Variants
APC variants
The 721 APC 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 |
|---|---|---|---|---|---|
| c.220+1G>A | Intron 3 | 112,766,411 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.220+2T>A | Intron 3 | 112,766,412 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.423-8A>G | Intron 4 | 112,775,621 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.423-9A>G | Intron 4 | 112,775,620 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.423-11A>G | Intron 4 | 112,775,618 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.471G>A | Exon 5 | 112,775,677 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.531+1_531+4del | Exon 5 | 112,775,737 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.531+5G>AIVS5+5G>A | Intron 5 | 112,775,742 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.531+5G>C | Intron 5 | 112,775,742 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.531+6T>C | Intron 5 | 112,775,743 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.532-8G>A | Intron 5 | 112,780,782 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.645+1G>A | Intron 6 | 112,780,904 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.835-7T>G | Intron 8 | 112,815,488 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.835-8A>G | Intron 8 | 112,815,487 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1311_1312+1del | Exon 10 | 112,819,342 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1312+1_1312+16del | Exon 10 | 112,819,344 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1312+3A>C | Intron 10 | 112,819,347 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1312+3A>G | Intron 10 | 112,819,347 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1312+5G>A | Intron 10 | 112,819,349 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1312+5G>C | Intron 10 | 112,819,349 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1409-3T>G | Intron 11 | 112,827,105 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1409-5A>G | Intron 11 | 112,827,103 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1626+2T>G | Intron 13 | 112,828,008 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1626+3A>G | Intron 13 | 112,828,009 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1956C>T | Exon 15 | 112,835,163 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| D170Vfs*4 | c.509_512del | Exon 5 | 112,775,710 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D849Vfs*10 | c.2546_2552del | Exon 16 | 112,838,136 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E1309Dfs*4 | c.3927_3931del | Exon 16 | 112,839,514 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E2172Rfs*10 | c.6510del | Exon 16 | 112,842,103 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G53Efs*17 | c.156del | Exon 3 | 112,766,344 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| I1557X | c.4669_4670del | Exon 16 | 112,840,261 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K311N | c.933G>C | Exon 9 | 112,815,593 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K581N | c.1743G>C | Exon 14 | 112,828,972 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K1593Sfs*57 | c.4778del | Exon 16 | 112,840,366 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L68Yfs*2 | c.203del | Exon 3 | 112,766,390 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| N1026S | c.3077A>G | Exon 16 | 112,838,671 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q445X | c.1333C>T | Exon 11 | 112,821,916 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q542H | c.1626G>C | Exon 13 | 112,828,006 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q1680X | c.5038C>T | Exon 16 | 112,840,632 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q2600Vfs*15 | c.7798_7801del | Exon 16 | 112,843,387 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R232X | c.694C>T | Exon 7 | 112,792,494 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R283X | c.847C>T | Exon 9 | 112,815,507 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R414Afs*40 | c.1240del | Exon 10 | 112,819,271 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| S634Kfs*17 | c.1900dup | Exon 15 | 112,835,104 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S747X | c.2240C>G | Exon 16 | 112,837,834 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S1028I | c.3083G>T | Exon 16 | 112,838,677 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| S1028N | c.3083G>A | Exon 16 | 112,838,677 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| S1028R | c.3084T>A | Exon 16 | 112,838,678 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| S1465Wfs*3 | c.4393_4394del | Exon 16 | 112,839,978 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S2302X | c.6905C>G | Exon 16 | 112,842,499 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| S2497Ffs*14 | c.7489dup | Exon 16 | 112,843,081 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S2601Rfs*17 | c.7803_7807del | Exon 16 | 112,843,392 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A385Gfs*12 | c.1153dup | Exon 10 | 112,819,184 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A465Cfs*4 | c.1392dup | Exon 11 | 112,821,974 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A514X | c.1538_1539dup | Exon 12 | 112,827,236 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A545Gfs*15 | c.1633dup | Exon 14 | 112,828,861 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A885Sfs*27 | c.2652dup | Exon 16 | 112,838,245 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A896Gfs*18 | c.2680_2686dup | Exon 16 | 112,838,273 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A1050Efs*6 | c.3149del | Exon 16 | 112,838,742 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A1107Sfs*12 | c.3317dup | Exon 16 | 112,838,907 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A1299Lfs*6 | c.3894del | Exon 16 | 112,839,487 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A1402Cfs*7 | c.4203dup | Exon 16 | 112,839,795 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A1492Cfs*22 | c.4473dup | Exon 16 | 112,840,063 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A1492Pfs*15 | c.4474del | Exon 16 | 112,840,067 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A1945Efs*25 | c.5834del | Exon 16 | 112,841,427 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A2004Gfs*7 | c.6010dup | Exon 16 | 112,841,603 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A2128Lfs*11 | c.6381del | Exon 16 | 112,841,973 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A2128Vfs*11 | c.6383del | Exon 16 | 112,841,976 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.-40G>A | 112,707,678 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | ||
| c.-190G>A-190G-A | 112,707,528 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | ||
| c.-195A>C | 112,707,523 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | ||
| c.135+1G>T | Intron 2 | 112,755,026 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.135+2T>C | Intron 2 | 112,755,027 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.136-1G>A | Intron 2 | 112,766,325 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.219A>G | Exon 3 | 112,766,409 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.221-1G>A | Intron 3 | 112,767,188 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.221-1G>C | Intron 3 | 112,767,188 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.221-2A>G | Intron 3 | 112,767,187 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.266C>A | Exon 4 | 112,767,234 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.288T>G | Exon 4 | 112,767,256 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.422+1G>A | Intron 4 | 112,767,391 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.422+2T>C | Intron 4 | 112,767,392 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.422+2T>G | Intron 4 | 112,767,392 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.423-1G>A | Intron 4 | 112,775,628 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.423-1G>C | Intron 4 | 112,775,628 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.423-2A>C | Intron 4 | 112,775,627 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.423-2A>G | Intron 4 | 112,775,627 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.423-2A>T | Intron 4 | 112,775,627 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.423-3T>A | Intron 4 | 112,775,626 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.423-12A>G | Intron 4 | 112,775,617 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.476_488del | Exon 5 | 112,775,681 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.476dup | Exon 5 | 112,775,681 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.477C>A | Exon 5 | 112,775,683 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.477C>G | Exon 5 | 112,775,683 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.504_507del | Exon 5 | 112,775,709 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.531+1_531+2insT | Intron 5 | 112,775,738 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.531+1G>A | Intron 5 | 112,775,738 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.531+1G>C | Intron 5 | 112,775,738 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.531+1G>T | Intron 5 | 112,775,738 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.531+2T>A | Intron 5 | 112,775,739 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |