Variants
PALB2 variants
The 552 PALB2 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 |
|---|---|---|---|---|---|
| A842Sfs*7 | c.2524_2535delinsTCAGA | Exon 6 | 23,629,255 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.108+1_108+2insC | Intron 2 | 23,638,068 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2559C>T | Exon 6 | 23,629,231 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3350+4A>G | Intron 12 | 23,607,860 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3549C>A | Exon 13 | 23,603,471 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| E3X | c.7G>T | Exon 1 | 23,641,151 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E178Nfs*15 | c.532del | Exon 4 | 23,636,013 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G1121Vfs*3 | c.3362del | Exon 13 | 23,603,657 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L531Cfs*30 | c.1592del | Exon 4 | 23,634,953 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| N280Tfs*8 | c.839del | Exon 4 | 23,635,706 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| N930Ifs*6 | c.2787_2788dup | Exon 8 | 23,624,054 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q228X | c.682C>T | Exon 4 | 23,635,864 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q692X | c.2074C>T | Exon 5 | 23,630,080 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R1117K | c.3350G>A | Exon 12 | 23,607,864 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S172Gfs*4 | c.514_517del | Exon 4 | 23,636,028 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| W1038X | c.3113G>A | Exon 10 | 23,621,362 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A245Gfs*34 | c.734del | Exon 4 | 23,635,811 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A385Qfs*39 | c.1152del | Exon 4 | 23,635,393 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A406Qfs*18 | c.1216del | Exon 4 | 23,635,329 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A736Pfs*28 | c.2205del | Exon 5 | 23,629,948 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A995Cfs*16 | c.2982dup | Exon 9 | 23,622,982 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A1063Pfs*12 | c.3186del | Exon 11 | 23,614,018 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.1A>G | Exon 1 | 23,641,157 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2T>C | Exon 1 | 23,641,156 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2T>G | Exon 1 | 23,641,156 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3G>A | Exon 1 | 23,641,155 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.18G>T | Exon 1 | 23,641,140 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.48+1G>A | Intron 1 | 23,641,109 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.48+1G>T | Intron 1 | 23,641,109 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.48G>A | Exon 1 | 23,641,110 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.76del | Exon 2 | 23,638,101 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.108+1G>A | Intron 2 | 23,638,069 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.108+2T>G | Intron 2 | 23,638,068 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.109-1G>A | Intron 2 | 23,637,953 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.109-2A>G | Intron 2 | 23,637,954 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.109-2A>T | Intron 2 | 23,637,954 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.109-12T>A | Intron 2 | 23,637,964 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.211+1G>A | Intron 3 | 23,637,849 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.211+1G>T | Intron 3 | 23,637,849 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.503C>G | Exon 4 | 23,636,043 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.693del | Exon 4 | 23,635,852 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1226dup | Exon 4 | 23,635,319 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1227T>A | Exon 4 | 23,635,319 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1535dup | Exon 4 | 23,635,010 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1536C>G | Exon 4 | 23,635,010 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1553C>A | Exon 4 | 23,634,993 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1653T>G | Exon 4 | 23,634,893 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1675C>T | Exon 4 | 23,634,871 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1685-1G>C | Intron 4 | 23,630,470 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1685-2A>G | Intron 4 | 23,630,471 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1725G>A | Exon 5 | 23,630,429 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1919C>G | Exon 5 | 23,630,235 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2056del | Exon 5 | 23,630,097 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2514+1G>A | Intron 5 | 23,629,639 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2514+1G>C | Intron 5 | 23,629,639 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2515-1G>A | Intron 5 | 23,629,276 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2515-1G>T | Intron 5 | 23,629,276 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2694G>A | Exon 7 | 23,626,290 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2711G>A | Exon 7 | 23,626,273 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2717G>A | Exon 7 | 23,626,267 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2735G>A | Exon 7 | 23,626,249 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2747_2748+4del | Intron 7 | 23,626,231 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2748+1G>A | Intron 7 | 23,626,235 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2748+1G>C | Intron 7 | 23,626,235 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2748+1G>T | Intron 7 | 23,626,235 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2749-1G>T | Intron 7 | 23,624,095 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2749-2A>C | Intron 7 | 23,624,096 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2834+1G>A | Intron 8 | 23,624,008 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2834+1G>T | Intron 8 | 23,624,008 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2834+2T>A | Intron 8 | 23,624,007 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2834+2T>C | Intron 8 | 23,624,007 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2835-1G>A | Intron 8 | 23,623,131 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2835-1G>C | Intron 8 | 23,623,131 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2835-2A>G | Intron 8 | 23,623,132 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2996+1G>T | Intron 9 | 23,622,968 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3113+1G>A | Intron 10 | 23,621,361 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3113+5G>C | Intron 10 | 23,621,357 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3114-1G>A | Intron 10 | 23,614,092 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3114-2A>G | Intron 10 | 23,614,093 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3114G>A | Exon 11 | 23,614,091 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3164dup | Exon 11 | 23,614,040 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3201+1G>A | Intron 11 | 23,614,003 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3201+1G>C | Intron 11 | 23,614,003 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3201+1G>T | Intron 11 | 23,614,003 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3202-1G>A | Intron 11 | 23,608,013 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3202-1G>C | Intron 11 | 23,608,013 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3202-2A>C | Intron 11 | 23,608,014 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3202-2A>G | Intron 11 | 23,608,014 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3350+1G>A | Intron 12 | 23,607,863 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3350+2C>G | Intron 12 | 23,607,862 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3350+5G>A | Intron 12 | 23,607,859 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3351-1G>A | Intron 12 | 23,603,670 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3351-1G>C | Intron 12 | 23,603,670 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3351-2A>G | Intron 12 | 23,603,671 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3477G>A | Exon 13 | 23,603,543 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3492G>A | Exon 13 | 23,603,528 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| C77Vfs*100 | c.229del | Exon 4 | 23,636,316 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C396Lfs*5 | c.1186dup | Exon 4 | 23,635,359 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C396X | c.1188C>A | Exon 4 | 23,635,358 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C756Wfs*21 | c.2255_2267dup | Exon 5 | 23,629,886 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |