Duplication | NM_024675.4(PALB2):c.3473_3476dup (p.Trp1159Ter) | PALB2 | Pathogenic | 16 | 23614864 | 23614865 | C | CCAAT | criteria provided, single submitter | ClinGen:CA10579912 |
Duplication | NM_024675.4(PALB2):c.3456dup (p.Pro1153fs) | PALB2 | Pathogenic | 16 | 23614884 | 23614885 | G | GT | criteria provided, multiple submitters, no conflicts | ClinGen:CA288484 |
Deletion | NM_024675.4(PALB2):c.3455del (p.Pro1152fs) | PALB2 | Pathogenic | 16 | 23614886 | 23614886 | TG | T | criteria provided, single submitter | - |
single nucleotide variant | NM_024675.4(PALB2):c.3441T>A (p.Cys1147Ter) | PALB2 | Pathogenic | 16 | 23614900 | 23614900 | A | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_024675.4(PALB2):c.3436C>T (p.Gln1146Ter) | PALB2 | Pathogenic | 16 | 23614905 | 23614905 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA395138158 |
Duplication | NM_024675.4(PALB2):c.3426dup (p.Leu1143fs) | PALB2 | Pathogenic | 16 | 23614914 | 23614915 | G | GT | criteria provided, multiple submitters, no conflicts | ClinGen:CA294563 |
Deletion | NM_024675.4(PALB2):c.3425del (p.Leu1142fs) | PALB2 | Pathogenic/Likely pathogenic | 16 | 23614916 | 23614916 | TA | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16042144 |
single nucleotide variant | NM_024675.4(PALB2):c.3425T>A (p.Leu1142Ter) | PALB2 | Pathogenic | 16 | 23614916 | 23614916 | A | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_024675.4(PALB2):c.3420G>A (p.Trp1140Ter) | PALB2 | Pathogenic | 16 | 23614921 | 23614921 | C | T | criteria provided, single submitter | ClinGen:CA10583349 |
Deletion | NM_024675.4(PALB2):c.3396_3405del (p.Thr1133fs) | PALB2 | Pathogenic | 16 | 23614936 | 23614945 | TTCCAGAAGTC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10579916 |