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
RS775637851 Health Risk Pathogenic —
RS776587395 Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS777465132 Health Risk Pathogenic Rare genetic deafness, Usher syndrome, Usher syndrome type 2A
RS777589855 Health Risk Pathogenic —
RS779155693 Health Risk Pathogenic —
RS779572631 Health Risk Pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A, Retinal dystrophy
RS780779563 Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Retinal dystrophy
RS781223647 Health Risk Pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A, Retinal dystrophy
RS786205115 Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS786205116 Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS79279902 Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS794727830 Health Risk Pathogenic —
RS794729203 Health Risk Pathogenic Usher syndrome, Usher syndrome
RS797045113 Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS80338902 Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa, Usher syndrome type 2A
RS80338903 Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa, Retinitis pigmentosa 39
RS863224941 Health Risk Pathogenic Usher syndrome type 2A, Retinal dystrophy, Usher syndrome type 2A
RS866978361 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS868562952 Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Retinal dystrophy
RS869312179 Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome type 2A
RS876657730 Health Risk Pathogenic Rare genetic deafness, Retinitis pigmentosa 39, Usher syndrome type 2A
RS876657731 Health Risk Pathogenic Rare genetic deafness, Usher syndrome type 2, Retinal dystrophy
RS876657732 Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS878853233 Health Risk Pathogenic Nonsyndromic genetic hearing loss, Usher syndrome type 2A, Nonsyndromic genetic hearing loss
RS878853404 Health Risk Pathogenic Retinal dystrophy, Usher syndrome type 2A, Retinal dystrophy
RS878853407 Health Risk Pathogenic Retinal dystrophy, Usher syndrome type 2A, Retinitis pigmentosa 39
RS878853413 Health Risk Pathogenic Retinal dystrophy, Usher syndrome, Usher syndrome type 2A
RS886039450 Health Risk Pathogenic Usher syndrome, Usher syndrome type 2A, Retinitis pigmentosa 39
RS886042722 Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS886042766 Health Risk Pathogenic —
RS886044060 Health Risk Pathogenic —
RS887496752 Health Risk Pathogenic —
RS919142559 Health Risk Pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A, Usher syndrome type 2A
RS935176131 Health Risk Pathogenic —
RS942584750 Health Risk Pathogenic —
RS948087886 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 39, Retinitis pigmentosa
RS949082769 Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS966964402 Health Risk Pathogenic —
RS969737676 Health Risk Pathogenic —
RS970237364 Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome type 2A
RS993185407 Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Retinal dystrophy
RS1035024403 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Usher syndrome type 2A, Retinitis pigmentosa 39
RS1053812278 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinal dystrophy, Retinitis pigmentosa 39
RS1057517533 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A, Retinal dystrophy
RS1057517844 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 39, Retinal dystrophy
RS1057518826 Health Risk Pathogenic/Likely pathogenic Congenital sensorineural hearing impairment, Usher syndrome type 2A, Usher syndrome type 2A
RS1064793287 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Usher syndrome, Rare genetic deafness
RS1064793289 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 39, Usher syndrome type 2A
RS1064795279 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1064797133 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa 39
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