MMUT — 1156 ClinVar variants
All ClinVar germline MMUT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 303 flagged for review →
202 Pathogenic · 63 Pathogenic/Likely pathogenic · 130 Likely pathogenic · 46 Conflicting · 31 Benign · 8 Benign/Likely benign · 366 Likely benign · 310 Uncertain significance
Full MMUT gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 303
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 6
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
MMUT p.Arg403Gln
Pathogenic/Likely pathogenic
Multiple submitters
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
-
MMUT p.Tyr316Cys
Pathogenic/Likely pathogenic
Multiple submitters
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- MMUT p.Ala324Ser Likely pathogenic Single submitter
-
MMUT p.Ala558Val
Likely pathogenic
Single submitter
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- MMUT p.Arg603Lys Pathogenic Single submitter
- MMUT p.Val153Ile Likely pathogenic Single submitter
Predictors agree, ClinVar conflicts 25
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
MMUT p.Ala141Val
Conflicting
Single submitter
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
-
MMUT p.Ala320Val
Conflicting
Single submitter
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
-
MMUT p.Ala472Val
Conflicting
Single submitter
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
-
MMUT p.Ala664Val
Conflicting
Single submitter
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
-
MMUT p.Arg144Cys
Conflicting
Single submitter
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
-
MMUT p.Arg474Pro
Conflicting
Single submitter
methylmalonic acidemia
-
MMUT p.Arg616His
Conflicting
Single submitter
methylmalonic acidemia
-
MMUT p.Asn189Ser
Conflicting
Single submitter
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
-
MMUT p.Asp156Val
Conflicting
Single submitter
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
-
MMUT p.Gln293Arg
Conflicting
Single submitter
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
-
MMUT p.Gly325Asp
Conflicting
Single submitter
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- MMUT p.Ile505Thr Conflicting Single submitter
-
MMUT p.Ile69Val
Conflicting
Single submitter
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
-
MMUT p.Leu518Pro
Conflicting
Single submitter
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
-
MMUT p.Met186Val
Conflicting
Single submitter
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- MMUT p.Met336Ile Conflicting Single submitter
-
MMUT p.Met375Ile
Conflicting
Single submitter
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- MMUT p.Met99Val Conflicting Single submitter
-
MMUT p.Ser135Leu
Conflicting
Single submitter
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
-
MMUT p.Ser306Phe
Conflicting
Single submitter
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- MMUT p.Ser306Tyr Conflicting Single submitter
-
MMUT p.Thr297Ile
Conflicting
Single submitter
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
-
MMUT p.Thr387Lys
Conflicting
Single submitter
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- MMUT p.Val157Asp Conflicting Single submitter
-
MMUT p.Val633Gly
Conflicting
Single submitter
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
Predictors lean, ClinVar uncertain 200
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 200
- MMUT p.Ala320Thr Uncertain significance Multiple submitters
- MMUT p.Ala631Thr Uncertain significance Multiple submitters
-
MMUT p.Arg144His
Uncertain significance
Multiple submitters
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
-
MMUT p.Arg557Trp
Uncertain significance
Multiple submitters
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
-
MMUT p.Arg588Leu
Uncertain significance
Multiple submitters
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
-
MMUT p.Arg76Lys
Uncertain significance
Multiple submitters
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
-
MMUT p.Asn120Ser
Uncertain significance
Multiple submitters
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
-
MMUT p.Asn507Asp
Uncertain significance
Multiple submitters
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
-
MMUT p.Asp696Ala
Uncertain significance
Multiple submitters
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- MMUT p.Cys742Gly Uncertain significance Multiple submitters
-
MMUT p.Glu593Gln
Uncertain significance
Multiple submitters
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
-
MMUT p.Gly544Arg
Uncertain significance
Multiple submitters
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- MMUT p.His605Arg Uncertain significance Multiple submitters
-
MMUT p.Ile200Val
Uncertain significance
Multiple submitters
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- MMUT p.Ile241Val Uncertain significance Multiple submitters
- MMUT p.Leu494Met Uncertain significance Multiple submitters
-
MMUT p.Lys54Arg
Uncertain significance
Multiple submitters
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- MMUT p.Met431Thr Uncertain significance Multiple submitters
-
MMUT p.Met452Lys
Uncertain significance
Multiple submitters
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
-
MMUT p.Met622Thr
Uncertain significance
Multiple submitters
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
-
MMUT p.Ser523Cys
Uncertain significance
Multiple submitters
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- MMUT p.Thr598Ala Uncertain significance Multiple submitters
-
MMUT p.Thr636Ala
Uncertain significance
Multiple submitters
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
-
MMUT p.Thr63Ile
Uncertain significance
Multiple submitters
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
-
MMUT p.Tyr248Cys
Uncertain significance
Multiple submitters
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- MMUT p.Tyr279Cys Uncertain significance Multiple submitters
-
MMUT p.Val167Met
Uncertain significance
Multiple submitters
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
-
MMUT p.Val421Met
Uncertain significance
Multiple submitters
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
-
MMUT p.Val657Ala
Uncertain significance
Multiple submitters
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
-
MMUT p.Val733Ile
Uncertain significance
Multiple submitters
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- MMUT p.Ala129Pro Uncertain significance Single submitter
- MMUT p.Ala137Pro Uncertain significance Single submitter
- MMUT p.Ala137Val Uncertain significance Single submitter
- MMUT p.Ala141Gly Uncertain significance Single submitter
-
MMUT p.Ala191Val
Uncertain significance
Single submitter
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- MMUT p.Ala269Thr Uncertain significance Single submitter
- MMUT p.Ala371Val Uncertain significance Single submitter
- MMUT p.Ala45Thr Uncertain significance Single submitter
- MMUT p.Ala477Thr Uncertain significance Single submitter
- MMUT p.Ala499Pro Uncertain significance Single submitter
- MMUT p.Ala504Gly Uncertain significance Single submitter
-
MMUT p.Ala541Val
Uncertain significance
Single submitter
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- MMUT p.Ala631Val Uncertain significance Single submitter
-
MMUT p.Ala661Asp
Uncertain significance
Single submitter
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- MMUT p.Arg152Leu Uncertain significance Single submitter
- MMUT p.Arg154Cys Uncertain significance Single submitter
- MMUT p.Arg304Lys Uncertain significance Single submitter
- MMUT p.Arg369Ser Uncertain significance Single submitter
-
MMUT p.Arg603Ser
Uncertain significance
Single submitter
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- MMUT p.Arg613Ser Uncertain significance Single submitter
-
MMUT p.Asn366Ser
Uncertain significance
Single submitter
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- MMUT p.Asn388Asp Uncertain significance Single submitter
- MMUT p.Asn447Asp Uncertain significance Single submitter
- MMUT p.Asn490Asp Uncertain significance Single submitter
- MMUT p.Asn720Ser Uncertain significance Single submitter
- MMUT p.Asp125Glu Uncertain significance Single submitter
- MMUT p.Asp149Glu Uncertain significance Single submitter
- MMUT p.Asp149Val Uncertain significance Single submitter
- MMUT p.Asp628Glu Uncertain significance Single submitter
- MMUT p.Asp665Asn Uncertain significance Single submitter
- MMUT p.Asp737Asn Uncertain significance Single submitter
-
MMUT p.Asp738Gly
Uncertain significance
Single submitter
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- MMUT p.Cys433Arg Uncertain significance Single submitter
- MMUT p.Gln132Leu Uncertain significance Single submitter
- MMUT p.Gln18Arg Uncertain significance Single submitter
- MMUT p.Gln267Arg Uncertain significance Single submitter
- MMUT p.Gln293Pro Uncertain significance Single submitter
- MMUT p.Gln35His Uncertain significance Single submitter
- MMUT p.Gln383Arg Uncertain significance Single submitter
- MMUT p.Gln413Arg Uncertain significance Single submitter
- MMUT p.Gln493His Uncertain significance Single submitter
- MMUT p.Gln493Leu Uncertain significance Single submitter
- MMUT p.Gln659Arg Uncertain significance Single submitter
- MMUT p.Gln734Arg Uncertain significance Single submitter
- MMUT p.Gln734Pro Uncertain significance Single submitter
- MMUT p.Glu224Lys Uncertain significance Single submitter
- MMUT p.Glu276Gln Uncertain significance Single submitter
- MMUT p.Glu334Lys Uncertain significance Single submitter
- MMUT p.Glu373Gly Uncertain significance Single submitter
- MMUT p.Glu415Val Uncertain significance Single submitter
- MMUT p.Glu450Gly Uncertain significance Single submitter
- MMUT p.Glu501Gln Uncertain significance Single submitter
- MMUT p.Glu539Lys Uncertain significance Single submitter
- MMUT p.Glu575Lys Uncertain significance Single submitter
- MMUT p.Glu590Asp Uncertain significance Single submitter
- MMUT p.Glu593Lys Uncertain significance Single submitter
- MMUT p.Glu596Asp Uncertain significance Single submitter
- MMUT p.Glu688Gly Uncertain significance Single submitter
-
MMUT p.Gly130Cys
Uncertain significance
Single submitter
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- MMUT p.Gly133Glu Uncertain significance Single submitter
- MMUT p.Gly133Val Uncertain significance Single submitter
- MMUT p.Gly207Val Uncertain significance Single submitter
- MMUT p.Gly380Arg Uncertain significance Single submitter
- MMUT p.Gly453Ser Uncertain significance Single submitter
- MMUT p.Gly454Arg Uncertain significance Single submitter
- MMUT p.Gly623Val Uncertain significance Single submitter
- MMUT p.Gly626Asp Uncertain significance Single submitter
- MMUT p.Gly66Arg Uncertain significance Single submitter
- MMUT p.Gly670Val Uncertain significance Single submitter
- MMUT p.Gly87Val Uncertain significance Single submitter
-
MMUT p.His14Leu
Uncertain significance
Single submitter
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- MMUT p.His14Tyr Uncertain significance Single submitter
- MMUT p.His252Tyr Uncertain significance Single submitter
- MMUT p.His331Arg Uncertain significance Single submitter
- MMUT p.His350Asp Uncertain significance Single submitter
- MMUT p.His386Pro Uncertain significance Single submitter
- MMUT p.His678Asp Uncertain significance Single submitter
- MMUT p.Ile164Val Uncertain significance Single submitter
- MMUT p.Ile177Met Uncertain significance Single submitter
- MMUT p.Ile221Lys Uncertain significance Single submitter
- MMUT p.Ile232Leu Uncertain significance Single submitter
- MMUT p.Ile232Phe Uncertain significance Single submitter
- MMUT p.Ile372Val Uncertain significance Single submitter
-
MMUT p.Ile597Arg
Uncertain significance
Single submitter
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- MMUT p.Ile601Val Uncertain significance Single submitter
- MMUT p.Ile60Thr Uncertain significance Single submitter
- MMUT p.Ile697Phe Uncertain significance Single submitter
- MMUT p.Ile69Met Uncertain significance Single submitter
- MMUT p.Leu11Phe Uncertain significance Single submitter
- MMUT p.Leu11Pro Uncertain significance Single submitter
- MMUT p.Leu16Val Uncertain significance Single submitter
- MMUT p.Leu285Ser Uncertain significance Single submitter
-
MMUT p.Leu569Pro
Uncertain significance
Single submitter
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- MMUT p.Leu72Ser Uncertain significance Single submitter
- MMUT p.Leu81Ile Uncertain significance Single submitter
- MMUT p.Lys128Arg Uncertain significance Single submitter
- MMUT p.Lys171Asn Uncertain significance Single submitter
- MMUT p.Lys210Glu Uncertain significance Single submitter
- MMUT p.Lys444Glu Uncertain significance Single submitter
- MMUT p.Lys522Thr Uncertain significance Single submitter
- MMUT p.Lys687Arg Uncertain significance Single submitter
- MMUT p.Lys70Glu Uncertain significance Single submitter
- MMUT p.Lys746Asn Uncertain significance Single submitter
- MMUT p.Lys746Glu Uncertain significance Single submitter
- MMUT p.Met188Val Uncertain significance Single submitter
- MMUT p.Met226Ile Uncertain significance Single submitter
- MMUT p.Met700Thr Uncertain significance Single submitter
-
MMUT p.Met79Val
Uncertain significance
Single submitter
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- MMUT p.Phe122Leu Uncertain significance Single submitter
-
MMUT p.Phe199Val
Uncertain significance
Single submitter
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- MMUT p.Pro104Ser Uncertain significance Single submitter
-
MMUT p.Pro13Leu
Uncertain significance
Single submitter
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- MMUT p.Pro13Ser Uncertain significance Single submitter
- MMUT p.Pro234Ser Uncertain significance Single submitter
- MMUT p.Pro237Leu Uncertain significance Single submitter
- MMUT p.Pro38Ser Uncertain significance Single submitter
- MMUT p.Pro424Ser Uncertain significance Single submitter
- MMUT p.Pro683Ser Uncertain significance Single submitter
- MMUT p.Pro71Ser Uncertain significance Single submitter
- MMUT p.Pro86Ser Uncertain significance Single submitter
Predictors split 72
The independent predictors disagree with each other — read with care.
-
MMUT p.Ala536Val
Uncertain significance
Multiple submitters
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- MMUT p.Ala578Val Uncertain significance Multiple submitters
-
MMUT p.Arg228Gln
Pathogenic
Multiple submitters
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
-
MMUT p.Arg467Gln
Uncertain significance
Multiple submitters
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- MMUT p.Arg474Gln Uncertain significance Multiple submitters
- MMUT p.Arg511Gln Uncertain significance Multiple submitters
- MMUT p.Arg532Cys Uncertain significance Multiple submitters
-
MMUT p.Arg557Gln
Uncertain significance
Multiple submitters
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
-
MMUT p.Arg559Gly
Pathogenic/Likely pathogenic
Multiple submitters
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
-
MMUT p.Arg610Cys
Uncertain significance
Multiple submitters
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
-
MMUT p.Asn365Ser
Uncertain significance
Multiple submitters
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
-
MMUT p.Asp567Gly
Uncertain significance
Multiple submitters
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
-
MMUT p.Ile245Val
Uncertain significance
Multiple submitters
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
-
MMUT p.Ile261Val
Uncertain significance
Multiple submitters
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
-
MMUT p.Ile372Thr
Uncertain significance
Multiple submitters
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
-
MMUT p.Ile479Val
Uncertain significance
Multiple submitters
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
-
MMUT p.Pro64Leu
Uncertain significance
Multiple submitters
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
-
MMUT p.Pro695Leu
Uncertain significance
Multiple submitters
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
-
MMUT p.Pro95Leu
Uncertain significance
Multiple submitters
MMUT-related disorder
-
MMUT p.Ser288Pro
Pathogenic/Likely pathogenic
Multiple submitters
methylmalonic acidemia
-
MMUT p.Val136Ile
Uncertain significance
Multiple submitters
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- MMUT p.Ala191Ser Likely pathogenic Single submitter
- MMUT p.Ala422Thr Uncertain significance Single submitter
-
MMUT p.Ala473Ser
Conflicting
Single submitter
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- MMUT p.Ala541Ser Uncertain significance Single submitter
- MMUT p.Arg532Gly Benign Single submitter
- MMUT p.Arg532Leu Uncertain significance Single submitter
- MMUT p.Arg559Ser Likely pathogenic Single submitter
- MMUT p.Arg581Gln Uncertain significance Single submitter
-
MMUT p.Arg588Cys
Conflicting
Single submitter
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
-
MMUT p.Arg655Cys
Conflicting
Single submitter
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
-
MMUT p.Arg727Gln
Uncertain significance
Single submitter
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- MMUT p.Asn720Ile Uncertain significance Single submitter
- MMUT p.Gln131His Uncertain significance Single submitter
- MMUT p.Gln708Arg Uncertain significance Single submitter
- MMUT p.Glu204Lys Uncertain significance Single submitter
- MMUT p.Glu205Lys Pathogenic Single submitter
- MMUT p.Glu432Asp Conflicting Single submitter
- MMUT p.Gly637Arg Pathogenic Single submitter
- MMUT p.Gly648Ser Conflicting Single submitter
- MMUT p.Gly717Asp Likely pathogenic Single submitter
- MMUT p.Ile259Val Uncertain significance Single submitter
- MMUT p.Ile446Val Uncertain significance Single submitter
- MMUT p.Ile647Met Uncertain significance Single submitter
-
MMUT p.Leu305Phe
Likely pathogenic
Single submitter
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- MMUT p.Lys121Thr Uncertain significance Single submitter
- MMUT p.Lys251Asn Uncertain significance Single submitter
- MMUT p.Lys335Asn Uncertain significance Single submitter
- MMUT p.Lys520Thr Conflicting Single submitter
- MMUT p.Met317Val Uncertain significance Single submitter
- MMUT p.Met99Thr Pathogenic Single submitter
- MMUT p.Phe379Cys Uncertain significance Single submitter
- MMUT p.Phe390Leu Uncertain significance Single submitter
- MMUT p.Pro151Leu Uncertain significance Single submitter
- MMUT p.Pro649Ser Uncertain significance Single submitter
- MMUT p.Pro707Ser Uncertain significance Single submitter
- MMUT p.Ser416Ala Uncertain significance Single submitter
- MMUT p.Thr170Ile Uncertain significance Single submitter
- MMUT p.Thr249Ala Uncertain significance Single submitter
- MMUT p.Thr726Ser Uncertain significance Single submitter
-
MMUT p.Tyr364Cys
Likely benign
Single submitter
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
-
MMUT p.Tyr364Ser
Conflicting
Single submitter
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
-
MMUT p.Tyr429Cys
Conflicting
Single submitter
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- MMUT p.Val378Leu Uncertain significance Single submitter
-
MMUT p.Val489Ile
Uncertain significance
Single submitter
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- MMUT p.Val500Ala Uncertain significance Single submitter
- MMUT p.Val682Ala Uncertain significance Single submitter
-
MMUT p.Asp125Gly
Uncertain significance
No assertion criteria
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
-
MMUT p.Asp498Val
Uncertain significance
No assertion criteria
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
-
MMUT p.Leu549Val
Uncertain significance
No assertion criteria
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
-
MMUT p.Leu685Val
Uncertain significance
No assertion criteria
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
-
MMUT p.Lys52Arg
Uncertain significance
No assertion criteria
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
All MMUT variants
Pathogenic 202
- c.1083+2T>A Multiple submitters methylmalonic acidemia
- c.1332+1del Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- c.1444+1del Multiple submitters
- c.1560+1G>T Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- c.1677-1G>A Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- c.1957-2A>G Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- c.753+2T>A Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- c.754-1G>C Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- c.-39-1G>A Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Ala141fs Multiple submitters methylmalonic acidemia
- p.Ala191Glu Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Ala376fs Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Ala631fs Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Arg108Cys Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Arg108His Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Arg152Ter Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Arg228Gln Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency ⚠
- p.Arg228Ter Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Arg31Ter Multiple submitters MUT-related disorders
- p.Arg369Cys Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Arg369His Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Arg403Ter Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Arg467Ter Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Arg474Ter Multiple submitters Likely inborn error of metabolism
- p.Arg511Ter Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Arg581Ter Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Arg629Gly Multiple submitters methylmalonic acidemia
- p.Arg694Trp Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Arg727Ter Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Arg93His Multiple submitters methylmalonic acidemia
- p.Asn219fs Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Asn219Tyr Multiple submitters MUT-related disorders
- p.Asn341fs Multiple submitters methylmalonic acidemia
- p.Asn407fs Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Asp244fs Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Gln132Ter Multiple submitters methylmalonic acidemia
- p.Gln18Ter Multiple submitters methylmalonic acidemia
- p.Gln30Ter Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Gln35Ter Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Gln37Ter Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Gln589Ter Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Gln659Ter Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Gln734Ter Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Gln7Ter Multiple submitters methylmalonic acidemia
- p.Glu224Ter Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Glu414Ter Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Glu593Ter Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Glu688Ter Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Gly145Ser Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Gly203Arg Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Gly284Arg Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Gly284Ter Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Gly427Asp Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Gly544Ter Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Gly623Arg Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Gly717Val Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Gly94Val Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.His252fs Multiple submitters methylmalonic acidemia
- p.Ile200Thr Multiple submitters methylmalonic acidemia
- p.Ile67fs Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Leu305Ser Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Leu394fs Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Leu494Ter Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Lys121Ter Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Lys54Ter Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Met182fs Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Met1Thr Multiple submitters METHYLMALONIC ACIDURIA, mut(0) TYPE
- p.Phe307fs Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Phe308fs Multiple submitters methylmalonic acidemia
- p.Pro209_Lys210insTer Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Pro424Leu Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Pro615Leu Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Pro615Thr Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Ser342Ter Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Thr142Ala Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Thr387Ile Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Trp105Arg Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Trp105fs Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Trp309Ter Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Tyr110Ter Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Tyr429Ter Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Val19fs Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Val208fs Multiple submitters
- p.Val227fs Multiple submitters MUT-related disorders
- p.Val399fs Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Val553fs Multiple submitters methylmalonic acidemia
- c.1084-1G>A Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.1084-1G>C Single submitter
- c.1333-20_1333-9del Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.1445-1G>C Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.1560+1G>A Single submitter
- c.1677-1G>T Single submitter
- c.1677-2A>G Single submitter
- c.1956+1G>A Single submitter
- c.2125-3C>G Single submitter
- c.385+2T>C Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.385+5G>A Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.754-1G>A Single submitter
- p.Ala271fs Single submitter
- p.Ala349fs Single submitter
- p.Ala552Val Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Ala732fs Single submitter
- p.Arg108fs Single submitter
- p.Arg326Ter Single submitter
- p.Arg557Pro Single submitter
- p.Arg603Lys Single submitter ⚠
- p.Arg629fs Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Arg93Ser Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Asn126Lys Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Asn720fs Single submitter
- p.Asp139Asn Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Asp165Gly Single submitter
- p.Asp175delinsPhePhePhePhePhePheXaaXaaXaaXaaGlnCysGlyAspSerSerGlyIleTer Single submitter
- p.Asp580_Arg581delinsGluTer Single submitter
- p.Asp625Ala Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Asp625Gly Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Cys533Ter Single submitter
- p.Cys560fs Single submitter
- p.Gln383fs Single submitter
- p.Gln50Ter Single submitter
- p.Gln514Lys Single submitter
- p.Gln708Ter Single submitter
- p.Glu117Ter Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Glu205Lys Single submitter ⚠
- p.Glu211fs Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Glu268fs Single submitter
- p.Glu276Asp Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Glu276Ter Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Glu414fs Single submitter MUT-related disorders
- p.Glu448Ter Single submitter
- p.Glu451Ter Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Glu497Ter Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Glu564Ter Single submitter
- p.Glu711Ter Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Gly133Arg Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Gly133fs Single submitter
- p.Gly161Arg Single submitter
- p.Gly176Ter Single submitter
- p.Gly284Glu Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Gly310fs Single submitter Neonatal encephalopathy
- p.Gly312Val Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Gly381Arg Single submitter
- p.Gly426Glu Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Gly626fs Single submitter
- p.Gly637Arg Single submitter ⚠
- p.Gly648Asp Single submitter
- p.Gly677fs Single submitter
- p.Gly693fs Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Gly703Arg Single submitter
- p.His143fs Single submitter
- p.His627fs Single submitter
- p.His627Gln Single submitter
- p.His678fs Single submitter
- p.Ile172fs Single submitter
- p.Ile242fs Single submitter
- p.Ile298Thr Single submitter
- p.Ile411_Ile412del Single submitter
- p.Ile505fs Single submitter
- p.Leu11fs Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Leu281Ser Single submitter
- p.Leu33fs Single submitter
- p.Leu347Arg Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Leu443fs Single submitter
- p.Leu549fs Single submitter
- p.Leu618Pro Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Leu685_Ile686insLeu Single submitter methylmalonic acidemia
- p.Leu72fs Single submitter
- p.Lys49delinsThrTrpSerProValGlySerSerSerPheAlaValValTer Single submitter
- p.Lys570Ter Single submitter
- p.Met1Val Single submitter Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Met317fs Single submitter
- p.Met336fs Single submitter
- p.Met700fs Single submitter
- p.Met700Lys Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Met99Thr Single submitter ⚠
- p.Pro615fs Single submitter
- p.Pro86fs Single submitter
- p.Ser148Leu Single submitter
- p.Ser357fs Single submitter
- p.Ser357Ter Single submitter
- p.Ser428fs Single submitter
- p.Ser481fs Single submitter
- p.Ser524fs Single submitter
- p.Thr187Ser Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Thr230Ile Single submitter
- p.Thr435Ile Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Thr98Pro Single submitter
- p.Trp356Ter Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Trp425Ter Single submitter
- p.Trp43Ter Single submitter
- p.Tyr146Ter Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Tyr231Ter Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Tyr316fs Single submitter
- p.Val489fs Single submitter
- p.Val583Aspfs Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Val645fs Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Val733fs Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.1957-892C>A No assertion criteria METHYLMALONIC ACIDURIA, mut(0) TYPE
- p.Gln218Arg No assertion criteria methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Glu415Ter No assertion criteria methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Pro654_Arg655insTer No assertion criteria methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Thr230fs No assertion criteria METHYLMALONIC ACIDURIA, mut(-) TYPE
Pathogenic/Likely pathogenic 63
- c.1084-10A>G Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- c.1084-2A>G Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.1445-2A>G Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- c.1677-1G>C Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.1956+2T>C Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- c.2124+1G>A Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- c.753+1G>A Multiple submitters methylmalonic acidemia
- c.754-2A>G Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Ala324Thr Multiple submitters MMUT-related disorder
- p.Ala555Thr Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Ala676Thr Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Arg326Gly Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Arg326Lys Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Arg403Gln Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency ⚠
- p.Arg559Gly Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Arg616Cys Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Asn189Ile Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Asn189Lys Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Asn365fs Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Asn388His Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Asn388Lys Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Gln218His Multiple submitters MMUT-related disorder
- p.Gln624Arg Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Glu205del Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Glu432Ala Multiple submitters methylmalonic acidemia
- p.Gly133Ter Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Gly215Cys Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Gly215Ser Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Gly312Ter Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Gly426Arg Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Gly630Ala Multiple submitters
- p.Gly630Glu Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Gly642Arg Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Gly94Arg Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.His627Arg Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Ile412del Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Leu10fs Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Leu281fs Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Leu285fs Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Leu328Phe Multiple submitters methylmalonic acidemia
- p.Leu328Pro Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Leu347del Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Leu358Pro Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Leu736Phe Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Leu81fs Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Lys251Ter Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Met182Arg Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Phe174Ser Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Phe573Ser Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Pro194Leu Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Pro649fs Multiple submitters methylmalonic acidemia
- p.Pro86Leu Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Ser262Asn Multiple submitters methylmalonic acidemia
- p.Ser288Pro Multiple submitters methylmalonic acidemia ⚠
- p.Ser384fs Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Thr230Arg Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Thr370Pro Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Thr387Pro Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Trp329Ter Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Tyr100Cys Multiple submitters methylmalonic acidemia
- p.Tyr110Cys Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Tyr316Cys Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency ⚠
- p.Val136Phe Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
Likely pathogenic 130
- c.1957-899A>G Multiple submitters methylmalonic acidemia
- c.753+3A>G Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Ala137Gly Multiple submitters methylmalonic acidemia
- p.Ala141Glu Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Ala191Thr Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Ala377Glu Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Arg93Cys Multiple submitters Likely inborn error of metabolism
- p.Asp625Asn Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Glu360Ter Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Gly670Arg Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Gly723Asp Multiple submitters methylmalonic acidemia
- p.Leu134Ter Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Leu674Phe Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Lys124_Asp125insGlu Multiple submitters Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- c.1083+1G>A Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.1083+1G>T Single submitter
- c.1084-1_1084delinsTT Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.1332+1G>C Single submitter
- c.1333-8_1333-3del Single submitter
- c.1444+2T>G Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.1445-2A>T Single submitter
- c.1677-5_1690del Single submitter
- c.1792_1808+6del Single submitter
- c.1809-1G>C Single submitter
- c.1809-2A>T Single submitter
- c.385+1dup Single submitter Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- c.386-12_387del Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.386-1G>A Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.911+1G>C Single submitter Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- c.912-1G>A Single submitter
- c.912-2A>G Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Ala191Ser Single submitter ⚠
- p.Ala197Glu Single submitter
- p.Ala269Val Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Ala324Ser Single submitter ⚠
- p.Ala442Pro Single submitter
- p.Ala472Gly Single submitter
- p.Ala555Val Single submitter
- p.Ala558Val Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Arg108Gly Single submitter
- p.Arg108Leu Single submitter
- p.Arg326fs Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Arg403Gly Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Arg559Ser Single submitter ⚠
- p.Arg613Cys Single submitter
- p.Arg613Leu Single submitter
- p.Arg694Gln Single submitter
- p.Asn120Lys Single submitter
- p.Asn219Ser Single submitter
- p.Asn490fs Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Asp147Glu Single submitter Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Asp149Gly Single submitter
- p.Asp156Asn Single submitter
- p.Asp391fs Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Asp480fs Single submitter Abnormality of metabolism/homeostasis
- p.Asp625Glu Single submitter
- p.Cys533fs Single submitter Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Gln109Arg Single submitter Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Gln383Ter Single submitter Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Gln624Lys Single submitter
- p.Gln624Ter Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Glu21Ter Single submitter
- p.Glu236Ter Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Glu450Ter Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Glu531fs Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Glu575fs Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Gly145_Tyr146insTer Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Gly158Val Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Gly263Ter Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Gly381Val Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Gly427Ser Single submitter
- p.Gly453Arg Single submitter MMUT-related disorder
- p.Gly454Glu Single submitter Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Gly648Ala Single submitter
- p.Gly717Asp Single submitter ⚠
- p.Gly723Ser Single submitter
- p.Gly87Glu Single submitter Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.His143Tyr Single submitter Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.His265Tyr Single submitter
- p.His350Arg Single submitter
- p.His627Asp Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.His678Arg Single submitter methylmalonic acidemia
- p.Ile601fs Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Ile634fs Single submitter Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Ile705Arg Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Leu281Ter Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Leu305Phe Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Leu332Ter Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Leu674Val Single submitter
- p.Lys171Ter Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Lys255Ter Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Lys400Ter Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Lys457Ter Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Lys522Ter Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Phe337Leu Single submitter Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Pro464fs Single submitter Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Pro86Arg Single submitter
- p.Pro86Thr Single submitter
- p.Ser74fs Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Thr230Ala Single submitter
- p.Thr370Ala Single submitter
- p.Trp309Cys Single submitter
- p.Trp309Gly Single submitter
- p.Tyr15_Ile28delinsPheThrTer Single submitter MMUT-related disorder
- p.Tyr231Asn Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Tyr364Ter Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Tyr587Ser Single submitter
- p.Tyr587Ter Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Val116Met Single submitter methylmalonic acidemia
- p.Val153Ile Single submitter ⚠
- p.Val502fs Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Val510fs Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Val572fs Single submitter Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Val633Leu Single submitter
- p.Val666Met Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.1560+2T>C No assertion criteria methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.-39-2A>G No assertion criteria methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Ala528fs No assertion criteria methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Ala664fs No assertion criteria methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Arg3Ter No assertion criteria methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Asp149fs No assertion criteria methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Cys560Arg No assertion criteria methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Gln218Glu No assertion criteria methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Glu596fs No assertion criteria methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Gly703_Val704insTer No assertion criteria methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Ile298Asn No assertion criteria methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Lys444Ter No assertion criteria methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Ser262Ile No assertion criteria methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Thr370fs No assertion criteria methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Val368fs No assertion criteria methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Conflicting classifications of pathogenicity 46
- c.1333-8C>T Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.1808+15T>C Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.385+14G>A Single submitter
- c.912-13G>A Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.*278A>G Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Ala141Val Single submitter Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency ⚠
- p.Ala282= Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Ala320Val Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Ala472Val Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Ala473Ser Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Ala664Val Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Arg144Cys Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Arg304= Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Arg474Pro Single submitter methylmalonic acidemia ⚠
- p.Arg588Cys Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Arg616His Single submitter methylmalonic acidemia ⚠
- p.Arg655Cys Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Asn189Ser Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Asp156Val Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Gln131= Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Gln29= Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Gln293Arg Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Glu432Asp Single submitter ⚠
- p.Gly325Asp Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Gly648Ser Single submitter ⚠
- p.Ile505= Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Ile505Thr Single submitter ⚠
- p.Ile69Val Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Leu518Pro Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Lys520Thr Single submitter ⚠
- p.Met186Val Single submitter Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency ⚠
- p.Met336Ile Single submitter ⚠
- p.Met375Ile Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Met99Val Single submitter ⚠
- p.Pro56= Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Ser135Leu Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Ser306Phe Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Ser306Tyr Single submitter ⚠
- p.Ser543= Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Thr297Ile Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Thr387Lys Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Thr63= Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Tyr364Ser Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Tyr429Cys Single submitter Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency ⚠
- p.Val157Asp Single submitter ⚠
- p.Val633Gly Single submitter Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency ⚠
Benign 31
- c.1083+57C>T Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.1084-50A>G Multiple submitters
- c.1333-185A>G Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.1676+77A>C Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.1677-164A>T Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.912-110C>T Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.912-138C>T Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Arg532His Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Lys212= Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Pro237= Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.1084-15dup Single submitter
- c.1084-195A>G Single submitter
- c.1333-278A>G Single submitter
- c.1560+16_1560+17dup Single submitter
- c.1560+16dup Single submitter
- c.1561-282_1561-281del Single submitter
- c.1677-53A>G Single submitter
- c.1808+66C>G Single submitter
- c.1956+10del Single submitter
- c.1956+10dup Single submitter
- c.1957-982del Single submitter
- c.2124+9dup Single submitter
- c.386-247C>T Single submitter
- c.911+246C>G Single submitter
- c.-39-191A>G Single submitter
- c.*1326G>A Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.*201del Single submitter
- c.*201dup Single submitter
- c.*580A>G Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Ala732= Single submitter
- p.Arg532Gly Single submitter ⚠
Benign/Likely benign 8
- c.1083+20T>C Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.1333-18T>G Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.1444+13G>A Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.1956+17G>C Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.754-17dup Multiple submitters
- c.754-7del Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Ala499Thr Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Arg154His Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Likely benign 366
Showing the top 300 by review status; the full set is in the sitemap.
- c.1084-12C>T Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.1084-15T>C Multiple submitters
- c.1560+15C>T Multiple submitters
- c.1676+10T>C Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.2124+16A>G Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.385+65T>G Multiple submitters
- c.912-14C>T Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.-39-26T>A Multiple submitters
- c.*101G>A Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.*34A>G Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Ala504= Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Ala568= Multiple submitters
- p.Arg694= Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Asp646= Multiple submitters
- p.Glu318= Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Glu470= Multiple submitters
- p.Gly623= Multiple submitters
- p.His252= Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Lys121= Multiple submitters
- p.Pro41= Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Val682= Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.1083+10T>C Single submitter
- c.1083+20T>A Single submitter
- c.1083+20T>G Single submitter
- c.1083+50A>T Single submitter
- c.1083+7A>C Single submitter
- c.1084-11A>T Single submitter
- c.1084-14A>G Single submitter
- c.1084-217A>G Single submitter
- c.1332+14C>T Single submitter
- c.1332+18G>T Single submitter
- c.1332+19C>T Single submitter
- c.1333-15T>C Single submitter
- c.1333-16A>T Single submitter
- c.1333-17A>G Single submitter
- c.1333-290G>A Single submitter
- c.1333-319C>T Single submitter
- c.1333-6T>C Single submitter
- c.1333-7T>C Single submitter
- c.1333-8_1333-6del Single submitter
- c.1333-8C>A Single submitter
- c.1333-8C>G Single submitter
- c.1444+16A>C Single submitter
- c.1444+191G>T Single submitter
- c.1444+69A>G Single submitter
- c.1444+7T>C Single submitter
- c.1445-13G>T Single submitter
- c.1445-14T>C Single submitter
- c.1445-15T>C Single submitter
- c.1445-20T>C Single submitter
- c.1445-42G>A Single submitter
- c.1445-5A>G Single submitter
- c.1560+10G>A Single submitter
- c.1560+11C>G Single submitter
- c.1560+11C>T Single submitter
- c.1560+14G>A Single submitter
- c.1560+14G>C Single submitter
- c.1560+14G>T Single submitter
- c.1560+15del Single submitter
- c.1560+15dup Single submitter
- c.1560+20T>C Single submitter
- c.1560+31del Single submitter
- c.1561-10T>C Single submitter
- c.1561-12del Single submitter
- c.1561-13A>T Single submitter
- c.1561-175A>G Single submitter
- c.1561-17C>G Single submitter
- c.1561-19del Single submitter
- c.1561-4A>G Single submitter
- c.1561-7T>G Single submitter
- c.1676+14A>T Single submitter
- c.1676+8T>G Single submitter
- c.1677-13T>C Single submitter
- c.1677-14A>C Single submitter
- c.1677-18C>T Single submitter
- c.1677-19C>A Single submitter
- c.1677-20A>C Single submitter
- c.1677-20A>G Single submitter
- c.1677-30A>T Single submitter
- c.1677-7G>A Single submitter
- c.1677-8T>C Single submitter
- c.1808+10A>G Single submitter
- c.1808+164_1808+165del Single submitter
- c.1808+20A>G Single submitter
- c.1808+7T>C Single submitter
- c.1808+9T>C Single submitter
- c.1809-14T>A Single submitter
- c.1809-176C>T Single submitter
- c.1809-4T>C Single submitter
- c.1809-4T>G Single submitter
- c.1809-6T>A Single submitter
- c.1809-8T>G Single submitter
- c.1809-9G>A Single submitter
- c.1956+11C>G Single submitter
- c.1956+14T>C Single submitter
- c.1956+16G>T Single submitter
- c.1956+19G>A Single submitter
- c.1956+20G>A Single submitter
- c.1956+20G>T Single submitter
- c.1956+270G>A Single submitter
- c.1957-1150C>T Single submitter
- c.1957-5T>G Single submitter
- c.1957-654T>C Single submitter
- c.1957-6G>A Single submitter
- c.1957-6G>C Single submitter
- c.1957-7T>G Single submitter
- c.1957-899A>C Single submitter
- c.1957-921C>A Single submitter
- c.1957-998dup Single submitter
- c.1957-9A>G Single submitter
- c.1957-9A>T Single submitter
- c.2124+10A>G Single submitter
- c.2124+10dup Single submitter
- c.2124+12C>G Single submitter
- c.2124+7T>C Single submitter
- c.2124+9T>A Single submitter
- c.2125-10C>T Single submitter
- c.2125-12T>A Single submitter
- c.2125-14C>A Single submitter
- c.2125-14C>T Single submitter
- c.2125-15A>G Single submitter
- c.2125-17A>G Single submitter
- c.2125-218G>A Single submitter
- c.385+11A>C Single submitter
- c.385+184G>A Single submitter
- c.385+20C>T Single submitter
- c.385+314G>A Single submitter
- c.386-10A>G Single submitter
- c.386-12T>G Single submitter
- c.386-14C>A Single submitter
- c.386-19T>C Single submitter
- c.386-4T>G Single submitter
- c.386-7T>C Single submitter
- c.753+10G>A Single submitter
- c.753+13G>A Single submitter
- c.753+7T>C Single submitter
- c.753+9T>C Single submitter
- c.754-13T>C Single submitter
- c.754-14T>C Single submitter
- c.754-169C>A Single submitter
- c.754-16T>G Single submitter
- c.754-18A>T Single submitter
- c.754-19A>T Single submitter
- c.754-20C>A Single submitter
- c.754-4G>T Single submitter
- c.754-5T>C Single submitter
- c.754-7T>A Single submitter
- c.754-8T>C Single submitter
- c.911+16C>A Single submitter
- c.911+16C>G Single submitter
- c.911+16C>T Single submitter
- c.911+20A>G Single submitter
- c.911+7A>C Single submitter
- c.912-15A>T Single submitter
- c.912-15dup Single submitter
- c.912-19C>G Single submitter
- c.912-20A>G Single submitter
- c.912-20A>T Single submitter
- c.912-7A>G Single submitter
- c.912-8T>C Single submitter
- c.-16G>A Single submitter
- c.-39-314G>T Single submitter
- p.Ala111= Single submitter
- p.Ala141= Single submitter
- p.Ala163= Single submitter
- p.Ala191= Single submitter
- p.Ala302= Single submitter
- p.Ala330= Single submitter
- p.Ala371= Single submitter
- p.Ala377= Single submitter
- p.Ala402= Single submitter
- p.Ala441= Single submitter
- p.Ala442= Single submitter
- p.Ala472= Single submitter
- p.Ala473= Single submitter
- p.Ala536= Single submitter
- p.Ala550= Single submitter
- p.Ala555= Single submitter
- p.Ala578= Single submitter
- p.Ala586= Single submitter
- p.Ala635= Single submitter
- p.Ala661= Single submitter
- p.Ala664= Single submitter
- p.Ala675= Single submitter
- p.Ala731= Single submitter
- p.Arg17= Single submitter
- p.Arg26= Single submitter
- p.Arg289= Single submitter
- p.Arg478= Single submitter
- p.Arg511= Single submitter
- p.Arg513= Single submitter
- p.Arg557= Single submitter
- p.Arg581= Single submitter
- p.Arg613= Single submitter
- p.Arg614= Single submitter
- p.Arg629= Single submitter
- p.Arg727= Single submitter
- p.Asn150= Single submitter
- p.Asn229= Single submitter
- p.Asn341= Single submitter
- p.Asn366= Single submitter
- p.Asn388= Single submitter
- p.Asn436= Single submitter
- p.Asn547= Single submitter
- p.Asn579= Single submitter
- p.Asn720= Single submitter
- p.Asp169= Single submitter
- p.Asp272= Single submitter
- p.Asp299= Single submitter
- p.Asp498= Single submitter
- p.Asp58= Single submitter
- p.Asp628= Single submitter
- p.Asp644= Single submitter
- p.Asp665= Single submitter
- p.Asp709= Single submitter
- p.Cys533= Single submitter
- p.Gln109= Single submitter
- p.Gln132= Single submitter
- p.Gln338= Single submitter
- p.Gln36= Single submitter
- p.Gln413= Single submitter
- p.Gln748= Single submitter
- p.Glu205= Single submitter
- p.Glu276= Single submitter
- p.Glu334= Single submitter
- p.Glu373= Single submitter
- p.Glu450= Single submitter
- p.Glu461= Single submitter
- p.Glu495= Single submitter
- p.Glu497= Single submitter
- p.Glu564= Single submitter
- p.Glu590= Single submitter
- p.Glu611= Single submitter
- p.Glu684= Single submitter
- p.Glu688= Single submitter
- p.Gly112= Single submitter
- p.Gly133= Single submitter
- p.Gly145= Single submitter
- p.Gly161= Single submitter
- p.Gly190= Single submitter
- p.Gly207= Single submitter
- p.Gly215= Single submitter
- p.Gly270= Single submitter
- p.Gly312= Single submitter
- p.Gly325= Single submitter
- p.Gly381= Single submitter
- p.Gly417= Single submitter
- p.Gly426= Single submitter
- p.Gly563= Single submitter
- p.Gly626= Single submitter
- p.Gly648= Single submitter
- p.His34= Single submitter
- p.Ile107= Single submitter
- p.Ile217= Single submitter
- p.Ile221= Single submitter
- p.Ile242= Single submitter
- p.Ile367= Single submitter
- p.Ile404= Single submitter
- p.Ile411= Single submitter
- p.Ile521= Single submitter
- p.Ile548= Single submitter
- p.Ile601= Single submitter
- p.Ile67= Single submitter
- p.Ile671Val Single submitter
- p.Ile739= Single submitter
- p.Leu140= Single submitter
- p.Leu222= Single submitter
- p.Leu277= Single submitter
- p.Leu305= Single submitter
- p.Leu345= Single submitter
- p.Leu347= Single submitter
- p.Leu385= Single submitter
- p.Leu394= Single submitter
- p.Leu434= Single submitter
- p.Leu445= Single submitter
- p.Leu494= Single submitter
- p.Leu534= Single submitter
- p.Leu549= Single submitter
- p.Leu641= Single submitter
- p.Leu674= Single submitter
- p.Leu681= Single submitter
- p.Leu685= Single submitter
- p.Leu713= Single submitter
- p.Leu72= Single submitter
- p.Leu743= Single submitter
- p.Leu81= Single submitter
- p.Lys223= Single submitter
- p.Lys491= Single submitter
- p.Lys522Arg Single submitter
- p.Lys632= Single submitter
- p.Lys687= Single submitter
- p.Lys746= Single submitter
- p.Lys89= Single submitter
- p.Phe138= Single submitter
- p.Phe301= Single submitter
- p.Phe307= Single submitter
- p.Phe573= Single submitter
- p.Pro178= Single submitter
- p.Pro209= Single submitter
- p.Pro303= Single submitter
Uncertain significance 310
Showing the top 300 by review status; the full set is in the sitemap.
- c.1332+3A>C Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Ala320Thr Multiple submitters ⚠
- p.Ala536Val Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Ala578Val Multiple submitters ⚠
- p.Ala631Thr Multiple submitters ⚠
- p.Arg144His Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Arg467Gln Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Arg474Gln Multiple submitters ⚠
- p.Arg511Gln Multiple submitters ⚠
- p.Arg532Cys Multiple submitters ⚠
- p.Arg557Gln Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Arg557Trp Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Arg588Leu Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Arg610Cys Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Arg76Lys Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Asn120Ser Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Asn365Ser Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Asn507Asp Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Asp567Gly Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Asp696Ala Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Cys742Gly Multiple submitters ⚠
- p.Glu593Gln Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Gly544Arg Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.His605Arg Multiple submitters ⚠
- p.Ile200Val Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Ile241Val Multiple submitters ⚠
- p.Ile245Val Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Ile261Val Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Ile372Thr Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Ile479Val Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Leu494Met Multiple submitters ⚠
- p.Lys54Arg Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Met431Thr Multiple submitters ⚠
- p.Met452Lys Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Met622Thr Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Pro64Leu Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Pro695Leu Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Pro95Leu Multiple submitters MMUT-related disorder ⚠
- p.Ser523Cys Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Thr598Ala Multiple submitters ⚠
- p.Thr636Ala Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Thr63Ile Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Tyr248Cys Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Tyr279Cys Multiple submitters ⚠
- p.Val136Ile Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Val167Met Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Val421Met Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Val657Ala Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Val733Ile Multiple submitters methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- c.1083+4T>C Single submitter
- c.1444+6A>G Single submitter
- c.1676+3G>T Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.1957-3T>C Single submitter
- c.2124+4T>C Single submitter
- c.754-18A>G Single submitter
- c.911+5G>A Single submitter
- c.-135G>T Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.-35G>T Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.-47G>A Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.-78C>A Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.-79G>A Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.*103A>G Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.*1044T>A Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.*1182T>C Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.*1184T>C Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.*1214C>A Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.*1252T>C Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.*126A>G Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.*1319C>T Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.*200A>T Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.*257A>C Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.*281G>A Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.*43G>T Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.*445A>G Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.*465C>T Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.*466G>A Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.*558A>G Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.*627C>T Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.*636T>A Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.*691T>C Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.*775A>G Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- c.*986G>A Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Ala129Pro Single submitter ⚠
- p.Ala137Pro Single submitter ⚠
- p.Ala137Val Single submitter ⚠
- p.Ala141Gly Single submitter ⚠
- p.Ala191Val Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Ala269Thr Single submitter ⚠
- p.Ala371Val Single submitter ⚠
- p.Ala422Thr Single submitter ⚠
- p.Ala45Thr Single submitter ⚠
- p.Ala477Thr Single submitter ⚠
- p.Ala499Pro Single submitter ⚠
- p.Ala504Gly Single submitter ⚠
- p.Ala541Ser Single submitter ⚠
- p.Ala541Val Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Ala631Val Single submitter ⚠
- p.Ala661Asp Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Arg152Leu Single submitter ⚠
- p.Arg154Cys Single submitter ⚠
- p.Arg304Lys Single submitter ⚠
- p.Arg369Ser Single submitter ⚠
- p.Arg532Leu Single submitter ⚠
- p.Arg581Gln Single submitter ⚠
- p.Arg603Ser Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Arg613Ser Single submitter ⚠
- p.Arg727Gln Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Asn366Ser Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Asn388Asp Single submitter ⚠
- p.Asn447Asp Single submitter ⚠
- p.Asn490Asp Single submitter ⚠
- p.Asn720Ile Single submitter ⚠
- p.Asn720Ser Single submitter ⚠
- p.Asp125Glu Single submitter ⚠
- p.Asp149Glu Single submitter ⚠
- p.Asp149Val Single submitter ⚠
- p.Asp628Glu Single submitter ⚠
- p.Asp665Asn Single submitter ⚠
- p.Asp737Asn Single submitter ⚠
- p.Asp738del Single submitter
- p.Asp738Gly Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Cys433Arg Single submitter ⚠
- p.Gln131His Single submitter ⚠
- p.Gln132Leu Single submitter ⚠
- p.Gln18Arg Single submitter ⚠
- p.Gln267Arg Single submitter ⚠
- p.Gln293Pro Single submitter ⚠
- p.Gln35His Single submitter ⚠
- p.Gln383Arg Single submitter ⚠
- p.Gln413Arg Single submitter ⚠
- p.Gln493His Single submitter ⚠
- p.Gln493Leu Single submitter ⚠
- p.Gln50His Single submitter
- p.Gln659Arg Single submitter ⚠
- p.Gln708= Single submitter
- p.Gln708Arg Single submitter ⚠
- p.Gln734Arg Single submitter ⚠
- p.Gln734Pro Single submitter ⚠
- p.Glu204Lys Single submitter ⚠
- p.Glu224Lys Single submitter ⚠
- p.Glu276Gln Single submitter ⚠
- p.Glu334Lys Single submitter ⚠
- p.Glu373Gly Single submitter ⚠
- p.Glu414Asp Single submitter
- p.Glu415Val Single submitter ⚠
- p.Glu450Gly Single submitter ⚠
- p.Glu501Gln Single submitter ⚠
- p.Glu539Lys Single submitter ⚠
- p.Glu575Lys Single submitter ⚠
- p.Glu590Asp Single submitter ⚠
- p.Glu593Lys Single submitter ⚠
- p.Glu596Asp Single submitter ⚠
- p.Glu688Gly Single submitter ⚠
- p.Gly130Cys Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Gly133Glu Single submitter ⚠
- p.Gly133Val Single submitter ⚠
- p.Gly207Val Single submitter ⚠
- p.Gly380Arg Single submitter ⚠
- p.Gly427Val Single submitter
- p.Gly453Ser Single submitter ⚠
- p.Gly454Arg Single submitter ⚠
- p.Gly53_Lys54del Single submitter
- p.Gly623Val Single submitter ⚠
- p.Gly626Asp Single submitter ⚠
- p.Gly66Arg Single submitter ⚠
- p.Gly670Val Single submitter ⚠
- p.Gly87Val Single submitter ⚠
- p.His14Leu Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.His14Tyr Single submitter ⚠
- p.His252Tyr Single submitter ⚠
- p.His331Arg Single submitter ⚠
- p.His350Asp Single submitter ⚠
- p.His386Pro Single submitter ⚠
- p.His678Asp Single submitter ⚠
- p.Ile164Val Single submitter ⚠
- p.Ile177Met Single submitter ⚠
- p.Ile221Lys Single submitter ⚠
- p.Ile232_Pro234delinsLeuPheSer Single submitter
- p.Ile232Leu Single submitter ⚠
- p.Ile232Phe Single submitter ⚠
- p.Ile259Val Single submitter ⚠
- p.Ile372Val Single submitter ⚠
- p.Ile446Val Single submitter ⚠
- p.Ile597Arg Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Ile601Val Single submitter ⚠
- p.Ile60Thr Single submitter ⚠
- p.Ile647Met Single submitter ⚠
- p.Ile697Phe Single submitter ⚠
- p.Ile69Met Single submitter ⚠
- p.Leu11Phe Single submitter ⚠
- p.Leu11Pro Single submitter ⚠
- p.Leu16Val Single submitter ⚠
- p.Leu285Ser Single submitter ⚠
- p.Leu292= Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Leu569Pro Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Leu618del Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Leu72Ser Single submitter ⚠
- p.Leu81Ile Single submitter ⚠
- p.Lys121Thr Single submitter ⚠
- p.Lys128Arg Single submitter ⚠
- p.Lys171Asn Single submitter ⚠
- p.Lys210Glu Single submitter ⚠
- p.Lys251Asn Single submitter ⚠
- p.Lys335Asn Single submitter ⚠
- p.Lys444Glu Single submitter ⚠
- p.Lys520= Single submitter
- p.Lys522Thr Single submitter ⚠
- p.Lys570Glu Single submitter
- p.Lys687Arg Single submitter ⚠
- p.Lys70Glu Single submitter ⚠
- p.Lys746Asn Single submitter ⚠
- p.Lys746Glu Single submitter ⚠
- p.Met188Val Single submitter ⚠
- p.Met226Ile Single submitter ⚠
- p.Met317Val Single submitter ⚠
- p.Met431Ile Single submitter
- p.Met700Thr Single submitter ⚠
- p.Met79Val Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Phe122Leu Single submitter ⚠
- p.Phe199Val Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Phe379Cys Single submitter ⚠
- p.Phe390Leu Single submitter ⚠
- p.Pro104Ser Single submitter ⚠
- p.Pro13Leu Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Pro13Ser Single submitter ⚠
- p.Pro151Leu Single submitter ⚠
- p.Pro234Ser Single submitter ⚠
- p.Pro237Leu Single submitter ⚠
- p.Pro38Ser Single submitter ⚠
- p.Pro424Ser Single submitter ⚠
- p.Pro649Ser Single submitter ⚠
- p.Pro683Ser Single submitter ⚠
- p.Pro707Ser Single submitter ⚠
- p.Pro71Ser Single submitter ⚠
- p.Pro86Ser Single submitter ⚠
- p.Ser12Leu Single submitter ⚠
- p.Ser22Leu Single submitter ⚠
- p.Ser344Cys Single submitter ⚠
- p.Ser416Ala Single submitter ⚠
- p.Ser483Pro Single submitter ⚠
- p.Ser594Arg Single submitter
- p.Ser672Asn Single submitter ⚠
- p.Ser74Ala Single submitter ⚠
- p.Thr170Ile Single submitter ⚠
- p.Thr170Ser Single submitter ⚠
- p.Thr216Asn Single submitter ⚠
- p.Thr249Ala Single submitter ⚠
- p.Thr280Ala Single submitter ⚠
- p.Thr382Ala Single submitter ⚠
- p.Thr636Ile Single submitter ⚠
- p.Thr653Asn Single submitter ⚠
- p.Thr726Ser Single submitter ⚠
- p.Trp61Cys Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Tyr146Cys Single submitter ⚠
- p.Tyr439Asp Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Tyr587His Single submitter ⚠
- p.Val378Leu Single submitter ⚠
- p.Val487Ala Single submitter ⚠
- p.Val487Phe Single submitter ⚠
- p.Val489Ile Single submitter methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Val500Ala Single submitter ⚠
- p.Val682Ala Single submitter ⚠
- p.Val716Ile Single submitter ⚠
- p.Val721Ala Single submitter ⚠
- p.Val88Met Single submitter ⚠
- c.1084-9A>G No assertion criteria Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- c.1561-3T>C No assertion criteria Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- c.386-9T>C No assertion criteria Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- c.-2C>G No assertion criteria Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- c.*5C>T No assertion criteria Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Ala129Val No assertion criteria Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency ⚠
- p.Ala141Thr No assertion criteria methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Ala278Val No assertion criteria ⚠
- p.Ala349Thr No assertion criteria Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency ⚠
- p.Ala620= No assertion criteria Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- p.Asn229Ser No assertion criteria Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency ⚠
- p.Asn388Ser No assertion criteria Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency ⚠
- p.Asn407Tyr No assertion criteria methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Asp125Gly No assertion criteria Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency ⚠
- p.Asp139Ala No assertion criteria Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency ⚠
- p.Asp498Val No assertion criteria Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency ⚠
- p.Asp646fs No assertion criteria
- p.Cys560Tyr No assertion criteria methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Gln708His No assertion criteria Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency ⚠
- p.Glu224_Phe225insLeuGlu No assertion criteria methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Glu360Gly No assertion criteria ⚠
- p.Glu495Gln No assertion criteria Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency ⚠
- p.Glu516Asp No assertion criteria Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency ⚠
- p.Glu744Lys No assertion criteria Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency ⚠
- p.Gly190Arg No assertion criteria Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency ⚠
- p.Gly24Ser No assertion criteria Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency ⚠
- p.His386Asn No assertion criteria methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Ile521Val No assertion criteria Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency ⚠
- p.Leu305_Ser306del No assertion criteria methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- p.Leu347Val No assertion criteria Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency ⚠
- p.Leu549Val No assertion criteria Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency ⚠
- p.Leu617Arg No assertion criteria methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ⚠
- p.Leu685Val No assertion criteria Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency ⚠
- p.Lys52Arg No assertion criteria Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency ⚠
- p.Lys75Asn No assertion criteria Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency ⚠