single nucleotide variant | NM_006231.4(POLE):c.2049C>G (p.Tyr683Ter) | POLE | Pathogenic | 12 | 133245066 | 133245066 | G | C | criteria provided, single submitter | OMIM:174762.0006 |
single nucleotide variant | NM_006231.4(POLE):c.2125G>T (p.Glu709Ter) | POLE | Pathogenic | 12 | 133244990 | 133244990 | C | A | criteria provided, single submitter | - |
single nucleotide variant | NM_006231.4(POLE):c.2158A>T (p.Lys720Ter) | POLE | Pathogenic | 12 | 133244957 | 133244957 | T | A | criteria provided, single submitter | - |
Deletion | NM_006231.4(POLE):c.2164del (p.Arg722fs) | POLE | Pathogenic | 12 | 133244951 | 133244951 | CT | C | criteria provided, single submitter | ClinGen:CA658797990 |
Indel | NM_006231.3(POLE):c.2189_2199delinsT (p.Ala730fs) | POLE | Pathogenic | 12 | 133244209 | 133244219 | CTTCTTGTAGG | A | criteria provided, single submitter | ClinGen:CA16613870 |
Deletion | NM_006231.4(POLE):c.2245del (p.Arg749fs) | POLE | Pathogenic | 12 | 133244163 | 133244163 | CG | C | criteria provided, single submitter | - |
single nucleotide variant | NM_006231.4(POLE):c.2468+1G>A | POLE | Likely pathogenic | 12 | 133241887 | 133241887 | C | T | criteria provided, single submitter | ClinGen:CA16613609 |
Deletion | NM_006231.4(POLE):c.2473_2492del (p.Arg825fs) | POLE | Pathogenic | 12 | 133241025 | 133241044 | CATCTCCATGGAGTACCAGCG | C | criteria provided, single submitter | - |
single nucleotide variant | NM_006231.4(POLE):c.2551G>T (p.Glu851Ter) | POLE | Pathogenic | 12 | 133240966 | 133240966 | C | A | criteria provided, single submitter | - |
single nucleotide variant | NM_006231.4(POLE):c.2561+1G>A | POLE | Likely pathogenic | 12 | 133240955 | 133240955 | C | T | criteria provided, single submitter | - |