MCCC1 — 938 ClinVar variants
All ClinVar germline MCCC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 295 flagged for review →
67 Pathogenic · 49 Pathogenic/Likely pathogenic · 81 Likely pathogenic · 38 Conflicting · 48 Benign · 9 Benign/Likely benign · 332 Likely benign · 314 Uncertain significance
Full MCCC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 295
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 8
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
MCCC1 p.Arg421Trp
Pathogenic/Likely pathogenic
Multiple submitters
MCCC1-related disorder
-
MCCC1 p.Arg444His
Pathogenic/Likely pathogenic
Multiple submitters
3-methylcrotonyl-CoA carboxylase deficiency
-
MCCC1 p.Arg66Cys
Likely pathogenic
Multiple submitters
3-methylcrotonyl-CoA carboxylase deficiency
-
MCCC1 p.Ile434Met
Pathogenic/Likely pathogenic
Multiple submitters
3-methylcrotonyl-CoA carboxylase deficiency
-
MCCC1 p.Ala435Thr
Pathogenic
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Glu366Lys
Likely pathogenic
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Tyr430Cys
Likely pathogenic
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Ile460Met
Pathogenic
No assertion criteria
3-methylcrotonyl-CoA carboxylase 1 deficiency
Predictors agree, ClinVar conflicts 16
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
MCCC1 p.Ala291Val
Conflicting
Single submitter
3-methylcrotonyl-CoA carboxylase deficiency
-
MCCC1 p.Ala446Val
Conflicting
Single submitter
Inborn genetic diseases
-
MCCC1 p.Ala44Val
Conflicting
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Ala670Val
Conflicting
Single submitter
Inborn genetic diseases
-
MCCC1 p.Arg444Cys
Conflicting
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
- MCCC1 p.Asn56Lys Conflicting Single submitter
-
MCCC1 p.Asn85Thr
Conflicting
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Cys129Tyr
Conflicting
Single submitter
Inborn genetic diseases
-
MCCC1 p.Glu179Lys
Conflicting
Single submitter
Inborn genetic diseases
-
MCCC1 p.Gly46Glu
Conflicting
Single submitter
Inborn genetic diseases
-
MCCC1 p.Gly648Ser
Conflicting
Single submitter
Inborn genetic diseases
-
MCCC1 p.His570Arg
Conflicting
Single submitter
Inborn genetic diseases
-
MCCC1 p.Ser120Phe
Conflicting
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Ser724Leu
Conflicting
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Val439Leu
Conflicting
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Val439Met
Conflicting
Single submitter
MCCC1-related disorder
Predictors lean, ClinVar uncertain 187
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 187
-
MCCC1 p.Ala117Asp
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Ala44Ser
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Ala521Thr
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Ala530Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MCCC1 p.Arg409Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MCCC1 p.Arg47Gly
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Asn603Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MCCC1 p.Asp594Glu
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Glu383Lys
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Gly130Val
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Gly199Val
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Gly209Asp
Uncertain significance
Multiple submitters
MCCC1-related disorder
-
MCCC1 p.Gly212Ala
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Gly214Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MCCC1 p.Gly462Val
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.His255Asn
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.His265Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MCCC1 p.Ile125Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MCCC1 p.Ile467Phe
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Leu473Val
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Lys300Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MCCC1 p.Met522Thr
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Met682Arg
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Met682Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MCCC1 p.Pro28Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MCCC1 p.Pro632Ser
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Ser187Pro
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Ser24Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MCCC1 p.Ser406Pro
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Ser548Leu
Uncertain significance
Multiple submitters
MCCC1-related disorder
-
MCCC1 p.Ser601Phe
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Ser80Asn
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Thr567Met
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Tyr549His
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Tyr590His
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Tyr96His
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Val207Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MCCC1 p.Val428Met
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Ala121Val
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Ala122Val
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Ala268Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC1 p.Ala291Glu
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Ala310Pro
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Ala410Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC1 p.Ala435Val
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Ala442Ser
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Ala503Glu
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Ala6Val
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Ala77Val
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Arg254Ser
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Arg339Met
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Arg409Gly
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Arg421Gln
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Arg456Cys
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Arg456His
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Arg544Gly
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Arg57Lys
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Arg63Lys
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Arg700Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC1 p.Asn314Lys
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
- MCCC1 p.Asn337Ser Uncertain significance Single submitter
-
MCCC1 p.Asn561Ser
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Asp185Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC1 p.Asp354Glu
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Asp411Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC1 p.Asp532Gly
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Asp594Asn
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Asp83His
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Cys276Gly
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Cys595Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC1 p.Gln104Lys
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
- MCCC1 p.Gln259Leu Uncertain significance Single submitter
-
MCCC1 p.Gln445Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC1 p.Gln577Arg
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Gln643Arg
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Glu134Gly
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Glu15Lys
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Glu234Lys
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Glu247Lys
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Glu287Gly
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
- MCCC1 p.Glu322Val Uncertain significance Single submitter
-
MCCC1 p.Glu383Asp
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Glu425Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC1 p.Glu425Lys
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Glu506Ala
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Glu592Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC1 p.Glu615Gln
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Glu683Lys
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Gly151Asp
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
- MCCC1 p.Gly210Ala Uncertain significance Single submitter
-
MCCC1 p.Gly317Val
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Gly319Arg
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Gly319Glu
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Gly379Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC1 p.Gly482Arg
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Gly99Arg
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.His20Arg
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.His329Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC1 p.His329Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC1 p.His380Gln
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.His380Leu
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
- MCCC1 p.His380Pro Uncertain significance Single submitter
-
MCCC1 p.His485Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC1 p.His492Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC1 p.His492Tyr
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.His531Arg
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.His88Arg
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Ile246Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC1 p.Ile294Val
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Ile350Val
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Ile375Val
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Ile54Thr
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Ile618Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC1 p.Ile629Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC1 p.Ile686Val
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Leu132Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC1 p.Leu473Pro
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Leu528Phe
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Leu637Val
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Lys163Gln
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Lys301Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC1 p.Lys328Asn
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Lys436Glu
Uncertain significance
Single submitter
MCCC1-related disorder
-
MCCC1 p.Lys494Ile
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Lys505Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC1 p.Lys51Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC1 p.Lys70Glu
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Met110Val
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Met160Ile
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Met203Thr
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Met244Val
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Met334Lys
Uncertain significance
Single submitter
MCCC1-related disorder
-
MCCC1 p.Met396Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC1 p.Met39Ile
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Met553Val
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Met675Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC1 p.Met677Arg
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Met87Arg
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Pro152Ser
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Pro201Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC1 p.Pro23Leu
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Pro28Leu
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Pro397Ser
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Pro408Leu
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Pro408Ser
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Pro490Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC1 p.Ser166Phe
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
- MCCC1 p.Ser24Arg Uncertain significance Single submitter
-
MCCC1 p.Ser277Asn
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Ser277Gly
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
Predictors split 84
The independent predictors disagree with each other — read with care.
-
MCCC1 p.Ala101Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MCCC1 p.Ala101Val
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Ala447Ser
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Arg208Gln
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Arg281Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MCCC1 p.Asn267Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MCCC1 p.Asn569Tyr
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Asp672Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MCCC1 p.Gly293Ser
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Gly317Ala
Uncertain significance
Multiple submitters
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Gly572Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MCCC1 p.Gly665Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MCCC1 p.Lys143Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MCCC1 p.Tyr568Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MCCC1 p.Ala117Val
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Ala139Thr
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Ala195Thr
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Ala306Ser
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Ala309Thr
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Ala447Thr
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Ala82Gly
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Ala95Thr
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Arg208Trp
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Arg216Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC1 p.Arg232Gln
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Arg232Trp
Conflicting
Single submitter
MCCC1-related disorder
-
MCCC1 p.Arg544Ser
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Arg66His
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
- MCCC1 p.Asn466Ser Uncertain significance Single submitter
-
MCCC1 p.Asp275Glu
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Asp424Asn
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Asp571Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC1 p.Asp571Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC1 p.Asp571Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC1 p.Asp691His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC1 p.Gln105Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- MCCC1 p.Gln105His Uncertain significance Single submitter
-
MCCC1 p.Gln372Pro
Conflicting
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Gln577Leu
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Glu229Gly
Benign
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Glu366Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC1 p.Glu94Lys
Conflicting
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Gly130Ser
Conflicting
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Gly146Ala
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Gly262Ser
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Gly702Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC1 p.Gly72Ala
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Gly99Ser
Conflicting
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.His182Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC1 p.His265Arg
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.His429Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC1 p.His476Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC1 p.His684Arg
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.His88Tyr
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Ile114Met
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Ile217Phe
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
- MCCC1 p.Ile286Thr Uncertain significance Single submitter
-
MCCC1 p.Ile657Thr
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Leu455Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCCC1 p.Leu598Met
Conflicting
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Lys237Asn
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Lys69Glu
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Met334Val
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Met680Val
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Met91Thr
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Pro253Leu
Conflicting
Single submitter
Inborn genetic diseases
-
MCCC1 p.Ser164Asn
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Ser168Tyr
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Thr338Ala
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Thr75Ala
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Tyr270Cys
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Tyr387Cys
Likely benign
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
- MCCC1 p.Tyr458Cys Uncertain significance Single submitter
-
MCCC1 p.Tyr574Cys
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Val177Ala
Conflicting
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Val356Ala
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Val403Gly
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Val420Ala
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Val484Leu
Uncertain significance
Single submitter
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Ala318Thr
Uncertain significance
No assertion criteria
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Ala55Thr
Uncertain significance
No assertion criteria
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Asp242Tyr
Uncertain significance
No assertion criteria
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.Asp532His
Pathogenic
No assertion criteria
3-methylcrotonyl-CoA carboxylase 1 deficiency
-
MCCC1 p.His492Arg
Uncertain significance
No assertion criteria
3-methylcrotonyl-CoA carboxylase deficiency
All MCCC1 variants
Pathogenic 67
- c.1268-1G>A Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1268-2A>G Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.639+2T>A Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.640_641delGG Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Arg409Ter Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Cys509fs Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Cys509Ter Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gln225Ter Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gln372Ter Multiple submitters 3-methylcrotonyl-CoA carboxylase deficiency
- p.Gln584Ter Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Glu644Ter Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ser327Ter Multiple submitters 3-methylcrotonyl-CoA carboxylase deficiency
- p.Tyr315Ter Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Tyr597Ter Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Val398fs Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1869+2T>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.761+2T>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.762-2_762-1del Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.762-2A>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ala235fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ala243fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ala318fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ala435Thr Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Arg551Ter Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Arg84fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Asn17fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Asp275_Cys276insTer Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Asp672fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Cys142fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gln115Ter Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gln186fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gln378Ter Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gln422Ter Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gln445Ter Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gln646fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gln74fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gln74Ter Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Glu134Lys Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Glu247_Lys248delinsIleAlaTer Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Glu335Ter Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Glu628Ter Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gly419fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gly593Ter Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.His329fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.His380fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.His404fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ile294fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ile618fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Leu132fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Leu228fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Lys205fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Lys301fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Lys559Ter Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Lys69Ter Single submitter
- p.Met91fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Phe149_Ile150insTer Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Pro253fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ser220fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ser607fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Tyr41Ter Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Tyr574Ter Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Val178fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Val269fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Val321fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Val697fs Single submitter
- p.Asp532His No assertion criteria 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ile460Met No assertion criteria 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
Pathogenic/Likely pathogenic 49
- c.137-2A>G Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1378-2A>G Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1681+2T>C Multiple submitters MCCC1-related disorder
- c.1731+1del Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1973_1977+28del Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.639+5G>T Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.640-1G>A Multiple submitters MCCC1-related disorder
- c.640-2A>G Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ala291fs Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Arg208fs Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Arg281Ter Multiple submitters MCCC1-related disorder
- p.Arg385Ser Multiple submitters MCCC1-related disorder
- p.Arg421Trp Multiple submitters MCCC1-related disorder ⚠
- p.Arg444His Multiple submitters 3-methylcrotonyl-CoA carboxylase deficiency ⚠
- p.Arg544fs Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Asn560fs Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Cys129Ter Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gln104Ter Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gln105Ter Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gln422fs Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gln495Ter Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Glu179Ter Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Glu226Ter Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Glu229fs Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Glu288Gly Multiple submitters 3-methylcrotonyl-CoA carboxylase deficiency
- p.Glu506fs Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gly146fs Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gly180Val Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gly212fs Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gly58fs Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ile434Met Multiple submitters 3-methylcrotonyl-CoA carboxylase deficiency ⚠
- p.Leu377fs Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Leu402Ter Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Leu455fs Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Leu508fs Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Leu515fs Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Lys556fs Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Lys635fs Multiple submitters MCCC1-related disorder
- p.Met325Arg Multiple submitters MCCC1-related disorder
- p.Ser622fs Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Thr376fs Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Thr693_Val694insTer Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Trp358fs Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Trp358Ter Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Tyr597_Leu598insTer Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Tyr636Ter Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Tyr96Ter Multiple submitters 3-methylcrotonyl-CoA carboxylase deficiency
- p.Val420fs Multiple submitters MCCC1-related disorder
- p.Val76fs Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
Likely pathogenic 81
- c.1594+1G>A Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1595-1G>C Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1682-1G>A Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1732-1G>T Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1869+1G>A Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1870-2A>G Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.273+1G>C Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.761+1G>A Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.89+1G>C Multiple submitters MCCC1-related disorder
- c.89+2_89+4del Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.90-1G>C Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.955+1G>A Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ala289Val Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Arg66Cys Multiple submitters 3-methylcrotonyl-CoA carboxylase deficiency ⚠
- p.Glu234fs Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Glu94delinsArgTer Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gly183fs Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Lys284del Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Met1Val Multiple submitters MCCC1-related disorder
- p.Thr465Ile Multiple submitters 3-methylcrotonyl-CoA carboxylase deficiency
- c.1084-1G>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1084-1G>T Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1084-2A>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1377+2T>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1378-1G>T Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1595-2A>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1681+5G>A Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1731+1G>A Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1732-2A>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1732-2del Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.2050-2A>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.369+1G>A Single submitter
- c.369+2T>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.491+1G>A Single submitter MCCC1-related disorder
- c.639+5G>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.873+1G>A Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.873+1G>T Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.874-1G>T Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.89+1G>A Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.90-1G>A Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.955+1G>T Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ala101fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ala312Pro Single submitter Inborn genetic diseases
- p.Arg385Gly Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Asp275fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Asp557fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Cys190Ter Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Cys276Arg Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gln123Ter Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gln222Ter Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gln372fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gln529Ter Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gln577Ter Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gln584fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Glu223fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Glu288del Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Glu366Lys Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Glu59Gly Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gly128Ter Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gly625Ter Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.His88fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ile114fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Leu437Pro Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Leu455Phe Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Leu71fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Lys494fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Lys520Ter Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Lys667fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Pro152Leu Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Pro536fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Pro649fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ser238_Phe239insTer Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ser535Phe Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Tyr107Ter Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Tyr181Ter Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Tyr430Cys Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Tyr574_Ser575delinsTer Single submitter MCCC1-related disorder
- p.Val426Ala Single submitter
- p.Val566_Thr567insTer Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Val633fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Val64fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
Conflicting classifications of pathogenicity 38
- c.1681+2dup Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1682-3A>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1731+6C>A Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.492-4A>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.639+13A>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.*1A>T Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ala291Val Single submitter 3-methylcrotonyl-CoA carboxylase deficiency ⚠
- p.Ala3= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ala446Val Single submitter Inborn genetic diseases ⚠
- p.Ala44Val Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ala670Val Single submitter Inborn genetic diseases ⚠
- p.Ala679Thr Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ala77= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Arg232Trp Single submitter MCCC1-related disorder ⚠
- p.Arg444Cys Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Asn48= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Asn56Lys Single submitter ⚠
- p.Asn85Thr Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Cys129Tyr Single submitter Inborn genetic diseases ⚠
- p.Gln372Pro Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Glu179Lys Single submitter Inborn genetic diseases ⚠
- p.Glu94Lys Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Gly130Ser Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Gly46Glu Single submitter Inborn genetic diseases ⚠
- p.Gly648Ser Single submitter Inborn genetic diseases ⚠
- p.Gly99Ser Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.His570Arg Single submitter Inborn genetic diseases ⚠
- p.His708fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Leu598Met Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Pro253Leu Single submitter Inborn genetic diseases ⚠
- p.Ser120Phe Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ser427= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ser724Leu Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Tyr574= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Val177Ala Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Val256= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Val439Leu Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Val439Met Single submitter MCCC1-related disorder ⚠
Benign 48
- c.1268-161C>T Multiple submitters
- c.1594+39T>C Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1595-100T>C Multiple submitters
- c.1681+77C>T Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1977+94T>G Multiple submitters
- c.1978-186G>A Multiple submitters
- c.1978-194C>A Multiple submitters
- c.1978-287T>A Multiple submitters
- c.1978-57G>T Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1978-86A>C Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.273+53A>C Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.369+96C>T Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.492-126G>A Multiple submitters
- c.89+42G>A Multiple submitters
- c.-25C>A Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Glu717Lys Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1083+185G>A Single submitter
- c.1083+304dup Single submitter
- c.1084-217G>A Single submitter
- c.1267+258G>A Single submitter
- c.1268-19C>T Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1268-255A>G Single submitter
- c.1378-17del Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1595-102T>C Single submitter
- c.1595-178G>A Single submitter
- c.1682-17dup Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1682-246_1682-242del Single submitter
- c.1731+276G>T Single submitter
- c.1732-13del Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1732-208T>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1732-4dup Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1869+255A>G Single submitter
- c.1870-134T>C Single submitter
- c.1870-262C>T Single submitter
- c.2050-193A>G Single submitter
- c.273+32C>T Single submitter
- c.370-255G>T Single submitter
- c.491+188A>T Single submitter
- c.492-222A>G Single submitter
- c.761+265del Single submitter
- c.762-182A>T Single submitter
- c.762-187G>A Single submitter
- c.873+337G>A Single submitter
- c.874-239A>G Single submitter
- c.956-10dup Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.956-252C>T Single submitter
- c.956-324G>T Single submitter
- p.Glu229Gly Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
Benign/Likely benign 9
- c.1083+15dup Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.874-6del Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.874-6dup Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Arg500Gln Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Asp242= Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.His464Pro Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Leu132= Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ser591Asn Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Tyr315= Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
Likely benign 332
Showing the top 300 by review status; the full set is in the sitemap.
- c.1268-89G>A Multiple submitters
- c.1268-90C>T Multiple submitters
- c.136+7A>G Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1595-96C>T Multiple submitters
- c.1682-75G>T Multiple submitters
- c.1732-9T>A Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.2049+31G>A Multiple submitters
- c.492-92T>A Multiple submitters
- c.874-95A>G Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ala446= Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ala447= Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ala609= Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ala670= Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Arg208= Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gln341= Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gly146= Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ile678= Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ile98= Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Leu470= Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Lys695= Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Val633= Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Val89= Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1083+10T>A Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1083+16C>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1083+208C>G Single submitter
- c.1083+320del Single submitter
- c.1083+9A>T Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1084-13A>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1084-6T>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1084-8A>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1267+15A>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1267+9A>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1268-18C>T Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1268-18del Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1268-19C>A Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1268-20A>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1268-6T>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.136+18T>A Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.136+18T>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.136+19G>T Single submitter
- c.136+8C>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.136+9A>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.137-15T>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.137-18dup Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.137-7T>A Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1377+16C>A Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1377+17C>T Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1377+18G>A Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1378-17G>A Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1378-17G>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1594+10G>T Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1594+127G>T Single submitter
- c.1594+12T>A Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1594+12T>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1594+9G>A Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1595-111A>G Single submitter
- c.1595-180A>G Single submitter
- c.1595-181T>C Single submitter
- c.1681+10G>A Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1681+13T>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1681+18A>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1681+7A>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1681+92_1681+100dup Single submitter
- c.1681+9T>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1682-12T>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1682-16C>T Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1682-6A>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1731+7C>T Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1732-18A>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1732-4T>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1869+7T>A Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1869+9T>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1870-18_1870-16dup Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1870-18T>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1870-20A>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1977+13C>T Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1977+7A>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1977+9A>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1977+9A>T Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1978-8del Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.2049+10T>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.2049+15A>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.2049+237T>C Single submitter
- c.2049+9A>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.2050-15C>T Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.2050-17G>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.2050-18_2050-16del Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.2050-19C>T Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.2050-20C>T Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.2050-6_2050-5del Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.273+15T>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.273+270C>T Single submitter
- c.273+69A>G Single submitter
- c.274-18G>A Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.274-20A>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.369+12G>A Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.369+14A>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.369+6G>A Single submitter
- c.370-13T>A Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.370-20A>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.370-4C>A Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.491+10T>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.491+13A>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.491+14T>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.491+18T>A Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.491+35G>A Single submitter
- c.491+36A>G Single submitter
- c.491+8T>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.492-11C>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.492-16C>A Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.492-5T>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.492-6C>T Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.492-7T>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.639+11_639+12insTTCTTTTGGCAAAAACAAAAA Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.639+11del Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.639+11G>T Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.639+16_639+17insCCACACACACAT Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.639+16C>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.639+7T>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.639+8T>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.639+9G>A Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.639+9G>T Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.640-10T>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.640-16A>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.640-5C>A Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.640-7C>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.761+14A>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.761+9G>T Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.762-13del Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.762-16G>A Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.762-5T>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.762-9T>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.873+16A>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.873+17G>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.873+17G>T Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.873+36G>A Single submitter
- c.874-13A>T Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.874-15A>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.874-15A>T Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.874-18T>A Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.874-19T>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.874-4A>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.89+12G>A Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.89+13G>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.89+16A>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.89+17T>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.89+20C>T Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.89+8G>A Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.90-12T>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.90-19T>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.90-20C>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.90-20C>T Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.90-5T>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.90-7G>A Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.955+10G>T Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.955+16C>T Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.956-15T>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.956-19A>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.956-7C>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.956-8C>T Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.*15_*40del Single submitter
- p.Ala156= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ala173= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ala2= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ala206= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ala231= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ala243= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ala268= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ala289= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ala363= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ala381= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ala399= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ala4= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ala435= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ala442= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ala502= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ala503= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ala504= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ala55= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ala565= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ala609Val Single submitter Inborn genetic diseases
- p.Ala61= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ala95= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Arg18= Single submitter
- p.Arg196= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Arg196Gly Single submitter Inborn genetic diseases
- p.Arg216= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Arg232= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Arg233= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Arg299= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Arg409Gln Single submitter Inborn genetic diseases
- p.Arg409Pro Single submitter Inborn genetic diseases
- p.Arg415= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Arg452= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Arg456= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Arg47= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Arg500= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Arg63= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Arg66= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Asn17= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Asn472= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Asn483= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Asn588= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Asn616= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Asp354= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Asp411= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Asp424= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Asp468= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Asp524Asn Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Asp720= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Cys129= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Cys600= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gln36= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gln457= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gln495= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gln529= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Glu137= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Glu226= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Glu288= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Glu357= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Glu374= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gly128= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gly209= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gly262= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gly293= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gly46= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gly462= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gly587= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gly593= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gly625= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gly647= Single submitter
- p.Gly99= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.His194= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.His404= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.His476= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.His88= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ile114= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ile246= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ile467= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ile467Val Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ile489= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ile49= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ile578= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ile613= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ile627= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Leu11= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Leu141= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Leu22= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Leu25= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Leu26= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Leu27= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Leu271= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Leu340= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Leu360= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Leu370= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Leu405= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Leu473= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Leu496= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Leu498= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Leu498Phe Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Leu513= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Leu611= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Leu614= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Leu620= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Lys112= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Lys494= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Lys518= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Lys599= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Lys663= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Lys69= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Lys721= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Phe323= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Phe382= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Phe395= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Phe469= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Phe488= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Phe583= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Phe698= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Pro100= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Pro154= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Pro201= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Pro23= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Pro253= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Pro28= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Pro29= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Pro290= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Pro401= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Pro412= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Pro477= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ser166= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ser187= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ser220= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ser327= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ser371= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ser507Phe Single submitter Inborn genetic diseases
- p.Ser538= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ser541= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ser548= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ser575= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ser591= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
Uncertain significance 314
Showing the top 300 by review status; the full set is in the sitemap.
- c.1268-7A>G Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ala101Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala101Val Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ala117Asp Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ala291= Multiple submitters Inborn genetic diseases
- p.Ala447Ser Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ala44Phe Multiple submitters Inborn genetic diseases
- p.Ala44Ser Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ala521Thr Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ala530Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg208Gln Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Arg281Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg409Leu Multiple submitters Inborn genetic diseases ⚠
- p.Arg47Gly Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Asn267Lys Multiple submitters Inborn genetic diseases ⚠
- p.Asn569Tyr Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Asn603Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp594Glu Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Asp672Gly Multiple submitters Inborn genetic diseases ⚠
- p.Glu383Lys Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Gly130Val Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Gly199Val Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Gly209Asp Multiple submitters MCCC1-related disorder ⚠
- p.Gly212Ala Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Gly214Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gly293Ser Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Gly317Ala Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Gly462Val Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Gly572Ala Multiple submitters Inborn genetic diseases ⚠
- p.Gly665Glu Multiple submitters Inborn genetic diseases ⚠
- p.His255Asn Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.His265Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Ile125Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile467Phe Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Leu473Val Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Lys143Met Multiple submitters Inborn genetic diseases ⚠
- p.Lys300Glu Multiple submitters Inborn genetic diseases ⚠
- p.Met522Thr Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Met553Lys Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Met682Arg Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Met682Ile Multiple submitters Inborn genetic diseases ⚠
- p.Pro28Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro632Ser Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ser187Pro Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ser24Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ser406Pro Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ser548Leu Multiple submitters MCCC1-related disorder ⚠
- p.Ser601Phe Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ser80Asn Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Thr567Met Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Tyr549His Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Tyr568Cys Multiple submitters Inborn genetic diseases ⚠
- p.Tyr590His Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Tyr96His Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Val207Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val428Met Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Val697Met Multiple submitters 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.137-10T>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1377+5G>A Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1377+6T>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1594+3A>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1594+6G>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1731+6C>G Single submitter Inborn genetic diseases
- c.1977+4dup Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.2050-2A>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.273+382C>T Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.273+4T>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.273+5G>A Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.369+3392T>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.370-16T>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.492-3A>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.639+18_639+19insAAGATTGTGCATGCTTCCACCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.639+6A>T Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.873_873+3dup Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.955+3300A>G Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.955+6T>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.-23C>T Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.*45A>T Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.*6A>C Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.*90G>A Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ala117Val Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ala121Val Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ala122Val Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ala139Thr Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ala195Thr Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ala268Val Single submitter Inborn genetic diseases ⚠
- p.Ala291Glu Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ala306Ser Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ala309Thr Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ala310Pro Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ala410Glu Single submitter Inborn genetic diseases ⚠
- p.Ala435Val Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ala442Ser Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ala447Thr Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ala503Glu Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ala6Val Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ala77Val Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ala82Gly Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ala95Thr Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Arg208Trp Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Arg216Lys Single submitter Inborn genetic diseases ⚠
- p.Arg232Gln Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Arg254= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Arg254Ser Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Arg339Met Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Arg409Gly Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Arg421Gln Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Arg456Cys Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Arg456His Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Arg544Gly Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Arg544Ser Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Arg57Lys Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Arg63Lys Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Arg66His Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Arg700Gly Single submitter Inborn genetic diseases ⚠
- p.Asn314Lys Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Asn337Ser Single submitter ⚠
- p.Asn466Ser Single submitter ⚠
- p.Asn561Ser Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Asn706fs Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Asp185Asn Single submitter Inborn genetic diseases ⚠
- p.Asp275Glu Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Asp354Glu Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Asp411Gly Single submitter Inborn genetic diseases ⚠
- p.Asp424Asn Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Asp532Gly Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Asp571Glu Single submitter Inborn genetic diseases ⚠
- p.Asp571Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp571Val Single submitter Inborn genetic diseases ⚠
- p.Asp594Asn Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Asp691His Single submitter Inborn genetic diseases ⚠
- p.Asp83His Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Cys276Gly Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Cys595Tyr Single submitter Inborn genetic diseases ⚠
- p.Gln104Lys Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Gln105Arg Single submitter Inborn genetic diseases ⚠
- p.Gln105His Single submitter ⚠
- p.Gln259Leu Single submitter ⚠
- p.Gln445Pro Single submitter Inborn genetic diseases ⚠
- p.Gln577Arg Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Gln577Leu Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Gln643Arg Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Gln74Pro Single submitter
- p.Glu134Gly Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Glu15Lys Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Glu234Lys Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Glu247Lys Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Glu287Gly Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Glu322Val Single submitter ⚠
- p.Glu366Asp Single submitter Inborn genetic diseases ⚠
- p.Glu383Asp Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Glu425Gln Single submitter Inborn genetic diseases ⚠
- p.Glu425Lys Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Glu506Ala Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Glu592Lys Single submitter Inborn genetic diseases ⚠
- p.Glu615Gln Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Glu683Lys Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Gly146Ala Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Gly151= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gly151Asp Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Gly210Ala Single submitter ⚠
- p.Gly262Ser Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Gly317Val Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Gly319Arg Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Gly319Glu Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Gly379Ala Single submitter Inborn genetic diseases ⚠
- p.Gly379dup Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gly475_His476delinsAsn Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Gly482Arg Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Gly702Asp Single submitter Inborn genetic diseases ⚠
- p.Gly72Ala Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Gly99Arg Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.His182Asn Single submitter Inborn genetic diseases ⚠
- p.His20Arg Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.His265Arg Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.His329Arg Single submitter Inborn genetic diseases ⚠
- p.His329Gln Single submitter Inborn genetic diseases ⚠
- p.His380Gln Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.His380Leu Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.His380Pro Single submitter ⚠
- p.His429Arg Single submitter Inborn genetic diseases ⚠
- p.His476Leu Single submitter Inborn genetic diseases ⚠
- p.His485Gln Single submitter Inborn genetic diseases ⚠
- p.His492Gln Single submitter Inborn genetic diseases ⚠
- p.His492Tyr Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.His531Arg Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.His684Arg Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.His88Arg Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.His88Tyr Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ile114Met Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ile217Phe Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ile246Val Single submitter Inborn genetic diseases ⚠
- p.Ile286Thr Single submitter ⚠
- p.Ile294Val Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ile350Val Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ile375Val Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ile54Thr Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ile618Val Single submitter Inborn genetic diseases ⚠
- p.Ile629Thr Single submitter Inborn genetic diseases ⚠
- p.Ile657Thr Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ile686Val Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Leu132Arg Single submitter Inborn genetic diseases ⚠
- p.Leu455Ile Single submitter Inborn genetic diseases ⚠
- p.Leu473Pro Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Leu528Phe Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Leu637Val Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Leu711Ter Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Lys163Gln Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Lys237Asn Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Lys301Arg Single submitter Inborn genetic diseases ⚠
- p.Lys328Asn Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Lys436Glu Single submitter MCCC1-related disorder ⚠
- p.Lys494Ile Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Lys505Glu Single submitter Inborn genetic diseases ⚠
- p.Lys51Glu Single submitter Inborn genetic diseases ⚠
- p.Lys69Glu Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Lys70Glu Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Met110Val Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Met160Ile Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Met203Thr Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Met244Val Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Met334Lys Single submitter MCCC1-related disorder ⚠
- p.Met334Val Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Met396Val Single submitter Inborn genetic diseases ⚠
- p.Met39Ile Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Met553Val Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Met675Arg Single submitter Inborn genetic diseases ⚠
- p.Met675Thr Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Met677Arg Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Met680Val Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Met87Arg Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Met91Thr Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Pro152Ser Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Pro201Thr Single submitter Inborn genetic diseases ⚠
- p.Pro23Leu Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Pro28Leu Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Pro397Ser Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Pro408Leu Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Pro408Ser Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Pro490Leu Single submitter Inborn genetic diseases ⚠
- p.Ser164Asn Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ser166Phe Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ser168Tyr Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ser24Arg Single submitter ⚠
- p.Ser277Asn Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ser277Gly Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ser296Tyr Single submitter Inborn genetic diseases ⚠
- p.Ser474Pro Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ser499Gly Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ser540Asn Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ser575Asn Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ser607Asn Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ser622Pro Single submitter ⚠
- p.Ser86Pro Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Thr338Ala Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Thr347Asn Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Thr376Ile Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Thr45= Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Thr45Ile Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Thr527Ile Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Thr596Asn Single submitter Inborn genetic diseases ⚠
- p.Thr67Ile Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Thr75Ala Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Tyr107Cys Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Tyr270Cys Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Tyr270His Single submitter Inborn genetic diseases ⚠
- p.Tyr430Asp Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Tyr458Cys Single submitter ⚠
- p.Tyr574Cys Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Val256Ile Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Val269Ala Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Val356Ala Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Val403Gly Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Val403Leu Single submitter Inborn genetic diseases ⚠
- p.Val420Ala Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Val484Leu Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Val566Ile Single submitter ⚠
- p.Val662Phe Single submitter 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Val668Ala Single submitter Inborn genetic diseases ⚠
- p.Val697Ala Single submitter Inborn genetic diseases
- c.1083+4A>C No assertion criteria 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1378-5C>T No assertion criteria 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1682-9T>C No assertion criteria 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1731+4A>G No assertion criteria 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.1869+9T>A No assertion criteria 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.370-4C>T No assertion criteria 3-methylcrotonyl-CoA carboxylase 1 deficiency
- c.955+3A>T No assertion criteria 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ala268_Tyr270del No assertion criteria 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ala306= No assertion criteria 3-methylcrotonyl-CoA carboxylase deficiency
- p.Ala310= No assertion criteria 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.Ala318Thr No assertion criteria 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Ala55Thr No assertion criteria 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Asp242Tyr No assertion criteria 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Cys62Tyr No assertion criteria 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Glu221Asp No assertion criteria 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Gly128Glu No assertion criteria 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Gly400= No assertion criteria 3-methylcrotonyl-CoA carboxylase 1 deficiency
- p.His492Arg No assertion criteria 3-methylcrotonyl-CoA carboxylase deficiency ⚠
- p.Ile516Met No assertion criteria 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠
- p.Leu26Phe No assertion criteria 3-methylcrotonyl-CoA carboxylase 1 deficiency ⚠