Variants
RPE65 variants
The 190 RPE65 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 |
|---|---|---|---|---|---|
| A145D | c.434C>A | Exon 5 | 68,444,592 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A145P | c.433G>C | Exon 5 | 68,444,593 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A179V | c.536C>T | Exon 6 | 68,440,960 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A214Sfs*20 | c.639dup | Exon 6 | 68,440,856 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A360P | c.1078G>C | Exon 10 | 68,438,237 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A415V | c.1244C>T | Exon 12 | 68,431,376 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A434E | c.1301C>A | Exon 12 | 68,431,319 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.2T>C | Exon 1 | 68,449,904 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.11+5G>A | Intron 1 | 68,449,890 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.95-2A>T | Intron 2 | 68,446,862 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.246-11A>G | Intron 3 | 68,444,894 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.354-2A>G | Intron 4 | 68,444,674 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.495+1_495+2insG | Intron 5 | 68,444,529 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.496-1G>A | Intron 5 | 68,441,001 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.675C>A | Exon 7 | 68,439,611 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.726-2A>C | Intron 7 | 68,439,325 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.726-2A>T | Intron 7 | 68,439,325 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.825C>A | Exon 8 | 68,439,224 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.912C>A | Exon 9 | 68,439,028 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.998+1G>A | Intron 9 | 68,438,941 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1101A>G | Exon 10 | 68,438,214 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1129-2A>G | Intron 10 | 68,431,587 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1243+1G>A | Intron 11 | 68,431,470 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1243+1G>C | Intron 11 | 68,431,470 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1243+2T>A | Intron 11 | 68,431,469 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1338+1G>A | Intron 12 | 68,431,281 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1451-1G>A | Intron 13 | 68,429,928 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| C330Y | c.989G>A | Exon 9 | 68,438,951 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D110G | c.329A>G | Exon 4 | 68,444,800 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D167Y | c.499G>T | Exon 6 | 68,440,997 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D218Ifs*3 | c.651del | Exon 7 | 68,439,634 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D482G | c.1445A>G | Exon 13 | 68,431,070 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D482N | c.1444G>A | Exon 13 | 68,431,071 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E6X | c.16G>T | Exon 2 | 68,448,702 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E102X | c.304G>T | Exon 4 | 68,444,825 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E148D | c.444G>T | Exon 5 | 68,444,582 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E148Dfs*8 | c.444_445del | Exon 5 | 68,444,580 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E254D | c.762G>T | Exon 8 | 68,439,287 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E404Afs*4 | c.1207_1210dup | Exon 11 | 68,431,503 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E404Lfs*4 | c.1209_1210insCTGG | Exon 11 | 68,431,504 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E417Q | c.1249G>C | Exon 12 | 68,431,371 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E481del | c.1443_1445del | Exon 13 | 68,431,069 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| F16S | c.47T>C | Exon 2 | 68,448,671 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| F72S | c.215T>C | Exon 3 | 68,446,740 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F252S | c.755T>C | Exon 8 | 68,439,294 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| F418Y | c.1253T>A | Exon 12 | 68,431,367 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| F530L | c.1590C>A | Exon 14 | 68,429,788 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| F530Lfs*40 | c.1590del | Exon 14 | 68,429,787 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G40D | c.119G>A | Exon 3 | 68,446,836 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G40S | c.118G>A | Exon 3 | 68,446,837 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G46E | c.137G>A | Exon 3 | 68,446,818 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G48E | c.143G>A | Exon 3 | 68,446,812 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G104D | c.311G>A | Exon 4 | 68,444,818 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G104R | c.310G>C | Exon 4 | 68,444,819 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G104V | c.311G>T | Exon 4 | 68,444,818 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G140E | c.419G>A | Exon 5 | 68,444,607 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G187E | c.560G>A | Exon 6 | 68,440,936 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G333R | c.997G>C | Exon 9 | 68,438,943 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G428Mfs*5 | c.1282_1303del | Exon 12 | 68,431,316 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G484D | c.1451G>A | Exon 14 | 68,429,927 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G484V | c.1451G>T | Exon 14 | 68,429,927 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G528V | c.1583G>T | Exon 14 | 68,429,795 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| H68Y | c.202C>T | Exon 3 | 68,446,753 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| H182R | c.545A>G | Exon 6 | 68,440,951 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| H182Y | c.544C>T | Exon 6 | 68,440,952 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| H313R | c.938A>G | Exon 9 | 68,439,002 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| H527P | c.1580A>C | Exon 14 | 68,429,798 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| H527R | c.1580A>G | Exon 14 | 68,429,798 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| H527Y | c.1579C>T | Exon 14 | 68,429,799 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I98Hfs*26 | c.292_311del | Exon 4 | 68,444,817 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I206Cfs*27 | c.615_616del | Exon 6 | 68,440,879 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I206T | c.617T>C | Exon 6 | 68,440,879 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K295X | c.883A>T | Exon 9 | 68,439,057 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K298Sfs*27 | c.893del | Exon 9 | 68,439,046 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K303X | c.907A>T | Exon 9 | 68,439,033 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K354Efs*11 | c.1059dup | Exon 10 | 68,438,255 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L22P | c.65T>C | Exon 2 | 68,448,653 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L36Sfs*58 | c.106del | Exon 3 | 68,446,848 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L42F | c.124C>T | Exon 3 | 68,446,831 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L67R | c.200T>G | Exon 3 | 68,446,755 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L328F | c.982C>T | Exon 9 | 68,438,958 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L341S | c.1022T>C | Exon 10 | 68,438,293 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L372X | c.1115del | Exon 10 | 68,438,199 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L383X | c.1148T>G | Exon 11 | 68,431,566 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L487Efs*25 | c.1459_1460del | Exon 14 | 68,429,917 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| M285Wfs*40 | c.852del | Exon 8 | 68,439,196 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| N131K | c.393T>A | Exon 5 | 68,444,633 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| N191D | c.571A>G | Exon 6 | 68,440,925 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| N199Kfs*35 | c.596dup | Exon 6 | 68,440,899 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| N260Qfs*18 | c.778_785del | Exon 8 | 68,439,263 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| N302Kfs*17 | c.906_907del | Exon 9 | 68,439,032 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| N321Kfs*15 | c.962dup | Exon 9 | 68,438,977 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| N356Kfs*9 | c.1067dup | Exon 10 | 68,438,247 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| N356Mfs*17 | c.1067del | Exon 10 | 68,438,247 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P25L | c.74C>T | Exon 2 | 68,448,644 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P47Qfs*47 | c.138del | Exon 3 | 68,446,816 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P111S | c.331C>T | Exon 4 | 68,444,798 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P111T | c.331C>A | Exon 4 | 68,444,798 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P363H | c.1088C>A | Exon 10 | 68,438,227 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P363R | c.1088C>G | Exon 10 | 68,438,227 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |