Deletion | NM_006231.4(POLE):c.1350_1360del (p.Glu450fs) | POLE | Pathogenic | 12 | 133250161 | 133250171 | CCTGGGGCTGCT | C | criteria provided, single submitter | - |
single nucleotide variant | NM_006231.4(POLE):c.1351C>T (p.Gln451Ter) | POLE | Pathogenic | 12 | 133250169 | 133250169 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_006231.4(POLE):c.1474-1G>C | POLE | Likely pathogenic | 12 | 133249426 | 133249426 | C | G | criteria provided, single submitter | - |
Deletion | NM_006231.4(POLE):c.1623_1633del (p.His543fs) | POLE | Pathogenic | 12 | 133249266 | 133249276 | TCCACGTGGCCC | T | criteria provided, single submitter | - |
Duplication | NM_006231.4(POLE):c.1625dup (p.His543fs) | POLE | Pathogenic | 12 | 133249273 | 133249274 | G | GC | criteria provided, single submitter | - |
Deletion | NM_006231.4(POLE):c.1673del (p.Cys558fs) | POLE | Pathogenic | 12 | 133249226 | 133249226 | GC | G | criteria provided, single submitter | ClinGen:CA16613882 |
single nucleotide variant | NM_006231.4(POLE):c.1686+1G>C | POLE | Likely pathogenic | 12 | 133249212 | 133249212 | C | G | criteria provided, single submitter | ClinGen:CA387356438 |
single nucleotide variant | NM_006231.4(POLE):c.1686+32C>G | POLE | Pathogenic/Likely pathogenic | 12 | 133249181 | 133249181 | G | C | criteria provided, multiple submitters, no conflicts | OMIM:174762.0003 |
Duplication | NM_006231.4(POLE):c.1836dup (p.Val613fs) | POLE | Pathogenic | 12 | 133245483 | 133245484 | C | CG | criteria provided, single submitter | ClinGen:CA482849577 |
single nucleotide variant | NM_006231.4(POLE):c.2026+1G>C | POLE | Likely pathogenic | 12 | 133245220 | 133245220 | C | G | criteria provided, single submitter | - |