Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338903
rs80338903
USH2A
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		T 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs80338903
rs80338903
USH2A
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		T 0.700 CausalMutation CLINVAR Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments. 14970843

2004
dbSNP: rs80338903
rs80338903
USH2A
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		T 0.700 CausalMutation CLINVAR Mutational spectrum in Usher syndrome type II. 15025721

2004
dbSNP: rs80338903
rs80338903
USH2A
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		T 0.700 CausalMutation CLINVAR Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively. 12112664

2002
dbSNP: rs80338903
rs80338903
USH2A
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		T 0.700 CausalMutation CLINVAR A common ancestral origin of the frequent and widespread 2299delG USH2A mutation. 11402400

2001
dbSNP: rs80338903
rs80338903
USH2A
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		T 0.700 CausalMutation CLINVAR Identification of novel USH2A mutations: implications for the structure of USH2A protein. 10909849

2000
dbSNP: rs80338903
rs80338903
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
dbSNP: rs80338903
rs80338903
USH2A
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		T 0.700 CausalMutation CLINVAR Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. 9624053

1998