ETFB — 369 ClinVar variants
All ClinVar germline ETFB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 98 flagged for review →
8 Pathogenic · 7 Pathogenic/Likely pathogenic · 24 Likely pathogenic · 16 Conflicting · 39 Benign · 3 Benign/Likely benign · 168 Likely benign · 104 Uncertain significance
Full ETFB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 98
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 7
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ETFB p.Ala193Thr
Conflicting
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Arg164Trp
Conflicting
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Arg191Cys
Conflicting
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Asp128Asn
Conflicting
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Pro92Ser
Conflicting
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Pro93Leu
Conflicting
Single submitter
Inborn genetic diseases
-
ETFB p.Val237Ile
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 49
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ETFB p.Ala45Val
Uncertain significance
Multiple submitters
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Ala78Thr
Uncertain significance
Multiple submitters
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Arg174Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ETFB p.Arg21Gln
Uncertain significance
Multiple submitters
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Arg233Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ETFB p.Arg254Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ETFB p.Arg5Leu
Uncertain significance
Multiple submitters
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Arg76His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ETFB p.Arg98His
Uncertain significance
Multiple submitters
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Asp167His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ETFB p.Gly236Ser
Uncertain significance
Multiple submitters
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Gly28Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ETFB p.Ile62Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ETFB p.Lys200Glu
Uncertain significance
Multiple submitters
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Lys56Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ETFB p.Pro40Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ETFB p.Thr194Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ETFB p.Val120Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ETFB p.Ala109Asp
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Ala45Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ETFB p.Ala45Thr
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Ala80Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ETFB p.Ala94Glu
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Arg174Gly
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Arg191His
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Arg21Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
ETFB p.Arg51Gly
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
- ETFB p.Arg85Pro Uncertain significance Single submitter
-
ETFB p.Asn132Thr
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Asn188Lys
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Asn197Asp
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Asp167Asn
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
- ETFB p.Asp184Glu Uncertain significance Single submitter
-
ETFB p.Gln232Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- ETFB p.Glu243Ala Uncertain significance Single submitter
-
ETFB p.Glu48Lys
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Gly236Arg
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Gly33Asp
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Gly86Val
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
- ETFB p.Leu79Pro Uncertain significance Single submitter
-
ETFB p.Met137Ile
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Met38Thr
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Phe41Ser
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Pro230Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ETFB p.Val18Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ETFB p.Val18Gly
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Val18Leu
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Val8Leu
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
- ETFB p.Gln125Glu Uncertain significance No assertion criteria
Predictors split 42
The independent predictors disagree with each other — read with care.
-
ETFB p.Ala83Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ETFB p.Arg164Gln
Pathogenic/Likely pathogenic
Multiple submitters
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Arg51Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ETFB p.Arg85Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ETFB p.Asp118Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ETFB p.Gly28Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ETFB p.Ile14Leu
Uncertain significance
Multiple submitters
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Ile166Met
Uncertain significance
Multiple submitters
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Thr154Met
Benign
Multiple submitters
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Thr31Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ETFB p.Val181Met
Uncertain significance
Multiple submitters
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Val64Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ETFB p.Val8Ile
Uncertain significance
Multiple submitters
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Ala112Ser
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
- ETFB p.Ala150Thr Uncertain significance Single submitter
-
ETFB p.Ala17Ser
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Arg106Trp
Conflicting
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Arg254Trp
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Arg26Ser
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Arg98Cys
Conflicting
Single submitter
Inborn genetic diseases
- ETFB p.Asn188Ser Uncertain significance Single submitter
-
ETFB p.Glu115Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ETFB p.Glu189Lys
Conflicting
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Ile44Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
ETFB p.Ile62Met
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Ile87Val
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
- ETFB p.Leu7Phe Uncertain significance Single submitter
-
ETFB p.Leu99Phe
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Lys204Arg
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
- ETFB p.Lys55Arg Uncertain significance Single submitter
- ETFB p.Met81Val Uncertain significance Single submitter
-
ETFB p.Pro211His
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
- ETFB p.Pro211Leu Uncertain significance Single submitter
-
ETFB p.Pro211Ser
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Ser151Phe
Conflicting
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Ser226Cys
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Thr234Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
ETFB p.Val162Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ETFB p.Val208Met
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Val224Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
ETFB p.Val239Met
Uncertain significance
Single submitter
multiple acyl-CoA dehydrogenase deficiency
-
ETFB p.Val246Met
Uncertain significance
Single submitter
Inborn genetic diseases
All ETFB variants
Pathogenic 8
- p.Asp129fs Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Asp143delinsPhePhePhePhePhePheXaaXaaXaaXaaSerProAspLeuTer Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Gln152Ter Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Glu95fs Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Gly123fs Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Gly28fs Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Leu121fs Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.597+1G>C No assertion criteria glutaric acidemia IIb
Pathogenic/Likely pathogenic 7
- p.Arg164Gln Multiple submitters multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Arg21fs Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- p.Arg21Ter Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- p.Arg85Ter Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- p.Cys42Arg Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- p.Gln136Ter Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- p.Glu60Ter Multiple submitters multiple acyl-CoA dehydrogenase deficiency
Likely pathogenic 24
- c.375+1G>A Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- c.375+1G>T Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- c.216+1G>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.216+2T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.341_375+154del Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.375+1G>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.376-2A>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.439-1G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.59_63dup Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Arg12fs Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Arg164Leu Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Asp32fs Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Gln125His Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Gln232Ter Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Gln70fs Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Gln72Ter Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Glu54Lys Single submitter
- p.Leu79Gln Single submitter
- p.Lys114fs Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Lys55Ter Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Pro211fs Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Val224fs Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Val46fs Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.58-57C>T No assertion criteria multiple acyl-CoA dehydrogenase deficiency
Conflicting classifications of pathogenicity 16
- c.439-8C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.598-1del Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Ala193Thr Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Arg106Trp Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Arg164Trp Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Arg191Cys Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Arg98Cys Single submitter Inborn genetic diseases ⚠
- p.Asp128Asn Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Glu189Lys Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Met1Thr Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Pro92Ser Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Pro93Leu Single submitter Inborn genetic diseases ⚠
- p.Ser151Phe Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Val237Ile Single submitter Inborn genetic diseases ⚠
- p.Val58= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Val6= Single submitter multiple acyl-CoA dehydrogenase deficiency
Benign 39
- c.217-124C>T Multiple submitters
- c.217-131T>C Multiple submitters
- c.217-60G>A Multiple submitters
- c.217-75A>G Multiple submitters
- c.217-87C>T Multiple submitters
- c.217-97C>G Multiple submitters
- c.376-112C>G Multiple submitters
- c.438+115G>A Multiple submitters
- c.438+183C>A Multiple submitters
- c.438+187C>T Multiple submitters
- c.438+20C>T Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- c.438+231T>C Multiple submitters
- c.439-173A>G Multiple submitters
- c.439-194G>A Multiple submitters
- c.439-285A>G Multiple submitters
- c.439-321C>T Multiple submitters
- c.439-90A>G Multiple submitters
- c.57+178C>T Multiple submitters
- c.58-142G>A Multiple submitters
- c.58-176C>T Multiple submitters
- c.58-478G>A Multiple submitters
- c.58-57dup Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- c.597+191G>A Multiple submitters
- c.597+227C>G Multiple submitters
- c.-170T>C Multiple submitters
- c.-36G>C Multiple submitters
- p.Phe149= Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- p.Thr154Met Multiple submitters multiple acyl-CoA dehydrogenase deficiency ⚠
- c.216+18del Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.375+175G>A Single submitter
- c.376-179G>A Single submitter
- c.376-227C>T Single submitter
- c.438+295G>C Single submitter
- c.57+258A>G Single submitter
- c.58-1863G>A Single submitter
- c.58-318_58-313dup Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.598-189T>C Single submitter
- c.598-199T>C Single submitter
- p.Ile206= Single submitter multiple acyl-CoA dehydrogenase deficiency
Benign/Likely benign 3
- c.217-4G>T Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- c.58-212A>C Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- c.58-96G>A Multiple submitters multiple acyl-CoA dehydrogenase deficiency
Likely benign 168
- c.58-91C>T Multiple submitters
- c.597+17C>A Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- c.597+8C>T Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- c.598-14C>T Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- c.-58C>T Multiple submitters
- p.Arg174His Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- p.Arg85= Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- p.Gly236= Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- p.Ile166= Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- p.Leu173= Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- p.Thr194= Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- p.Thr234= Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- c.216+10G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.216+12C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.216+15G>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.216+20G>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.216+7A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.217-14T>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.217-15C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.217-9C>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.375+14G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.375+16C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.375+19C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.375+215G>A Single submitter
- c.375+7G>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.376-10C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.376-12C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.376-16G>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.376-292T>C Single submitter
- c.376-7C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.438+10G>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.438+12G>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.438+13T>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.438+18A>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.438+7C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.439-136C>G Single submitter
- c.439-14C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.439-18T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.439-20_439-18del Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.439-20C>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.439-4C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.439-7T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.57+10C>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.57+10C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.57+11C>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.57+11C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.57+14C>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.57+16del Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.57+16T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.57+36C>T Single submitter
- c.57+46T>G Single submitter
- c.57+7G>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.57+9G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.58-10T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.58-10T>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.58-12C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.58-15C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.58-20C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.58-7T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.58-8_58-6del Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.597+12_597+25del Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.597+13C>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.597+17C>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.597+17C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.597+18G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.597+19G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.597+6C>A Single submitter
- c.597+9C>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.597+9C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.598-10C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.598-11C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.598-15G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.598-15G>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.598-18A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.598-6G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.598-7T>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.598-8A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.598-8A>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.598-9C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.-16T>C Single submitter
- c.-44C>A Single submitter
- p.Ala105= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Ala109= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Ala150= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Ala2= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Ala201= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Ala235= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Ala45= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Ala63= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Ala94= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Arg164= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Arg21= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Arg254= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Arg5= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Arg51= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Asn188= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Asn39= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Asp118= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Asp229Glu Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Asp244= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Asp25= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Asp84= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Cys131= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Gln152= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Glu3= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Glu60= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Glu95= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Gly157= Single submitter
- p.Gly168= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Gly212= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Gly33= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Gly67= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Gly86Ala Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.His88= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Ile127= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Ile44= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Ile62= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Ile75= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Leu102= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Leu108= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Leu119= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Leu142= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Leu160= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Leu177= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Leu185= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Leu218= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Leu222= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Leu249= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Leu4= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Leu52= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Leu79= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Leu99= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Lys11= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Lys221= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Lys23= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Phe41= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Pro196= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Pro211= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Pro230= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Pro24= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Pro68= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Ser223= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Ser37= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Thr134= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Thr138= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Thr148= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Thr154= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Thr172= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Thr242= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Thr27= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Thr31= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Thr74= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Thr77= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Tyr16= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Tyr192= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Val10= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Val117= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Val216= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Val30= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Val46= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Val8= Single submitter
- p.Val89= Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Val91= Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.216+282G>T No assertion criteria
- c.58-175C>T No assertion criteria ETFB-related disorder
- c.58-195A>C No assertion criteria ETFB-related disorder
- c.58-333A>C No assertion criteria ETFB-related disorder
- p.Lys59= No assertion criteria ETFB-related disorder
Uncertain significance 104
- c.58-87A>C Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- p.Ala45Val Multiple submitters multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Ala78Thr Multiple submitters multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Ala83Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg174Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg21Gln Multiple submitters multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Arg233Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg254Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg51Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg5Leu Multiple submitters multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Arg76His Multiple submitters Inborn genetic diseases ⚠
- p.Arg85Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg98His Multiple submitters multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Asp118Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asp167His Multiple submitters Inborn genetic diseases ⚠
- p.Glu115del Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- p.Gly236Ser Multiple submitters multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Gly28Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly28Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ile14Leu Multiple submitters multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Ile166Met Multiple submitters multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Ile62Val Multiple submitters Inborn genetic diseases ⚠
- p.Lys200Glu Multiple submitters multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Lys205del Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- p.Lys56Gln Multiple submitters Inborn genetic diseases ⚠
- p.Pro40Thr Multiple submitters Inborn genetic diseases ⚠
- p.Thr194Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr31Met Multiple submitters Inborn genetic diseases ⚠
- p.Val120Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val181Met Multiple submitters multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Val216fs Multiple submitters multiple acyl-CoA dehydrogenase deficiency
- p.Val64Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val8Ile Multiple submitters multiple acyl-CoA dehydrogenase deficiency ⚠
- c.375+6T>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.376-1156G>A Single submitter
- c.438+3G>C Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.438+4A>G Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.438+5G>A Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.438+5G>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.58-196_58-194del Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.58-27C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.58-6G>A Single submitter
- c.597+6C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- c.598-3C>T Single submitter multiple acyl-CoA dehydrogenase deficiency
- p.Ala109Asp Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Ala112Ser Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Ala150Thr Single submitter ⚠
- p.Ala17Ser Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Ala45Glu Single submitter Inborn genetic diseases ⚠
- p.Ala45Thr Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Ala80Thr Single submitter Inborn genetic diseases ⚠
- p.Ala94fs Single submitter Inborn genetic diseases
- p.Ala94Glu Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Arg174Gly Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Arg191His Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Arg21Pro Single submitter Inborn genetic diseases ⚠
- p.Arg254Trp Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Arg26Ser Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Arg51Gly Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Arg85Pro Single submitter ⚠
- p.Asn132Thr Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Asn188Lys Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Asn188Ser Single submitter ⚠
- p.Asn197Asp Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Asp167Asn Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Asp184Glu Single submitter ⚠
- p.Gln232Pro Single submitter Inborn genetic diseases ⚠
- p.Glu115Gly Single submitter Inborn genetic diseases ⚠
- p.Glu243Ala Single submitter ⚠
- p.Glu48Lys Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Gly236Arg Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Gly33Asp Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Gly86Val Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Ile44Met Single submitter Inborn genetic diseases ⚠
- p.Ile62Met Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Ile87Val Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Leu79Pro Single submitter ⚠
- p.Leu7Phe Single submitter ⚠
- p.Leu99Phe Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Lys204Arg Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Lys55Arg Single submitter ⚠
- p.Met137Ile Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Met38Thr Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Met81Val Single submitter ⚠
- p.Phe41Ser Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Pro211His Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Pro211Leu Single submitter ⚠
- p.Pro211Ser Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Pro230Leu Single submitter Inborn genetic diseases ⚠
- p.Ser226Cys Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Thr234Met Single submitter Inborn genetic diseases ⚠
- p.Val162Ala Single submitter Inborn genetic diseases ⚠
- p.Val18Ala Single submitter Inborn genetic diseases ⚠
- p.Val18Gly Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Val18Leu Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Val208Met Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Val224Met Single submitter Inborn genetic diseases ⚠
- p.Val239Met Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- p.Val246Met Single submitter Inborn genetic diseases ⚠
- p.Val8Leu Single submitter multiple acyl-CoA dehydrogenase deficiency ⚠
- c.376-2A>G No assertion criteria
- c.58-260C>A No assertion criteria
- c.58-53_58-52insG No assertion criteria
- p.Gln125Glu No assertion criteria ⚠