Gene: PMM2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28936415
rs28936415
PMM2
A 0.700 CausalMutation CLINVAR Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2. 28373276

2017
dbSNP: rs28936415
rs28936415
PMM2
A 0.700 CausalMutation CLINVAR Three families with mild PMM2-CDG and normal cognitive development. 28425223

2017
dbSNP: rs760265100
rs760265100
PMM2 ; TMEM186
G 0.700 GeneticVariation CLINVAR Three families with mild PMM2-CDG and normal cognitive development. 28425223

2017
dbSNP: rs760265100
rs760265100
PMM2 ; TMEM186
G 0.700 GeneticVariation CLINVAR Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2. 28373276

2017
dbSNP: rs80338708
rs80338708
PMM2 ; LOC100130283
T 0.700 CausalMutation CLINVAR Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2. 28373276

2017
dbSNP: rs80338708
rs80338708
PMM2 ; LOC100130283
T 0.700 CausalMutation CLINVAR Three families with mild PMM2-CDG and normal cognitive development. 28425223

2017
dbSNP: rs28936415
rs28936415
PMM2
A 0.700 CausalMutation CLINVAR Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation. 26805780

2016
dbSNP: rs760265100
rs760265100
PMM2 ; TMEM186
G 0.700 GeneticVariation CLINVAR Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation. 26805780

2016
dbSNP: rs80338708
rs80338708
PMM2 ; LOC100130283
T 0.700 CausalMutation CLINVAR Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation. 26805780

2016
dbSNP: rs28936415
rs28936415
PMM2
A 0.700 CausalMutation CLINVAR Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2. 26488408

2015
dbSNP: rs28936415
rs28936415
PMM2
A 0.700 CausalMutation CLINVAR The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein. 26014514

2015
dbSNP: rs760265100
rs760265100
PMM2 ; TMEM186
G 0.700 GeneticVariation CLINVAR The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein. 26014514

2015
dbSNP: rs760265100
rs760265100
PMM2 ; TMEM186
G 0.700 GeneticVariation CLINVAR Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2. 26488408

2015
dbSNP: rs80338708
rs80338708
PMM2 ; LOC100130283
T 0.700 CausalMutation CLINVAR Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2. 26488408

2015
dbSNP: rs80338708
rs80338708
PMM2 ; LOC100130283
T 0.700 CausalMutation CLINVAR The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein. 26014514

2015
dbSNP: rs28936415
rs28936415
PMM2
A 0.700 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: rs760265100
rs760265100
PMM2 ; TMEM186
G 0.700 GeneticVariation 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: rs80338708
rs80338708
PMM2 ; LOC100130283
T 0.700 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: rs28936415
rs28936415
PMM2
A 0.700 CausalMutation CLINVAR A new insight into PMM2 mutations in the French population. 15844218

2005
dbSNP: rs760265100
rs760265100
PMM2 ; TMEM186
G 0.700 GeneticVariation CLINVAR A new insight into PMM2 mutations in the French population. 15844218

2005
dbSNP: rs80338708
rs80338708
PMM2 ; LOC100130283
T 0.700 CausalMutation CLINVAR A new insight into PMM2 mutations in the French population. 15844218

2005
dbSNP: rs28936415
rs28936415
PMM2
A 0.700 CausalMutation CLINVAR Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling. 11343337

2001
dbSNP: rs760265100
rs760265100
PMM2 ; TMEM186
G 0.700 GeneticVariation CLINVAR Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling. 11343337

2001
dbSNP: rs80338708
rs80338708
PMM2 ; LOC100130283
T 0.700 CausalMutation CLINVAR Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling. 11343337

2001
dbSNP: rs28936415
rs28936415
PMM2
A 0.700 CausalMutation CLINVAR Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia). 10854097

2000