Variants
RB1 variants
The 4 RB1 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 |
|---|---|---|---|---|---|
| c.1215+1G>A | Intron 12 | 48,373,493 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1695+30911_1695+30912insCATG | Intron 17 | 48,412,354 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| R320X | c.958C>T | Exon 10 | 48,367,512 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R787X | c.2359C>T | Exon 23 | 48,465,238 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |