Gene: MEN1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060499974
rs1060499974
MEN1 ; MAP4K2
A 0.700 CausalMutation CLINVAR Mutational and large deletion study of genes implicated in hereditary forms of primary hyperparathyroidism and correlation with clinical features. 29036195

2017
dbSNP: rs104894264
rs104894264
MEN1 ; MAP4K2
T 0.700 CausalMutation CLINVAR Multiple endocrine neoplasia type 1 syndrome: single centre experience from western India. 26905068

2016
dbSNP: rs1114167488
rs1114167488
MEN1
T 0.700 GeneticVariation CLINVAR Parathyroid carcinoma and atypical parathyroid neoplasms in MEN1 patients; A clinico-pathologic challenge. The MD Anderson case series and review of the literature. 27212590

2016
dbSNP: rs794728618
rs794728618
MEN1
A 0.700 GeneticVariation CLINVAR Multiple endocrine neoplasia type 1 (MEN1): An update of 208 new germline variants reported in the last nine years. 26767918

2016
dbSNP: rs794728630
rs794728630
MEN1 ; MAP4K2
A 0.700 CausalMutation CLINVAR Multiple endocrine neoplasia type 1 (MEN1): An update of 208 new germline variants reported in the last nine years. 26767918

2016
dbSNP: rs794728640
rs794728640
MEN1
A 0.700 CausalMutation CLINVAR Multiple endocrine neoplasia type 1 (MEN1): An update of 208 new germline variants reported in the last nine years. 26767918

2016
dbSNP: rs1060499974
rs1060499974
MEN1 ; MAP4K2
A 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs1114167505
rs1114167505
MEN1
T 0.700 GeneticVariation CLINVAR MEN1 c.825‑1G>A mutation in a family with multiple endocrine neoplasia type 1: A case report. 26239674

2015
dbSNP: rs794728647
rs794728647
MEN1
A 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs794728652
rs794728652
MEN1
T 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs1060499974
rs1060499974
MEN1 ; MAP4K2
A 0.700 CausalMutation CLINVAR Genetic and epigenetic analysis in korean patients with multiple endocrine neoplasia type 1. 25309785

2014
dbSNP: rs398124437
rs398124437
MEN1
T 0.700 CausalMutation CLINVAR Genetic and epigenetic analysis in korean patients with multiple endocrine neoplasia type 1. 25309785

2014
dbSNP: rs587776841
rs587776841
MEN1
T 0.700 CausalMutation CLINVAR Insulinoma in childhood: clinical, radiological, molecular and histological aspects of nine patients. 24599222

2014
dbSNP: rs794728640
rs794728640
MEN1
A 0.700 CausalMutation CLINVAR Insulinoma in childhood: clinical, radiological, molecular and histological aspects of nine patients. 24599222

2014
dbSNP: rs104894263
rs104894263
MEN1
C 0.700 CausalMutation 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: rs1114167469
rs1114167469
MEN1
A 0.700 CausalMutation CLINVAR Analysis of genotype-phenotype correlations and survival outcomes in patients with primary hyperparathyroidism caused by multiple endocrine neoplasia type 1: the experience at a single institution. 23052745

2013
dbSNP: rs376872829
rs376872829
MEN1
G 0.700 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: rs587776841
rs587776841
MEN1
T 0.700 CausalMutation CLINVAR MEN1 intragenic deletions may represent the most prevalent somatic event in sporadic primary hyperparathyroidism. 23093699

2013
dbSNP: rs104894261
rs104894261
MEN1 ; MAP4K2
A 0.700 CausalMutation CLINVAR Primary hyperparathyroidism in MEN1 patients: a cohort study with longterm follow-up on preferred surgical procedure and the relation with genotype. 22470073

2012
dbSNP: rs104894263
rs104894263
MEN1
C 0.700 CausalMutation 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: rs1060499974
rs1060499974
MEN1 ; MAP4K2
A 0.700 CausalMutation CLINVAR MEN1-related hyperparathyroidism: response to cinacalcet and its relationship with the calcium-sensing receptor gene variant Arg990Gly. 22577108

2012
dbSNP: rs1060499984
rs1060499984
MEN1
A 0.700 CausalMutation CLINVAR Primary hyperparathyroidism in MEN1 patients: a cohort study with longterm follow-up on preferred surgical procedure and the relation with genotype. 22470073

2012
dbSNP: rs1064793169
rs1064793169
MEN1
G 0.700 GeneticVariation CLINVAR The same pocket in menin binds both MLL and JUND but has opposite effects on transcription. 22327296

2012
dbSNP: rs1114167488
rs1114167488
MEN1
T 0.700 GeneticVariation CLINVAR The same pocket in menin binds both MLL and JUND but has opposite effects on transcription. 22327296

2012
dbSNP: rs1114167502
rs1114167502
MEN1
G 0.700 GeneticVariation CLINVAR The same pocket in menin binds both MLL and JUND but has opposite effects on transcription. 22327296

2012