Gene: MEN1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894256
rs104894256
MEN1
C 0.800 CausalMutation CLINVAR

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: rs104894259
rs104894259
MEN1 ; MAP4K2
T 0.800 CausalMutation CLINVAR

dbSNP: rs104894260
rs104894260
MEN1 ; MAP4K2
T 0.700 CausalMutation CLINVAR

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: rs104894263
rs104894263
MEN1
C 0.810 CausalMutation CLINVAR

dbSNP: rs104894264
rs104894264
MEN1 ; MAP4K2
T 0.800 CausalMutation CLINVAR Clinical features of multiple endocrine neoplasia type 1 (MEN1) phenocopy without germline MEN1 gene mutations: analysis of 20 Japanese sporadic cases with MEN1. 10762295

2000
dbSNP: rs104894264
rs104894264
MEN1 ; MAP4K2
T 0.800 CausalMutation CLINVAR Pituitary disease in MEN type 1 (MEN1): data from the France-Belgium MEN1 multicenter study. 11836268

2002
dbSNP: rs104894264
rs104894264
MEN1 ; MAP4K2
T 0.800 CausalMutation CLINVAR Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1. 12050235

2002
dbSNP: rs104894264
rs104894264
MEN1 ; MAP4K2
T 0.800 CausalMutation CLINVAR Founder effect in multiple endocrine neoplasia type 1 (MEN 1) in Finland. 11303512

2001
dbSNP: rs104894264
rs104894264
MEN1 ; MAP4K2
T 0.800 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: rs104894264
rs104894264
MEN1 ; MAP4K2
T 0.800 CausalMutation CLINVAR Multiple endocrine neoplasia type 1 in Northern Finland; clinical features and genotype phenotype correlation. 17766710

2007
dbSNP: rs104894264
rs104894264
MEN1 ; MAP4K2
T 0.800 CausalMutation CLINVAR Efficient mutation detection in MEN1 gene using a combination of single-strand conformation polymorphism (MDGA) and heteroduplex analysis. 12652570

2003
dbSNP: rs104894264
rs104894264
MEN1 ; MAP4K2
T 0.800 CausalMutation CLINVAR Characterization of mutations in patients with multiple endocrine neoplasia type 1. 9463336

1998
dbSNP: rs104894264
rs104894264
MEN1 ; MAP4K2
T 0.800 CausalMutation CLINVAR Correlation of mutant menin stability with clinical expression of multiple endocrine neoplasia type 1 and its incomplete forms. 21819486

2011
dbSNP: rs104894264
rs104894264
MEN1 ; MAP4K2
T 0.800 CausalMutation CLINVAR Menin missense mutants associated with multiple endocrine neoplasia type 1 are rapidly degraded via the ubiquitin-proteasome pathway. 15254225

2004
dbSNP: rs104894265
rs104894265
MEN1
T 0.700 CausalMutation CLINVAR

dbSNP: rs104894266
rs104894266
MEN1
A 0.700 CausalMutation CLINVAR