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 |
|---|---|---|---|
| RS1594224781 | Health Risk | Pathogenic | Retinitis pigmentosa, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS1881002905 | Health Risk | Pathogenic | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS1881077003 | Health Risk | Pathogenic | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS1881125294 | Health Risk | Pathogenic | — |
| RS1882904268 | Health Risk | Pathogenic | Leber congenital amaurosis 6, Leber congenital amaurosis 6 |
| RS1882946937 | Health Risk | Pathogenic | Leber congenital amaurosis 6, Leber congenital amaurosis 6 |
| RS1882968821 | Health Risk | Pathogenic | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS1883036406 | Health Risk | Pathogenic | Cone dystrophy, Cone dystrophy |
| RS1883254940 | Health Risk | Pathogenic | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS1884133804 | Health Risk | Pathogenic | Leber congenital amaurosis 6, Leber congenital amaurosis 6 |
| RS1885186332 | Health Risk | Pathogenic | Leber congenital amaurosis 6, Leber congenital amaurosis 6 |
| RS1885194108 | Health Risk | Pathogenic | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS1885757549 | Health Risk | Pathogenic | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS2139156519 | Health Risk | Pathogenic | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS2139160608 | Health Risk | Pathogenic | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS2139160679 | Health Risk | Pathogenic | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS2139168888 | Health Risk | Pathogenic | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS2139175288 | Health Risk | Pathogenic | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS2139176356 | Health Risk | Pathogenic | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS2139227650 | Health Risk | Pathogenic | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS2139228423 | Health Risk | Pathogenic | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS2139288271 | Health Risk | Pathogenic | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS2139350315 | Health Risk | Pathogenic | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS2502674313 | Health Risk | Pathogenic | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS2502690278 | Health Risk | Pathogenic | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS2502690439 | Health Risk | Pathogenic | — |
| RS2502710900 | Health Risk | Pathogenic | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS2502711239 | Health Risk | Pathogenic | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS2502723295 | Health Risk | Pathogenic | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS2502752916 | Health Risk | Pathogenic | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS2502753195 | Health Risk | Pathogenic | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS2502788956 | Health Risk | Pathogenic | — |
| RS2502811610 | Health Risk | Pathogenic | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS2502841290 | Health Risk | Pathogenic | — |
| RS2502847733 | Health Risk | Pathogenic | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS2502848608 | Health Risk | Pathogenic | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS2502950630 | Health Risk | Pathogenic | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS2502981606 | Health Risk | Pathogenic | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS368781265 | Health Risk | Pathogenic | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS375859404 | Health Risk | Pathogenic | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS398124354 | Health Risk | Pathogenic | Leber congenital amaurosis, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS554396590 | Health Risk | Pathogenic | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS565837539 | Health Risk | Pathogenic | Abnormality of the eye, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS577932201 | Health Risk | Pathogenic | Retinal dystrophy, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS587783012 | Health Risk | Pathogenic | Leber congenital amaurosis 6, Leber congenital amaurosis, Leber congenital amaurosis 6 |
| RS587783018 | Health Risk | Pathogenic | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS587783019 | Health Risk | Pathogenic | Leber congenital amaurosis 6, Leber congenital amaurosis 6 |
| RS61751265 | Health Risk | Pathogenic | Leber congenital amaurosis 6, Leber congenital amaurosis 6 |
| RS61751266 | Health Risk | Pathogenic | Leber congenital amaurosis 6, Leber congenital amaurosis, Cone-rod dystrophy 13 |
| RS61751270 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |