Gene: MYO7A ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs914189193
rs914189193
MYO7A
A 0.700 GeneticVariation CLINVAR Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2. 24831256

2014
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: 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: rs878853378
rs878853378
MYO7A
A 0.700 CausalMutation CLINVAR

dbSNP: rs878853236
rs878853236
MYO7A
T 0.700 GeneticVariation CLINVAR Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing. 24105371

2014
dbSNP: rs878853236
rs878853236
MYO7A
T 0.700 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: rs878853236
rs878853236
MYO7A
T 0.700 GeneticVariation CLINVAR Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. 26338283

2015
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: rs878853236
rs878853236
MYO7A
T 0.700 CausalMutation CLINVAR

dbSNP: rs876657417
rs876657417
MYO7A
C 0.700 GeneticVariation CLINVAR Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. 21569298

2011
dbSNP: rs876657416
rs876657416
MYO7A
C 0.800 CausalMutation CLINVAR

dbSNP: rs876657416
rs876657416
MYO7A
0.800 GeneticVariation UNIPROT American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 24651602

2014
dbSNP: rs876657416
rs876657416
MYO7A
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Usher syndrome. 21697857

2011
dbSNP: rs876657415
rs876657415
MYO7A
T 0.700 CausalMutation CLINVAR Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. 21569298

2011
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: 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: rs797044516
rs797044516
MYO7A
A 0.700 GeneticVariation CLINVAR Targeted next generation sequencing for molecular diagnosis of Usher syndrome. 25404053

2014
dbSNP: rs797044510
rs797044510
MYO7A
A 0.700 CausalMutation CLINVAR Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome. 27583663

2016
dbSNP: rs797044510
rs797044510
MYO7A
A 0.700 CausalMutation CLINVAR 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: rs782787126
rs782787126
MYO7A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs782694195
rs782694195
MYO7A
A 0.700 CausalMutation CLINVAR Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. 21569298

2011
dbSNP: rs782694195
rs782694195
MYO7A
A 0.700 CausalMutation CLINVAR Targeted next generation sequencing for molecular diagnosis of Usher syndrome. 25404053

2014
dbSNP: rs782661097
rs782661097
MYO7A
C 0.700 GeneticVariation CLINVAR

dbSNP: rs782539587
rs782539587
MYO7A
T 0.700 CausalMutation CLINVAR