Gene: MYO7A ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516321
rs397516321
MYO7A
T 0.800 GeneticVariation CLINVAR Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss. 28472130

2017
dbSNP: rs111033181
rs111033181
MYO7A
A 0.800 GeneticVariation CLINVAR Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 26969326

2016
dbSNP: rs111033214
rs111033214
MYO7A
A 0.800 CausalMutation CLINVAR Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing. 26791358

2016
dbSNP: rs111033214
rs111033214
MYO7A
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: rs1472566324
rs1472566324
MYO7A
A 0.800 GeneticVariation CLINVAR Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 26969326

2016
dbSNP: rs1472566324
rs1472566324
MYO7A
A 0.800 GeneticVariation CLINVAR Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome. 27583663

2016
dbSNP: rs28934610
rs28934610
MYO7A
A 0.800 GeneticVariation CLINVAR Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome. 27583663

2016
dbSNP: rs28934610
rs28934610
MYO7A
A 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: rs397516321
rs397516321
MYO7A
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: rs782252317
rs782252317
MYO7A
A 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: rs28934610
rs28934610
MYO7A
A 0.800 GeneticVariation CLINVAR Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan. 25788563

2015
dbSNP: rs782166819
rs782166819
MYO7A
T 0.800 GeneticVariation CLINVAR Phenotype of Usher syndrome type II assosiated with compound missense mutations of c.721 C>T and c.1969 C>T in MYO7A in a Chinese Usher syndrome family. 26309859

2015
dbSNP: rs782166819
rs782166819
MYO7A
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: rs782252317
rs782252317
MYO7A
A 0.800 GeneticVariation CLINVAR Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis. 25575603

2015
dbSNP: rs111033181
rs111033181
MYO7A
A 0.800 GeneticVariation CLINVAR Targeted exon sequencing in Usher syndrome type I. 25468891

2014
dbSNP: rs111033206
rs111033206
MYO7A
A 0.800 GeneticVariation CLINVAR Targeted exon sequencing in Usher syndrome type I. 25468891

2014
dbSNP: rs199606180
rs199606180
MYO7A
T 0.800 GeneticVariation CLINVAR Targeted exon sequencing in Usher syndrome type I. 25468891

2014
dbSNP: rs199606180
rs199606180
MYO7A
T 0.800 GeneticVariation CLINVAR Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A. 24194196

2014
dbSNP: rs397516321
rs397516321
MYO7A
T 0.800 GeneticVariation CLINVAR MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome. 25558175

2014
dbSNP: rs782252317
rs782252317
MYO7A
A 0.800 GeneticVariation CLINVAR Novel compound heterozygous mutations in MYO7A Associated with Usher syndrome 1 in a Chinese family. 25080338

2014
dbSNP: rs111033214
rs111033214
MYO7A
A 0.800 CausalMutation CLINVAR Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells. 23451239

2013
dbSNP: rs782166819
rs782166819
MYO7A
T 0.800 GeneticVariation CLINVAR Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss. 23770805

2013
dbSNP: rs1555067667
rs1555067667
MYO7A
A 0.800 GeneticVariation CLINVAR Pre-capture multiplexing improves efficiency and cost-effectiveness of targeted genomic enrichment. 23148716

2012
dbSNP: rs28934610
rs28934610
MYO7A
A 0.800 GeneticVariation CLINVAR Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. 22135276

2012
dbSNP: rs782252317
rs782252317
MYO7A
A 0.800 GeneticVariation CLINVAR Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. 22135276

2012