Variants
GAA variants
The 486 GAA 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 |
|---|---|---|---|---|---|
| A14Rfs*18 | c.40_47del | Exon 2 | 80,104,622 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A150Gfs*27 | c.448dup | Exon 2 | 80,105,032 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A382Lfs*10 | c.1143del | Exon 7 | 80,108,554 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A486P | c.1456G>C | Exon 10 | 80,110,745 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A610Dfs*88 | c.1824_1828dup | Exon 13 | 80,112,644 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A691Sfs*7 | c.2066_2070dup | Exon 15 | 80,113,240 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A761Ifs*35 | c.2281delinsAT | Exon 16 | 80,117,059 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.-32-1G>C | Intron 1 | 80,104,554 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.-32-2A>G | Intron 1 | 80,104,553 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.-32-3C>A | Intron 1 | 80,104,552 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.-32-13T>GIVS1-13T>G | Intron 1 | 80,104,542 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1A>G | Exon 2 | 80,104,587 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1A>T | Exon 2 | 80,104,587 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2T>C | Exon 2 | 80,104,588 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.378G>A | Exon 2 | 80,104,964 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.546+1G>T | Intron 2 | 80,105,133 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.546G>A | Exon 2 | 80,105,132 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.546G>C | Exon 2 | 80,105,132 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.546G>T | Exon 2 | 80,105,132 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.692+1G>A | Intron 3 | 80,105,895 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.692+1G>C | Intron 3 | 80,105,895 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.692+5G>T | Intron 3 | 80,105,899 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.955+1G>A | Intron 5 | 80,107,897 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1076-1G>C | Intron 6 | 80,108,488 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1076-22T>G | Intron 6 | 80,108,467 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1194+5G>A | Intron 7 | 80,108,612 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1326+1G>A | Intron 8 | 80,108,829 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1327-2A>G | Intron 8 | 80,109,943 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1437+1G>A | Intron 9 | 80,110,056 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1437+2T>C | Intron 9 | 80,110,057 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1438-1G>C | Intron 9 | 80,110,726 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1438-2A>C | Intron 9 | 80,110,725 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1438-2A>G | Intron 9 | 80,110,725 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1497G>A | Exon 10 | 80,110,786 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1551+1_1551+4del | Exon 10 | 80,110,840 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1551+1G>A | Intron 10 | 80,110,841 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1551+1G>C | Intron 10 | 80,110,841 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1551+1G>T | Intron 10 | 80,110,841 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1552-2A>C | Intron 10 | 80,110,939 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1552-2A>G | Intron 10 | 80,110,939 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1552-3C>G | Intron 10 | 80,110,938 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1645G>C | Exon 12 | 80,111,991 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1754+1G>A | Intron 12 | 80,112,101 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1754+2T>A | Intron 12 | 80,112,102 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1754+2T>C | Intron 12 | 80,112,102 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1754+2T>G | Intron 12 | 80,112,102 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1826dup | Exon 13 | 80,112,648 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1827C>G | Exon 13 | 80,112,650 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2040+1G>C | Intron 14 | 80,113,028 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2040+1G>T | Intron 14 | 80,113,028 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2040G>A | Exon 14 | 80,113,027 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2189+3G>C | Intron 15 | 80,113,369 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2189+459_*546del | Intron 15 | 80,113,824 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2214G>A | Exon 16 | 80,116,992 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2238G>A | Exon 16 | 80,117,016 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2238G>T | Exon 16 | 80,117,016 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2331+2T>A | Intron 16 | 80,117,111 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2332-2A>G | Intron 16 | 80,117,598 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2481+102_2646+31del | Intron 17 | 80,117,850 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2646+2T>A | Intron 18 | 80,118,359 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2646+2T>G | Intron 18 | 80,118,359 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2647-20T>G | Intron 18 | 80,118,633 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2799+4A>G | Intron 19 | 80,118,809 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| C82X | c.246C>A | Exon 2 | 80,104,832 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C92X | c.276C>A | Exon 2 | 80,104,862 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C103G | c.307T>G | Exon 2 | 80,104,893 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C127Lfs*18 | c.379_380del | Exon 2 | 80,104,963 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C647W | c.1941C>G | Exon 14 | 80,112,928 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C647X | c.1941C>A | Exon 14 | 80,112,928 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D404G | c.1211A>G | Exon 8 | 80,108,713 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D404N | c.1210G>A | Exon 8 | 80,108,712 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D406N | c.1216G>A | Exon 8 | 80,108,718 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D489N | c.1465G>A | Exon 10 | 80,110,754 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D513G | c.1538A>G | Exon 10 | 80,110,827 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D513N | c.1537G>A | Exon 10 | 80,110,826 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D616Efs*20 | c.1847dup | Exon 13 | 80,112,669 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D645E | c.1935C>A | Exon 14 | 80,112,922 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D645N | c.1933G>A | Exon 14 | 80,112,920 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D645Y | c.1933G>T | Exon 14 | 80,112,920 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E176Rfs*45 | c.525del | Exon 2 | 80,105,110 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E215X | c.643G>T | Exon 3 | 80,105,845 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E262K | c.784G>A | Exon 4 | 80,107,648 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E471Pfs*5 | c.1411_1414del | Exon 9 | 80,110,028 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E521K | c.1561G>A | Exon 11 | 80,110,950 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E521V | c.1562A>T | Exon 11 | 80,110,951 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E579K | c.1735G>A | Exon 12 | 80,112,081 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E656del | c.1962_1964del | Exon 14 | 80,112,948 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E721Gfs*16 | c.2161dup | Exon 15 | 80,113,333 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E721Rfs*43 | c.2161del | Exon 15 | 80,113,333 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E721X | c.2161G>T | Exon 15 | 80,113,338 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E730X | c.2188G>T | Exon 15 | 80,113,365 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E748Gfs*48 | c.2242dup | Exon 16 | 80,117,014 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E748Rfs*16 | c.2242del | Exon 16 | 80,117,014 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E748X | c.2242G>T | Exon 16 | 80,117,020 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E795Dfs*11 | c.2385del | Exon 17 | 80,117,652 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E795X | c.2383G>T | Exon 17 | 80,117,651 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E888X | c.2662G>T | Exon 19 | 80,118,668 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F241Cfs*88 | c.722_723del | Exon 4 | 80,107,584 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F414Sfs*26 | c.1241del | Exon 8 | 80,108,741 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F467S | c.1400T>C | Exon 9 | 80,110,018 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |