Variants
GP9 variants
The 16 GP9 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 |
|---|---|---|---|---|---|
| A159Rfs*77 | c.437_474dup | Exon 3 | 129,062,172 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C24R | c.70T>C | Exon 3 | 129,061,809 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C38R | c.112T>C | Exon 3 | 129,061,851 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C89Y | c.266G>A | Exon 3 | 129,062,005 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C135Y | c.404G>A | Exon 3 | 129,062,143 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D102_P105delinsA | c.305_313del | Exon 3 | 129,062,043 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| F71C | c.212T>G | Exon 3 | 129,061,951 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| F71S | c.212T>C | Exon 3 | 129,061,951 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G40Afs*43 | c.119del | Exon 3 | 129,061,854 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L7P | c.20T>C | Exon 3 | 129,061,759 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L56P | c.167T>C | Exon 3 | 129,061,906 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| N61S | c.182A>G | Exon 3 | 129,061,921 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| V148Gfs*67 | c.442dup | Exon 3 | 129,062,176 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| W150X | c.450G>A | Exon 3 | 129,062,189 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y95C | c.284A>G | Exon 3 | 129,062,023 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y95X | c.285T>G | Exon 3 | 129,062,024 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |