MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
Disease: Usher Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516332
rs397516332
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C0271097
Disease:
Usher Syndrome 		A 0.700 GeneticVariation CLINVAR Structure of Myo7b/USH1C complex suggests a general PDZ domain binding mode by MyTH4-FERM myosins. 28439001 2017
dbSNP: rs797044516
rs797044516
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C0271097
Disease:
Usher Syndrome 		A 0.700 CausalMutation CLINVAR Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. 28944237 2017
dbSNP: rs797044516
rs797044516
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C0271097
Disease:
Usher Syndrome 		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: rs111033486
rs111033486
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C0271097
Disease:
Usher Syndrome 		G 0.700 GeneticVariation CLINVAR Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland. 25472526 2015
dbSNP: rs111033486
rs111033486
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C0271097
Disease:
Usher Syndrome 		G 0.700 GeneticVariation CLINVAR Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2. 24831256 2014
dbSNP: rs797044516
rs797044516
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C0271097
Disease:
Usher Syndrome 		A 0.700 CausalMutation CLINVAR Targeted next generation sequencing for molecular diagnosis of Usher syndrome. 25404053 2014
dbSNP: rs1199012623
rs1199012623
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C0271097
Disease:
Usher Syndrome 		G 0.700 CausalMutation CLINVAR Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. 18181211 2008
dbSNP: rs111033347
rs111033347
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C0271097
Disease:
Usher Syndrome 		C 0.700 CausalMutation CLINVAR MYO7A mutation screening in Usher syndrome type I patients from diverse origins. 17361009 2007
dbSNP: rs397516332
rs397516332
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C0271097
Disease:
Usher Syndrome 		A 0.700 GeneticVariation CLINVAR Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. 10930322 2000
dbSNP: rs782166819
rs782166819
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C0271097
Disease:
Usher Syndrome 		T 0.700 GeneticVariation CLINVAR Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. 10930322 2000
dbSNP: rs111033178
rs111033178
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C0271097
Disease:
Usher Syndrome 		A 0.700 GeneticVariation CLINVAR Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity. 10094549 1999
dbSNP: rs111033201
rs111033201
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C0271097
Disease:
Usher Syndrome 		T 0.700 CausalMutation CLINVAR Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome. 9718356 1998
dbSNP: rs116892396
rs116892396
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C0271097
Disease:
Usher Syndrome 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1171417339
rs1171417339
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C0271097
Disease:
Usher Syndrome 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1383147250
rs1383147250
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C0271097
Disease:
Usher Syndrome 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555051390
rs1555051390
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C0271097
Disease:
Usher Syndrome 		AG 0.700 GeneticVariation CLINVAR
dbSNP: rs1555078942
rs1555078942
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C0271097
Disease:
Usher Syndrome 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs750358148
rs750358148
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C0271097
Disease:
Usher Syndrome 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1296612982
rs1296612982
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C0271097
Disease:
Usher Syndrome 		0.010 GeneticVariation BEFREE In another family affected with USH type 2, novel biallelic mutations in MYO7A, c.[1343+1G>A];[2837T>G] or p.[? 24831256 2014