Variants
ACADVL variants
The 167 ACADVL 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 |
|---|---|---|---|---|---|
| A141Gfs*9 | c.421dup | Exon 6 | 7,220,997 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A180T | c.538G>A | Exon 7 | 7,221,598 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A213P | c.637G>C | Exon 8 | 7,221,966 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A213T | c.637G>A | Exon 8 | 7,221,966 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A333Cfs*26 | c.996dup | Exon 10 | 7,222,782 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A333Vfs*26 | c.997_998insT | Exon 10 | 7,222,785 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A347Pfs*6 | c.1039del | Exon 10 | 7,222,825 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A416T | c.1246G>A | Exon 12 | 7,223,707 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A490P | c.1468G>C | Exon 15 | 7,224,179 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A544Pfs*3 | c.1630_1645del | Exon 17 | 7,224,503 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A577Gfs*11 | c.1730_1740del | Exon 18 | 7,224,690 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.63-2A>C | Intron 1 | 7,220,120 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.138+1G>A | Intron 2 | 7,220,198 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.277+1G>A | Intron 4 | 7,220,677 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.277+2T>G | Intron 4 | 7,220,678 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.278-1G>A | Intron 4 | 7,220,765 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.342+1G>A | Intron 5 | 7,220,831 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.342+1G>C | Intron 5 | 7,220,831 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.343-1del | Intron 5 | 7,220,922 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.343-1G>A | Intron 5 | 7,220,923 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.623-1del | Intron 7 | 7,221,950 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.623-1G>A | Intron 7 | 7,221,951 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.753-2A>C | Intron 8 | 7,222,175 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.753-2A>G | Intron 8 | 7,222,175 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.878+1G>C | Intron 9 | 7,222,303 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.879-8T>A | Intron 9 | 7,222,659 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1077_1077+1delinsCAC | Exon 10 | 7,222,865 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1077+1G>A | Intron 10 | 7,222,866 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1077+1G>T | Intron 10 | 7,222,866 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1077+2T>A | Intron 10 | 7,222,867 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1077+2T>C | Intron 10 | 7,222,867 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1182+1G>A | Intron 11 | 7,223,238 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1193_1194insGCA | Exon 12 | 7,223,653 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1269+1G>A | Intron 12 | 7,223,731 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1317dup | Exon 13 | 7,223,859 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1532+1G>A | Intron 15 | 7,224,244 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1532+2T>C | Intron 15 | 7,224,245 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1605+2T>A | Intron 16 | 7,224,395 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1605+2T>C | Intron 16 | 7,224,395 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1606-1_1606insGCAGTACGGGCTCTGGA | Intron 16 | 7,224,479 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1606-3_1606-2del | Intron 16 | 7,224,476 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1679-6G>A | Intron 17 | 7,224,636 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1752-4_1754del | Intron 18 | 7,224,804 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1827+1G>A | Intron 19 | 7,224,885 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| C215R | c.643T>C | Exon 8 | 7,221,972 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C215X | c.644_647del | Exon 8 | 7,221,969 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C237Wfs*15 | c.711_712del | Exon 8 | 7,222,037 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C603X | c.1806_1807del | Exon 19 | 7,224,860 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D50Wfs*12 | c.145_146dup | Exon 3 | 7,220,467 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D85Gfs*19 | c.253dup | Exon 4 | 7,220,651 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D257Afs*19 | c.770del | Exon 9 | 7,222,193 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E115X | c.343G>T | Exon 6 | 7,220,924 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E130del | c.388_390del | Exon 6 | 7,220,964 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E130Rfs*87 | c.388del | Exon 6 | 7,220,967 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E218K | c.652G>A | Exon 8 | 7,221,981 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E309Gfs*4 | c.926_927del | Exon 10 | 7,222,711 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E381del | c.1141_1143del | Exon 11 | 7,223,193 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E432X | c.1294G>T | Exon 13 | 7,223,837 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| F113Lfs*11 | c.335dup | Exon 5 | 7,220,820 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| F214Lfs*38 | c.642_643del | Exon 8 | 7,221,969 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F288Lfs*65 | c.864del | Exon 9 | 7,222,287 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| F311Sfs*42 | c.932del | Exon 10 | 7,222,718 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| F458L | c.1372T>C | Exon 14 | 7,224,007 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G43Vfs*18 | c.128del | Exon 2 | 7,220,182 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G140E | c.419G>A | Exon 6 | 7,221,000 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G143Afs*61 | c.428_467del | Exon 6 | 7,220,999 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G185S | c.553G>A | Exon 7 | 7,221,613 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G222R | c.664G>A | Exon 8 | 7,221,993 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G289R | c.865G>A | Exon 9 | 7,222,289 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G354Hfs*4 | c.1059_1060del | Exon 10 | 7,222,843 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G407A | c.1220G>C | Exon 12 | 7,223,681 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G438E | c.1313G>A | Exon 13 | 7,223,856 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G439Vfs*5 | c.1316del | Exon 13 | 7,223,853 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G441D | c.1322G>A | Exon 13 | 7,223,865 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G463E | c.1388G>A | Exon 14 | 7,224,023 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G503Efs*7 | c.1508del | Exon 15 | 7,224,217 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| H181Pfs*72 | c.541dup | Exon 7 | 7,221,598 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I166Sfs*5 | c.497_498del | Exon 7 | 7,221,556 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| I184Mfs*33 | c.552del | Exon 7 | 7,221,611 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I189Pfs*56 | c.565_587del | Exon 7 | 7,221,617 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| I228Rfs*35 | c.652_682dup | Exon 8 | 7,221,980 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| I291Hfs*7 | c.869dup | Exon 9 | 7,222,288 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| I336Rfs*16 | c.1007_1026del | Exon 10 | 7,222,794 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| I457Hfs*6 | c.1368dup | Exon 14 | 7,224,002 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K64Nfs*53 | c.192del | Exon 3 | 7,220,511 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K64X | c.190A>T | Exon 3 | 7,220,515 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K67X | c.199A>T | Exon 3 | 7,220,524 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K71X | c.210dup | Exon 4 | 7,220,608 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K103Rfs*20 | c.308_309del | Exon 5 | 7,220,794 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K264E | c.790A>G | Exon 9 | 7,222,214 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K278del | c.833_835del | Exon 9 | 7,222,253 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K299del | c.896_898del | Exon 10 | 7,222,677 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K299M | c.896A>T | Exon 10 | 7,222,684 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K382Q | c.1144A>C | Exon 11 | 7,223,199 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K382Sfs*11 | c.1145del | Exon 11 | 7,223,198 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K428Rfs*2 | c.1283del | Exon 13 | 7,223,824 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K482Afs*78 | c.1444_1448del | Exon 15 | 7,224,148 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L27Afs*27 | c.79_100del | Exon 2 | 7,220,135 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L172P | c.515T>C | Exon 7 | 7,221,575 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L202P | c.605T>C | Exon 7 | 7,221,665 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |