Variants
MYH11 variants
The 5 MYH11 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 |
|---|---|---|---|---|
| c.1033+1G>A | 15,771,568 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.4578+1G>A | 15,721,421 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.5787-4707del | 15,708,829 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| G357Qfs*14 | c.1069_1082del | 15,763,842 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R712Q | c.2135G>A | 15,748,092 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |