rs80338902
|
|
A |
0.750 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs80338902
|
|
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 |
rs80338904
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
|
|
|
rs1003869920
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs111033263
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs111033273
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs111033364
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs1553252388
|
|
CAAG |
0.700 |
GeneticVariation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs397518043
|
|
GTGGC |
0.700 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs527236139
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs727505337
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs750396156
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs754768875
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs762388072
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs786200928
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs80338903
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs527236139
|
|
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 |
rs368049814
|
|
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 |
rs750396156
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.
|
23940504 |
2013 |
rs1003869920
|
|
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 |
rs148660051
|
|
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 |
rs199605265
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.
|
21151602 |
2010 |
rs397518041
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.
|
19881469 |
2009 |
rs753330544
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.
|
18273898 |
2008 |
rs779791079
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.
|
18273898 |
2008 |