Gene: USH2A ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397518039
rs397518039
USH2A
C 0.700 CausalMutation CLINVAR

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: rs397518043
rs397518043
USH2A
GTGGC 0.700 CausalMutation CLINVAR Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. 10729113

2000
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: rs41315579
rs41315579
USH2A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs527236118
rs527236118
USH2A
G 0.700 CausalMutation CLINVAR

dbSNP: rs527236119
rs527236119
USH2A
C 0.700 CausalMutation CLINVAR

dbSNP: rs527236120
rs527236120
USH2A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs527236121
rs527236121
USH2A
ATC 0.700 GeneticVariation CLINVAR

dbSNP: rs527236123
rs527236123
USH2A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs527236124
rs527236124
USH2A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs527236125
rs527236125
USH2A
T 0.700 GeneticVariation CLINVAR

dbSNP: rs527236127
rs527236127
USH2A
T 0.700 GeneticVariation CLINVAR

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

2019
dbSNP: rs55958016
rs55958016
USH2A
T 0.700 GeneticVariation CLINVAR

dbSNP: rs727503731
rs727503731
USH2A
CT 0.700 CausalMutation CLINVAR Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. 10729113

2000
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: rs746551311
rs746551311
USH2A ; LOC105372918
A 0.700 CausalMutation CLINVAR Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa. 15325563

2004
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: rs750396156
rs750396156
USH2A
A 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs751111524
rs751111524
USH2A
C 0.700 GeneticVariation CLINVAR

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

2008
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