RPGRIP1 Chromosome 14
RPGR interacting protein 1
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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 |
|---|---|---|---|
| RS61751271 | Health Risk | Pathogenic | Leber congenital amaurosis 6, Leber congenital amaurosis 6 |
| RS748072501 | Health Risk | Pathogenic | Leber congenital amaurosis 6, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS750815560 | Health Risk | Pathogenic | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS751096098 | Health Risk | Pathogenic | Leber congenital amaurosis 6, Leber congenital amaurosis 6 |
| RS752175052 | Health Risk | Pathogenic | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS75459701 | Health Risk | Pathogenic | Cone-rod dystrophy 13, Leber congenital amaurosis 6, RPGRIP1-related disorder |
| RS758678811 | Health Risk | Pathogenic | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS759940113 | Health Risk | Pathogenic | Leber congenital amaurosis, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS763671264 | Health Risk | Pathogenic | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS766443371 | Health Risk | Pathogenic | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS768719934 | Health Risk | Pathogenic | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS771116776 | Health Risk | Pathogenic | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Cone-rod dystrophy 13 |
| RS772090790 | Health Risk | Pathogenic | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS774271975 | Health Risk | Pathogenic | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS775425686 | Health Risk | Pathogenic | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS776698746 | Health Risk | Pathogenic | Leber congenital amaurosis 6, Leber congenital amaurosis 6 |
| RS776880045 | Health Risk | Pathogenic | Leber congenital amaurosis, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS776963292 | Health Risk | Pathogenic | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS780587095 | Health Risk | Pathogenic | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS780667159 | Health Risk | Pathogenic | Leber congenital amaurosis, Leber congenital amaurosis 1, Leber congenital amaurosis 6 |
| RS878853389 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS878853392 | Health Risk | Pathogenic | Retinal dystrophy, Leber congenital amaurosis 6, Retinal dystrophy |
| RS1030149008 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS1064797182 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 6, Leber congenital amaurosis, Cone-rod dystrophy 13 |
| RS1181453325 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS1420750126 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Leber congenital amaurosis |
| RS1429786931 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS1594280740 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 6, Retinal dystrophy, Cone-rod dystrophy 13 |
| RS1594280914 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS1739469293 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS192003551 | Health Risk | Pathogenic/Likely pathogenic | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Retinitis pigmentosa |
| RS376500610 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS535695411 | Health Risk | Pathogenic/Likely pathogenic | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS535922252 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS745741473 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Cone-rod dystrophy 13, Leber congenital amaurosis |
| RS751342895 | Health Risk | Pathogenic/Likely pathogenic | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Leber congenital amaurosis |
| RS752263228 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 6, Retinal dystrophy, Cone-rod dystrophy 13 |
| RS775935766 | Health Risk | Pathogenic/Likely pathogenic | Cone-rod dystrophy 13, Leber congenital amaurosis 6, RPGRIP1-related disorder |
| RS776289402 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 6, Retinal dystrophy, Cone-rod dystrophy 13 |