USH2A Chromosome 1

Usherin
2089 variants 2089 Health Risk

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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
RS1433783445 Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1438496892 Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome type 2A
RS1441350225 Health Risk Pathogenic —
RS1448248120 Health Risk Pathogenic —
RS145742052 Health Risk Pathogenic —
RS1458938381 Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1460472883 Health Risk Pathogenic —
RS146733615 Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Rare genetic deafness
RS1485393201 Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 39, Retinal dystrophy
RS149877542 Health Risk Pathogenic —
RS1553249452 Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553250050 Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1553250786 Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553250952 Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Retinal dystrophy
RS1553252343 Health Risk Pathogenic —
RS1553252469 Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553253747 Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1553257498 Health Risk Pathogenic Retinitis pigmentosa, Usher syndrome type 2A, Retinitis pigmentosa
RS1553258031 Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1553258097 Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome type 2
RS1553261478 Health Risk Pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553268434 Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553270960 Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Retinal dystrophy
RS1553271001 Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Retinal dystrophy
RS1553273330 Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Retinal dystrophy
RS1553277866 Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553285944 Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553313551 Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1553313793 Health Risk Pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553313844 Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553320542 Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1553327452 Health Risk Pathogenic Usher syndrome, Usher syndrome
RS1558036860 Health Risk Pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A, Monogenic hearing loss
RS1558037018 Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1558049084 Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1558078416 Health Risk Pathogenic Usher syndrome type 2, Usher syndrome type 2
RS1558081965 Health Risk Pathogenic —
RS1558095403 Health Risk Pathogenic —
RS1558111861 Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1558146243 Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1558151555 Health Risk Pathogenic Usher syndrome type 2A, Ear malformation, Retinitis pigmentosa 39
RS1558229491 Health Risk Pathogenic —
RS1558249837 Health Risk Pathogenic —
RS1558310707 Health Risk Pathogenic —
RS1558317386 Health Risk Pathogenic —
RS1558341791 Health Risk Pathogenic —
RS1571623023 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1571657777 Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1571657875 Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1571686349 Health Risk Pathogenic Usher syndrome type 2, Usher syndrome type 2
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