifunctional protein deficiency
c.2147-17C>T Single submitter
c.2147-5T>C Single submitter mitochondrial trifunctional protein deficiency
c.2147-7_2147-6insGA Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.2147-8C>T Single submitter mitochondrial trifunctional protein deficiency
c.314+11G>A Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.314+12G>T Single submitter mitochondrial trifunctional protein deficiency
c.314+135G>A Single submitter
c.314+14A>C Single submitter mitochondrial trifunctional protein deficiency
c.314+15A>G Single submitter mitochondrial trifunctional protein deficiency
c.314+17T>C Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.314+18dup Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.314+19G>A Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.314+327G>A Single submitter
c.314+8T>A Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.315-10G>C Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.315-16T>A Single submitter mitochondrial trifunctional protein deficiency
c.453+10T>C Single submitter mitochondrial trifunctional protein deficiency
c.453+12C>G Single submitter mitochondrial trifunctional protein deficiency
c.453+138G>C Single submitter
c.453+13T>C Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.453+14A>G Single submitter mitochondrial trifunctional protein deficiency
c.453+14A>T Single submitter mitochondrial trifunctional protein deficiency
c.453+20_453+22del Single submitter mitochondrial trifunctional protein deficiency
c.453+8T>C Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.453+9A>G Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.454-12_454-11del Single submitter mitochondrial trifunctional protein deficiency
c.454-12A>C Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.454-12A>G Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.454-13C>A Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.454-17C>G Single submitter mitochondrial trifunctional protein deficiency
c.454-25_454-19dup Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.454-5C>T Single submitter mitochondrial trifunctional protein deficiency
c.454-8G>T Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.573+15C>T Single submitter mitochondrial trifunctional protein deficiency
c.573+16C>T Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.573+272C>T Single submitter
c.573+7C>G Single submitter mitochondrial trifunctional protein deficiency
c.573+8T>C Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.573+9A>G Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.574-13G>A Single submitter mitochondrial trifunctional protein deficiency
c.574-13G>T Single submitter mitochondrial trifunctional protein deficiency
c.574-17C>T Single submitter mitochondrial trifunctional protein deficiency
c.574-284A>G Single submitter
c.574-4dup Single submitter mitochondrial trifunctional protein deficiency
c.574-4T>G Single submitter mitochondrial trifunctional protein deficiency
c.574-5G>A Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.574-6T>C Single submitter mitochondrial trifunctional protein deficiency
c.574-7C>T Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.574-9G>T Single submitter mitochondrial trifunctional protein deficiency
c.67+13C>G Single submitter mitochondrial trifunctional protein deficiency
c.67+14G>A Single submitter mitochondrial trifunctional protein deficiency
c.67+16G>C Single submitter mitochondrial trifunctional protein deficiency
c.67+18G>A Single submitter mitochondrial trifunctional protein deficiency
c.67+18G>T Single submitter mitochondrial trifunctional protein deficiency
c.67+7C>A Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.67+9T>C Single submitter mitochondrial trifunctional protein deficiency
c.676+10A>G Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.677-16G>T Single submitter mitochondrial trifunctional protein deficiency
c.677-17T>A Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.677-20T>C Single submitter mitochondrial trifunctional protein deficiency
c.677-6T>C Single submitter mitochondrial trifunctional protein deficiency
c.677-9T>C Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.68-12C>G Single submitter mitochondrial trifunctional protein deficiency
c.68-12C>T Single submitter mitochondrial trifunctional protein deficiency
c.68-13T>C Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.68-14G>A Single submitter mitochondrial trifunctional protein deficiency
c.68-16A>C Single submitter mitochondrial trifunctional protein deficiency
c.68-18A>T Single submitter mitochondrial trifunctional protein deficiency
c.68-4A>G Single submitter mitochondrial trifunctional protein deficiency
c.68-7C>T Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.799+10A>C Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.799+13G>A Single submitter mitochondrial trifunctional protein deficiency
c.799+153T>C Single submitter
c.799+18dup Single submitter mitochondrial trifunctional protein deficiency
c.799+7A>G Single submitter mitochondrial trifunctional protein deficiency
c.799+8T>A Single submitter mitochondrial trifunctional protein deficiency
c.800-16del Single submitter mitochondrial trifunctional protein deficiency
c.800-20A>G Single submitter mitochondrial trifunctional protein deficiency
c.800-9A>G Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.918+15A>G Single submitter mitochondrial trifunctional protein deficiency
c.918+16T>G Single submitter mitochondrial trifunctional protein deficiency
c.918+20C>T Single submitter mitochondrial trifunctional protein deficiency
c.918+82A>G Single submitter
c.918+9T>G Single submitter mitochondrial trifunctional protein deficiency
c.919-10T>C Single submitter mitochondrial trifunctional protein deficiency
c.919-11A>G Single submitter mitochondrial trifunctional protein deficiency
c.919-15T>G Single submitter mitochondrial trifunctional protein deficiency
c.919-165G>C Single submitter
c.919-7T>G Single submitter mitochondrial trifunctional protein deficiency
c.975+10T>C Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.975+12del Single submitter mitochondrial trifunctional protein deficiency
c.975+13C>T Single submitter mitochondrial trifunctional protein deficiency
c.975+16T>G Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.975+17dup Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.975+20A>G Single submitter mitochondrial trifunctional protein deficiency
c.976-10T>A Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.976-12T>C Single submitter mitochondrial trifunctional protein deficiency
c.976-16C>T Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.976-18T>C Single submitter mitochondrial trifunctional protein deficiency
c.976-19A>C Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.976-20C>T Single submitter mitochondrial trifunctional protein deficiency
c.976-7T>G Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.-13T>C Single submitter
c.-20G>T Single submitter
c.-43A>G Single submitter
p.Ala100= Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Ala102= Single submitter mitochondrial trifunctional protein deficiency
p.Ala108= Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Ala109= Single submitter mitochondrial trifunctional protein deficiency
p.Ala123= Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Ala15= Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Ala182= Single submitter mitochondrial trifunctional protein deficiency
p.Ala209= Single submitter mitochondrial trifunctional protein deficiency
p.Ala248= Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Ala272= Single submitter mitochondrial trifunctional protein deficiency
p.Ala3= Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Ala318= Single submitter mitochondrial trifunctional protein deficiency
p.Ala338= Single submitter mitochondrial trifunctional protein deficiency
p.Ala377= Single submitter mitochondrial trifunctional protein deficiency
p.Ala396= Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Ala473= Single submitter mitochondrial trifunctional protein deficiency
p.Ala478= Single submitter mitochondrial trifunctional protein deficiency
p.Ala527= Single submitter mitochondrial trifunctional protein deficiency
p.Ala552= Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Ala584= Single submitter mitochondrial trifunctional protein deficiency
p.Ala585= Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Ala6= Single submitter mitochondrial trifunctional protein deficiency
p.Ala657= Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Ala695= Single submitter mitochondrial trifunctional protein deficiency
p.Ala698= Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Ala6Val Single submitter mitochondrial trifunctional protein deficiency
p.Ala726= Single submitter mitochondrial trifunctional protein deficiency
p.Ala754= Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Ala81= Single submitter mitochondrial trifunctional protein deficiency
p.Ala88= Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Arg12= Single submitter mitochondrial trifunctional protein deficiency
p.Arg17= Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Arg208= Single submitter mitochondrial trifunctional protein deficiency
p.Arg211= Single submitter mitochondrial trifunctional protein deficiency

Uncertain significance 281

c.67+3G>A Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.975+6C>T Multiple submitters mitochondrial trifunctional protein deficiency
p.Ala108Asp Multiple submitters Inborn genetic diseases ⚠
p.Ala109Thr Multiple submitters mitochondrial trifunctional protein deficiency ⚠
p.Ala248Val Multiple submitters mitochondrial trifunctional protein deficiency ⚠
p.Ala377Thr Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Ala485Ser Multiple submitters mitochondrial trifunctional protein deficiency ⚠
p.Ala585Thr Multiple submitters mitochondrial trifunctional protein deficiency ⚠
p.Ala657Ser Multiple submitters mitochondrial trifunctional protein deficiency ⚠
p.Ala6Pro Multiple submitters mitochondrial trifunctional protein deficiency ⚠
p.Arg187Lys Multiple submitters mitochondrial trifunctional protein deficiency ⚠
p.Arg187Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg235Gln Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Arg399Gln Multiple submitters mitochondrial trifunctional protein deficiency ⚠
p.Arg5Trp Multiple submitters mitochondrial trifunctional protein deficiency ⚠
p.Arg610Gln Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Arg630His Multiple submitters Inborn genetic diseases ⚠
p.Arg732Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg732Trp Multiple submitters mitochondrial trifunctional protein deficiency ⚠
p.Asn58Ser Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Asp653Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp731Glu Multiple submitters mitochondrial trifunctional protein deficiency ⚠
p.Asp731Val Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Gln532His Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Glu151= Multiple submitters mitochondrial trifunctional protein deficiency 1
p.Glu335Lys Multiple submitters mitochondrial trifunctional protein deficiency ⚠
p.Glu515Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu67Gln Multiple submitters mitochondrial trifunctional protein deficiency ⚠
p.Gly147Arg Multiple submitters HADHA-related disorder ⚠
p.Gly226Glu Multiple submitters mitochondrial trifunctional protein deficiency ⚠
p.Gly328Arg Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Gly608Ala Multiple submitters mitochondrial trifunctional protein deficiency ⚠
p.Gly642Val Multiple submitters Inborn genetic diseases ⚠
p.Ile25Val Multiple submitters Inborn genetic diseases ⚠
p.Ile304Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile388Leu Multiple submitters mitochondrial trifunctional protein deficiency ⚠
p.Ile638Val Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Ile693Val Multiple submitters mitochondrial trifunctional protein deficiency ⚠
p.Ile729Thr Multiple submitters HADHA-related disorder ⚠
p.Leu35Phe Multiple submitters HADHA-related disorder ⚠
p.Lys163Asn Multiple submitters Inborn genetic diseases ⚠
p.Lys163Glu Multiple submitters ⚠
p.Lys351del Multiple submitters mitochondrial trifunctional protein deficiency 1
p.Met106Val Multiple submitters mitochondrial trifunctional protein deficiency ⚠
p.Met332Arg Multiple submitters Inborn genetic diseases ⚠
p.Met332Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro299His Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Pro568Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro711Thr Multiple submitters Inborn genetic diseases ⚠
p.Ser556Cys Multiple submitters mitochondrial trifunctional protein deficiency ⚠
p.Ser654Asn Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Thr513Met Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Tyr546Cys Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Val412Leu Multiple submitters mitochondrial trifunctional protein deficiency ⚠
p.Val503Gly Multiple submitters HADHA-related disorder ⚠
p.Val503Met Multiple submitters Inborn genetic diseases ⚠
p.Val643Met Multiple submitters Inborn genetic diseases ⚠
p.Val705Ile Multiple submitters mitochondrial trifunctional protein deficiency 1 ⚠
c.1085+5G>A Single submitter mitochondrial trifunctional protein deficiency
c.1393-3C>T Single submitter mitochondrial trifunctional protein deficiency
c.1480-139C>G Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1480-3C>T Single submitter mitochondrial trifunctional protein deficiency
c.180+3A>T Single submitter
c.2000+5G>C Single submitter mitochondrial trifunctional protein deficiency
c.2146+19G>C Single submitter mitochondrial trifunctional protein deficiency
c.2147-2A>G Single submitter mitochondrial trifunctional protein deficiency
c.454-13C>T Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.573+6T>C Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.676+6T>C Single submitter mitochondrial trifunctional protein deficiency
c.677-3T>C Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.68-414A>G Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.799+5G>A Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.-17G>A Single submitter
c.-279G>C Single submitter mitochondrial trifunctional protein deficiency
c.-3A>T Single submitter
c.*103A>T Single submitter mitochondrial trifunctional protein deficiency
c.*110G>A Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.*182C>T Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.*239C>T Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.*355C>T Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.*389C>G Single submitter mitochondrial trifunctional protein deficiency
c.*403C>T Single submitter mitochondrial trifunctional protein deficiency
c.*405C>T Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.*437T>A Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.*46G>A Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.*489G>A Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.*494G>T Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.*586G>A Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.*59C>T Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Ala100Gly Single submitter ⚠
p.Ala102Val Single submitter Inborn genetic diseases ⚠
p.Ala209Val Single submitter Inborn genetic diseases ⚠
p.Ala270Thr Single submitter mitochondrial trifunctional protein deficiency ⚠
p.Ala3Thr Single submitter Inborn genetic diseases ⚠
p.Ala464Val Single submitter ⚠
p.Ala478Pro Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Ala552Val Single submitter mitochondrial trifunctional protein deficiency ⚠
p.Ala600Val Single submitter ⚠
p.Ala6Glu Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Ala738Val Single submitter mitochondrial trifunctional protein deficiency ⚠
p.Ala739Ser Single submitter mitochondrial trifunctional protein deficiency ⚠
p.Ala81Thr Single submitter mitochondrial trifunctional protein deficiency ⚠
p.Ala81Val Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Ala88Val Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Arg159Gly Single submitter Inborn genetic diseases ⚠
p.Arg187Ser Single submitter Inborn genetic diseases ⚠
p.Arg208Cys Single submitter ⚠
p.Arg208His Single submitter mitochondrial trifunctional protein deficiency ⚠
p.Arg27His Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Arg457Gly Single submitter ⚠
p.Arg53Gln Single submitter ⚠
p.Arg560Gly Single submitter Inborn genetic diseases ⚠
p.Arg630Gly Single submitter mitochondrial trifunctional protein deficiency ⚠
p.Arg630Pro Single submitter Inborn genetic diseases ⚠
p.Arg719Cys Single submitter Inborn genetic diseases ⚠
p.Asn42Ser Single submitter ⚠
p.Asn77Ser Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Asp199Tyr Single submitter Inborn genetic diseases ⚠
p.Asp442Val Single submitter mitochondrial trifunctional protein deficiency ⚠
p.Asp567Tyr Single submitter Inborn genetic diseases ⚠
p.Asp647His Single submitter mitochondrial trifunctional protein deficiency ⚠
p.Asp670del Single submitter
p.Asp670Gly Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Cys156Tyr Single submitter mitochondrial trifunctional protein deficiency ⚠
p.Cys470Gly Single submitter Inborn genetic diseases ⚠
p.Cys4Gly Single submitter Inborn genetic diseases ⚠
p.Cys688Tyr Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Gln114Arg Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Gln121Arg Single submitter mitochondrial trifunctional protein deficiency ⚠
p.Gln325= Single submitter mitochondrial trifunctional protein deficiency
p.Gln378Glu Single submitter Inborn genetic diseases ⚠
p.Gln507Glu Single submitter ⚠
p.Gln84His Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Glu238Ala Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Glu323Val Single submitter Inborn genetic diseases ⚠
p.Glu329Gln Single submitter ⚠
p.Glu515Gln Single submitter ⚠
p.Glu590Lys Single submitter Inborn genetic diseases ⚠
p.Glu601Lys Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Glu617Lys Single submitter Inborn genetic diseases ⚠
p.Glu641Asp Single submitter Inborn genetic diseases ⚠
p.Glu737Gln Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Gly170Asp Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Gly184Ser Single submitter Inborn genetic diseases ⚠
p.Gly250Glu Single submitter Inborn genetic diseases ⚠
p.Gly311Ala Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Gly315Glu Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Gly370Arg Single submitter ⚠
p.Gly400Ala Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Gly44Arg Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Gly542Glu Single submitter Inborn genetic diseases ⚠
p.Gly583Asp Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Gly604= Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Gly633Arg Single submitter Inborn genetic diseases ⚠
p.Gly642Ser Single submitter Inborn genetic diseases ⚠
p.Gly707Arg Single submitter Seckel syndrome 6 ⚠
p.Gly716Arg Single submitter ⚠
p.His344Leu Single submitter ⚠
p.Ile104Thr Single submitter ⚠
p.Ile137Thr Single submitter Inborn genetic diseases ⚠
p.Ile237Met Single submitter mitochondrial trifunctional protein deficiency ⚠
p.Ile245Ser Single submitter mitochondrial trifunctional protein deficiency ⚠
p.Ile256Asn Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Ile445Phe Single submitter Inborn genetic diseases ⚠
p.Ile495Thr Single submitter ⚠
p.Ile512Thr Single submitter Inborn genetic diseases ⚠
p.Ile536Thr Single submitter Inborn genetic diseases ⚠
p.Ile54Ser Single submitter mitochondrial trifunctional protein deficiency ⚠
p.Ile729Val Single submitter mitochondrial trifunctional protein deficiency ⚠
p.Leu10Pro Single submitter Inborn genetic diseases ⚠
p.Leu119Pro Single submitter ⚠
p.Leu19Arg Single submitter ⚠
p.Leu217Arg Single submitter Inborn genetic diseases ⚠
p.Leu251Arg Single submitter ⚠
p.Leu264Trp Single submitter mitochondrial trifunctional protein deficiency ⚠
p.Leu452Arg Single submitter Inborn genetic diseases ⚠
p.Leu530His Single submitter Inborn genetic diseases ⚠
p.Leu551Arg Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Leu603Pro Single submitter mitochondrial trifunctional protein deficiency ⚠
p.Leu656Ser Single submitter Inborn genetic diseases ⚠
p.Leu90Arg Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Lys129Arg Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Lys132Glu Single submitter Inborn genetic diseases ⚠
p.Lys166Glu Single submitter mitochondrial trifunctional protein deficiency ⚠
p.Lys262Thr Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Lys267Arg Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Lys303Glu Single submitter Inborn genetic diseases ⚠
p.Lys350Arg Single submitter mitochondrial trifunctional protein deficiency ⚠
p.Lys406Arg Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Lys489Arg Single submitter Inborn genetic diseases ⚠
p.Lys540Glu Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Lys570Asn Single submitter Inborn genetic diseases ⚠
p.Lys597Glu Single submitter mitochondrial trifunctional protein deficiency ⚠
p.Lys631Ile Single submitter ⚠
p.Lys634Glu Single submitter Inborn genetic diseases ⚠
p.Lys644Arg Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Lys664Glu Single submitter Inborn genetic diseases ⚠
p.Lys760fs Single submitter mitochondrial trifunctional protein deficiency
p.Lys94Asn Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Met191Ile Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Met200Thr Single submitter Inborn genetic diseases ⚠
p.Met332Val Single submitter Inborn genetic diseases ⚠
p.Met554Val Single submitter Inborn genetic diseases ⚠
p.Met555Ile Single submitter ⚠
p.Phe706Val Single submitter Inborn genetic diseases ⚠
p.Phe710Tyr Single submitter ⚠
p.Phe761Leu Single submitter ⚠
p.Pro301Thr Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Pro697Ala Single submitter Inborn genetic diseases ⚠
p.Pro711Ser Single submitter mitochondrial trifunctional protein deficiency ⚠
p.Ser144Phe Single submitter mitochondrial trifunctional protein deficiency ⚠
p.Ser577Cys Single submitter mitochondrial trifunctional protein deficiency ⚠
p.Ser65Gly Single submitter ⚠
p.Ser665Phe Single submitter mitochondrial trifunctional protein deficiency ⚠
p.Ser669Ala Single submitter mitochondrial trifunctional protein deficiency ⚠
p.Ser756Arg Single submitter Inborn genetic diseases ⚠
p.Thr171Ile Single submitter mitochondrial trifunctional protein deficiency ⚠
p.Thr393Ala Single submitter ⚠
p.Thr395Asn Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Thr39Ser Single submitter mitochondrial trifunctional protein deficiency ⚠
p.Thr548Ile Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Thr696Ile Single submitter mitochondrial trifunctional protein deficiency ⚠
p.Tyr546Asn Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Tyr724Cys Single submitter Inborn genetic diseases ⚠
p.Val194Met Single submitter ⚠
p.Val243Phe Single submitter ⚠
p.Val282Asp Single submitter mitochondrial trifunctional protein deficiency 1 ⚠
p.Val290Ala Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Val347Ile Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Val404Ala Single submitter Inborn genetic diseases ⚠
p.Val458Leu Single submitter ⚠
p.Val45Gly Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Val465Leu Single submitter mitochondrial trifunctional protein deficiency ⚠
p.Val582Ala Single submitter mitochondrial trifunctional protein deficiency ⚠
p.Val591Gly Single submitter mitochondrial trifunctional protein deficiency ⚠
p.Val593Met Single submitter Inborn genetic diseases ⚠
p.Val623Met Single submitter mitochondrial trifunctional protein deficiency ⚠
p.Val667Gly Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Val89Ile Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
c.1220+2_1220+5dup No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1689+4G>A No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.180+5C>T No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.1886-8T>G No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.918+4A>G No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.919-3T>G No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Ala178Ser No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Ala248Asp No assertion criteria HADHA-related disorder ⚠
p.Ala416Val No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Ala464= No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Ala726Val No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Arg399= No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Asn758Asp No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Asp442Asn No assertion criteria HADHA-related disorder ⚠
p.Asp701Gly No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Asp722Glu No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Cys747Ter No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Gln743Arg No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Gln743dup No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Glu242Lys No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Glu510= No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Gly216_Asp219dup No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Gly700Arg No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.His598Tyr No assertion criteria HADHA-related disorder ⚠
p.Ile305= No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Leu297Phe No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Lys254Glu No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Lys267Glu No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Lys570del No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Lys759Thr No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Met506Thr No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Phe327Ser No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Pro299Ser No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Ser524= No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Thr112Ile No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Thr476Lys No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Thr548Ala No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Tyr639_Gln640insHis No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Val222Met No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Val286Ala No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Val2del No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Val678Leu No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠