Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033280
rs111033280
USH2A
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		T 0.700 CausalMutation CLINVAR Genomic Landscape and Mutational Signatures of Deafness-Associated Genes. 30245029

2018
dbSNP: rs111033280
rs111033280
USH2A
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		T 0.700 CausalMutation CLINVAR The Genetics of Usher Syndrome in the Israeli and Palestinian Populations. 29490346

2018
dbSNP: rs111033280
rs111033280
USH2A
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		T 0.700 CausalMutation CLINVAR A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa. 27318125

2016
dbSNP: rs111033280
rs111033280
USH2A
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		T 0.700 CausalMutation CLINVAR Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. 26338283

2015
dbSNP: rs111033280
rs111033280
USH2A
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		T 0.700 CausalMutation CLINVAR Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing. 25356976

2015
dbSNP: rs111033280
rs111033280
USH2A
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		T 0.700 CausalMutation CLINVAR Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. 22135276

2012
dbSNP: rs111033280
rs111033280
USH2A
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		T 0.700 CausalMutation CLINVAR Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes. 20052763

2010
dbSNP: rs111033280
rs111033280
USH2A
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		T 0.700 CausalMutation CLINVAR Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II. 18273898

2008
dbSNP: rs111033280
rs111033280
USH2A
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		T 0.700 CausalMutation CLINVAR Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa. 15325563

2004
dbSNP: rs111033280
rs111033280
USH2A
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		T 0.700 CausalMutation CLINVAR Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. 10729113

2000