Gene: USH2A ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033263
rs111033263
USH2A
G 0.800 CausalMutation CLINVAR Targeted next generation sequencing for molecular diagnosis of Usher syndrome. 25404053

2014
dbSNP: rs111033263
rs111033263
USH2A
G 0.800 CausalMutation CLINVAR Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II. 17085681

2006
dbSNP: rs111033263
rs111033263
USH2A
G 0.800 CausalMutation CLINVAR Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. 19683999

2010
dbSNP: rs111033263
rs111033263
USH2A
G 0.800 CausalMutation CLINVAR Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families. 23755871

2013
dbSNP: rs111033263
rs111033263
USH2A
G 0.800 CausalMutation CLINVAR Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies. 24516651

2014
dbSNP: rs111033263
rs111033263
USH2A
G 0.800 CausalMutation CLINVAR Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. 22135276

2012
dbSNP: rs111033264
rs111033264
USH2A
G 0.800 GeneticVariation CLINVAR A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa. 27318125

2016
dbSNP: rs111033264
rs111033264
USH2A
G 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: rs111033264
rs111033264
USH2A
G 0.800 CausalMutation CLINVAR

dbSNP: rs111033264
rs111033264
USH2A
G 0.800 GeneticVariation CLINVAR Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. 22135276

2012
dbSNP: rs111033273
rs111033273
USH2A
G 0.800 CausalMutation CLINVAR Identification of novel USH2A mutations: implications for the structure of USH2A protein. 10909849

2000
dbSNP: rs111033273
rs111033273
USH2A
G 0.800 CausalMutation CLINVAR Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. 21569298

2011
dbSNP: rs111033273
rs111033273
USH2A
G 0.800 CausalMutation CLINVAR Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa. 26927203

2016
dbSNP: rs111033280
rs111033280
USH2A
T 0.800 GeneticVariation CLINVAR Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots. 24944099

2014
dbSNP: rs111033280
rs111033280
USH2A
T 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: rs121912599
rs121912599
USH2A
T 0.800 CausalMutation CLINVAR

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: 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 Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. 22135276

2012
dbSNP: rs143344549
rs143344549
USH2A
A 0.800 GeneticVariation CLINVAR

dbSNP: rs1553261372
rs1553261372
USH2A
T 0.800 GeneticVariation CLINVAR Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots. 24944099

2014
dbSNP: rs1553261372
rs1553261372
USH2A
T 0.800 GeneticVariation CLINVAR Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies. 24516651

2014
dbSNP: rs1553261372
rs1553261372
USH2A
T 0.800 GeneticVariation CLINVAR Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations. 22004887

2011
dbSNP: rs202175091
rs202175091
USH2A
A 0.800 GeneticVariation CLINVAR Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2. 19737284

2009
dbSNP: rs202175091
rs202175091
USH2A
A 0.800 CausalMutation CLINVAR Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. 19683999

2010