Gene: MYO7A ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555095933
rs1555095933
MYO7A
CA 0.700 GeneticVariation CLINVAR Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss. 28281779

2017
dbSNP: rs111033415
rs111033415
MYO7A
G 0.700 CausalMutation CLINVAR An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 27460420

2016
dbSNP: rs1224819887
rs1224819887
MYO7A
GA 0.700 GeneticVariation CLINVAR Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 26969326

2016
dbSNP: rs1226046110
rs1226046110
MYO7A
C 0.700 GeneticVariation CLINVAR Compound heterozygous MYO7A mutations segregating Usher syndrome type 2 in a Han family. 27729122

2016
dbSNP: rs1555051455
rs1555051455
MYO7A
T 0.700 CausalMutation CLINVAR An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 27460420

2016
dbSNP: rs1555076948
rs1555076948
MYO7A
A 0.700 GeneticVariation CLINVAR An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 27460420

2016
dbSNP: rs1555096223
rs1555096223
MYO7A
G 0.700 CausalMutation CLINVAR An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 27460420

2016
dbSNP: rs397516281
rs397516281
MYO7A
C 0.700 GeneticVariation CLINVAR An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 27460420

2016
dbSNP: rs397516326
rs397516326
MYO7A
T 0.700 CausalMutation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016
dbSNP: rs41298133
rs41298133
MYO7A
T 0.700 CausalMutation CLINVAR An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 27460420

2016
dbSNP: rs41298133
rs41298133
MYO7A
T 0.700 CausalMutation CLINVAR Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss. 27610647

2016
dbSNP: rs564622720
rs564622720
MYO7A
A 0.700 GeneticVariation CLINVAR DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System. 27068579

2016
dbSNP: rs755934966
rs755934966
MYO7A
A 0.700 GeneticVariation CLINVAR Compound heterozygous MYO7A mutations segregating Usher syndrome type 2 in a Han family. 27729122

2016
dbSNP: rs755934966
rs755934966
MYO7A
A 0.700 GeneticVariation CLINVAR An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 27460420

2016
dbSNP: rs755934966
rs755934966
MYO7A
A 0.700 GeneticVariation CLINVAR Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss. 27610647

2016
dbSNP: rs773945008
rs773945008
MYO7A
A 0.700 CausalMutation CLINVAR An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 27460420

2016
dbSNP: rs782064437
rs782064437
MYO7A
G 0.700 CausalMutation CLINVAR An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 27460420

2016
dbSNP: rs797044510
rs797044510
MYO7A
A 0.700 CausalMutation CLINVAR Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome. 27583663

2016
dbSNP: rs797044516
rs797044516
MYO7A
A 0.700 GeneticVariation CLINVAR Usher syndrome in Denmark: mutation spectrum and some clinical observations. 27957503

2016
dbSNP: rs797044516
rs797044516
MYO7A
A 0.700 GeneticVariation CLINVAR An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 27460420

2016
dbSNP: rs869312181
rs869312181
MYO7A
G 0.700 GeneticVariation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016
dbSNP: rs878853236
rs878853236
MYO7A
T 0.700 GeneticVariation CLINVAR An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 27460420

2016
dbSNP: rs878864531
rs878864531
MYO7A
T 0.700 CausalMutation CLINVAR An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 27460420

2016
dbSNP: rs886037762
rs886037762
MYO7A
A 0.700 CausalMutation CLINVAR Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis. 27440999

2016
dbSNP: rs111033174
rs111033174
MYO7A
0.700 GeneticVariation UNIPROT Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients. 25798947

2015