Gene: USH2A ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1035024403
rs1035024403
USH2A
T 0.700 GeneticVariation CLINVAR Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 28041643

2017
dbSNP: rs1057517533
rs1057517533
USH2A
C 0.700 GeneticVariation CLINVAR Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. 24265693

2013
dbSNP: rs1057517533
rs1057517533
USH2A
C 0.700 GeneticVariation CLINVAR Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. 23591405

2014
dbSNP: rs1057518826
rs1057518826
USH2A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519193
rs1057519193
USH2A
T 0.700 CausalMutation CLINVAR An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 27460420

2016
dbSNP: rs1064793745
rs1064793745
USH2A ; LOC105372918
T 0.700 GeneticVariation CLINVAR Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 26969326

2016
dbSNP: rs1064797134
rs1064797134
USH2A
T 0.700 CausalMutation CLINVAR An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 27460420

2016
dbSNP: rs1064797134
rs1064797134
USH2A
T 0.700 CausalMutation CLINVAR Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. 27353947

2016
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: rs111033268
rs111033268
USH2A
A 0.700 GeneticVariation CLINVAR An audit of genetic testing in diagnosis of inherited retinal disorders: a prerequisite for gene-specific intervention. 19788668

2009
dbSNP: rs111033268
rs111033268
USH2A
A 0.700 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: rs111033272
rs111033272
USH2A
T 0.700 GeneticVariation CLINVAR Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis. 25575603

2015
dbSNP: rs111033272
rs111033272
USH2A
T 0.700 GeneticVariation CLINVAR An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 27460420

2016
dbSNP: rs111033272
rs111033272
USH2A
T 0.700 GeneticVariation CLINVAR Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots. 24944099

2014
dbSNP: rs111033272
rs111033272
USH2A
T 0.700 GeneticVariation 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: rs111033272
rs111033272
USH2A
T 0.700 GeneticVariation CLINVAR Experience of targeted Usher exome sequencing as a clinical test. 24498627

2014