Gene: MEN1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398124435
rs398124435
MEN1 ; MAP4K2
A 0.800 GeneticVariation CLINVAR Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory. 15714081

2005
dbSNP: rs398124435
rs398124435
MEN1 ; MAP4K2
A 0.800 GeneticVariation CLINVAR The tumor suppressor protein menin inhibits AKT activation by regulating its cellular localization. 21127195

2011
dbSNP: rs398124435
rs398124435
MEN1 ; MAP4K2
A 0.800 GeneticVariation CLINVAR Menin missense mutants encoded by the MEN1 gene that are targeted to the proteasome: restoration of expression and activity by CHIP siRNA. 22090276

2012
dbSNP: rs398124435
rs398124435
MEN1 ; MAP4K2
A 0.800 GeneticVariation CLINVAR Correlation of mutant menin stability with clinical expression of multiple endocrine neoplasia type 1 and its incomplete forms. 21819486

2011
dbSNP: rs398124435
rs398124435
MEN1 ; MAP4K2
A 0.800 GeneticVariation CLINVAR Positional cloning of the gene for multiple endocrine neoplasia-type 1. 9103196

1997
dbSNP: rs794728614
rs794728614
MEN1
A 0.800 GeneticVariation CLINVAR

dbSNP: rs386134250
rs386134250
MEN1
A 0.710 GeneticVariation CLINVAR UMD (Universal mutation database): a generic software to build and analyze locus-specific databases. 10612827

2000
dbSNP: rs386134250
rs386134250
MEN1
A 0.710 CausalMutation CLINVAR

dbSNP: rs386134250
rs386134250
MEN1
A 0.710 GeneticVariation CLINVAR Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory. 15714081

2005
dbSNP: rs386134250
rs386134250
MEN1
A 0.710 GeneticVariation CLINVAR A patient with novel mutations causing MEN1 and hereditary multiple osteochondroma. 26515642

2015
dbSNP: rs794728615
rs794728615
MEN1
A 0.710 CausalMutation CLINVAR Novel association of thymic carcinoid with a germline mutation in a kindred with multiple endocrine neoplasia 1 (MEN1). 22549346

2012
dbSNP: rs794728615
rs794728615
MEN1
A 0.710 CausalMutation CLINVAR Identification of five novel germline mutations of the MEN1 gene in Japanese multiple endocrine neoplasia type 1 (MEN1) families. 9832038

1998
dbSNP: rs794728615
rs794728615
MEN1
A 0.710 CausalMutation CLINVAR We identified a novel nonsense mutation(R29X) of the MEN1 gene in a familial multiple endocrine neoplasia type 1 (MEN1) patient. 10395246

1998
dbSNP: rs794728615
rs794728615
MEN1
A 0.710 CausalMutation CLINVAR p.Ala541Thr variant of MEN1 gene: a non deleterious polymorphism or a pathogenic mutation? 24997771

2014
dbSNP: rs104894261
rs104894261
MEN1 ; MAP4K2
A 0.700 CausalMutation CLINVAR Tumor suppressor menin: the essential role of nuclear localization signal domains in coordinating gene expression. 16449969

2006
dbSNP: rs104894261
rs104894261
MEN1 ; MAP4K2
A 0.700 CausalMutation CLINVAR Prospective controlled trial of a standardized meal stimulation test in the detection of pancreaticoduodenal endocrine tumours in patients with multiple endocrine neoplasia type 1. 11578300

2001
dbSNP: rs104894261
rs104894261
MEN1 ; MAP4K2
A 0.700 CausalMutation CLINVAR Direct binding of DNA by tumor suppressor menin. 15331604

2004
dbSNP: rs104894261
rs104894261
MEN1 ; MAP4K2
A 0.700 CausalMutation CLINVAR Positional cloning of the gene for multiple endocrine neoplasia-type 1. 9103196

1997
dbSNP: rs104894261
rs104894261
MEN1 ; MAP4K2
A 0.700 CausalMutation CLINVAR Ectopic Cushing syndrome associated with thymic carcinoid tumor as the first presentation of MEN1 syndrome-report of a family with MEN1 gene mutation. 24218143

2014
dbSNP: rs104894261
rs104894261
MEN1 ; MAP4K2
A 0.700 CausalMutation CLINVAR Developing effective screening strategies in multiple endocrine neoplasia type 1 (MEN 1) on the basis of clinical and sequencing data of German patients with MEN 1. 17853334

2007
dbSNP: rs104894266
rs104894266
MEN1
A 0.700 CausalMutation CLINVAR

dbSNP: rs104894267
rs104894267
MEN1 ; MAP4K2
A 0.700 CausalMutation CLINVAR Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene. 17879353

2008
dbSNP: rs104894267
rs104894267
MEN1 ; MAP4K2
A 0.700 CausalMutation CLINVAR Direct binding of DNA by tumor suppressor menin. 15331604

2004
dbSNP: rs104894267
rs104894267
MEN1 ; MAP4K2
A 0.700 CausalMutation CLINVAR Tumor suppressor menin: the essential role of nuclear localization signal domains in coordinating gene expression. 16449969

2006
dbSNP: rs104894267
rs104894267
MEN1 ; MAP4K2
A 0.700 CausalMutation CLINVAR Correlation of mutant menin stability with clinical expression of multiple endocrine neoplasia type 1 and its incomplete forms. 21819486

2011