Deletion | NM_006231.4(POLE):c.4900del (p.Arg1634fs) | POLE | Pathogenic | 12 | 133219144 | 133219144 | CG | C | criteria provided, single submitter | ClinGen:CA658658216 |
Deletion | NM_006231.4(POLE):c.4959del (p.His1654fs) | POLE | Pathogenic | 12 | 133218977 | 133218977 | GA | G | criteria provided, single submitter | - |
Duplication | NM_006231.4(POLE):c.4959dup (p.His1654fs) | POLE | Pathogenic | 12 | 133218976 | 133218977 | G | GA | criteria provided, single submitter | ClinGen:CA658798021 |
Deletion | NM_006231.4(POLE):c.5103_5173+29del | POLE | Likely pathogenic | 12 | 133218734 | 133218833 | CTCATGGGCCTCGTCCTCCCGCCCACTTACCTGTGGAGTAACAGCCTGAACTGTTGATCTCAACAGTGGCTTGGTCATCGAACTCCATGACAAGACAGTTG | C | criteria provided, single submitter | - |
single nucleotide variant | NM_006231.4(POLE):c.5174-2A>C | POLE | Likely pathogenic | 12 | 133218439 | 133218439 | T | G | criteria provided, single submitter | - |
single nucleotide variant | NM_006231.4(POLE):c.5245G>T (p.Glu1749Ter) | POLE | Pathogenic | 12 | 133218366 | 133218366 | C | A | criteria provided, single submitter | - |
Deletion | NM_006231.4(POLE):c.5265del (p.Ile1756fs) | POLE | Pathogenic | 12 | 133218346 | 133218346 | TC | T | criteria provided, single submitter | ClinGen:CA658658210,OMIM:174762.0004 |
Deletion | NM_006231.4(POLE):c.5336del (p.Pro1779fs) | POLE | Pathogenic | 12 | 133218275 | 133218275 | CG | C | criteria provided, single submitter | - |
Deletion | NM_006231.4(POLE):c.5423del (p.Gln1808fs) | POLE | Pathogenic | 12 | 133215840 | 133215840 | CT | C | criteria provided, single submitter | - |
Deletion | NM_006231.4(POLE):c.5484del (p.Ser1829fs) | POLE | Pathogenic | 12 | 133215779 | 133215779 | AT | A | criteria provided, single submitter | ClinGen:CA658658209 |