Variants
PCSK9 variants
The 6 PCSK9 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 |
|---|---|---|---|---|---|
| D129G | c.386A>G | Exon 2 | 55,044,021 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D374Y | c.1120G>T | Exon 7 | 55,057,454 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E32K | c.94G>A | Exon 1 | 55,039,931 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L108R | c.323T>G | Exon 2 | 55,043,958 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R215H | c.644G>A | Exon 4 | 55,052,398 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S127R | c.381T>A | Exon 2 | 55,044,016 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |