×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
GeneticVariation
CLINVAR
Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2.
19737284 2009
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
CausalMutation
CLINVAR
Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.
23737954 2013
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
CausalMutation
CLINVAR
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.
18273898 2008
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
GeneticVariation
CLINVAR
Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.
21151602 2010
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
CausalMutation
CLINVAR
Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity.
26856745 2016
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
CausalMutation
CLINVAR
Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.
15325563 2004
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
GeneticVariation
CLINVAR
Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.
15015129 2004
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
GeneticVariation
CLINVAR
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
26667666 2015
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
CausalMutation
CLINVAR
Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.
17085681 2006
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
CausalMutation
CLINVAR
A paradigm shift in the delivery of services for diagnosis of inherited retinal disease.
22581970 2012
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
GeneticVariation
CLINVAR
Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome.
25333064 2014
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
GeneticVariation
CLINVAR
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.
28944237 2017
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
CausalMutation
CLINVAR
Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
25404053 2014
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
GeneticVariation
CLINVAR
Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes.
20052763 2010
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
CausalMutation
CLINVAR
Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene.
18641288 2008
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
CausalMutation
CLINVAR
Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing.
25324289 2014
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
GeneticVariation
CLINVAR
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.
21569298 2011
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
CausalMutation
CLINVAR
Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families.
10738000 2000
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
GeneticVariation
CLINVAR
Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.
19881469 2009
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
GeneticVariation
CLINVAR
Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.
12112664 2002
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
GeneticVariation
CLINVAR
Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencing.
25211151 2014
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
GeneticVariation
CLINVAR
Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.
28512305 2017
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
CausalMutation
CLINVAR
Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients.
28894305 2017
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
CausalMutation
CLINVAR
USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.
15241801 2004
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
GeneticVariation
CLINVAR
Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.
15325563 2004