Variants
ENG variants
Predicted effect: Frameshift. 10 of 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.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| V568Sfs*5 | c.1701del | Exon 13 | 127,817,188 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A312Hfs*47 | c.934del | Exon 7 | 127,824,856 | 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 |
| R399Gfs*22 | c.1195del | Exon 9 | 127,819,976 | 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 |
| 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 |