Skip to search formSkip to main contentSkip to account menu

VARIANT OF UNKNOWN SIGNIFICANCE

Known as: Variant of Undetermined Significance, unclassified variant, variant of uncertain significance 
A variation in a genetic sequence whose association with disease risk is unknown.
National Institutes of Health

Related topics

Related topics

42 relations
AARS, ASP893ASNACADL, LYS333GLN (dbSNP rs2286963)ADIPOR1, 1-BP DEL, 31CADK, HIS324ARG

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Analysis of dementia-related gene variants in APOE ε4 noncarrying Korean patients with early-onset Alzheimer's disease
2017
2017
A closer look at expanded carrier screening from a PGD perspective
Conventionally, the search for carrier status was based on ethnicity and/or family history and targeted to a restricted number of… 
2014
2014
Immunohistochemistry for Annexin A10 Can Distinguish Sporadic From Lynch Syndrome–associated Microsatellite-unstable Colorectal Carcinoma
Differentiating sporadic microsatellite-unstable colorectal carcinoma due to MLH1 promoter hypermethylation from Lynch syndrome… 
2013
2013
Identification of two novel BRCA1-partner genes in the DNA double-strand break repair pathway
M1775R and A1789T are two missense variants located within the BRCT domains of BRCA1 gene. The M1775R is a known deleterious… 
2012
2012
Hb Haaglanden: a new nonsickling β7Glu>Val variant. Consequences for basic diagnostics, screening, and risk assessment when dealing with HbS‐like variants
Introduction:  To report a new hemoglobin variant undistinguishable from the common HbS on HPLC. To show the efficiency of the… 
2011
2011
Contralateral prophylactic mastectomy in breast cancer patients who test negative for BRCA mutations.
2011
2011
A simplified method for segregation analysis (SISA) to determine penetrance and expression of a genetic variant in a family
A method for SImplified rapid Segregation Analysis (SISA) to assess penetrance and expression of genetic variants in pedigrees of… 
Review
2006
Review
2006
MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients
2005
2005
Patients with an unclassified genetic variant in the BRCA1 or BRCA2 genes show different clinical features from those with a mutation.
PURPOSE To obtain and compare the probabilities of finding a mutation in the BRCA1 or BRCA2 genes, the clinical features, and the… 
2003
2003
Novel MLH1 mutations and a novel MSH2 polymorphism identified by SSCP and DHPLC in Portuguese HNPCC families
Mismatch repair genes MSH2 and MLH1 are the two major genes implicated in hereditary nonpolyposis colorectal cancer. For the past… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)