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 |
|---|---|---|---|
| RS1057519200 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone dystrophy |
| RS1289388105 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Inborn genetic diseases |
| RS1328030621 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS140904308 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS144704092 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS145896974 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 13, Leber congenital amaurosis 6, RPGRIP1-related disorder |
| RS1468976582 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS147586703 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Retinal dystrophy |
| RS150107283 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 6, Cone-rod dystrophy 13, RPGRIP1-related disorder |
| RS1594180201 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS1594204748 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS181758389 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Retinal dystrophy |
| RS184853466 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS185667326 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS186266220 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 13, Leber congenital amaurosis 6, RPGRIP1-related disorder |
| RS188318743 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS188660364 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Inborn genetic diseases |
| RS190490019 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 13, Leber congenital amaurosis 6, RPGRIP1-related disorder |
| RS199590641 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS200225522 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS200268506 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS200510462 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Retinal dystrophy |
| RS200657688 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS201186199 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS201384449 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS201838837 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS35810926 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS368181053 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS368434311 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS371312060 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS371762530 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS372186092 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS372615343 | Health Risk | Conflicting classifications of pathogenicity | Anophthalmia-microphthalmia syndrome, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS376517859 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS398124355 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS398124356 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS542859849 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS568372341 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS747355604 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Retinal dystrophy |
| RS749098397 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS751521888 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 1, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS756665749 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Inborn genetic diseases |
| RS758239674 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 1, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS759254680 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS760801598 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Cone-rod dystrophy 13 |
| RS768190736 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Inborn genetic diseases |
| RS768913743 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 13, Leber congenital amaurosis 6, Inborn genetic diseases |
| RS777877901 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 6, Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RS781728563 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 6, Leber congenital amaurosis, Retinitis pigmentosa |
| RS1057518122 | Health Risk | Likely pathogenic | Leber congenital amaurosis, Leber congenital amaurosis |