MMACHC — 551 ClinVar variants

All ClinVar germline MMACHC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 145 flagged for review →

50 Pathogenic · 38 Pathogenic/Likely pathogenic · 47 Likely pathogenic · 32 Conflicting · 23 Benign · 3 Benign/Likely benign · 166 Likely benign · 192 Uncertain significance

Full MMACHC gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 145

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 3

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

MMACHC p.Arg189Cys Pathogenic/Likely pathogenic Multiple submitters
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Gln27Arg Pathogenic Multiple submitters
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Glu92Asp Pathogenic Multiple submitters
MMACHC-related disorder

Predictors agree, ClinVar conflicts 13

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

MMACHC p.Ala256Thr Conflicting Single submitter
Inborn genetic diseases
MMACHC p.Arg153Gln Conflicting Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Arg267Trp Conflicting Single submitter
Disorders of Intracellular Cobalamin Metabolism
MMACHC p.Asp14Asn Conflicting Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Glu7Lys Conflicting Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.His122Asn Conflicting Single submitter
MMACHC-related disorder
MMACHC p.Leu53Pro Conflicting Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Pro109Leu Conflicting Single submitter
Disorders of Intracellular Cobalamin Metabolism
MMACHC p.Pro248Arg Conflicting Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Pro3Arg Conflicting Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Ser245Pro Conflicting Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Trp157Cys Conflicting Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Val23Phe Conflicting Single submitter
Disorders of Intracellular Cobalamin Metabolism

Predictors lean, ClinVar uncertain 93

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

MMACHC p.Ala191Val Uncertain significance Multiple submitters
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Arg132Gln Uncertain significance Multiple submitters
Inborn genetic diseases
MMACHC p.Arg267Gln Uncertain significance Multiple submitters
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Arg267Gly Uncertain significance Multiple submitters
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Arg61Gln Uncertain significance Multiple submitters
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Arg89His Uncertain significance Multiple submitters
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Asn110Ser Uncertain significance Multiple submitters
Inborn genetic diseases
MMACHC p.Asp104Val Uncertain significance Multiple submitters
Inborn genetic diseases
MMACHC p.Asp77Gly Uncertain significance Multiple submitters
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Cys149Tyr Uncertain significance Multiple submitters
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Glu106Lys Uncertain significance Multiple submitters
Disorders of Intracellular Cobalamin Metabolism
MMACHC p.Glu13Ala Uncertain significance Multiple submitters
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Gly125Ala Uncertain significance Multiple submitters
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Gly195Ala Uncertain significance Multiple submitters
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Ile115Val Uncertain significance Multiple submitters
Inborn genetic diseases
MMACHC p.Ile145Val Uncertain significance Multiple submitters
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Ile99Thr Uncertain significance Multiple submitters
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Met58Thr Uncertain significance Multiple submitters
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Phe158Leu Uncertain significance Multiple submitters
Inborn genetic diseases
MMACHC p.Phe252Leu Uncertain significance Multiple submitters
Inborn genetic diseases
MMACHC p.Pro255Ala Uncertain significance Multiple submitters
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Pro255Ser Uncertain significance Multiple submitters
Inborn genetic diseases
MMACHC p.Pro257Leu Uncertain significance Multiple submitters
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Pro282Thr Uncertain significance Multiple submitters
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Pro42Leu Uncertain significance Multiple submitters
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Ser54Arg Uncertain significance Multiple submitters
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Thr119Arg Uncertain significance Multiple submitters
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Thr185Pro Uncertain significance Multiple submitters
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Trp30Arg Uncertain significance Multiple submitters
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Tyr85Ser Uncertain significance Multiple submitters
Inborn genetic diseases
MMACHC p.Ala191Ser Uncertain significance Single submitter
Inborn genetic diseases
MMACHC p.Ala38Val Uncertain significance Single submitter
MMACHC p.Ala49Pro Uncertain significance Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Ala49Thr Uncertain significance Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Ala49Val Uncertain significance Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Arg186Lys Uncertain significance Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Arg230Gln Uncertain significance Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Arg230Leu Uncertain significance Single submitter
Inborn genetic diseases
MMACHC p.Arg89Cys Uncertain significance Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Arg89Ser Uncertain significance Single submitter
MMACHC p.Asn142Lys Uncertain significance Single submitter
Disorders of Intracellular Cobalamin Metabolism
MMACHC p.Asn142Ser Uncertain significance Single submitter
Inborn genetic diseases
MMACHC p.Asp104Asn Uncertain significance Single submitter
Inborn genetic diseases
MMACHC p.Asp188Asn Uncertain significance Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Cys82Tyr Uncertain significance Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Gln10His Uncertain significance Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Glu136Lys Uncertain significance Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Glu170Gln Uncertain significance Single submitter
Inborn genetic diseases
MMACHC p.Glu170Val Uncertain significance Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Glu96Lys Uncertain significance Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Gly20Asp Uncertain significance Single submitter
Disorders of Intracellular Cobalamin Metabolism
MMACHC p.His108Tyr Uncertain significance Single submitter
MMACHC p.Ile102Val Uncertain significance Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Ile160Val Uncertain significance Single submitter
Inborn genetic diseases
MMACHC p.Ile169Thr Uncertain significance Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Leu16Pro Uncertain significance Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Leu250Ile Uncertain significance Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Leu53Val Uncertain significance Single submitter
Inborn genetic diseases
MMACHC p.Leu94Phe Uncertain significance Single submitter
Inborn genetic diseases
MMACHC p.Lys11Thr Uncertain significance Single submitter
MMACHC p.Met74Ile Uncertain significance Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Phe158Ser Uncertain significance Single submitter
MMACHC p.Pro113Arg Uncertain significance Single submitter
MMACHC p.Pro18Ser Uncertain significance Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Pro243Ala Uncertain significance Single submitter
Disorders of Intracellular Cobalamin Metabolism
MMACHC p.Pro248Leu Uncertain significance Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Pro255Leu Uncertain significance Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Pro255Thr Uncertain significance Single submitter
Inborn genetic diseases
MMACHC p.Pro272Ala Uncertain significance Single submitter
MMACHC p.Pro277Ser Uncertain significance Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Pro282Arg Uncertain significance Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Pro36Arg Uncertain significance Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Pro46Arg Uncertain significance Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Ser264Arg Uncertain significance Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Ser264Asn Uncertain significance Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Ser279Phe Uncertain significance Single submitter
Inborn genetic diseases
MMACHC p.Ser54Gly Uncertain significance Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Thr47Ile Uncertain significance Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Trp200Arg Uncertain significance Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Tyr129His Uncertain significance Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Val107Met Uncertain significance Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Val135Met Uncertain significance Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Val164Met Uncertain significance Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Val183Ile Uncertain significance Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Val5Asp Uncertain significance Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Val83Met Uncertain significance Single submitter
MMACHC p.Ala256Asp Uncertain significance No assertion criteria
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Arg230Pro Uncertain significance No assertion criteria
MMACHC p.Arg265Lys Uncertain significance No assertion criteria
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Gln133Lys Uncertain significance No assertion criteria
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Leu193Phe Uncertain significance No assertion criteria
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Pro56Leu Uncertain significance No assertion criteria
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Thr119Ile Uncertain significance No assertion criteria
methylmalonic aciduria and homocystinuria type cblC

Predictors split 36

The independent predictors disagree with each other — read with care.

MMACHC p.Ala117Pro Pathogenic/Likely pathogenic Multiple submitters
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Ala120Ser Uncertain significance Multiple submitters
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Arg112Cys Uncertain significance Multiple submitters
Inborn genetic diseases
MMACHC p.Arg112His Uncertain significance Multiple submitters
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Asp60His Benign Multiple submitters
Disorders of Intracellular Cobalamin Metabolism
MMACHC p.Cys182Tyr Uncertain significance Multiple submitters
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Gly168Glu Uncertain significance Multiple submitters
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Ile145Thr Uncertain significance Multiple submitters
Inborn genetic diseases
MMACHC p.Leu234Ser Uncertain significance Multiple submitters
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Leu53Phe Uncertain significance Multiple submitters
MMACHC-related disorder
MMACHC p.Phe154Leu Uncertain significance Multiple submitters
Inborn genetic diseases
MMACHC p.Phe26Leu Uncertain significance Multiple submitters
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Thr119Ala Uncertain significance Multiple submitters
Inborn genetic diseases
MMACHC p.Thr47Asn Uncertain significance Multiple submitters
Inborn genetic diseases
MMACHC p.Thr55Met Uncertain significance Multiple submitters
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Val135Leu Uncertain significance Multiple submitters
Disorders of Intracellular Cobalamin Metabolism
MMACHC p.Val183Ala Uncertain significance Multiple submitters
Inborn genetic diseases
MMACHC p.Ala127Thr Uncertain significance Single submitter
Inborn genetic diseases
MMACHC p.Ala49Gly Uncertain significance Single submitter
MMACHC p.Arg111Gln Conflicting Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Arg61Trp Conflicting Single submitter
Methylmalonic aciduria, type cblc
MMACHC p.Asn197Ser Uncertain significance Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Cys182Arg Conflicting Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Gln131His Uncertain significance Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Glu194Lys Uncertain significance Single submitter
Inborn genetic diseases
MMACHC p.Gly156Ala Likely pathogenic Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Gly168Arg Uncertain significance Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Ile190Ser Uncertain significance Single submitter
Inborn genetic diseases
MMACHC p.Leu116Met Likely pathogenic Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Leu116Val Likely pathogenic Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Lys11Asn Uncertain significance Single submitter
Inborn genetic diseases
MMACHC p.Phe198Leu Uncertain significance Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Pro18Leu Uncertain significance Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Val163Ala Uncertain significance Single submitter
methylmalonic aciduria and homocystinuria type cblC
MMACHC p.Val28Ala Uncertain significance Single submitter
Inborn genetic diseases
MMACHC p.Ile101Asn Uncertain significance No assertion criteria
methylmalonic aciduria and homocystinuria type cblC

All MMACHC variants

Pathogenic 50

c.81+1G>A Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Arg111Ter Multiple submitters MMACHC-related disorder
p.Arg132Ter Multiple submitters MMACHC-related disorder
p.Arg153Ter Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Arg161Gln Multiple submitters MMACHC-related disorder
p.Arg161Ter Multiple submitters MMACHC-related disorder
p.Arg73Ter Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Arg91fs Multiple submitters methylmalonic aciduria and homocystinuria
p.Asn110fs Multiple submitters MMACHC-related disorder
p.Asp60fs Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Asp77fs Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Cys149fs Multiple submitters MMACHC-related disorder
p.Gln118fs Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Gln133fs Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Gln27Arg Multiple submitters methylmalonic aciduria and homocystinuria type cblC ⚠
p.Glu92Asp Multiple submitters MMACHC-related disorder ⚠
p.Gly156Asp Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Ile190fs Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Leu63fs Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Met1Ile Multiple submitters MMACHC-related disorder
p.Met1Val Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Pro167fs Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Pro42fs Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Val183fs Multiple submitters MMACHC-related disorder
c.429+1G>C Single submitter methylmalonic aciduria and homocystinuria type cblC
c.81+1G>T Single submitter methylmalonic aciduria and homocystinuria type cblC
c.81+2T>C Single submitter methylmalonic aciduria and homocystinuria type cblC
c.-90del Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Gln143Ter Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Gly162fs Single submitter methylmalonic aciduria and homocystinuria type cblC
p.His122fs Single submitter methylmalonic aciduria and homocystinuria type cblC
p.His122Leu Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Ile12fs Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Ile145fs Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Ile150Lys Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Ile160delinsHisProArgGlySerAlaAlaAlaArgAspArgGlyAlaArgSerAlaThrGlnLysThrSerTer Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Ile160fs Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Leu43fs Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Leu51fs Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Lys178fs Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Met1Leu Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Pro152fs Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Ser146_Ile150del Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Trp140Ter Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Tyr31Ter Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Val5fs Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Arg91Ter No assertion criteria methylmalonic aciduria and homocystinuria type cblC
p.Gln118Ter No assertion criteria methylmalonic aciduria and homocystinuria type cblC
p.Gln27= No assertion criteria METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC
p.Gly155Glu No assertion criteria methylmalonic aciduria and homocystinuria type cblC

Pathogenic/Likely pathogenic 38

c.81+1G>C Multiple submitters methylmalonic aciduria and homocystinuria type cblC
c.81+2T>G Multiple submitters methylmalonic aciduria and homocystinuria type cblC
c.82-1G>A Multiple submitters MMACHC-related disorder
c.82-2A>G Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Ala117Pro Multiple submitters methylmalonic aciduria and homocystinuria type cblC ⚠
p.Arg161Gly Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Arg186fs Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Arg189Cys Multiple submitters methylmalonic aciduria and homocystinuria type cblC ⚠
p.Arg189fs Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Arg189His Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Arg189Ser Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Arg61Pro Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Asp104fs Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Cys17fs Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Cys182Ter Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Gln68Ter Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Gln98Ter Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Glu170fs Multiple submitters MMACHC-related disorder
p.Glu96fs Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Gly147Ala Multiple submitters MMACHC-related disorder
p.Gly147Asp Multiple submitters MMACHC-related disorder
p.Gly162Trp Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.His151Arg Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Ile169fs Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Leu116Pro Multiple submitters MMACHC-related disorder
p.Leu193Pro Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Leu94fs Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Met1Arg Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Met1Thr Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Ser146fs Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Trp157Ter Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Trp30_Glu33delinsTer Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Trp30Ter Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Tyr105Ter Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Tyr129fs Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Tyr130Cys Multiple submitters MMACHC-related disorder
p.Tyr130del Multiple submitters MMACHC-related disorder
p.Tyr130His Multiple submitters MMACHC-related disorder

Likely pathogenic 47

c.430-1G>A Multiple submitters methylmalonic aciduria and homocystinuria type cblC
c.430-2A>G Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Glu92= Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Glu92fs Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Gly155Arg Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Val148fs Multiple submitters methylmalonic aciduria and homocystinuria type cblC
c.276+2del Single submitter methylmalonic aciduria and homocystinuria type cblC
c.276+2T>C Single submitter methylmalonic aciduria and homocystinuria type cblC
c.277-1G>A Single submitter methylmalonic aciduria and homocystinuria type cblC
c.277-2A>G Single submitter methylmalonic aciduria and homocystinuria type cblC
c.277-3_303del Single submitter methylmalonic aciduria and homocystinuria type cblC
c.280_289del Single submitter methylmalonic aciduria and homocystinuria type cblC
c.429+2T>A Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Arg132del Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Arg161Leu Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Arg189delinsHisProArgGlySerAlaAlaAlaArgAspArgGlyAlaArgSerAlaThrGlnLysThrSerTer Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Arg189Leu Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Arg89_Val90insTer Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Asp134fs Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Asp188_Ala191del Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Cys17Ter Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Gln81Ter Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Glu33Ter Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Gly147Arg Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Gly147Ser Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Gly156Ala Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Gly156Ser Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Gly162_Val163insTer Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Gly162Arg Single submitter methylmalonic aciduria and homocystinuria type cblC
p.His122Gln Single submitter methylmalonic aciduria and homocystinuria type cblC
p.His151fs Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Leu116Met Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Leu116Val Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Leu192fs Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Leu48fs Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Lys64fs Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Met1fs Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Phe19fs Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Phe66fs Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Pro152del Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Pro18fs Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Ser93fs Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Tyr24fs Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Asp181fs No assertion criteria methylmalonic aciduria and homocystinuria type cblC
p.Gln131Ter No assertion criteria methylmalonic aciduria and homocystinuria type cblC
p.Pro139Ter No assertion criteria methylmalonic aciduria and homocystinuria type cblC
p.Tyr24Ter No assertion criteria methylmalonic aciduria and homocystinuria type cblC

Conflicting classifications of pathogenicity 32

c.276+13_276+14del Single submitter methylmalonic aciduria and homocystinuria type cblC
c.277-4C>G Single submitter Inborn genetic diseases
c.429+14T>G Single submitter methylmalonic aciduria and homocystinuria type cblC
c.430-10C>A Single submitter methylmalonic aciduria and homocystinuria type cblC
c.82-11_82-8del Single submitter Likely inborn error of metabolism
c.*5C>G Single submitter Disorders of Intracellular Cobalamin Metabolism
p.Ala121_His122insGlnThrAlaAla Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Ala256_Pro257del Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Ala256Thr Single submitter Inborn genetic diseases ⚠
p.Arg111Gln Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Arg153Gln Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Arg267Trp Single submitter Disorders of Intracellular Cobalamin Metabolism ⚠
p.Arg61Trp Single submitter Methylmalonic aciduria, type cblc ⚠
p.Asp14Asn Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Cys182Arg Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Gln118= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Gln238Ter Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Glu7Lys Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.His122Asn Single submitter MMACHC-related disorder ⚠
p.Leu231= Single submitter Disorders of Intracellular Cobalamin Metabolism
p.Leu53Pro Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Pro109Leu Single submitter Disorders of Intracellular Cobalamin Metabolism ⚠
p.Pro243fs Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Pro248Arg Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Pro3Arg Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Ser240= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Ser245Pro Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Ser264_Pro272del Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Ter283Leu Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Ter283Ser Single submitter Disorders of Intracellular Cobalamin Metabolism
p.Trp157Cys Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Val23Phe Single submitter Disorders of Intracellular Cobalamin Metabolism ⚠

Benign 23

c.82-221C>T Multiple submitters
c.-302G>T Multiple submitters
c.*1260G>A Multiple submitters Disorders of Intracellular Cobalamin Metabolism
c.*1362G>A Multiple submitters Disorders of Intracellular Cobalamin Metabolism
c.*1585G>C Multiple submitters Disorders of Intracellular Cobalamin Metabolism
c.*1700A>G Multiple submitters Disorders of Intracellular Cobalamin Metabolism
c.*279A>G Multiple submitters Disorders of Intracellular Cobalamin Metabolism
c.*413G>A Multiple submitters Disorders of Intracellular Cobalamin Metabolism
c.*969C>G Multiple submitters Disorders of Intracellular Cobalamin Metabolism
p.Asp60His Multiple submitters Disorders of Intracellular Cobalamin Metabolism ⚠
p.Pro246= Multiple submitters Disorders of Intracellular Cobalamin Metabolism
p.Val107= Multiple submitters Disorders of Intracellular Cobalamin Metabolism
c.276+214dup Single submitter
c.277-190C>T Single submitter
c.277-256T>C Single submitter
c.429+13del Single submitter methylmalonic aciduria and homocystinuria type cblC
c.81+213A>G Single submitter
c.*200_*201insTTTTTT Single submitter
c.*206_*217dup Single submitter
c.*2085C>T Single submitter
c.*212_*217dup Single submitter
c.*213_*217dup Single submitter
c.*310G>A Single submitter Disorders of Intracellular Cobalamin Metabolism

Benign/Likely benign 3

c.276+17T>A Multiple submitters methylmalonic aciduria and homocystinuria type cblC
c.*269A>G Multiple submitters Disorders of Intracellular Cobalamin Metabolism
p.Ser271Gly Multiple submitters methylmalonic aciduria and homocystinuria type cblC

Likely benign 166

c.277-14G>A Multiple submitters methylmalonic aciduria and homocystinuria type cblC
c.277-49A>G Multiple submitters
c.277-4C>A Multiple submitters methylmalonic aciduria and homocystinuria type cblC
c.277-8_277-3dup Multiple submitters methylmalonic aciduria and homocystinuria type cblC
c.429+18_429+21del Multiple submitters methylmalonic aciduria and homocystinuria type cblC
c.429+9G>C Multiple submitters methylmalonic aciduria and homocystinuria type cblC
c.82-10T>C Multiple submitters methylmalonic aciduria and homocystinuria type cblC
c.*1144A>T Multiple submitters Disorders of Intracellular Cobalamin Metabolism
p.Ala159= Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Ala266= Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Ala38= Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Arg161= Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Arg267= Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Asp134= Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Asp60= Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Gly261= Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Ile145Leu Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Ile190= Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Leu16= Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Leu192= Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Leu233= Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Leu234= Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Leu87= Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Phe154= Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Pro255= Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Pro42= Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Tyr105= Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Val123= Multiple submitters methylmalonic aciduria and homocystinuria type cblC
c.276+10G>A Single submitter methylmalonic aciduria and homocystinuria type cblC
c.276+13C>G Single submitter methylmalonic aciduria and homocystinuria type cblC
c.276+13C>T Single submitter methylmalonic aciduria and homocystinuria type cblC
c.276+17T>C Single submitter methylmalonic aciduria and homocystinuria type cblC
c.276+20C>T Single submitter methylmalonic aciduria and homocystinuria type cblC
c.276+8A>G Single submitter methylmalonic aciduria and homocystinuria type cblC
c.276+9G>A Single submitter methylmalonic aciduria and homocystinuria type cblC
c.277-10A>C Single submitter methylmalonic aciduria and homocystinuria type cblC
c.277-13T>C Single submitter methylmalonic aciduria and homocystinuria type cblC
c.277-15T>G Single submitter methylmalonic aciduria and homocystinuria type cblC
c.277-17_277-16insA Single submitter methylmalonic aciduria and homocystinuria type cblC
c.277-20T>C Single submitter methylmalonic aciduria and homocystinuria type cblC
c.277-4C>T Single submitter methylmalonic aciduria and homocystinuria type cblC
c.277-6T>C Single submitter methylmalonic aciduria and homocystinuria type cblC
c.277-7G>A Single submitter methylmalonic aciduria and homocystinuria type cblC
c.277-9C>T Single submitter methylmalonic aciduria and homocystinuria type cblC
c.429+123C>G Single submitter
c.429+12A>C Single submitter methylmalonic aciduria and homocystinuria type cblC
c.429+14T>A Single submitter methylmalonic aciduria and homocystinuria type cblC
c.429+14T>C Single submitter methylmalonic aciduria and homocystinuria type cblC
c.429+20T>C Single submitter methylmalonic aciduria and homocystinuria type cblC
c.429+20T>G Single submitter methylmalonic aciduria and homocystinuria type cblC
c.429+7_429+31del Single submitter methylmalonic aciduria and homocystinuria type cblC
c.429+7G>A Single submitter methylmalonic aciduria and homocystinuria type cblC
c.429+9G>A Single submitter methylmalonic aciduria and homocystinuria type cblC
c.430-10C>T Single submitter methylmalonic aciduria and homocystinuria type cblC
c.430-11C>T Single submitter methylmalonic aciduria and homocystinuria type cblC
c.430-12C>T Single submitter methylmalonic aciduria and homocystinuria type cblC
c.430-13A>T Single submitter methylmalonic aciduria and homocystinuria type cblC
c.430-16T>C Single submitter methylmalonic aciduria and homocystinuria type cblC
c.430-67A>G Single submitter
c.430-8C>T Single submitter methylmalonic aciduria and homocystinuria type cblC
c.81+10T>G Single submitter methylmalonic aciduria and homocystinuria type cblC
c.81+11C>A Single submitter methylmalonic aciduria and homocystinuria type cblC
c.81+13C>G Single submitter methylmalonic aciduria and homocystinuria type cblC
c.81+13C>T Single submitter methylmalonic aciduria and homocystinuria type cblC
c.81+15C>T Single submitter methylmalonic aciduria and homocystinuria type cblC
c.81+17T>C Single submitter methylmalonic aciduria and homocystinuria type cblC
c.82-16G>C Single submitter methylmalonic aciduria and homocystinuria type cblC
c.82-17T>C Single submitter methylmalonic aciduria and homocystinuria type cblC
c.82-18C>T Single submitter methylmalonic aciduria and homocystinuria type cblC
c.82-7G>A Single submitter methylmalonic aciduria and homocystinuria type cblC
c.82-8T>C Single submitter methylmalonic aciduria and homocystinuria type cblC
c.-15C>G Single submitter
c.*10A>G Single submitter methylmalonic aciduria and homocystinuria type cblC
c.*20T>C Single submitter
c.*211_*217dup Single submitter
c.*217del Single submitter
c.*975C>G Single submitter Disorders of Intracellular Cobalamin Metabolism
p.Ala120= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Ala124= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Ala191= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Ala191Thr Single submitter Inborn genetic diseases
p.Ala232= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Ala237= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Ala49= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Arg144= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Arg61= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Arg91= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Asn197= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Asp104= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Asp138= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Asp14= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Asp188= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Asp77= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Cys182= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Cys70= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Gln10= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Glu106= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Glu96= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Gly125= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Gly141= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Gly147= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Gly162= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Gly88= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.His122= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.His40= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.His71= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.His86= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Ile12= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Ile99= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Leu165= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Leu166= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Leu174= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Leu193= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Leu236= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Leu270= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Leu35= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Leu43= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Leu51= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Leu53= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Leu63= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Leu67= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Leu75= Single submitter
p.Leu94= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Leu97= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Lys11= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Lys242= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Lys9= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Phe196= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Phe21= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Phe26= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Pro113= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Pro167= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Pro18= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Pro243= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Pro25= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Pro251= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Pro257= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Pro263= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Pro272= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Pro276= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Pro277= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Pro282= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Pro3= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Pro65= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Pro78= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Ser146= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Ser244= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Ser264= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Ser268= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Ser271= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Ser54= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Ter283= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Thr15= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Thr254= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Thr47= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Thr55= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Tyr24= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Tyr85= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Val135= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Val183= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Val274= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Val274Ala Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Val5= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Val52= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Val90= Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Ser247= No assertion criteria methylmalonic aciduria and homocystinuria type cblC

Uncertain significance 192

c.-123A>T Multiple submitters Disorders of Intracellular Cobalamin Metabolism
c.*201G>T Multiple submitters Disorders of Intracellular Cobalamin Metabolism
p.Ala120Ser Multiple submitters methylmalonic aciduria and homocystinuria type cblC ⚠
p.Ala191Val Multiple submitters methylmalonic aciduria and homocystinuria type cblC ⚠
p.Arg112Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg112His Multiple submitters methylmalonic aciduria and homocystinuria type cblC ⚠
p.Arg132Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg267fs Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Arg267Gln Multiple submitters methylmalonic aciduria and homocystinuria type cblC ⚠
p.Arg267Gly Multiple submitters methylmalonic aciduria and homocystinuria type cblC ⚠
p.Arg61Gln Multiple submitters methylmalonic aciduria and homocystinuria type cblC ⚠
p.Arg89His Multiple submitters methylmalonic aciduria and homocystinuria type cblC ⚠
p.Asn110delinsLeuLeuThrThr Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Asn110Ser Multiple submitters Inborn genetic diseases ⚠
p.Asp104Val Multiple submitters Inborn genetic diseases ⚠
p.Asp77Gly Multiple submitters methylmalonic aciduria and homocystinuria type cblC ⚠
p.Cys149Tyr Multiple submitters methylmalonic aciduria and homocystinuria type cblC ⚠
p.Cys182Tyr Multiple submitters methylmalonic aciduria and homocystinuria type cblC ⚠
p.Glu106Lys Multiple submitters Disorders of Intracellular Cobalamin Metabolism ⚠
p.Glu13Ala Multiple submitters methylmalonic aciduria and homocystinuria type cblC ⚠
p.Gly125Ala Multiple submitters methylmalonic aciduria and homocystinuria type cblC ⚠
p.Gly168Glu Multiple submitters methylmalonic aciduria and homocystinuria type cblC ⚠
p.Gly195Ala Multiple submitters methylmalonic aciduria and homocystinuria type cblC ⚠
p.Gly281fs Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Ile115Val Multiple submitters Inborn genetic diseases ⚠
p.Ile145Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile145Val Multiple submitters methylmalonic aciduria and homocystinuria type cblC ⚠
p.Ile99Thr Multiple submitters methylmalonic aciduria and homocystinuria type cblC ⚠
p.Leu234fs Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Leu234Ser Multiple submitters methylmalonic aciduria and homocystinuria type cblC ⚠
p.Leu53Phe Multiple submitters MMACHC-related disorder ⚠
p.Lys258fs Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Met58Thr Multiple submitters methylmalonic aciduria and homocystinuria type cblC ⚠
p.Phe154Leu Multiple submitters Inborn genetic diseases ⚠
p.Phe158Leu Multiple submitters Inborn genetic diseases ⚠
p.Phe252Leu Multiple submitters Inborn genetic diseases ⚠
p.Phe26Leu Multiple submitters methylmalonic aciduria and homocystinuria type cblC ⚠
p.Pro255Ala Multiple submitters methylmalonic aciduria and homocystinuria type cblC ⚠
p.Pro255Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro257Leu Multiple submitters methylmalonic aciduria and homocystinuria type cblC ⚠
p.Pro280fs Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Pro282Thr Multiple submitters methylmalonic aciduria and homocystinuria type cblC ⚠
p.Pro42Leu Multiple submitters methylmalonic aciduria and homocystinuria type cblC ⚠
p.Ser54Arg Multiple submitters methylmalonic aciduria and homocystinuria type cblC ⚠
p.Ter283TyrextTer? Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Thr119Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr119Arg Multiple submitters methylmalonic aciduria and homocystinuria type cblC ⚠
p.Thr185Pro Multiple submitters methylmalonic aciduria and homocystinuria type cblC ⚠
p.Thr47Asn Multiple submitters Inborn genetic diseases ⚠
p.Thr55Met Multiple submitters methylmalonic aciduria and homocystinuria type cblC ⚠
p.Trp30Arg Multiple submitters methylmalonic aciduria and homocystinuria type cblC ⚠
p.Tyr85Ser Multiple submitters Inborn genetic diseases ⚠
p.Val135Leu Multiple submitters Disorders of Intracellular Cobalamin Metabolism ⚠
p.Val183Ala Multiple submitters Inborn genetic diseases ⚠
c.276+5G>A Single submitter methylmalonic aciduria and homocystinuria type cblC
c.81+3079A>G Single submitter methylmalonic aciduria and homocystinuria type cblC
c.-106G>T Single submitter Disorders of Intracellular Cobalamin Metabolism
c.-148T>C Single submitter Disorders of Intracellular Cobalamin Metabolism
c.-25G>A Single submitter Disorders of Intracellular Cobalamin Metabolism
c.-94A>G Single submitter Disorders of Intracellular Cobalamin Metabolism
c.*1000A>G Single submitter Disorders of Intracellular Cobalamin Metabolism
c.*1101G>C Single submitter Disorders of Intracellular Cobalamin Metabolism
c.*110A>G Single submitter Disorders of Intracellular Cobalamin Metabolism
c.*11T>C Single submitter Disorders of Intracellular Cobalamin Metabolism
c.*1212G>A Single submitter Disorders of Intracellular Cobalamin Metabolism
c.*1239G>T Single submitter Disorders of Intracellular Cobalamin Metabolism
c.*1241G>A Single submitter Disorders of Intracellular Cobalamin Metabolism
c.*1305C>A Single submitter Disorders of Intracellular Cobalamin Metabolism
c.*1361A>G Single submitter Disorders of Intracellular Cobalamin Metabolism
c.*1473G>C Single submitter Disorders of Intracellular Cobalamin Metabolism
c.*1542T>C Single submitter Disorders of Intracellular Cobalamin Metabolism
c.*1601G>A Single submitter Disorders of Intracellular Cobalamin Metabolism
c.*1622T>C Single submitter Disorders of Intracellular Cobalamin Metabolism
c.*169G>A Single submitter Disorders of Intracellular Cobalamin Metabolism
c.*1701T>A Single submitter Disorders of Intracellular Cobalamin Metabolism
c.*1714A>G Single submitter Disorders of Intracellular Cobalamin Metabolism
c.*1743C>T Single submitter Disorders of Intracellular Cobalamin Metabolism
c.*185A>T Single submitter Disorders of Intracellular Cobalamin Metabolism
c.*200A>T Single submitter Disorders of Intracellular Cobalamin Metabolism
c.*345C>G Single submitter Disorders of Intracellular Cobalamin Metabolism
c.*402T>C Single submitter Disorders of Intracellular Cobalamin Metabolism
c.*438C>G Single submitter Disorders of Intracellular Cobalamin Metabolism
c.*450G>C Single submitter Disorders of Intracellular Cobalamin Metabolism
c.*467G>A Single submitter Disorders of Intracellular Cobalamin Metabolism
c.*624T>G Single submitter Disorders of Intracellular Cobalamin Metabolism
c.*677A>G Single submitter Disorders of Intracellular Cobalamin Metabolism
c.*707G>A Single submitter Disorders of Intracellular Cobalamin Metabolism
c.*730C>T Single submitter Disorders of Intracellular Cobalamin Metabolism
c.*740T>C Single submitter Disorders of Intracellular Cobalamin Metabolism
c.*799T>C Single submitter Disorders of Intracellular Cobalamin Metabolism
c.*818C>T Single submitter Disorders of Intracellular Cobalamin Metabolism
c.*82A>G Single submitter Disorders of Intracellular Cobalamin Metabolism
c.*840T>A Single submitter Disorders of Intracellular Cobalamin Metabolism
c.*84G>T Single submitter Disorders of Intracellular Cobalamin Metabolism
c.*962C>T Single submitter Disorders of Intracellular Cobalamin Metabolism
p.Ala127Thr Single submitter Inborn genetic diseases ⚠
p.Ala191Ser Single submitter Inborn genetic diseases ⚠
p.Ala266fs Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Ala38Val Single submitter ⚠
p.Ala49Gly Single submitter ⚠
p.Ala49Pro Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Ala49Thr Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Ala49Val Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Arg186Lys Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Arg230Gln Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Arg230Leu Single submitter Inborn genetic diseases ⚠
p.Arg273fs Single submitter
p.Arg89Cys Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Arg89Ser Single submitter ⚠
p.Asn142Lys Single submitter Disorders of Intracellular Cobalamin Metabolism ⚠
p.Asn142Ser Single submitter Inborn genetic diseases ⚠
p.Asn197Ser Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Asp104Asn Single submitter Inborn genetic diseases ⚠
p.Asp188Asn Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Cys82Ter Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Cys82Tyr Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Gln10His Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Gln118_Ala121del Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Gln131His Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Glu136Lys Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Glu170Gln Single submitter Inborn genetic diseases ⚠
p.Glu170Val Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Glu194Lys Single submitter Inborn genetic diseases ⚠
p.Glu241_Ser244del Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Glu241fs Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Glu96Lys Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Gly168Arg Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Gly20Asp Single submitter Disorders of Intracellular Cobalamin Metabolism ⚠
p.Gly235fs Single submitter methylmalonic aciduria and homocystinuria type cblC
p.His108Tyr Single submitter ⚠
p.Ile102Val Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Ile160Val Single submitter Inborn genetic diseases ⚠
p.Ile169Thr Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Ile190Ser Single submitter Inborn genetic diseases ⚠
p.Leu166del Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Leu16Pro Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Leu236Ser Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Leu250Ile Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Leu53Val Single submitter Inborn genetic diseases ⚠
p.Leu94Phe Single submitter Inborn genetic diseases ⚠
p.Lys11Asn Single submitter Inborn genetic diseases ⚠
p.Lys11Thr Single submitter ⚠
p.Met74Ile Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Phe158Ser Single submitter ⚠
p.Phe198Leu Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Pro113Arg Single submitter ⚠
p.Pro18Leu Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Pro18Ser Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Pro243Ala Single submitter Disorders of Intracellular Cobalamin Metabolism ⚠
p.Pro248= Single submitter
p.Pro248Leu Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Pro255Leu Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Pro255Thr Single submitter Inborn genetic diseases ⚠
p.Pro272Ala Single submitter ⚠
p.Pro277Ser Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Pro282Arg Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Pro36Arg Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Pro46Arg Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Ser264Arg Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Ser264Asn Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Ser279Phe Single submitter Inborn genetic diseases ⚠
p.Ser54Gly Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Ter283Arg Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Thr47Ile Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Trp157del Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Trp200Arg Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Tyr105del Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Tyr129His Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Val107Met Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Val135Met Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Val163Ala Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Val164Met Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Val183Ile Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Val28Ala Single submitter Inborn genetic diseases ⚠
p.Val5Asp Single submitter methylmalonic aciduria and homocystinuria type cblC ⚠
p.Val83Met Single submitter ⚠
c.429+3G>A No assertion criteria methylmalonic aciduria and homocystinuria type cblC
p.Ala256Asp No assertion criteria methylmalonic aciduria and homocystinuria type cblC ⚠
p.Arg230Pro No assertion criteria ⚠
p.Arg265Lys No assertion criteria methylmalonic aciduria and homocystinuria type cblC ⚠
p.Asp249fs No assertion criteria methylmalonic aciduria and homocystinuria type cblC
p.Gln131del No assertion criteria methylmalonic aciduria and homocystinuria type cblC
p.Gln133Lys No assertion criteria methylmalonic aciduria and homocystinuria type cblC ⚠
p.Gly125_Ala127del No assertion criteria methylmalonic aciduria and homocystinuria type cblC
p.Ile101Asn No assertion criteria methylmalonic aciduria and homocystinuria type cblC ⚠
p.Leu193Phe No assertion criteria methylmalonic aciduria and homocystinuria type cblC ⚠
p.Phe66del No assertion criteria methylmalonic aciduria and homocystinuria type cblC
p.Pro56Leu No assertion criteria methylmalonic aciduria and homocystinuria type cblC ⚠
p.Ter283CysextTer? No assertion criteria methylmalonic aciduria and homocystinuria type cblC
p.Ter283PheextTer? No assertion criteria methylmalonic aciduria and homocystinuria type cblC
p.Ter283Trp No assertion criteria methylmalonic aciduria and homocystinuria type cblC
p.Thr119Ile No assertion criteria methylmalonic aciduria and homocystinuria type cblC ⚠