Gene: USH2A ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs368049814
rs368049814
USH2A
T 0.800 GeneticVariation CLINVAR The usefulness of whole-exome sequencing in routine clinical practice. 24901346

2014
dbSNP: rs368049814
rs368049814
USH2A
T 0.800 GeneticVariation CLINVAR exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels. 24603341

2014
dbSNP: rs369522997
rs369522997
USH2A
G 0.800 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
dbSNP: rs397517963
rs397517963
USH2A
A 0.800 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
dbSNP: rs753330544
rs753330544
USH2A
A 0.800 CausalMutation CLINVAR Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots. 24944099

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: 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: rs368049814
rs368049814
USH2A
T 0.800 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: rs375668376
rs375668376
USH2A ; LOC102723833
T 0.800 GeneticVariation CLINVAR Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families. 23737954

2013
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 Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. 22135276

2012
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: rs753330544
rs753330544
USH2A
A 0.800 CausalMutation 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 Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. 21569298

2011
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: rs111033263
rs111033263
USH2A
G 0.800 CausalMutation CLINVAR Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. 19683999

2010
dbSNP: rs202175091
rs202175091
USH2A
A 0.800 CausalMutation CLINVAR Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. 19683999

2010
dbSNP: rs368049814
rs368049814
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: rs397517963
rs397517963
USH2A
A 0.800 GeneticVariation CLINVAR Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. 19683999

2010
dbSNP: rs397517990
rs397517990
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: rs753330544
rs753330544
USH2A
A 0.800 CausalMutation CLINVAR PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. 20440071

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

2010
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 Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2. 19737284

2009