ACADL — 88 ClinVar variants
All ClinVar germline ACADL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 66 flagged for review →
3 Conflicting · 6 Benign · 15 Likely benign · 64 Uncertain significance
Full ACADL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 66
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 lean, ClinVar uncertain 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACADL p.Ala169Glu Uncertain significance Single submitter
- ACADL p.Ala270Ser Uncertain significance Single submitter
- ACADL p.Ala363Thr Uncertain significance Single submitter
- ACADL p.Ala423Ser Uncertain significance Single submitter
- ACADL p.Arg50Gly Uncertain significance Single submitter
- ACADL p.Arg61Trp Uncertain significance Single submitter
- ACADL p.Arg7Leu Uncertain significance Single submitter
-
ACADL p.Cys166Tyr
Uncertain significance
Single submitter
ACADL-related disorder
- ACADL p.Gln160Lys Uncertain significance Single submitter
- ACADL p.Glu174Asp Uncertain significance Single submitter
- ACADL p.Glu291Lys Uncertain significance Single submitter
- ACADL p.Glu395Asp Uncertain significance Single submitter
- ACADL p.Glu70Asp Uncertain significance Single submitter
- ACADL p.Gly32Arg Uncertain significance Single submitter
- ACADL p.Gly8Val Uncertain significance Single submitter
- ACADL p.His332Pro Uncertain significance Single submitter
- ACADL p.Ile266Thr Uncertain significance Single submitter
- ACADL p.Ile417Thr Uncertain significance Single submitter
- ACADL p.Ile47Thr Uncertain significance Single submitter
- ACADL p.Ile49Val Uncertain significance Single submitter
- ACADL p.Lys201Gln Uncertain significance Single submitter
- ACADL p.Met239Thr Uncertain significance Single submitter
- ACADL p.Met418Thr Uncertain significance Single submitter
- ACADL p.Phe263Leu Uncertain significance Single submitter
- ACADL p.Phe305Leu Uncertain significance Single submitter
- ACADL p.Ser373Tyr Uncertain significance Single submitter
- ACADL p.Thr38Ser Uncertain significance Single submitter
- ACADL p.Val384Ile Uncertain significance Single submitter
Predictors split 38
The independent predictors disagree with each other — read with care.
- ACADL p.Glu308Lys Uncertain significance Multiple submitters
-
ACADL p.Ile170Val
Uncertain significance
Multiple submitters
ACADL-related disorder
- ACADL p.Lys333Gln Benign Multiple submitters
- ACADL p.Ala104Thr Uncertain significance Single submitter
- ACADL p.Ala117Pro Uncertain significance Single submitter
- ACADL p.Ala125Val Uncertain significance Single submitter
- ACADL p.Ala227Pro Uncertain significance Single submitter
- ACADL p.Ala259Thr Uncertain significance Single submitter
- ACADL p.Ala272Val Uncertain significance Single submitter
- ACADL p.Ala319Val Uncertain significance Single submitter
- ACADL p.Ala368Val Uncertain significance Single submitter
- ACADL p.Ala93Ser Uncertain significance Single submitter
- ACADL p.Arg267Gln Uncertain significance Single submitter
-
ACADL p.Arg267Trp
Conflicting
Single submitter
long chain acyl-CoA dehydrogenase deficiency
-
ACADL p.Arg311Met
Conflicting
Single submitter
long chain acyl-CoA dehydrogenase deficiency
- ACADL p.Arg345Gln Uncertain significance Single submitter
- ACADL p.Asn220Ser Uncertain significance Single submitter
- ACADL p.Gln182Pro Uncertain significance Single submitter
- ACADL p.Gln331Arg Uncertain significance Single submitter
- ACADL p.Glu304Gln Uncertain significance Single submitter
- ACADL p.Glu336Lys Uncertain significance Single submitter
- ACADL p.Glu91Gly Uncertain significance Single submitter
-
ACADL p.Gly241Ala
Conflicting
Single submitter
long chain acyl-CoA dehydrogenase deficiency
-
ACADL p.His228Arg
Uncertain significance
Single submitter
ACADL-related disorder
- ACADL p.Ile119Phe Uncertain significance Single submitter
- ACADL p.Ile284Asn Uncertain significance Single submitter
- ACADL p.Ile410Val Uncertain significance Single submitter
- ACADL p.Ile422Thr Uncertain significance Single submitter
- ACADL p.Lys155Glu Uncertain significance Single submitter
- ACADL p.Lys315Arg Uncertain significance Single submitter
- ACADL p.Met161Val Uncertain significance Single submitter
- ACADL p.Met367Val Uncertain significance Single submitter
- ACADL p.Phe60Leu Uncertain significance Single submitter
- ACADL p.Pro175Leu Likely benign Single submitter
- ACADL p.Pro19Gln Uncertain significance Single submitter
- ACADL p.Ser63Gly Uncertain significance Single submitter
- ACADL p.Ser86Asn Uncertain significance Single submitter
-
ACADL p.Tyr282Cys
Uncertain significance
No assertion criteria
ACADL-related disorder
All ACADL variants
Conflicting classifications of pathogenicity 3
- p.Arg267Trp Single submitter long chain acyl-CoA dehydrogenase deficiency ⚠
- p.Arg311Met Single submitter long chain acyl-CoA dehydrogenase deficiency ⚠
- p.Gly241Ala Single submitter long chain acyl-CoA dehydrogenase deficiency ⚠
Benign 6
- p.Lys333Gln Multiple submitters ⚠
- p.Val218= Multiple submitters
- c.603+11A>G Single submitter
- p.Thr38Ile Single submitter
- c.372-8dup No assertion criteria ACADL-related disorder
- p.Gly207= No assertion criteria ACADL-related disorder
Likely benign 15
- p.Ala217= Single submitter
- p.Arg26= Single submitter
- p.Asp46= Single submitter
- p.Lys43Asn Single submitter
- p.Pro175Leu Single submitter ⚠
- p.Thr310fs Single submitter
- p.Tyr313= Single submitter
- c.1112+5G>A No assertion criteria ACADL-related disorder
- c.1199+9A>G No assertion criteria ACADL-related disorder
- c.234-4G>A No assertion criteria ACADL-related disorder
- c.870+10G>A No assertion criteria ACADL-related disorder
- p.Ala368= No assertion criteria ACADL-related disorder
- p.Ala3Ser No assertion criteria ACADL-related disorder
- p.Leu13= No assertion criteria ACADL-related disorder
- p.Ser30= No assertion criteria ACADL-related disorder
Uncertain significance 64
- p.Glu308Lys Multiple submitters ⚠
- p.Ile170Val Multiple submitters ACADL-related disorder ⚠
- p.Ser208_Leu209insTer Multiple submitters
- c.871-2A>G Single submitter ACADL-related disorder
- p.Ala104Thr Single submitter ⚠
- p.Ala117Pro Single submitter ⚠
- p.Ala125Val Single submitter ⚠
- p.Ala169Glu Single submitter ⚠
- p.Ala227Pro Single submitter ⚠
- p.Ala259Thr Single submitter ⚠
- p.Ala270Ser Single submitter ⚠
- p.Ala272Val Single submitter ⚠
- p.Ala319Val Single submitter ⚠
- p.Ala363Thr Single submitter ⚠
- p.Ala368Val Single submitter ⚠
- p.Ala423Ser Single submitter ⚠
- p.Ala93Ser Single submitter ⚠
- p.Arg267Gln Single submitter ⚠
- p.Arg345Gln Single submitter ⚠
- p.Arg50Gly Single submitter ⚠
- p.Arg61Trp Single submitter ⚠
- p.Arg7Leu Single submitter ⚠
- p.Asn220Ser Single submitter ⚠
- p.Asn312_Tyr313insValMetPheAsn Single submitter long chain acyl-CoA dehydrogenase deficiency
- p.Cys166Tyr Single submitter ACADL-related disorder ⚠
- p.Gln160Lys Single submitter ⚠
- p.Gln182Pro Single submitter ⚠
- p.Gln331Arg Single submitter ⚠
- p.Glu174Asp Single submitter ⚠
- p.Glu291Lys Single submitter ⚠
- p.Glu304Gln Single submitter ⚠
- p.Glu336Lys Single submitter ⚠
- p.Glu395Asp Single submitter ⚠
- p.Glu70Asp Single submitter ⚠
- p.Glu91Gly Single submitter ⚠
- p.Gly32Arg Single submitter ⚠
- p.Gly8Val Single submitter ⚠
- p.His228Arg Single submitter ACADL-related disorder ⚠
- p.His332Pro Single submitter ⚠
- p.Ile119Phe Single submitter ⚠
- p.Ile266Thr Single submitter ⚠
- p.Ile284Asn Single submitter ⚠
- p.Ile410Val Single submitter ⚠
- p.Ile417Thr Single submitter ⚠
- p.Ile422Thr Single submitter ⚠
- p.Ile47Thr Single submitter ⚠
- p.Ile49Val Single submitter ⚠
- p.Lys155Glu Single submitter ⚠
- p.Lys201Gln Single submitter ⚠
- p.Lys315Arg Single submitter ⚠
- p.Met161Val Single submitter ⚠
- p.Met239Thr Single submitter ⚠
- p.Met367Val Single submitter ⚠
- p.Met418Thr Single submitter ⚠
- p.Phe263Leu Single submitter ⚠
- p.Phe305Leu Single submitter ⚠
- p.Phe60Leu Single submitter ⚠
- p.Pro19Gln Single submitter ⚠
- p.Ser373Tyr Single submitter ⚠
- p.Ser63Gly Single submitter ⚠
- p.Ser86Asn Single submitter ⚠
- p.Thr38Ser Single submitter ⚠
- p.Val384Ile Single submitter ⚠
- p.Tyr282Cys No assertion criteria ACADL-related disorder ⚠