Gene: USH2A ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338902
rs80338902
USH2A
A 0.750 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs80338902
rs80338902
USH2A
A 0.750 GeneticVariation CLINVAR Here, we report Cys759Phe, a novel missense mutation in this gene that changes an amino-acid residue within the fifth laminin-epidermal growth factor-like domain of the USH2A gene and that is associated with recessive RP without hearing loss. 10775529

2000
dbSNP: rs80338904
rs80338904
USH2A
C 0.710 GeneticVariation CLINVAR

dbSNP: rs1003869920
rs1003869920
USH2A
A 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs111033263
rs111033263
USH2A
G 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs111033273
rs111033273
USH2A
G 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs111033364
rs111033364
USH2A
T 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs1553252388
rs1553252388
USH2A
CAAG 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs397518043
rs397518043
USH2A
GTGGC 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs527236139
rs527236139
USH2A
T 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs727505337
rs727505337
USH2A
A 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs750396156
rs750396156
USH2A
A 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs754768875
rs754768875
USH2A ; LOC102723833
A 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs762388072
rs762388072
USH2A
A 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs786200928
rs786200928
USH2A
C 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs80338903
rs80338903
USH2A
T 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs527236139
rs527236139
USH2A
T 0.700 GeneticVariation CLINVAR Targeted next-generation sequencing reveals novel USH2A mutations associated with diverse disease phenotypes: implications for clinical and molecular diagnosis. 25133613

2014
dbSNP: rs368049814
rs368049814
USH2A
T 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: rs750396156
rs750396156
USH2A
A 0.700 GeneticVariation CLINVAR Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis. 23940504

2013
dbSNP: rs1003869920
rs1003869920
USH2A
A 0.700 CausalMutation CLINVAR Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations. 21593743

2011
dbSNP: rs148660051
rs148660051
USH2A
T 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: rs199605265
rs199605265
USH2A
T 0.700 GeneticVariation CLINVAR Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray. 21151602

2010
dbSNP: rs397518041
rs397518041
USH2A
T 0.700 CausalMutation CLINVAR Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II. 19881469

2009
dbSNP: rs753330544
rs753330544
USH2A
A 0.700 GeneticVariation CLINVAR Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II. 18273898

2008
dbSNP: rs779791079
rs779791079
USH2A
T 0.700 CausalMutation CLINVAR Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II. 18273898

2008