Variants
CAPN3 variants
Predicted effect: Frameshift. 16 of the 80 CAPN3 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 |
|---|---|---|---|---|---|
| D295Lfs*57 | c.883_886delinsCTT | Exon 6 | 42,390,034 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D764Tfs*12 | c.2290del | Exon 22 | 42,410,909 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E582Gfs*3 | c.1743_1744del | Exon 13 | 42,402,999 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E622Gfs*9 | c.1865_1866del | Exon 16 | 42,408,272 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F239Lfs*14 | c.717del | Exon 5 | 42,389,006 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G441Vfs*22 | c.1322del | Exon 10 | 42,399,616 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K613Rfs*49 | c.1838del | Exon 16 | 42,408,246 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L74Ffs*53 | c.219del | Exon 1 | 42,360,022 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L87Sfs*4 | c.258dup | Exon 1 | 42,360,062 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L571Sfs*24 | c.1711del | Exon 13 | 42,402,966 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| N760Kfs*5 | c.2279dup | Exon 22 | 42,410,897 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R110Pfs*18 | c.327_328dup | Exon 2 | 42,384,497 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R788Sfs*13 | c.2362_2363delinsTCA | Exon 22 | 42,410,982 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R788Sfs*14 | c.2362_2363delinsTCATCT | Exon 22 | 42,410,982 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| T184Rfs*36 | c.550del | Exon 4 | 42,387,802 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y75Lfs*5 | c.223dup | Exon 1 | 42,360,025 | Pathogenic | 3 stars out of 4 reviewed by expert panel |