Sugi Variant

Sugi Variant/ACADVL

ACADVL — 1977 ClinVar variants

All ClinVar germline ACADVL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 622 flagged for review →

130 Pathogenic · 35 Pathogenic/Likely pathogenic · 310 Likely pathogenic · 129 Conflicting · 33 Benign · 1 Benign/Likely benign · 730 Likely benign · 609 Uncertain significance

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

⚑ Evidence disagreements 622

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 33

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 49

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

Predictors lean, ClinVar uncertain 256

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 256

Predictors split 284

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 284

All ACADVL variants

Pathogenic 130

  • c.1077_1077+1delinsCAC Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.1077+2T>A Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.1077+2T>C Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.1606-3_1606-2del Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.1752-3_1755del Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.1827+1G>A Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.277+1G>A Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.277+2T>G Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.342+1G>C Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.343-1G>A Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.343del Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Ala333fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Arg229Ter Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Arg38fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Arg453Ter Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Arg459Gln Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Asp85fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Gln100fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Gln13Ter Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Glu130del Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Glu381del Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Gly143fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Gly438Glu Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Gly441Asp Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.His181fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Ile184fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Lys382fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Lys482fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Phe214_Cys215insTer Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Phe214fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Pro35fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Ser319Ter Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Ser590fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Val267fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Val283Ala Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg37fs Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Arg613Pro Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Gln100Ter Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Tyr398Ter Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • c.1182+1G>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1182+1G>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1332+2T>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1605+1G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1605+1G>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1605+1G>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1752-1G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1827+1G>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.277+2T>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.621_622+9del Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.623-2A>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.753-1G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Ala232del Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Ala359fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Ala4fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Ala620fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Arg162fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Arg229fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Arg450Cys Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Asn306Lys Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Asn321fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Asn365fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Asn493fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Asn497fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Asp431fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Asp431Gly Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Cys156fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Cys477fs Single submitter ACADVL-related disorder
  • p.Gln182Ter Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Gln2Ter Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Gln380fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Gln380Ter Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Gln542Ter Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Gln81Ter Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Glu104fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Glu107fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Glu114Ter Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Glu130Ter Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Glu199Ter Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Glu277Ter Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Glu548Ter Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Gly11fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Gly254Asp Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Gly301fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Gly439Ala Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Gly486fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Gly523Ter Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.His293fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Ile184= Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Ile302fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Ile460fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Ile552Ter Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Leu102fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Leu105fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Leu10fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Leu136fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Leu163fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Leu178fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Leu529Phe Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Lys137fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Lys204fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Lys239fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Lys247Ter Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Lys276_Val283del Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Lys303fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Lys507Ile Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Lys553fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Met300del Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Met334fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Met386fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Phe259fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Phe421fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Pro219Thr Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ser183fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Ser418Asn Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Ser586Ter Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Ser638fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Thr464fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Trp249Ter Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Trp427Ter Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Tyr201His Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Val109fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Val146Gly Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Val267Gly Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Val322Ala Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Val392Leu Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Val546fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Val547fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Val579fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Val580fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1080_1182+2del No assertion criteria very long chain acyl-CoA dehydrogenase deficiency

Pathogenic/Likely pathogenic 35

  • c.1678+1G>T Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • c.62+1G>A Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Ala359Val Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala415Val Multiple submitters Inborn genetic diseases
  • p.Ala416del Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Ala59fs Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Arg613Gln Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Asn338fs Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Cys237Arg Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Cys237fs Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Gln390Ter Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Gln435Ter Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Gln508Ter Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Gln98fs Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Glu199fs Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Glu277del Multiple submitters ACADVL-related disorder
  • p.Glu561fs Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Gly20Ter Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Gly222Arg Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Gly245Ter Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Gly290fs Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Gly514Glu Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Ile258Thr Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ile356delinsTrpGlnValProTer Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Ile373fs Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Leu136Phe Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Leu202fs Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Leu202Val Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Met437Thr Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Met443Thr Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Phe112fs Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Ser423Ter Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Ser583Trp Multiple submitters ACADVL-related disorder
  • p.Thr210fs Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Val174Met Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠

Likely pathogenic 310

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

  • c.1077+1G>A Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.1077+1G>T Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.1182+1G>A Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.1269+1G>A Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.1375dup Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.1532+1G>A Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.1532+2T>C Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.1605+2T>A Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.1605+2T>C Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.1679-6G>A Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.278-1G>A Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.342+1G>A Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.623-1G>A Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.63-2A>C Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.753-2A>C Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.753-2A>G Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.878+1G>C Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.879-8T>A Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Ala180Thr Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Ala213Pro Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Ala213Thr Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Ala347fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Ala416Thr Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Ala490Pro Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Ala544fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Ala577fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Arg286fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Arg366Cys Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Arg366His Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Arg385Trp Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg450His Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg453Gln Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Arg456His Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Arg459Trp Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Arg469Gln Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg469Trp Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Arg511Gln Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg512fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Arg613Trp Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg615Ter Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Asn122Asp Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Asp257fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Asp50fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Cys215Arg Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Gln145Ter Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Gln368fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Gln562fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Glu115Ter Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Glu130fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Glu218Lys Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Glu309fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Glu432Ter Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Gly140Glu Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Gly185Ser Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Gly289Arg Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Gly354fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Gly407Ala Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Gly439fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Gly43fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Gly463Glu Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Gly503fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Ile166fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Ile189fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Ile228fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Ile291fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Ile336fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Ile457fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Leu172Pro Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Leu202Pro Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Leu27fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Leu470fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Leu502del Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Leu575fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Leu602_Cys603insTer Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Lys103fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Lys264Glu Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Lys278del Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Lys299del Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Lys299Met Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Lys382Gln Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Lys428fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Lys64fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Lys64Ter Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Lys67Ter Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Lys71Ter Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Met352fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Met440fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Met443Arg Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Met478Ile Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Met578fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Phe113fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Phe288fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Phe311fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Phe458Leu Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Phe543fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Pro266fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Pro270fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Pro296fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Pro318Leu Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Pro65fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Pro89fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Pro89Ser Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Ser207Pro Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Ser223Ter Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Ser251Gly Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ser418fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Ser52Ter Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Ser532fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Thr230fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Thr260Met Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Tyr160Ter Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Tyr201Cys Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Tyr391Ter Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Val106fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Val211fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.139-1G>A Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • c.139-1G>T Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • c.1533-2A>C Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • c.1678+1G>A Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • c.1751+1G>A Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • c.477+1G>C Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • c.623-2_623-1del Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Ala226fs Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Ala490Val Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg286Gly Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg366Gly Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Arg459Gly Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Arg538fs Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Gly152Ser Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Gly179Trp Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Gly439Cys Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Ile413Thr Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Leu641Phe Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Lys444= Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Phe369Ser Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Ser21Asn Multiple submitters pancreatic hypoplasia-diabetes-congenital heart disease syndrome ⚠
  • c.1077_1077+1del Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1077+1G>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1077+6T>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1078-1G>C Single submitter
  • c.1078-2A>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1183-2A>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1332+1G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1332+1G>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1333-2A>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1333-2A>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.139-1_139delinsTT Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.139-2A>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.139-2A>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1434+1G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1434+1G>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1434+2T>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1435-1G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1533-1G>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1533-2A>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1606-1G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1679-1del Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1679-1G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1751+2T>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1751+2T>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1752-2A>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1752-2del Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.200_204+19del Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.201_204+13del Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.204+1G>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.205-14CT[3] Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.205-1G>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.205-2A>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.205-2A>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.277+2T>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.477+1G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.477+2T>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.479_486del Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.62+1G>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.62+2T>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.62+2T>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.62+6T>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.623-19_623-3del Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.879-1G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.879-2_879-1del Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.879-2A>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.879-88_896del Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Ala141fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Ala161Asp Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Ala161Ser Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala161Val Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala212Asp Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Ala281Asp Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Ala281fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Ala349Glu Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Ala425Val Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala473fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Ala490Gly Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala596fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Ala612fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Arg286Lys Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg366Leu Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Arg366Pro Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Arg450Ser Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Arg613Leu Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Asn122fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Asn122Lys Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Asn306fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Asp361Tyr Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Asp405Asn Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Asp405His Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Asp466Tyr Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Cys215Ter Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Gln159fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Gln197fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Gln197Lys Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Gln2fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Gln30fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Gln412fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Gln412Ter Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Glu285Gly Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Glu285Val Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Glu394fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Glu414fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Gly140Arg Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Gly185Ala Single submitter
  • p.Gly185Cys Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Gly193fs Single submitter
  • p.Gly208Arg Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Gly222Ala Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Gly294Arg Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Gly301Asp Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Gly350Val Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Gly42fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Gly438Ala Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Gly439Arg Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Gly439Val Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Gly514Ala Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Gly516fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Gly80Arg Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Gly80Asp Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.His374Pro Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ile189Thr Single submitter
  • p.Ile614fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Leu102Pro Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Leu125Val Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Leu172Phe Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Leu202Phe Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Leu24fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Leu255Pro Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Leu502fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Leu515fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Leu540Pro Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Lys247Arg Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Lys247Asn Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Lys247Glu Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Lys247Thr Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Lys358fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Met334Ile Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Met334Thr Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Phe112Leu Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Phe113Ile Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Phe330fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Phe471fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Phe78fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Pro108fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Pro219His Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Pro219Leu Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Pro219Ser Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ser148fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Ser220fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Ser520fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Ser583Ala Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ser583Ter Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Thr131fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Thr158Asn Single submitter
  • p.Thr280Arg Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Thr280Ile Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Thr292fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Thr545fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Trp606Arg Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Trp606Cys Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Tyr201fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Tyr201Ter Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Tyr240fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Tyr240Ter Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Tyr90fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Val164Glu Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Val164Met Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Val167fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Val211_Ala212insTer Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Val284= Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Val284fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Val326Asp Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Val547Met Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Val642Ala Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Val87fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1182+2T>C No assertion criteria very long chain acyl-CoA dehydrogenase deficiency
  • c.1183-1G>A No assertion criteria very long chain acyl-CoA dehydrogenase deficiency
  • c.1434+2T>G No assertion criteria very long chain acyl-CoA dehydrogenase deficiency
  • c.1606-2A>C No assertion criteria very long chain acyl-CoA dehydrogenase deficiency
  • c.277+1del No assertion criteria very long chain acyl-CoA dehydrogenase deficiency
  • c.277+1G>T No assertion criteria very long chain acyl-CoA dehydrogenase deficiency
  • c.478-1G>C No assertion criteria very long chain acyl-CoA dehydrogenase deficiency
  • p.Ala572fs No assertion criteria very long chain acyl-CoA dehydrogenase deficiency

Conflicting classifications of pathogenicity 129

  • c.1077+16G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1182+3G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1182+3G>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1183-15A>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1333-3T>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.139-1G>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.139-20C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1434+14T>A Single submitter Inborn genetic diseases
  • c.1434+14T>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1605+6_1605+7inv Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1605+7G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1827+10G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1828-4C>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.205-7T>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.205-8_205-7delinsGC Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.205-8C>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.277+6G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.342+18G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.343-14T>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.477+50A>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.477+8C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.62+9G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.753-27C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.753-9C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.879-16C>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.-11G>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.-36A>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.*8C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Ala124Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala161Thr Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala212Val Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala213Val Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala232Thr Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala349Thr Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala416Ser Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala425Thr Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala426Thr Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala539Asp Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg162His Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg316Gln Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg316Trp Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg353Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg385Gln Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg456Cys Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg456Pro Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg459Pro Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg511Trp Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg512Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg538Gln Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg567Gln Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg567Trp Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg613Gly Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Asn338Ser Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Asp171Glu Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Asp361Asn Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Asp405= Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Asp454Asn Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Cys215Ser Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Cys237Tyr Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Cys607Ser Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Cys607Tyr Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Gln182Pro Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Gln406Pro Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Gln627= Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Gln98His Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Glu285Asp Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Glu285Gln Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Glu297del Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Glu414Ala Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Glu462Lys Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Glu534Lys Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Gly135_Lys137del Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Gly143Asp Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Gly152Asp Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Gly179Arg Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Gly208Glu Single submitter ACADVL-related disorder ⚠
  • p.Gly254Ser Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Gly289Glu Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Gly290Asp Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Gly340Val Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Gly439Asp Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Gly441Ala Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Gly441Ser Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Gly514Arg Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Gly533= Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Gly571Arg Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Gly76Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly80Ala Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ile355Thr Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ile356del Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Ile608= Single submitter Inborn genetic diseases
  • p.Ile637fs Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Leu125Pro Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Leu178Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu202His Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Leu243His Single submitter ACADVL-related disorder ⚠
  • p.Leu323= Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Leu502Val Single submitter Inborn genetic diseases ⚠
  • p.Lys298= Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Lys382Asn Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Lys556del Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Met300Arg Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Met300Val Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Met352Thr Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Met352Val Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Met396Val Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Phe282Ser Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Phe342Leu Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Phe369Cys Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Phe376Ser Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Pro318Ser Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Pro91Gln Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ser221Gly Single submitter ACADVL-related disorder ⚠
  • p.Ser319= Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Ser489Arg Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ser72Phe Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ser92= Single submitter Inborn genetic diseases
  • p.Thr230Ile Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Thr409Arg Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Thr409Met Single submitter Inborn genetic diseases ⚠
  • p.Tyr241Cys Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Val146Leu Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Val164Gly Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Val261Ala Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Val400Met Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Val429= Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Val525= Single submitter Inborn genetic diseases
  • p.Val642Met Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Val93Met Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠

Benign 33

Benign/Likely benign 1

  • p.Asn321= Multiple submitters Inborn genetic diseases

Likely benign 730

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

  • c.1077+15C>T Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.1532+7T>C Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.1606-22C>T Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.1678+15C>T Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.1678+23C>T Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.1751+18G>A Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.1827+8T>C Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.63-31C>T Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Ala274= Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Arg511= Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Arg613= Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Arg615Gln Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Gly193= Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Leu491= Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Lys428= Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Lys63= Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Pro527= Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Ser221= Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.138+10C>G Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • c.1532+11G>A Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • c.1532+20C>G Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • c.1752-19A>G Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • c.1828-20C>T Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • c.278-20C>T Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • c.278-31_278-18del Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • c.477+12C>G Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • c.62+10del Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Ala226= Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Ala505= Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Ala585= Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Ala596= Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Arg286= Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Asn252= Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Asp123= Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Asp570= Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Asp85= Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Gln622= Multiple submitters Inborn genetic diseases
  • p.Glu165= Multiple submitters Inborn genetic diseases
  • p.Glu285= Multiple submitters Inborn genetic diseases
  • p.Gly173= Multiple submitters Inborn genetic diseases
  • p.Gly18= Multiple submitters Inborn genetic diseases
  • p.Gly188= Multiple submitters Inborn genetic diseases
  • p.Gly253= Multiple submitters Inborn genetic diseases
  • p.Gly324= Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Gly523= Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Leu105= Multiple submitters Inborn genetic diseases
  • p.Phe288= Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Pro318= Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Pro91= Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Ser522= Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Thr367= Multiple submitters Inborn genetic diseases
  • p.Tyr160= Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Tyr631= Multiple submitters Inborn genetic diseases
  • p.Val211= Multiple submitters Inborn genetic diseases
  • p.Val647= Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • c.1077+10C>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1077+11T>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1077+11T>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1077+13C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1077+15C>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1077+8C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1077+9C>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1078-10C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1078-11C>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1078-13G>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1078-15T>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1078-18G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1078-23G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1078-8T>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1078-9C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1182+13C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1182+142G>C Single submitter
  • c.1182+15A>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1182+16G>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1182+18C>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1182+18C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1182+19C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1182+9C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1183-11T>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1183-4T>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1183-6C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1269+10C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1269+11A>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1269+12G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1269+13G>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1269+14C>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1269+15A>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1269+16T>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1269+18C>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1269+18C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1269+20G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1269+22dup Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1269+7T>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1269+8C>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1269+9C>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1270-12C>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1270-14T>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1270-17C>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1270-17C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1270-18T>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1270-20C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1270-6C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1270-9T>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.132-383A>G Single submitter
  • c.132-431C>T Single submitter
  • c.1332+10G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1332+10G>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1332+11G>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1332+12T>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1332+16C>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1332+16C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1332+17T>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1332+19C>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1332+7G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1332+9_1332+10insTCC Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1332+9C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1333-10C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1333-14T>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1333-16T>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1333-17G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1333-18T>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1333-19T>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1333-19T>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1333-20T>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1333-21_1333-20del Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1333-4C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1333-5G>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1333-6T>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1333-7G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1333-7G>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1333-7G>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1333-8T>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.138+10C>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.138+10C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.138+15C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.138+17T>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.138+7C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.139-10C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.139-11T>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.139-12C>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.139-13T>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.139-14G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.139-14G>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.139-15C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.139-16C>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.139-16C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.139-19T>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.139-5C>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.139-5C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.139-7_139-6del Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.139-7T>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1434+11_1434+12del Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1434+12A>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1434+12A>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1434+15dup Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1434+18G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1434+19T>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1434+20G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1434+20G>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1434+20G>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1434+6_1434+8dup Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1434+7C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1435-11T>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1435-15C>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1435-15C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1435-16C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1435-19G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1435-19G>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1435-20T>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1435-27T>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1435-4A>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1435-4A>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1435-4del Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1435-5C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1435-7C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1435-9C>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1435-9C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1532+10G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1532+10G>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1532+19C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1532+7T>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1533-12T>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1533-13C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1533-15C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1533-20A>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1533-4T>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1533-5C>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1533-6T>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1533-6T>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1533-7del Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1605+11A>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1605+12G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1605+13G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1605+14G>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1605+15G>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1605+20G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1605+7G>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1605+8G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1605+9C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1606-11C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1606-16G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1606-17T>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1606-19A>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1606-20C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1606-40G>A Single submitter
  • c.1606-5_1606-4del Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1606-5T>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1606-6C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1678+14A>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1678+16A>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1678+17C>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1678+17C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1678+18C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1678+29T>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1678+7G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1678+9_1678+10delinsAG Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1678+9_1678+10delinsCG Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1678+9G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1679-10T>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1679-11C>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1679-13A>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1679-13A>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1679-16C>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1679-17C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1679-18A>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1679-19C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1679-35CCCCCA[2] Single submitter
  • c.1679-35CCCCCA[4] Single submitter
  • c.1679-5del Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1679-5G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1679-5G>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1679-7C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1751+12G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1751+12G>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1751+16G>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1751+16G>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1751+30C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1751+7_1751+9del Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1751+7A>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1751+7A>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1751+8G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1751+9G>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1752-10T>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1752-14C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1752-15C>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1752-17C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1752-19A>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1752-20C>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1752-20C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1752-36G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1752-4C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1752-5G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1752-8C>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1827+11G>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1827+12G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1827+17C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1827+7C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1827+9C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1828-14T>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1828-16C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1828-17T>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1828-18C>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1828-20C>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1828-4C>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1828-5C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1828-7_1828-5dup Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1828-8C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.204+11C>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.204+11C>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.204+12C>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.204+12C>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.204+12C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.204+13G>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.204+14A>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.204+15G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.204+16G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.204+18C>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.204+18C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.204+19A>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.204+19A>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.204+8G>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.204+9C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.205-10C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.205-12C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.205-13T>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.205-15C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.205-17T>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.205-20A>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.205-3dup Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.205-5C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.205-6G>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.205-6G>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.277+10G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.277+11G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.277+12G>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.277+14T>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.277+15A>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.277+18C>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.277+18C>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.277+20G>C Single submitter very long chain acyl-CoA dehydrogenase deficiency

Uncertain significance 609

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

  • c.1182+17C>A Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.1183-7A>G Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.1269+1del Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.1332+2T>A Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.1533-4T>A Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.1678+3_1678+6del Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.342+15G>A Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.477+17G>A Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.62+18G>A Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • c.622+12C>A Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Ala304Thr Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala304Val Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala359= Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Arg531Trp Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg538Pro Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg632Cys Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Asn633fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Cys603fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Gln159Arg Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Gln368Pro Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Gln628fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Glu165Val Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Gly143Ala Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Gly188Ser Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Gly193Arg Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Gly193Asp Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Gly273Ala Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Gly294Glu Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.His293Tyr Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ile356Val Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ile413Met Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Leu144Val Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Lys103Arg Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Lys358Glu Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Lys67= Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Met169_Gly175del Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Met334Arg Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Met437Val Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Met601fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Phe113Leu Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Phe142Ser Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Phe214Val Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Phe471Leu Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Pro147Ser Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ser423= Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Ser583Leu Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ter656Arg Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Ter656Cys Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Ter656Ser Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Trp606Ter Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Trp626Ter Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Tyr631fs Expert panel very long chain acyl-CoA dehydrogenase deficiency
  • p.Val174Ala Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Val87Ala Expert panel very long chain acyl-CoA dehydrogenase deficiency ⚠
  • c.1077+3_1077+6del Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • c.1182+5G>A Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • c.139-3C>T Multiple submitters Inborn genetic diseases
  • c.1605+3A>G Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • c.1678+4A>T Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • c.277+6G>T Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • c.342+4A>C Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • c.878+33T>G Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • c.*53C>T Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Ala120del Multiple submitters very long chain acyl-CoA dehydrogenase deficiency
  • p.Ala124Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ala196Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala271Thr Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala281Pro Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala36Val Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala384Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ala402Val Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala48Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala585Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala610Val Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala620Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala66Gly Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala66Thr Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg111Cys Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg111His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg162Cys Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg229Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg32Gln Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg341Thr Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg512Gln Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg531Gln Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg538Trp Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg644Gln Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg644Pro Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg644Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Asp118Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp431His Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Asp624His Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Asp85His Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Cys156Ser Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Cys215Tyr Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Cys603Arg Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Gln100Glu Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Gln145His Multiple submitters Inborn genetic diseases ⚠
  • p.Gln412His Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Gln562Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Glu114Lys Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Glu115Gln Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Glu126Asp Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Glu129Lys Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Glu165Asp Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Glu165Lys Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Glu277Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu325Asp Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Glu449Gln Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Glu541Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu548Val Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Glu609Ala Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Glu609Lys Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Glu96Lys Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Gly135Cys Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Gly143Cys Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Gly314Arg Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Gly340Glu Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Gly350Ser Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Gly499Ala Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Gly518Ser Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Gly523Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly617Ser Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.His181Arg Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.His335Gln Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ile250Val Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ile336Asn Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ile336Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile355Val Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ile467Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile558Thr Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Leu27Phe Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Leu337Phe Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Leu348Pro Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Leu378Pro Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Leu383Val Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Leu60Arg Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Leu82Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Lys195Glu Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Lys198Glu Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Lys239Glu Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Lys303Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Lys331Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Met127Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Met169Val Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Met334Val Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Met578Thr Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Met601Ile Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Phe192Ser Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Phe262Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Phe288Ile Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Phe461Ser Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Phe634Cys Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Phe655Tyr Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Pro108Ala Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Pro295Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro625Ala Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Pro91Ser Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ser110Phe Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ser148Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Ser22Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser22Trp Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ser246Gly Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ser319Leu Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ser423Leu Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ser638Phe Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Thr210Pro Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Thr242Ile Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Thr351Asn Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Thr393Ala Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Trp427Cys Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Val109Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val167Met Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Val275Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val317Ala Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Val317Met Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Val322Met Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Val360Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Val93Leu Multiple submitters very long chain acyl-CoA dehydrogenase deficiency ⚠
  • c.1077+5G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1078-5T>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1182+2dup Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1269+13dup Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1269+25G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1332+5A>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1333-13G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1333-3T>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1435-3T>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1532+6C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1533-3C>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1605+5_1605+6inv Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1605+6_1605+7delinsCC Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1606-10A>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1678+2dup Single submitter
  • c.1679-40T>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1751+14C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.1751+31G>C Single submitter Likely inborn error of metabolism
  • c.1751+5G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.204+4G>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.205-34A>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.205-5C>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.277+5G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.277+5G>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.342+2dup Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.478-44C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.62+5G>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.623-35C>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.623-4A>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.752+5C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.752+6C>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.752+6C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.753-11T>G Single submitter
  • c.753-36C>T Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.753-5del Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.878+29G>C Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.878+3G>A Single submitter
  • c.878+5_878+8del Single submitter
  • c.879-11C>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.879-13T>A Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.879-14C>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.-72_-71insGAGGACGTGGGCGTG Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.*116C>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.*32T>G Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • c.*8del Single submitter
  • p.Ala120Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala141Ser Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala196Pro Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala256Pro Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala263Thr Single submitter ⚠
  • p.Ala274Val Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala308Thr Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala333Thr Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala333Val Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala346Glu Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala346Gly Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala346Val Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala347Val Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala349Pro Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala3Val Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala402Asp Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala408Thr Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala416Pro Single submitter ⚠
  • p.Ala48Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala48Val Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala490Thr Single submitter ⚠
  • p.Ala4Asp Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala513Glu Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala513Gly Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala513Pro Single submitter ⚠
  • p.Ala539Val Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala544Thr Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala577Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala585Asp Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala611Val Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala612Gly Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala612Val Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala619Thr Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala68= Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Ala74Val Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Ala7Asp Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg12Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg12Leu Single submitter ⚠
  • p.Arg12Trp Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg229Gly Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg23Leu Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg353Gly Single submitter ⚠
  • p.Arg37Gln Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg453Pro Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg469Leu Single submitter ⚠
  • p.Arg584Lys Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg584Thr Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg587Lys Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg5Gly Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Arg632His Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Asn117Lys Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Asn244Lys Single submitter ⚠
  • p.Asn252Lys Single submitter ⚠
  • p.Asn252Ser Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Asn321Ile Single submitter ⚠
  • p.Asn321Lys Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Asn339Tyr Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Asn365Asp Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Asn493Lys Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Asn651Lys Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Asn95Lys Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Asp118_Pro119del Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Asp123Asn Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Asp123Glu Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Asp123Gly Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Asp123Tyr Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Asp257Asn Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Asp257Gly Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Asp257Val Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Asp313del Single submitter very long chain acyl-CoA dehydrogenase deficiency
  • p.Asp313His Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Asp361Gly Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Asp405Gly Single submitter ⚠
  • p.Asp454Gly Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Asp454His Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠
  • p.Asp479Asn Single submitter very long chain acyl-CoA dehydrogenase deficiency ⚠