Variants
BARD1 variants
The 219 BARD1 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 |
|---|---|---|---|---|---|
| A25Gfs*41 | c.69_70delinsTCCGGGAACGAGCCTCGTTCCGCGT | Exon 1 | 214,809,500 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A173Gfs*9 | c.517dup | Exon 4 | 214,781,356 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A200Lfs*13 | c.596_597dup | Exon 4 | 214,781,276 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A589Gfs*5 | c.1765dup | Exon 8 | 214,745,766 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.46_68dup | Exon 1 | 214,809,501 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.158+1G>T | Intron 1 | 214,809,411 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.159-1G>A | Intron 1 | 214,797,118 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.159-1G>T | Intron 1 | 214,797,118 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.159-2A>C | Intron 1 | 214,797,119 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.215+2T>C | Intron 2 | 214,797,059 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.216-1G>A | Intron 2 | 214,792,446 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.216-1G>C | Intron 2 | 214,792,446 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.216-1G>T | Intron 2 | 214,792,446 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.216-2A>G | Intron 2 | 214,792,447 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.272G>A | Exon 3 | 214,792,389 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.273G>A | Exon 3 | 214,792,388 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.364+1G>A | Intron 3 | 214,792,296 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.624dup | Exon 4 | 214,781,249 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.632T>A | Exon 4 | 214,781,242 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1205C>A | Exon 4 | 214,780,669 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1211dup | Exon 4 | 214,780,662 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1306_1314+7del | Intron 4 | 214,780,552 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1314+1G>A | Intron 4 | 214,780,559 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1338C>A | Exon 5 | 214,769,289 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1386G>A | Exon 5 | 214,769,241 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1396-1G>A | Intron 5 | 214,767,655 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1396-1G>C | Intron 5 | 214,767,655 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1396-1G>T | Intron 5 | 214,767,655 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1396-2A>C | Intron 5 | 214,767,656 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1568+1G>A | Intron 6 | 214,767,481 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1568+1G>T | Intron 6 | 214,767,481 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1569-1G>A | Intron 6 | 214,752,556 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1569-2A>G | Intron 6 | 214,752,557 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1676_1677+23del | Intron 7 | 214,752,423 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1677+1G>C | Intron 7 | 214,752,446 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1677+1G>T | Intron 7 | 214,752,446 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1678-1_1678del | Exon 8 | 214,745,853 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1678-1G>A | Intron 7 | 214,745,855 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1678-1G>T | Intron 7 | 214,745,855 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1678-2A>G | Intron 7 | 214,745,856 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1678-2A>T | Intron 7 | 214,745,856 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1810+1G>A | Intron 8 | 214,745,721 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1810+2T>G | Intron 8 | 214,745,720 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1811-1G>A | Intron 8 | 214,745,160 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1811-2A>G | Intron 8 | 214,745,161 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1903+1G>A | Intron 9 | 214,745,066 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1903+1G>T | Intron 9 | 214,745,066 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1903+2T>C | Intron 9 | 214,745,065 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1904-2del | Intron 9 | 214,730,509 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1904G>A | Exon 10 | 214,730,508 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1935_1954del | Exon 10 | 214,730,457 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2001+1G>A | Intron 10 | 214,730,410 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2001+1G>C | Intron 10 | 214,730,410 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2267G>A | Exon 11 | 214,728,743 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2268del | Exon 11 | 214,728,741 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| C53Vfs*5 | c.157del | Exon 1 | 214,809,412 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C53W | c.159T>G | Exon 2 | 214,797,117 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C62Vfs*2 | c.184del | Exon 2 | 214,797,091 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C71Y | c.212G>A | Exon 2 | 214,797,064 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C83X | c.249T>A | Exon 3 | 214,792,412 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C469X | c.1407C>A | Exon 6 | 214,767,643 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C645X | c.1932_1933del | Exon 10 | 214,730,478 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C675Sfs*39 | c.2024del | Exon 11 | 214,728,985 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D172Rfs*10 | c.513dup | Exon 4 | 214,781,360 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D458Rfs*10 | c.1371dup | Exon 5 | 214,769,255 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D500Efs*25 | c.1499dup | Exon 6 | 214,767,550 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D689Gfs*5 | c.2063dup | Exon 11 | 214,728,946 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D710Vfs*3 | c.2129_2132del | Exon 11 | 214,728,877 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E19X | c.55G>T | Exon 1 | 214,809,515 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E27X | c.79G>T | Exon 1 | 214,809,491 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E45X | c.133G>T | Exon 1 | 214,809,437 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E59Afs*8 | c.176_177del | Exon 2 | 214,797,098 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E181X | c.541G>T | Exon 4 | 214,781,333 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E225X | c.673G>T | Exon 4 | 214,781,201 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E234X | c.700G>T | Exon 4 | 214,781,174 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E270Dfs*6 | c.810del | Exon 4 | 214,781,063 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E270X | c.808G>T | Exon 4 | 214,781,066 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E287Rfs*6 | c.858dup | Exon 4 | 214,781,015 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E287Vfs*5 | c.860_861del | Exon 4 | 214,781,012 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E386X | c.1156G>T | Exon 4 | 214,780,718 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E550X | c.1648G>T | Exon 7 | 214,752,476 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E587Lfs*3 | c.1758_1761del | Exon 8 | 214,745,770 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E634X | c.1900G>T | Exon 9 | 214,745,070 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E652Vfs*69 | c.1935_1954dup | Exon 10 | 214,730,457 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E748X | c.2242G>T | Exon 11 | 214,728,768 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G82X | c.244G>T | Exon 3 | 214,792,417 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G428Rfs*46 | c.1281_1284del | Exon 4 | 214,780,589 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G451Wfs*3 | c.1350dup | Exon 5 | 214,769,276 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G568X | c.1702G>T | Exon 8 | 214,745,830 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G674X | c.2020G>T | Exon 11 | 214,728,990 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H325Qfs*2 | c.975_976del | Exon 4 | 214,780,897 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H606Rfs*6 | c.1817_1818del | Exon 9 | 214,745,151 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H686Qfs*27 | c.2058_2061del | Exon 11 | 214,728,948 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I249Lfs*3 | c.741_750del | Exon 4 | 214,781,123 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I286X | c.856del | Exon 4 | 214,781,017 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I357Nfs*5 | c.1069dup | Exon 4 | 214,780,804 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I591Ffs*14 | c.1771del | Exon 8 | 214,745,760 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I702X | c.2104_2111del | Exon 11 | 214,728,898 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I717Qfs*12 | c.2148_2149del | Exon 11 | 214,728,860 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K139Efs*5 | c.415_416del | Exon 4 | 214,781,457 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |