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
RS753226272 Health Risk Pathogenic —
RS753908845 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS754104931 Health Risk Pathogenic —
RS754768875 Health Risk Pathogenic Usher syndrome type 2A, Leber congenital amaurosis, Retinitis pigmentosa
RS754970095 Health Risk Pathogenic Retinitis pigmentosa, Usher syndrome type 2A, Retinitis pigmentosa 39
RS755099565 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS755218835 Health Risk Pathogenic Retinitis pigmentosa 39, Retinal dystrophy, Retinitis pigmentosa 39
RS755849157 Health Risk Pathogenic —
RS755867377 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS756623509 Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Retinal dystrophy
RS758571672 Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome
RS758660532 Health Risk Pathogenic Retinal dystrophy, Usher syndrome type 2A, Usher syndrome
RS758705873 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS758788078 Health Risk Pathogenic —
RS759255743 Health Risk Pathogenic —
RS760225886 Health Risk Pathogenic Rare genetic deafness, Retinitis pigmentosa 39, Retinal dystrophy
RS760302201 Health Risk Pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A, Retinal dystrophy
RS760858249 Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome type 2A
RS762482370 Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS762837293 Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS763301021 Health Risk Pathogenic —
RS763385498 Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS763389877 Health Risk Pathogenic USH2A-related disorder, Usher syndrome, USH2A-related disorder
RS764113446 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS764797292 Health Risk Pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A, Usher syndrome
RS765476745 Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome type 2A
RS766108245 Health Risk Pathogenic Usher syndrome, Usher syndrome
RS766491471 Health Risk Pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A, Retinitis pigmentosa 39
RS767078782 Health Risk Pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A, Usher syndrome
RS767328784 Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS767501966 Health Risk Pathogenic —
RS767613433 Health Risk Pathogenic —
RS767742135 Health Risk Pathogenic —
RS767797828 Health Risk Pathogenic Deafness, Hearing loss, autosomal recessive
RS768062696 Health Risk Pathogenic Usher syndrome type 2, Usher syndrome type 2A, Retinal dystrophy
RS768367348 Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS769198746 Health Risk Pathogenic Retinal dystrophy, Usher syndrome type 2A, Retinitis pigmentosa 39
RS769582796 Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS770293341 Health Risk Pathogenic —
RS770658506 Health Risk Pathogenic —
RS770984400 Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS771072859 Health Risk Pathogenic —
RS771260365 Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS773132672 Health Risk Pathogenic Usher syndrome, Usher syndrome
RS773417196 Health Risk Pathogenic USH2A-related disorder, USH2A-related disorder
RS773462133 Health Risk Pathogenic —
RS773539640 Health Risk Pathogenic Retinitis pigmentosa 39, Retinal dystrophy, Usher syndrome type 2A
RS773875669 Health Risk Pathogenic —
RS773927620 Health Risk Pathogenic —
RS774759345 Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome, Usher syndrome type 2A
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