Gene: PMM2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338708
rs80338708
PMM2 ; LOC100130283
G 0.800 CausalMutation CLINVAR A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation. 25355454

2015
dbSNP: rs80338709
rs80338709
PMM2 ; LOC100130283
C 0.800 CausalMutation CLINVAR A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation. 25355454

2015
dbSNP: rs80338709
rs80338709
PMM2 ; LOC100130283
C 0.800 CausalMutation CLINVAR The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein. 26014514

2015
dbSNP: rs141498002
rs141498002
PMM2
A 0.800 CausalMutation CLINVAR 29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype. 25497157

2014
dbSNP: rs150577656
rs150577656
PMM2
C 0.800 GeneticVariation CLINVAR 29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype. 25497157

2014
dbSNP: rs200503569
rs200503569
PMM2
T 0.800 GeneticVariation CLINVAR 29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype. 25497157

2014
dbSNP: rs769648248
rs769648248
PMM2
T 0.800 GeneticVariation CLINVAR Retinal on-pathway deficit in congenital disorder of glycosylation due to phosphomannomutase deficiency. 22801829

2012
dbSNP: rs104894526
rs104894526
PMM2
T 0.800 GeneticVariation CLINVAR Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations. 21541725

2011
dbSNP: rs104894527
rs104894527
PMM2
T 0.800 CausalMutation CLINVAR Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations. 21541725

2011
dbSNP: rs104894534
rs104894534
PMM2
C 0.800 GeneticVariation CLINVAR Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations. 21541725

2011
dbSNP: rs141498002
rs141498002
PMM2
A 0.800 CausalMutation CLINVAR Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations. 21541725

2011
dbSNP: rs148032587
rs148032587
PMM2
A 0.800 GeneticVariation CLINVAR Phosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts. 21949237

2011
dbSNP: rs150577656
rs150577656
PMM2
C 0.800 GeneticVariation CLINVAR Phosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts. 21949237

2011
dbSNP: rs150719105
rs150719105
PMM2
C 0.800 GeneticVariation CLINVAR Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398

2011
dbSNP: rs398123312
rs398123312
PMM2
GC 0.800 CausalMutation CLINVAR Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations. 21541725

2011
dbSNP: rs80338700
rs80338700
PMM2
T 0.800 CausalMutation CLINVAR Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations. 21541725

2011
dbSNP: rs80338709
rs80338709
PMM2 ; LOC100130283
C 0.800 CausalMutation CLINVAR Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations. 21541725

2011
dbSNP: rs80338704
rs80338704
PMM2
G 0.800 GeneticVariation CLINVAR Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia. 18571450

2008
dbSNP: rs104894527
rs104894527
PMM2
T 0.800 CausalMutation CLINVAR Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2. 17166182

2007
dbSNP: rs141498002
rs141498002
PMM2
A 0.800 CausalMutation CLINVAR Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2. 17166182

2007
dbSNP: rs398123312
rs398123312
PMM2
GC 0.800 CausalMutation CLINVAR Congenital disorder of glycosylation type 1a: three siblings with a mild neurological phenotype. 17451957

2007
dbSNP: rs80338708
rs80338708
PMM2 ; LOC100130283
G 0.800 GeneticVariation CLINVAR Carbohydrate-deficient transferrin (CDT) as a biochemical tool for the screening of congenital disorders of glycosylation (CDGs). 17920054

2007
dbSNP: rs80338709
rs80338709
PMM2 ; LOC100130283
C 0.800 CausalMutation CLINVAR Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype). 17186415

2007
dbSNP: rs80338709
rs80338709
PMM2 ; LOC100130283
C 0.800 CausalMutation CLINVAR Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2. 17166182

2007
dbSNP: rs104894527
rs104894527
PMM2
T 0.800 CausalMutation CLINVAR PMM2 intronic branch-site mutations in CDG-Ia. 16376131

2006