Variants
RS1 variants
The 108 RS1 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| A18T | c.52G>A | Exon 1 | 18,672,017 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.1A>T | Exon 1 | 18,672,068 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.52+1G>A | Intron 1 | 18,672,016 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.52+1G>C | Intron 1 | 18,672,016 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.52+1G>T | Intron 1 | 18,672,016 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.52+2T>A | Intron 1 | 18,672,015 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.52+2T>C | Intron 1 | 18,672,015 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.53-1G>A | Intron 1 | 18,657,666 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.53-713_78+266del | Intron 2 | 18,657,373 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.78+1G>A | Intron 2 | 18,657,639 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.78+5G>A | Intron 2 | 18,657,635 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.176G>C | Exon 3 | 18,656,661 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.216G>T | Exon 4 | 18,647,301 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.276G>T | Exon 4 | 18,647,241 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.326+1G>A | Intron 4 | 18,647,190 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.365G>A | Exon 5 | 18,644,587 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.488G>A | Exon 5 | 18,644,464 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.489del | Exon 5 | 18,644,462 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.667T>A | Exon 6 | 18,642,012 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| C59F | c.176G>T | Exon 3 | 18,656,661 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C59G | c.175T>G | Exon 3 | 18,656,662 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C59R | c.175T>C | Exon 3 | 18,656,662 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C59S | c.175T>A | Exon 3 | 18,656,662 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C59W | c.177T>G | Exon 3 | 18,656,660 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C59Y | c.176G>A | Exon 3 | 18,656,661 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C110X | c.330T>A | Exon 5 | 18,644,622 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C110Y | c.329G>A | Exon 5 | 18,644,623 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C219G | c.655T>G | Exon 6 | 18,642,024 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C219R | c.655T>C | Exon 6 | 18,642,024 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C219X | c.657C>A | Exon 6 | 18,642,022 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C219Y | c.656G>A | Exon 6 | 18,642,023 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C223F | c.668G>T | Exon 6 | 18,642,011 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C223G | c.667T>G | Exon 6 | 18,642,012 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C223R | c.667T>C | Exon 6 | 18,642,012 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C223S | c.668G>C | Exon 6 | 18,642,011 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C223W | c.669T>G | Exon 6 | 18,642,010 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C223Y | c.668G>A | Exon 6 | 18,642,011 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D118Efs*14 | c.354delinsGGTGTGCCTGGCTCTCCA | Exon 5 | 18,644,598 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D145H | c.433G>C | Exon 5 | 18,644,519 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E6X | c.16G>T | Exon 1 | 18,672,053 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E17X | c.49G>T | Exon 1 | 18,672,020 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E26X | c.76G>T | Exon 2 | 18,657,642 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E72A | c.215A>C | Exon 4 | 18,647,302 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E72D | c.216G>C | Exon 4 | 18,647,301 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E72G | c.215A>G | Exon 4 | 18,647,302 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E72K | c.214G>A | Exon 4 | 18,647,303 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E72Q | c.214G>C | Exon 4 | 18,647,303 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E72V | c.215A>T | Exon 4 | 18,647,302 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E215K | c.643G>A | Exon 6 | 18,642,036 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E215Q | c.643G>C | Exon 6 | 18,642,036 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E215V | c.644A>T | Exon 6 | 18,642,035 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F108C | c.323T>G | Exon 4 | 18,647,194 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G7Afs*119 | c.20del | Exon 1 | 18,672,048 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G21X | c.61G>T | Exon 2 | 18,657,657 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G45Rfs*41 | c.131dup | Exon 3 | 18,656,705 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G74_D79delinsVPX | c.221_237delinsTCCCCTGACCGGGTTAGAGT | Exon 4 | 18,647,280 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G171R | c.511G>A | Exon 5 | 18,644,441 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G178A | c.533G>C | Exon 6 | 18,642,146 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G178D | c.533G>A | Exon 6 | 18,642,146 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G178V | c.533G>T | Exon 6 | 18,642,146 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| I5Kfs*121 | c.14del | Exon 1 | 18,672,054 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| I194N | c.581T>A | Exon 6 | 18,642,098 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L9Cfs*117 | c.26del | Exon 1 | 18,672,042 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L11Ffs*114 | c.33_36del | Exon 1 | 18,672,032 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L69Rfs*16 | c.206_207del | Exon 4 | 18,647,309 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L113F | c.337C>T | Exon 5 | 18,644,615 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L216P | c.647T>C | Exon 6 | 18,642,032 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P192H | c.575C>A | Exon 6 | 18,642,104 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P192L | c.575C>T | Exon 6 | 18,642,104 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P192R | c.575C>G | Exon 6 | 18,642,104 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P192S | c.574C>T | Exon 6 | 18,642,105 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P192T | c.574C>A | Exon 6 | 18,642,105 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P193S | c.577C>T | Exon 6 | 18,642,102 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q35X | c.103C>T | Exon 3 | 18,656,734 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q117X | c.349C>T | Exon 5 | 18,644,603 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q187X | c.559C>T | Exon 6 | 18,642,120 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R102Q | c.305G>A | Exon 4 | 18,647,212 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R102W | c.304C>T | Exon 4 | 18,647,213 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R141C | c.421C>T | Exon 5 | 18,644,531 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R141G | c.421C>G | Exon 5 | 18,644,531 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R141H | c.422G>A | Exon 5 | 18,644,530 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R141L | c.422G>T | Exon 5 | 18,644,530 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R141P | c.422G>C | Exon 5 | 18,644,530 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R141S | c.421C>A | Exon 5 | 18,644,531 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R174Gfs*63 | c.520del | Exon 5 | 18,644,431 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R182C | c.544C>T | Exon 6 | 18,642,135 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R197C | c.589C>T | Exon 6 | 18,642,090 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R200C | c.598C>T | Exon 6 | 18,642,081 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R200H | c.599G>A | Exon 6 | 18,642,080 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R200L | c.599G>T | Exon 6 | 18,642,080 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R200P | c.599G>C | Exon 6 | 18,642,080 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R200S | c.598C>A | Exon 6 | 18,642,081 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R213Q | c.638G>A | Exon 6 | 18,642,041 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R213W | c.637C>T | Exon 6 | 18,642,042 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S23X | c.68C>A | Exon 2 | 18,657,650 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S73P | c.217T>C | Exon 4 | 18,647,300 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| V76D | c.227T>A | Exon 4 | 18,647,290 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| W33Gfs*93 | c.97del | Exon 3 | 18,656,739 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| W33Lfs*53 | c.96dup | Exon 3 | 18,656,740 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| W33X | c.98G>A | Exon 3 | 18,656,739 | Pathogenic | 3 stars out of 4 reviewed by expert panel |