Variants
MYO6 variants
The 2 MYO6 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 |
|---|---|---|---|---|
| Q918Tfs*24 | c.2751dup | 75,890,140 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R80X | c.238C>T | 75,828,590 | Pathogenic | 3 stars out of 4 reviewed by expert panel |