Gene: USH2A ×
Source: ALL
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
0.750 GeneticVariation BEFREE These findings, together with a review of the literature, support the hypothesis that homozygous p.C759F mutations are not pathogenic and led us to exclude the implication of p.C759F in the RP of family S23. 25823529

2015
dbSNP: rs80338902
rs80338902
USH2A
0.750 GeneticVariation BEFREE Caucasian frequent mutations p.C759F in arRP and p.E767fs in USH2 were not found. 25078356

2014
dbSNP: rs80338902
rs80338902
USH2A
0.750 GeneticVariation BEFREE Furthermore, the C759F mutation in the USH2A gene has been described in 4.5% of patients with nonsyndromic recessive RP. 14970843

2004
dbSNP: rs80338902
rs80338902
USH2A
0.750 GeneticVariation BEFREE A patient with RP without hearing loss caused by the homozygous mutation Cys759Phe in the USH2A gene on chromosome 1q was found to be the daughter of a noncarrier mother and a father who was heterozygous for this change. 12427073

2002
dbSNP: rs80338902
rs80338902
USH2A
0.750 GeneticVariation BEFREE 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 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
0.710 GeneticVariation BEFREE Compound heterozygotes for 2 null mutations (Thr80fs and Arg737stop) in MOL0051 suffered from USH2 while compound heterozygotes for 1 of the null mutations and a novel missense mutation (Gly4674Arg) had nonsyndromic RP. 17296898

2007
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