single nucleotide variant | NM_024675.4(PALB2):c.2514+1G>C | PALB2 | Likely pathogenic | 16 | 23640960 | 23640960 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA10588607 |
single nucleotide variant | NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter) | PALB2 | Pathogenic/Likely pathogenic | 16 | 23641107 | 23641107 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10588608 |
Deletion | NM_024675.4(PALB2):c.1650del (p.Lys550fs) | PALB2 | Likely pathogenic | 16 | 23646217 | 23646217 | AT | A | criteria provided, single submitter | ClinGen:CA10588609 |
single nucleotide variant | NM_024675.4(PALB2):c.1496T>A (p.Leu499Ter) | PALB2 | Pathogenic/Likely pathogenic | 16 | 23646371 | 23646371 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10588610 |
single nucleotide variant | NM_024675.4(PALB2):c.1424C>G (p.Ser475Ter) | PALB2 | Pathogenic/Likely pathogenic | 16 | 23646443 | 23646443 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10588611 |
Deletion | NM_024675.4(PALB2):c.1048del (p.Gln350fs) | PALB2 | Likely pathogenic | 16 | 23646819 | 23646819 | TG | T | criteria provided, single submitter | ClinGen:CA10588612 |
Deletion | NM_024675.4(PALB2):c.544del (p.Ile182fs) | PALB2 | Pathogenic | 16 | 23647323 | 23647323 | AT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10588613 |
single nucleotide variant | NM_024675.4(PALB2):c.421C>T (p.Gln141Ter) | PALB2 | Likely pathogenic | 16 | 23647446 | 23647446 | G | A | criteria provided, single submitter | ClinGen:CA10588614 |
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 |
Deletion | NM_007294.4(BRCA1):c.5569del (p.Gln1857fs) | BRCA1 | Likely pathogenic | 17 | 41197718 | 41197718 | TG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10588652 |