Gene: USH2A ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201527662
rs201527662
USH2A
C 0.800 GeneticVariation CLINVAR An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 27460420

2016
dbSNP: rs527236139
rs527236139
USH2A
T 0.800 GeneticVariation CLINVAR An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 27460420

2016
dbSNP: rs148660051
rs148660051
USH2A
T 0.800 GeneticVariation CLINVAR A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants. 25649381

2015
dbSNP: rs148660051
rs148660051
USH2A
T 0.800 GeneticVariation CLINVAR NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa. 26667666

2015
dbSNP: rs148660051
rs148660051
USH2A
T 0.800 GeneticVariation CLINVAR Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland. 25472526

2015
dbSNP: rs201527662
rs201527662
USH2A
C 0.800 GeneticVariation CLINVAR Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family. 26310143

2015
dbSNP: rs201527662
rs201527662
USH2A
C 0.800 GeneticVariation CLINVAR Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. 26338283

2015
dbSNP: rs527236139
rs527236139
USH2A
T 0.800 GeneticVariation CLINVAR A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants. 25649381

2015
dbSNP: rs148660051
rs148660051
USH2A
T 0.800 GeneticVariation CLINVAR Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa. 25097241

2014
dbSNP: rs201527662
rs201527662
USH2A
C 0.800 GeneticVariation CLINVAR Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing. 24938718

2014
dbSNP: rs201527662
rs201527662
USH2A
C 0.800 GeneticVariation CLINVAR Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing. 25324289

2014
dbSNP: rs527236139
rs527236139
USH2A
T 0.800 GeneticVariation CLINVAR Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing. 25324289

2014
dbSNP: rs527236139
rs527236139
USH2A
T 0.800 GeneticVariation CLINVAR Targeted next-generation sequencing reveals novel USH2A mutations associated with diverse disease phenotypes: implications for clinical and molecular diagnosis. 25133613

2014
dbSNP: rs80338902
rs80338902
USH2A
A 0.800 GeneticVariation CLINVAR Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots. 24944099

2014
dbSNP: rs121912600
rs121912600
USH2A
A 0.800 CausalMutation CLINVAR Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. 22135276

2012
dbSNP: rs148660051
rs148660051
USH2A
T 0.800 GeneticVariation CLINVAR Next-generation genetic testing for retinitis pigmentosa. 22334370

2012
dbSNP: rs148660051
rs148660051
USH2A
T 0.800 GeneticVariation CLINVAR Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations. 22004887

2011
dbSNP: rs148660051
rs148660051
USH2A
T 0.800 GeneticVariation CLINVAR Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa. 20507924

2010
dbSNP: rs527236139
rs527236139
USH2A
T 0.800 GeneticVariation CLINVAR Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa. 20507924

2010
dbSNP: rs80338902
rs80338902
USH2A
A 0.800 GeneticVariation CLINVAR Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. 19683999

2010
dbSNP: rs80338902
rs80338902
USH2A
A 0.800 GeneticVariation CLINVAR Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II. 18273898

2008
dbSNP: rs121912600
rs121912600
USH2A
A 0.800 CausalMutation CLINVAR USH2A mutation analysis in 70 Dutch families with Usher syndrome type II. 15241801

2004
dbSNP: rs121912600
rs121912600
USH2A
A 0.800 CausalMutation CLINVAR Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. 10729113

2000
dbSNP: rs80338902
rs80338902
USH2A
A 0.800 CausalMutation CLINVAR

dbSNP: rs80338904
rs80338904
USH2A
C 0.800 CausalMutation CLINVAR