Gene entry
RPGR
retinitis pigmentosa GTPase regulator
- Chromosome
- X
- Cytoband
- Xp11.4
- Variants (rsID)
- 59
RPGR is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xp11.4). Its official name is “retinitis pigmentosa GTPase regulator”. The reference table lists 59 variants (rsID) for this gene.
Clinically classified variants
43 reference-table entries with clinical significance.
- rs12687163Benignsingle nucleotide variantPrimary ciliary dyskinesia
- rs12688514Benignsingle nucleotide variantPrimary ciliary dyskinesia
- rs1801686Benignsingle nucleotide variantPrimary ciliary dyskinesia|X-linked cone-rod dystrophy 1|Macular degeneration, X-linked atrophic|Retinitis pigmentosa 3
- rs1801687Benignsingle nucleotide variantPrimary ciliary dyskinesia
- rs1801688Benignsingle nucleotide variantPrimary ciliary dyskinesia
- rs41305223Benignsingle nucleotide variantPrimary ciliary dyskinesia
- rs41312104Benignsingle nucleotide variantPrimary ciliary dyskinesia
- rs5917557Benignsingle nucleotide variantPrimary ciliary dyskinesia
- rs5918522Benignsingle nucleotide variantPrimary ciliary dyskinesia
- rs62635003Benignsingle nucleotide variantPrimary ciliary dyskinesia
- rs62638643Conflicting interpretationssingle nucleotide variantRetinal dystrophy
- rs62635002Likely pathogenicsingle nucleotide variantRetinitis pigmentosa 3|Retinal dystrophy
- rs62638626Likely pathogenicsingle nucleotide variantRetinal dystrophy
- rs62640589Likely pathogenicsingle nucleotide variantRetinitis pigmentosa 3
- rs62640590Likely pathogenicsingle nucleotide variantPrimary ciliary dyskinesia
- rs137852549Pathogenicsingle nucleotide variantRetinitis pigmentosa 3
- rs137852550Pathogenicsingle nucleotide variantRetinitis pigmentosa, X-linked, and sinorespiratory infections, with deafness
- rs369037463Pathogenicsingle nucleotide variantRetinal dystrophy
- rs62635009Pathogenicsingle nucleotide variantX-linked cone-rod dystrophy 1
- rs62638632Pathogenicsingle nucleotide variant
- rs62638633Pathogenicsingle nucleotide variantRetinitis pigmentosa
- rs62638642PathogenicDeletionRetinal dystrophy
- rs62638648Pathogenicsingle nucleotide variantRetinal dystrophy
- rs62638652Pathogenicsingle nucleotide variant
- rs62640592Pathogenicsingle nucleotide variantRetinal dystrophy
- rs62640594Pathogenicsingle nucleotide variant
- rs62638649Uncertain significancesingle nucleotide variantPrimary ciliary dyskinesia
- rs62635004Not classifiedsingle nucleotide variant
- rs62635010Not classifiedsingle nucleotide variant
- rs62635013Not classifiedsingle nucleotide variant
- rs62635014Not classifiedDuplication
- rs62638628Not classifiedsingle nucleotide variant
- rs62638629Not classifiedsingle nucleotide variant
- rs62638635Not classifiedsingle nucleotide variant
- rs62638636Not classifiedsingle nucleotide variant
- rs62638639Not classifiedsingle nucleotide variant
- rs62638640Not classifiedsingle nucleotide variant
- rs62638641Not classifiedDeletion
- rs62638645Not classifiedsingle nucleotide variant
- rs62640584Not classifiedDeletion
- rs62640588Not classifiedDeletion
- rs62640591Not classifiedsingle nucleotide variant
- rs62642058Not classifiedsingle nucleotide variant
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.