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 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: rs80338902
rs80338902
USH2A
A 0.750 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs80338904
rs80338904
USH2A
C 0.710 GeneticVariation CLINVAR

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

2019
dbSNP: rs1035024403
rs1035024403
USH2A
T 0.700 GeneticVariation CLINVAR

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 Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. 15015129

2004
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: rs1172628170
rs1172628170
USH2A
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1359713084
rs1359713084
USH2A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs138398671
rs138398671
USH2A
A 0.700 GeneticVariation CLINVAR

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: rs150230450
rs150230450
USH2A
C 0.700 GeneticVariation CLINVAR

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: rs1553257685
rs1553257685
USH2A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553263639
rs1553263639
USH2A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553273280
rs1553273280
USH2A
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553274531
rs1553274531
USH2A
T 0.700 GeneticVariation CLINVAR

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: rs199605265
rs199605265
USH2A
T 0.700 CausalMutation CLINVAR

dbSNP: rs199840367
rs199840367
USH2A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs201527662
rs201527662
USH2A
C 0.700 CausalMutation CLINVAR

dbSNP: rs35818432
rs35818432
USH2A
C 0.700 GeneticVariation CLINVAR