rs1553268563
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
Overgrowth
A
0.700
GeneticVariation
CLINVAR
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.
25649381
2015
rs1553268563
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
Overgrowth
A
0.700
GeneticVariation
CLINVAR
Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots.
24944099
2014
rs1553268563
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
Overgrowth
A
0.700
GeneticVariation
CLINVAR
Expressivity of hearing loss in cases with Usher syndrome type IIA.
24160897
2013
rs1553268563
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
Overgrowth
A
0.700
GeneticVariation
CLINVAR
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.
23352160
2013
rs1553268563
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
Overgrowth
A
0.700
GeneticVariation
CLINVAR
Patterns and rates of exonic de novo mutations in autism spectrum disorders.
22495311
2012
rs1553268563
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
Overgrowth
A
0.700
GeneticVariation
CLINVAR
An update on the genetics of usher syndrome.
21234346
2011
rs1553268563
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
Overgrowth
A
0.700
GeneticVariation
CLINVAR
Phenotypes in defined genotypes including siblings with Usher syndrome.
21174530
2011
rs1553268563
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
Overgrowth
A
0.700
GeneticVariation
CLINVAR
The USH2A c.2299delG mutation: dating its common origin in a Southern European population.
20145675
2010
rs1553268563
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
Overgrowth
A
0.700
GeneticVariation
CLINVAR
An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians.
18665195
2009
rs1553268563
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
Overgrowth
A
0.700
GeneticVariation
CLINVAR
Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2.
17296898
2007
rs1553268563
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
Overgrowth
A
0.700
GeneticVariation
CLINVAR
Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.
15325563
2004
rs1553268563
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
Overgrowth
A
0.700
GeneticVariation
CLINVAR
Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation.
12525556
2003
rs1553268563
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
Overgrowth
A
0.700
GeneticVariation
CLINVAR
Spectrum of mutations in USH2A in British patients with Usher syndrome type II.
11311042
2001
rs1553268563
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
Overgrowth
A
0.700
GeneticVariation
CLINVAR
Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.
10775529
2000
rs1553268563
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
Overgrowth
A
0.700
GeneticVariation
CLINVAR
Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.
10729113
2000