Gene: MEN1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs376872829
rs376872829
MEN1
G 0.800 GeneticVariation CLINVAR Differential binding of the Menin tumor suppressor protein to JunD isoforms. 11221882

2001
dbSNP: rs386134256
rs386134256
MEN1
G 0.800 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: 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: rs376872829
rs376872829
MEN1
G 0.800 GeneticVariation CLINVAR Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription. 9989505

1999
dbSNP: rs104894264
rs104894264
MEN1 ; MAP4K2
T 0.800 CausalMutation CLINVAR Characterization of mutations in patients with multiple endocrine neoplasia type 1. 9463336

1998
dbSNP: rs386134256
rs386134256
MEN1
G 0.800 CausalMutation CLINVAR MEN1 gene mutations in 12 MEN1 families and their associated tumors. 9820618

1998
dbSNP: rs376872829
rs376872829
MEN1
G 0.800 GeneticVariation CLINVAR Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. 9215689

1997
dbSNP: rs398124435
rs398124435
MEN1 ; MAP4K2
A 0.800 GeneticVariation CLINVAR Positional cloning of the gene for multiple endocrine neoplasia-type 1. 9103196

1997
dbSNP: rs104894256
rs104894256
MEN1
C 0.800 CausalMutation CLINVAR

dbSNP: rs104894259
rs104894259
MEN1 ; MAP4K2
T 0.800 CausalMutation CLINVAR

dbSNP: rs1114167528
rs1114167528
MEN1 ; MAP4K2
T 0.800 GeneticVariation CLINVAR

dbSNP: rs1555164707
rs1555164707
MEN1
T 0.800 CausalMutation CLINVAR

dbSNP: rs794728614
rs794728614
MEN1
A 0.800 GeneticVariation CLINVAR

dbSNP: rs863224527
rs863224527
MEN1 ; MAP4K2
T 0.800 CausalMutation CLINVAR

dbSNP: rs863224527
rs863224527
MEN1 ; MAP4K2
T 0.800 GeneticVariation CLINVAR

dbSNP: rs386134250
rs386134250
MEN1
C 0.710 GeneticVariation CLINVAR Late onset asymptomatic pancreatic neuroendocrine tumor - A case report on the phenotypic expansion for MEN1. 28736585

2017
dbSNP: rs386134250
rs386134250
MEN1
C 0.710 GeneticVariation CLINVAR Mutational and large deletion study of genes implicated in hereditary forms of primary hyperparathyroidism and correlation with clinical features. 29036195

2017
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 p.Ala541Thr variant of MEN1 gene: a non deleterious polymorphism or a pathogenic mutation? 24997771

2014
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: 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: 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: rs386134250
rs386134250
MEN1
A 0.710 GeneticVariation CLINVAR Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory. 15714081

2005
dbSNP: rs1060499991
rs1060499991
MEN1 ; MAP4K2
T 0.710 CausalMutation CLINVAR Direct binding of DNA by tumor suppressor menin. 15331604

2004
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