Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894264
rs104894264
MEN1 ; MAP4K2
0.800 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004
dbSNP: rs104894264
rs104894264
MEN1 ; MAP4K2
0.800 GeneticVariation UNIPROT A novel six-nucleotide insertion in exon 4 of the MEN1 gene, 878insCTGCAG, in three patients with familial insulinoma and primary hyperparathyroidism. 12417605

2002
dbSNP: rs104894264
rs104894264
MEN1 ; MAP4K2
0.800 GeneticVariation UNIPROT Guidelines for diagnosis and therapy of MEN type 1 and type 2. 11739416

2001
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
0.800 GeneticVariation UNIPROT Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription. 9989505

1999
dbSNP: rs104894264
rs104894264
MEN1 ; MAP4K2
0.800 GeneticVariation UNIPROT A new mutation of the MEN1 gene in an italian kindred with multiple endocrine neoplasia type 1. 10229909

1999
dbSNP: rs104894264
rs104894264
MEN1 ; MAP4K2
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
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 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
0.800 GeneticVariation UNIPROT Pituitary macroadenoma in a 5-year-old: an early expression of multiple endocrine neoplasia type 1. 11134142

2000
dbSNP: rs104894264
rs104894264
MEN1 ; MAP4K2
0.800 GeneticVariation UNIPROT Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders. 9683585

1998
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