RP2 Chromosome X

RP2 activator of ARL3 GTPase
152 variants 152 Health Risk

Upload your DNA to see your personal genotypes for variants in RP2.

What This Gene Does
The RP2 locus has been implicated as one cause of X-linked retinitis pigmentosa. The predicted gene product shows homology with human cofactor C, a protein involved in the ultimate step of beta-tubulin folding. Progressive retinal degeneration may therefore be due to the accumulation of incorrectly-folded photoreceptor or neuron-specific tubulin isoforms followed by progressive cell death [provided by RefSeq, Jul 2008]
Associated Conditions (15)
Retinitis pigmentosa 2
Retinal dystrophy
Macular dystrophy
Cone-rod dystrophy
Retinitis pigmentosa 3
Inborn genetic diseases
Retinitis pigmentosa
Abnormality of the eye
Leber congenital amaurosis
X-linked retinitis pigmentosa
Thyroid cancer
nonmedullary
1
Nonpapillary renal cell carcinoma
Retinal disorder
Key Variants
RS1000426939
Conflicting classifications of pathogenicity
Retinitis pigmentosa 2, Retinitis pigmentosa 2
Health Risk
RS1201646093
Conflicting classifications of pathogenicity
Health Risk
RS1227276668
Conflicting classifications of pathogenicity
Retinitis pigmentosa 2, Retinal dystrophy, Retinitis pigmentosa 2
Health Risk
RS1556313414
Conflicting classifications of pathogenicity
Macular dystrophy, Retinal dystrophy, Cone-rod dystrophy
Health Risk
RS1602354996
Conflicting classifications of pathogenicity
Retinitis pigmentosa 3, Retinal dystrophy, Retinitis pigmentosa 2
Health Risk
RS1924908706
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS200720598
Conflicting classifications of pathogenicity
Inborn genetic diseases, Retinitis pigmentosa 2, Inborn genetic diseases
Health Risk
RS2147081192
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS2519914044
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS3126141
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS781936550
Conflicting classifications of pathogenicity
Retinal dystrophy, Inborn genetic diseases, Retinal dystrophy
Health Risk
RS781941648
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
All Variants (152)
RSID Category Clinical Significance Conditions
RS1000426939 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 2, Retinitis pigmentosa 2
RS1201646093 Health Risk Conflicting classifications of pathogenicity —
RS1227276668 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 2, Retinal dystrophy, Retinitis pigmentosa 2
RS1556313414 Health Risk Conflicting classifications of pathogenicity Macular dystrophy, Retinal dystrophy, Cone-rod dystrophy
RS1602354996 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 3, Retinal dystrophy, Retinitis pigmentosa 2
RS1924908706 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS200720598 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Retinitis pigmentosa 2, Inborn genetic diseases
RS2147081192 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS2519914044 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS3126141 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781936550 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Inborn genetic diseases, Retinal dystrophy
RS781941648 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS781981286 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782103396 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 2, Retinitis pigmentosa
RS782164955 Health Risk Conflicting classifications of pathogenicity —
RS782190396 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS782195010 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782344765 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 2, Retinal dystrophy, Retinitis pigmentosa 2
RS782387061 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782402689 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS782775255 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1064797368 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS137852284 Health Risk Likely pathogenic Retinitis pigmentosa 2, Retinitis pigmentosa, Retinitis pigmentosa 2
RS1428719874 Health Risk Likely pathogenic Retinitis pigmentosa 2, Retinitis pigmentosa 2
RS1556313447 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1556313474 Health Risk Likely pathogenic Abnormality of the eye, Abnormality of the eye
RS1556313552 Health Risk Likely pathogenic Leber congenital amaurosis, Retinitis pigmentosa 3, Leber congenital amaurosis
RS1556313557 Health Risk Likely pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS1556318627 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1556318633 Health Risk Likely pathogenic Retinal dystrophy, Retinitis pigmentosa, X-linked retinitis pigmentosa
RS1602347792 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1602347992 Health Risk Likely pathogenic Retinitis pigmentosa 2, Retinitis pigmentosa 2
RS1602349705 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1924521211 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1924895234 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1924896735 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1924897230 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1924898105 Health Risk Likely pathogenic —
RS1924901288 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1924915809 Health Risk Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 2, Thyroid cancer
RS1925035156 Health Risk Likely pathogenic —
RS1925035229 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2147081133 Health Risk Likely pathogenic Retinitis pigmentosa 2, Retinitis pigmentosa 2
RS2147081422 Health Risk Likely pathogenic Retinitis pigmentosa 2, Retinitis pigmentosa 2
RS2147081596 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2519913683 Health Risk Likely pathogenic —
RS2519913940 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2519914078 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2519914113 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2519914307 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
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