Variants
RPGR variants
The 184 RPGR variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| A308P | c.922G>C | Exon 8 | 38,304,647 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A365Cfs*12 | c.1092dup | Exon 10 | 38,299,108 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A781Rfs*34 | c.2340del | Exon 15 | 38,286,658 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.28+1G>A | Intron 1 | 38,327,339 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.28+1G>C | Intron 1 | 38,327,339 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.28+2T>C | Intron 1 | 38,327,338 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.28+2T>G | Intron 1 | 38,327,338 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.29-2A>G | Intron 1 | 38,323,526 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.154+1G>A | Intron 2 | 38,323,398 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.154+3_154+6del | Intron 2 | 38,323,392 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.155-1G>A | Intron 2 | 38,322,946 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.155-2A>G | Intron 2 | 38,322,947 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.247+1G>A | Intron 3 | 38,322,852 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.247+5G>A | Intron 3 | 38,322,848 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.310+1G>A | Intron 4 | 38,321,026 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.310+1G>C | Intron 4 | 38,321,026 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.310+3A>G | Intron 4 | 38,321,024 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.469+1G>A | Intron 5 | 38,318,828 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.469+1G>T | Intron 5 | 38,318,828 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.470-1G>A | Intron 5 | 38,317,466 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.619+1G>C | Intron 6 | 38,317,315 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.619+2T>A | Intron 6 | 38,317,314 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.619+5G>A | Intron 6 | 38,317,311 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.778+1G>C | Intron 7 | 38,310,614 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.778+5G>A | Intron 7 | 38,310,610 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.779-1G>A | Intron 7 | 38,304,791 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.779-5T>G | Intron 7 | 38,304,795 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.934+1G>A | Intron 8 | 38,304,634 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.934+1G>C | Intron 8 | 38,304,634 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.934+1G>T | Intron 8 | 38,304,634 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.935-1G>T | Intron 8 | 38,301,372 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.935-2A>G | Intron 8 | 38,301,373 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1059+1G>A | Intron 9 | 38,301,246 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1059+1G>T | Intron 9 | 38,301,246 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1245+3A>G | Intron 10 | 38,298,953 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1245+3A>T | Intron 10 | 38,298,953 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1415-9A>G | Intron 11 | 38,291,493 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1506+1G>T | Intron 12 | 38,291,392 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1572+1del | Intron 13 | 38,290,957 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1572+1G>A | Intron 13 | 38,290,958 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1572+1G>T | Intron 13 | 38,290,958 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1572+3A>T | Intron 13 | 38,290,956 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1573-1G>A | Intron 13 | 38,288,042 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1573-8A>G | Intron 13 | 38,288,049 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1573-12A>G | Intron 13 | 38,288,053 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1754-3C>G | Intron 14 | 38,287,248 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| C359X | c.1077T>A | Exon 10 | 38,299,124 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D10Ifs*58 | c.27del | Exon 1 | 38,327,340 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D312H | c.934G>C | Exon 8 | 38,304,635 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E24Kfs*44 | c.69del | Exon 2 | 38,323,483 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E125X | c.373G>T | Exon 5 | 38,318,925 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E210X | c.628G>T | Exon 7 | 38,310,765 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E374X | c.1120G>T | Exon 10 | 38,299,081 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E546X | c.1636G>T | Exon 14 | 38,287,978 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E583X | c.1747G>T | Exon 14 | 38,287,867 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E585K | c.1753G>A | Exon 14 | 38,287,861 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E624Dfs*5 | c.1872_1873del | Exon 15 | 38,287,125 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E701X | c.2101G>T | Exon 15 | 38,286,898 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E726X | c.2176G>T | Exon 15 | 38,286,823 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E740X | c.2218G>T | Exon 15 | 38,286,781 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E746Rfs*23 | c.2236_2237del | Exon 15 | 38,286,761 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E750X | c.2248G>T | Exon 15 | 38,286,751 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E754X | c.2260G>T | Exon 15 | 38,286,739 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E757Gfs*12 | c.2270_2271del | Exon 15 | 38,286,727 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E758Kfs*57 | c.2272del | Exon 15 | 38,286,726 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E765Rfs*3 | c.2293_2297del | Exon 15 | 38,286,701 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E771Rfs*44 | c.2311del | Exon 15 | 38,286,687 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E802Gfs*12 | c.2403_2406del | Exon 15 | 38,286,592 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E802Gfs*32 | c.2405_2406del | Exon 15 | 38,286,592 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E807Gfs*3 | c.2420_2435del | Exon 15 | 38,286,563 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E809Gfs*25 | c.2426_2427del | Exon 15 | 38,286,571 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E820Rfs*268 | c.2457_2460del | Exon 15 | 38,286,538 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E831X | c.2491G>T | Exon 15 | 38,286,508 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E836Kfs*253 | c.2506del | Exon 15 | 38,286,492 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E836Rfs*242 | c.2505_2506del | Exon 15 | 38,286,492 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E836X | c.2506G>T | Exon 15 | 38,286,493 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E839Gfs*238 | c.2516_2520del | Exon 15 | 38,286,478 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E841Gfs*237 | c.2517_2518del | Exon 15 | 38,286,480 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E848Gfs*241 | c.2543del | Exon 15 | 38,286,455 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E884X | c.2650G>T | Exon 15 | 38,286,349 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E886Gfs*192 | c.2655_2656del | Exon 15 | 38,286,342 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E894Gfs*184 | c.2679_2680del | Exon 15 | 38,286,318 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E899X | c.2695G>T | Exon 15 | 38,286,304 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E901Kfs*188 | c.2701del | Exon 15 | 38,286,297 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E905Gfs*173 | c.2714_2715del | Exon 15 | 38,286,283 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E906X | c.2716G>T | Exon 15 | 38,286,283 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E907X | c.2719G>T | Exon 15 | 38,286,280 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E911Gfs*167 | c.2730_2731del | Exon 15 | 38,286,267 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E922Rfs*167 | c.2764del | Exon 15 | 38,286,234 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E931Gfs*147 | c.2790_2791del | Exon 15 | 38,286,207 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E931Gfs*158 | c.2792del | Exon 15 | 38,286,206 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E934X | c.2800G>T | Exon 15 | 38,286,199 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E947Gfs*142 | c.2840del | Exon 15 | 38,286,158 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E947Kfs*149 | c.2819_2838dup | Exon 15 | 38,286,160 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E949_E950delinsDX | c.2847_2848inv | Exon 15 | 38,286,151 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E967Gfs*112 | c.2899dup | Exon 15 | 38,286,099 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E975Gfs*117 | c.2923_2924insGAAAGGGG | Exon 15 | 38,286,075 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E978Gfs*99 | c.2933_2937del | Exon 15 | 38,286,061 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E982Kfs*107 | c.2944del | Exon 15 | 38,286,054 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E989Gfs*89 | c.2964_2965del | Exon 15 | 38,286,033 | Pathogenic | 3 stars out of 4 reviewed by expert panel |