Deletion | NM_024675.4(PALB2):c.156del (p.Glu53fs) | PALB2 | Pathogenic | 16 | 23649226 | 23649226 | CT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA294551 |
single nucleotide variant | NM_024675.4(PALB2):c.163C>T (p.Gln55Ter) | PALB2 | Pathogenic | 16 | 23649219 | 23649219 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16620162 |
single nucleotide variant | NM_024675.4(PALB2):c.178C>T (p.Gln60Ter) | PALB2 | Pathogenic/Likely pathogenic | 16 | 23649204 | 23649204 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10588615 |
single nucleotide variant | NM_024675.4(PALB2):c.196C>T (p.Gln66Ter) | PALB2 | Pathogenic/Likely pathogenic | 16 | 23649186 | 23649186 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA187393 |
Deletion | NM_024675.4(PALB2):c.204del (p.Lys68fs) | PALB2 | Pathogenic | 16 | 23649178 | 23649178 | GT | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_024675.4(PALB2):c.211+1G>T | PALB2 | Pathogenic/Likely pathogenic | 16 | 23649170 | 23649170 | C | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_024675.4(PALB2):c.211+1G>A | PALB2 | Likely pathogenic | 16 | 23649170 | 23649170 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA395139005 |
Deletion | NC_000016.10:g.(?_23621352)_(23636344_?)del | PALB2 | Pathogenic | 16 | 23632673 | 23647665 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_024675.4(PALB2):c.212-2A>T | PALB2 | Likely pathogenic | 16 | 23647657 | 23647657 | T | A | criteria provided, single submitter | - |
single nucleotide variant | NM_024675.4(PALB2):c.212-2A>G | PALB2 | Pathogenic/Likely pathogenic | 16 | 23647657 | 23647657 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA299700 |