Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918256
rs121918256
MMUT
0.720 GeneticVariation BEFREE The detection of the novel c.481G>A (p.Gly161Arg) and the known c.655A>T (p.Asn219Tyr) MUT gene mutations identified the first patient as affected by methylmalonic acidaemia mut type. 19588269

2009
dbSNP: rs121918256
rs121918256
MMUT
A 0.720 CausalMutation CLINVAR Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations. 17113806

2007
dbSNP: rs121918256
rs121918256
MMUT
A 0.720 CausalMutation CLINVAR Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. 16281286

2006
dbSNP: rs121918256
rs121918256
MMUT
0.720 GeneticVariation BEFREE N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients. 11528502

2001
dbSNP: rs104893851
rs104893851
MMAA
T 0.700 CausalMutation CLINVAR Targeted exome sequencing for the identification of complementation groups in methylmalonic aciduria: A south Indian experience. 27591164

2017
dbSNP: rs1028877309
rs1028877309
MMUT
T 0.700 GeneticVariation CLINVAR Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations. 27233228

2016
dbSNP: rs121918251
rs121918251
MMUT
T 0.700 CausalMutation CLINVAR Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia. 26615597

2016
dbSNP: rs121918252
rs121918252
MMUT
A 0.700 CausalMutation CLINVAR Neutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients with mut Methylmalonic Acidemia. 26790480

2016
dbSNP: rs398123278
rs398123278
MMUT
A 0.700 CausalMutation CLINVAR Neutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients with mut Methylmalonic Acidemia. 26790480

2016
dbSNP: rs763935916
rs763935916
MMAB
A 0.700 CausalMutation CLINVAR Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014). 26589311

2016
dbSNP: rs774159791
rs774159791
MMUT
A 0.700 CausalMutation CLINVAR Neutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients with mut Methylmalonic Acidemia. 26790480

2016
dbSNP: rs777758903
rs777758903
MMUT
A 0.700 CausalMutation CLINVAR Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia. 26615597

2016
dbSNP: rs104893851
rs104893851
MMAA
T 0.700 CausalMutation CLINVAR Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia. 26370686

2015
dbSNP: rs746085723
rs746085723
MMUT
T 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs753288303
rs753288303
MMUT
T 0.700 CausalMutation CLINVAR Mutation analysis of methylmalonyl CoA mutase gene exon 2 in Egyptian families: Identification of 25 novel allelic variants. 25750861

2015
dbSNP: rs756195708
rs756195708
MMAB
T 0.700 GeneticVariation CLINVAR Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies. 24813872

2015
dbSNP: rs757548934
rs757548934
MMAA
T 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs757548934
rs757548934
MMAA
T 0.700 CausalMutation CLINVAR [Acute encephalopathy induced by vaccination in an infant with methylmalonic aciduria cblA]. 25748407

2015
dbSNP: rs770466993
rs770466993
MMUT
T 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs774159791
rs774159791
MMUT
A 0.700 CausalMutation CLINVAR Treatment of methylmalonic acidemia by liver or combined liver-kidney transplantation. 25771389

2015
dbSNP: rs780283588
rs780283588
MMUT
CAA 0.700 CausalMutation CLINVAR Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants. 26454439

2015
dbSNP: rs753288303
rs753288303
MMUT
T 0.700 CausalMutation CLINVAR Mutation analysis and prenatal diagnosis for three families affected by isolated methylmalonic aciduria. 25299208

2014
dbSNP: rs104893851
rs104893851
MMAA
T 0.700 CausalMutation CLINVAR Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: a 42-year follow-up. 24095221

2013
dbSNP: rs369296618
rs369296618
MMAB
A 0.700 CausalMutation CLINVAR Neurocognitive phenotype of isolated methylmalonic acidemia. 22614770

2012
dbSNP: rs757548934
rs757548934
MMAA
T 0.700 CausalMutation CLINVAR High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria. 23026888

2012