single nucleotide variant | NM_002691.4(POLD1):c.1421T>C (p.Leu474Pro) | POLD1 | Pathogenic/Likely pathogenic | 19 | 50909701 | 50909701 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA170564,UniProtKB:P28340#VAR_071966,OMIM:174761.0004 |
single nucleotide variant | NM_002691.4(POLD1):c.1433G>A (p.Ser478Asn) | POLD1 | Pathogenic/Likely pathogenic | 19 | 50909713 | 50909713 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA130715,UniProtKB:P28340#VAR_069335,OMIM:174761.0001 |
Indel | NM_006231.4(POLE):c.6651_6657+6delinsTGC | POLE | Likely pathogenic | 12 | 133202225 | 133202237 | ACTCACCAGGTCC | GCA | criteria provided, single submitter | - |
Deletion | NM_006231.4(POLE):c.6434_6438del (p.Arg2145fs) | POLE | Pathogenic | 12 | 133202796 | 133202800 | GGTCTC | G | criteria provided, single submitter | ClinGen:CA658798011 |
single nucleotide variant | NM_006231.4(POLE):c.6330+1G>A | POLE | Likely pathogenic | 12 | 133208900 | 133208900 | C | T | criteria provided, single submitter | - |
Deletion | NM_006231.4(POLE):c.6273_6280del (p.Gly2092fs) | POLE | Pathogenic | 12 | 133208951 | 133208958 | TGGGAACCG | T | criteria provided, single submitter | - |
Deletion | NM_006231.4(POLE):c.6072del (p.Pro2024_Val2025insTer) | POLE | Pathogenic | 12 | 133209314 | 133209314 | CG | C | criteria provided, single submitter | ClinGen:CA6892286 |
Deletion | NM_006231.4(POLE):c.6026del (p.His2009fs) | POLE | Pathogenic | 12 | 133209360 | 133209360 | GT | G | criteria provided, single submitter | - |
Deletion | NM_006231.4(POLE):c.6023del (p.Tyr2008fs) | POLE | Pathogenic | 12 | 133209363 | 133209363 | GT | G | criteria provided, single submitter | - |
Deletion | NC_000012.12:g.(?_132632305)_(132632805_?)del | POLE | Pathogenic | 12 | 133208891 | 133209391 | na | na | criteria provided, single submitter | - |