Variants
MYL2 variants
The 5 MYL2 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 |
|---|---|---|---|---|---|
| G162E | c.485G>A | Exon 7 | 110,911,093 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.403-1G>C | Intron 6 | 110,911,176 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| E22K | c.64G>A | Exon 2 | 110,919,133 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F18L | c.52T>C | Exon 2 | 110,919,145 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R58Q | c.173G>A | Exon 4 | 110,914,287 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |