Deletion | NM_024675.4(PALB2):c.48+1del | PALB2 | Likely pathogenic | 16 | 23652430 | 23652430 | AC | A | criteria provided, single submitter | ClinGen:CA16609608 |
single nucleotide variant | NM_024675.4(PALB2):c.48+1G>A | PALB2 | Likely pathogenic | 16 | 23652430 | 23652430 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA395140998 |
single nucleotide variant | NM_024675.4(PALB2):c.48G>A (p.Lys16=) | PALB2 | Pathogenic/Likely pathogenic | 16 | 23652431 | 23652431 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA294568 |
single nucleotide variant | NM_024675.4(PALB2):c.43G>T (p.Glu15Ter) | PALB2 | Pathogenic | 16 | 23652436 | 23652436 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA299713 |
Deletion | NM_024675.4(PALB2):c.35del (p.Glu12fs) | PALB2 | Pathogenic | 16 | 23652444 | 23652444 | CT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10580061 |
Indel | NM_024675.4(PALB2):c.26delinsCG (p.Leu9fs) | PALB2 | Pathogenic | 16 | 23652453 | 23652453 | A | CG | criteria provided, single submitter | ClinGen:CA165127 |
Duplication | NM_024675.4(PALB2):c.12dup (p.Pro5fs) | PALB2 | Pathogenic | 16 | 23652466 | 23652467 | G | GA | criteria provided, multiple submitters, no conflicts | ClinGen:CA10584526 |
single nucleotide variant | NM_024675.4(PALB2):c.7G>T (p.Glu3Ter) | PALB2 | Pathogenic | 16 | 23652472 | 23652472 | C | A | reviewed by expert panel | ClinGen:CA10583388 |
single nucleotide variant | NM_024675.4(PALB2):c.3G>A (p.Met1Ile) | PALB2 | Likely pathogenic | 16 | 23652476 | 23652476 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16042152 |
single nucleotide variant | NM_024675.4(PALB2):c.1A>G (p.Met1Val) | PALB2 | Likely pathogenic | 16 | 23652478 | 23652478 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10584527 |