|
rs104894264
|
|
|
0.800 |
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 |
|
rs104894264
|
|
|
0.800 |
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 |
|
rs104894264
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
rs104894264
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
rs104894264
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1).
|
22723327 |
2012 |
|
rs104894264
|
|
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 |
|
rs104894264
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.
|
20065170 |
2010 |
|
rs104894264
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Multiple endocrine neoplasia type 1 in Northern Finland; clinical features and genotype phenotype correlation.
|
17766710 |
2007 |
|
rs104894264
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory.
|
15714081 |
2005 |
|
rs104894264
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mutations in the MEN1 gene in subjects with multiple endocrine neoplasia-1.
|
15730416 |
2005 |
|
rs104894264
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Menin associates with a trithorax family histone methyltransferase complex and with the hoxc8 locus.
|
14992727 |
2004 |
|
rs104894264
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
|
15604628 |
2004 |
|
rs104894264
|
|
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 |
|
rs104894264
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel missense mutation of the MEN1 gene in a multiple endocrine neoplasia type 1 patient associated with carcinoid syndrome.
|
14686752 |
2003 |
|
rs104894264
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism.
|
12699448 |
2003 |
|
rs104894264
|
|
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 |
|
rs104894264
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Pituitary disease in MEN type 1 (MEN1): data from the France-Belgium MEN1 multicenter study.
|
11836268 |
2002 |
|
rs104894264
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1.
|
12050235 |
2002 |
|
rs104894264
|
|
|
0.800 |
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 |
|
rs104894264
|
|
|
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 |
|
rs104894264
|
|
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 |
|
rs104894264
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Founder effect in multiple endocrine neoplasia type 1 (MEN 1) in Finland.
|
11303512 |
2001 |
|
rs104894264
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Guidelines for diagnosis and therapy of MEN type 1 and type 2.
|
11739416 |
2001 |
|
rs104894264
|
|
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 |
|
rs104894264
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of MEN1 gene mutations in families with MEN 1 and related disorders.
|
10993647 |
2000 |