USH2A Chromosome 1

Usherin
2089 variants 2089 Health Risk

Upload your DNA to see your personal genotypes for variants in USH2A.

What This Gene Does
This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
Gene Info
Gene Group
"Fibronectin type III domain containing|USH2 complex"
Locus Type
gene with protein product
Location
1q41
Ensembl
ENSG00000042781
Associated Conditions (47)
Retinal dystrophy
Retinitis pigmentosa
Usher syndrome type 2A
Retinitis pigmentosa 39
Usher syndrome
Usher syndrome type 2
Inborn genetic diseases
USH2A-related disorder
Cone-rod dystrophy
Retinal disorder
Childhood onset hearing loss
Hearing impairment
Lung cancer
Stargardt-like macular dystrophy
Monogenic hearing loss
Rare genetic deafness
8 conditions
Progressive cone dystrophy (without rod involvement)
Clear cell carcinoma of kidney
Melanoma
+27 more conditions
Key Variants
RS1012665311
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS1026326311
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS1037325220
Conflicting classifications of pathogenicity
Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome type 2A
Health Risk
RS1052375050
Conflicting classifications of pathogenicity
Usher syndrome, Usher syndrome
Health Risk
RS1064794034
Conflicting classifications of pathogenicity
Health Risk
RS1064797129
Conflicting classifications of pathogenicity
Usher syndrome type 2, Usher syndrome type 2
Health Risk
RS1064797130
Conflicting classifications of pathogenicity
Usher syndrome type 2, Usher syndrome type 2
Health Risk
RS1064797137
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS111033248
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Usher syndrome type 2A, Inborn genetic diseases
Health Risk
RS111033275
Conflicting classifications of pathogenicity
Usher syndrome type 2A, Retinal dystrophy, USH2A-related disorder
Health Risk
RS111033395
Conflicting classifications of pathogenicity
Usher syndrome type 2, Retinitis pigmentosa 39, Usher syndrome type 2
Health Risk
RS111033402
Conflicting classifications of pathogenicity
Usher syndrome type 2A, Retinitis pigmentosa 39, Retinal dystrophy
Health Risk
All Variants (2089)
RSID Category Clinical Significance Conditions
RS2464892983 Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464893776 Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464894173 Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464894203 Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2464894738 Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464894863 Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464895063 Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2464896029 Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome type 2A
RS2464896591 Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464896721 Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464897606 Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464897719 Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2464899060 Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464900186 Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464900334 Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464900474 Health Risk Likely pathogenic Retinal dystrophy, Usher syndrome type 2A, Retinitis pigmentosa 39
RS2464900592 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2464914741 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2464914796 Health Risk Likely pathogenic Usher syndrome, Usher syndrome
RS2465049265 Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2465049992 Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2465050068 Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2465050181 Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2465050419 Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2465067498 Health Risk Likely pathogenic —
RS2465067641 Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2465070140 Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2465070264 Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2465089267 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2465089350 Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2465090947 Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2465090971 Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2465097947 Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2465098088 Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527429907 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2527429954 Health Risk Likely pathogenic —
RS2527433418 Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527433665 Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2527433750 Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527434001 Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2527434028 Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2527434040 Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527434089 Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527434136 Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2527434580 Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527436136 Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527436614 Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2527439613 Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527439716 Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527439727 Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
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