RPGRIP1 Chromosome 14
RPGR interacting protein 1
Upload your DNA to see your personal genotypes for variants in RPGRIP1.
What This Gene Does
This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness. [provided by RefSeq, Oct 2008]
Gene Info
Gene Group
C2 domain containing
Locus Type
gene with protein product
Location
14q11.2
Ensembl
ENSG00000092200
Associated Conditions (21)
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Cone dystrophy
Retinal dystrophy
Inborn genetic diseases
Retinitis pigmentosa
RPGRIP1-related disorder
Cone-rod dystrophy
Optic atrophy
Thyroid cancer
nonmedullary
1
Anophthalmia-microphthalmia syndrome
Leber congenital amaurosis 1
Leber congenital amaurosis
Horizontal nystagmus
Color vision defect
Visual impairment
Retinal disorder
Abnormality of the eye
+1 more conditions
Key Variants
RS1057519200
Conflicting classifications of pathogenicity
Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone dystrophy
Health Risk
RS1289388105
Conflicting classifications of pathogenicity
Cone-rod dystrophy 13, Leber congenital amaurosis 6, Inborn genetic diseases
Health Risk
RS1328030621
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS140904308
Conflicting classifications of pathogenicity
Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13
Health Risk
RS144704092
Conflicting classifications of pathogenicity
Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13
Health Risk
RS145896974
Conflicting classifications of pathogenicity
Cone-rod dystrophy 13, Leber congenital amaurosis 6, RPGRIP1-related disorder
Health Risk
RS1468976582
Conflicting classifications of pathogenicity
Leber congenital amaurosis 6, Cone-rod dystrophy 13, Leber congenital amaurosis 6
Health Risk
RS147586703
Conflicting classifications of pathogenicity
Cone-rod dystrophy 13, Leber congenital amaurosis 6, Retinal dystrophy
Health Risk
RS150107283
Conflicting classifications of pathogenicity
Leber congenital amaurosis 6, Cone-rod dystrophy 13, RPGRIP1-related disorder
Health Risk
RS1594180201
Conflicting classifications of pathogenicity
Cone-rod dystrophy, Leber congenital amaurosis 6, Cone-rod dystrophy 13
Health Risk
RS1594204748
Conflicting classifications of pathogenicity
Cone-rod dystrophy, Leber congenital amaurosis 6, Cone-rod dystrophy 13
Health Risk
RS181758389
Conflicting classifications of pathogenicity
Cone-rod dystrophy 13, Leber congenital amaurosis 6, Retinal dystrophy
Health Risk
All Variants (189)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1167313603 | Health Risk | Likely pathogenic | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS1416794391 | Health Risk | Likely pathogenic | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS1555302200 | Health Risk | Likely pathogenic | Retinal dystrophy, Horizontal nystagmus, Color vision defect |
| RS1555303320 | Health Risk | Likely pathogenic | Leber congenital amaurosis, Leber congenital amaurosis |
| RS1594203796 | Health Risk | Likely pathogenic | Leber congenital amaurosis 6, Leber congenital amaurosis 6 |
| RS1594214013 | Health Risk | Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1740380459 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1880999471 | Health Risk | Likely pathogenic | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS1882854195 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1882945917 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1883031542 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1883084009 | Health Risk | Likely pathogenic | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS1885763952 | Health Risk | Likely pathogenic | Leber congenital amaurosis 6, Leber congenital amaurosis 6 |
| RS200968268 | Health Risk | Likely pathogenic | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS2139160690 | Health Risk | Likely pathogenic | Leber congenital amaurosis 6, Leber congenital amaurosis 6 |
| RS2139237156 | Health Risk | Likely pathogenic | — |
| RS2502705961 | Health Risk | Likely pathogenic | Leber congenital amaurosis 6, Leber congenital amaurosis 6 |
| RS2502980632 | Health Risk | Likely pathogenic | Leber congenital amaurosis, Leber congenital amaurosis |
| RS28937883 | Health Risk | Likely pathogenic | Cone-rod dystrophy 13, Retinal dystrophy, Cone-rod dystrophy 13 |
| RS371900300 | Health Risk | Likely pathogenic | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Retinal dystrophy |
| RS374188857 | Health Risk | Likely pathogenic | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS546692544 | Health Risk | Likely pathogenic | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS61751268 | Health Risk | Likely pathogenic | Leber congenital amaurosis 6, Leber congenital amaurosis 6 |
| RS765001696 | Health Risk | Likely pathogenic | Leber congenital amaurosis 6, Leber congenital amaurosis 6 |
| RS771106795 | Health Risk | Likely pathogenic | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS773592041 | Health Risk | Likely pathogenic | — |
| RS780733881 | Health Risk | Likely pathogenic | Leber congenital amaurosis 6, Leber congenital amaurosis 6 |
| RS786205623 | Health Risk | Likely pathogenic | Leber congenital amaurosis 6, Leber congenital amaurosis 6 |
| RS863224913 | Health Risk | Likely pathogenic | Cone-rod dystrophy 13, Cone-rod dystrophy 13 |
| RS878853390 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS878853391 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS886039911 | Health Risk | Likely pathogenic | Leber congenital amaurosis 6, Leber congenital amaurosis 6 |
| RS970696880 | Health Risk | Likely pathogenic | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS1225223445 | Health Risk | Pathogenic | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS1233376985 | Health Risk | Pathogenic | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS1279095388 | Health Risk | Pathogenic | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS1324633537 | Health Risk | Pathogenic | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS1325103400 | Health Risk | Pathogenic | Leber congenital amaurosis 6, Leber congenital amaurosis 6 |
| RS1348586850 | Health Risk | Pathogenic | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS1371805993 | Health Risk | Pathogenic | Retinitis pigmentosa, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS137853124 | Health Risk | Pathogenic | Leber congenital amaurosis 6, Leber congenital amaurosis, Leber congenital amaurosis 6 |
| RS1391335025 | Health Risk | Pathogenic | Leber congenital amaurosis 6, Leber congenital amaurosis 6 |
| RS1412625438 | Health Risk | Pathogenic | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS1439947338 | Health Risk | Pathogenic | Leber congenital amaurosis, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS1555302710 | Health Risk | Pathogenic | Retinitis pigmentosa, Leber congenital amaurosis 6, Leber congenital amaurosis |
| RS1566341956 | Health Risk | Pathogenic | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS1566674809 | Health Risk | Pathogenic | Leber congenital amaurosis 6, Leber congenital amaurosis 6 |
| RS1566674893 | Health Risk | Pathogenic | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS1594180177 | Health Risk | Pathogenic | Leber congenital amaurosis 6, Leber congenital amaurosis 6 |
| RS1594202505 | Health Risk | Pathogenic | Leber congenital amaurosis 6, Leber congenital amaurosis 6 |