|
rs111033263
|
|
USHER SYNDROME, TYPE IIA
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
|
25404053 |
2014 |
|
rs111033263
|
|
USHER SYNDROME, TYPE IIA
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.
|
24516651 |
2014 |
|
rs111033263
|
|
USHER SYNDROME, TYPE IIA
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.
|
23755871 |
2013 |
|
rs111033263
|
|
USHER SYNDROME, TYPE IIA
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
|
22135276 |
2012 |
|
rs111033263
|
|
USHER SYNDROME, TYPE IIA
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.
|
19683999 |
2010 |
|
rs111033263
|
|
USHER SYNDROME, TYPE IIA
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.
|
17085681 |
2006 |
|
rs111033264
|
|
USHER SYNDROME, TYPE IIA
|
G |
0.800 |
GeneticVariation
|
CLINVAR |
A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.
|
27318125 |
2016 |
|
rs111033264
|
|
USHER SYNDROME, TYPE IIA
|
G |
0.800 |
GeneticVariation
|
CLINVAR |
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
|
27460420 |
2016 |
|
rs111033264
|
|
USHER SYNDROME, TYPE IIA
|
G |
0.800 |
GeneticVariation
|
CLINVAR |
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
|
22135276 |
2012 |
|
rs111033264
|
|
USHER SYNDROME, TYPE IIA
|
G |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs111033273
|
|
USHER SYNDROME, TYPE IIA
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa.
|
26927203 |
2016 |
|
rs111033273
|
|
USHER SYNDROME, TYPE IIA
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.
|
21569298 |
2011 |
|
rs111033273
|
|
USHER SYNDROME, TYPE IIA
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Identification of novel USH2A mutations: implications for the structure of USH2A protein.
|
10909849 |
2000 |
|
rs111033280
|
|
USHER SYNDROME, TYPE IIA
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.
|
26338283 |
2015 |
|
rs111033280
|
|
USHER SYNDROME, TYPE IIA
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots.
|
24944099 |
2014 |
|
rs121912599
|
|
USHER SYNDROME, TYPE IIA
|
T |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs121912600
|
|
RETINITIS PIGMENTOSA 39 (disorder)
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
|
22135276 |
2012 |
|
rs121912600
|
|
USHER SYNDROME, TYPE IIA
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
|
22135276 |
2012 |
|
rs121912600
|
|
USHER SYNDROME, TYPE IIA
|
A |
0.800 |
CausalMutation
|
CLINVAR |
USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.
|
15241801 |
2004 |
|
rs121912600
|
|
RETINITIS PIGMENTOSA 39 (disorder)
|
A |
0.800 |
CausalMutation
|
CLINVAR |
USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.
|
15241801 |
2004 |
|
rs121912600
|
|
USHER SYNDROME, TYPE IIA
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.
|
10729113 |
2000 |
|
rs121912600
|
|
RETINITIS PIGMENTOSA 39 (disorder)
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.
|
10729113 |
2000 |
|
rs143344549
|
|
USHER SYNDROME, TYPE IIA
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs148660051
|
|
RETINITIS PIGMENTOSA 39 (disorder)
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.
|
25649381 |
2015 |
|
rs148660051
|
|
RETINITIS PIGMENTOSA 39 (disorder)
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
|
26667666 |
2015 |