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
RS1553257502 Health Risk Likely pathogenic Usher syndrome, Usher syndrome
RS1553257685 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1553257707 Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Retinal dystrophy
RS1553258076 Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553259060 Health Risk Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553259179 Health Risk Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553261118 Health Risk Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553261387 Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553261476 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553262411 Health Risk Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553263572 Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1553263639 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1553265829 Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553268435 Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553268562 Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1553268594 Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553270954 Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553272035 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1553273421 Health Risk Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A, Usher syndrome type 2A
RS1553274435 Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553274531 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1553281890 Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553282698 Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553282707 Health Risk Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553285970 Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553287116 Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553287118 Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553297684 Health Risk Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553299046 Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553299079 Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Retinal dystrophy
RS1553300340 Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553313340 Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553313505 Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553316430 Health Risk Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A, Retinitis pigmentosa 39
RS1558038124 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1558141330 Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1558366840 Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1571626731 Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1571681377 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1571701072 Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1571715796 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1571762632 Health Risk Likely pathogenic Usher syndrome type 2, Usher syndrome type 2
RS1571801514 Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1571801564 Health Risk Likely pathogenic —
RS1571805164 Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1571876788 Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome type 2A
RS1571941465 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1571941511 Health Risk Likely pathogenic Usher syndrome type 2, Usher syndrome type 2
RS1571945537 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1571947757 Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
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