ACADSB — 347 ClinVar variants
All ClinVar germline ACADSB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 83 flagged for review →
11 Pathogenic · 10 Pathogenic/Likely pathogenic · 21 Likely pathogenic · 19 Conflicting · 70 Benign · 4 Benign/Likely benign · 66 Likely benign · 146 Uncertain significance
Full ACADSB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 83
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 4
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
ACADSB p.Gly410Ser
Pathogenic/Likely pathogenic
Multiple submitters
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Met389Val
Pathogenic
Multiple submitters
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Leu255Phe
Pathogenic
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Tyr199Cys
Likely pathogenic
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
Predictors agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ACADSB p.Arg151Lys
Conflicting
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Val339Met
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ACADSB p.Gly182Cys
Uncertain significance
Multiple submitters
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Gly393Val
Uncertain significance
Multiple submitters
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Ile424Thr
Uncertain significance
Multiple submitters
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Met89Val
Uncertain significance
Multiple submitters
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Pro53Ser
Uncertain significance
Multiple submitters
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Ser368Pro
Uncertain significance
Multiple submitters
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Val32Asp
Uncertain significance
Multiple submitters
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Ala52Thr
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Ala5Thr
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
- ACADSB p.Arg13Ser Uncertain significance Single submitter
-
ACADSB p.Arg7Leu
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Asn422Thr
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Cys385Tyr
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Gln300His
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Gln380Glu
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
- ACADSB p.Gly303Ala Uncertain significance Single submitter
-
ACADSB p.Gly379Arg
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Gly390Arg
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Gly3Ala
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Gly410Val
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.His338Gln
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Ile227Thr
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Ile76Ser
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Leu216Pro
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Leu23Val
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Ala407Ser
Uncertain significance
No assertion criteria
microcephaly
Predictors split 51
The independent predictors disagree with each other — read with care.
-
ACADSB p.Glu387Lys
Pathogenic/Likely pathogenic
Multiple submitters
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Lys384Ile
Uncertain significance
Multiple submitters
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Pro262Leu
Uncertain significance
Multiple submitters
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Thr411Met
Uncertain significance
Multiple submitters
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Tyr283Cys
Uncertain significance
Multiple submitters
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Val124Leu
Uncertain significance
Multiple submitters
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Val219Met
Pathogenic/Likely pathogenic
Multiple submitters
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Ala181Thr
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Ala181Val
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Ala214Ser
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Ala214Thr
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Ala345Thr
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Ala354Thr
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Ala367Val
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Ala407Thr
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Arg405Gln
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Asn147Tyr
Conflicting
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Asn202Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACADSB p.Asp59Gly
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
- ACADSB p.Gln158Lys Uncertain significance Single submitter
-
ACADSB p.Glu126Gln
Uncertain significance
Single submitter
ACADSB-related disorder
-
ACADSB p.Glu266Lys
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Gly112Arg
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Gly390Ala
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Gly3Asp
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.His245Arg
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.His245Tyr
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Ile141Leu
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Ile146Phe
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Ile246Val
Likely benign
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Ile320Leu
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Ile386Val
Conflicting
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Ile419Phe
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Leu166Val
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Lys27Glu
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Lys396Glu
Conflicting
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Lys396Thr
Conflicting
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Phe265Leu
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Pro242Leu
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Pro78Thr
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Ser12Arg
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Ser87Leu
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Thr148Ile
Conflicting
Single submitter
Inborn genetic diseases
-
ACADSB p.Thr382Met
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Thr395Ile
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Val124Met
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Val171Gly
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Val237Ala
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Val268Ala
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Val68Phe
Uncertain significance
Single submitter
2-methylbutyryl-CoA dehydrogenase deficiency
-
ACADSB p.Met369Lys
Uncertain significance
No assertion criteria
2-methylbutyryl-CoA dehydrogenase deficiency
All ACADSB variants
Pathogenic 11
- p.Met389Val Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Ser92Ter Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- c.1128+2T>G Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Gly293_Arg294insTer Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Gly391fs Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Leu119fs Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Leu218Pro Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Leu255Phe Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Lys152Ter Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Ser183Asn Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Tyr372Ter Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
Pathogenic/Likely pathogenic 10
- c.303+3A>G Multiple submitters ACADSB-related disorder
- p.Ala160fs Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Cys308Tyr Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Gln99Ter Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Glu126fs Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Glu387Lys Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Gly410Ser Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Trp207Ter Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Val219fs Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Val219Met Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
Likely pathogenic 21
- c.1128+1G>A Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- c.1228+1G>A Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Tyr351Ter Multiple submitters ACADSB-related disorder
- c.1128+1_1128+3del Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.1128+2T>A Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.1228+2T>C Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.202+1G>C Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.304-1G>T Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.510+1G>A Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.681+1G>A Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.901-2A>G Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.990+1G>A Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.992del Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Arg405fs Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Arg7fs Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Ile275fs Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Leu23fs Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Lys170Ter Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Lys248fs Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Tyr199Cys Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Pro249fs No assertion criteria 2-methylbutyryl-CoA dehydrogenase deficiency
Conflicting classifications of pathogenicity 19
- c.1128+3A>T Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.1228+8G>C Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.303+1G>A Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.681+14C>T Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Ala354= Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Arg151Lys Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Arg405Ter Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Asn147Tyr Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Gln73= Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Gly390= Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Ile320= Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Ile386Val Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Lys396Glu Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Lys396Thr Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Phe265= Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Pro225= Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Thr148Ile Single submitter Inborn genetic diseases ⚠
- p.Tyr398Ter Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Val339Met Single submitter Inborn genetic diseases ⚠
Benign 70
- c.1128+26del Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- c.1129-90A>G Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- c.1228+21del Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- c.303+125A>C Multiple submitters
- c.-107G>A Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- c.-87G>T Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- c.-89G>T Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- c.-97T>C Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*109G>A Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*1200A>T Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*133C>G Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*1868C>G Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*2113G>A Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*2175A>C Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*2331C>G Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*2490T>C Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*262C>T Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*2670C>T Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*3234C>G Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*358T>C Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*3819A>G Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*4426T>C Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*4467A>T Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*545G>A Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Arg13Lys Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- p.His213= Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- p.His31Arg Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- p.His338= Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Ile316Val Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Pro262= Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Thr56= Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- c.1128+21_1128+26dup Single submitter
- c.1128+24_1128+25insGAAAAAAAAAAAAAAAAAAAAAAA Single submitter
- c.1128+287C>G Single submitter
- c.1128+53_1128+54dup Single submitter
- c.1128+54dup Single submitter
- c.1228+20_1228+21del Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.1228+9del Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.202+298C>T Single submitter
- c.203-273G>A Single submitter
- c.203-294C>A Single submitter
- c.303+144A>C Single submitter
- c.303+160G>A Single submitter
- c.304-109AAT[3] Single submitter
- c.304-265del Single submitter
- c.304-265dup Single submitter
- c.304-269_304-265del Single submitter
- c.42+27G>A Single submitter
- c.42+312G>C Single submitter
- c.43-156dup Single submitter
- c.43-275A>G Single submitter
- c.511-14del Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.511-164del Single submitter
- c.511-262C>T Single submitter
- c.682-339G>A Single submitter
- c.807+308G>A Single submitter
- c.807+313C>T Single submitter
- c.991-318AG[2] Single submitter
- c.-102dup Single submitter
- c.*1202G>A Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*1972C>A Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*206A>C Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*2957T>A Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*3299C>G Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*3736G>T Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*4135G>A Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*473G>C Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*497C>T Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Leu15= Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Pro242= Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
Benign/Likely benign 4
- c.1128+21_1128+26del Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- c.1128+22_1128+26del Multiple submitters
- c.1128+25_1128+26del Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- c.1128+25_1128+26dup Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
Likely benign 66
- c.1128+24_1128+26del Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- c.1229-84C>T Multiple submitters
- c.*30G>A Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*3907C>G Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Ala367= Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- c.1128+11_1128+26del Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.1128+14_1128+26del Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.1128+15_1128+26del Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.1128+20_1128+26del Single submitter
- c.1128+20_1128+26dup Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.1128+20A>G Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.1128+23_1128+26del Single submitter
- c.1128+26dup Single submitter
- c.1128+7A>G Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.1228+12T>G Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.1228+7A>G Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.42+9G>C Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.43-13A>G Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.510+13G>C Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.511-206G>T Single submitter
- c.511-6A>G Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.511-8A>G Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.682-137A>G Single submitter
- c.682-20G>A Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.807+10G>A Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.808-18G>A Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.900+7C>G Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.901-11T>G Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.990+11A>T Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*1326A>G Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*1445A>T Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*1826C>T Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*1920G>T Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*2086G>A Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*2224A>G Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*2227A>G Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*3130A>G Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*3517A>G Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*78C>T Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Ala257= Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Ala305= Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Ala359= Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Arg347= Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Arg355= Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Asn352= Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Asp328= Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Gln142= Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Gln342= Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Glu2= Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Gly112= Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Ile246Val Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Ile313= Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Leu123= Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Leu201= Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Leu253= Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Pro53= Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Ser185= Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Ser36= Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Ser87= Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Thr411= Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Tyr111= Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Val223= Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Val336= Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*2G>A No assertion criteria ACADSB-related disorder
- p.Ile386= No assertion criteria ACADSB-related disorder
- p.Tyr199= No assertion criteria ACADSB-related disorder
Uncertain significance 146
- c.1128+3A>G Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Gly182Cys Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Gly393Val Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Ile424Thr Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Lys384Ile Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Met89Val Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Pro262Leu Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Pro53Ser Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Ser368Pro Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Thr411Met Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Tyr283Cys Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Val124Leu Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Val32Asp Multiple submitters 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- c.1128+2_1128+3insTA Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.1128+2dup Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.1229-15T>G Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.202+3A>C Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.303+5A>G Single submitter
- c.42+3G>T Single submitter
- c.682-349C>A Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.682-7T>C Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.-102G>C Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.-109A>T Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.-19G>C Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.-22A>G Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.-28G>T Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.-39G>A Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*1195C>A Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*1337A>G Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*1380G>A Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*1508C>T Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*1543G>T Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*1552A>G Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*1682T>C Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*1754A>G Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*1827G>A Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*1840T>G Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*1865C>T Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*1907C>T Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*1942C>T Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*195G>A Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*1981G>A Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*2060G>A Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*2085C>T Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*2174A>G Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*2224A>C Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*2329A>G Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*2339G>A Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*2529G>A Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*2548G>T Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*2581A>C Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*263G>A Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*2686G>C Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*277A>T Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*2803T>C Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*285T>C Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*2922G>A Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*2950A>G Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*3178A>C Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*323G>A Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*3321C>T Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*3332A>T Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*3340G>C Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*3390C>A Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*3409A>T Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*3431C>G Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*3470T>C Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*3483T>G Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*3597G>A Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*3619T>C Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*3911A>G Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*3918G>A Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*3941C>A Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*3993T>A Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*4177G>A Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*4324G>T Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*498G>A Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*57G>A Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*59G>A Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*6A>G Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*808G>A Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*808G>C Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*84G>A Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*972A>G Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- c.*973A>G Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Ala181Thr Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Ala181Val Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Ala214Ser Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Ala214Thr Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Ala345Thr Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Ala354Thr Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Ala367Val Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Ala407Thr Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Ala52Thr Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Ala5Thr Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Arg13Ser Single submitter ⚠
- p.Arg405Gln Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Arg7Leu Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Asn143= Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Asn202Ser Single submitter Inborn genetic diseases ⚠
- p.Asn422Thr Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Asp59Gly Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Cys385Tyr Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Gln158Lys Single submitter ⚠
- p.Gln300His Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Gln380Glu Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Glu126Gln Single submitter ACADSB-related disorder ⚠
- p.Glu266Lys Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Gly112Arg Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Gly303Ala Single submitter ⚠
- p.Gly379Arg Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Gly390Ala Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Gly390Arg Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Gly3Ala Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Gly3Asp Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Gly410Val Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.His245Arg Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.His245Tyr Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.His338Gln Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Ile141Leu Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Ile146Phe Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Ile227Thr Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Ile320Leu Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Ile419Phe Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Ile76Ser Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Leu14= Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency
- p.Leu166Val Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Leu216Pro Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Leu23Val Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Lys27Glu Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Met1Leu Single submitter
- p.Phe265Leu Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Pro242Leu Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Pro78Thr Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Ser12Arg Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Ser87Leu Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Thr382del Single submitter
- p.Thr382Met Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Thr395Ile Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Val124Met Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Val171Gly Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Val237Ala Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Val268Ala Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Val68Phe Single submitter 2-methylbutyryl-CoA dehydrogenase deficiency ⚠
- p.Ala407Ser No assertion criteria microcephaly ⚠
- p.Met369Lys No assertion criteria 2-methylbutyryl-CoA dehydrogenase deficiency ⚠