Gene: MEN1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: rs1565634591
rs1565634591
MEN1 ; MAP4K2
C 0.700 CausalMutation CLINVAR UMD (Universal mutation database): a generic software to build and analyze locus-specific databases. 10612827

2000
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: 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: 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: rs1114167524
rs1114167524
MEN1 ; MAP4K2
AGGAC 0.700 CausalMutation CLINVAR Tumor suppressor menin: the essential role of nuclear localization signal domains in coordinating gene expression. 16449969

2006
dbSNP: rs1114167531
rs1114167531
MEN1 ; MAP4K2
CCTCGGCCT 0.700 CausalMutation CLINVAR Tumor suppressor menin: the essential role of nuclear localization signal domains in coordinating gene expression. 16449969

2006
dbSNP: rs1114167536
rs1114167536
MEN1 ; MAP4K2
CCCACGGCT 0.700 CausalMutation CLINVAR Tumor suppressor menin: the essential role of nuclear localization signal domains in coordinating gene expression. 16449969

2006
dbSNP: rs1555163646
rs1555163646
MEN1 ; MAP4K2
G 0.700 CausalMutation CLINVAR Tumor suppressor menin: the essential role of nuclear localization signal domains in coordinating gene expression. 16449969

2006
dbSNP: rs1555164184
rs1555164184
MEN1 ; MAP4K2
TG 0.700 GeneticVariation CLINVAR Tumor suppressor menin: the essential role of nuclear localization signal domains in coordinating gene expression. 16449969

2006
dbSNP: rs1565634591
rs1565634591
MEN1 ; MAP4K2
C 0.700 CausalMutation CLINVAR Tumor suppressor menin: the essential role of nuclear localization signal domains in coordinating gene expression. 16449969

2006
dbSNP: rs1565635941
rs1565635941
MEN1 ; MAP4K2
TC 0.700 CausalMutation CLINVAR Tumor suppressor menin: the essential role of nuclear localization signal domains in coordinating gene expression. 16449969

2006
dbSNP: rs767319284
rs767319284
MEN1 ; MAP4K2
C 0.700 CausalMutation CLINVAR Tumor suppressor menin: the essential role of nuclear localization signal domains in coordinating gene expression. 16449969

2006
dbSNP: rs794728631
rs794728631
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: rs863224526
rs863224526
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: 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: 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: 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: rs386134256
rs386134256
MEN1
G 0.800 CausalMutation CLINVAR Screening of patients with multiple endocrine neoplasia type 1 (MEN-1): a critical analysis of its value. 19350320

2009
dbSNP: rs767319284
rs767319284
MEN1 ; MAP4K2
CG 0.700 CausalMutation CLINVAR Rapid mutation screening for HRPT2 and MEN1 mutations associated with familial and sporadic primary hyperparathyroidism. 17065424

2006
dbSNP: rs767319284
rs767319284
MEN1 ; MAP4K2
C 0.700 CausalMutation CLINVAR Rapid mutation screening for HRPT2 and MEN1 mutations associated with familial and sporadic primary hyperparathyroidism. 17065424

2006
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: 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: rs794728631
rs794728631
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