Gene: MEN1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894263
rs104894263
MEN1
C 0.810 CausalMutation CLINVAR

dbSNP: rs104894256
rs104894256
MEN1
C 0.800 CausalMutation CLINVAR

dbSNP: rs104894259
rs104894259
MEN1 ; MAP4K2
T 0.800 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: rs1114167528
rs1114167528
MEN1 ; MAP4K2
T 0.800 GeneticVariation CLINVAR

dbSNP: rs1555164707
rs1555164707
MEN1
T 0.800 CausalMutation CLINVAR

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: rs376872829
rs376872829
MEN1
G 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: rs376872829
rs376872829
MEN1
G 0.800 GeneticVariation CLINVAR The 32-kilodalton subunit of replication protein A interacts with menin, the product of the MEN1 tumor suppressor gene. 12509449

2003
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: rs376872829
rs376872829
MEN1
G 0.800 GeneticVariation CLINVAR MEN1 is a melanoma tumor suppressor that preserves genomic integrity by stimulating transcription of genes that promote homologous recombination-directed DNA repair. 23648481

2013
dbSNP: rs376872829
rs376872829
MEN1
G 0.800 GeneticVariation CLINVAR Differential binding of the Menin tumor suppressor protein to JunD isoforms. 11221882

2001
dbSNP: rs386134249
rs386134249
MEN1 ; MAP4K2
T 0.800 GeneticVariation CLINVAR Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory. 15714081

2005
dbSNP: rs386134256
rs386134256
MEN1
G 0.800 CausalMutation CLINVAR Cinacalcet therapy in patients affected by primary hyperparathyroidism associated to Multiple Endocrine Neoplasia Syndrome type 1 (MEN1). 26224587

2016
dbSNP: rs386134256
rs386134256
MEN1
G 0.800 CausalMutation CLINVAR Clinical Features and Response to Treatment of Prolactinomas in Children and Adolescents: A Retrospective Single-Centre Analysis and Review of the Literature. 29455199

2018
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