Variants
MYO7A variants
The 19 MYO7A variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
Exon 28Showing 1 of 19Show every exon
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| N1182K | c.3546C>A | Exon 28 | 77,189,386 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |