Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894263
rs104894263
0.810 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017

dbSNP: rs104894263
rs104894263
0.810 GeneticVariation UNIPROT A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 25394175

2015

dbSNP: rs104894263
rs104894263
0.810 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015

dbSNP: rs104894263
rs104894263
0.810 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013

dbSNP: rs104894263
rs104894263
0.810 GeneticVariation UNIPROT Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). 22723327

2012

dbSNP: rs104894263
rs104894263
0.810 GeneticVariation UNIPROT American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. 20065170

2010

dbSNP: rs104894263
rs104894263
0.810 GeneticVariation UNIPROT Novel mutations in the MEN1 gene in subjects with multiple endocrine neoplasia-1. 15730416

2005

dbSNP: rs104894263
rs104894263
0.810 GeneticVariation UNIPROT Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory. 15714081

2005

dbSNP: rs104894263
rs104894263
0.810 GeneticVariation UNIPROT Menin associates with a trithorax family histone methyltransferase complex and with the hoxc8 locus. 14992727

2004

dbSNP: rs104894263
rs104894263
0.810 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004

dbSNP: rs104894263
rs104894263
0.810 GeneticVariation UNIPROT A novel missense mutation of the MEN1 gene in a multiple endocrine neoplasia type 1 patient associated with carcinoid syndrome. 14686752

2003

dbSNP: rs104894263
rs104894263
0.810 GeneticVariation UNIPROT Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism. 12699448

2003

dbSNP: rs104894263
rs104894263
0.810 GeneticVariation UNIPROT 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: rs104894263
rs104894263
0.810 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: rs104894263
rs104894263
0.810 GeneticVariation UNIPROT Guidelines for diagnosis and therapy of MEN type 1 and type 2. 11739416

2001

dbSNP: rs104894263
rs104894263
0.810 GeneticVariation UNIPROT A novel mutation E179K of the MEN1 gene predisposes for multiple endocrine neoplasia-type 1 (MEN1). 11102994

2000

dbSNP: rs104894263
rs104894263
0.810 GeneticVariation UNIPROT Pituitary macroadenoma in a 5-year-old: an early expression of multiple endocrine neoplasia type 1. 11134142

2000

dbSNP: rs104894263
rs104894263
0.810 GeneticVariation UNIPROT Identification of MEN1 gene mutations in families with MEN 1 and related disorders. 10993647

2000

dbSNP: rs104894263
rs104894263
0.810 GeneticVariation UNIPROT Germline MEN1 mutations in sixteen Japanese families with multiple endocrine neoplasia type 1 (MEN1). 10576763

1999

dbSNP: rs104894263
rs104894263
0.810 GeneticVariation UNIPROT A new mutation of the MEN1 gene in an italian kindred with multiple endocrine neoplasia type 1. 10229909

1999

dbSNP: rs104894263
rs104894263
0.810 GeneticVariation UNIPROT Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription. 9989505

1999

dbSNP: rs104894263
rs104894263
0.810 GeneticVariation UNIPROT Molecular pathology of multiple endocrine neoplasia type I: two novel germline mutations and updated classification of mutations affecting MEN1 gene. 10617276

1999

dbSNP: rs104894263
rs104894263
0.810 GeneticVariation UNIPROT Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases. 9888389

1999

dbSNP: rs104894263
rs104894263
0.810 GeneticVariation UNIPROT Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders. 9683585

1998

dbSNP: rs104894263
rs104894263
0.810 GeneticVariation UNIPROT Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism. 9709921

1998