Variants
MYO15A variants
The 9 MYO15A 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 |
|---|---|---|---|---|
| A1548T | c.4642G>A | 18,136,462 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.9517+2T>C | 18,161,449 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| I2113F | c.6337A>T | 18,145,935 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q3349X | c.10045C>T | 18,167,686 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| V1400M | c.4198G>A | 18,131,523 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y332X | c.996C>G | 18,119,796 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y380Mfs*64 | c.1137del | 18,119,933 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y393Cfs*41 | c.1171_1177dup | 18,119,970 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y1392X | c.4176C>A | 18,131,501 | Pathogenic | 3 stars out of 4 reviewed by expert panel |