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
RS775203541 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS775293551 Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Retinal dystrophy
RS777011507 Health Risk Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 39, Usher syndrome type 2A
RS777701725 Health Risk Likely pathogenic Usher syndrome type 2, Usher syndrome type 2
RS777733968 Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS778196484 Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS778336512 Health Risk Likely pathogenic Retinitis pigmentosa, Usher syndrome type 2A, Retinitis pigmentosa 39
RS781195579 Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS781625683 Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS786205452 Health Risk Likely pathogenic —
RS794727408 Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS80338904 Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa, Retinitis pigmentosa 39
RS869312180 Health Risk Likely pathogenic Usher syndrome type 2A, Retinal dystrophy, Retinitis pigmentosa 39
RS869312186 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS878853408 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS878853414 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS886039867 Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Retinal dystrophy
RS886041502 Health Risk Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A, Retinal dystrophy
RS979037444 Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1003869920 Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa 39
RS1005235415 Health Risk Pathogenic —
RS1045789152 Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1046881798 Health Risk Pathogenic —
RS1052194170 Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1057519193 Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Retinal dystrophy
RS1064793506 Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS111033264 Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome, Retinitis pigmentosa 39
RS111033272 Health Risk Pathogenic Usher syndrome type 2A, Abnormal macular morphology, Pigmentary retinopathy
RS111033280 Health Risk Pathogenic Usher syndrome, Usher syndrome type 2A, Retinitis pigmentosa 39
RS111033334 Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Rare genetic deafness
RS111033364 Health Risk Pathogenic Usher syndrome type 2A, Hearing impairment, Retinitis pigmentosa 39
RS111033367 Health Risk Pathogenic Usher syndrome type 2A, USH2A-related disorder, Usher syndrome
RS111033386 Health Risk Pathogenic Rare genetic deafness, Retinal dystrophy, Usher syndrome type 2A
RS111033414 Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS111033472 Health Risk Pathogenic —
RS111033518 Health Risk Pathogenic Retinitis pigmentosa 39, Usher syndrome, Retinal dystrophy
RS1157732943 Health Risk Pathogenic —
RS1167455690 Health Risk Pathogenic —
RS1171672823 Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome
RS1180119632 Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1181345434 Health Risk Pathogenic USH2A-related disorder, USH2A-related disorder
RS1188025733 Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39, Retinal dystrophy
RS1192363193 Health Risk Pathogenic —
RS1192539262 Health Risk Pathogenic —
RS1192810508 Health Risk Pathogenic —
RS1195403033 Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1200661394 Health Risk Pathogenic Usher syndrome, Usher syndrome
RS1201446573 Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1202573136 Health Risk Pathogenic —
RS1206374036 Health Risk Pathogenic —
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