USH2A, usherin, 7399

N. diseases: 119; N. variants: 394
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs368049814
rs368049814
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease:
USHER SYNDROME, TYPE IIA 		T 0.800 GeneticVariation CLINVAR The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa. 28981474 2017
dbSNP: rs368049814
rs368049814
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease:
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
dbSNP: rs397517990
rs397517990
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease:
USHER SYNDROME, TYPE IIA 		T 0.800 GeneticVariation CLINVAR Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients. 28894305 2017
dbSNP: rs111033264
rs111033264
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease:
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
dbSNP: rs111033264
rs111033264
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease:
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
dbSNP: rs111033273
rs111033273
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease:
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
dbSNP: rs201527662
rs201527662
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease:
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
dbSNP: rs202175091
rs202175091
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease:
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
dbSNP: rs397517963
rs397517963
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease:
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
dbSNP: rs397517990
rs397517990
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease:
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
dbSNP: rs527236139
rs527236139
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease:
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
dbSNP: rs753330544
rs753330544
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease:
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
dbSNP: rs753330544
rs753330544
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease:
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
dbSNP: rs111033280
rs111033280
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease:
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
dbSNP: rs148660051
rs148660051
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease:
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
dbSNP: rs148660051
rs148660051
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease:
RETINITIS PIGMENTOSA 39 (disorder) 		T 0.800 GeneticVariation CLINVAR NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa. 26667666 2015
dbSNP: rs148660051
rs148660051
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease:
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
dbSNP: rs201527662
rs201527662
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease:
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
dbSNP: rs201527662
rs201527662
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease:
RETINITIS PIGMENTOSA 39 (disorder) 		C 0.800 GeneticVariation CLINVAR Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family. 26310143 2015
dbSNP: rs202175091
rs202175091
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease:
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
dbSNP: rs202175091
rs202175091
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease:
USHER SYNDROME, TYPE IIA 		A 0.800 CausalMutation CLINVAR Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis. 25575603 2015
dbSNP: rs368049814
rs368049814
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease:
USHER SYNDROME, TYPE IIA 		T 0.800 GeneticVariation CLINVAR NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa. 26667666 2015
dbSNP: rs368049814
rs368049814
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease:
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
dbSNP: rs375668376
rs375668376
Entrez Id: 7399;102723833
Gene Symbol: USH2A;LOC102723833
USH2A;LOC102723833
CUI: C1848634
Disease:
USHER SYNDROME, TYPE IIA 		T 0.800 GeneticVariation CLINVAR Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family. 26310143 2015
dbSNP: rs375668376
rs375668376
Entrez Id: 7399;102723833
Gene Symbol: USH2A;LOC102723833
USH2A;LOC102723833
CUI: C1848634
Disease:
USHER SYNDROME, TYPE IIA 		T 0.800 GeneticVariation CLINVAR Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing. 25356976 2015