Variants
CAPN3 variants
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.
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| A702V | c.2105C>T | Exon 19 | 42,409,985 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A798E | c.2393C>A | Exon 23 | 42,411,299 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.499-1G>A | Intron 3 | 42,387,752 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1115+5G>C | Intron 8 | 42,394,346 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1194-2A>G | Intron 9 | 42,399,490 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1194-2del | Intron 9 | 42,399,489 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1194-9A>G | Intron 9 | 42,399,483 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1524G>A | Exon 11 | 42,401,810 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1746-20C>G | Intron 13 | 42,403,721 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1782G>A | Exon 14 | 42,403,777 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1993-1G>A | Intron 17 | 42,409,786 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| D295Lfs*57 | c.883_886delinsCTT | Exon 6 | 42,390,034 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D419E | c.1257T>G | Exon 10 | 42,399,555 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D419G | c.1256A>G | Exon 10 | 42,399,554 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D707G | c.2120A>G | Exon 20 | 42,410,432 | 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 |
| E323X | c.967G>T | Exon 7 | 42,392,660 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E343X | c.1027G>T | Exon 7 | 42,392,720 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E396G | c.1187A>G | Exon 9 | 42,396,871 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E435K | c.1303G>A | Exon 10 | 42,399,601 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E467del | c.1401_1403del | Exon 11 | 42,401,680 | 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 |
| E716D | c.2148G>T | Exon 20 | 42,410,460 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F200_L204del | c.598_612del | Exon 4 | 42,387,850 | 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 |
| G234E | c.701G>A | Exon 5 | 42,388,996 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G234R | c.700G>A | Exon 5 | 42,388,995 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G367S | c.1099G>A | Exon 8 | 42,394,325 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G441D | c.1322G>A | Exon 10 | 42,399,620 | Likely 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 |
| G445R | c.1333G>A | Exon 10 | 42,399,631 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G446S | c.1336G>A | Exon 10 | 42,399,634 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| I121M | c.363C>G | Exon 2 | 42,384,536 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| I502T | c.1505T>C | Exon 11 | 42,401,791 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| I661X | c.1981del | Exon 17 | 42,409,368 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K207T | c.620A>C | Exon 4 | 42,387,874 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K211N | c.633G>C | Exon 5 | 42,388,928 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K254del | c.759_761del | Exon 5 | 42,389,050 | 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 |
| L712F | c.2134C>T | Exon 20 | 42,410,446 | Likely 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 |
| P359L | c.1076C>T | Exon 8 | 42,394,302 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q619X | c.1855C>T | Exon 16 | 42,408,265 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q728X | c.2182C>T | Exon 20 | 42,410,494 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R49C | c.145C>T | Exon 1 | 42,359,950 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R49H | c.146G>A | Exon 1 | 42,359,951 | 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 |
| R110X | c.328C>T | Exon 2 | 42,384,501 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R289W | c.865C>T | Exon 6 | 42,390,016 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R440Q | c.1319G>A | Exon 10 | 42,399,617 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R448C | c.1342C>T | Exon 10 | 42,399,640 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R448H | c.1343G>A | Exon 10 | 42,399,641 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R448L | c.1343G>T | Exon 10 | 42,399,641 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R489Q | c.1466G>A | Exon 11 | 42,401,752 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R489W | c.1465C>T | Exon 11 | 42,401,751 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R490Q | c.1469G>A | Exon 11 | 42,401,755 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R490W | c.1468C>T | Exon 11 | 42,401,754 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R541Q | c.1622G>A | Exon 13 | 42,402,879 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R541W | c.1621C>T | Exon 13 | 42,402,878 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R572Q | c.1715G>A | Exon 13 | 42,402,972 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R572W | c.1714C>T | Exon 13 | 42,402,971 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R748Q | c.2243G>A | Exon 21 | 42,410,646 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R748X | c.2242C>T | Exon 21 | 42,410,645 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R769P | c.2306G>C | Exon 22 | 42,410,926 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R769Q | c.2306G>A | Exon 22 | 42,410,926 | 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 |
| S215_G221del | c.643_663del | Exon 5 | 42,388,934 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S246X | c.734dup | Exon 5 | 42,389,027 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S443P | c.1327T>C | Exon 10 | 42,399,625 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| S479G | c.1435A>G | Exon 11 | 42,401,721 | 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 |
| T417M | c.1250C>T | Exon 10 | 42,399,548 | 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 |
| Y537X | c.1611C>A | Exon 13 | 42,402,868 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y763C | c.2288A>G | Exon 22 | 42,410,908 | Pathogenic | 3 stars out of 4 reviewed by expert panel |