USH2A Chromosome 1
Usherin
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 |
|---|---|---|---|
| RS1209497158 | Health Risk | Pathogenic | — |
| RS1212608410 | Health Risk | Pathogenic | Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome type 2A |
| RS121912598 | Health Risk | Pathogenic | Usher syndrome type 2A, Usher syndrome type 2A |
| RS121912599 | Health Risk | Pathogenic | Usher syndrome type 2A, Usher syndrome, Retinal dystrophy |
| RS121912600 | Health Risk | Pathogenic | Usher syndrome type 2A, Usher syndrome, USH2A-related disorder |
| RS1219505844 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1232818145 | Health Risk | Pathogenic | — |
| RS1238086961 | Health Risk | Pathogenic | Usher syndrome type 2A, Usher syndrome type 2A |
| RS1238314101 | Health Risk | Pathogenic | Leber congenital amaurosis, Leber congenital amaurosis |
| RS1242150130 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1253596843 | Health Risk | Pathogenic | — |
| RS1255535680 | Health Risk | Pathogenic | — |
| RS1259115799 | Health Risk | Pathogenic | — |
| RS1290334951 | Health Risk | Pathogenic | — |
| RS1293202153 | Health Risk | Pathogenic | Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome type 2A |
| RS1293619630 | Health Risk | Pathogenic | Usher syndrome, Retinitis pigmentosa 39, Usher syndrome type 2A |
| RS1297827509 | Health Risk | Pathogenic | — |
| RS1302722012 | Health Risk | Pathogenic | — |
| RS1305146157 | Health Risk | Pathogenic | — |
| RS1308702971 | Health Risk | Pathogenic | Retinitis pigmentosa 39, Usher syndrome, Usher syndrome type 2A |
| RS1308924086 | Health Risk | Pathogenic | — |
| RS1315543696 | Health Risk | Pathogenic | — |
| RS1325668081 | Health Risk | Pathogenic | — |
| RS1328841882 | Health Risk | Pathogenic | — |
| RS1338169194 | Health Risk | Pathogenic | Usher syndrome, Retinitis pigmentosa 39, Usher syndrome |
| RS1343780391 | Health Risk | Pathogenic | Usher syndrome, Usher syndrome type 2A, Retinitis pigmentosa 39 |
| RS1344390541 | Health Risk | Pathogenic | — |
| RS1349682845 | Health Risk | Pathogenic | Retinitis pigmentosa 39, Retinitis pigmentosa 39 |
| RS1351926905 | Health Risk | Pathogenic | — |
| RS1352316880 | Health Risk | Pathogenic | — |
| RS1358947010 | Health Risk | Pathogenic | Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome |
| RS1362058696 | Health Risk | Pathogenic | Usher syndrome, Retinitis pigmentosa 39, Usher syndrome type 2A |
| RS1363689100 | Health Risk | Pathogenic | Retinitis pigmentosa 39, Retinitis pigmentosa 39 |
| RS1364214310 | Health Risk | Pathogenic | — |
| RS1364987785 | Health Risk | Pathogenic | Usher syndrome type 2, Retinitis pigmentosa 39, USH2A-related disorder |
| RS1368784894 | Health Risk | Pathogenic | — |
| RS1371160062 | Health Risk | Pathogenic | Retinal dystrophy, Retinitis pigmentosa 39, Retinal dystrophy |
| RS1371262635 | Health Risk | Pathogenic | — |
| RS1377434894 | Health Risk | Pathogenic | — |
| RS1380141085 | Health Risk | Pathogenic | — |
| RS1386612395 | Health Risk | Pathogenic | Usher syndrome type 2A, Retinitis pigmentosa, Retinal dystrophy |
| RS1388161283 | Health Risk | Pathogenic | — |
| RS139311927 | Health Risk | Pathogenic | Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome |
| RS1394737087 | Health Risk | Pathogenic | Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome type 2A |
| RS1400277861 | Health Risk | Pathogenic | Usher syndrome type 2A, Usher syndrome type 2A |
| RS1407860955 | Health Risk | Pathogenic | — |
| RS142282413 | Health Risk | Pathogenic | Usher syndrome, Usher syndrome |
| RS1424639717 | Health Risk | Pathogenic | Retinal dystrophy, Usher syndrome type 2A, Retinitis pigmentosa 39 |
| RS1426135314 | Health Risk | Pathogenic | Usher syndrome type 2A, Usher syndrome type 2A |
| RS1430838005 | Health Risk | Pathogenic | — |