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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
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Related topics
Related topics
42 relations
AARS, ASP893ASN
ACADL, LYS333GLN (dbSNP rs2286963)
ADIPOR1, 1-BP DEL, 31C
ADK, HIS324ARG
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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
Jong Eun Park
,
Hee Jin Kim
,
+7 authors
S. Seo
Neurobiology of Aging
2020
Corpus ID: 160011241
2017
2017
A closer look at expanded carrier screening from a PGD perspective
Carolina Vaz-de-Macedo
,
J. Harper
Human Reproduction
2017
Corpus ID: 5235430
Conventionally, the search for carrier status was based on ethnicity and/or family history and targeted to a restricted number of…
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2014
2014
Immunohistochemistry for Annexin A10 Can Distinguish Sporadic From Lynch Syndrome–associated Microsatellite-unstable Colorectal Carcinoma
R. Pai
,
B. Shadrach
,
+9 authors
R. Pai
American Journal of Surgical Pathology
2014
Corpus ID: 20719364
Differentiating sporadic microsatellite-unstable colorectal carcinoma due to MLH1 promoter hypermethylation from Lynch syndrome…
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2013
2013
Identification of two novel BRCA1-partner genes in the DNA double-strand break repair pathway
C. Guglielmi
,
I. Cerri
,
+4 authors
M. Caligo
Breast Cancer Research and Treatment
2013
Corpus ID: 19695503
M1775R and A1789T are two missense variants located within the BRCT domains of BRCA1 gene. The M1775R is a known deleterious…
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2012
2012
Hb Haaglanden: a new nonsickling β7Glu>Val variant. Consequences for basic diagnostics, screening, and risk assessment when dealing with HbS‐like variants
C. Harteveld
,
G. Ponjee
,
M. Bakker-Verweij
,
Sandra G. J. Arkesteijn
,
M. Phylipsen
,
Piero C Giordano
International Journal of Laboratory Hematology
2012
Corpus ID: 19417078
Introduction: To report a new hemoglobin variant undistinguishable from the common HbS on HPLC. To show the efficiency of the…
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2011
2011
Contralateral prophylactic mastectomy in breast cancer patients who test negative for BRCA mutations.
M. Howard-McNatt
,
R. Schroll
,
G. Hurt
,
E. Levine
American Journal of Surgery
2011
Corpus ID: 28301511
2011
2011
A simplified method for segregation analysis (SISA) to determine penetrance and expression of a genetic variant in a family
P. Møller
,
Neal Clark
,
L. Mæhle
Human Mutation
2011
Corpus ID: 45997635
A method for SImplified rapid Segregation Analysis (SISA) to assess penetrance and expression of genetic variants in pedigrees of…
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Review
2006
Review
2006
MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients
U. Moog
,
K. Roozendaal
,
+5 authors
C. Schrander‐Stumpel
Brain & development (Tokyo. )
2006
Corpus ID: 14476600
2005
2005
Patients with an unclassified genetic variant in the BRCA1 or BRCA2 genes show different clinical features from those with a mutation.
E. Gomez-Garcia
,
Ton A W Ambergen
,
M. Blok
,
A. van den Wijngaard
Journal of Clinical Oncology
2005
Corpus ID: 22607127
PURPOSE To obtain and compare the probabilities of finding a mutation in the BRCA1 or BRCA2 genes, the clinical features, and the…
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2003
2003
Novel MLH1 mutations and a novel MSH2 polymorphism identified by SSCP and DHPLC in Portuguese HNPCC families
G. Isidro
,
S. Matos
,
+5 authors
M. Boavida
Human Mutation
2003
Corpus ID: 46672982
Mismatch repair genes MSH2 and MLH1 are the two major genes implicated in hereditary nonpolyposis colorectal cancer. For the past…
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