Gene: MYO7A ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs782468194
rs782468194
MYO7A
T 0.700 GeneticVariation CLINVAR

dbSNP: rs782384464
rs782384464
MYO7A
T 0.700 CausalMutation CLINVAR Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1. 24618850

2014
dbSNP: rs782350886
rs782350886
MYO7A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs782292032
rs782292032
MYO7A
G 0.700 CausalMutation CLINVAR

dbSNP: rs782292032
rs782292032
MYO7A
G 0.700 GeneticVariation CLINVAR

dbSNP: rs782252317
rs782252317
MYO7A
0.800 GeneticVariation UNIPROT Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins. 9382091

1997
dbSNP: rs782252317
rs782252317
MYO7A
0.800 GeneticVariation UNIPROT Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. 15660226

2005
dbSNP: rs782252317
rs782252317
MYO7A
A 0.800 GeneticVariation CLINVAR Impacts of Usher syndrome type IB mutations on human myosin VIIa motor function. 18700726

2008
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: rs782252317
rs782252317
MYO7A
0.800 GeneticVariation UNIPROT Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively. 12112664

2002
dbSNP: rs782252317
rs782252317
MYO7A
0.800 GeneticVariation UNIPROT Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome. 9718356

1998
dbSNP: rs782252317
rs782252317
MYO7A
0.800 GeneticVariation UNIPROT Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. 10930322

2000
dbSNP: rs782252317
rs782252317
MYO7A
0.800 GeneticVariation UNIPROT Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity. 10094549

1999
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: rs782252317
rs782252317
MYO7A
0.800 GeneticVariation UNIPROT Identification of three novel mutations in the MYO7A gene. 10447383

1999
dbSNP: rs782252317
rs782252317
MYO7A
0.800 GeneticVariation UNIPROT Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. 8900236

1996
dbSNP: rs782252317
rs782252317
MYO7A
A 0.800 GeneticVariation CLINVAR Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB. 9002678

1997
dbSNP: rs782252317
rs782252317
MYO7A
0.800 GeneticVariation UNIPROT Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1. 23559863

2013
dbSNP: rs782252317
rs782252317
MYO7A
0.800 GeneticVariation UNIPROT Defective myosin VIIA gene responsible for Usher syndrome type 1B. 7870171

1995
dbSNP: rs782252317
rs782252317
MYO7A
0.800 GeneticVariation UNIPROT Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB. 9002678

1997
dbSNP: rs782252317
rs782252317
MYO7A
0.800 GeneticVariation UNIPROT 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: rs782252317
rs782252317
MYO7A
0.800 GeneticVariation UNIPROT Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients. 25798947

2015
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: rs782252317
rs782252317
MYO7A
0.800 GeneticVariation UNIPROT Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2. 24831256

2014
dbSNP: rs782252317
rs782252317
MYO7A
0.800 GeneticVariation UNIPROT Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance. 10364543

1999