Variants
RBM20 variants
The 7 RBM20 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. | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|
| E913K | c.2737G>A | 110,821,356 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| M905K | c.2714T>A | 110,821,333 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P638L | c.1913C>T | 110,812,310 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R634Q | c.1901G>A | 110,812,298 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R636H | c.1907G>A | 110,812,304 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R636L | c.1907G>T | 110,812,304 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R726X | c.2176C>T | 110,812,573 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |