Gene: PMM2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338701
rs80338701
PMM2
A 0.820 CausalMutation CLINVAR Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation. 24498599

2013
dbSNP: rs80338703
rs80338703
PMM2
A 0.820 GeneticVariation CLINVAR An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers. 16825284

2006
dbSNP: rs80338703
rs80338703
PMM2
A 0.820 GeneticVariation CLINVAR Haplotype studies revealed a founder effect for E139K mutation, only described in France and found in seven CDG-Ia families (7.6%). 15844218

2005
dbSNP: rs80338701
rs80338701
PMM2
A 0.820 CausalMutation CLINVAR Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype. 11517108

2001
dbSNP: rs80338701
rs80338701
PMM2
A 0.820 CausalMutation CLINVAR Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia). 11058895

2000
dbSNP: rs80338701
rs80338701
PMM2
A 0.820 CausalMutation CLINVAR We have identified the PMM2 genotypes of 22 unrelated Danish patients with carbohydrate-deficient glycoprotein syndrome type 1A: R141H/F119L (18), R141H/C192G (1), F119L/F119L (1), F119L/G117R (1) and D223E/T237R (1). 10602363

1999
dbSNP: rs80338703
rs80338703
PMM2
A 0.820 GeneticVariation CLINVAR Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping. 10571956

1999
dbSNP: rs80338701
rs80338701
PMM2
A 0.820 CausalMutation CLINVAR Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1. 9781039

1998
dbSNP: rs80338701
rs80338701
PMM2
A 0.820 CausalMutation CLINVAR Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). 9140401

1997
dbSNP: rs80338703
rs80338703
PMM2
A 0.820 CausalMutation CLINVAR

dbSNP: rs78290141
rs78290141
PMM2 ; LOC100130283
T 0.810 CausalMutation CLINVAR

dbSNP: rs150719105
rs150719105
PMM2
C 0.800 GeneticVariation CLINVAR Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II. 28122681

2017
dbSNP: rs150719105
rs150719105
PMM2
C 0.800 GeneticVariation CLINVAR Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation. 26805780

2016
dbSNP: rs80338707
rs80338707
PMM2 ; LOC100130283
A 0.800 CausalMutation CLINVAR Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG). 27415628

2016
dbSNP: rs80338708
rs80338708
PMM2 ; LOC100130283
G 0.800 CausalMutation CLINVAR Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG). 27415628

2016
dbSNP: rs104894525
rs104894525
PMM2
A 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: rs104894534
rs104894534
PMM2
C 0.800 GeneticVariation 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 A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation. 25355454

2015
dbSNP: rs141498002
rs141498002
PMM2
A 0.800 CausalMutation CLINVAR The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein. 26014514

2015
dbSNP: rs150719105
rs150719105
PMM2
C 0.800 GeneticVariation CLINVAR GESPA: classifying nsSNPs to predict disease association. 26206375

2015
dbSNP: rs200503569
rs200503569
PMM2
T 0.800 GeneticVariation CLINVAR A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation. 25355454

2015
dbSNP: rs398123312
rs398123312
PMM2
GC 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: rs746610168
rs746610168
PMM2
T 0.800 GeneticVariation CLINVAR GESPA: classifying nsSNPs to predict disease association. 26206375

2015
dbSNP: rs80338700
rs80338700
PMM2
T 0.800 CausalMutation CLINVAR The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein. 26014514

2015
dbSNP: rs80338708
rs80338708
PMM2 ; LOC100130283
G 0.800 GeneticVariation CLINVAR A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation. 25355454

2015