Gene: MEN1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060499991
rs1060499991
MEN1 ; MAP4K2
T 0.710 CausalMutation CLINVAR The different ages of disease presentation and the heterogeneity of symptoms among carriers of the Trp471Stop mutation, which would lead to the synthesis of a truncated non-functional protein, suggest that clinical heterogeneity is a characteristic of MEN1 independent of the type of mutation. 10435055

1999
dbSNP: rs1060499991
rs1060499991
MEN1 ; MAP4K2
T 0.710 CausalMutation CLINVAR Germline mutations in the multiple endocrine neoplasia type 1 gene: evidence for frequent splicing defects. 10090472

1999
dbSNP: rs1060499991
rs1060499991
MEN1 ; MAP4K2
T 0.710 CausalMutation CLINVAR Tumor suppressor menin: the essential role of nuclear localization signal domains in coordinating gene expression. 16449969

2006
dbSNP: rs1060499991
rs1060499991
MEN1 ; MAP4K2
T 0.710 CausalMutation CLINVAR Direct binding of DNA by tumor suppressor menin. 15331604

2004
dbSNP: rs1060499991
rs1060499991
MEN1 ; MAP4K2
T 0.710 CausalMutation CLINVAR Novel mutations in MEN1, CDKN1B and AIP genes in patients with multiple endocrine neoplasia type 1 syndrome in Spain. 22026581

2012
dbSNP: rs104894257
rs104894257
MEN1
T 0.700 CausalMutation CLINVAR Positional cloning of the gene for multiple endocrine neoplasia-type 1. 9103196

1997
dbSNP: rs104894257
rs104894257
MEN1
T 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: rs104894258
rs104894258
MEN1
T 0.700 CausalMutation CLINVAR

dbSNP: rs104894260
rs104894260
MEN1 ; MAP4K2
T 0.700 CausalMutation CLINVAR

dbSNP: rs104894265
rs104894265
MEN1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060499976
rs1060499976
MEN1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060499987
rs1060499987
MEN1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060499990
rs1060499990
MEN1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060503789
rs1060503789
MEN1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1114167482
rs1114167482
MEN1
T 0.700 CausalMutation CLINVAR Novel mutations in MEN1, CDKN1B and AIP genes in patients with multiple endocrine neoplasia type 1 syndrome in Spain. 22026581

2012
dbSNP: rs1114167482
rs1114167482
MEN1
T 0.700 CausalMutation CLINVAR Characterization of mutations in patients with multiple endocrine neoplasia type 1. 9463336

1998
dbSNP: rs1114167482
rs1114167482
MEN1
T 0.700 CausalMutation CLINVAR Genetic and clinical analysis in 10 Spanish patients with multiple endocrine neoplasia type 1. 10439966

1999
dbSNP: rs1114167489
rs1114167489
MEN1
T 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: rs1114167489
rs1114167489
MEN1
T 0.700 CausalMutation CLINVAR Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein. 12112656

2002
dbSNP: rs1114167489
rs1114167489
MEN1
T 0.700 CausalMutation CLINVAR Pituitary disease in MEN type 1 (MEN1): data from the France-Belgium MEN1 multicenter study. 11836268

2002
dbSNP: rs1555164870
rs1555164870
MEN1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555165756
rs1555165756
MEN1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555166365
rs1555166365
MEN1
T 0.700 CausalMutation CLINVAR Efficient mutation detection in MEN1 gene using a combination of single-strand conformation polymorphism (MDGA) and heteroduplex analysis. 12652570

2003
dbSNP: rs1555166365
rs1555166365
MEN1
T 0.700 CausalMutation CLINVAR Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein. 12112656

2002
dbSNP: rs1555166365
rs1555166365
MEN1
T 0.700 CausalMutation CLINVAR Genetic and epigenetic analysis in korean patients with multiple endocrine neoplasia type 1. 25309785

2014