single nucleotide variant | NM_006231.4(POLE):c.1270C>G (p.Leu424Val) | POLE | Pathogenic | 12 | 133250250 | 133250250 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA130722,UniProtKB:Q07864#VAR_069344,OMIM:174762.0001 |
single nucleotide variant | NM_006231.4(POLE):c.4006-1G>T | POLE | Likely pathogenic | 12 | 133225659 | 133225659 | C | A | criteria provided, single submitter | ClinGen:CA16043996 |
Duplication | NM_006231.4(POLE):c.3510dup (p.Leu1171fs) | POLE | Pathogenic | 12 | 133233793 | 133233794 | G | GT | criteria provided, single submitter | ClinGen:CA16613592 |
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 |
single nucleotide variant | NM_006231.4(POLE):c.3958C>T (p.Arg1320Ter) | POLE | Pathogenic | 12 | 133225939 | 133225939 | G | A | criteria provided, single submitter | ClinGen:CA16613662 |
Insertion | NM_006231.4(POLE):c.3501_3502insGGTCAAA (p.His1168fs) | POLE | Pathogenic | 12 | 133233802 | 133233803 | G | GTTTGACC | criteria provided, single submitter | ClinGen:CA16613670 |
Indel | NM_006231.3(POLE):c.2189_2199delinsT (p.Ala730fs) | POLE | Pathogenic | 12 | 133244209 | 133244219 | CTTCTTGTAGG | A | criteria provided, single submitter | ClinGen:CA16613870 |
single nucleotide variant | NM_006231.4(POLE):c.3276-2A>G | POLE | Likely pathogenic | 12 | 133234558 | 133234558 | T | C | criteria provided, single submitter | ClinGen:CA16613876 |
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.3060+2T>G | POLE | Likely pathogenic | 12 | 133237553 | 133237553 | A | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA6893380 |