Variants
ENG variants
The 46 ENG 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 |
|---|---|---|---|---|---|
| c.2T>G | Exon 1 | 127,854,354 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| C382Y | c.1145G>A | Exon 9 | 127,820,027 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C549G | c.1645T>G | Exon 12 | 127,818,161 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G331S | c.991G>A | Exon 7 | 127,824,800 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G603R | c.1807G>A | Exon 14 | 127,815,988 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L221P | c.662T>C | Exon 5 | 127,825,722 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L506H | c.1517T>A | Exon 12 | 127,818,289 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| N423S | c.1268A>G | Exon 9 | 127,819,904 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R529H | c.1586G>A | Exon 12 | 127,818,220 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| V440G | c.1319T>G | Exon 11 | 127,818,825 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| V568Sfs*5 | c.1701del | Exon 13 | 127,817,188 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| W149C | c.447G>C | Exon 4 | 127,826,586 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A175S | c.523G>T | Exon 4 | 127,826,510 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A308D | c.923C>A | Exon 7 | 127,824,868 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A312Hfs*47 | c.934del | Exon 7 | 127,824,856 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.-127C>T | Exon 1 | 127,854,482 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1A>G | Exon 1 | 127,854,355 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.219G>A | Exon 2 | 127,843,094 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.360+1G>A | Intron 3 | 127,829,686 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.360+5G>A | Intron 3 | 127,829,682 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1134G>A | Exon 8 | 127,824,304 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1273-2A>G | Intron 9 | 127,819,662 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1311+2T>C | Intron 10 | 127,819,620 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1311G>A | Exon 10 | 127,819,622 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1428+1G>A | Intron 11 | 127,818,715 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1429-1G>A | Intron 11 | 127,818,378 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| C53X | c.159C>A | Exon 2 | 127,843,154 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D491Afs*26 | c.1472_1475del | Exon 12 | 127,818,330 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D491Rfs*10 | c.1470dup | Exon 12 | 127,818,335 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G214Tfs*7 | c.640_643del | Exon 5 | 127,825,740 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q188X | c.562C>T | Exon 5 | 127,825,822 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q270X | c.808C>T | Exon 6 | 127,825,239 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q436X | c.1306C>T | Exon 10 | 127,819,627 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q471X | c.1411C>T | Exon 11 | 127,818,733 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q489X | c.1465C>T | Exon 12 | 127,818,341 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R93X | c.277C>T | Exon 3 | 127,829,770 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R171X | c.511C>T | Exon 4 | 127,826,522 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R399Gfs*22 | c.1195del | Exon 9 | 127,819,976 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R437W | c.1309C>T | Exon 10 | 127,819,624 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R478Sfs*22 | c.1434_1435del | Exon 12 | 127,818,370 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S241Rfs*91 | c.721_725del | Exon 6 | 127,825,321 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S328X | c.983_984delinsAG | Exon 7 | 127,824,807 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| T361Sfs*7 | c.1080_1083del | Exon 8 | 127,824,354 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| T544Pfs*8 | c.1626del | Exon 12 | 127,818,179 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| W196R | c.586T>C | Exon 5 | 127,825,798 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Y258X | c.774C>A | Exon 6 | 127,825,273 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |