MCCC2 — 867 ClinVar variants
All ClinVar germline MCCC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 255 flagged for review →
41 Pathogenic · 58 Pathogenic/Likely pathogenic · 94 Likely pathogenic · 39 Conflicting · 61 Benign · 6 Benign/Likely benign · 288 Likely benign · 280 Uncertain significance
Full MCCC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 255
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 9
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
MCCC2 p.Arg193His
Likely pathogenic
Multiple submitters
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Arg268Thr
Pathogenic
Multiple submitters
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Ile437Val
Pathogenic/Likely pathogenic
Multiple submitters
3-methylcrotonyl-CoA carboxylase deficiency
-
MCCC2 p.Thr556Ala
Likely pathogenic
Multiple submitters
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Thr556Asn
Likely pathogenic
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Tyr196His
Likely pathogenic
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Tyr23Cys
Likely pathogenic
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Tyr318Cys
Likely pathogenic
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Tyr520Cys
Likely pathogenic
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
Predictors agree, ClinVar conflicts 16
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
MCCC2 p.Ala160Thr
Conflicting
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Ala456Val
Conflicting
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Ala478Gly
Conflicting
Single submitter
Likely inborn error of metabolism
-
MCCC2 p.Gly220Glu
Conflicting
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Gly319Arg
Conflicting
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Gly448Arg
Conflicting
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Gly517Arg
Conflicting
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Ile553Val
Conflicting
Single submitter
Inborn genetic diseases
-
MCCC2 p.Leu541Phe
Conflicting
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Ser101Phe
Conflicting
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Ser173Trp
Conflicting
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Thr385Ala
Conflicting
Single submitter
Inborn genetic diseases
-
MCCC2 p.Thr556Ile
Conflicting
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Val211Gly
Conflicting
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Val370Ile
Conflicting
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Val481Met
Conflicting
Single submitter
3-methylcrotonyl-CoA carboxylase deficiency
Predictors lean, ClinVar uncertain 97
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
MCCC2 p.Asn205Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MCCC2 p.Asp110Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MCCC2 p.His57Arg
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Lys152Thr
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Lys555Glu
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Phe387Val
Uncertain significance
Multiple submitters
MCCC2-related disorder
-
MCCC2 p.Phe461Val
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Pro20Ser
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Tyr145Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MCCC2 p.Tyr145His
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Val272Gly
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Val540Asp
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Ala13Gly
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Ala144Ser
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Ala207Ser
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Ala283Val
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
- MCCC2 p.Ala478Pro Uncertain significance Single submitter
-
MCCC2 p.Ala51Val
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Ala524Pro
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Ala524Val
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Arg337Thr
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Arg562Lys
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Arg59Gln
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Arg84Gly
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Asn111Ser
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Asn518Ser
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
- MCCC2 p.Asp137Glu Uncertain significance Single submitter
-
MCCC2 p.Asp172Val
Uncertain significance
Single submitter
Likely inborn error of metabolism
-
MCCC2 p.Asp189Glu
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
- MCCC2 p.Asp340Val Uncertain significance Single submitter
-
MCCC2 p.Asp528Gly
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Cys391Arg
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Cys392Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC2 p.Gln153Lys
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Gln393Pro
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Glu229Asp
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Glu99Lys
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Gly122Asp
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Gly174Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC2 p.Gly243Ala
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Gly271Arg
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Gly352Val
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Gly374Arg
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Gly446Glu
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.His266Tyr
Uncertain significance
Single submitter
MCCC2-related disorder
-
MCCC2 p.His275Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC2 p.His62Arg
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.His75Arg
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Ile200Val
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Ile304Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC2 p.Ile76Leu
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Leu265Pro
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Leu284Pro
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
- MCCC2 p.Leu300Phe Uncertain significance Single submitter
-
MCCC2 p.Leu399Gln
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Leu41Arg
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Met425Ile
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Met452Ile
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
- MCCC2 p.Met473Val Uncertain significance Single submitter
-
MCCC2 p.Met49Ile
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Met563Thr
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Phe185Ser
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Phe195Leu
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Phe329Ser
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Phe387Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC2 p.Phe513Leu
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Phe558Leu
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
- MCCC2 p.Pro11Leu Uncertain significance Single submitter
-
MCCC2 p.Pro186Arg
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Pro224Arg
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Pro435Arg
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Pro534Arg
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Pro83Arg
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
- MCCC2 p.Ser342Asn Uncertain significance Single submitter
-
MCCC2 p.Ser444Tyr
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Ser522Phe
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Ser544Asn
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
- MCCC2 p.Thr149Ile Uncertain significance Single submitter
-
MCCC2 p.Thr217Ile
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Thr33Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC2 p.Thr438Asn
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Trp527Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC2 p.Tyr146Asp
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Tyr222Cys
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Val375Ala
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Val429Leu
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Ala40Ser
Uncertain significance
No assertion criteria
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Arg327Lys
Uncertain significance
No assertion criteria
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Asp340Asn
Uncertain significance
No assertion criteria
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Glu333Val
Uncertain significance
No assertion criteria
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.His24Gln
Uncertain significance
No assertion criteria
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Lys555Asn
Uncertain significance
No assertion criteria
3-methylcrotonyl-CoA carboxylase deficiency
-
MCCC2 p.Pro224Ser
Uncertain significance
No assertion criteria
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Ser328Asn
Uncertain significance
No assertion criteria
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Tyr222His
Uncertain significance
No assertion criteria
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Val129Ile
Uncertain significance
No assertion criteria
3-methylcrotonyl-CoA carboxylase deficiency
-
MCCC2 p.Val526Leu
Uncertain significance
No assertion criteria
3-methylcrotonyl-CoA carboxylase 2 deficiency
Predictors split 133
The independent predictors disagree with each other — read with care.
-
MCCC2 p.Ala249Val
Uncertain significance
Multiple submitters
MCCC2-related disorder
-
MCCC2 p.Ala428Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MCCC2 p.Ala524Thr
Pathogenic/Likely pathogenic
Multiple submitters
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Ala547Thr
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Ala551Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MCCC2 p.Arg193Cys
Pathogenic/Likely pathogenic
Multiple submitters
3-methylcrotonyl-CoA carboxylase deficiency
-
MCCC2 p.Arg234Cys
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Arg234His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MCCC2 p.Arg361Gln
Uncertain significance
Multiple submitters
MCCC2-related disorder
-
MCCC2 p.Arg469His
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Asn230Asp
Pathogenic/Likely pathogenic
Multiple submitters
3-methylcrotonyl-CoA carboxylase deficiency
-
MCCC2 p.Asn480Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MCCC2 p.Gln162Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MCCC2 p.Glu305Gly
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Glu412Ala
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Glu515Asp
Likely benign
Multiple submitters
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.His190Tyr
Pathogenic/Likely pathogenic
Multiple submitters
3-methylcrotonyl-CoA carboxylase deficiency
-
MCCC2 p.Ile119Val
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Ile206Thr
Uncertain significance
Multiple submitters
MCCC2-related disorder
-
MCCC2 p.Ile441Thr
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Lys141Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MCCC2 p.Ser39Phe Uncertain significance Multiple submitters
-
MCCC2 p.Ser498Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MCCC2 p.Tyr109Cys
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Tyr445Cys
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Tyr520Ser
Pathogenic/Likely pathogenic
Multiple submitters
3-methylcrotonyl-CoA carboxylase deficiency
-
MCCC2 p.Val339Met
Pathogenic/Likely pathogenic
Multiple submitters
Inborn genetic diseases
-
MCCC2 p.Val367Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MCCC2 p.Ala104Val
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Ala156Val
Likely pathogenic
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Ala160Gly
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Ala182Thr
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Ala210Thr
Conflicting
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Ala218Ser
Likely pathogenic
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Ala250Thr
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Ala314Thr
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Ala491Thr
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Ala504Val
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Ala547Val
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
- MCCC2 p.Ala548Thr Uncertain significance Single submitter
- MCCC2 p.Arg10Trp Uncertain significance Single submitter
-
MCCC2 p.Arg180Gln
Likely benign
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Arg21Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC2 p.Arg268Gly
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Arg332Gln
Conflicting
Single submitter
3-methylcrotonyl-CoA carboxylase deficiency
-
MCCC2 p.Arg460Gly
Conflicting
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Arg492Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC2 p.Arg492Trp
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Arg72Gly
Uncertain significance
Single submitter
MCCC2-related disorder
-
MCCC2 p.Asn295Ser
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Asn480Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC2 p.Asn480Ser
Conflicting
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Asn518Lys
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Asp187Gly
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Asp189Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC2 p.Asp259Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC2 p.Asp315Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC2 p.Asp501Asn
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Asp533Asn
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Asp557Ala
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Gln389Lys
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Gln496His
Conflicting
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Glu158Ala
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Glu333Asp
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Glu412Gly
Conflicting
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Glu502Gln
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Gly341Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC2 p.Gly94Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC2 p.His24Asp
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Ile200Asn
Conflicting
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Ile231Met
Conflicting
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Ile470Met
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Ile87Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC2 p.Leu265Val
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Leu286Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC2 p.Leu325Phe
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Leu398Val
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Lys235Glu
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Lys348Arg
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Lys512Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC2 p.Met132Ile
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Met213Val
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Met425Val
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Met49Val
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
- MCCC2 p.Pro147Leu Likely pathogenic Single submitter
- MCCC2 p.Pro244Ala Uncertain significance Single submitter
-
MCCC2 p.Pro35Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC2 p.Pro35Thr
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Pro459Ser
Conflicting
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Pro552Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC2 p.Pro93Leu
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Pro96Ala
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Ser328Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC2 p.Ser328Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC2 p.Ser499Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC2 p.Ser523Gly
Conflicting
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Ser95Phe
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Thr33Ile
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Thr385Ser
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Thr484Met
Uncertain significance
Single submitter
Inborn genetic diseases
- MCCC2 p.Trp2Cys Uncertain significance Single submitter
-
MCCC2 p.Tyr146Cys
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Tyr169Cys
Conflicting
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Tyr177Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC2 p.Tyr23Ser
Conflicting
Single submitter
Inborn genetic diseases
- MCCC2 p.Tyr351Cys Uncertain significance Single submitter
-
MCCC2 p.Tyr42Cys
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Tyr42His
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Tyr463Cys
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Tyr46Cys
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Val114Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC2 p.Val140Ile
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Val150Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC2 p.Val321Ala
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Val409Ile
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Ala199Ser
Uncertain significance
No assertion criteria
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Ala257Thr
Uncertain significance
No assertion criteria
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Arg327Gly
Uncertain significance
No assertion criteria
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Arg361Gly
Uncertain significance
No assertion criteria
MCCC2-related disorder
-
MCCC2 p.Asp488His
Uncertain significance
No assertion criteria
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Gln55His
Uncertain significance
No assertion criteria
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Glu316Asp
Uncertain significance
No assertion criteria
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Glu412Val
Uncertain significance
No assertion criteria
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Glu476Asp
Uncertain significance
No assertion criteria
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Gly128Ala
Uncertain significance
No assertion criteria
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Ile532Val
Uncertain significance
No assertion criteria
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Leu549Phe
Uncertain significance
No assertion criteria
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Met161Val
Uncertain significance
No assertion criteria
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Ser256Tyr
Uncertain significance
No assertion criteria
3-methylcrotonyl-CoA carboxylase 2 deficiency
-
MCCC2 p.Tyr109Asn
Uncertain significance
No assertion criteria
3-methylcrotonyl-CoA carboxylase 2 deficiency
- MCCC2 p.Tyr169Phe Uncertain significance No assertion criteria
-
MCCC2 p.Tyr365Phe
Uncertain significance
No assertion criteria
MCCC2-related disorder
-
MCCC2 p.Val223Leu
Uncertain significance
No assertion criteria
3-methylcrotonyl-CoA carboxylase 2 deficiency
All MCCC2 variants
Pathogenic 41
- c.1574+1G>A Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.512-1G>A Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Arg268Thr Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Gln198Ter Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Lys382_Lys383delinsPheTer Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ser173fs Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Val150fs Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Val247fs Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1150-1G>A Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1150-1G>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.282-1G>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.512-1G>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Arg394Ile Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Asn324fs Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Asn449fs Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Asp264fs Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Asp26fs Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Asp330Ter Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Asp340fs Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Gln153fs Single submitter
- p.Glu305Ter Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Glu412fs Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Glu515_Glu516insGlyProGlyAlaGlyAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleThrArgSerGlyAspXaaXaaXaaXaaLysLysLysLysLysLysLysLysPheGluGlu Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.His275fs Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Leu178fs Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Leu178Ter Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Leu246fs Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Lys298fs Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Lys436fs Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Lys436Ter Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Met1Val Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Phe377_Ser378insTer Single submitter 3-methylcrotonyl-CoA carboxylase deficiency
- p.Pro115fs Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Pro186fs Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Pro224Thr Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Thr385fs Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Trp2fs Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Tyr106Ter Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Tyr177fs Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Tyr222fs Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.His190Arg No assertion criteria 3-methylcrotonyl-CoA carboxylase 2 deficiency
Pathogenic/Likely pathogenic 58
- c.1149+1G>A Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1149+1G>T Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1216+2T>A Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.281+5G>A Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.384-2A>G Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.739-2A>G Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.739del Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ala218Thr Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ala524Thr Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Arg155Gln Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Arg155Trp Multiple submitters 3-methylcrotonyl-CoA carboxylase deficiency
- p.Arg180Ter Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Arg188Ter Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Arg193Cys Multiple submitters 3-methylcrotonyl-CoA carboxylase deficiency ⚠
- p.Arg332Ter Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Arg361Ter Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Arg59Ter Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Arg72Ter Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Asn230Asp Multiple submitters 3-methylcrotonyl-CoA carboxylase deficiency ⚠
- p.Asn230fs Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Asn395_Leu398delinsSerIleTer Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Asn403Ser Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Asn403Thr Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Asp280Tyr Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Cys167Arg Multiple submitters 3-methylcrotonyl-CoA carboxylase deficiency
- p.Gln34Ter Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Gln43Ter Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Gln48Ter Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Gln496Ter Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Glu254Ter Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Glu61Ter Multiple submitters 3-methylcrotonyl-CoA carboxylase deficiency
- p.Glu99Gln Multiple submitters 3-methylcrotonyl-CoA carboxylase deficiency
- p.Gly118del Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Gly214Ala Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Gly352Arg Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Gly368fs Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Gly475Arg Multiple submitters 3-methylcrotonyl-CoA carboxylase deficiency
- p.Gly559Asp Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Gly79fs Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.His190Tyr Multiple submitters 3-methylcrotonyl-CoA carboxylase deficiency ⚠
- p.Ile437Val Multiple submitters 3-methylcrotonyl-CoA carboxylase deficiency ⚠
- p.Ile553fs Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Leu355Phe Multiple submitters Inborn genetic diseases
- p.Leu355Ter Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Leu82fs Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Lys64Ter Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Pro310Arg Multiple submitters 3-methylcrotonyl-CoA carboxylase deficiency
- p.Pro397Ala Multiple submitters 3-methylcrotonyl-CoA carboxylase deficiency
- p.Ser127Ter Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ser173Leu Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ser471fs Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ser77Ter Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ter564Gln Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Thr194fs Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Tyr450Ter Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Tyr457Ter Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Tyr520Ser Multiple submitters 3-methylcrotonyl-CoA carboxylase deficiency ⚠
- p.Val339Met Multiple submitters Inborn genetic diseases ⚠
Likely pathogenic 94
- c.1000-2A>G Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1072+1G>A Multiple submitters 3-methylcrotonyl-CoA carboxylase deficiency
- c.1216+1G>A Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1216+2T>C Multiple submitters 3-methylcrotonyl-CoA carboxylase deficiency
- c.129+1G>T Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.130-2A>G Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1488+2T>A Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1574+1G>T Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.281+1del Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.281+1G>T Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.281+2T>C Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.383+2del Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.625-1G>A Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.903+1G>T Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ala218Val Multiple submitters 3-methylcrotonyl-CoA carboxylase deficiency
- p.Arg193His Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Gln477Arg Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ile231Phe Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Thr139Ile Multiple submitters 3-methylcrotonyl-CoA carboxylase deficiency
- p.Thr556Ala Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Val434Leu Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1073-12C>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.115_129+27del Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1150-2A>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1151del Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1216+1G>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.129+1G>A Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.129+3A>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1373+1G>A Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1373+2T>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1374-2A>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1488+1G>A Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.282-9_285del Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.511+1G>A Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.511+1G>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.511+2_511+3delinsGG Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.511+2C>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.624+1G>A Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.738+2T>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.803+1G>A Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.803+2T>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.903+2T>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.904-2A>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ala156Val Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ala182fs Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ala218Ser Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ala423Asp Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ala456Pro Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Arg460fs Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Arg460Ter Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Asn403fs Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Gln433Ter Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Gln55fs Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Glu229Ter Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Glu253fs Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Glu253Ter Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Glu333fs Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Glu514fs Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Glu85Ter Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Gly105fs Single submitter 3-methylcrotonyl-CoA carboxylase deficiency
- p.Gly237Arg Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.His24fs Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.His282fs Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ile159fs Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Leu286fs Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Leu376Pro Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Leu37Ter Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Lys326fs Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Lys383Ter Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Pro147Leu Single submitter ⚠
- p.Pro224Leu Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ser101Tyr Single submitter
- p.Ser173Ter Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ser203fs Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ser307_Glu308insTer Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ser444fs Single submitter MCCC2-related disorder
- p.Ser523Asn Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Thr139fs Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Thr484Pro Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Thr556Asn Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Trp276fs Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Trp527Ter Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Tyr109Ter Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Tyr145Ter Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Tyr146Ter Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Tyr169Asp Single submitter 3-methylcrotonyl-CoA carboxylase deficiency
- p.Tyr177Ter Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Tyr196His Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Tyr196Ter Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Tyr23Cys Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Tyr318Cys Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Tyr520Cys Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Val481Leu Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.His266Leu No assertion criteria 3-methylcrotonyl-CoA carboxylase 2 deficiency
Conflicting classifications of pathogenicity 39
- c.1217-7C>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1488+3C>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1575-5G>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.384-20A>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.738+9A>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.-38G>A Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ala160Thr Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ala210Thr Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ala456Val Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ala478Gly Single submitter Likely inborn error of metabolism ⚠
- p.Arg288= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Arg332Gln Single submitter 3-methylcrotonyl-CoA carboxylase deficiency ⚠
- p.Arg460Gly Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Asn480Ser Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Asp110= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Gln496His Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Glu412Gly Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Gly220Glu Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Gly319Arg Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Gly448Arg Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Gly517Arg Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ile200Asn Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ile231Met Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ile553Val Single submitter Inborn genetic diseases ⚠
- p.Leu541Phe Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Pro186_Asp187delinsLeuValGluValSerVal Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Pro459Ser Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ser101Phe Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ser173Trp Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ser523Gly Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ser546Ter Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Thr385Ala Single submitter Inborn genetic diseases ⚠
- p.Thr556Ile Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Tyr169Cys Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Tyr23Ser Single submitter Inborn genetic diseases ⚠
- p.Val211Gly Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Val370Ile Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Val481Met Single submitter 3-methylcrotonyl-CoA carboxylase deficiency ⚠
- c.*6A>G No assertion criteria 3-methylcrotonyl-CoA carboxylase deficiency
Benign 61
- c.1488+103G>C Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1488+113G>A Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1489-111T>G Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1574+73G>A Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1575-64A>G Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.511+7dup Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.512-114G>A Multiple submitters
- c.624+57G>T Multiple submitters
- c.738+36G>A Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.739-25C>T Multiple submitters
- c.739-91G>C Multiple submitters
- c.739-92G>A Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.803+71C>T Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.904-12A>G Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.999+190G>A Multiple submitters
- c.999+39T>G Multiple submitters
- c.-117A>G Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.*1198C>T Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.*247C>T Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.*593G>T Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Val526= Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1000-14_1000-12del Single submitter
- c.1000-187C>G Single submitter
- c.1073-209G>A Single submitter
- c.1149+137_1149+138insGTGT Single submitter
- c.1149+138_1149+139del Single submitter
- c.1149+138A>G Single submitter
- c.1149+139TG[20] Single submitter
- c.1149+139TG[21] Single submitter
- c.1149+139TG[22] Single submitter
- c.1149+139TG[24] Single submitter
- c.1149+169_1149+180del Single submitter
- c.1149+176GC[2] Single submitter
- c.1149+177C>T Single submitter
- c.1149+179_1149+182del Single submitter
- c.1149+179C>T Single submitter
- c.1150-135dup Single submitter
- c.1216+232G>A Single submitter
- c.1488+111G>T Single submitter
- c.1488+312C>T Single submitter
- c.1489-233C>T Single submitter
- c.1574+237G>A Single submitter
- c.1574+7dup Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1575-15_1575-14del Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.196+98_196+99insA Single submitter
- c.197-192dup Single submitter
- c.197-75_197-69del Single submitter
- c.282-334G>A Single submitter
- c.624+128del Single submitter
- c.624+128dup Single submitter
- c.625-245C>T Single submitter
- c.625-339C>T Single submitter
- c.739-262C>T Single submitter
- c.803+239T>C Single submitter
- c.804-261T>C Single submitter
- c.-303C>G Single submitter
- c.-336A>T Single submitter
- c.*1381A>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.*1466T>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.*1573C>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Val150= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
Benign/Likely benign 6
- c.1373+18C>T Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1574+37C>G Multiple submitters
- c.282-7G>A Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.738+132C>T Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ala323= Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ser523= Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
Likely benign 288
- c.1150-17_1150-16del Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1216+163A>G Multiple submitters
- c.130-79T>C Multiple submitters
- c.1374-19C>A Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1488+10G>A Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.384-43A>G Multiple submitters
- c.384-80T>C Multiple submitters
- c.625-17G>A Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.999+105A>G Multiple submitters
- c.*245T>C Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ala427= Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ala456= Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ala503= Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Glu507= Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Glu515Asp Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Glu61= Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Leu376= Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Phe558= Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Pro93= Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Thr139= Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1000-151T>C Single submitter
- c.1000-17G>A Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1000-237T>G Single submitter
- c.1000-299G>A Single submitter
- c.1072+12A>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1072+14G>A Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1072+17T>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1072+57A>G Single submitter
- c.1072+9G>A Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1073-18T>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1073-230A>G Single submitter
- c.1149+137_1149+138insGT Single submitter
- c.1149+139TG[23] Single submitter
- c.1149+167_1149+180del Single submitter
- c.1149+173_1149+178del Single submitter
- c.1149+175_1149+178del Single submitter
- c.1150-105G>T Single submitter
- c.1150-17A>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1150-4A>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1150-76T>G Single submitter
- c.1216+10T>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1216+12G>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1216+19C>A Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1216+19del Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1216+7A>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1216+8A>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1217-10T>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1217-16C>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1217-16C>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1217-17T>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1217-19T>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1217-20C>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1217-6_1217-3del Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.129+10G>A Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.129+146A>G Single submitter
- c.129+16C>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.129+17G>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.129+7T>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.129+8G>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.130-16T>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.130-19T>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.130-20C>A Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.130-72del Single submitter
- c.1373+10A>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1373+16T>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1373+27A>G Single submitter
- c.1374-10C>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1374-15C>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1488+10del Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1488+11T>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1488+15C>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1488+18T>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1488+8T>A Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1488+9C>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1488+9C>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1489-10T>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1489-16G>A Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1489-17G>A Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1489-4T>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1489-5T>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1574+15A>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1574+6G>C Single submitter
- c.1574+7G>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1575-10C>A Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1575-10C>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1575-15T>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.196+100T>A Single submitter
- c.196+113del Single submitter
- c.196+113dup Single submitter
- c.196+11C>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.196+18_196+19insATTAAGTAA Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.196+19C>A Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.196+20C>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.196+9A>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.197-7A>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.197-9C>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.281+10T>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.281+11A>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.281+14C>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.282-15C>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.282-8C>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.282-9T>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.383+17T>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.384-10T>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.384-8C>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.384-9G>A Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.511+10del Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.511+11A>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.511+13A>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.511+14G>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.511+204A>G Single submitter
- c.511+20A>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.512-14T>A Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.512-19T>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.624+10C>A Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.624+13G>A Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.624+13G>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.624+15A>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.624+15A>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.625-15G>A Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.625-18C>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.625-19T>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.738+11A>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.738+16C>A Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.738+16C>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.738+17G>A Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.738+8C>A Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.739-11C>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.739-11C>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.739-201C>T Single submitter
- c.739-4G>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.739-7G>A Single submitter
- c.739-7G>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.739-7G>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.739-8T>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.739-9T>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.803+12A>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.803+13T>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.803+14G>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.803+7C>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.803+9_803+10del Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.804-10T>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.804-4G>A Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.903+11T>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.903+13T>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.903+19T>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.903+20A>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.903+8C>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.903+9G>A Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.904-10A>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.904-15T>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.904-16A>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.904-19A>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.904-4G>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.999+16A>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.999+854T>A Single submitter
- c.999+8A>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.-20C>G Single submitter
- c.*1080G>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.*1351G>A Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.*577T>A Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.*970G>A Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ala15= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ala156= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ala176= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ala18= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ala210= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ala221= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ala242= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ala249= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ala3= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ala336= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ala423= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ala428= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ala430= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ala447= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ala479= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ala483= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ala500= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ala524= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ala73= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Arg180= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Arg180Gln Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Arg292= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Arg490= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Arg492= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Arg59= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Arg84= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Asn163= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Asn230= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Asn293= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Asn373= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Asn54= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Asn550= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Asp183= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Asp189= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Asp26= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Asp274= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Asp315= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Asp88= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Cys391= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Gln107= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Gln236= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Gln393= Single submitter
- p.Glu112= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Glu316= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Glu379= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Glu414= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Glu515= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Glu516= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Gly118= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Gly19= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Gly219= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Gly237= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Gly243= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Gly262= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Gly32= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Gly322= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Gly352= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Gly374= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Gly38= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Gly446= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Gly448= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Gly542= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Gly79= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.His24= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.His266= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ile159= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ile168= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ile206= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ile209= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ile320= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ile338= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ile369= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ile470= Single submitter
- p.Leu108= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Leu246= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Leu265= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Leu294= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Leu300= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Leu399= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Leu401= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Leu41= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Leu5= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Leu52= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Leu543= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Leu549= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Leu82= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Leu9= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Leu90= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Lys141= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Lys152= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Lys70= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Phe240= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Phe329= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Phe400= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Pro17= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Pro179= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Pro20= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Pro224= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Pro35= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Pro508= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Pro534= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ser173= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ser30= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ser39= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ser444= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ser498= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ser546= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Thr217= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Thr238= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Thr251= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Thr287= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Thr405= Single submitter
- p.Thr484= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Thr486= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Thr556= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Tyr145= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Tyr177= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Tyr296= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Tyr365= Single submitter
- p.Tyr520= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Val114= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Val184= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Val233= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Val255= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Val339= Single submitter
- p.Phe377= No assertion criteria MCCC2-related disorder
Uncertain significance 280
- c.1574+5G>T Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.384-19T>A Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.903+4A>T Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.*1243G>C Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ala249Val Multiple submitters MCCC2-related disorder ⚠
- p.Ala428Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala547Thr Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ala551Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg234Cys Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Arg234His Multiple submitters Inborn genetic diseases ⚠
- p.Arg361Gln Multiple submitters MCCC2-related disorder ⚠
- p.Arg469His Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Asn205Lys Multiple submitters Inborn genetic diseases ⚠
- p.Asn480Asp Multiple submitters Inborn genetic diseases ⚠
- p.Asp110Asn Multiple submitters Inborn genetic diseases ⚠
- p.Gln162Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu305Gly Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Glu412Ala Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.His57Arg Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ile119Val Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ile206Thr Multiple submitters MCCC2-related disorder ⚠
- p.Ile441Thr Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Lys141Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys152Thr Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Lys555Glu Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Phe387Val Multiple submitters MCCC2-related disorder ⚠
- p.Phe461Val Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Pro20Ser Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ser39Phe Multiple submitters ⚠
- p.Ser498Phe Multiple submitters Inborn genetic diseases ⚠
- p.Tyr109Cys Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Tyr145Asp Multiple submitters Inborn genetic diseases ⚠
- p.Tyr145His Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Tyr445Cys Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Val272Gly Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Val367Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val540Asp Multiple submitters 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- c.1073-27T>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1073-9T>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1149+5G>A Single submitter
- c.1488+4G>A Single submitter
- c.1489-3T>A Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1574+3G>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.1574+5G>A Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.196+3A>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.281+4C>T Single submitter Inborn genetic diseases
- c.383+4A>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.625-11T>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.738+2dup Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.738+6A>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.803+4A>G Single submitter Inborn genetic diseases
- c.803+6A>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.904-5T>A Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.*1144A>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.*1272A>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.*1297G>A Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.*1354C>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.*1539G>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.*1591A>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.*1649C>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.*1650G>A Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.*16T>A Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.*191A>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.*246A>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.*260T>A Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.*368T>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.*378T>A Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.*526C>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.*548C>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.*552C>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.*565C>A Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.*659C>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.*699T>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.*700G>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.*714G>A Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.*719A>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.*725C>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.*773C>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.*819G>A Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.*839T>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.*843A>C Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.*856C>T Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.*878T>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.*940C>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.*941A>G Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ala104Val Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ala13Gly Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ala144Ser Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ala160Gly Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ala182Thr Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ala207Ser Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ala225= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ala250Thr Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ala283Val Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ala314Thr Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ala478Pro Single submitter ⚠
- p.Ala491Thr Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ala504Val Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ala51Val Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ala524Pro Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ala524Val Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ala547Val Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ala548Thr Single submitter ⚠
- p.Arg10Trp Single submitter ⚠
- p.Arg21Cys Single submitter Inborn genetic diseases ⚠
- p.Arg268Gly Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Arg337Thr Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Arg492Gln Single submitter Inborn genetic diseases ⚠
- p.Arg492Trp Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Arg562Lys Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Arg59Gln Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Arg72Gly Single submitter MCCC2-related disorder ⚠
- p.Arg84Gly Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Asn111Ser Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Asn295Ser Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Asn480Lys Single submitter Inborn genetic diseases ⚠
- p.Asn518Lys Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Asn518Ser Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Asp137Glu Single submitter ⚠
- p.Asp172Val Single submitter Likely inborn error of metabolism ⚠
- p.Asp187Gly Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Asp189Glu Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Asp189Gly Single submitter Inborn genetic diseases ⚠
- p.Asp259Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp315Gly Single submitter Inborn genetic diseases ⚠
- p.Asp340Val Single submitter ⚠
- p.Asp501Asn Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Asp528Gly Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Asp533Asn Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Asp557Ala Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Cys391Arg Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Cys392Tyr Single submitter Inborn genetic diseases ⚠
- p.Gln153Lys Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Gln389Lys Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Gln393Pro Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Gln402= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Gln43= Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Glu113del Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Glu158Ala Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Glu229Asp Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Glu333Asp Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Glu502Gln Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Glu99Lys Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Gly122Asp Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Gly174Glu Single submitter Inborn genetic diseases ⚠
- p.Gly243Ala Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Gly271Arg Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Gly341Arg Single submitter Inborn genetic diseases ⚠
- p.Gly352Val Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Gly374Arg Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Gly446Glu Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Gly94Val Single submitter Inborn genetic diseases ⚠
- p.His24Asp Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.His266Tyr Single submitter MCCC2-related disorder ⚠
- p.His275Gln Single submitter Inborn genetic diseases ⚠
- p.His62Arg Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.His75Arg Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ile200Val Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ile304Thr Single submitter Inborn genetic diseases ⚠
- p.Ile470Met Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ile531Phe Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ile76Leu Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ile87Thr Single submitter Inborn genetic diseases ⚠
- p.Leu265Pro Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Leu265Val Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Leu284Pro Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Leu286Phe Single submitter Inborn genetic diseases ⚠
- p.Leu300Phe Single submitter ⚠
- p.Leu325Phe Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Leu398Val Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Leu399Gln Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Leu41Arg Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Lys235Glu Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Lys348Arg Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Lys512Asn Single submitter Inborn genetic diseases ⚠
- p.Met132Ile Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Met213Val Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Met425Ile Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Met425Val Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Met452Ile Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Met473Val Single submitter ⚠
- p.Met49Ile Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Met49Val Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Met563Thr Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Phe185Ser Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Phe195Leu Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Phe329Ser Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Phe387Cys Single submitter Inborn genetic diseases ⚠
- p.Phe513Leu Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Phe558fs Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Phe558Leu Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Pro11Leu Single submitter ⚠
- p.Pro186Arg Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Pro224Arg Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Pro244Ala Single submitter ⚠
- p.Pro35Leu Single submitter Inborn genetic diseases ⚠
- p.Pro35Thr Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Pro435Arg Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Pro534Arg Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Pro552Thr Single submitter Inborn genetic diseases ⚠
- p.Pro83Arg Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Pro93Leu Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Pro96Ala Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ser328Arg Single submitter Inborn genetic diseases ⚠
- p.Ser328Gly Single submitter Inborn genetic diseases ⚠
- p.Ser342Asn Single submitter ⚠
- p.Ser444Tyr Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ser499Arg Single submitter Inborn genetic diseases ⚠
- p.Ser522Phe Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ser544Asn Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ser95Phe Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Thr149Ile Single submitter ⚠
- p.Thr217Ile Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Thr33Ala Single submitter Inborn genetic diseases ⚠
- p.Thr33Ile Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Thr385Ser Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Thr438Asn Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Thr484Met Single submitter Inborn genetic diseases ⚠
- p.Trp2Cys Single submitter ⚠
- p.Trp527Arg Single submitter Inborn genetic diseases ⚠
- p.Tyr146Asp Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Tyr146Cys Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Tyr177Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr222Cys Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Tyr351Cys Single submitter ⚠
- p.Tyr42Cys Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Tyr42His Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Tyr463Cys Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Tyr46Cys Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Val114Met Single submitter Inborn genetic diseases ⚠
- p.Val140Ile Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Val150Met Single submitter Inborn genetic diseases ⚠
- p.Val321Ala Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Val375Ala Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Val409Ile Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Val429Leu Single submitter 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- c.281+3G>A No assertion criteria 3-methylcrotonyl-CoA carboxylase 2 deficiency
- c.281+5G>T No assertion criteria 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Ala199Ser No assertion criteria 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ala257Thr No assertion criteria 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ala40Ser No assertion criteria 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ala551= No assertion criteria 3-methylcrotonyl-CoA carboxylase deficiency
- p.Arg327= No assertion criteria 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Arg327Gly No assertion criteria 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Arg327Lys No assertion criteria 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Arg361Gly No assertion criteria MCCC2-related disorder ⚠
- p.Arg460= No assertion criteria 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Arg86= No assertion criteria 3-methylcrotonyl-CoA carboxylase deficiency
- p.Asn480= No assertion criteria 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Asp330= No assertion criteria 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Asp340Asn No assertion criteria 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Asp488His No assertion criteria 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Gln153= No assertion criteria 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Gln48= No assertion criteria 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Gln55His No assertion criteria 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Glu316Asp No assertion criteria 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Glu333Val No assertion criteria 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Glu412Val No assertion criteria 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Glu476Asp No assertion criteria 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Gly128Ala No assertion criteria 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Gly143= No assertion criteria 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.His24Gln No assertion criteria 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ile532Val No assertion criteria 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Leu549Phe No assertion criteria 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Lys555Asn No assertion criteria 3-methylcrotonyl-CoA carboxylase deficiency ⚠
- p.Met161Val No assertion criteria 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Pro224Ser No assertion criteria 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ser256Tyr No assertion criteria 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Ser328Asn No assertion criteria 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Thr194= No assertion criteria 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Tyr109Asn No assertion criteria 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Tyr146= No assertion criteria 3-methylcrotonyl-CoA carboxylase deficiency
- p.Tyr169= No assertion criteria 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Tyr169Phe No assertion criteria ⚠
- p.Tyr222His No assertion criteria 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Tyr365Phe No assertion criteria MCCC2-related disorder ⚠
- p.Val129Ile No assertion criteria 3-methylcrotonyl-CoA carboxylase deficiency ⚠
- p.Val223Leu No assertion criteria 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠
- p.Val4= No assertion criteria 3-methylcrotonyl-CoA carboxylase 2 deficiency
- p.Val526Leu No assertion criteria 3-methylcrotonyl-CoA carboxylase 2 deficiency ⚠