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
RS397518012 Health Risk Pathogenic Usher syndrome type 2A, Rare genetic deafness, Usher syndrome type 2A
RS397518015 Health Risk Pathogenic Rare genetic deafness, Usher syndrome type 2A, Rare genetic deafness
RS397518018 Health Risk Pathogenic Rare genetic deafness, Retinitis pigmentosa 39, Rare genetic deafness
RS397518029 Health Risk Pathogenic Rare genetic deafness, Usher syndrome type 2A, Retinitis pigmentosa 39
RS397518039 Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa, Usher syndrome
RS397518042 Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS397518043 Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome
RS397518046 Health Risk Pathogenic Rare genetic deafness, Retinitis pigmentosa 39, Rare genetic deafness
RS398124618 Health Risk Pathogenic Retinitis pigmentosa 39, Retinal dystrophy, Usher syndrome type 2A
RS398124619 Health Risk Pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A, Retinal dystrophy
RS41308425 Health Risk Pathogenic Rare genetic deafness, Usher syndrome type 2A, Retinitis pigmentosa 39
RS41314534 Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Retinal disorder
RS483353054 Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Retinal dystrophy
RS483353055 Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Cone-rod dystrophy
RS527236118 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS527236135 Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS529355834 Health Risk Pathogenic —
RS534534437 Health Risk Pathogenic Usher syndrome, Retinal dystrophy, Retinitis pigmentosa 39
RS539192853 Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy, Usher syndrome
RS549931193 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS553833861 Health Risk Pathogenic —
RS556882699 Health Risk Pathogenic —
RS55921307 Health Risk Pathogenic —
RS55958016 Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa 39
RS587776538 Health Risk Pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A, Retinitis pigmentosa 39
RS727503715 Health Risk Pathogenic Rare genetic deafness, Retinal dystrophy, Retinitis pigmentosa 39
RS727503731 Health Risk Pathogenic Rare genetic deafness, Retinitis pigmentosa, Usher syndrome
RS727503736 Health Risk Pathogenic Rare genetic deafness, Retinitis pigmentosa 39, Usher syndrome type 2A
RS727504608 Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS727504867 Health Risk Pathogenic Rare genetic deafness, Usher syndrome type 2A, Retinitis pigmentosa 39
RS727504893 Health Risk Pathogenic Rare genetic deafness, Retinitis pigmentosa 39, Usher syndrome
RS727505116 Health Risk Pathogenic Retinitis pigmentosa, Usher syndrome, Retinitis pigmentosa 39
RS727505337 Health Risk Pathogenic Rare genetic deafness, Retinitis pigmentosa, Usher syndrome type 2A
RS730880349 Health Risk Pathogenic Rare genetic deafness, Usher syndrome type 2A, Retinitis pigmentosa 39
RS73090721 Health Risk Pathogenic Rare genetic deafness, Retinitis pigmentosa 39, Usher syndrome type 2A
RS745371873 Health Risk Pathogenic —
RS746551311 Health Risk Pathogenic Retinitis pigmentosa, Usher syndrome type 2A, Retinitis pigmentosa 39
RS747063294 Health Risk Pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A, Retinal dystrophy
RS747160949 Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Retinal dystrophy
RS747581764 Health Risk Pathogenic —
RS748383863 Health Risk Pathogenic —
RS748863844 Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS749702843 Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome type 2A
RS749726310 Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Retinal dystrophy
RS750228923 Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Retinal dystrophy
RS751117857 Health Risk Pathogenic —
RS751130485 Health Risk Pathogenic Usher syndrome type 2A, Retinal dystrophy, Retinitis pigmentosa 39
RS751176116 Health Risk Pathogenic Rare genetic deafness, Usher syndrome type 2A, Retinitis pigmentosa 39
RS751411512 Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS751414710 Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
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