rs368049814
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
USHER SYNDROME, TYPE IIA
T
0.800
GeneticVariation
CLINVAR
The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa.
28981474
2017
rs368049814
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
USHER SYNDROME, TYPE IIA
T
0.800
GeneticVariation
CLINVAR
Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.
28761320
2017
rs397517990
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
USHER SYNDROME, TYPE IIA
T
0.800
GeneticVariation
CLINVAR
Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients.
28894305
2017
rs111033264
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
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
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
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
rs111033273
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
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
rs201527662
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
C
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
rs202175091
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
USHER SYNDROME, TYPE IIA
A
0.800
CausalMutation
CLINVAR
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
27460420
2016
rs397517963
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
USHER SYNDROME, TYPE IIA
A
0.800
GeneticVariation
CLINVAR
Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.
27032803
2016
rs397517990
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
USHER SYNDROME, TYPE IIA
T
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
rs527236139
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
T
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
rs753330544
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
USHER SYNDROME, TYPE IIA
A
0.800
CausalMutation
CLINVAR
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
27460420
2016
rs753330544
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
USHER SYNDROME, TYPE IIA
A
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
rs111033280
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
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
rs148660051
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
T
0.800
GeneticVariation
CLINVAR
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
26667666
2015
rs148660051
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
T
0.800
GeneticVariation
CLINVAR
Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.
25472526
2015
rs148660051
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
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
rs201527662
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
C
0.800
GeneticVariation
CLINVAR
Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family.
26310143
2015
rs201527662
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
C
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
rs202175091
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
USHER SYNDROME, TYPE IIA
A
0.800
CausalMutation
CLINVAR
Detecting novel genetic mutations in Chinese Usher syndrome families using next-generation sequencing technology.
25252889
2015
rs202175091
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
USHER SYNDROME, TYPE IIA
A
0.800
CausalMutation
CLINVAR
Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis.
25575603
2015
rs368049814
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
USHER SYNDROME, TYPE IIA
T
0.800
GeneticVariation
CLINVAR
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
26667666
2015
rs368049814
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
USHER SYNDROME, TYPE IIA
T
0.800
GeneticVariation
CLINVAR
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
25412400
2015
rs375668376
USH2A;LOC102723833
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
rs375668376
USH2A;LOC102723833
USHER SYNDROME, TYPE IIA
T
0.800
GeneticVariation
CLINVAR
Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family.
26310143
2015