Gene: MYO7A ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033178
rs111033178
MYO7A
A 0.800 CausalMutation CLINVAR Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. 21569298

2011
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: rs111033181
rs111033181
MYO7A
A 0.800 GeneticVariation CLINVAR Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. 10930322

2000
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: rs111033206
rs111033206
MYO7A
A 0.800 CausalMutation CLINVAR Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. 21569298

2011
dbSNP: rs111033206
rs111033206
MYO7A
A 0.800 GeneticVariation CLINVAR Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. 16679490

2006
dbSNP: rs111033206
rs111033206
MYO7A
A 0.800 GeneticVariation CLINVAR Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. 10930322

2000
dbSNP: rs111033206
rs111033206
MYO7A
A 0.800 GeneticVariation CLINVAR Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. 21569298

2011
dbSNP: rs111033214
rs111033214
MYO7A
A 0.800 CausalMutation CLINVAR Identification of three novel mutations in the MYO7A gene. 10447383

1999
dbSNP: rs111033214
rs111033214
MYO7A
A 0.800 CausalMutation CLINVAR Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo. 21311020

2011
dbSNP: rs111033214
rs111033214
MYO7A
A 0.800 GeneticVariation CLINVAR

dbSNP: rs111033214
rs111033214
MYO7A
A 0.800 CausalMutation CLINVAR Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. 18181211

2008
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: 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: rs111033214
rs111033214
MYO7A
A 0.800 CausalMutation CLINVAR Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. 16679490

2006
dbSNP: rs111033214
rs111033214
MYO7A
A 0.800 CausalMutation CLINVAR Four-year follow-up of diagnostic service in USH1 patients. 21436283

2011
dbSNP: rs111033214
rs111033214
MYO7A
A 0.800 CausalMutation CLINVAR Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively. 12112664

2002
dbSNP: rs111033214
rs111033214
MYO7A
A 0.800 CausalMutation CLINVAR Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I. 16470552

2006
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: rs111033215
rs111033215
MYO7A
A 0.800 GeneticVariation CLINVAR

dbSNP: rs111033283
rs111033283
MYO7A
A 0.800 GeneticVariation CLINVAR

dbSNP: rs111033283
rs111033283
MYO7A
A 0.800 CausalMutation CLINVAR

dbSNP: rs1472566324
rs1472566324
MYO7A
A 0.800 GeneticVariation CLINVAR Four-year follow-up of diagnostic service in USH1 patients. 21436283

2011
dbSNP: rs1472566324
rs1472566324
MYO7A
A 0.800 GeneticVariation CLINVAR Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 26969326

2016