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
RS1571701069 Health Risk Pathogenic Usher syndrome type 2, Usher syndrome type 2A, Usher syndrome type 2
RS1571701243 Health Risk Pathogenic —
RS1571702193 Health Risk Pathogenic —
RS1571703770 Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1571774019 Health Risk Pathogenic USH2A-related disorder, USH2A-related disorder
RS1571801788 Health Risk Pathogenic Usher syndrome type 2A, Retinal dystrophy, Usher syndrome type 2A
RS1571805235 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1571928405 Health Risk Pathogenic —
RS1571929573 Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1571936130 Health Risk Pathogenic —
RS1571941589 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1571945476 Health Risk Pathogenic Usher syndrome type 2, Usher syndrome type 2
RS1571947978 Health Risk Pathogenic —
RS1571948114 Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1571949264 Health Risk Pathogenic —
RS1571953449 Health Risk Pathogenic Usher syndrome type 2, Usher syndrome type 2
RS1572020896 Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1572042090 Health Risk Pathogenic —
RS1572042851 Health Risk Pathogenic —
RS1572051012 Health Risk Pathogenic —
RS1572074292 Health Risk Pathogenic —
RS1572088248 Health Risk Pathogenic —
RS1572088481 Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1656408131 Health Risk Pathogenic —
RS1656646424 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1656647155 Health Risk Pathogenic —
RS1656892077 Health Risk Pathogenic —
RS1656938047 Health Risk Pathogenic —
RS1656942613 Health Risk Pathogenic Retinitis pigmentosa 39, Monogenic hearing loss, Retinitis pigmentosa 39
RS1656943603 Health Risk Pathogenic —
RS1656944247 Health Risk Pathogenic —
RS1657029417 Health Risk Pathogenic —
RS1657036615 Health Risk Pathogenic Usher syndrome type 2A, Retinal dystrophy, Usher syndrome type 2A
RS1657799383 Health Risk Pathogenic Usher syndrome type 2, Usher syndrome type 2
RS1657800056 Health Risk Pathogenic —
RS1657805631 Health Risk Pathogenic —
RS1657805957 Health Risk Pathogenic —
RS1657911759 Health Risk Pathogenic Ear malformation, Ear malformation
RS1657921221 Health Risk Pathogenic —
RS1657929865 Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1657950450 Health Risk Pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A, Retinitis pigmentosa 39
RS1657955465 Health Risk Pathogenic —
RS1657965422 Health Risk Pathogenic Usher syndrome type 2, Retinitis pigmentosa 39, Usher syndrome type 2
RS1657973895 Health Risk Pathogenic —
RS1657976232 Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 39, Retinal dystrophy
RS1657981723 Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1657987278 Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1657992030 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1657996197 Health Risk Pathogenic Usher syndrome type 2, Usher syndrome type 2A, Retinitis pigmentosa 39
RS1657997730 Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 39, Usher syndrome type 2A
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