Variants
RUNX1 variants
The 219 RUNX1 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 |
|---|---|---|---|---|---|
| A63Gfs*76 | c.184_187dup | Exon 4 | 34,887,006 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A65Rfs*73 | c.191_192insA | Exon 4 | 34,887,002 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A65Vfs*82 | c.166_193dup | Exon 4 | 34,887,000 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A83Gfs*55 | c.247dup | Exon 4 | 34,886,946 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A120Gfs*18 | c.356dup | Exon 5 | 34,880,708 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A134P | c.400G>C | Exon 5 | 34,880,665 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A134Qfs*2 | c.400_404del | Exon 5 | 34,880,660 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A134T | c.400G>A | Exon 5 | 34,880,665 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A134V | c.401C>T | Exon 5 | 34,880,664 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A142Gfs*2 | c.424dup | Exon 5 | 34,880,640 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A142Lfs*3 | c.424del | Exon 5 | 34,880,640 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A142Nfs*3 | c.423_424insAACC | Exon 5 | 34,880,641 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A142Tfs*3 | c.422_423insAACC | Exon 5 | 34,880,642 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A142Yfs*14 | c.422_423insATACCTTCGGACAAGGGGAATCGGAATAAAAG | Exon 5 | 34,880,642 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A156E | c.467C>A | Exon 5 | 34,880,598 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A244Pfs*19 | c.723_729dup | Exon 7 | 34,834,485 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A329X | c.979_983dup | Exon 9 | 34,792,594 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A411Vfs*190 | c.1228_1231dup | Exon 9 | 34,792,346 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A455Pfs*139 | c.1363del | Exon 9 | 34,792,214 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.98-2A>G | Intron 3 | 34,887,098 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.316T>C | Exon 4 | 34,886,878 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.318G>A | Exon 4 | 34,886,876 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.330G>T | Exon 4 | 34,886,864 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.351+1G>A | Intron 4 | 34,886,842 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.351+1G>C | Intron 4 | 34,886,842 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.351+1G>T | Intron 4 | 34,886,842 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.351+2_351+3insGT | Intron 4 | 34,886,840 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.351+2T>A | Intron 4 | 34,886,841 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.351+2T>C | Intron 4 | 34,886,841 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.352-1G>A | Intron 4 | 34,880,714 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.352-1G>T | Intron 4 | 34,880,714 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.508_508+1insAAGAG | Intron 5 | 34,880,556 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.508_508+10del | Intron 5 | 34,880,546 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.508+1G>A | Intron 5 | 34,880,556 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.508+1G>C | Intron 5 | 34,880,556 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.508+1G>T | Intron 5 | 34,880,556 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.508+2T>C | Intron 5 | 34,880,555 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.508+3del | Intron 5 | 34,880,553 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.697del | Exon 7 | 34,834,517 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.805+1G>T | Intron 7 | 34,834,409 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.806-1G>A | Intron 7 | 34,799,463 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.861C>G | Exon 8 | 34,799,407 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.965C>G | Exon 8 | 34,799,303 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.967_967+1insATCAA | Intron 8 | 34,799,300 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.967+2_967+5del | Intron 8 | 34,799,295 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.968-10C>A | Intron 8 | 34,792,620 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1221C>A | Exon 9 | 34,792,357 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| C432Wfs*168 | c.1295dup | Exon 9 | 34,792,282 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D75Tfs*47 | c.222del | Exon 4 | 34,886,971 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D93Gfs*45 | c.277dup | Exon 4 | 34,886,916 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D123Gfs*15 | c.367dup | Exon 5 | 34,880,697 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D198A | c.593A>C | Exon 6 | 34,859,494 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D198G | c.593A>G | Exon 6 | 34,859,494 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D198N | c.592G>A | Exon 6 | 34,859,495 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D198V | c.593A>T | Exon 6 | 34,859,494 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D198Y | c.592G>T | Exon 6 | 34,859,495 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D282Nfs*25 | c.844_856del | Exon 8 | 34,799,411 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E80Dfs*57 | c.240_241del | Exon 4 | 34,886,952 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E88Afs*35 | c.259_260dup | Exon 4 | 34,886,933 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E138X | c.411dup | Exon 5 | 34,880,653 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E227X | c.679G>T | Exon 7 | 34,834,536 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E422Gfs*180 | c.1256_1262dup | Exon 9 | 34,792,315 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E422Sfs*199 | c.1263_1264insTCCCTCCTACCACCTGTACTACGGCGCCTCGGCCGGCTCCTACCAGTTCTCCATGGTGGGCGGC | Exon 9 | 34,792,314 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E473X | c.1417G>T | Exon 9 | 34,792,161 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| F97Lfs*41 | c.289_299delinsCTCCTTCCGCTG | Exon 4 | 34,886,895 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G87Afs*35 | c.260del | Exon 4 | 34,886,933 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G168E | c.503G>A | Exon 5 | 34,880,562 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G168Efs*8 | c.503del | Exon 5 | 34,880,561 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G168R | c.502G>A | Exon 5 | 34,880,563 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G168X | c.502G>T | Exon 5 | 34,880,563 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G170E | c.509G>A | Exon 6 | 34,859,578 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G170R | c.508G>C | Exon 5 | 34,880,557 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G199E | c.596G>A | Exon 6 | 34,859,491 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G305Wfs*295 | c.911dup | Exon 8 | 34,799,356 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G363Afs*227 | c.1088_1100del | Exon 9 | 34,792,477 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G363Afs*229 | c.1088_1094del | Exon 9 | 34,792,483 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| H85Rfs*54 | c.253_254insGGGG | Exon 4 | 34,886,940 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| H105P | c.314A>C | Exon 4 | 34,886,880 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| H105Q | c.315C>A | Exon 4 | 34,886,879 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| H255Lfs*5 | c.764_765del | Exon 7 | 34,834,449 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| H404Lfs*197 | c.1207_1210dup | Exon 9 | 34,792,367 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| H404Tfs*190 | c.1210del | Exon 9 | 34,792,367 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| I114Sfs*8 | c.339del | Exon 4 | 34,886,854 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| I177Sfs*34 | c.528del | Exon 6 | 34,859,558 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K110E | c.328A>G | Exon 4 | 34,886,866 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K110N | c.330G>C | Exon 4 | 34,886,864 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K110Q | c.328A>C | Exon 4 | 34,886,866 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K110R | c.329A>G | Exon 4 | 34,886,865 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K117X | c.349A>T | Exon 4 | 34,886,845 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K194E | c.580A>G | Exon 6 | 34,859,507 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K194I | c.581A>T | Exon 6 | 34,859,506 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K194N | c.582A>C | Exon 6 | 34,859,505 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K194T | c.581A>C | Exon 6 | 34,859,506 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L47Qfs*87 | c.140_150del | Exon 4 | 34,887,043 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L56Pfs*6 | c.166_196del | Exon 4 | 34,886,997 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L56Vfs*82 | c.165dup | Exon 4 | 34,887,028 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L58Pfs*62 | c.171_223del | Exon 4 | 34,886,970 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L98Sfs*24 | c.292del | Exon 4 | 34,886,901 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L112Cfs*10 | c.334del | Exon 4 | 34,886,859 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L112Pfs*40 | c.292_334dup | Exon 4 | 34,886,859 | Pathogenic | 3 stars out of 4 reviewed by expert panel |