Deletion | NM_000059.4(BRCA2):c.6481_6484del (p.Asp2161fs) | BRCA2 | Pathogenic | 13 | 32914972 | 32914975 | AAGAC | A | reviewed by expert panel | ClinGen:CA10588566 |
Deletion | NM_000059.4(BRCA2):c.6727del (p.Ser2243fs) | BRCA2 | Pathogenic | 13 | 32915218 | 32915218 | AT | A | reviewed by expert panel | ClinGen:CA10588567 |
Indel | NM_000059.4(BRCA2):c.7210_7216delinsTGTAG (p.Lys2404fs) | BRCA2 | Pathogenic | 13 | 32929200 | 32929206 | AAAGTCT | TGTAG | reviewed by expert panel | ClinGen:CA10588568 |
Deletion | NM_024675.4(PALB2):c.3295_3301del (p.Thr1099fs) | PALB2 | Likely pathogenic | 16 | 23619234 | 23619240 | AGAGTCGT | A | criteria provided, single submitter | ClinGen:CA10588599 |
single nucleotide variant | NM_024675.4(PALB2):c.3234T>A (p.Cys1078Ter) | PALB2 | Pathogenic/Likely pathogenic | 16 | 23619301 | 23619301 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10588601 |
single nucleotide variant | NM_024675.4(PALB2):c.3114-1G>A | PALB2 | Likely pathogenic | 16 | 23625413 | 23625413 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10588602 |
Deletion | NM_024675.4(PALB2):c.3041_3042del (p.Leu1014fs) | PALB2 | Likely pathogenic | 16 | 23632754 | 23632755 | TTA | T | criteria provided, single submitter | ClinGen:CA10588603 |
Deletion | NM_024675.4(PALB2):c.3017del (p.Phe1005_Leu1006insTer) | PALB2 | Pathogenic/Likely pathogenic | 16 | 23632779 | 23632779 | CA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10588604 |
single nucleotide variant | NM_024675.4(PALB2):c.2996+1G>T | PALB2 | Likely pathogenic | 16 | 23634289 | 23634289 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10588605 |
single nucleotide variant | NM_024675.4(PALB2):c.2835-2A>C | PALB2 | Likely pathogenic | 16 | 23634453 | 23634453 | T | G | criteria provided, single submitter | ClinGen:CA10588606 |