Variants
ENG variants
Predicted effect: Splice site or region. 9 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.
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
| Variant | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|
| 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 |