single nucleotide variant | NM_006231.4(POLE):c.62+1G>C | POLE | Likely pathogenic | 12 | 133263839 | 133263839 | C | G | criteria provided, single submitter | - |
Deletion | NC_000012.12:g.(?_132672205)_(132681289_?)del | POLE | Pathogenic | 12 | 133248791 | 133257875 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_006231.4(POLE):c.119G>A (p.Trp40Ter) | POLE | Pathogenic | 12 | 133257809 | 133257809 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_006231.4(POLE):c.185G>A (p.Trp62Ter) | POLE | Pathogenic | 12 | 133257743 | 133257743 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_006231.4(POLE):c.331-2A>G | POLE | Likely pathogenic | 12 | 133256634 | 133256634 | T | C | criteria provided, single submitter | - |
single nucleotide variant | NM_006231.4(POLE):c.331-1G>A | POLE | Likely pathogenic | 12 | 133256633 | 133256633 | C | T | criteria provided, single submitter | ClinGen:CA387368431 |
single nucleotide variant | NM_006231.4(POLE):c.340C>T (p.Arg114Ter) | POLE | Pathogenic | 12 | 133256623 | 133256623 | G | A | criteria provided, single submitter | ClinGen:CA387368351 |
single nucleotide variant | NM_006231.4(POLE):c.538C>T (p.Gln180Ter) | POLE | Pathogenic | 12 | 133256123 | 133256123 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_006231.4(POLE):c.578+1G>A | POLE | Likely pathogenic | 12 | 133256082 | 133256082 | C | T | criteria provided, single submitter | - |
Duplication | NM_006231.4(POLE):c.663dup (p.Arg222fs) | POLE | Pathogenic | 12 | 133254220 | 133254221 | G | GC | criteria provided, single submitter | ClinGen:CA16614045 |